Publications by authors named "K Motil"
Introduction: The clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.
Methods: Clinical outcome assessments for the top 10 priority domains identified in the Voice of the Patient Report for Rett syndrome were compiled and available psychometric data were extracted.
Gastrointestinal manifestations of Rett syndrome: An updated analysis using the Gastrointestinal Health Questionnaire.
J Pediatr Gastroenterol Nutr
January 2025
Article Synopsis
- A nationwide survey was conducted using the Gastrointestinal Health Questionnaire (GHQ) to evaluate the prevalence of gastrointestinal (GI) issues in females with Rett syndrome (RTT), as reported by their parents.
- The survey included parents of 118 females with RTT and 27 age-matched, unaffected females, revealing high rates of GI symptoms such as constipation (81%) and eating difficulties (73%).
- The findings highlight the significant prevalence of GI problems in RTT, suggesting a need for better recognition and management to improve the quality of life for affected individuals.
Objectives: Individuals with neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), often experience a higher prevalence of gastrointestinal (GI) symptoms but have complex medical and behavioral comorbidities that make diagnosis and treatment difficult. A multi-stakeholder conference was convened to (a) determine patient and family experiences related to GI symptoms in NDDs, (b) review the clinicians' and researchers' perspectives, and (c) determine actionable steps for future research.
Methods: The Consortium for Autism, Neurodevelopmental Disorders and Digestive Diseases (CANDID; www.
Article Synopsis
- - Over 90% of individuals with Rett syndrome (RTT) experience gastrointestinal (GI) comorbidities, but many healthcare providers do not consider managing these issues a top priority in treatment.
- - Trofinetide, the first drug approved for RTT, has shown improvements in symptoms but can lead to GI side effects like diarrhea and vomiting, highlighting the need for better management strategies.
- - The authors advocate for a proactive approach to treating GI issues in RTT patients, using both clinical experience and literature recommendations to improve drug tolerance and enhance quality of life.
Background/aims: We aimed to develop a validated patient-reported Gastrointestinal Health Scale (GHS) specific to MECP2 Duplication Syndrome (MDS) to be used in clinical trials.
Methods: MDS parents completed a Gastrointestinal Health Questionnaire (GHQ) to investigate the most relevant and important items associated with gastrointestinal problems in MECP2-related disorders. Item reduction was executed according to EORTC guidelines.