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Improving prognostication for individuals with FOXP1 syndrome: Parent-reported practical and social skills in 52
Saskia Koene1, Marieke Rothuizen-Lindenschot2, Fabienne G Ropers3
1Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Insights
Individuals with FOXP1 syndrome face significant challenges in daily living skills. While they develop abilities into adulthood, most require substantial lifelong parental support and supervision.
Area of Science:
- Rare Diseases
- Neurodevelopmental Disorders
- Activities of Daily Living
Background:
- FOXP1 syndrome is a rare genetic disorder with a known phenotype including neurodevelopmental delay and speech impairment.
- Limited information exists regarding the acquisition of activities of daily living (ADL) in individuals with FOXP1 syndrome.
- Prognostic information is crucial for parents managing children with rare diseases.
Purpose of the Study:
- To detail the development of practical and daily social skills in individuals with FOXP1 syndrome.
- To provide insights into the acquisition of basic and instrumental activities of daily living.
Main Methods:
- A cross-sectional study involving 52 participants with FOXP1 syndrome (aged 2-54 years).
- Parents completed an online questionnaire detailing medical issues, milestones, and practical abilities.
- Data collected focused on the acquisition and independence levels in daily living tasks.
Main Results:
- Individuals with FOXP1 syndrome experience significant difficulties with both basic and instrumental ADL.
- Skill development continues into adulthood, with most individuals achieving some independence in basic tasks.
- A majority require substantial parental support, often 24/7 supervision, throughout their lives.
Conclusions:
- FOXP1 syndrome significantly impacts daily living skills, necessitating lifelong support.
- Findings offer crucial data for counseling parents post-diagnosis.
- Visual representations of results are provided to aid parental understanding.
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.
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