Incontinence in Individuals with Rett Syndrome: A Comparative Study

Frequency and type of incontinence and its association with other variables were assessed in females with Rett Syndrome (RS) (n = 63), using an adapted Dutch version of the ‘Parental Questionnaire: Enuresis/Urinary Incontinence’ (Beetz et al. 1994). Also, incontinence in RS was compared to a control group consisting of females with non-specific (mixed) intellectual disability (n = 26). Urinary incontinence (UI) (i.e., daytime incontinence and nocturnal enuresis) and faecal incontinence (FI) were found to be common problems among females with RS that occur in a high frequency of days/nights. UI and FI were mostly primary in nature and occur independent of participants’ age and level of adaptive functioning. Solid stool, lower urinary tract symptoms and urinary tract infections (UTI’s) were also common problems in females with RS. No differences in incontinence between RS and the control group were found, except for solid stool that was more common in RS than in the control group. It is concluded that incontinence is not part of the behavioural phenotype of RS, but that there is an increased risk for solid stool in females with RS

Establishing diurnal bladder control with the response restriction method : extended study on its effectiveness

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Long-term effectiveness of the response restriction method for establishing diurnal bladder control

Contains fulltext : 76703.pdf (publisher's version ) (Closed access)The long-term effectiveness of the response restriction method for establishing diurnal bladder control was assessed with 48 participants with intellectual disabilities. Intervals of assessment ranged from 28 to 66 months across the individuals following initial baseline. Difference scores in terms of the mean number of toileting accidents per hour were related to participants' stereotypic behaviour and their housing conditions, as these were hypothesized to differentially influence the maintenance of diurnal bladder control. It was found that (a) across all participants there was a statistically significant decrease of the mean number of toileting accidents during follow-up as compared to initial baseline (b) stereotypic behaviour failed to be related to maintenance of bladder control, and (c) housing condition was significantly related to the above dependent variable, in that those living in a residential facility were more likely to wear a diaper again as compared to those living with their family. implications for the clinical practice are discussed

TRIM37 prevents formation of centriolar protein assemblies by regulating Centrobin

TRIM37 is an E3 ubiquitin ligase mutated in Mulibrey nanism, a disease with impaired organ growth and increased tumor formation. TRIM37 depletion from tissue culture cells results in supernumerary foci bearing the centriolar protein Centrin. Here, we characterize these centriolar protein assemblies (Cenpas) to uncover the mechanism of action of TRIM37. We find that an atypical de novo assembly pathway can generate Cenpas that act as microtubule-organizing centers (MTOCs), including in Mulibrey patient cells. Correlative light electron microscopy reveals that Cenpas are centriole-related or electron-dense structures with stripes. TRIM37 regulates the stability and solubility of Centrobin, which accumulates in elongated entities resembling the striped electron dense structures upon TRIM37 depletion. Furthermore, Cenpas formation upon TRIM37 depletion requires PLK4, as well as two parallel pathways relying respectively on Centrobin and PLK1. Overall, our work uncovers how TRIM37 prevents Cenpas formation, which would otherwise threaten genome integrity.Peer reviewe