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Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
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.
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Genetic testing in autism: how much is enough?

Gail E Herman1, Nathan Henninger, Karen Ratliff-Schaub

  • 1Center for Molecular and Human Genetics, Columbus Children's Research Institute, Columbus, Ohio 43205, USA. hermang@ccri.net

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|May 17, 2007
PubMed
Summary

Genetic testing yields a diagnosis in 10% of children with autism spectrum disorder (ASD). PTEN gene sequencing is recommended for ASD with macrocephaly, while broad metabolic screening is often not beneficial.

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Area of Science:

  • Genetics
  • Pediatrics
  • Neurodevelopmental Disorders

Background:

  • Autism spectrum disorder (ASD) diagnosis relies on behavioral criteria.
  • Genetic factors play a significant role in ASD etiology.
  • Identifying genetic causes can inform prognosis and management.

Purpose of the Study:

  • To determine the diagnostic yield of genetic testing in children with ASD.
  • To identify specific genetic conditions associated with ASD in a clinical setting.

Main Methods:

  • Retrospective chart review of 71 children diagnosed with isolated ASD.
  • Tiered genetic laboratory testing based on clinical guidelines.
  • Analysis of patient demographics, clinical features, and genetic test results.

Main Results:

  • Overall diagnostic yield of genetic testing was 10% (7/71).
  • Identified conditions included chromosomal abnormalities, PTEN mutations (in patients with macrocephaly), and MECP2 mutations (Rett syndrome).
  • Macrocephaly was present in 27% of patients; PTEN sequencing is suggested for this subgroup.

Conclusions:

  • Genetic testing has a moderate diagnostic yield in children with ASD.
  • PTEN gene sequencing is valuable for children with ASD and macrocephaly.
  • Routine metabolic screening is not recommended for ASD without specific indicators.