Evidence based practice regarding psychotropic medication for syndrome-related behavioral phenotypes and psychopathology in adults with Prader-Willi syndrome, Fragile X syndrome, and Smith Magenis syndrome

Background In several genetic syndromes that are associated with intellectual disabilities (ID), a specific behavioral phenotype can be identified. Managing behavioral problems and psychopathology in people with ID requires a holistic and multidisciplinary approach. Psychological management is usually preferable over treatment with psychotropic medication. Even though reluctance in prescibing psychotropic medication for people with ID is considered appropriate, prevalence of off-label psychotropic medication use is very high in people with ID. Many adult patients visiting the ID physician may already be on psychotropic medication, or request to start with psychotropic medication. ID physicians responsible for the care for adults with ID with these specific genetic syndromes and their syndrome-related challenging behavior or psychopathology are struggling with the search for optimal treatment. There is still a gap of knowledge concerning adult phenotype and evidence-based interventions for this specific population. ID physicians are therefore in need of recommendations to make informed choices on psychotropic medication in order to improve long-term health outcomes. Aim This research proposal aims to equip ID physicians and psychiatrists with evidence-, practice- and experience-based knowledge and consensus-based recommendations regarding treatment of syndrome-related behavioral phenotypes and psychopathology, so they can provide high quality care to adults with ID. Method We will use several methods to collect data on psychotropic medication use in people with Prader-Willi syndrome (PWS), Smith Magenis syndrome (SMS), and Fragile X syndrome (FXS) to capture different dimensions of knowledge: (1) systematic review of published literature (evidence-based); (2) retrospective file research in outpatient clinics (practice-based) and (3) Delphi method and focus group discussion (experience-based). These methods are selected because they align well with the current available information sources and are complementary in nature and involved perspectives. Implementation The recommendations will be implemented in the revised version of the multidisciplinary guideline “Problem behavior and behavioral disorders in adults with ID”, and in the syndrome-specific recommendations for adults that are used at the outpatient clinics. In addition, results will be incorporated in the curriculum of the specialist education of ID physicians. As requested by patient/parent organizations we will provide an information brochure for physicians. Gaps of knowledge will be identified and will be the basis for future research.