Page 254 - Demo

Chapter 8252AbstractPurpose: 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 clients (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). 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.Conclusion: This study revealed that genetic diagnoses were often not reported in ID care files. Recommendations were formulated to reduce delay in diagnosis, and improve personalized care for individuals with ID.Annelieke Muller sHL.indd 252 14-11-2023 09:07