Page 93 - Demo

Cannabidiol for severe behavioral manifestations in TSC, MPS III, and FXS914of our patients will have ID, proxy-rated outcome measures applicable to children as well as adults were selected that have been psychometrically considered valid tools to measure aberrant behavior, anxiety, mood, ASD features, and parental stress in ID. The CGI scale is a well-established rating tool applicable to all psychiatric disorders that can easily be used by the practicing clinician and provides an assessment of the clinician’s view of the patient’s global functioning prior to and after initiating a study medication.45 The CGI has two components: the CGI-Severity (CGI-S) which rates illness severity, and the CGI-Improvement (CGI-I) which rates change from the initiation (baseline) of treatment. The CGI can track clinical progress across time and has shown to correlate well with standard, well-known research drug efficacy scales and longer, more tedious and time consuming rating instruments across a wide range of psychiatric diagnoses.68,69 However, the CGI is not goal-oriented and changes do not provide mechanistic insight.Additionally, available syndrome-specific outcome measures will be included for both TSC (TSC-PROM) and MPS III (SBRS). These PROMs focus on syndrome-specific targets that are of relevance to these patients and their functioning and quality of life. A recent validation study of the PROM for adults with TSC has shown that it is a reliable and valid instrument to measure the impact of the disease on functioning, which can be used in clinical and research settings to systematically gain insight into patients’ experiences.48 It covers the physical, mental health domain, activities and participation and environmental factors, addressing the impact of specific TSC manifestations on adult patients’ health-related quality of life (QoL). The SBRS is developed to assess the behavioral phenotype in children with MPS III and its progression and results from treatment over time.49 The SBRS is validated in 25 children with MPS IIIA, aged 2 to 18 years old.70 As there is no specific questionnaire on QoL for FXS and children with TSC, the PedsQL will be used, which is a practical, brief, standardized, generic assessment tool to measure health-related QoL. Next to the pediatric version, an adults version exists which will be used for adults.50Annelieke Muller sHL.indd 91 14-11-2023 09:07