Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review.

Autor: Müller AR; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Advisium, 'S Heeren Loo, Amersfoort, The Netherlands., Boot E; Advisium, 'S Heeren Loo, Amersfoort, The Netherlands.; The Dalglish Family 22Q Clinic, Toronto, ON, Canada.; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands., Notermans SB; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., Schuengel C; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Section of Clinical Child and Family Studies, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Henneman L; Department of Human Genetics, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Cornel MC; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., van Haelst MM; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., Alders M; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., van Karnebeek CDM; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., Bijl B; Advisium, 'S Heeren Loo, Amersfoort, The Netherlands., Wijburg FA; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., van Eeghen AM; Emma Center for Personalized Medicine, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands. a.m.vaneeghen@amsterdamumc.nl.; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands. a.m.vaneeghen@amsterdamumc.nl.; Advisium, 'S Heeren Loo, Amersfoort, The Netherlands. a.m.vaneeghen@amsterdamumc.nl.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands. a.m.vaneeghen@amsterdamumc.nl.
Jazyk: angličtina
Zdroj: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Sep 16; Vol. 19 (1), pp. 346. Date of Electronic Publication: 2024 Sep 16.
DOI: 10.1186/s13023-024-03323-6
Abstrakt: Background: Advances in understanding the etiology of intellectual disability (ID) has led to insights in potential (targeted) treatments and personalized care. Implications of ID on health are often complex and require a multidisciplinary approach. The aim was to investigate the reporting of genetic diagnoses in multidisciplinary ID care and to identify associated clinical and demographic factors.
Methods: A retrospective chart review was performed on a randomly selected sample of individuals (n = 380) of a large ID care organization in the Netherlands. Data on genetic etiology, including genetic testing and diagnoses, and clinical and demographic characteristics were collected from files held by multidisciplinary team members.
Results: Reports on genetic etiology were available in 40% of the study sample (n = 151), with a genetic diagnosis recorded in 34% (n = 51), which is 13% of the total sample. In those with reported genetic diagnoses, this was reported in 90% of medical, 39% of psychodiagnostic, and 75% of professional caregivers' files. Older age, mild ID, and the legal representative not being a family member were associated with less reported information on genetic etiology.
Conclusions: This study revealed that genetic diagnoses were often not reported in ID care files. Recommendations were formulated to reduce delay in diagnosis, and enable personalized care for individuals with ID.
(© 2024. The Author(s).)
Databáze: MEDLINE
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