Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms.
M Pilar Trelles, Tess Levy, Bonnie Lerman and 9 others
PMID 34588003WHAT IT FOUND
Most patients with FOXP1 syndrome have ADHD and anxiety, but only 23% receive treatment.
Autism scores on standard tests are high, yet clinical consensus diagnoses it in just 24%. Therapists should prioritize managing attention and anxiety symptoms over relying solely on autism screening tools.
Key findings
01Seventy-one percent of participants received a consensus diagnosis of ADHD, and anxiety was observed in 47%, yet only 23% were receiving treatment for these conditions.
02Standardized autism instruments showed high sensitivity, but clinical consensus diagnosed ASD in only 24% of participants, indicating these tools may over-identify autism in this population.
03Aggressive behavior was reported in 42% of participants and was linked to poorly treated ADHD and anxiety compounded by limited language abilities.
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 (n = 22) and had a wide age range, limiting the ability to detect genotype-phenotype correlations or age-related changes. The study was conducted at a single center, which may not reflect the variability in services and diagnoses available in community settings. Standardized autism instruments showed low specificity, meaning they may flag autism in individuals who do not meet clinical criteria, potentially leading to misdiagnosis if used in isolation.
Declared interests
The authors declared no competing interests. The study was supported by the Simons Foundation Autism Research Initiative and the National Institutes of Health.
The easy way to misread this
Do not rely solely on standardized autism screening scores to diagnose ASD in patients with FOXP1 syndrome. In this study, 60% scored above cutoffs on these tools, but clinical consensus diagnosed ASD in only 24%. High scores may reflect intellectual disability and language deficits rather than core autism.