Tag Archives: autism spectrum disorder

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:

  1. 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

  1. Claudia B. Avella-Garcia1,2,3,4,5,
  2. Jordi Julvez1,3,6,*,
  3. Joan Fortuny7,
  4. Cristina Rebordosa7,
  5. Raquel García-Esteban1,3,6,
  6. Isolina Riaño Galán8,
  7. Adonina Tardón6,9,
  8. Clara L. Rodríguez-Bernal10,
  9. Carmen Iñiguez10,
  10. Ainara Andiarena11,12,
  11. Loreto Santa-Marina6,12,13 and
  12. Jordi Sunyer1,3,4,5

+ 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

  1. *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.

Related:

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:

COMMENTS FROM AN OLD FART©

http://drwildaoldfart.wordpress.com/

Dr. Wilda Reviews ©

http://drwildareviews.wordpress.com/

Dr. Wilda ©

https://drwilda.com/

 

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

31 Jan

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 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:

  1. 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.

Related:

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:

COMMENTS FROM AN OLD FART©

http://drwildaoldfart.wordpress.com/

Dr. Wilda Reviews ©

http://drwildareviews.wordpress.com/

Dr. Wilda ©

https://drwilda.com/

 

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

29 Oct

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 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

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.

Related:

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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Children with autism and special needs are often targets of bullying

11 May

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 http://time.com/#40524/u-s-autism-rates-jump-30-from-2012/ In Archives of Pediatrics and Adolescent Medicine study: Kids with autism more likely to be bullied moi wrote:
Science Daily reported in the article, Study Details Bullying Involvement for Adolescents With Autism Spectrum Disorder:

A study based on information collected from 920 parents suggests an estimated 46.3 percent of adolescents with an autism spectrum disorder were the victims of bullying, according to a report published Online First by Archives of Pediatrics & Adolescent Medicine, a JAMA Network publication….http://www.sciencedaily.com/releases/2012/09/120903221126.htm

There are signs that a particular child may be vulnerable to bullying.

In School bullying: Office of Juvenile Justice and Delinquency report, moi wrote:
The Department of Justice’s Office of Juvenile Justice and Delinquency has issued the report, Bullying in Schools: An Overview by Ken Seeley, Martin L. Tombari, Laurie J. Bennett, and Jason B. Dunkle. Among the study’s findings are:

• Bullying is a complex social and emotional phenomenon that plays out differently on an individual level.
• Bullying does not directly cause truancy.
• School engagement protects victims from truancy and low academic achievement.
• When schools provide a safe learning environment in which adults model positive behavior, they can mitigate the negative effects of bullying.
• Any interventions to address bullying or victimization should be intentional, student-focused engagement strategies that fit the context of the school where they are used.
The report makes the following recommendations:
• Increase student engagement.
• Model caring behavior for students.
• Offer mentoring programs.
• Provide students with opportunities for service learning as a means of improving school engagement.
• Address the difficult transition between elementary and middle school (from a single classroom teacher to teams of teachers with periods and class changes in a large school) (Lohaus et al., 2004).
• Start prevention programs early.
• Resist the temptation to use prefabricated curriculums that are not aligned to local conditions.
Increase Student Engagement
Bullied children who remain engaged in school attend class more frequently and achieve more. Challenging academics, extracurricular activities, understanding teachers and coaches, and a focus on the future help keep victimized children engaged in their education (Bausell, 2011). Schools, administrations, and districts that wish to stave off the negative effects of bullying must redouble their efforts to engage each student in school. Typical school engagement strategies include (Karcher, 2005):
• Providing a caring adult for every student through an advisory program or similar arrangement.
• Carefully monitoring attendance, calling home each time a student is absent, and allowing students the ability to make up missed work with support from a teacher.
• Adopting and implementing the National School Climate Standards from the National School Climate Council (2010).
• Promoting and fostering parent and community engagement, including afterschool and summer programs.
• Providing school-based mentorship options for students. http://www.ojjdp.gov/pubs/234205.pdf

See, School Bullying Report Makes Recommendations To Address Issue, Support Victims http://www.huffingtonpost.com/2011/12/17/school-bullying-report-ma_n_1155250.html?ref=email_share https://drwilda.com/2012/09/06/archives-of-pediatrics-and-adolescent-medicine-study-kids-with-autism-more-likely-to-be-bullied/

Christina A. Samuels reported in the Education Week article, Autism Issues Complicate Anti-Bullying Task:

A widely publicized case of two Maryland teenagers charged with assault for bullying a classmate with autism—a classmate who later strongly defended them—illustrates the complexities that schools face with youth whose disabilities are based in social interactions.
Autism spectrum disorder, characterized by social impairment and communication difficulties, leaves some youths less able to recognize teasing or bullying when it occurs, said Ellen F. Murray, a clinical manager at the Center for Autism and Related Disorders in Alexandria, Va.
“They may not even understand teasing if it’s happening right in front of them, much less if it’s behind their back,” said Ms. Murray. “A lot of our kids would definitely not pick up on those social cues and understand the perspective of another student.”
With those challenges in mind, experts say that one way for schools to address bullying of students with autism is to take a step back and examine the entire school environment. And, while social-skills training is commonly a part of the individualized education program, or IEP, for students with autism, such instruction should not be limited just to them, experts say….
Fostering Connections
Schools are using a variety of approaches and individual programs to improve social interactions between students with developmental disabilities such as autism and their typically developing peers.
Peer Adovcacy
The Parent Advocacy Coalition for Educational Rights Center, or PACER, based in Bloomington, Minn., has several bullying-prevention resources for schools, including a toolkit to help start a peer-advocacy program. Such programs use the power of peer influence, and students can often spot problem behavior before adults do.
Positive Behavioral Supports
This schoolwide intervention framework supported by the U.S. Department of Education, offers schools a way to organize and monitor behavioral expectations for students and adults.
Second Step
This program, used in more than 30,000 schools and aimed at students ages 4 to 14, includes in-school lessons on empathy, emotion management, and problem-solving. It also includes lessons for all students in how to recognize, respond to, and report bullying.
Remaking Success
Currently being studied in several schools, this program enlists paraprofessionals who often “shadow” students with disabilities as active coaches on the playground, bringing children together and creating opportunities for joint play. The program has shown some success in expanding the social networks of students.
SOURCES: The National Bullying Prevention Center; StopBullying.gov; Autism Intervention Research Network on Behavioral Health
http://www.edweek.org/ew/articles/2014/05/07/30autism_ep.h33.html?tkn=SQXF7qgMjGrAX60B0LbyHDeFR8O3wkbWbRkr&intc=es

The American Psychological Association (APA) has information about bullying.

The APA has the following suggestions for teachers and administrators:

Be knowledgeable and observant
Teachers and administrators need to be aware that although bullying generally happens in areas such as the bathroom, playground, crowded hallways, and school buses as well as via cell phones and computers (where supervision is limited or absent), it must be taken seriously. Teachers and administrators should emphasize that telling is not tattling. If a teacher observes bullying in a classroom, he/she needs to immediately intervene to stop it, record the incident and inform the appropriate school administrators so the incident can be investigated. Having a joint meeting with the bullied student and the student who is bullying is not recommended — it is embarrassing and very intimidating for the student that is being bullied.
Involve students and parents
Students and parents need to be a part of the solution and involved in safety teams and antibullying task forces. Students can inform adults about what is really going on and also teach adults about new technologies that kids are using to bully. Parents, teachers, and school administrators can help students engage in positive behavior and teach them skills so that they know how to intervene when bullying occurs. Older students can serve as mentors and inform younger students about safe practices on the Internet.
Set positive expectations about behavior for students and adults
Schools and classrooms must offer students a safe learning environment. Teachers and coaches need to explicitly remind students that bullying is not accepted in school and such behaviors will have consequences. Creating an anti-bullying document and having both the student and the parents/guardians sign and return it to the school office helps students understand the seriousness of bullying. Also, for students who have a hard time adjusting or finding friends, teachers and administrators can facilitate friendships or provide “jobs” for the student to do during lunch and recess so that children do not feel isolated or in danger of becoming targets for bullying. http://www.apa.org/helpcenter/bullying.aspx

Stop Bullying.gov has some great advice about bullying.

According to the Stop Bullying.gov article, What You Can Do:

What to Do If You’re Bullied
There are things you can do if you are being bullied:
• Look at the kid bullying you and tell him or her to stop in a calm, clear voice. You can also try to laugh it off. This works best if joking is easy for you. It could catch the kid bullying you off guard.
• If speaking up seems too hard or not safe, walk away and stay away. Don’t fight back. Find an adult to stop the bullying on the spot.
There are things you can do to stay safe in the future, too.
• Talk to an adult you trust. Don’t keep your feelings inside. Telling someone can help you feel less alone. They can help you make a plan to stop the bullying.
• Stay away from places where bullying happens.
• Stay near adults and other kids. Most bullying happens when adults aren’t around.
http://www.stopbullying.gov/kids/what-you-can-do

Even though children are encouraged to report bullying, they often don’t. We must encourage children to report bullying.

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.orghttp://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.eduhttp://www.ani.ac

Autism Research Institute (ARI)
4182 Adams Avenue
San Diego, CA 92116
director@autism.comhttp://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.orghttp://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.orghttp://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.orghttp://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.orghttp://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.govhttp://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.govhttp://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.govhttp://www.nimh.nih.gov
Tel: 301-443-4513/866-415-8051 301-443-8431 (TTY)
Fax: 301-

Related:
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/

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/

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

Dr. Wilda says this about that ©

Blogs by Dr. Wilda:

COMMENTS FROM AN OLD FART© http://drwildaoldfart.wordpress.com/

Dr. Wilda Reviews © http://drwildareviews.wordpress.com/

Dr. Wilda © https://drwilda.com/

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-

Related:

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/

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/

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

Dr. Wilda says this about that ©

Blogs by Dr. Wilda:

COMMENTS FROM AN OLD FART©
http://drwildaoldfart.wordpress.com/

Dr. Wilda Reviews ©
http://drwildareviews.wordpress.com/

Dr. Wilda ©
https://drwilda.com/

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:

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 Adobe PDF file]

  • 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 articleExternal Web Site Icon]

Learn more about prevalence of ASDs »

Learn more about the ADDM Project »

Learn more about the MADDSP Project »

On this Page

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

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

  1. Deborah Fein1,6,
  2. Marianne Barton1,
  3. Inge-Marie Eigsti1,
  4. Elizabeth Kelley2,
  5. Letitia Naigles1,
  6. Robert T. Schultz3,
  7. Michael Stevens4,
  8. Molly Helt1,
  9. Alyssa Orinstein1,
  10. Michael Rosenthal5,
  11. Eva Troyb1,
  12. 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

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.

Related:

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/

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

Dr. Wilda says this about that ©

Blogs by Dr. Wilda:

COMMENTS FROM AN OLD FART©                           http://drwildaoldfart.wordpress.com/

Dr. Wilda Reviews ©                                                 http://drwildareviews.wordpress.com/

Dr. Wilda ©                                                                                       https://drwilda.com/

Chelation treatment for autism might be harmful

2 Dec

In Autism and children of color, moi said:

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 Adobe PDF file]

  • 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 articleExternal Web Site Icon]

Learn more about prevalence of ASDs »

Learn more about the ADDM Project »

Learn more about the MADDSP Project »

On this Page

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/

Science Daily is reporting in the article, Controversial Treatment for Autism May Do More Harm Than Good, Researchers Find:

A controversial treatment for autism spectrum disorder (ASD) is not only ineffective but may be harmful, according to a study conducted by Baylor University researchers. The treatment, known as chelation, attempts to eliminate metals such as mercury from the body.

“The chemical substances used in chelation treatment have a myriad of potentially serious side effects such as fever, vomiting, hypertension, hypotension, cardiac arrhythmias and hypocalcemia, which can cause cardiac arrest,” said Tonya N. Davis, Ph.D., assistant professor of educational psychology in Baylor’s School of Education and co-author of the study.

In one example mentioned in the research, “a 5-year-old with ASD died from cardiac arrest caused by hypocalcemia while receiving intravenous chelation.” And, a 2008 clinical study of chelation treatment for autism was suspended due to potential safety risks associated with chelation.

“Chelation therapy represents the ‘cart before the horse’ scenario where the hypothesis supporting the use of chelation was not validated prior to using it as a form of treatment. Evidence does not support the hypothesis that ASD symptoms are associated with specific levels of metals in the body,” said Davis, supervisor of the Applied Behavior Analysis Program at the Baylor Autism Resource Center.

In the study, Davis and colleagues reviewed the research findings of five published studies on chelation. In the studies, 82 participants ages 3 to 14 received chelation treatment ranging from one to seven months. http://www.sciencedaily.com/releases/2012/11/121129162152.htm#.ULhaUfTdQhk.email

Here is the press release from Baylor University:

Controversial Treatment for Autism May Do More Harm Than Good, Baylor University Researchers Find

Nov. 29, 2012

Follow us on Twitter:@BaylorUMediaCom

Contact: Tonya B. Lewis, (254) 710-4656

WACO, Texas (Nov. 29, 2012) –A controversial treatment for autism spectrum disorder (ASD) is not only ineffective but may be harmful, according to a study conducted by Baylor University researchers.

The treatment, known as chelation, attempts to eliminate metals such as mercury from the body.

“The chemical substances used in chelation treatment have a myriad of potentially serious side effects such as fever, vomiting, hypertension, hypotension, cardiac arrhythmias and hypocalcemia, which can cause cardiac arrest,” said Tonya N. Davis, Ph.D., assistant professor of educational psychology in Baylor’s School of Education and co-author of the study. To view the study, published in Research in Autism Spectrum Disorders, visit http://www.sciencedirect.com/science/article/pii/S1750946712000724.

In one example mentioned in the research, “a 5-year-old with ASD died from cardiac arrest caused by hypocalcemia while receiving intravenous chelation.” And, a 2008 clinical study of chelation treatment for autism was suspended due to potential safety risks associated with chelation.

“Chelation therapy represents the ‘cart before the horse’ scenario where the hypothesis supporting the use of chelation was not validated prior to using it as a form of treatment. Evidence does not support the hypothesis that ASD symptoms are associated with specific levels of metals in the body,” said Davis, supervisor of the Applied Behavior Analysis Program at the Baylor Autism Resource Center.

In the study, Davis and colleagues reviewed the research findings of five published studies on chelation. In the studies, 82 participants ages 3 to 14 received chelation treatment ranging from one to seven months.

Of the five studies, four showed mixed results–some positive and negative outcomes for each of the study participants–and one study showed all positive results. But after closer review, Davis and her research team found “methodological weaknesses” in the studies.

“Several studies used numerous treatments at once in addition to chelation that made it impossible to determine if the positive results could be attributed to chelation alone,” Davis said.

Ultimately, Davis found that the research studies did not support the use of chelation as some have claimed and were “insufficient, which is the lowest level of certainty.”

“The use of chelation to remove metals from the body in order to ameliorate ASD could be seen as unfounded and illogical,” said Davis.

Despite the risks and lack of evidence supporting chelation, in an Internet survey, more than 7 percent of parents said they have tried chelation treatment for their children.

“Other researchers have found that validation of a treatment, or lack thereof, does not appear to have an influence over what treatment parents elect to use. Most parents believe in ‘leaving no stone unturned’ when trying to treat their children with ASD and are willing to try anything they believe might help their child,” Davis said.

Davis and her colleagues hope their findings can help parents make decisions about the course of treatment to undertake for their children.

“My hope is that this research will help parents make informed choices when selecting treatments for their child with ASD. While I understand a parent’s desire to try anything and everything that may help their child, as a researcher, it is difficult to watch a family spend time, money, and resources on interventions that research has found to be ineffective, or worse, potentially dangerous,” Davis said.

Other contributing authors to the study include: Daelynn Copeland and Shanna Attai of Baylor; Mark O’Reilly and Soyeon Kang of The University of Texas at Austin; Russell Lang of Texas State University-San Marcos; Mandy Rispoli of Texas A&M University, Jeff Sigafoos of Victoria University of Wellington, New Zealand; Giulio Lancioni of the University of Bari, Italy, and Austin Mulloy of Virginia Commonwealth University.

ABOUT BAYLOR UNIVERSITY

Baylor University is a private Christian University and a nationally ranked research institution, characterized as having “high research activity” by the Carnegie Foundation for the Advancement of Teaching. The University provides a vibrant campus community for approximately 15,000 students by blending interdisciplinary research with an international reputation for educational excellence and a faculty commitment to teaching and scholarship. Chartered in 1845 by the Republic of Texas through the efforts of Baptist pioneers, Baylor is the oldest continually operating University in Texas. Located in Waco, Baylor welcomes students from all 50 states and more than 80 countries to study a broad range of degrees among its 11 nationally recognized academic divisions. Baylor sponsors 19 varsity athletic teams and is a founding member of the Big 12 Conference.

ABOUT BAYLOR SCHOOL OF EDUCATION

The Baylor School of Education is accredited by the National Council for Accreditation of Teacher Education and consists of four departments: Curriculum and Instruction (preparation for classroom teachers and specialists); Educational Administration (post-graduate preparation for school leadership); Educational Psychology (undergraduate and graduate programs for those who are interested in learning, development, measurement, and exceptionalities); and Health, Human Performance and Recreation (preparing for sport- and health-related careers, athletic training and careers in recreational professions, including churches).The School of Education enrolls more than 1,000 undergraduate students and 300 graduate students, employs 70 faculty, and is one of the few school s in the State of Texas that offers a yearlong teaching internship.

Citation:

Journal Reference:

  1. Tonya N. Davis, Mark O’Reilly, Soyeon Kang, Russell Lang, Mandy Rispoli, Jeff Sigafoos, Giulio Lancioni, Daelynn Copeland, Shanna Attai, Austin Mulloy. Chelation treatment for autism spectrum disorders: A systematic review. Research in Autism Spectrum Disorders, 2013; 7 (1): 49 DOI: 10.1016/j.rasd.2012.06.005

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.

Related:

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/

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

Dr. Wilda says this about that ©

Blogs by Dr. Wilda:

COMMENTS FROM AN OLD FART©                       http://drwildaoldfart.wordpress.com/

Dr. Wilda Reviews ©                                             http://drwildareviews.wordpress.com/

Dr. Wilda ©                                                                                        https://drwilda.com/