Toilet Training in Fragile X Syndrome Berry-Kravis, Elizabeth; Kidd, Sharon A; Lachiewicz, Ave M ...
Journal of developmental and behavioral pediatrics,
12/2019, Volume:
40, Issue:
9
Journal Article
Peer reviewed
Open access
To characterize bladder and bowel toileting skill acquisition in children with fragile X syndrome and to identify associated demographic, behavioral, and clinical factors.
Using baseline data from ...the Fragile X Online Registry With Accessible Research Database (FORWARD), bivariate analyses and logistic regression models were used to identify differences between subjects who were and were not bowel and/or bladder trained by the age of 10 years. Cox proportional hazard models were used to assess the rate of completion of toilet training (TT) as a function of sex and autism spectrum disorder (ASD) diagnosis.
In bivariate analyses, male sex, lower language level, inability to write one's name, more impaired intellectual level, ASD, and more severe behavioral deficits all predicted lack of bladder training (n = 313, p < 0.001) and bowel training (n = 300, p = 0.0004-0.0001) by the age of 10 years. In logistic regression models, lower level of language acquisition (p < 0.001) and higher Aberrant Behavior Checklist Irritability scores (p < 0.04) were associated with lower odds of bladder training by the age of 10 years. Lower level of language acquisition (p < 0.001) and ASD (p < 0.025) were associated with lower odds of bowel training by the age of 10 years. For both bladder and bowel training, Cox proportional hazard models indicated that delayed training was associated with male sex, lower levels of language acquisition, and ASD for both bladder training (n = 486; p < 0.001) and bowel training (n = 472; p < 0.001).
These findings emphasize the importance of both slower language development and ASD diagnosis in predicting bowel and bladder training delays and can be used to develop and evaluate targeted approaches to TT based on sex, ASD diagnosis, and other clinical features identified in this study.
Children with a full mutation of Fragile X Syndrome (FXS) have a similar genetic make-up and yield consistently severe cognitive disabilities (CDC, 2018). The goal of this research is to ascertain if ...a cognitive profile exists for these FXS individuals that would enhance the tailoring of the delivery of services for this condition. To advance the development of a cognitive profile the evaluation of cognitive abilities needs to occur within the structure of cognitive theory, such as the evidenced-based, Cattell-Horn-Carroll (CHC) theory. This theory provides the theoretical context from which methodological refinements can be made to detect the relative strengths and weaknesses of FXS individuals. This methodological change is the application of the z-score deviation method (Hessl et al.,2009 & Sansone et al.,2014) to the raw scores of Woodcock-Johnson IV (WJ-IV) Tests of Cognitive Ability for each participant. Due to COVID-19, the assessments were conducted via video conferencing on 16 children with FXS, a novel and successful assessment using the WJ-IV. Results indicated that the mean scores for children with FXS were significantly lower than the average scores on each of the cognitive domains of the third stratum of the CHC profile compared to the norm means for children with developmental delays. A cognitive profile in the children with FXS was evident by the consistent rank orderings of the subtests across individuals. This was demonstrated graphically and statistically, revealing consistent cognitive strengths and weaknesses in this group. The implications for treatment of FXS and future directions of cognitive assessment are discussed.
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