Prader-Willi syndrome: clinical picture, psychosocial support and current management

Area of Science:

• Genetics
• Pediatrics
• Psychology

Background:

• Prader-Willi syndrome (PWS) is a rare genetic disorder affecting approximately 1 in 15,000 live births.
• Raising a child with PWS presents significant challenges for parents, necessitating comprehensive multiprofessional habilitation services.
• This study addresses the need for psychosocial support and evaluates current management strategies for children and adolescents with PWS.

Purpose of the Study:

• To assess the psychosocial support needs of children and adolescents with Prader-Willi syndrome.
• To evaluate the current management practices for PWS in pediatric populations.
• To identify areas where parental support and clinical attention are most required.

Main Methods:

• A questionnaire survey was administered to parents of 58 children and adolescents diagnosed with PWS, aged 5-18 years.
• Data collected covered clinical, diagnostic, and psychosocial aspects of PWS management.
• The study analyzed parental-reported experiences and needs.

Main Results:

• Children with PWS received a diagnosis at an average age of 2.5 years.
• Growth hormone treatment was administered to 72% of the sample, with 63% not being overweight.
• Neuropsychiatric symptoms were prevalent from an early age, with some linked to obesity. Most parents sought information on external resources and future needs, while few required direct family support.

Conclusions:

• The management of eating disorders in PWS appears relatively effective.
• PWS symptoms tend to worsen over time, underscoring the need for continuous parental support throughout childhood and adolescence.
• Increased focus on cognitive idiosyncrasies and clinical indicators of neuropsychiatric issues in PWS is recommended.