Improving prognostication for individuals with FOXP1 syndrome: parent-reported practical and social skills in 52 individuals

Abstract

Parents perceive a lack of prognostic information among the most challenging consequences of having a child with a rare disease. Although the medical phenotype of FOXP1 syndrome, including neurodevelopmental delay, speech impairment, psychiatric problems and congenital malformations is becoming clearer, there is little detailed information about the acquisition of activities of daily living. This study aimed to provide a detailed picture of practical and daily social skills development in individuals with FOXP1 syndrome. In this cross-sectional study, parents were invited to complete an online questionnaire about the medical issues, milestones and practical abilities of their child with FOXP1 syndrome (n = 52, age 2-54 years). We found that individuals with FOXP1 syndrome have great difficulties with both basic and instrumental activities of daily living, but continue to develop their skills into adulthood. Although most individuals learn to perform some basic daily living tasks independently, the majority heavily rely on their parents, many needing 24-7 supervision to support many aspects of daily life up to adulthood. The results of this study can be used to counsel parents after a diagnosis of FOXP1. We include a visual representation of the results for parents in the Supplementary file.