Authors: Elizabeth Berry-Kravis, Sharon Kidd, Ave M. Lachiewicz, Tse Hwei Choo, Nicole Tartaglia, Devadrita Talapatra, Christina Aguirre-Kolb, Howard Andrews, and Karen Riley
Toilet training issues can be burdensome and a significant problem for families with children affected by Fragile X syndrome (FXS). This groundbreaking study utilized FORWARD data on 633 individuals with FXS to fill the gap for much needed information on when children with FXS learn bladder and bowel toileting skills. By characterizing toileting milestones in children with FXS, this study helps to shed light on the factors causing delays in toilet training.
Language, behavioral irritability, and autism spectrum disorder (ASD) diagnoses presented as the main factors in predicting bowel and bladder training delays. ASD diagnosis and gender had a strong impact on age of toilet training. Males and individuals with a co-diagnosis of ASD showed a significant delay in learning toilet training skills. By five years of age, almost 100% of females achieve bladder toilet training versus 70% of females with a co-diagnosis of ASD. In comparison, about 50% of males with FXS alone achieved bladder training by age five and 35% of males with a co-diagnosis of ASD achieved bowel toilet training at the same age.
Why This Is Important
This important study will allow practitioners to inform families about the typical toilet training process and what to expect with toilet training efforts in a thoughtful, informed, and encouraging manner. These findings will help providers develop and evaluate specifically targeted toilet training approaches based on gender, ASD diagnosis, and other clinical features identified in this study.
What Are the Next Steps
The data presented in this report will serve as an important reference for evaluating the effectiveness of new toileting interventions in future research.
Dr. Jennifer Epstein presented on this topic using the FORWARD data in her presentation, “Toilet Training Across the Lifespan in FXS,” during the Fragile X Across the Lifespan event in the 17th NFXF International Fragile X Conference Virtual Series, summer 2020.
more research results
Language Across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment
RESEARCH RESULTS ROUNDUP — Describe cognition and language in FXS using the data from a large group, while trying to understand if the standard assessments are feasible (able to be done accurately) and valid (reflect reality) in FXS and then compared the assessment results to caregiver report.
RESEARCH RESULTS ROUNDUP — What restricted and repetitive behaviors looked like in 154 individuals with FXS, 2–50 years old, based on age, ASD diagnosis, and IQ score.
Pharmacologic Interventions for Irritability, Aggression, Agitation, and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis
RESEARCH RESULTS ROUNDUP — The psychopharmacologic management of irritability, agitation, aggression, and self-injurious behaviors and drug therapy treatment.
RESEARCH RESULTS ROUNDUP — This research can help identify preventive care services that patients with FXS may need and focus on reaching recommended preventative care objectives.
RESEARCH RESULTS ROUNDUP — Researchers have updated and validated a series of tests within the NIH Toolbox (NIHTB) to assess cognition in people with intellectual disability.