Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study |
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| Affiliation: | 1. Department of Obstetrics and Gynecology, Kyorin University Hospital, Tokyo, Japan;2. Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan;3. Department of Medical Genetics, Tokyo Metropolitan Children''s Medical Center, Tokyo, Japan;1. Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, ul. Sporna 36/50, 91-738, Lodz, Poland;2. Department of Neurology & Epileptology, The Children''s Memorial Health Institute, ul. Dzieci Polskich 20, 04-730, Warsaw, Poland;3. Department of Child Neurology, Medical University of Warsaw, ul. Zwirki I Wigury 63A, 02-097, Warsaw, Poland;1. Department of Pediatrics, University Children''s Hospital, Badajoz, Spain;2. University of Extremadura, Badajoz, Spain;3. Department of Pediatrics, Clinical Genetics Unit, University Children''s Hospital, Badajoz, Spain;4. Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ and Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain;5. Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, Hospital Universitario La Paz, Madrid, Spain;6. Genetics Laboratory, Hospital Infanta Cristina of Badajoz, Badajoz, Spain;7. Dept. of Radiology, Hospital Universitario La Paz, Madrid, Spain;8. CIBERER, ISCIII, Madrid, Spain;9. Chair of Pediatrics, Department of Biomedical Sciences, University of Extremadura, Badajoz, Spain;1. Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark;2. Centre for Rare Diseases, Pediatric and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark;3. Centre for Rare Diseases, Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark;4. Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark;1. Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children''s Hospital, Seoul, South Korea;2. Rare Disease Center, Seoul National University Hospital, Seoul, South Korea |
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| Abstract: | Down syndrome (DS) is a genetic neurodevelopmental disorder. In individuals with DS, a multidisciplinary approach to care is required to prevent multiple medical complications. The aim of this study was to describe the rehabilitation, medical care, and educational and social support provided to school-aged French DS patients with varying neuropsychological profiles. A mixed study was conducted.Quantitative data were obtained from a French multicentre study that included patients aged 4–20 years with diverse genetic syndromes. Qualitative data were collected by semi-structured face-to-face interviews and focus groups. Ninety-five DS subjects with a mean age of 10.9 years were included. Sixty-six per cent had a moderate intellectual disability (ID) and 18.9% had a severe ID. Medical supervision was generally multidisciplinary but access to medical specialists was often difficult. In terms of education, 94% of children under the age of six were in typical classes. After the age of 15, 75% were in medico-social institutions. Analysis of multidisciplinary rehabilitation conducted in the public and private sectors revealed failure to access physiotherapy, psychomotor therapy and occupational therapy, but not speech therapy. The main barrier encountered by patients was the difficulty accessing appropriate facilities due to a lack of space and long waiting lists. In conclusion, children and adolescents with DS generally received appropriate care. Though the management of children with DS has been improved considerably, access to health facilities remains inadequate. |
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| Keywords: | Down syndrome Intellectual deficiency Multidisciplinary care Social support Educational support |
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