Autism in neurofibromatosis type 1: prevalence, phenotype and clinical implications.
Jonathan M Payne, Kristina M Haebich, Anita K Chisholm and 20 others
PMID 42387549WHAT IT FOUND
In children with neurofibromatosis type 1, 28.1% met autism criteria and 51.5% had clinically significant autistic traits.
Boys and girls were equally affected. Those below the autism threshold had similar functional difficulties, so supports may be needed without a diagnosis.
Key findings
01In the 192 evaluable children with NF1, 54 (28.1%) met DSM-5-TR criteria for autism, 43 (22.4%) had a broader autistic phenotype, and 95 (49.5%) had no evidence of autistic traits.
02Autism diagnosis was equally common in boys and girls with NF1: 30 of 104 males and 24 of 88 females met criteria.
03Children with NF1 who had autism or a broader autistic phenotype showed similar elevated ADHD symptoms, anxiety, depression, executive dysfunction, reduced prosocial skills, and lower adaptive functioning compared with children with NF1 who had no autistic traits and TD controls.
STILL TO COME
How it was doneWhat they foundWhat it means for OTsWhat it means for SLPs
Read the rest of this summary
You get three full summaries a month, free, and we do not ask for a card. Search, the TL;DRs and your library stay unlimited either way.
What it does not show
Autism diagnostic assessments were done only for children who screened positive on the SRS-2, so a small number of autism cases may have been missed. Ten of 107 children with elevated SRS-2 scores were not evaluable by the diagnostic panel. The prevalence estimate used 192 participants. No genotype data were available, so the study could not examine NF1 microdeletions or other genetic modifiers. The study was cross-sectional, so it cannot show how autistic traits, cognition, behavior, or adaptive skills change over time. Children were recruited from specialist NF1 clinics, which may limit generalizability. The authors note the prevalence estimates align with a prior population-based study. The socioeconomic trend toward more autism diagnoses in higher-risk families did not meet the prespecified significance threshold.
Declared interests
The article states that the funders had no role in study design, data collection, data analysis, data interpretation, or writing. The supplied text does not give a funding source or author conflict-of-interest list.
The easy way to misread this
Do not assume that children with NF1 who do not meet autism criteria have mild or negligible needs. In this study, children with subthreshold autistic traits showed similar ADHD, anxiety, depression, executive, prosocial, and adaptive difficulties to children with diagnosed autism.