Page 268 - Demo

Chapter 8266Caregivers are often the first to detect possible disorder-specific manifestations. Understanding the etiology of somatic and behavioral manifestations is of great importance for early signaling and to respond adequately. Especially in complex situations, comprehending the cause and support needs contributes to establishment of a shared concept and vision and multidisciplinary management. This may increase empowerment and anticipatory care planning. For legal representatives who take care decisions for the affected individual, we found that individuals with close proximity of their legal representative such as first- and second-degree family member appeared to be more likely to receive genetic testing compared to those with a legal representative other than direct family, such as a professional. Family may be more engaged in health management, and may also directly benefit from a diagnosis by better understanding and acceptance, information on recurrence risks and prenatal diagnostic options, and prognostic value about whether someone could still live at home or need professional caregivers. Additional benefits for the affected individual or family members include supportive care, special education or tools, access to expertise centers and (peer) support groups, and financial and emotional support.24–26Diagnostic care gapIf current local and international (pediatric) guidelines were followed, one would expect that most individuals with ID had been referred to a clinical geneticist.27 However, in our study, only in 40% of individuals with ID reports on genetic etiology were available in care files. A genetic diagnosis was identified in 34% of these individuals, although official results were often not available in the electronic care file system. These results on current clinical practice demonstrate that genetic testing is underutilized, comparable to a previous study in Scotland that reported 41% of individuals with ID had genetic testing with a reported genetic cause for ID in 6%.28We found that more severe levels of ID, lower age, and close proximity of the legal representative’s relationship to the individual were associated with increased reporting of information on genetic etiology, indicating disparities in access to genetic testing. Notably, genetic testing in individuals with ID Annelieke Muller sHL.indd 266 14-11-2023 09:07