Page 22 - Demo

Chapter 120Chapter 3 illustrates the use of the N-of-1 methodology in a protocol to investigate the effectiveness of methylphenidate for attention-deficit/hyperactivity disorder in children and adults with Smith-Magenis syndrome. In Chapter 4 a protocol of another N-of-1 series is described in which the effectiveness of cannabidiol on complex behavior is investigated in children and adults with Tuberous Sclerosis Complex, Fragile X syndrome, and mucopolysaccharidosis type III.Part II of this thesis focuses on outcome measures for RGNDs and ID with unknown etiology. In Chapter 5 an overview is provided of outcomes and outcome measurement instruments used in clinical trials in RGNDs and ID, and exposes the problem with regard to reporting outcomes and available outcome measurement instruments for this population. In Chapter 6 a newly developed and validated disorder-specific outcome measure for Tuberous Sclerosis Complex is described, called the TSC-PROM, which measures the impact of the disorder on all relevant domains of functioning. Chapter 7 describes an accessibility and feasibility study of experience sampling methods for assessing mental health of individuals with ID, based on a scoping review and stakeholder views.Part III focuses on genetic diagnostics and implementation in ID care, which is a requisite for disorder-specific care. In Chapter 8 the current situation of implementation of genetic diagnoses in multidisciplinary ID care is described and associated clinical and demographic factors to reveal possible health disparities are identified. Finally, in Chapter 9 the findings of all research presented in this thesis are discussed, as well as next steps for the implementation of our findings and directions for future research. Recommendations are provided to foster clinical research for RGNDs and to enable personalized, disorder-specific care for these vulnerable affected individuals.Annelieke Muller sHL.indd 20 14-11-2023 09:07