Clinical Report: Genetic Analysis of Autism Spectrum Disorder with Intellectual Disability
Overview
This study investigates the genetic etiology of autism spectrum disorder (ASD) with intellectual disability (ID) in Northwest China, identifying a positive detection rate of 36.0% among 125 children. Significant differences in clinical phenotypes were observed between positive and negative cases.
Background
Autism spectrum disorder is a neurodevelopmental disorder characterized by impaired social interactions and communication difficulties. The etiology of ASD is complex, with genetic factors playing a significant role.
Data Highlights
Parameter
Value
Sample Size
125
Positive Cases
45
Positive Detection Rate
36.0%
Male-to-Female Ratio
2:1
Copy Number Variations
8
Single-Nucleotide Variations
37
Key Findings
A total of 125 children with ASD and ID were analyzed.
45 positive cases were identified, resulting in a 36.0% positive detection rate.
Significant differences in gross motor developmental delay and abnormal electroencephalograms were noted between positive and negative groups (q < 0.05).
There was a significant difference in ASD severity between the positive and negative groups (χ2 = 10.20, P < 0.01).
Eight cases had copy number variations, while 37 had single-nucleotide variations/insertions and deletions.
Patients with identified genetic variants may present with more complex clinical phenotypes.
Clinical Implications
The findings indicate the potential role of genetic testing in identifying ASD with ID.
Conclusion
This study contributes to the understanding of the genetic factors associated with ASD and ID.
