Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms

• DOI: 10.1186/s13229-021-00469-z
• Publication Date: 2021-09-29T12:04:50Z
• Authors: M. Pilar Trelles; Tess Levy; Bonnie Lerman; Paige Siper; Reymundo Lozano; Danielle Halpern; Hannah Walker; Jessica Zweifach; Yitzchak Frank; Jennifer Foss-Feig; Alexander Kolevzon; Joseph Buxbaum
• Keywords: Neurodevelopmental disorder

Abstract Background FOXP1 syndrome is an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, developmental delay, speech and language delays, externalizing behaviors. We previously evaluated nine children adolescents with to better characterize its phenotype. identified specific areas of interest be further explored, namely autism spectrum (ASD) internalizing Methods Here, we assess a prospective cohort additional 17 individuals expand our initial analyses focus on these interest. An interdisciplinary group clinicians neurodevelopmental, behavioral, medical features in participants. report results from this both alone, combination the previous cohort, where possible. Results Previous observations motor deficits were confirmed. In addition, 24% met criteria for ASD. Seventy-five percent DSM-5 attention-deficit/hyperactivity 38% anxiety disorder. Repetitive behaviors almost universally present (95%) even without diagnosis Sensory symptoms, particular sensory seeking, common. Limitations As rare disorder, sample size limited. Conclusions These findings have important implications treatment care syndrome. Notably, standardized testing ASD showed high sensitivity, but low specificity, when compared expert consensus diagnosis. Furthermore, many who received diagnoses or not being treated symptoms; therefore, suggest that there may immediate improvements some individuals.