Early development of infants with neurofibromatosis type 1: a case series.
Anna May Kolesnik, Emily Jane Harrison Jones, Shruti Garg and 3 others
PMID 29204259WHAT IT FOUND
At 10 months, ten infants with NF1 showed motor and communication delays; social engagement and temperament appeared typical.
This small series cannot guide treatment.
Key findings
01Infants with NF1 had lower gross motor scores than all four comparison groups.
02Infants with NF1 had lower expressive language scores than all other groups.
03There were no significant group differences in Vineland socialisation or parent-reported temperament.
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
Only ten infants with NF1 were assessed, and later ASD outcomes are not yet known. The assessments were research tools, not clinical diagnosis. Eight of ten NF1 infants had familial NF1, because familial cases are detected earlier; this may limit representativeness. The comparison infants came from a historical BASIS cohort collected by different teams, and only five NF1 infants completed the AOSI. Sensory and social engagement measures lacked comparison data, so those parts are case descriptions only. The comparison infants were slightly younger than the NF1 infants, although age was controlled. No treatment was tested, so the paper cannot show that therapy helps.
Declared interests
Funded by Action Medical Research, Medical Research Council, Autistica, FP7 Ideas: European Research Council, and H2020 Excellent Science. The supplied text does not state author conflicts of interest.
The easy way to misread this
Do not read these delays as evidence that therapy improves NF1 or that all infants will develop ASD. The study was a small descriptive series, the measures were research not clinical, and later ASD outcomes are not yet known.