Delineating the autistic phenotype in children with neurofibromatosis type 1.
Anita K Chisholm, Kristina M Haebich, Natalie A Pride and 15 others
PMID 34983638WHAT IT FOUND
Children with NF1 who screened positive for autism showed social communication deficits similar to idiopathic autism, but their repetitive behaviours were distinct.
They rarely had motor stereotypies, but commonly showed insistence on sameness, such as difficulty with minor changes and noise sensitivity.
Key findings
0163% of the screen-positive NF1 cohort met the ADOS-2 cut-off for autism spectrum, while 34% met all three ADI-R algorithm cut-offs.
02Restricted and repetitive behaviours in NF1 were dominated by 'insistence on sameness' traits like difficulty with minor changes (66%) and noise sensitivity (60%), with minimal motor stereotypies (8%).
03Autistic behaviours measured by gold-standard tools (ADI-R/ADOS-2) were not significantly associated with inattentive ADHD, anxiety, or oppositional defiant symptoms, suggesting the findings reflect autism rather than these comorbidities.
STILL TO COME
How it was doneWhat they foundWhat it means for OTsWhat it means for SLPs
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What it does not show
The study included only children who screened positive for autism on the SRS-2, so the findings do not represent the entire NF1 population. Genetic confirmation was not available for the majority of the cohort, limiting analysis of genotype-phenotype relationships. Participants were excluded if they had severe vision or hearing impairment, or insufficient English, which may affect generalisability. The study was cross-sectional, so it cannot determine causal relationships between autistic behaviours and comorbidities like ADHD or anxiety.
Declared interests
The authors declared no competing interests. The study was supported by grants from the National Health and Medical Research Council of Australia, the Australian Rotary Health, and the Children's Hospital Westmead Research Foundation.
The easy way to misread this
Do not assume that a high SRS-2 score in a child with NF1 confirms an autism diagnosis. The study showed that SRS-2 scores were strongly associated with ADHD and anxiety symptoms, whereas the gold-standard ADI-R and ADOS-2 assessments showed no such associations. Use clinical observation and structured diagnostic tools to distinguish autism from comorbid conditions.