Developmental trajectories in infants and pre-school children with Neurofibromatosis 1.
Hannah Slevin, Fiona Kehinde, Jannath Begum-Ali and 8 others
PMID 39407332WHAT IT FOUND
Children with NF1 showed slower cognitive and motor development from 5 months, with clear differences by 24 months.
Autism traits were high at 24 months but dropped at 36 months, likely due to remote testing. Screen and refer for intervention by age 2.
Key findings
01Children with NF1 demonstrated slower trajectories in cognitive and adaptive motor skills compared to typically developing peers, with differences becoming clear by 24 months.
02Almost half of the NF1 group met instrumental thresholds for autism traits at 24 months, compared to none of the typically developing children.
03ADHD traits were significantly higher in the NF1 group, though only 10.5% reached the clinically significant range at 36 months.
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
The sample size was small (35 NF1, 29 TD) and attrition was high; only 8 NF1 and 15 TD children completed all five visits. The TD group had higher maternal education levels than the NF1 group, which was adjusted for statistically but may still influence developmental trajectories. The NF1 cohort was predominantly composed of children with inherited NF1 (91%), as sporadic cases are often diagnosed later, potentially limiting generalisability to all children with NF1. Autism assessment methods changed due to the COVID-19 pandemic, with 41% of the NF1 group assessed remotely using the BOSA-MV at 36 months compared to 11% at 24 months. This may explain the apparent reduction in autism traits at 36 months. The study used research instrumental thresholds for autism rather than gold-standard clinical best estimates.
Declared interests
The authors declare no competing interests. The study was supported by the Neurofibromatosis Association and the NIHR.
The easy way to misread this
Do not interpret the drop in autism trait prevalence from 48% at 24 months to 31% at 36 months as evidence that these traits resolve. The authors state this reduction is likely due to the shift to remote assessment (BOSA-MV) for many participants at the later time point, not a genuine change in the children's development.