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Brown University study: Computer models provide new understanding of sickle cell disease

The National Heart, Lung and Blood Institute describes sickle cell disease:

The term sickle cell disease (SCD) describes a group of inherited red blood cell disorders. People with SCD have abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in their red blood cells.
Hemoglobin is a protein in red blood cells that carries oxygen throughout the body.
“Inherited” means that the disease is passed by genes from parents to their children. SCD is not contagious. A person cannot catch it, like a cold or infection, from someone else.
People who have SCD inherit two abnormal hemoglobin genes, one from each parent. In all forms of SCD, at least one of the two abnormal genes causes a person’s body to make hemoglobin S. When a person has two hemoglobin S genes, Hemoglobin SS, the disease is called sickle cell anemia. This is the most common and often most severe kind of SCD.
Hemoglobin SC disease and hemoglobin Sβ thalassemia (thal-uh-SEE-me-uh) are two other common forms of SCD…. https://www.nhlbi.nih.gov/health/health-topics/topics/sca/

The Centers for Disease Control and Prevention provide data about sickle cell disease:

In the United States
The exact number of people living with SCD in the U.S. is unknown. Working with partners, the CDC supports projects to learn about the number of people living with SCD to better understand how the disease impacts their health.
It is estimated that:
• SCD affects approximately 100,000 Americans.
• SCD occurs among about 1 out of every 365 Black or African-American births.
• SCD occurs among about 1 out of every 16,300 Hispanic-American births.
• About 1 in 13 Black or African-American babies is born with sickle cell trait (SCT).
Comprehensive Care
• People with SCD have less access to comprehensive team care than people with genetic disorders such as hemophilia and cystic fibrosis. [Read article]
Mortality
• Sickle cell-related death among Black or African-American children younger than 4 years of age fell by 42% from 1999 through 2002. This drop coincided with the introduction in 2000 of a vaccine that protects against invasive pneumococcal disease.
[Read summary]
• Relative to the rate for the period 1983 through 1986, the SCD mortality rate for the period 1999 through 2002 decreased by:
o 68% at age 0 through 3 years;
o 39% at age 4 through 9 years; and
o 24% at age 10 through 14 years.
[Read summary]
• Mortality Among Children with Sickle Cell Disease Identified by Newborn Screening During 1990-1994 — California, Illinois, and New York:
o Among the children with Hb SS disease, 1% died as a result of SCD-related causes during the first 3 years of life.
o In California and Illinois, by the end of 1995, the cumulative mortality rate was 1.5 per 100 Black or African-American children with SCD. The equivalent cumulative mortality rate for all Black or African-American infants born during this period in California and Illinois was 2.0 per 100 Black or African-American newborns.
[Read article]
Economic Costs
• During 2005, medical expenditures for children with SCD averaged $11,702 for children with Medicaid coverage and $14,772 for children with employer-sponsored insurance. About 40% of both groups had at least one hospital stay.
[Read summary]
• SCD is a major public health concern. From 1989 through 1993, an average of 75,000 hospitalizations due to SCD occurred in the United States, costing approximately $475 million.
[Read summary]
https://www.cdc.gov/ncbddd/sicklecell/data.html

See, American Society of Hematology http://www.hematology.org/Patients/Anemia/Sickle-Cell.aspx
Science Daily reported in Computer models provide new understanding of sickle cell disease:

Computer models developed by Brown University mathematicians show new details of what happens inside a red blood cell affected by sickle cell disease. The researchers said they hope their models, described in an article in the Biophysical Journal, will help in assessing drug strategies to combat the genetic blood disorder, which affects millions of people worldwide.
Sickle cell disease affects hemoglobin, molecules within red blood cells responsible for transporting oxygen. In normal red blood cells, hemoglobin is dispersed evenly throughout the cell. In sickle red blood cells, mutated hemoglobin can polymerize when deprived of oxygen, assembling themselves into long polymer fibers that push against the membranes of the cells, forcing them out of shape. The stiff, ill-shaped cells can become lodged in small capillaries throughout the body, leading to painful episodes known as sickle cell crisis….
The model uses detailed biomechanical data on how sickle hemoglobin molecules behave and bind with each other to simulate the assembly of a polymer fiber. Prior to this work, the problem had been that as the fiber grows, so does the amount of data the model must crunch. Modeling an entire polymer fiber at cellular scale using the details of each molecule was simply too computationally expensive….
The researchers’ solution was to apply what they call a mesoscopic adaptive resolution scheme or MARS. The MARS model calculates the detailed dynamics of each individual hemoglobin molecule only at the each end of polymer fibers, where new molecules are being recruited into the fiber. Once four layers of a fiber have been established, the model automatically dials back the resolution at which it represents that section. The model retains the important information about how the fiber behaves mechanically, but glosses over the fine details of each constituent molecule….
Using the new MARS simulations, the researchers were able to show how different configurations of growing polymer fibers are able to produce cells with different shapes. Though the disease gets its name because it causes many red blood cells take on a sickle-like shape, there are actually a variety of abnormal cell shapes present. This new modeling approach showed new details about how different fiber structures inside the cell produce different cell shapes….
There are only two drugs on the market that has been approved by the FDA for treating sickle cell, Karniadakis says. One of them, called hydroxyurea, is thought to work by boosting the amount of fetal hemoglobin — the kind of hemoglobin that babies are born with — in a patient’s blood. Fetal hemoglobin is resistant to polymerization and, when present in sufficient quantity, is thought to disrupt the polymerization of sickle cell hemoglobin.
Using these new models, Karniadakis and his colleagues can now run simulations that include fetal hemoglobin. Those simulations could help to confirm that fetal hemoglobin does indeed disrupt polymerization, as well as help to establish how much fetal hemoglobin is necessary. That could help in establishing better dosage guidelines or in developing new and more effective drugs, the researchers say. https://www.sciencedaily.com/releases/2017/07/170728153954.htm

Citation:

Computer models provide new understanding of sickle cell disease
Date: July 28, 2017
Source: Brown University
Summary:
Simulations developed by mathematicians provide new details of how sickle cell disease manifests inside red blood cells, which could help in developing new treatments.

Journal Reference:
1. Lu Lu, He Li, Xin Bian, Xuejin Li, George Em Karniadakis. Mesoscopic Adaptive Resolution Scheme toward Understanding of Interactions between Sickle Cell Fibers. Biophysical Journal, 2017; 113 (1): 48 DOI: 10.1016/j.bpj.2017.05.050

Here is the Brown press release:

Computer models provide new understanding of sickle cell disease
July 28, 2017 Media contact: Kevin Stacey 401-863-3766
Simulations developed by Brown University mathematicians provide new details of how sickle cell disease manifests inside red blood cells, which could help in developing new treatments.
PROVIDENCE, R.I. [Brown University] — Computer models developed by Brown University mathematicians show new details of what happens inside a red blood cell affected by sickle cell disease. The researchers said they hope their models, described in an article in the Biophysical Journal, will help in assessing drug strategies to combat the genetic blood disorder, which affects millions of people worldwide.
Sickle cell disease affects hemoglobin, molecules within red blood cells responsible for transporting oxygen. In normal red blood cells, hemoglobin is dispersed evenly throughout the cell. In sickle red blood cells, mutated hemoglobin can polymerize when deprived of oxygen, assembling themselves into long polymer fibers that push against the membranes of the cells, forcing them out of shape. The stiff, ill-shaped cells can become lodged in small capillaries throughout the body, leading to painful episodes known as sickle cell crisis.
“The goal of our work is to model both how these sickle hemoglobin fibers form as well as the mechanical properties of those fibers,” said Lu Lu, a Ph.D. student in Brown Division of Applied Mathematics and the study’s lead author. “There had been separate models for each of these things individually developed by us, but this brings those together into one comprehensive model.”
The model uses detailed biomechanical data on how sickle hemoglobin molecules behave and bind with each other to simulate the assembly of a polymer fiber. Prior to this work, the problem had been that as the fiber grows, so does the amount of data the model must crunch. Modeling an entire polymer fiber at cellular scale using the details of each molecule was simply too computationally expensive.
“Even the world’s fastest supercomputers wouldn’t be able to handle it,” said George Karniadakis, professor of applied math at Brown and the paper’s senior author. “There’s just too much happening and no way to capture it all computationally. That’s what we were able to overcome with this work.”
As the simulated fiber grows, the model dials back the resolution, representing established parts of the fiber with courser grain, which makes simulating the fibers computationally tractable.
The researchers’ solution was to apply what they call a mesoscopic adaptive resolution scheme or MARS. The MARS model calculates the detailed dynamics of each individual hemoglobin molecule only at the each end of polymer fibers, where new molecules are being recruited into the fiber. Once four layers of a fiber have been established, the model automatically dials back the resolution at which it represents that section. The model retains the important information about how the fiber behaves mechanically, but glosses over the fine details of each constituent molecule.
“By eliminating the fine details where we don’t need them, we develop a model that can simulate this whole process and its effects on a red blood cell,” Karniadakis said.
Using the new MARS simulations, the researchers were able to show how different configurations of growing polymer fibers are able to produce cells with different shapes. Though the disease gets its name because it causes many red blood cells take on a sickle-like shape, there are actually a variety of abnormal cell shapes present. This new modeling approach showed new details about how different fiber structures inside the cell produce different cell shapes.
“We are able to produce a polymerization profile for each of the cell types associated with the disease,” Karniadakis said. “Now the goal is to use these models to look for ways of preventing the disease onset.”
The researchers used their models to create “polymerization profiles” for different cell shapes associated with sickle cell disease. The model above shows a cell with multiple fibers forming.
There are only two drugs on the market that has been approved by the FDA for treating sickle cell, Karniadakis says. One of them, called hydroxyurea, is thought to work by boosting the amount of fetal hemoglobin — the kind of hemoglobin that babies are born with — in a patient’s blood. Fetal hemoglobin is resistant to polymerization and, when present in sufficient quantity, is thought to disrupt the polymerization of sickle cell hemoglobin.
Using these new models, Karniadakis and his colleagues can now run simulations that include fetal hemoglobin. Those simulations could help to confirm that fetal hemoglobin does indeed disrupt polymerization, as well as help to establish how much fetal hemoglobin is necessary. That could help in establishing better dosage guidelines or in developing new and more effective drugs, the researchers say.
“The models give us a way to do preliminary testing on new approaches to stopping this disease,” Karniadakis said. “Now that we can simulate the entire polymerization process, we think the models will be much more useful.”
Lu and Karniadakis’ co-authors on the paper were He Li, Xin Bian and Xuejin Li, all from Brown’s Division of Applied Mathematics. The work was supported by the National Institutes of Health (U01HL114476). Computer time and other resources were provided under grants from the Department of Energy (DE-AC02-06CH11357, DE-AC05-00OR22725).
Note to Editors:
Editors: Brown University has a fiber link television studio available for domestic and international live and taped interviews, and maintains an ISDN line for radio interviews. For more information, call (401) 863-2476.

The Brown study is a breakthrough because it may lead to advanced and individual specific treatment for sickle cell disease.

WebMD described current treatment for sickle cell disease:

Treatment involves getting routine tests to monitor health, managing pain events (crises), and treating related health problems as they arise.
Treatment for severe cases of sickle cell disease may include medicines. For more information, see Medications.
Treatment for children
When parents learn that their baby has sickle cell disease, it’s the beginning of a lifelong education process. Knowing as much as you can about the disease can help you control symptoms as they arise and know what to do in emergency situations. Treatment includes:
• Routine childhood immunizations. Immunizations in adulthood are important too.
• Daily antibiotics from 2 months to 5 years of age to prevent life-threatening infections. This practice stops at age 5 because older children don’t have as many severe infections.
• The medicine hydroxyurea.
• Multivitamin supplements with iron during infancy.
• Folic acid supplements daily.
• Protein supplements if there is a lag in weight gain.
Starting at age 2 years, your child should get screened every now and then with a transcranial ultrasound. This test measures blood flow in the arteries of the head and neck. If test results show a high chance for stroke, your child may get blood transfusions to lower the risk.3 http://www.webmd.com/a-to-z-guides/tc/sickle-cell-disease-treatment-overview#1

As with any chronic disease, early diagnosis and treatment by qualified medical personnel is essential. See, Children’s Hospital Directory https://www.childrenshospitals.org/Directories/Hospital-Directory

Resources:

Sickle cell anemia patient ‘cured’ by gene therapy, doctors say
http://www.cnn.com/2017/03/03/health/sickle-cell-anemia/index.html

What Is Sickle Cell Disease?
https://www.nhlbi.nih.gov/health/health-topics/topics/sca/

Sickle Cell Anemia
http://www.nytimes.com/health/guides/disease/sickle-cell-anemia/overview.html

Sickle Cell Anemia Treatment & Management
http://emedicine.medscape.com/article/205926-treatment

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Tags: Adaptive Resolution Scheme toward Understanding of Interactions between Sickle Cell Fibers, Brown University, Computer models provide new understanding of sicle cell disease, Lung and Blood Institute, Science Daily, Sickle Cell Anemia, Sickle Cell Disease, The Centers for Disease Control and Prevention, The National Heart, WebMD

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Oxford University study: Prenatal exposure to acetaminophen may increase autism spectrum and hyperactivity symptoms in children

3 Jul

The number of children with autism appears to be growing. The Centers for Disease Control and Prevention provides statistics on the number of children with autism in the section Data and Statistics:

Prevalence

It is estimated that between 1 in 80 and 1 in 240 with an average of 1 in 110 children in the United States have an ASD. [Read article]
ASDs are reported to occur in all racial, ethnic, and socioeconomic groups, yet are on average 4 to 5 times more likely to occur in boys than in girls. However, we need more information on some less studied populations and regions around the world. [Read article]
Studies in Asia, Europe, and North America have identified individuals with an ASD with an approximate prevalence of 0.6% to over 1%. A recent study in South Korea reported a prevalence of 2.6%. [Data table ]
Approximately 13% of children have a developmental disability, ranging from mild disabilities such as speech and language impairments to serious developmental disabilities, such as intellectual disabilities, cerebral palsy, and autism. [Read article] http://www.cdc.gov/ncbddd/autism/data.html

In order for children with autism to reach their full potential there must be early diagnosis and treatment.

Science Daily reported in Prenatal exposure to acetaminophen may increase autism spectrum and hyperactivity symptoms in children:

A new study has found that paracetamol (acetaminophen), which is used extensively during pregnancy, has a strong association with autism spectrum symptoms in boys and for both genders in relation to attention-related and hyperactivity symptoms.

The findings were published this week in the International Journal of Epidemiology. This is the first study of its kind to report an independent association between the use of this drug in pregnancy and autism spectrum symptoms in children. It is also the first study to report different effects on boys and girls. Comparing persistently to nonexposed children, the study has found an increase of 30 per cent in the risk of detriment to some attention functions, and an increase of two clinical symptoms of autism spectrum symptoms in boys.

Researchers in Spain recruited 2644 mother-child pairs in a birth cohort study during pregnancy. 88 per cent were evaluated when the child was one year old, and 79.9 per cent were evaluated when they were five years old. Mothers were asked about their use of paracetamol during pregnancy and the frequency of use was classified as never, sporadic, or persistent. Exact doses could not be noted due to mothers being unable to recall them exactly.

43 per cent of children evaluated at age one and 41 per cent assessed at age five were exposed to any paracetamol at some point during the first 32 weeks of pregnancy. When assessed at age five, exposed children were at higher risk of hyperactivity or impulsivity symptoms. Persistently exposed children in particular showed poorer performance on a computerised test measuring inattention, impulsivity and visual speed processing.

Boys also showed more autism spectrum symptoms when persistently exposed to paracetamol. Lead author Claudia Avella-Garcia, researcher at CREAL, an ISGlobal allied centre in Barcelona, explained that, “although we measured symptoms and not diagnoses, an increase in the number of symptoms that a child has, can affect him or her, even if they are not severe enough to warrant a clinical diagnosis of a neurodevelopmental disorder…”

There could also be an explanation for why boys are more likely to have autism spectrum symptoms: “The male brain may be more vulnerable to harmful influences during early life,” said Claudia Avella-Garcia. “Our differing gender results suggest that androgenic endocrine disruption, to which male brains could be more sensitive, may explain the association.”

The study concluded that the widespread exposure of infants to paracetamol in utero could increase the number of children with ADHD or autism spectrum symptoms. However, they stressed further studies should be conducted with more precise dosage measurements, and that the risks versus benefits of paracetamol use during pregnancy and early life should be assessed before treatment recommendations are made. https://www.sciencedaily.com/releases/2016/07/160701095445.htm

Citation:

Prenatal exposure to acetaminophen may increase autism spectrum and hyperactivity symptoms in children

Date:        July 1, 2016

Source:    Oxford University Press (OUP)

Summary:

A new study has found that paracetamol (acetaminophen), which is used extensively during pregnancy, has a strong association with autism spectrum symptoms in boys and for both genders in relation to attention-related and hyperactivity symptoms.

Journal Reference:

Claudia B. Avella-Garcia, Jordi Julvez, Joan Fortuny, Cristina Rebordosa, Raquel García-Esteban, Isolina Riaño Galán, Adonina Tardónf, Clara L. Rodríguez-Bernal, Carmen Iñiguez, Ainara Andiarena, Loreto Santa-Marina, Jordi Sunyer. Acetaminophen Use in Pregnancy and Neurodevelopment: Attention Function and Autism Spectrum Symptoms. International Journal of Epidemiology, 2016 DOI: 10.1093/ije/dyv

Acetaminophen use in pregnancy and neurodevelopment: attention function and autism spectrum symptoms

Claudia B. Avella-Garcia ¹,²,³,⁴,⁵,

Jordi Julvez ¹,³,⁶,*,

Joan Fortuny ⁷,

Cristina Rebordosa ⁷,

Raquel García-Esteban ¹,³,⁶,

Isolina Riaño Galán ⁸,

Adonina Tardón ⁶,⁹,

Clara L. Rodríguez-Bernal ¹⁰,

Carmen Iñiguez ¹⁰,

Ainara Andiarena ¹¹,¹²,

Loreto Santa-Marina ⁶,¹²,¹³ and

Jordi Sunyer ¹,³,⁴,⁵

+ Author Affiliations

1.     ¹Center for Research in Environmental Epidemiology (CREAL) 2.     ²Unitat Docent de Medicina Preventiva i Salut Publica H. Mar-UPF-ASPB 3.     ³IMIM (Hospital del Mar Medical Research Institute) 4.     ⁴Universitat Pompeu Fabra (UPF) 5.     ⁵Universitat Autònoma de Barcelona, Barcelona, Spain 6.     ⁶CIBER Epidemiología y Salud Pública (CIBERESP), Spain 7.     ⁷RTI Health Solutions, Barcelona, Spain 8.     ⁸Servicio de Pediatria, Hospital San Agustin, Aviles Asturias, Spain 9.     ⁹Public Health Department, University of Oviedo, Oviedo, Spain 10. ¹⁰Environment and Health Area, CSISP-FISABIO-REDISSEC, Valencia, Spain 11. ¹¹Basic Psychological Processes and Development Department, Faculty of Psychology, University of the Basque Country, Gipuzkoa 12. ¹²Health Research Institute, Biodonostia, San Sebastián, Spain 13. ¹³Public Health Division of Gipuzkoa, Gipuzkoa, Basque Government, Spain

↵*Corresponding author. Centre for Research in Environmental Epidemiology-PRBB, C. Doctor Aiguader 88, 08003 Barcelona, Spain. E-mail: jjulvez@creal.cat

Accepted April 13, 2016.

Abstract

Background: Acetaminophen is extensively used during pregnancy. But there is a lack of population-representative cohort studies evaluating its effects on a range of neuropsychological and behavioural endpoints. We aimed to assess whether prenatal exposure to acetaminophen is adversely associated with neurodevelopmental outcomes at 1 and 5 years of age.

Methods: This Spanish birth cohort study included 2644 mother-child pairs recruited during pregnancy. The proportion of liveborn participants evaluated at 1 and 5 years was 88.8% and 79.9%, respectively. Use of acetaminophen was evaluated prospectively in two structured interviews. Ever/never use and frequency of use (never, sporadic, persistent) were measured. Main neurodevelopment outcomes were assessed using Childhood Autism Spectrum Test (CAST), Conner’s Kiddie Continuous Performance Test (K-CPT) and ADHD-DSM-IV form list. Regression models were adjusted for social determinants and co-morbidities.

Results: Over 40% of mothers reported using acetaminophen. Ever-exposed offspring had higher risks of presenting more hyperactivity/impulsivity symptoms [incidence rate ratio (IRR) = 1.41, 95% confidence interval (CI) 1.01–1.98), K-CPT commission errors (IRR = 1.10, 1.03–1.17), and lower detectability scores (coefficient β = −0.75, −0.13–−0.02). CAST scores were increased in ever-exposed males (β = 0.63, 0.09–1.18). Increased effect sizes of risks by frequency of use were observed for hyperactivity/impulsivity symptoms (IRR = 2.01, 0.95–4.24) in all children, K-CPT commission errors (IRR = 1.32, 1.05–1.66) and detectability (β = −0.18, −0.36–0.00) in females, and CAST scores in males (β = 1.91, 0.44–3.38).

Conclusions: Prenatal acetaminophen exposure was associated with a greater number of autism spectrum symptoms in males and showed adverse effects on attention-related outcomes for both genders. These associations seem to be dependent on the frequency of exposure.

One of the implications of this study is the necessity that women receive adequate prenatal care and women really should have pre-pregnancy counseling and care.

United Health Foundation reports Prenatal Care (1990 – 2011): Percentage of pregnant women receiving adequate prenatal care, as defined by Kessner Index:

Prenatal care is a critical component of health care for pregnant women and a key step towards having a healthy pregnancy and baby. Early prenatal care is especially important because many important developments take place during the first trimester, screenings can identify babies or mothers at risk for complications and health care providers can educate and prepare mothers for pregnancy. Women who receive prenatal care have consistently shown better outcomes than those who did not receive prenatal care [1]. Mothers who do not receive any prenatal care are three times more likely to deliver a low birth weight baby than mothers who received prenatal care, and infant mortality is five times higher [2]. Early prenatal care also allows health care providers to identify and address health conditions and behaviors that may reduce the likelihood of a healthy birth, such as smoking and drug and alcohol abuse. http://www.americashealthrankings.org/All/PrenatalCare/2012

Given this recent study it is imperative that ALL women receive prenatal care particularly poor and those women at risk of difficult pregnancies.

Autism and children of color

https://drwilda.com/tag/children-of-color-with-autism/

Archives of Pediatrics and Adolescent Medicine study: Kids with autism more likely to be bullied

https://drwilda.com/2012/09/06/archives-of-pediatrics-and-adolescent-medicine-study-kids-with-autism-more-likely-to-be-bullied/

Father’s age may be linked to Autism and Schizophrenia

https://drwilda.com/2012/08/26/fathers-age-may-be-linked-to-autism-and-schizophrenia/

Chelation treatment for autism might be harmful

https://drwilda.com/2012/12/02/chelation-treatment-for-autism-might-be-harmful/

Journal of American Medical Association study: Folic acid may reduce autism risk

https://drwilda.com/tag/folic-acid-in-pregnancy-may-lower-autism-risk/

Where information leads to Hope. © Dr. Wilda.com

Dr. Wilda says this about that ©

Blogs by Dr. Wilda:

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Dr. Wilda Reviews ©

http://drwildareviews.wordpress.com/

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Tags: acetaminophen, Acetaminophen Use in Pregnancy and Neurodevelopment: Attention Function and Autism Spectrum Symptoms, Autism, autism spectrum disorder, children with autism, Oxford University, Oxford University Press, Prenatal exposure to acetaminophen may increase autism spectrum and hyperactivity symptoms in children, Science Daily, The Centers for Disease Control and Prevention

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Johns Hopkins Bloomberg School of Public Health study: Evidence that autism spectrum disorder risks may begin in utero

31 Jan

Prevalence

It is estimated that between 1 in 80 and 1 in 240 with an average of 1 in 110 children in the United States have an ASD. [Read article]
ASDs are reported to occur in all racial, ethnic, and socioeconomic groups, yet are on average 4 to 5 times more likely to occur in boys than in girls. However, we need more information on some less studied populations and regions around the world. [Read article]
Studies in Asia, Europe, and North America have identified individuals with an ASD with an approximate prevalence of 0.6% to over 1%. A recent study in South Korea reported a prevalence of 2.6%. [Data table ]
Approximately 13% of children have a developmental disability, ranging from mild disabilities such as speech and language impairments to serious developmental disabilities, such as intellectual disabilities, cerebral palsy, and autism. [Read article] http://www.cdc.gov/ncbddd/autism/data.html

In order for children with autism to reach their full potential there must be early diagnosis and treatment.

Science Daily reported in Obesity, diabetes in mom increases risk of autism in child:

Children born to obese women with diabetes are more than four times as likely to be diagnosed with autism spectrum disorder than children of healthy weight mothers without diabetes, new Johns Hopkins Bloomberg School of Public Health research suggests.

The findings, to be published Jan. 29 in the journal Pediatrics, highlight what has become a leading theory about autism, that the risk likely develops before the child is even born.

“We have long known that obesity and diabetes aren’t good for mothers’ own health,” says study leader Xiaobin Wang, MD, ScD, MPH, the Zanvyl Krieger Professor in Child Health at the Bloomberg School and director of the Center on the Early Life Origins of Disease. “Now we have further evidence that these conditions also impact the long-term neural development of their children.”

Autism spectrum disorder is a neurodevelopmental condition characterized by severe deficits in socialization, verbal and nonverbal communication and repetitive behaviors. Since the 1960s, the prevalence rates have skyrocketed, with one in 68 U.S. children now affected by it, according to the U.S. Centers for Disease Control and Prevention. Obesity and diabetes have also risen to epidemic levels in women of reproductive age over the same time period.

For the study, the researchers analyzed 2,734 mother-child pairs, a subset of the Boston Birth Cohort recruited at the Boston Medical Center at birth between 1998 and 2014. They collected data on maternal pre-pregnancy weight and whether the mothers had diabetes before getting pregnant or whether they developed gestational diabetes during pregnancy. They also followed up the children from birth through childhood via postnatal study visits and review of electronic medical records. They identified 102 children who were diagnosed with autism spectrum disorder over the course of the study. Those children with mothers who were both diabetic and obese were more than four times as likely to develop autism compared to children born to normal weight mothers without diabetes, they found.

“Our research highlights that the risk for autism begins in utero,” says co-author M. Daniele Fallin, PhD, chair of the Bloomberg School’s Department of Mental Health and director of the Wendy Klag Center for Autism and Developmental Disabilities. “It’s important for us to now try to figure out what is it about the combination of obesity and diabetes that is potentially contributing to sub-optimal fetal health.”

Previous studies had suggested a link between maternal diabetes and autism, but this is believed to be the first to look at obesity and diabetes in tandem as potential risk factors…. http://www.sciencedaily.com/releases/2016/01/160129091631.htm

Citation:

Obesity, diabetes in mom increases risk of autism in child

Date: January 29, 2016

Source: Johns Hopkins Bloomberg School of Public Health

Summary:

Children born to obese women with diabetes are more than four times as likely to be diagnosed with autism spectrum disorder than children of healthy weight mothers without diabetes, new research suggests.

Journal Reference:

Mengying Li; M. Daniele Fallin; Anne Riley; Rebecca Landa; Sheila O. Walker; Michael Silverstein; Deanna Caruso; Colleen Pearson; Shannon Kiang; Jamie Lyn Dahm; Xiumei Hong; Guoying Wang; Mei-Cheng Weng; Barry Zuckerman and Xiaobin Wang. The association of maternal obesity and diabetes with autism and other developmental disabilities. Pediatrics, January 2016 DOI: 10.1542/peds.2015-2206

Here is the press release from Johns Hopkins:

January 29, 2016

Obesity, Diabetes in Mom Increases Risk of Autism in Child

New study offers new evidence that autism spectrum disorder risks may begin in utero

Children born to obese women with diabetes are more than four times as likely to be diagnosed with autism spectrum disorder than children of healthy weight mothers without diabetes, new Johns Hopkins Bloomberg School of Public Health research suggests.

The findings, to be published Jan. 29 in the journal Pediatrics, highlight what has become a leading theory about autism, that the risk likely develops before the child is even born.

“We have long known that obesity and diabetes aren’t good for mothers’ own health,” says study leader Xiaobin Wang, MD, ScD, MPH, the Zanvyl Krieger Professor in Child Health at the Bloomberg School and director of the Center on the Early Life Origins of Disease. “Now we have further evidence that these conditions also impact the long-term neural development of their children.”

Autism spectrum disorder is a neurodevelopmental condition characterized by severe deficits in socialization, verbal and nonverbal communication and repetitive behaviors. Since the 1960s, the prevalence rates have skyrocketed, with one in 68 U.S. children now affected by it, according to the U.S. Centers for Disease Control and Prevention. Obesity and diabetes have also risen to epidemic levels in women of reproductive age over the same time period.

For the study, the researchers analyzed 2,734 mother-child pairs, a subset of the Boston Birth Cohort recruited at the Boston Medical Center at birth between 1998 and 2014. They collected data on maternal pre-pregnancy weight and whether the mothers had diabetes before getting pregnant or whether they developed gestational diabetes during pregnancy. They also followed up the children from birth through childhood via postnatal study visits and review of electronic medical records. They identified 102 children who were diagnosed with autism spectrum disorder over the course of the study. Those children with mothers who were both diabetic and obese were more than four times as likely to develop autism compared to children born to normal weight mothers without diabetes, they found.

“Our research highlights that the risk for autism begins in utero,” says co-author M. Daniele Fallin, PhD, chair of the Bloomberg School’s Department of Mental Health and director of the Wendy Klag Center for Autism and Developmental Disabilities. “It’s important for us to now try to figure out what is it about the combination of obesity and diabetes that is potentially contributing to sub-optimal fetal health.”

Previous studies had suggested a link between maternal diabetes and autism, but this is believed to be the first to look at obesity and diabetes in tandem as potential risk factors.

Along with pre-conception diabetes, children of obese mothers who developed gestational diabetes during pregnancy were also at a significantly higher risk of being diagnosed with autism.

The biology of why obesity and diabetes may contribute to autism risk isn’t well understood. Obesity and diabetes in general cause stress on the human body, the researchers say. Previous research suggests maternal obesity may be associated with an inflammation in the developing fetal brain. Other studies suggest obese women have less folate, a B-vitamin vital for human development and health.

The researchers say that women of reproductive age who are thinking about having children need to not only think about their obesity and diabetes status for their own health, but because of the implications it could have on their children. Better diabetes and weight management could have lifelong impacts on mother and child, they say.

“In order to prevent autism, we may need to consider not only pregnancy, but also pre-pregnancy health,” Fallin says.

“The association of maternal obesity and diabetes with autism and other developmental disabilities” was written by Mengying Li; M. Daniele Fallin; Anne Riley; Rebecca Landa; Sheila O. Walker; Michael Silverstein; Deanna Caruso; Colleen Pearson; Shannon Kiang; Jamie Lyn Dahm; Xiumei Hong; Guoying Wang; Mei-Cheng Weng; Barry Zuckerman and Xiaobin Wang.

The parent study was supported in part by the March of Dimes, the National Institute of Environmental Health Sciences (R21 ES011666) and the National Institute of Child Health and Human Development (2R01 HD041702). The Pediatrics study is supported in part by the Ludwig Family Foundation; the National Institute of Allergy and Infectious Diseases (U01AI90727 and R21AI079872) and the Maternal and Child Health Bureau (R40MC27442).

# # #

Media contacts for the Johns Hopkins Bloomberg School of Public Health: Barbara Benham at 410-614-6029 or bbenham1@jhu.edu and Stephanie Desmon at 410-955-7619 or sdesmon1@jhu.edu.

One of the implications of this study is the necessity that women receive adequate prenatal care and women really should have pre-pregnancy counseling and care.

United Health Foundation reports Prenatal Care (1990 – 2011): Percentage of pregnant women receiving adequate prenatal care, as defined by Kessner Index:

Prenatal care is a critical component of health care for pregnant women and a key step towards having a healthy pregnancy and baby. Early prenatal care is especially important because many important developments take place during the first trimester, screenings can identify babies or mothers at risk for complications and health care providers can educate and prepare mothers for pregnancy. Women who receive prenatal care have consistently shown better outcomes than those who did not receive prenatal care [1]. Mothers who do not receive any prenatal care are three times more likely to deliver a low birth weight baby than mothers who received prenatal care, and infant mortality is five times higher [2]. Early prenatal care also allows health care providers to identify and address health conditions and behaviors that may reduce the likelihood of a healthy birth, such as smoking and drug and alcohol abuse. http://www.americashealthrankings.org/All/PrenatalCare/2012

Given this recent study it is imperative that ALL women receive prenatal care particularly poor and those women at risk of difficult pregnancies.

Autism and children of color

https://drwilda.com/tag/children-of-color-with-autism/

Archives of Pediatrics and Adolescent Medicine study: Kids with autism more likely to be bullied

https://drwilda.com/2012/09/06/archives-of-pediatrics-and-adolescent-medicine-study-kids-with-autism-more-likely-to-be-bullied/

Father’s age may be linked to Autism and Schizophrenia

https://drwilda.com/2012/08/26/fathers-age-may-be-linked-to-autism-and-schizophrenia/

Chelation treatment for autism might be harmful

https://drwilda.com/2012/12/02/chelation-treatment-for-autism-might-be-harmful/

Journal of American Medical Association study: Folic acid may reduce autism risk

https://drwilda.com/tag/folic-acid-in-pregnancy-may-lower-autism-risk/

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Tags: Autism, Autism Spectrum, autism spectrum disorder, Chilodrens Health, Diabetes, Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, Obesity, Obesity, diabetes in mom increases risk of autism in child, Pregnancy, Prenatal Care, Science Daily, The association of maternal obesity and diabetes with autism and other developmental disabilities, The Centers for Disease Control and Prevention

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St. Jude Children’s Research Hospital study: More than 8 percent of children with cancer have genetic predisposition

30 Nov

The American Cancer Society lists the most common cancers in children:

What are the most common types of childhood cancers?

The types of cancers that occur most often in children are different from those seen in adults. The most common cancers of children are:

Leukemia

Brain and other central nervous system tumors

Neuroblastoma

Wilms tumor

Lymphoma (including both Hodgkin and non-Hodgkin)

Rhabdomyosarcoma

Retinoblastoma

Bone cancer (including osteosarcoma and Ewing sarcoma)

Other types of cancers are rare in children, but they do happen sometimes. In very rare cases, children may even develop cancers that are much more common in adults…. http://www.cancer.org/cancer/cancerinchildren/detailedguide/cancer-in-children-types-of-childhood-cancers

Increasingly, scientists are discovering many diseases occur because of a genetic predisposition.

Genetics Home Reference answers: What does it mean to have a genetic predisposition to a disease?

A genetic predisposition (sometimes also called genetic susceptibility) is an increased likelihood of developing a particular disease based on a person’s genetic makeup. A genetic predisposition results from specific genetic variations that are often inherited from a parent. These genetic changes contribute to the development of a disease but do not directly cause it. Some people with a predisposing genetic variation will never get the disease while others will, even within the same family.

Genetic variations can have large or small effects on the likelihood of developing a particular disease. For example, certain mutations in the BRCA1 or BRCA2 genes greatly increase a person’s risk of developing breast cancer and ovarian cancer. Variations in other genes, such as BARD1 and BRIP1, also increase breast cancer risk, but the contribution of these genetic changes to a person’s overall risk appears to be much smaller….

In people with a genetic predisposition, the risk of disease can depend on multiple factors in addition to an identified genetic change. These include other genetic factors (sometimes called modifiers) as well as lifestyle and environmental factors. Diseases that are caused by a combination of factors are described as multifactorial. Although a person’s genetic makeup cannot be altered, some lifestyle and environmental modifications (such as having more frequent disease screenings and maintaining a healthy weight) may be able to reduce disease risk in people with a genetic predisposition. http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/predisposition

St. Jude Children’s Research Hospital reported that many pediatric cancers are the result of a genetic predisposition.

Science Daily reported in More than 8 percent of children with cancer have genetic predisposition:

The most detailed analysis yet of the role germline mutations in genes associated with cancer predisposition play in the development of childhood cancer suggests that comprehensive genomic screening may be warranted on all pediatric cancer patients, not just those with a family history of cancer. The study from the St. Jude Children’s Research Hospital — Washington University Pediatric Cancer Genome Project appears in the November 19 edition of the New England Journal of Medicine.

Ultimately, researchers anticipate that systematic monitoring of patients and family members who have germline mutations in cancer predisposition genes will allow the detection of cancers at their earliest and most curable stage, thereby improving the outcomes for these children and family members.

Researchers conducted next-generation DNA sequencing of both the tumor and normal tissues from 1,120 pediatric cancer patients and found that 8.5 percent of patients had pathogenic or likely pathogenic mutations of genes within their normal tissue that increase their risk of developing cancer. Prior to this study, the presence of such germline mutations in pediatric cancer patients was thought to be extremely rare and restricted to children in families with strong histories of cancer. This study revealed that more than half of the children with germline mutations lacked any family history of cancer.

“This paper marks an important turning point in our understanding of pediatric cancer risk and will likely change how patients are evaluated,” said corresponding author James R. Downing, M.D., St. Jude president and chief executive officer. “For many pediatric cancer patients, comprehensive next-generation DNA sequencing of both their tumor and normal tissue may provide valuable information that will not only influence their clinical management but also lead to genetic counseling and testing of their parents and siblings who may be at risk and would benefit from ongoing surveillance….” http://www.sciencedaily.com/releases/2015/11/151118181247.htm

Citation:

More than 8 percent of children with cancer have genetic predisposition, new study suggests

Date:

November 18, 2015

Source:

St. Jude Children’s Research Hospital

Summary:

The most detailed analysis yet of the role germline mutations in genes associated with cancer predisposition play in the development of childhood cancer suggests that comprehensive genomic screening may be warranted on all pediatric cancer patients, not just those with a family history of cancer.

Journal Reference:

Zhang et al. Germline Mutations in Predisposition Genes in Pediatric Cancer. New England Journal of Medicine., Nov. 18, 2015 DOI: 10.1056/NEJMoa1508054

Here is the press release from St. Jude:

New study suggests more than 8 percent of children with cancer have genetic predisposition

St. Jude Children’s Research Hospital-Washington University Pediatric Cancer Genome Project completes the most comprehensive analysis yet of the role genes associated with cancer predisposition play in childhood cancer

Memphis, Tennessee, November 18, 2015

A landmark study uncovers important findings about genetic cancer risk and kids. Learn how St. Jude is using this information to help kids and their families.The most detailed analysis yet of the role germline mutations in genes associated with cancer predisposition play in the development of childhood cancer suggests that comprehensive genomic screening may be warranted on all pediatric cancer patients, not just those with a family history of cancer. The study from the St. Jude Children’s Research Hospital – Washington University Pediatric Cancer Genome Project appears in the November 19 edition of the New England Journal of Medicine.

Ultimately, researchers anticipate that systematic monitoring of patients and family members who have germline mutations in cancer predisposition genes will allow the detection of cancers at their earliest and most curable stage, thereby improving the outcomes for these children and family members.

Researchers conducted next-generation DNA sequencing of both the tumor and normal tissues from 1,120 pediatric cancer patients and found that 8.5 percent of patients had pathogenic or likely pathogenic mutations of genes within their normal tissue that increase their risk of developing cancer. Prior to this study, the presence of such germline mutations in pediatric cancer patients was thought to be extremely rare and restricted to children in families with strong histories of cancer. This study revealed that more than half of the children with germline mutations lacked any family history of cancer.

“This paper marks an important turning point in our understanding of pediatric cancer risk and will likely change how patients are evaluated,” said corresponding author James R. Downing, M.D., St. Jude president and chief executive officer. “For many pediatric cancer patients, comprehensive next-generation DNA sequencing of both their tumor and normal tissue may provide valuable information that will not only influence their clinical management but also lead to genetic counseling and testing of their parents and siblings who may be at risk and would benefit from ongoing surveillance.”

“The frequency of 8.5 percent represents our current estimate of the number of pediatric patients with a hereditary cancer predisposition,” Downing added. “This number will likely increase as we learn more about mutations in this class of genes in young cancer patients.” To accomplish the latter, St. Jude has initiated a new clinical research study, Genomes for Kids (G4K), which incorporates an unparalleled level of next-generation sequencing into the medical workup of every eligible pediatric cancer patient who enters the hospital for treatment.

Any child found to have a germline mutation in a cancer predisposition gene will be referred to the new St. Jude Hereditary Cancer Predisposition Clinic, which evaluates and cares for children who are at increased genetic risk for cancer. The clinic is staffed by a team of doctors, nurses and genetic counselors who work with families to determine if a child’s cancer might be inherited. The staff then collaborates with other St. Jude doctors and researchers to find new and better ways to help families with an elevated cancer risk. This new clinic is one of only a few programs in the world focused on evaluating and managing children and families with known or suspected cancer predisposition.

St. Jude patient Gunner and Kim Nichols, M.D., director of the St. Jude Hereditary Cancer Predisposition Clinic

“Our study in The New England Journal of Medicine lays the groundwork to understand the spectrum of cancers and age-specific cancer risks associated with germline mutations in predisposition genes and how best to monitor at-risk patients and families,” said co-author Kim Nichols, M.D., a member of the St. Jude Department of Oncology and director of the St. Jude Hereditary Cancer Predisposition Clinic.

Co-author Richard K. Wilson, Ph.D., director of the McDonnell Genome Institute at Washington University School of Medicine in St. Louis, added: “We’ve suspected for some time that many pediatric cancers could be traced to an inherited genetic predisposition. Now, using genome sequencing, we can see the contribution of germline mutations to pediatric cancer risk. Our results explain why children, who have not lived long enough to accumulate a critical number of cancer-causing mutations can still develop cancer.”

About the Study and Genetic Sequencing

The human genome is encoded in the DNA that carries the instructions required to assemble and sustain life. Whole-genome sequencing involves determining the exact order of the 3 billion nucleotides that make up human DNA. Whole-exome sequencing involves sequencing the 1 to 2 percent of the human genome that carries the approximately 20,000 human genes.

This study involved sequencing the whole genome, whole exome or both of patients enrolled in the Pediatric Cancer Genome Project to check for germline mutations in 565 genes associated with cancer. In-depth data analysis was done on 60 of these genes that are associated with autosomal dominant hereditary cancer predisposition syndromes. Mutations in these genes are known to increase cancer risk when one of the two copies of the gene is altered.

In this study, 95 patients, or 8.5 percent, had germline mutations in 21 of the 60 genes. Investigators checked whole-exome sequencing data of a comparison group without cancer and found that only 1.1 percent of 966 adults enrolled in the 1000 Genomes Project, an international collaboration to map human genetic variation, had alterations in the same genes.

The genes selected for detailed analysis were chosen based on a review of available cancer and genetic databases, the medical literature and other information. “Finding genomic variants is relatively easy compared to assessing their cancer-causing potential,” said co-first author Jinghui Zhang, Ph.D., chair of the St. Jude Department of Computational Biology. “The system we developed to create the database for this study provides a template for assessing the pathogenic significance of alterations going forward.”

In this study, the frequency of germline mutations in cancer predisposition genes varied by the type of cancer the child had. The highest frequency, 16.7 percent, was found in children with non-central nervous system (CNS) solid tumors, followed by CNS tumors, 9 percent, and leukemia, 4.4 percent.

The most commonly mutated genes in the affected patients were TP53, APC, BRCA2, NF1, PMS2 and RB1. Many of these genes have been previously associated with rare families with multiple children who develop cancer. An unexpected finding was the identification of mutations in the breast and ovarian cancer genes BRCA1 and BRCA2 in a number of the pediatric cancer patients. These genes are not currently included in pediatric cancer genetic screening. The prevalence of mutations in these genes in this pediatric cancer cohort suggests that the role of these genes in pediatric cancer needs to be further studied. “Another surprising finding to emerge from this study was the prevalence of germline mutations in six patients with Ewing sarcoma, a cancer of the bone and soft tissue that was not previously thought to be part of any cancer predisposition syndrome,” Nichols said.

Read the full text of the article:

Germline mutations in predisposition genes in pediatric cancer.

N Engl J Med, Nov 18, 2015. Epub ahead of print. doi:10.1056//NEJMoa1508054

View Media ToolkitThe other co-first authors are Gang Wu, Ph.D., of St. Jude, and Michael Walsh, M.D., formerly of St. Jude and now of Memorial Sloan Kettering Cancer Center, New York. The other authors are Michael Edmonson, Tanja Gruber, John Easton, Dale Hedges, Xiaotu Ma, Xin Zhou, Donald Yergeau, Mark Wilkinson, Bhavin Vadodaria, Xiang Chen, Rose McGee, Stacy Hines-Dowell, Regina Nuccio, Emily Quinn, Sheila Shurtleff, Michael Rusch, Aman Patel, Jared Becksfort, Shuoguo Wang, Amar Gajjar, David Ellison, Alberto Pappo and Ching-Hon Pui, all of St. Jude; Meaghann Weaver, formerly of St. Jude; and Li Ding and Elaine Mardis, both of the McDonnell Genome Institute, Washington University, St. Louis.

The research was funded in part by the Pediatric Cancer Genome Project, including Kay Jewelers, a lead sponsor; a grant (CA021765) from the National Cancer Institute at the National Institutes of Health; and ALSAC.

https://www.stjude.org/media-resources/news-releases/2015-medicine-science-news/new-study-suggests-more-than-8-percent-of-children-with-cancer-have-genetic-predisposition.html

Many couples may want to seek genetic counseling before attempting parenthood.

The Centers for Disease Control and Prevention have excellent information about genetic counseling:

In genetic counseling, specially-trained professionals help people learn about genetic conditions, find out their chances of being affected by or having a child or other family member with a genetic condition, and make informed decisions about testing and treatment.

Reasons for Genetic Counseling

There are many reasons that people go for genetic counseling, such as:

A family history of a genetic condition

To learn about genetic screening for diseases that are more common in certain ethnic groups (e.g., sickle cell disease in African Americans and Tay-Sachs disease in Ashkenazi Jews)

To discuss abnormal results from tests during pregnancy (such as a blood test, ultrasound, chorionic villus sampling (CVS), or amniocentesis)

To learn about the higher chance for certain types of genetic conditions (such as Down syndrome) in the baby if mother-to-be is 35 years of age or more, or is concerned at any age about her chances of having a child with a genetic condition

To learn about the effects of being exposed to x-rays, chemicals, illness, or prescribed or illicit drugs while pregnant

A woman has had several miscarriages or infant deaths

Trouble getting pregnant (infertility)

A genetic condition or birth defect occurred in a previous pregnancy

A child has birth defects, disabilities, or conditions found by newborn screening

To find out if there is a genetic cause for developmental delays or health problems

Steps to get ready for a healthy pregnancy and baby (such as screening for genetic conditions)

About Genetics Professionals

Clinical geneticists and genetic counselors often work together as part of a health care team. They diagnose and care for people with genetic conditions and give information and support to people with genetic conditions and their families…. http://www.cdc.gov/ncbddd/genetics/genetic_counseling.html

It is important that competent medical professionals are consulted to not only diagnose, but to interpret and explain any genetic probability.

Resources:

Childhood Cancers http://www.cancer.gov/types/childhood-cancers

Cancer in Children http://www.cancer.org/cancer/cancerinchildren/

Where information leads to Hope. © Dr. Wilda.com

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http://drwildareviews.wordpress.com/

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Tags: cancer, genetic predisposition, Genetic testing, Genetics Home Reference, genteic counseling, Germline Mutations in Predisposition Genes in Pediatric Cancer., More than 8 percent of children with cancer have genetic predisposition, New England Journal of Medicine, pediatric cancer, St. Jude, St. Jude Children's Research Hospital, The American Cancer Society, The Centers for Disease Control and Prevention, What are the most common types of childhood cancers?, What does it mean to have a genetic predisposition to a disease?

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University of Wisconsin School of Medicine and Public Health study: Vitamin D does not reduce colds in asthma patients

26 Nov

The National Heart, Lung, and Blood Institute describe asthma:

What Is Asthma?

Asthma (AZ-ma) is a chronic (long-term) lung disease that inflames and narrows the airways. Asthma causes recurring periods of wheezing (a whistling sound when you breathe), chest tightness, shortness of breath, and coughing. The coughing often occurs at night or early in the morning.

Asthma affects people of all ages, but it most often starts during childhood. In the United States, more than 25 million people are known to have asthma. About 7 million of these people are children.

Overview

To understand asthma, it helps to know how the airways work. The airways are tubes that carry air into and out of your lungs. People who have asthma have inflamed airways. The inflammation makes the airways swollen and very sensitive. The airways tend to react strongly to certain inhaled substances.

When the airways react, the muscles around them tighten. This narrows the airways, causing less air to flow into the lungs. The swelling also can worsen, making the airways even narrower. Cells in the airways might make more mucus than usual. Mucus is a sticky, thick liquid that can further narrow the airways.

This chain reaction can result in asthma symptoms. Symptoms can happen each time the airways are inflamed…. http://www.nhlbi.nih.gov/health/health-topics/topics/asthma/

The Centers for Disease Control and Prevention describe how to tell if you have asthma:

How Can You Tell if You Have Asthma?

It can be hard to tell if someone has asthma, especially in children under age 5. Having a doctor check how well your lungs work and check for allergies can help you find out if you have asthma.

During a checkup, the doctor will ask if you cough a lot, especially at night, and whether your breathing problems are worse after physical activity or at certain times of year. The doctor will also ask about chest tightness, wheezing, and colds lasting more than 10 days. They will ask whether anyone in your family has or has had asthma, allergies, or other breathing problems, and they will ask questions about your home. The doctor will also ask if you have missed school or work and about any trouble you may have doing certain things.

The doctor will also do a breathing test, called spirometry, to find out how well your lungs are working. The doctor will use a computer with a mouthpiece to test how much air you can breathe out after taking a very deep breath. The spirometer can measure airflow before and after you use asthma medicine.

What Is an Asthma Attack?

An asthma attack may include coughing, chest tightness, wheezing, and trouble breathing. The attack happens in your body’s airways, which are the paths that carry air to your lungs. As the air moves through your lungs, the airways become smaller, like the branches of a tree are smaller than the tree trunk. During an asthma attack, the sides of the airways in your lungs swell and the airways shrink. Less air gets in and out of your lungs, and mucous that your body makes clogs up the airways even more.

You can control your asthma by knowing the warning signs of an asthma attack, staying away from things that cause an attack, and following your doctor’s advice. When you control your asthma:

you won’t have symptoms such as wheezing or coughing,

you’ll sleep better,

you won’t miss work or school,

you can take part in all physical activities, and

you won’t have to go to the hospital.

What Causes an Asthma Attack?

An asthma attack can happen when you are exposed to “asthma triggers”. Your triggers can be very different from those of someone else with asthma. Know your triggers and learn how to avoid them. Watch out for an attack when you can’t avoid the triggers. Some of the most common triggers are tobacco smoke, dust mites, outdoor air pollution, cockroach allergen, pets, mold, and smoke from burning wood or grass…. http://www.cdc.gov/asthma/faqs.htm

A 2004 study by Bielory and Gandhi, Asthma and vitamin C examined “what role vitamin C may or may not play in the treatment of asthma.” They concluded:

Clearly from our review, the role of vitamin C in asthma and allergy is not well defined. The majority of the studies were short term and assessed immediate effects of vitamin C supplementation. Long term supplementation with vitamin C or delayed effects need to be studied. Although, the current literature does not support a definite indication for the use of vitamin C in asthma and allergy, the promising and positive studies revive curiosity and interest. With a large portion of health care dollars being spent on alternative medicine and vitamin C in particular, further studies are needed to define its role.

http://www.ncbi.nlm.nih.gov/pubmed/8067602

Some feel vitamin therapy is effective in treating asthma. Web MD lists studies in Vitamins & Supplements Search http://www.webmd.com/vitamins-supplements/condition-1007-Asthma.aspx?diseaseid=1007&diseasename=Asthma

Science Daily reported in Vitamin D does not reduce colds in asthma patients:

Vitamin D supplements do not reduce the number or severity of colds in asthma patients, according to a new study published online ahead of print publication in the American Thoracic Society’s American Journal of Respiratory and Critical Care Medicine.

Loren C. Denlinger, MD, PhD, associate professor of medicine at the University of Wisconsin, and colleagues conducted a randomized, controlled trial of adults with mild-to-moderate asthma. Among African Americans in the study, those receiving supplemental vitamin D, rather than a placebo, experienced more colds.

The findings surprised the researchers who had previously published research showing a 40 percent reduction in asthma exacerbations in patients with a vitamin D deficiency who achieved normal levels of the vitamin with supplements. Because colds often trigger exacerbations, they hypothesized that vitamin D supplementation would reduce colds and cold severity.

“Other studies of vitamin D and colds have produced mixed results,” Dr. Denlinger said. “Most of those studies were conducted among healthy patients. We wanted to ask the same question of a patient population in which the impact of a cold carries greater risk.”

The researchers followed asthma patients who were undergoing inhaled corticosteroid (ICS) tapering, Denlinger added, to test the hypothesis that vitamin D might bolster the potency of the ICS.

The multi-center AsthmaNet Vitamin D Add-on Therapy Enhances Corticosteroid Responsiveness (VIDA) trial enrolled 408 adults with mild-to-moderate asthma whose vitamin D levels were insufficient or deficient (25-OH-D3 < 30 ng/mL). Those enrolled had asthma symptoms despite low-dose ICS therapy. The patients were randomized to receive either vitamin D supplementation (100,000 IU once, then 4000 IU daily) or placebo for 28 weeks. Neither the patients nor their physicians knew whether they received vitamin D or the placebo.

During that time, about half the participants experienced at least one cold. The severity of their colds was measured by the Wisconsin Upper Respiratory Symptom Survey-21 (WURSS-21).

The researchers analyzed separately the results of the 82 percent of participants receiving supplements who achieved vitamin D sufficiency within 12 weeks. Achieving sufficiency made no difference in number of colds or their severity this group experienced.

The researchers wrote that one possible explanation for the unexpected finding: asthma patients with low vitamin D levels may be more likely to experience upper respiratory infections asymptomatically than those with normal levels of vitamin D, which is known to trigger an inflammatory response. This inflammatory response may, in turn, reduce the risk of lower airway infections, which are triggers for asthma exacerbations…… http://www.sciencedaily.com/releases/2015/11/151123103632.htm

Citation:

Vitamin D does not reduce colds in asthma patients

Date:         November 23, 2015

Source:     American Thoracic Society (ATS)

Summary:

Vitamin D supplements do not reduce the number or severity of colds in asthma patients, according to a new study. The findings surprised the researchers who had previously published research showing a 40 percent reduction in asthma exacerbations in patients with a vitamin D deficiency who achieved normal levels of the vitamin with supplements. Because colds often trigger exacerbations, they hypothesized that vitamin D supplementation would reduce colds and cold severity.

Journal Reference:

Loren C. Denlinger, Tonya S King, Juan Carlos Cardet, Timothy Craig, Fernando Holguin, Daniel J Jackson, Monica Kraft, Stephen P Peters, Kristie Ross, Kaharu Sumino, Homer A. Boushey, Nizar N. Jarjour, Michael E Wechsler, Sally E. Wenzel, Mario Castro, Pedro C. Avila. Vitamin D Supplementation and the Risk of Colds in Patients with Asthma. American Journal of Respiratory and Critical Care Medicine, 2015; DOI: 10.1164/rccm.201506-1169OC

Send to:

Am J Respir Crit Care Med. 2015 Nov 5. [Epub ahead of print]

Vitamin D Supplementation and the Risk of Colds in Patients with Asthma.

Denlinger LC¹, King TS², Cardet JC³, Craig T⁴, Holguin F⁵, Jackson DJ⁶, Kraft M⁷, Peters SP⁸, Ross K⁹, Sumino K¹⁰, Boushey HA¹¹, Jarjour NN¹², Wechsler ME¹³, Wenzel SE¹⁴, Castro M¹⁵, Avila PC¹⁶; National Heart Lung and Blood Institute AsthmaNet Investigators.

Author information

Abstract

BACKGROUND:

Restoration of vitamin D sufficiency may reduce asthma exacerbations, events often associated with respiratory tract infections (RTIs) and cold symptoms.

OBJECTIVE:

To determine whether vitamin D supplementation reduces cold symptom occurrence and severity in adults with mild to moderate asthma and vitamin D insufficiency.

METHODS:

Colds were assessed in the AsthmaNet Vitamin D Add-on Therapy Enhances Corticosteroid Responsiveness (VIDA) trial, which randomized 408 adult patients to receive placebo or cholecalciferol (100,000 IU load plus 4,000 IU/day) for 28 weeks as add-on therapy. The primary outcome assessed cold symptom severity using daily Wisconsin Upper Respiratory Symptom Survey (WURSS)-21 scores.

RESULTS:

203 participants experienced at least one cold. Despite achieving 25-hydroxyvitamin D levels of 41.9 ng/mL (95%CI, 40.1-43.7 ng/mL) by 12 weeks, vitamin D supplementation had no effect on the primary outcome, the average peak WURSS-21 scores [62.0 (95% CI 55.1-68.9; placebo) and 58.7 (95% CI 52.4-65.0; vitamin D), p = 0.39]. The rate of colds did not differ between groups (rate ratio [RR] 1.2, 95% CI 0.9 to 1.5); however, among African-Americans those receiving vitamin D vs. placebo had an increased rate of colds (RR 1.7, 95% CI 1.1-2.7, p = 0.02). This was also observed in a responder analysis of all subjects achieving vitamin D sufficiency regardless of treatment assignment (RR 1.4, 95% CI 1.1-1.7, p = 0.009).

CONCLUSION:

In patients with mild-to-moderate asthma undergoing an ICS dose-reduction, these results do not support the use of vitamin D supplementation for the purpose of reducing cold severity or frequency. Clinical trial registration available at http://www.clinicaltrials.gov, ID NCT01248065.

KEYWORDS:

WURSS-21; asthma; upper respiratory tract infection; vitamin D

PMID:

26540136

[PubMed – as supplied by publisher]                                                                                                               http://www.ncbi.nlm.nih.gov/pubmed/26540136

The American Academy of Allergy, Asthma & Immunology (AAAAI) provides the following advice:

People with a family history of allergies or asthma are more prone to developing asthma. Many people with asthma also have allergies. This is called allergic asthma.
Occupational asthma is caused by inhaling fumes, gases, dust or other potentially harmful substances while on the job.

Childhood asthma impacts millions of children and their families. In fact, the majority of children who develop asthma do so before the age of five.

There is no cure for asthma, but once it is properly diagnosed and a treatment plan is in place you will be able to manage your condition, and your quality of life will improve.

An allergist / immunologist is the best qualified physician in diagnosing and treating asthma. With the help of your allergist, you can take control of your condition and participate in normal activities.

Keep pace with the latest information and connect with others. Join us on Facebook and Twitter.

http://www.aaaai.org/conditions-and-treatments/asthma.aspx

It is imperative to seek competent medical advice regarding individual treatment options.

Resources:

Asthma.com

http://www.asthma.com/additional-resources.html

Asthma Health Center

http://www.webmd.com/asthma/guide/asthma-support-resources

Asthma Resources

http://www.webmd.com/asthma/asthma-resources

Where information leads to Hope. © Dr. Wilda.com

Dr. Wilda says this about that ©

Blogs by Dr. Wilda:

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Wayne State University study: Lead exposure in mothers can affect future generations

4 Oct

The increased rate of poverty has profound implications if this society believes that ALL children have the right to a good basic education. Moi blogs about education issues so the reader could be perplexed sometimes because moi often writes about other things like nutrition, families, and personal responsibility issues. Why? The reader might ask? Because children will have the most success in school if they are ready to learn. Ready to learn includes proper nutrition for a healthy body and the optimum situation for children is a healthy family. Many of societies’ problems would be lessened if the goal was a healthy child in a healthy family. There is a lot of economic stress in the country now because of unemployment and underemployment. Children feel the stress of their parents and they worry about how stable their family and living situation is. Sabrina Tavernise wrote an excellent New York Times article, Education Gap Grows Between Rich and Poor, Studies Say http://www.nytimes.com/2012/02/10/education/education-gap-grows-between-rich-and-poor-studies-show.html?emc=eta1 The Centers for Disease Control report:

Today at least 4 million households have children living in them that are being exposed to high levels of lead. There are approximately half a million U.S. children ages 1-5 with blood lead levels above 5 micrograms per deciliter (µg/dL), the reference level at which CDC recommends public health actions be initiated.
No safe blood lead level in children has been identified. Lead exposure can affect nearly every system in the body. Because lead exposure often occurs with no obvious symptoms, it frequently goes unrecognized. CDC’s Childhood Lead Poisoning Prevention Program is committed to the Healthy People 2020 goals of eliminating blood lead levels ≥ 10 µg/dL and differences in average risk based on race and social class as public health concerns. The program is part of the National Center for Environmental Health’s Division of Emergency and Environmental Health Services. http://www.cdc.gov/nceh/lead/

A Wayne State University study finds that lead exposure may affect more than one generation.

Science Daily reported in Lead exposure in mothers can affect future generations:

A team of researchers at Wayne State University have discovered that mothers with high levels of lead in their blood not only affect the fetal cells of their unborn children, but also their grandchildren. Their study, Multigenerational epigenetic inheritance in humans: DNA methylation changes associated with maternal exposure to lead can be transmitted to the grandchildren, was published online this week in Scientific Reports.

It’s a known fact that babies in the womb can be affected by low levels of lead exposure. If a pregnant woman is exposed to lead, the lead passes through the placenta into the baby’s developing bones and other organs. Pregnant women with a past exposure to lead can also affect the unborn child’s brain, causing developmental problems later in life. Previous research studies have suggested that exposure to heavy metal toxicants can influence a person’s global DNA methylation profile….

According to Ruden, epigenetic effects of environmental exposures beyond one generation have not yet been demonstrated in humans prior to this study. He and his team tested the hypothesis that human fetal germ cell exposure to environmental toxins causes epigenetic changes in the newborn blood from a grandchild of an exposed pregnant woman.
“Our results suggest that lead exposure during pregnancy affects the DNA methylation status of the fetal germ cells, which leads to altered DNA methylation in grandchildren’s neonatal dried blood spots,” said Ruden. “This is the first demonstration that an environmental exposure in pregnant mothers can have an epigenetic effect on the DNA methylation pattern in the grandchildren.”

The research team stated that this novel, two-generational study design might be able to identify the genes that may serve as possible candidate biomarkers for future transgenerational risk assessment studies…. http://www.sciencedaily.com/releases/2015/10/151002191739.htm?utm_source=dlvr.it&utm_medium=facebook

Citation:

Lead exposure in mothers can affect future generations
Date: October 2, 2015

Source: Wayne State University – Office of the Vice President for Research

Summary:
Researchers have discovered that mothers with high levels of lead in their blood not only affect the fetal cells of their unborn children, but also their grandchildren.
Journal Reference:
1. Arko Sen, Nicole Heredia, Marie-Claude Senut, Susan Land, Kurt Hollocher, Xiangyi Lu, Mary O. Dereski, Douglas M. Ruden. Multigenerational epigenetic inheritance in humans: DNA methylation changes associated with maternal exposure to lead can be transmitted to the grandchildren. Scientific Reports, 2015; 5: 14466 DOI: 10.1038/srep14466

Here is the press release from Wayne State University:

Wayne State researchers discover evidence that lead exposure in mothers can affect future generations
October 2, 2015

DETROIT – A team of researchers at Wayne State University have discovered that mothers with high levels of lead in their blood not only affect the fetal cells of their unborn children, but also their grandchildren. Their study, Multigenerational epigenetic inheritance in humans: DNA methylation changes associated with maternal exposure to lead can be transmitted to the grandchildren, was published online this week in Scientific Reports.

It’s a known fact that babies in the womb can be affected by low levels of lead exposure. If a pregnant woman is exposed to lead, the lead passes through the placenta into the baby’s developing bones and other organs. Pregnant women with a past exposure to lead can also affect the unborn child’s brain, causing developmental problems later in life. Previous research studies have suggested that exposure to heavy metal toxicants can influence a person’s global DNA methylation profile.
In the recent Wayne State study led by Douglas Ruden, Ph.D., professor in the Department of Obstetrics & Gynecology and the Institute of Environmental Health Sciences, director of epigenomics, and program leader in the Center for Urban Responses to Environmental Stressors, he and his research team revealed that lead exposure can cause specific changes in DNA methylation, which can be detected in dried blood spots beyond one generation. The neonatal blood spots from both the mothers and children in this study were obtained from the Michigan Neonatal Biobank, a unique resource that has most of the neonatal dried blood spots from children born in Michigan since 1984.

According to Ruden, epigenetic effects of environmental exposures beyond one generation have not yet been demonstrated in humans prior to this study. He and his team tested the hypothesis that human fetal germ cell exposure to environmental toxins causes epigenetic changes in the newborn blood from a grandchild of an exposed pregnant woman.
“Our results suggest that lead exposure during pregnancy affects the DNA methylation status of the fetal germ cells, which leads to altered DNA methylation in grandchildren’s neonatal dried blood spots,” said Ruden. “This is the first demonstration that an environmental exposure in pregnant mothers can have an epigenetic effect on the DNA methylation pattern in the grandchildren.”

The research team stated that this novel, two-generational study design might be able to identify the genes that may serve as possible candidate biomarkers for future transgenerational risk assessment studies.
“Our pilot study provides indirect evidence that lead exposure in women during childbirth can affect the locus-specific DNA methylation status of grandchildren,” said Ruden. “However, the altered DNA methylation profiles of the grandchildren’s blood are apparently normalized during postnatal development. Also, fetal germline exposure to lead apparently has different epigenetic consequences than acute childhood exposure.”

This research was supported by the National Institute of Environmental Health Sciences of the National Institutes of Health (R01 ES012933 and R21 ES021893) to Dr. Ruden, the WSU-NIEHS Center (P30 ES020957), and a Michigan Bloodspot Environmental Epidemiology Project (BLEEP) pilot grant from the Michigan University Research Corridor to Dr. Ruden.

Contact: Julie O’Connor
Voice: (313) 577-8845
Email: julie.oconnor@wayne.edu
Fax: (313) 577-3626
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Michael Hawthorne of the Chicago Tribune wrote about lead poisoning.

In Lead poisoning still damaging kids in poor areas, Hawthorne wrote:

One researcher working in Chicago, Anne Evens, recently published a study that draws a sharper focus on how lead is still ravaging the city years after it faded as a local and national issue.
A former chief of lead poisoning prevention at the Chicago Department of Public Health, Evens obtained the lead tests of more than 58,000 children born in the city from 1994 to 1998 and compared the results with how they performed on standardized tests in third grade.

Her peer-reviewed study, published in April in the scientific journal Environmental Health, found that exposure to lead during early childhood significantly increased the chance that a student would fail reading and math tests, even when controlling for other factors such as poverty, race, birth weight and the mother’s education level.
The scope of what Evens found is staggering: At three-quarters of Chicago Public Schools, the average lead level of third-graders exceeded a standard established by the Centers for Disease Control and Prevention in each year from 2003 to 2006….. http://www.abqjournal.com/598520/news/lead-poisoning-still-damaging-kids-in-poor-areas.html

A 2002 Journal of Public Health article, Housing and Health: Time Again for Public Health Action:

Poor housing conditions are associated with a wide range of health conditions, including respiratory infections, asthma, lead poisoning, injuries, and mental health. Addressing housing issues offers public health practitioners an opportunity to address an important social determinant of health. Public health has long been involved in housing issues. In the 19th century, health officials targeted poor sanitation, crowding, and inadequate ventilation to reduce infectious diseases as well as fire hazards to decrease injuries. Today, public health departments can employ multiple strategies to improve housing, such as developing and enforcing housing guidelines and codes, implementing “Healthy Homes” programs to improve indoor environmental quality, assessing housing conditions, and advocating for healthy, affordable housing. Now is the time for public health to create healthier homes by confronting substandard housing…. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1447157/

Substandard housing has been identified as a cause of health issues for decades. The issue is what can or will be done to address the issue.

Unequal exposures: People in poor, non-white neighborhoods breathe more hazardous particles http://www.environmentalhealthnews.org/ehs/news/2012/unequal-exposures

Lead Poisoning http://kids.niehs.nih.gov/explore/pollute/lead.htm

Learn about Lead http://www2.epa.gov/lead/learn-about-lead

Poor Neighborhoods’ Influence On Parents May Raise Preschool Children’s Risk Of Problems http://www.sciencedaily.com/releases/2008/02/080207085613.htm

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Tags: Education Gap Grows Between Rich and Poor, Environmental Stressors, epigenetic effects of environmental exposure, Housing and Health: Time Again for Public Health Action, Lead, Lead exposure in mothers can affect future generations, Lead Poisoning, Lead poisoning still damaging kids in poor areas, Multigenerational epigenetic inheritance in humans: DNA methylation changes associated with maternal exposure to lead can be transmitted to the grandchildren., Pollution, Substandard Housing, The Centers for Disease Control and Prevention, Toxic, Toxins, Wayne State University

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University of California San Francisco study: Dozens of genes associated with autism

29 Oct

Prevalence

It is estimated that between 1 in 80 and 1 in 240 with an average of 1 in 110 children in the United States have an ASD. [Read article]
ASDs are reported to occur in all racial, ethnic, and socioeconomic groups, yet are on average 4 to 5 times more likely to occur in boys than in girls. However, we need more information on some less studied populations and regions around the world. [Read article]
Studies in Asia, Europe, and North America have identified individuals with an ASD with an approximate prevalence of 0.6% to over 1%. A recent study in South Korea reported a prevalence of 2.6%. [Data table ]
Approximately 13% of children have a developmental disability, ranging from mild disabilities such as speech and language impairments to serious developmental disabilities, such as intellectual disabilities, cerebral palsy, and autism. [Read article] http://www.cdc.gov/ncbddd/autism/data.html

In order for children with autism to reach their full potential there must be early diagnosis and treatment.

Science Daily reported in Dozens of genes associated with autism in new research:

Two major genetic studies of autism, led in part by UC San Francisco scientists and involving more than 50 laboratories worldwide, have newly implicated dozens of genes in the disorder. The research shows that rare mutations in these genes affect communication networks in the brain and compromise fundamental biological mechanisms that govern whether, when, and how genes are activated overall.

The two new studies, published in the advance online edition of Nature on October 29, 2014, tied mutations in more than 100 genes to autism. Sixty of these genes met a “high-confidence” threshold indicating that there is a greater than 90 percent chance that mutations in those genes contribute to autism risk.

The majority of the mutations identified in the new studies are de novo (Latin for “afresh”) mutations, meaning they are not present in unaffected parents’ genomes but arise spontaneously in a single sperm or egg cell just prior to conception of a child.

The genes implicated in the new studies fall into three broad classes: they are involved in the formation and function of synapses, which are sites of nerve-cell communication in the brain; they regulate, via a process called transcription, how the instructions in other genes are relayed to the protein-making machinery in cells; and they affect how DNA is wound up and packed into cells in a structure known as chromatin. Because modifications of chromatin structure are known to lead to changes in how genes are expressed, mutations that alter chromatin, like those that affect transcription, would be expected to affect the activity of many genes.

One of the new Nature studies made use of data from the Simons Simplex Collection (SSC), a permanent repository of DNA samples from nearly 3,000 families created by the Simons Foundation Autism Research Initiative. Each SSC family has one child affected with autism, parents unaffected by the disorder and, in a large proportion, unaffected siblings. The second study was conducted under the auspices of the Autism Sequencing Consortium (ASC), an initiative supported by the National Institute of Mental Health that allows scientists from around the world to collaborate on large genomic studies that couldn’t be done by individual labs.

“Before these studies, only 11 autism genes had been identified with high confidence, and we have now more than quadrupled that number,” said Stephan Sanders, PhD, assistant professor of psychiatry at UCSF, co-first author on the SSC study, and co-author on the ASC study. Based on recent trends, Sanders estimates that gene discovery will continue at a quickening pace, with as many as 1,000 genes ultimately associated with autism risk.

“There has been a lot of concern that 1,000 genes means 1,000 different treatments, but I think the news is much brighter than that,” said Matthew W. State, MD, PhD, chair and Oberndorf Family Distinguished Professor in Psychiatry at UCSF. State was co-leader of the Nature study focusing on the SSC and a senior participant in the study organized by the ASC, of which he is a co-founder. ”There is already strong evidence that these mutations converge on a much smaller number key biological functions. We now need to focus on these points of convergence to begin to develop novel treatments….” http://www.sciencedaily.com/releases/2014/10/141029141223.htm

Citation:

Dozens of genes associated with autism in new research

Date:             October 29, 2014

Source:         University of California, San Francisco (UCSF)

Summary:

Two major genetic studies of autism, involving more than 50 laboratories worldwide, have newly implicated dozens of genes in the disorder. The research shows that rare mutations in these genes affect communication networks in the brain and compromise fundamental biological mechanisms that govern whether, when, and how genes are activated overall.

Nature | Article

Synaptic, transcriptional and chromatin genes disrupted in autism

Silvia De Rubeis,

Xin He,

Arthur P. Goldberg,

Christopher S. Poultney,

Kaitlin Samocha,

A. Ercument Cicek,

Yan Kou,

Li Liu,

Menachem Fromer,

Susan Walker,

Tarjinder Singh,

Lambertus Klei,

Jack Kosmicki,

Shih-Chen Fu,

Branko Aleksic,

Monica Biscaldi,

Patrick F. Bolton,

Jessica M. Brownfeld,

Jinlu Cai,

Nicholas G. Campbell,

Angel Carracedo,

Maria H. Chahrour,

Andreas G. Chiocchetti,

Hilary Coon,

Emily L. Crawford

et al.

Affiliations

Contributions

Corresponding authors

Nature

(2014)

doi:10.1038/nature13772

Received

18 May 2014

Accepted

18 August 2014

Published online

29 October 2014

Abstract

Abstract•

The genetic architecture of autism spectrum disorder involves the interplay of common and rare variants and their impact on hundreds of genes. Using exome sequencing, here we show that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate (FDR) < 0.05, plus a set of 107 autosomal genes strongly enriched for those likely to affect risk (FDR < 0.30). These 107 genes, which show unusual evolutionary constraint against mutations, incur de novo loss-of-function mutations in over 5% of autistic subjects. Many of the genes implicated encode proteins for synaptic formation, transcriptional regulation and chromatin-remodelling pathways. These include voltage-gated ion channels regulating the propagation of action potentials, pacemaking and excitability–transcription coupling, as well as histone-modifying enzymes and chromatin remodellers—most prominently those that mediate post-translational lysine methylation/demethylation modifications of histones.                                                                                   http://www.nature.com/nature/journal/vaop/ncurrent/full/nature13772.html

Here is the press release from the University of California San Francisco:

Dozens of Genes Associated with Autism in New Research

Functions of Newly Identified Genes Converge on a Few Important Biological Processes

By Pete Farley on October 29, 2014 | Email | Print

Two major genetic studies of autism, led in part by UC San Francisco scientists and involving more than 50 laboratories worldwide, have newly implicated dozens of genes in the disorder. The research shows that rare mutations in these genes affect communication networks in the brain and compromise fundamental biological mechanisms that govern whether, when, and how genes are activated overall.

The two new studies, published in the advance online edition of Nature on October 29, 2014, tied mutations in more than 100 genes to autism. Sixty of these genes met a “high-confidence” threshold indicating that there is a greater than 90 percent chance that mutations in those genes contribute to autism risk.

The majority of the mutations identified in the new studies are de novo (Latin for “afresh”) mutations, meaning they are not present in unaffected parents’ genomes but arise spontaneously in a single sperm or egg cell just prior to conception of a child.

The genes implicated in the new studies fall into three broad classes: they are involved in the formation and function of synapses, which are sites of nerve-cell communication in the brain; they regulate, via a process called transcription, how the instructions in other genes are relayed to the protein-making machinery in cells; and they affect how DNA is wound up and packed into cells in a structure known as chromatin. Because modifications of chromatin structure are known to lead to changes in how genes are expressed, mutations that alter chromatin, like those that affect transcription, would be expected to affect the activity of many genes.

One of the new Nature studies made use of data from the Simons Simplex Collection (SSC), a permanent repository of DNA samples from nearly 3,000 families created by the Simons Foundation Autism Research Initiative. Each SSC family has one child affected with autism, parents unaffected by the disorder and, in a large proportion, unaffected siblings. The second study was conducted under the auspices of the Autism Sequencing Consortium (ASC), an initiative supported by the National Institute of Mental Health that allows scientists from around the world to collaborate on large genomic studies that couldn’t be done by individual labs.

“Before these studies, only 11 autism genes had been identified with high confidence, and we have now more than quadrupled that number,” said Stephan Sanders, PhD, assistant professor of psychiatry at UCSF, co-first author on the SSC study, and co-author on the ASC study. Based on recent trends, Sanders estimates that gene discovery will continue at a quickening pace, with as many as 1,000 genes ultimately associated with autism risk.

“There has been a lot of concern that 1,000 genes means 1,000 different treatments, but I think the news is much brighter than that,” said Matthew W. State, MD, PhD, chair and Oberndorf Family Distinguished Professor in Psychiatry at UCSF. State was co-leader of the Nature study focusing on the SSC and a senior participant in the study organized by the ASC, of which he is a co-founder. ”There is already strong evidence that these mutations converge on a much smaller number key biological functions. We now need to focus on these points of convergence to begin to develop novel treatments.

Autism, which is marked by deficits in social interaction and language development, as well as by repetitive behaviors and restricted interests, is known to have a strong genetic component. But until a few years ago, genomic research had failed to decisively associate individual genes with the disorder.

The two new studies highlight the factors that have radically changed that picture, State said. One is the advent of next-generation sequencing (NGS), which allows researchers to read each of the “letters” in the DNA code at unprecedented speed. Another is the establishment of the SSC; a 2007 study had suggested that de novo mutations would play a significant role in autism risk, and the SSC was specifically designed to help test that idea by allowing for close comparisons between children with autism and their unaffected parents and siblings. Lastly, collaborative initiatives such as the ASC are enabling teams of researchers around the world to work closely together, pooling their resources to create large datasets with sufficient statistical power to draw valid conclusions.

The large research teams behind each of the two new studies used a form of NGS known as “whole-exome” sequencing, a letter-by-letter analysis of just the portion of the genome that encodes proteins.

In November 2013, a study led by A. Jeremy Willsey, a graduate student in State’s lab, showed that the functional roles of the nine high-confidence autism risk genes that had then been discovered all converged on a single cell type in a particular place in the brain at a particular time during fetal development. Willsey is a co-author on both of the new Nature studies, which State believes will further accelerate our understanding of how the myriad of genes involved in autism affect basic biological pathways in the brain.

“These genes carry really large effects,” State said. “That we now have a bounty of dozens of genes, and a clear path forward to find perhaps hundreds more, provides an incredible foundation for understanding the biology of autism and finding new treatments.”

UCSF is the nation’s leading university exclusively focused on health. Now celebrating the 150th anniversary of its founding as a medical college, UCSF is dedicated to transforming health worldwide through advanced biomedical research, graduate-level education in the life sciences and health professions, and excellence in patient care. It includes top-ranked graduate schools of dentistry, medicine, nursing and pharmacy; a graduate division with world-renowned programs in the biological sciences, a preeminent biomedical research enterprise and top-tier hospitals, UCSF Medical Center and UCSF Benioff Children’s Hospitals.

It is imperative that ALL women receive prenatal care particularly poor and those women at risk of difficult pregnancies. Early diagnosis of autism gives the child the best chance of achieving their potential.

Autism and children of color https://drwilda.com/tag/children-of-color-with-autism/

Archives of Pediatrics and Adolescent Medicine study: Kids with autism more likely to be bullied https://drwilda.com/2012/09/06/archives-of-pediatrics-and-adolescent-medicine-study-kids-with-autism-more-likely-to-be-bullied/

Father’s age may be linked to Autism and Schizophrenia https://drwilda.com/2012/08/26/fathers-age-may-be-linked-to-autism-and-schizophrenia/

Chelation treatment for autism might be harmful https://drwilda.com/2012/12/02/chelation-treatment-for-autism-might-be-harmful/

Journal of American Medical Association study: Folic acid may reduce autism risk https://drwilda.com/tag/folic-acid-in-pregnancy-may-lower-autism-risk/

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Tags: Autism, autism spectrum disorder, diagnosis of autism, Dozens of genes associated with autism in new research, research, science, Synaptic transcriptional and chromatin genes disrupted in autism, The Centers for Disease Control and Prevention, Universerity of Califronia San Francisco

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Categories Dr Wilda

Study: Autism starts from brain changes in the womb

1 Apr

Moi has posted quite a bit about autism. Studies indicate that the incidence of autism is growing in the population. In order for children with autism to reach their full potential there must be early diagnosis and treatment. Alice Park of Time reported in the article, U.S. Autism Rates Jump 30% From 2012:

One in 68 eight-year-olds in the U.S. is now affected by autism spectrum disorder, according to new CDC data. The prevalence of autism has continued to climb upward, from affecting 1 in every 150 eight-year-olds studied in 2000, to 1 in 88 in 2008
One in 68 eight-year-olds in the U.S. is now affected by autism spectrum disorder, according to the latest figures from the Centers for Disease Control (CDC). The data come from the Autism and Developmental Disabilities Monitoring (ADDM) Network, which has tracked the developmental disorder periodically since 2000.
Based on medical or school records (including access to special education services) for a representative group of 5,338 children from 11 sites in 2010, the researchers report in the Morbidity and Mortality Weekly Report (MMWR) that one in 68 met the criteria for an autism spectrum disorder, a 30% increase over the last ADDM survey, released in 2012, based on 2008 data that revealed a one in 88 rate.
Since the ADDM began, the prevalence of autism has continued to climb upward, from affecting one in every 150 eight-year-olds studied in 2000, to one of 110 children studied in 2004 and 2006, to one in 88 in 2008. Now, the government report estimates, 1.2 million children under 21 are affected by some form of autism.
While definitions of autism have changed slightly during that time, experts attribute most of the increase to greater awareness of the developmental disorder among parents, teachers, and doctors. At home, parents are more attuned to signs that their child may not be communicating properly or acquiring the social skills needed to interact with siblings, family and friends. Teachers are also trained to recognize behavioral symptoms in the classroom, and doctors are more comfortable asking about and diagnosing autism disorders by symptoms that usually start appearing around age two…. http://time.com/#40524/u-s-autism-rates-jump-30-from-2012/

Several studies suggest that autism may start in the womb.

Jon Hamilton of NPR reported in the story, Brain Changes Suggest Autism Starts In The Womb:

The symptoms of autism may not be obvious until a child is a toddler, but the disorder itself appears to begin well before birth.
Brain tissue taken from children who died and also happened to have autism revealed patches of disorganization in the cortex, a thin sheet of cells that’s critical for learning and memory, researchers report in the New England Journal of Medicine. Tissue samples from children without autism didn’t have those characteristic patches.
Organization of the cortex begins in the second trimester of pregnancy. “So something must have gone wrong at or before that time,” says Eric Courchesne, an author of the paper and director of the Autism Center of Excellence at the University of California, San Diego.
The finding should bolster efforts to understand how genes control brain development and lead to autism. It also suggests that treatment should start early in childhood, when the brain is capable of rewiring to work around damaged areas.
The study grew out of research by Courchesne on development of the cortex in children with autism. In typical kids, the cortex is “like a layer cake,” he says. “There are six layers, one on top of the other, and in each layer there are different types of brain cells.”
Courchesne suspected that these layers might be altered in the brains of children with autism. So he and a team of researchers studied samples of cortex from 11 children with autism and an equal number of typical kids. The cortex came from areas known to be associated with the symptoms of autism.
In the brain tissue from typical children, the cortex had six distinct layers, each made up of a specific type of cell. But in the children with autism, “there are patches in which specific cells in specific layers seem to be missing,” Courchesne says. So instead of distinct layers, there are disorganized collections of brain cells.
These patches of disorganized cortex would have different effects on the brain depending on where they occur and how many there are, Courchesne says. That could help explain why the symptoms of autism vary so much.
And finding that the damage isn’t everywhere suggests how a child’s brain might compensate by rewiring to avoid the trouble spots, Courchesne says. “That’s one of our guesses about how it is that autistic children, with treatment, very commonly get better,” he says.
The new study appears to confirm research from the University of California, Los Angeles showing that people with autism tend to have genetic changes that could disturb the formation of layers in the cortex.
And it adds to the already considerable evidence that autism starts in the womb, says Dr. Stanley Nelson, a geneticist at UCLA. “The overwhelming set of data is that the problems are existing during brain development, probably as an embryo or fetus,” he says.
But some of the new study’s findings are surprising and even a bit perplexing, Nelson says. For example, it’s odd that only certain bits of brain tissue contain these disorganized cells. “Why is the whole cortex not disorganized?” he says.
It’s also odd that 10 of the 11 children with autism had the same sort of disorganized patches of cortex, Nelson says. That’s not what you would expect with a disorder known to involve many different genes, presumably affecting many different aspects of brain development….http://www.npr.org/blogs/health/2014/03/26/294446735/brain-changes-suggest-autism-starts-in-the-womb?utm_medium=Email&utm_source=share&utm_campaign=storyshare

Citation

Patches of Disorganization in the Neocortex of Children with Autism
Rich Stoner, Ph.D., Maggie L. Chow, Ph.D., Maureen P. Boyle, Ph.D., Susan M. Sunkin, Ph.D., Peter R. Mouton, Ph.D., Subhojit Roy, M.D., Ph.D., Anthony Wynshaw-Boris, M.D., Ph.D., Sophia A. Colamarino, Ph.D., Ed S. Lein, Ph.D., and Eric Courchesne, Ph.D.
N Engl J Med 2014; 370:1209-1219March 27, 2014DOI: 10.1056/NEJMoa1307491
Share:
BACKGROUND
Autism involves early brain overgrowth and dysfunction, which is most strongly evident in the prefrontal cortex. As assessed on pathological analysis, an excess of neurons in the prefrontal cortex among children with autism signals a disturbance in prenatal development and may be concomitant with abnormal cell type and laminar development.
METHODS
To systematically examine neocortical architecture during the early years after the onset of autism, we used RNA in situ hybridization with a panel of layer- and cell-type–specific molecular markers to phenotype cortical microstructure. We assayed markers for neurons and glia, along with genes that have been implicated in the risk of autism, in prefrontal, temporal, and occipital neocortical tissue from postmortem samples obtained from children with autism and unaffected children between the ages of 2 and 15 years.
RESULTS
We observed focal patches of abnormal laminar cytoarchitecture and cortical disorganization of neurons, but not glia, in prefrontal and temporal cortical tissue from 10 of 11 children with autism and from 1 of 11 unaffected children. We observed heterogeneity between cases with respect to cell types that were most abnormal in the patches and the layers that were most affected by the pathological features. No cortical layer was uniformly spared, with the clearest signs of abnormal expression in layers 4 and 5. Three-dimensional reconstruction of layer markers confirmed the focal geometry and size of patches.
CONCLUSIONS
In this small, explorative study, we found focal disruption of cortical laminar architecture in the cortexes of a majority of young children with autism. Our data support a probable dysregulation of layer formation and layer-specific neuronal differentiation at prenatal developmental stages. (Funded by the Simons Foundation and others.)

Parents must pay attention to whether their children are developing within the parameters of what is appropriate for the child’s age.

Resources:

For more information on neurological disorders or research programs funded by the National Institute of Neurological Disorders and Stroke, contact the Institute’s Brain Resources and Information Network (BRAIN) at:
BRAIN
P.O. Box 5801
Bethesda, MD 20824
(800) 352 9424
http://www.ninds.nih.gov

Association for Science in Autism Treatment
P.O. Box 188
Crosswicks, NJ 08515-0188
info@asatonline.org http://www.asatonline.org

Autism National Committee (AUTCOM)
P.O. Box 429
Forest Knolls, CA 94933 http://www.autcom.org

Autism Network International (ANI)
P.O. Box 35448
Syracuse, NY 13235-5448
jisincla@syr.edu http://www.ani.ac

Autism Research Institute (ARI)
4182 Adams Avenue
San Diego, CA 92116
director@autism.com http://www.autismresearchinstitute.com
Tel: 866-366-3361
Fax: 619-563-6840

Autism Science Foundation
419 Lafayette Street
2nd floor
New York, NY 10003
contactus@autismsciencefoundation.org http://www.autismsciencefoundation.org/
Tel: 646-723-3978
Fax: 212-228-3557

Autism Society of America
4340 East-West Highway
Suite 350
Bethesda, MD 20814 http://www.autism-society.org
Tel: 301-657-0881 800-3AUTISM (328-8476)
Fax: 301-657-0869

Autism Speaks, Inc.
2 Park Avenue
11th Floor
New York, NY 10016
contactus@autismspeaks.org http://www.autismspeaks.org
Tel: 212-252-8584 California: 310-230-3568
Fax: 212-252-8676 Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane
Suite 104
Orlando, FL 32814
betty@birthdefects.org
http://www.birthdefects.org
Tel: 407-895-0802

MAAP Services for Autism, Asperger Syndrome, and PDD
P.O. Box 524
Crown Point, IN 46308
info@aspergersyndrome.org http://www.aspergersyndrome.org/
Tel: 219-662-1311
Fax: 219-662-1315

National Dissemination Center for Children with Disabilities
U.S. Dept. of Education, Office of Special Education Programs
1825 Connecticut Avenue NW, Suite 700
Washington, DC 20009
nichcy@aed.org http://www.nichcy.org
Tel: 800-695-0285 202-884-8200
Fax: 202-884-8441

National Institute of Child Health and Human Development (NICHD)
National Institutes of Health, DHHS
31 Center Drive, Rm. 2A32 MSC 2425
Bethesda, MD 20892-2425 http://www.nichd.nih.gov
Tel: 301-496-5133
Fax: 301-496-7101 National Institute on Deafness and Other Communication Disorders Information Clearinghouse
1 Communication Avenue
Bethesda, MD 20892-3456
nidcdinfo@nidcd.nih.gov http://www.nidcd.nih.gov
Tel: 800-241-1044 800-241-1055 (TTD/TTY)

National Institute of Environmental Health Sciences (NIEHS)
National Institutes of Health, DHHS
111 T.W. Alexander Drive
Research Triangle Park, NC 27709
webcenter@niehs.nih.gov http://www.niehs.nih.gov
Tel: 919-541-3345

National Institute of Mental Health (NIMH)
National Institutes of Health, DHHS
6001 Executive Blvd. Rm. 8184, MSC 9663
Bethesda, MD 20892-9663
nimhinfo@nih.gov http://www.nimh.nih.gov
Tel: 301-443-4513/866-415-8051 301-443-8431 (TTY)
Fax: 301-

Father’s age may be linked to Autism and Schizophrenia https://drwilda.com/2012/08/26/fathers-age-may-be-linked-to-autism-and-schizophrenia/

Autism and children of color https://drwilda.com/tag/autism-not-diagnosed-as-early-in-minority-children/

Chelation treatment for autism might be harmful https://drwilda.com/2012/12/02/chelation-treatment-for-autism-might-be-harmful/

University of Connecticut study: Some children with autism may be ‘cured’ with intense early therapy https://drwilda.com/tag/optimal-outcome-in-individuals-with-a-history-of-autism/

Children of older fathers can have genetic issues: Study reports mental illness risk higher https://drwilda.com/2014/02/28/children-of-older-fathers-can-have-genetic-issues-study-reports-mental-illness-risk-higher/

Blogs by Dr. Wilda:

Tags: Austism, Austism and Children of Color, Autism and Bullying, autism spectrum disorder, Brain Changes Suggest Autism Starts In The Womb, chelation treatment, Chelation treatment for autism spectrum disorders A systematic review, children with autism, Controversial Treatment for Autism May Do More Harm Than Good Researchers Find, Patches of Disorganization in the Neocortex of Children with Autism, research, science, speech and language impairments, The Centers for Disease Control and Prevention, The National Institute of Neurological Disorders and Stroke

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Yale study: Abnormalities in placenta may predict autism at birth

26 Aug

Autism is a disease where one should not make assumptions. Many folk of color don’t think that autism affects them. Moi wrote in Autism and children of color:
Lauran Neergaard reported in the Huffington Post article, Autism Not Diagnosed As Early In Minority Children: Study:

Her preliminary research suggests even when diagnosed in toddlerhood, minority youngsters have more severe developmental delays than their white counterparts. She says cultural differences in how parents view developmental milestones, and how they interact with doctors, may play a role.
Consider: Tots tend to point before they talk, but pointing is rude in some cultures and may not be missed by a new parent, Landa says. Or maybe mom’s worried that her son isn’t talking yet but the family matriarch, her grandmother, says don’t worry – Cousin Harry spoke late, too, and he’s fine. Or maybe the pediatrician dismissed the parents’ concern, and they were taught not to question doctors.
It’s possible to detect autism as early as 14 months of age, and the American Academy of Pediatrics recommends that youngsters be screened for it starting at 18 months. While there’s no cure, behavioral and other therapies are thought to work best when started very young.
Yet on average, U.S. children aren’t diagnosed until they’re about 4 1/2 years old, according to government statistics.
And troubling studies show that white kids may be diagnosed with autism as much as a year and a half earlier than black and other minority children, says University of Pennsylvania autism expert David Mandell, who led much of that work. Socioeconomics can play a role, if minority families have less access to health care or less education.
But Mandell says the full story is more complex. One of his own studies, for example, found that black children with autism were more likely than whites to get the wrong diagnosis during their first visit with a specialist.
http://www.huffingtonpost.com/2012/02/28/autism-not-diagnosed-as-early-in-minority-children_n_1306272.html

See, New Study Shows Minority Toddlers with Autism are More Delayed than Affected Caucasian Peers http://www.kennedykrieger.org/overview/news/new-study-shows-minority-toddlers-autism-are-more-delayed-affected-caucasian-peers

KING5 Healthlink reported in the story, Placenta may help diagnose autism after birth:

One in every 50 school children in the United States will be diagnosed with autism. It can take doctors years to identify the disorder, which delays much-needed treatment. But new research may help doctors predict a child’s risk of developing autism — at birth!
Early detection of autism is essential, said Dr. Harvey J. Kliman, a research scientist.
“The brain is completely unformed at birth. We can change behaviors very early,” he said.
A new study suggests that the placenta, which provides nutrients to the baby from the mother, may help doctors diagnose autism shortly after birth.
Researchers analyzed placentas from 217 births and found that in families at high risk for autism, there were more abnormal folds and creases in the placentas.
It will be at least a year before researchers know which children whose placentas were studied will have autism.
Currently, only 10 percent to 15 percent of placentas are ever analyzed, usually because of pregnancy complications or the death of a newborn. http://www.king5.com/health/childrens-healthlink/Placenta-may-help-diagnose-autism-after-birth-220419381.html

Here is the press release from Yale:

Autism risk spotted at birth in abnormal placentas
By Karen N. Peart
April 25, 2013
Abnormal placental folds signal autism risk at birth. (Original illustration by Patrick Lynch, Yale University)
Researchers at the Yale School of Medicine have figured out how to measure an infant’s risk of developing autism by looking for abnormalities in his/her placenta at birth, allowing for earlier diagnosis and treatment for the developmental disorder. The findings are reported in the April 25 online issue of Biological Psychiatry.
One out of 50 children are diagnosed with an autism spectrum disorder in the United States each year, according to the Centers for Disease Control and Prevention (CDC), but the diagnosis is usually made when these children are 3 to 4 years of age or older. By then the best opportunities for intervention have been lost because the brain is most responsive to treatment in the first year of life.
Senior author Dr. Harvey Kliman, research scientist in the Department of Obstetrics, Gynecology & Reproductive Sciences at the Yale School of Medicine, and research collaborators at the MIND Institute at the University of California, Davis, have found that abnormal placental folds and abnormal cell growths called trophoblast inclusions are key markers to identify newborns who are at risk for autism.
Kliman and his team examined 117 placentas from infants of at-risk families, those with one or more previous children with autism. These families were participating in a study called Markers of Autism Risk in Babies – Learning Early Signs. Kliman compared these at-risk placentas to 100 control placentas collected by the UC Davis researchers from the same geographic area.
The at-risk placentas had as many as 15 trophoblast inclusions, while none of the control placentas had more than two trophoblast inclusions. Kliman said a placenta with four or more trophoblast inclusions conservatively predicts an infant with a 96.7% probability of being at risk for autism.
Currently, the best early marker of autism risk is family history. Couples with a child with autism are nine times more likely to have another child with autism. Kliman said that when these at-risk families have subsequent children they could employ early intervention strategies to improve outcomes. “Regrettably couples without known genetic susceptibility must rely on identification of early signs or indicators that may not overtly manifest until the child’s second or third year of life,” said Kliman.
“I hope that diagnosing the risk of developing autism by examining the placenta at birth will become routine, and that the children who are shown to have increased numbers of trophoblast inclusions will have early interventions and an improved quality of life as a result of this test,” Kliman added.
Other authors on the study include Kaitlin Anderson, Kristin Milano, and Saier Ye of Yale University; and Cheryl Walker, Daniel Tancredi, Isaac Pessah, and Irva Hertz-Picciotto of UC Davis.
This work was supported by the National Institutes of Health (1 P01 ES11269 and R01 ES 015359), the U.S. Environmental Protection Agency through the Science to Achieve Results (STAR) program (R829388 and R833292), the MIND Institute at the University of California, Davis, and the Yale University Reproductive and Placental Research Unit.
Citation: Biological Psychiatry, Published online (April 25, 2013)

Citation:

Trophoblast Inclusions Are Significantly Increased in the Placentas of Children in Families at Risk for Autism
Received 15 October 2012; received in revised form 23 February 2013; accepted 10 March 2013. published online 26 April 2013.
Background
Gestation is a critical window for neurodevelopmental vulnerability. This study examined whether the presence of trophoblast inclusions (TIs) in the placenta could serve as a predictor for children at elevated risk for autism spectrum disorder (ASD).
Methods
Placentas were obtained from 117 births in the MARBLES (Markers of Autism Risk in Babies—Learning Early Signs) cohort of families who have one or more previous biological children with ASD, placing their newborn at elevated risk for neurodevelopmental compromise. Control samples were obtained from 100 uncomplicated term pregnancies of multiparous women with one or more typically developing biological children. Frequency of TIs was compared across the two groups.
Results
Placentas from at-risk pregnancies had an eightfold increased odds of having two or more TIs compared with control samples (odds ratio: 8.0, 95% confidence interval: 3.6–18.0). The presence of≥2 TIs yielded a sensitivity of 41% and a specificity of 92% for predicting ASD risk status, whereas≥4 TIs yielded a sensitivity of 19%, a specificity of 99.9%, and a positive likelihood ratio of 242 and conservatively predicted an infant with a 74% probability of being at risk for ASD.
Conclusions
Our findings suggest that the placentas from women whose fetuses are at elevated risk for autism are markedly different from control placentas. These differences are manifested histologically as TIs. Their identification has the possibility of identifying newborns at risk for ASD who might benefit from targeted early interventions aimed at preventing or ameliorating behavioral symptoms and optimizing developmental outcomes. http://www.biologicalpsychiatryjournal.com/article/S0006-3223(13)00249-7/abstract

Parents must pay attention to whether their children are developing within the parameters of what is appropriate for the child’s age.

Resources:

BRAIN
P.O. Box 5801
Bethesda, MD 20824
(800) 352-9424
http://www.ninds.nih.gov

Association for Science in Autism Treatment
P.O. Box 188
Crosswicks, NJ 08515-0188
info@asatonline.org
http://www.asatonline.org

Autism National Committee (AUTCOM)
P.O. Box 429
Forest Knolls, CA 94933
http://www.autcom.org

Autism Network International (ANI)
P.O. Box 35448
Syracuse, NY 13235-5448
jisincla@syr.edu
http://www.ani.ac

Autism Research Institute (ARI)
4182 Adams Avenue
San Diego, CA 92116
director@autism.com
http://www.autismresearchinstitute.com
Tel: 866-366-3361
Fax: 619-563-6840

Autism Science Foundation
419 Lafayette Street
2nd floor
New York, NY 10003
contactus@autismsciencefoundation.org
http://www.autismsciencefoundation.org/
Tel: 646-723-3978
Fax: 212-228-3557

Autism Society of America
4340 East-West Highway
Suite 350
Bethesda, MD 20814
http://www.autism-society.org
Tel: 301-657-0881 800-3AUTISM (328-8476)
Fax: 301-657-0869

Autism Speaks, Inc.
2 Park Avenue
11th Floor
New York, NY 10016
contactus@autismspeaks.org
http://www.autismspeaks.org
Tel: 212-252-8584 California: 310-230-3568
Fax: 212-252-8676 Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane
Suite 104
Orlando, FL 32814
betty@birthdefects.org
http://www.birthdefects.org
Tel: 407-895-0802

MAAP Services for Autism, Asperger Syndrome, and PDD
P.O. Box 524
Crown Point, IN 46308
info@aspergersyndrome.org
http://www.aspergersyndrome.org/
Tel: 219-662-1311
Fax: 219-662-1315

National Dissemination Center for Children with Disabilities
U.S. Dept. of Education, Office of Special Education Programs
1825 Connecticut Avenue NW, Suite 700
Washington, DC 20009
nichcy@aed.org
http://www.nichcy.org
Tel: 800-695-0285 202-884-8200
Fax: 202-884-8441

National Institute of Child Health and Human Development (NICHD)
National Institutes of Health, DHHS
31 Center Drive, Rm. 2A32 MSC 2425
Bethesda, MD 20892-2425
http://www.nichd.nih.gov
Tel: 301-496-5133
Fax: 301-496-7101 National Institute on Deafness and Other Communication Disorders Information Clearinghouse
1 Communication Avenue
Bethesda, MD 20892-3456
nidcdinfo@nidcd.nih.gov
http://www.nidcd.nih.gov
Tel: 800-241-1044 800-241-1055 (TTD/TTY)

National Institute of Mental Health (NIMH)
National Institutes of Health, DHHS
6001 Executive Blvd. Rm. 8184, MSC 9663
Bethesda, MD 20892-9663
nimhinfo@nih.gov
http://www.nimh.nih.gov
Tel: 301-443-4513/866-415-8051 301-443-8431 (TTY)
Fax: 301-

Father’s age may be linked to Autism and Schizophrenia
https://drwilda.com/2012/08/26/fathers-age-may-be-linked-to-autism-and-schizophrenia/

Autism and children of color
https://drwilda.com/tag/autism-not-diagnosed-as-early-in-minority-children/

Archives of Pediatrics and Adolescent Medicine study: Kids with autism more likely to be bullied
https://drwilda.com/2012/09/06/archives-of-pediatrics-and-adolescent-medicine-study-kids-with-autism-more-likely-to-be-bullied/

Chelation treatment for autism might be harmful
https://drwilda.com/2012/12/02/chelation-treatment-for-autism-might-be-harmful/

University of Connecticut study: Some children with autism may be ‘cured’ with intense early therapy https://drwilda.com/tag/optimal-outcome-in-individuals-with-a-history-of-autism/

Blogs by Dr. Wilda:

Tags: american academy of pediatrics, Autism, Autism Not Diagnosed As Early In Minority Children, Children of color with autism, children with autism, Differences in Autism Symptoms Between Minority and Non-Minority Toddlers, Inclusions Are Significantly Increased in the Placentas of Children in Families at Risk for Autism, New Study Shows Minority Toddlers with Autism are More Delayed than Affected Caucasian Peers, Placenta may help diagnose autism after birth, The Centers for Disease Control and Prevention, The National Institute of Neurological Disorders and Stroke

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University of Connecticut study: Some children with autism may be ‘cured’ with intense early therapy

19 Jan

In Autism and children of color, moi said:

Prevalence

It is estimated that between 1 in 80 and 1 in 240 with an average of 1 in 110 children in the United States have an ASD. [Read article]

ASDs are reported to occur in all racial, ethnic, and socioeconomic groups, yet are on average 4 to 5 times more likely to occur in boys than in girls. However, we need more information on some less studied populations and regions around the world. [Read article]

Studies in Asia, Europe, and North America have identified individuals with an ASD with an approximate prevalence of 0.6% to over 1%. A recent study in South Korea reported a prevalence of 2.6%. [Data table ]

Approximately 13% of children have a developmental disability, ranging from mild disabilities such as speech and language impairments to serious developmental disabilities, such as intellectual disabilities, cerebral palsy, and autism. [Read article]

Learn more about prevalence of ASDs »

Learn more about the ADDM Project »

Learn more about the MADDSP Project »

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Prevalence

Risk Factors and Characteristics

Diagnosis

Economic Costs

References

Related Pages

http://www.cdc.gov/ncbddd/autism/data.html

In order for children with autism to reach their full potential there must be early diagnosis and treatment. https://drwilda.com/2012/03/27/autism-and-children-of-color/

Autism Speaks reports about a University of Connecticut study in the post, Study Confirms “Optimal Outcomes”:

Some children diagnosed with autism in early childhood reach “optimal outcomes” with levels of function similar to their typical peers. The findings appear today in the Journal of Child Psychology and Psychiatry.

“Although the diagnosis of autism is not usually lost over time, the findings suggest that there is a very wide range of possible outcomes,” says Thomas Insel, M.D., director of the National Institutes of Mental Health (NIMH). “For an individual child, the outcome may be knowable only with time and after some years of intervention.”

This week’s report is the first in a series of autism studies on optimal outcomes, sponsored by the NIMH. They follow up on earlier reports that a small group of children appear to “lose” their autism diagnosis over time. Some experts have questioned the accuracy of these children’s initial diagnoses. Others argued that simply being able to function in a mainstream classroom doesn’t mean that these children don’t quietly struggle with autism-related disabilities. http://www.autismspeaks.org/science/science-news/study-confirms-%E2%80%9Coptimal-outcomes%E2%80%9D

Here is the University of Connecticut press release:

Researchers Find Possibility of Change in Children Previously Diagnosed with Autism

January 17, 2013

By: Sheila Foran

UConn psychology professor Deborah Fein is the lead author of an article just published in the Journal of Child Psychology and Psychiatry which indicates that some children who are accurately diagnosed with autism in early childhood may lose the symptoms as they grow older.

The article, “Optimal Outcome in Individuals with a History of Autism,” appears in the February 2013 issue of the publication. Co-authors include Professor Marianne Barton, director of clinical training and director of the Psychological Services Clinic in UConn’s Department of Psychology.

Autism Spectrum Disorder and autism are both general terms for a group of complex disorders of brain development. These disorders are characterized, in varying degrees, by difficulties in social interaction and verbal and nonverbal communication, and repetitive behaviors. Statistics from the U.S. Centers for Disease Control and Prevention identify around 1 in 88 American children as being on the autism spectrum.

Fein, UConn Board of Trustees Distinguished Professor of Psychology, has been a leader in autism research since she first worked with children with the disability in the early 1970s. She says the findings in the current study are important, but like much research, raise other questions that are as yet unanswered.

“We want to find out what percentage of children are capable of a favorable outcome, what type of behavioral intervention is necessary, what is it in a child’s brain that allows change to take place,” she says. “One thing we do know is that in virtually every case of a child who loses the symptoms of this disorder, the outcome is due to years of unwavering dedication and hard work by parents, teachers, and the children themselves.”

Study methodology

The study, supported by the National Institutes of Health, consisted of carefully documenting a prior diagnosis of autism in a small group of school-age children and young adults with no current symptoms of the disorder who were functioning on a par with their mainstream peers. These 34 children were considered the Optimal Outcome group. This group was then compared with two other cohorts consisting of 44 children with high-functioning autism and 34 children with typical development.

This report is the first in a series that will probe more deeply into the nature of the change in the status of the Optimal Outcome children. Having at one time been diagnosed with Autism Spectrum Disorder, these young people now appear equal to typically developing peers. The study team is continuing to analyze data on changes in brain function in these children, and attempting to determine whether they have subtle residual social deficits.

Also under review is the type of interventions these children received, and to what extent that intervention is predictive of a successful transition.

“Although the diagnosis of autism is not usually lost over time, the findings suggest that there is a very wide range of possible outcomes,” says Dr. Thomas R. Insel, director of the National Institute of Mental Health. “For an individual child, the outcome may be knowable only with time and after some years of intervention. Subsequent reports from this study should tell us more about the nature of autism, and the role of therapy and other factors in the long-term outcomes for these children.”

Prior studies have examined the possibility of a loss of diagnosis, but questions remained regarding the accuracy of the initial diagnosis and whether children who ultimately appeared similar to their mainstream peers initially had a relatively mild form of autism.

In Fein’s study, early diagnostic reports by clinicians with expertise in autism diagnosis were reviewed by the investigators. As a second step to ensure accuracy, a diagnostic expert without knowledge of the child’s current status reviewed reports in which the earlier diagnosis had been deleted.

The results suggested that children in the Optimal Outcome group had milder social deficits than the high functioning autism group in early childhood, but had other symptoms, related to communication and repetitive behavior, that were as severe as the latter group.

In addition, to be included in the Optimal Outcome group, children had to be in regular education classrooms with no special education services aimed at autism, and not show any signs of problems with language, face recognition, communication, and social interaction.

Ongoing research

While the current study cannot provide information on what percentage of children diagnosed with Autism Spectrum Disorder might eventually lose the symptoms, investigators have collected a variety of information on the children, including structural and functional brain imaging data, psychiatric outcomes, and information on the therapies the children received.

Analysis of that data, which will be reported in subsequent papers, may shed light on questions such as whether the changes in diagnosis resulted from a normalizing of brain function, or if these children’s brains were able to compensate for autism-related difficulties.

According to Fein, “All children with Autism Spectrum Disorder are capable of making progress with intensive therapy, but with our current state of knowledge, most do not achieve the kind of optimal outcome that we are studying. Our hope is that further research will help us better understand the mechanisms of change so that each child can have the best possible life.”

Citation:

Optimal outcome in individuals with a history of autism

Deborah Fein^1,6,

Marianne Barton¹,

Inge-Marie Eigsti¹,

Elizabeth Kelley²,

Letitia Naigles¹,

Robert T. Schultz³,

Michael Stevens⁴,

Molly Helt¹,

Alyssa Orinstein¹,

Michael Rosenthal⁵,

Eva Troyb¹,

Katherine Tyson¹

Article first published online: 16 JAN 2013

DOI: 10.1111/jcpp.12037

© 2013 The Authors. Journal of Child Psychology and Psychiatry © 2013 Association for Child and Adolescent Mental Health.

Journal of Child Psychology and Psychiatry

Volume 54, Issue 2, pages 195–205, February 2013

http://onlinelibrary.wiley.com/doi/10.1111/jcpp.12037/full

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The National Institute of Neurological Disorders and Stroke has an autism fact sheet

A diagnosis of autism can be heartbreaking for families and many cling to any shred of hope that there might be a treatment or a cure. Families have to be careful about the treatments and therapies they seek for their children.

Autism and children of color https://drwilda.com/tag/autism-not-diagnosed-as-early-in-minority-children/

Archives of Pediatrics and Adolescent Medicine study: Kids with autism more likely to be bullied https://drwilda.com/2012/09/06/archives-of-pediatrics-and-adolescent-medicine-study-kids-with-autism-more-likely-to-be-bullied/

Chelation treatment for autism might be harmful https://drwilda.com/2012/12/02/chelation-treatment-for-autism-might-be-harmful/

Blogs by Dr. Wilda:

Tags: Autism, Autism Speaks, autism spectrum disorder, connecticut study, diagnosis of autism, Journal of Child Psychology and Psychiatry., Optimal Outcome in Individuals with a History of Autism, research, science, speech and language impairments, Study Confirms “Optimal Outcomes”, The Centers for Disease Control and Prevention, The National Institute of Neurological Disorders and Stroke

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Abstract

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Researchers Find Possibility of Change in Children Previously Diagnosed with Autism

Optimal outcome in individuals with a history of autism

Journal of Child Psychology and Psychiatry

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Father’s age may be linked to Autism and Schizophrenia https://drwilda.com/2012/08/26/fathers-age-may-be-linked-to-autism-and-schizophrenia/

Autism and children of color https://drwilda.com/tag/autism-not-diagnosed-as-early-in-minority-children/

Archives of Pediatrics and Adolescent Medicine study: Kids with autism more likely to be bullied https://drwilda.com/2012/09/06/archives-of-pediatrics-and-adolescent-medicine-study-kids-with-autism-more-likely-to-be-bullied/

Chelation treatment for autism might be harmful https://drwilda.com/2012/12/02/chelation-treatment-for-autism-might-be-harmful/

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