Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review
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.
Authors
- Clara van Karnebeek (ORCID: https://orcid.org/0000-0003-3352-5631)
- Lidewij Henneman (ORCID: https://orcid.org/0000-0003-3531-0597)
- Mieke M. van Haelst (ORCID: https://orcid.org/0000-0001-7126-2030)
- Annelieke R. Müller (ORCID: https://orcid.org/0000-0002-2672-9989)
- Carlo Schuengel (ORCID: https://orcid.org/0000-0001-5501-3341)
- Frits A. Wijburg (ORCID: https://orcid.org/0000-0002-0950-1368)
- Mariëlle Alders (ORCID: https://orcid.org/0000-0002-7386-4868)
- Erik Boot (ORCID: https://orcid.org/0000-0002-0593-1539)
- Martina C. Cornel (ORCID: https://orcid.org/0000-0002-5397-5544)
- Bas Bijl
- Agnies M. van Eeghen (ORCID: https://orcid.org/0000-0001-8149-8645)
- Stijn B Notermans
Institutions
- Maastricht University (NL)
- Emma Kinderziekenhuis (NL)
- Public Health Ontario (CA)
- Public Health Service of Amsterdam (NL)
- Amsterdam University Medical Centers (NL)
- 's Heeren Loo (NL)
- Amsterdam University of Applied Sciences (NL)
- Vrije Universiteit Amsterdam (NL)
- University of Amsterdam (NL)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-09-16
- DOI
- https://doi.org/10.1186/s13023-024-03323-6
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- 's Heeren Loo
- Amsterdam University Medical Centers