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

• Published in: Orphanet journal of rare diseases Vol. 19; no. 1; pp. 346 - 11
• Main Authors: Müller, Annelieke R, Boot, Erik, Notermans, Stijn B, Schuengel, Carlo, Henneman, Lidewij, Cornel, Martina C, van Haelst, Mieke M, Alders, Mariëlle, van Karnebeek, Clara D M, Bijl, Bas, Wijburg, Frits A, van Eeghen, Agnies M
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 16.09.2024; BioMed Central; BMC
• Subjects: Adolescent; Adult; Behavioral phenotype; Care and treatment; Child; Child, Preschool; Diagnostics; Diseases; Female; Genetic aspects; Genetic diagnosis; Genetic Testing; Humans; Intellectual disability; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Male; Medical research; Medicine, Experimental; Mental retardation; Middle Aged; Multidisciplinary care; Netherlands; Physiological aspects; Reporting; Retrospective Studies; Young Adult; Netherlands; Caregivers; Care files; Intellectual disability; Diagnostics; Behavioral phenotype; Multidisciplinary care; Genetic testing; Personalized medicine; Psychodiagnostics; Genetic diagnosis
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-024-03323-6

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. 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. 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. 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.