Autism News

Levels of Select PCB and PBDE Congeners in Human Postmortem Brain Reveal Possible Environmental Involvement in 15q11-q13 Duplication Autism Spectrum Disorder.

Source: 
Environmental and Molecular Genetics
Date Published: 
August 29, 2012
Abstract: 

These results demonstrate a novel paradigm by which specific POPs may predispose to genetic copy number variation of 15q11-q13.

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics.

Source: 
Cell
Date Published: 
March 16, 2012
Abstract: 

A proportion of risk for schizophrenia, bipolar disorder, and autism can be explained by rare mutations. Alleles can have specific effects on behavioral and neuroanatomical traits; however, expressivity is variable, particularly for neuropsychiatric phenotypes

A Research Strategy to Discover the Environmental Causes of Autism and Neurodevelopmental Disabilities

Source: 
Environmental Health Perspectives
Abstract: 

To begin formulation of a systematic strategy for discovery of potentially preventable environmental causes of autism and other NDDs, the Mount Sinai Children’s Environmental Health Center convened a workshop on “Exploring the Environmental Causes of Autism and Learning Disabilities.” This workshop produced a series of papers by leading researchers and generated a list of 10 chemicals and mixtures widely distributed in the environment that are already suspected of causing developmental neurotoxicity.

Maternal Metabolic Conditions and Risk for Autism and other Neurodevelopmental Disorders

Source: 
Pediatrics
Date Published: 
May, 2012
Abstract: 

Maternal metabolic conditions may be broadly associated with neurodevelopmental problems in children. With obesity rising steadily, these results appear to raise serious public health concerns.

Rate of De Novo Mutations and the Importance of Father’s Age to Disease Risk

Source: 
Nature
Date Published: 
August 23, 2012
Abstract: 

The diversity in mutation rate of SNP's is dominated by the age of the father at conception of the child. The effect is an increase of about two mutations per year.

A Novel Approach of Homozygous Haplotype Sharing Identifies Candidate Genes in Autism Spectrum Disorder

Source: 
Human Genetics
Date Published: 
April, 2012
Abstract: 

A large scale analysis identifies candidate genes which may contain low-frequency recessive variations contributing to ASD

The Genetic Variability and Commonality of Neurodevelopmental Disease

Source: 
American Journal of Medical Genetics; Part C, Seminars in Medical Genetics
Date Published: 
May 15, 2012
Abstract: 

Copy Number Variations suggest that the distinction between milder neuropsychiatric conditions from those of severe developmental impairment may be a consequence of increased mutational burden affecting more genes

A Common X-linked Inborn Error of Carnitine Biosynthesis May be a Risk Factor for Nondysmorphic Autism.

Source: 
Proceedings of the National Academy of Sciences of the United States of America
Date Published: 
May 22, 2012
Abstract: 

These data suggest that dysregulation of carnitine metabolism may be important in nondysmorphic autism; that abnormalities of carnitine intake, loss, transport, or synthesis may be important in a larger fraction of nondysmorphic autism cases; and that the carnitine pathway may provide a novel target for therapy or prevention of autism.

Day and Nighttime Excretion of 6-sulphatoxymelatonin in Adolescents and Young Adults with Autistic Disorder

Source: 
Psychoneuroendocrinology
Date Published: 
December, 2012
Abstract: 

Low melatonin excretion was observed in autism, both at daytime, nighttime, and during 24h collection. Nocturnal excretion of melatonin was negatively correlated with autism severity in the overall level of verbal language, imitative social play, and repetitive use of objects.

Sleep Disruption as a Correlate to Cognitive and Adaptive Behavior Problems in Autism Spectrum Disorders

Source: 
Research in Developmental Disabilities
Date Published: 
October, 2012
Abstract: 

The results indicate that quality of sleep, especially sleep duration, may be related to problems with day-time cognitive and adaptive functioning in children with autism and PDD-NOS.