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Published on: December 7, 2018
Childhood autism and associated comorbidities
Dimitrios I Zafeiriou1, Athena Ververi, Euthymia Vargiami
11st Department of Pediatrics, Aristotle University of Thessaloniki, Egnatia St. 106, 54622 Thessaloniki, Greece. jeff@med.auth.gr
Brain & Development
|November 7, 2006
Summary
Autism is highly heritable, with over 90% genetic influence. This review examines genetic syndromes associated with autism spectrum disorder (ASD) to clarify its complex genetic underpinnings.
Area of Science:
- Neurodevelopmental disorders
- Genetics
- Pediatrics
Background:
- Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder with a heritability exceeding 90%.
- Despite strong genetic links, the precise genetic architecture of ASD remains incompletely understood.
- Numerous genetic syndromes are observed in children with pervasive developmental disorders, suggesting shared etiological factors.
Purpose of the Study:
- To review genetic syndromes associated with pervasive developmental disorders.
- To elucidate the contribution of these syndromes to understanding the etiology and genetic basis of ASD.
- To detail the prevalence and characteristics of each associated genetic syndrome.
Main Methods:
- Literature review of genetic syndromes in children with pervasive developmental disorders.
- Analysis of syndrome prevalence and characteristics.
- Evaluation of the association between genetic syndromes and ASD.
Main Results:
- Identified genetic syndromes include tuberous sclerosis, fragile X, Down syndrome, neurofibromatosis, Angelman syndrome, Prader-Willi syndrome, Gilles de la Tourette syndrome, and Williams syndrome.
- Each syndrome presents unique characteristics and varying prevalence rates.
- The review explores the potential etiological links between these genetic conditions and ASD.
Conclusions:
- Genetic syndromes represent a significant component in the complex etiology of ASD.
- Further research into these syndromes can enhance our understanding of ASD's genetic landscape.
- This review consolidates current knowledge on genetic syndromes contributing to ASD.
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These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
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