Adaptive functioning in children and young adults with monogenic neurodevelopmental disorders.
Emma K Baker, Miya St John, Ruth Braden and 6 others
PMID 39846212WHAT IT FOUND
Adaptive behaviour profiles in children with eight genetic neurodevelopmental disorders varied widely within each diagnosis.
Communication was typically the weakest skill. Co-occurring autism, not ADHD, was linked to more severe impairment. This supports assessing individual needs rather than relying on the genetic label alone.
Key findings
01Communication skills were the weakest adaptive behaviour domain for most of the genetic groups, while socialization or motor skills were often the strongest.
02Individuals within the same genetic diagnosis were spread across five distinct levels of adaptive functioning, from extremely impaired to within normal limits.
03Co-occurring autism was associated with more severe adaptive impairment, whereas ADHD showed no specific pattern across the functioning profiles.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTsWhat it means for SLPs
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What it does not show
Participants were recruited from speech and language research cohorts, so they may have had more severe communication difficulties than the wider population with these genetic conditions. Intellectual disability, autism, and ADHD were largely determined by parent report or clinician inference rather than formal diagnostic assessment for all participants, which may have led to misclassification. Only one measure of adaptive behaviour (Vineland-3) was used, limiting the ability to detect other potential behavioural profiles. Sample sizes for some genetic groups (e.g., BRPF1, FOXP2, DDX3X) were small, which may not reflect the broader population of individuals with these variants.
Declared interests
The authors declared no conflicts of interest. The study was funded by the National Health and Medical Research Council.
The easy way to misread this
Do not assume that a specific genetic diagnosis predicts a uniform adaptive behaviour profile. The study found that individuals with the same genetic condition were spread across all levels of adaptive functioning, from extremely impaired to within normal limits. Clinical assessment must focus on the individual's specific strengths and weaknesses, particularly regarding co-occurring autism, rather than relying on the genetic label to guide intervention.