Abstract
BackgroundFOXP1 syndrome is an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, developmental delay, speech and language delays, and externalizing behaviors. We previously evaluated nine children and adolescents with FOXP1 syndrome to better characterize its phenotype. We identified specific areas of interest to be further explored, namely autism spectrum disorder (ASD) and internalizing and externalizing behaviors.MethodsHere, we assess a prospective cohort of additional 17 individuals to expand our initial analyses and focus on these areas of interest. An interdisciplinary group of clinicians evaluated neurodevelopmental, behavioral, and medical features in participants. We report results from this cohort both alone, and in combination with the previous cohort, where possible.ResultsPrevious observations of intellectual disability, motor delays, and language deficits were confirmed. In addition, 24% of the cohort met criteria for ASD. Seventy-five percent of individuals met DSM-5 criteria for attention-deficit/hyperactivity disorder and 38% for an anxiety disorder. Repetitive behaviors were almost universally present (95%) even without a diagnosis of ASD. Sensory symptoms, in particular sensory seeking, were common.LimitationsAs FOXP1 syndrome is a rare disorder, sample size is limited.ConclusionsThese findings have important implications for the treatment and care of individuals with FOXP1 syndrome. Notably, standardized testing for ASD showed high sensitivity, but low specificity, when compared to expert consensus diagnosis. Furthermore, many individuals in our cohort who received diagnoses of attention-deficit/hyperactivity disorder or anxiety disorder were not being treated for these symptoms; therefore, our findings suggest that there may be immediate areas for improvements in treatment for some individuals.
Highlights
Forkhead box P1 (FOXP1) syndrome is an autosomal dominant neurodevelopmental disorder characterized by intellec‐ tual disability, developmental delay, speech and language delays, and externalizing behaviors
Many individuals in our cohort who received diagnoses of attention-deficit/hyper‐ activity disorder or anxiety disorder were not being treated for these symptoms; our findings suggest that there may be immediate areas for improvements in treatment for some individuals
The deletion includes two other genes associated with autosomal dominant disorders: PROK2 associated with hypogonadotropic hypogonadism 4 with or without anosmia (MIM 610628) and ROBO2, associated with vesicoureteral reflux 2 (MIM 610878)
Summary
FOXP1 syndrome is an autosomal dominant neurodevelopmental disorder characterized by intellec‐ tual disability, developmental delay, speech and language delays, and externalizing behaviors. Deep phenotypic characterization of individuals with functional disruptions in high-confidence autism spectrum disorder (ASD) and/or intellectual disability (ID). Trelles et al Molecular Autism (2021) 12:61 risk genes is a key first step in enhancing clinical care and advancing therapeutic development [1, 2]. Individuals with FOXP1 syndrome (including individuals with mutations or deletion impacting the FOXP1 gene) typically present with intellectual disability, speech and language deficits, hypotonia, features of ASD, and mild dysmorphic features [3, 7, 8, 11]
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