Behavioral, social and school functioning in children with Pompe disease

Area of Science:

• Pediatric Neurology
• Child Psychology
• Rare Diseases

Background:

• Pompe disease is a rare genetic disorder affecting muscle function.
• Children with Pompe disease require ongoing management, including enzyme replacement therapy.
• Understanding the psychosocial impact of Pompe disease is crucial for comprehensive care.

Purpose of the Study:

• To assess behavioral, social, and emotional functioning in children and adolescents with Pompe disease.
• To identify specific challenges faced by individuals with infantile-onset Pompe disease (IPD) and late-onset Pompe disease (LOPD).
• To evaluate the utility of standardized behavior checklists in this population.

Main Methods:

• Parents of 21 children (5-18 years) with IPD or LOPD completed behavior checklists (CBCL, Conners-3, BRIEF2).
• Data were analyzed using descriptive statistics to summarize findings for IPD and LOPD groups.
• Educational service utilization was also surveyed.

Main Results:

• Most children with Pompe disease exhibited age-appropriate behavior.
• Children with IPD showed higher rates of negative mood, learning problems, social difficulties, and attention issues compared to peers.
• Children with LOPD reported fewer behavioral issues but some mood and peer relation difficulties.

Conclusions:

• Standardized behavior checklists are effective screening tools for identifying behavioral, emotional, and social concerns in children with Pompe disease.
• Early identification facilitates timely intervention and support.
• These tools can guide personalized treatment and educational strategies.