Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1).
S Eijk, S E Mous, G C Dieleman and 9 others
PMID 29423604WHAT IT FOUND
10.9% of children with NF1 were clinically diagnosed with autism, much higher than the general population.
Screening tools often missed cases or flagged non-autistic children. Clinicians should combine parent questionnaires and direct observation to accurately identify autism in this group.
Key findings
0114 of 128 children with NF1 received a clinical DSM-IV diagnosis of ASD, a prevalence of 10.9%.
02The SRS screening tool had poor positive predictive value, meaning many children with elevated scores did not meet criteria for ASD.
03Combining the ADOS observational assessment with the SRS questionnaire yielded the highest predictive value for identifying ASD.
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 used DSM-IV criteria, which differ from the current DSM-5. The SRS questionnaire was missing for about 20% of the children, though the authors found no significant differences between those who completed it and those who did not. The sample included very young children (aged 2-3), who may not yet have manifested full diagnostic criteria, potentially underestimating prevalence. The study was conducted in a specialized center, so results might not apply to all children with NF1 seen in general practice.
Declared interests
Funded by the Sophia Children's Hospital Fund. No other conflicts of interest are reported.
The easy way to misread this
Do not assume a high score on a screening questionnaire like the SRS means a child has autism. In this study, a positive SRS score had a low probability of confirming a clinical diagnosis, so further observation and assessment are always needed.