Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents

Area of Science:

• Neurodevelopmental Disorders
• Genetics
• Public Health

Background:

• Fragile X Syndrome (FXS) is a genetic disorder with limited understanding of care needs in young adulthood.
• Patient-driven insights are crucial for improving support systems for young adults with FXS.
• Existing research often focuses on pediatric populations, leaving an information gap for adult care.

Purpose of the Study:

• To investigate the specific care needs and concerns of young adults with Fragile X Syndrome.
• To gather patient-driven information to inform the development of targeted support strategies.
• To identify gender-specific challenges and requirements for adult FXS care.

Main Methods:

• A qualitative study involving 5 young adult patients (aged 18-30) with FXS.
• Interviews and data collection from 33 parents of young adults with FXS.
• Categorization of concerns and care needs using the International Classification of Functioning, Disability, and Health (ICF).

Main Results:

• Concerns identified across 14 domains for males and 13 domains for females with FXS.
• Key issues included physical, psychological, and socio-economical challenges.
• Parents experienced high stress levels and noted a deficit in adult care provider knowledge regarding FXS.

Conclusions:

• Young adults with FXS exhibit diverse needs requiring tailored, gender-specific care approaches.
• Multidisciplinary transitional care and ongoing adult follow-up are essential for managing FXS.
• Addressing parental stress and enhancing adult care provider education are critical for comprehensive FXS support.