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Published on: September 6, 2024
Autism spectrum features in Smith-Magenis syndrome.
Gonzalo Laje1, Rebecca Morse, William Richter
1Intramural Research Program at the National Institute of Mental Health, NIH, Bethesda, MD 20892-1851, USA.
Summary
Smith-Magenis syndrome (SMS) is linked to autism spectrum disorder (ASD) in 90% of cases. Early diagnosis and autism interventions may benefit individuals with SMS, particularly females.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Psychiatry
Background:
- Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder caused by a deletion in chromosome 17p11.2, often involving the RAI1 gene.
- Autistic-like behaviors emerge in children with SMS around 18 months of age.
Purpose of the Study:
- To investigate the prevalence of autism spectrum disorder (ASD) symptoms in individuals with SMS.
- To explore potential sex-based differences in ASD symptom presentation within the SMS population.
Main Methods:
- A cohort of 26 individuals with confirmed 17p11.2 deletion (SMS) completed the Social Responsiveness Scale (SRS) and Social Communication Questionnaire (SCQ).
- Parent/caregiver-reported data were analyzed for ASD symptom severity and diagnostic consistency.
Main Results:
- 90% of the SMS sample scored consistent with ASD on the SRS.
- Females with SMS exhibited significantly greater impairment in social cognition and autistic mannerisms compared to males.
- SCQ scores indicated that a majority of individuals may meet ASD criteria over their lifetime.
Conclusions:
- SMS should be considered in the differential diagnosis of ASD.
- Therapeutic interventions developed for ASD are likely beneficial for individuals with SMS.
- Further research into gene-brain-behavior interactions in SMS and ASD is warranted.
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