TY - JOUR
T1 - Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms
AU - Trelles, M. Pilar
AU - Levy, Tess
AU - Lerman, Bonnie
AU - Siper, Paige
AU - Lozano, Reymundo
AU - Halpern, Danielle
AU - Walker, Hannah
AU - Zweifach, Jessica
AU - Frank, Yitzchak
AU - Foss-Feig, Jennifer
AU - Kolevzon, Alexander
AU - Buxbaum, Joseph
N1 - Funding Information:
Funding was provided by the Beatrice and Samuel A. Seaver Foundation (MPT, JB, AK, PS), the Whitney Family, Harold Amos Faculty Development Award/Robert Wood Johnson Foundation (RL), and the FOXP1 RareConnect group.
Publisher Copyright:
© 2021, The Author(s).
PY - 2021/12
Y1 - 2021/12
N2 - Background: FOXP1 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. Methods: Here, 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. Results: Previous 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. Limitations: As FOXP1 syndrome is a rare disorder, sample size is limited. Conclusions: These 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.
AB - Background: FOXP1 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. Methods: Here, 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. Results: Previous 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. Limitations: As FOXP1 syndrome is a rare disorder, sample size is limited. Conclusions: These 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.
KW - Anxiety
KW - Attention-deficit/hyperactivity disorder
KW - Autism spectrum disorder
KW - FOXP1 gene
KW - FOXP1 syndrome
KW - Intellectual disability
KW - Neurodevelopment
UR - http://www.scopus.com/inward/record.url?scp=85116093376&partnerID=8YFLogxK
U2 - 10.1186/s13229-021-00469-z
DO - 10.1186/s13229-021-00469-z
M3 - Article
C2 - 34588003
AN - SCOPUS:85116093376
SN - 2040-2392
VL - 12
JO - Molecular Autism
JF - Molecular Autism
IS - 1
M1 - 61
ER -