Genetic insights into autism spectrum disorder with intellectual disability: a regional population-based study from Northwest China
By
Yanrui Dai
Rui Yao
Tianju Du
Xiaochen Wang
Nan Dou
Feixuan Zhang
Li Liu
June 25, 2026
Clinical Scorecard: Genetic Analysis of Autism Spectrum Disorder with Intellectual Disability: A Population-Based Study from Northwest China
At a Glance
Category Detail
Condition Autism Spectrum Disorder with Intellectual Disability Key Mechanisms Genetic factors including copy number variations and single-nucleotide variations. Target Population Children aged 1 to 10 years with ASD and ID. Care Setting Pediatric rehabilitation hospital
Key Highlights
Positive detection rate of genetic variants in ASD with ID was 36.0%. Significant differences in developmental delay and EEG abnormalities between positive and negative groups. Identified pathogenic genes rarely reported in ASD context. Male-to-female ratio in the study population was 2:1. Severe clinical phenotypes associated with specific genetic variants. Guideline-Based Recommendations
Diagnosis
Utilize DSM-5 criteria and CARS for ASD diagnosis. Management
Incorporate genetic testing in the assessment of ASD with ID. Monitoring & Follow-up
Regular developmental assessments and monitoring of clinical phenotypes. Risks
Increased severity of clinical symptoms associated with specific genetic variants. Patient & Prescribing Data
Children with ASD and ID from Northwest China.
Genetic variants may influence treatment approaches and severity of symptoms.
Clinical Best Practices
Conduct whole-exome sequencing for genetic analysis in ASD cases. Utilize validated assessment scales like ABC and CARS for diagnosis. Related Resources & Content
