Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study

Area of Science:

• Genetics
• Neurodevelopmental Disorders
• Pediatrics

Background:

• Down syndrome (DS) is a genetic neurodevelopmental disorder requiring comprehensive multidisciplinary care.
• Preventing medical complications in DS necessitates a coordinated approach to healthcare, rehabilitation, and social support.

Purpose of the Study:

• To describe the rehabilitation, medical care, and educational/social support for school-aged French patients with Down syndrome.
• To analyze the varying neuropsychological profiles and associated care needs in this population.

Main Methods:

• A mixed-methods study combining quantitative data from a French multicenter study (n=95, ages 4-20) and qualitative data from interviews and focus groups.
• Inclusion criteria encompassed diverse genetic syndromes, with a focus on Down syndrome patients.

Main Results:

• Most DS patients (66%) had moderate intellectual disability (ID), and 18.9% had severe ID.
• While medical supervision was often multidisciplinary, access to specialists was difficult. Educational placement varied by age, with most young children in typical classes and older adolescents in medico-social institutions.
• Access to physiotherapy, psychomotor therapy, and occupational therapy was limited, contrasting with available speech therapy, primarily due to facility space and waiting lists.

Conclusions:

• Children and adolescents with Down syndrome generally receive appropriate care, reflecting improvements in management.
• Despite progress, significant barriers persist in accessing essential health facilities and specialized rehabilitation services for DS patients.