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
Cortical Gyrification and Its Relationships With Molecular Measures and Cognition in Children With the FMR1 Premutation
Jun Yi Wang and the study team out of the UC Davis MIND Institute are interested in learning more about the premutation carrier condition in relations to brain development and its impact on cognition. These mental processes impact the higher-level functions of the brain including language, learning new things, and making decisions.
Telehealth-Enabled Behavioral Treatment for Problem Behaviors in Boys With Fragile X Syndrome: A Randomized Controlled Trial
Dr. Hall and his team at Stanford University are learning about potential behavioral treatments for problem behaviors. Previous research suggests that problem behaviors, like aggression, self-injury, and property destruction, may occur at higher rates in individuals with FXS.
A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments
We know that FMRP is expressed throughout our body, including our blood, tissues, and brain. Levels of FMRP in the blood of patients with FXS have been positively correlated with cognitive performance, specifically intelligence quotient and adaptive behavior.
RESEARCH RESULTS ROUNDUP — The authors sought to clarify how often other health-related conditions, such as migraines and sleep problems, occur among women with a premutation.
Cerebellar-Cortical Function and Connectivity during Sensorimotor Behavior in Aging FMR1 Gene Premutation Carriers
RESEARCH RESULTS ROUNDUP — Investigation into how aging as a premutation carrier of the FMR1 gene may affect sensorimotor (exactly as it sounds, both sensory and motor) brain systems.
Inhibition Deficits Are Modulated by Age and CGG Repeat Length in Carriers of the FMR1 Premutation Allele Who Are Mothers of Children with Fragile X Syndrome
RESEARCH RESULTS ROUNDUP — Older mothers of children with Fragile X syndrome who have mid-range CGG repeats (~80–100) may be at increased risk for difficulties with inhibition.