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SNAP-25 Polymorphisms in Autism Spectrum Disorder: A Pilot Study towards a Possible Endophenotype.
Martina Maria Mensi1, Franca Rosa Guerini2, Michele Marchesi3
1Child Neuropsychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy.
Pediatric Reports
|December 22, 2023
Summary
Genetic variations in SNAP-25 may influence autism severity and attention deficits. Specific SNAP-25 polymorphisms are linked to lower IQ and more pronounced autistic features in children with autism spectrum disorder.
Area of Science:
- Neurogenetics
- Developmental Neuroscience
- Psychiatric Genetics
Background:
- Autism spectrum disorder (ASD) presents with diverse clinical manifestations, complicating diagnosis and intervention.
- Attentional difficulties are a common comorbidity in ASD.
- Synaptosome-associated protein 25 (SNAP25) is crucial for neurotransmission and has been implicated in psychiatric disorders and hyperactivity in ASD.
Purpose of the Study:
- To investigate the association between SNAP-25 gene polymorphisms and clinical/behavioral characteristics in children with ASD.
- To explore potential endophenotypes related to SNAP-25 variations in severe ASD cases with attentional difficulties.
Main Methods:
- Clinical, behavioral, and neuropsychological data were collected from 41 children diagnosed with ASD.
- Participants were genotyped for five single-nucleotide polymorphisms (SNPs) of the SNAP-25 gene.
- Children were stratified based on their Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) Severity Score.
Main Results:
- Significant associations were found between the SNAP-25 rs363050 (A/G) polymorphism and clinical data in the high-severity ASD group.
- Children with the GG genotype at rs363050 exhibited lower total IQ scores.
- The GG genotype was also associated with more severe autistic functioning and greater attentional difficulties.
Conclusions:
- The SNAP-25 rs363050 polymorphism may be a genetic marker associated with severe autistic functioning and attentional deficits.
- This finding could inform the identification of specific endophenotypes within the autism spectrum.
- Further research into SNAP-25 genetics may aid in personalized treatment strategies for ASD.
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