Prospective investigation of FOXP1 syndrome.
Paige M Siper, Silvia De Rubeis, Maria Del Pilar Trelles and 14 others
PMID 29090079WHAT IT FOUND
Children with FOXP1 mutations had delayed speech and language, motor and visual-motor deficits, and universal dysarthria.
Expressive language tested better than receptive. Early PT, SLP, and OT were recommended, not tested.
Key findings
01Early language milestones were delayed in eight of nine children, and expressive language scores were higher than receptive language scores in every participant tested.
02All individuals had delayed motor milestones, and neurological examination showed fine and gross motor coordination deficits and dysarthria in all who were examined.
03All nine participants had ADHD symptoms, and all presented anxiety symptoms in some form.
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 nine children with FOXP1 mutations were described, so the range of speech, motor, cognitive, and behavioral problems may not be stable across patients. The study did not follow the same children over time, so it cannot show how speech, motor, cognitive, or behavioral skills change with age. The age range was wide, and standardized test scores may be affected by age differences. Not all participants completed every measure, so some domains had missing data. The one individual with a large duplication was interpreted as having unknown clinical significance, so their features should not be treated as confirmed FOXP1 syndrome effects. ASD symptoms were common, but only two of eight received a consensus DSM-5 ASD diagnosis, so not all children with FOXP1 mutations meet criteria. The authors' recommendations for early PT, SLP, and OT are clinical suggestions, not tested interventions.
Declared interests
Funding was provided by the Beatrice and Samuel A. Seaver Foundation, private philanthropy, and the National Institute of Mental Health. The supplied text does not report author conflicts of interest.
The easy way to misread this
Do not treat this as evidence that any therapy works. The expressive language advantage is a descriptive finding in nine children, and the authors' recommendation for early PT, SLP, and OT was not tested.