Profiling Autism and Attention Deficit Hyperactivity Disorder Traits in Children with SYNGAP1-Related Intellectual Disability.
Damien Wright, Aisling Kenny, Lindsay A M Mizen and 2 others
PMID 38055183WHAT IT FOUND
Parents reported high autistic traits in 30 children with SYNGAP1-ID, especially repetitive behaviours and peer difficulties.
In 19 who completed Conners, 16 of 19 had an ADHD probability above 50%. Only 12 had an ASD diagnosis and 2 had an ADHD diagnosis.
Key findings
0129 children with SYNGAP1-ID scored above the SRS cut-off, and 21 scored above the SCQ cut-off.
0216 of 19 SYNGAP1-ID children who completed the Conners had an ADHD probability index above 50%, but only 2 had a formal ADHD diagnosis.
03Higher autistic trait scores were associated with lower non-verbal IQ in the SYNGAP1-ID group.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
The study is cross-sectional, so it cannot show how traits change over time or whether age causes differences. The sample was small, especially for clustering, which used 18 and 12 children for autism traits and 9 and 10 children for ADHD traits. Parents or caregivers reported the behaviours, and no direct child assessment was used, so the scores may reflect caregiver impression rather than measured ability. Non-verbal IQ was available for only 30 children, with 20 with SYNGAP1-ID and 10 controls, and only children who could travel to the research site were tested. The control group was recruited from family members and a contact database, not a general population sample. There was no comparison group with intellectual disability but without SYNGAP1-ID, so the study cannot separate SYNGAP1-ID-specific traits from effects of intellectual disability. Autistic trait scores were linked to lower non-verbal IQ, and the paper notes that the SRS may have limited diagnostic value in significant intellectual disability. Some subgroup differences, such as verbal versus non-verbal status on certain SRS subscales, did not survive correction for multiple tests.
Declared interests
The supplied text names funders: Simons Initiative for the Developing Brain, Wellcome Trust Institutional Strategic Support Fund, and Patrick Wild Centre. It does not state author conflicts of interest.
The easy way to misread this
Do not treat these parent-reported scores as diagnostic evidence that every child with SYNGAP1-ID has autism or ADHD. Only 12 of 30 had a formal ASD diagnosis, only 2 had an ADHD diagnosis, and higher autistic trait scores were associated with lower non-verbal IQ.