Clinical Genetic Aspects of ASD Spectrum Disorders

Early presumptions opined that autism spectrum disorder (ASD) was related to the rearing of these children by emotionally-distant mothers. Advances in the 1960s and 1970s clearly demonstrated the biologic basis of autism with a high heritability. Recent advances have demonstrated that specific etiol...

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Bibliographic Details
Published inInternational journal of molecular sciences Vol. 17; no. 2; p. 180
Main Author Schaefer, G Bradley
Format Journal Article
LanguageEnglish
Published Switzerland MDPI AG 29.01.2016
MDPI
Subjects
Autism
Autism Spectrum Disorder - diagnosis
Autism Spectrum Disorder - epidemiology
Autism Spectrum Disorder - genetics
copy number variants
diagnostic yield
Epigenesis, Genetic
gene sequencing
Genetic Predisposition to Disease
Genetic Testing
Genomics
Humans
multifactorial inheritance
Review
genomics
copy number variants
gene sequencing
multifactorial inheritance
diagnostic yield
genetic testing
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Summary:Early presumptions opined that autism spectrum disorder (ASD) was related to the rearing of these children by emotionally-distant mothers. Advances in the 1960s and 1970s clearly demonstrated the biologic basis of autism with a high heritability. Recent advances have demonstrated that specific etiologic factors in autism spectrum disorders can be identified in 30%-40% of cases. Based on early reports newer, emerging genomic technologies are likely to increase this diagnostic yield to over 50%. To date these investigations have focused on etiologic factors that are largely mono-factorial. The currently undiagnosed causes of ASDs will likely be found to have causes that are more complex. Epigenetic, multiple interacting loci, and four dimensional causes (with timing as a variable) are likely to be associated with the currently unidentifiable cases. Today, the "Why" is more important than ever. Understanding the causes of ASDs help inform families of important issues such as recurrence risk, prognosis, natural history, and predicting associated co-morbid medical conditions. In the current era of emerging efforts in "personalized medicine", identifying an etiology will be critical in identifying endo-phenotypic groups and individual variations that will allow for tailored treatment for persons with ASD.
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ISSN:1661-6596
1422-0067
DOI:10.3390/ijms17020180