Sleep disturbance in Mowat–Wilson syndrome

Abstract

Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome caused by a heterozygous mutation or deletion of the ZEB2 gene. It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, congenital heart defects, microcephaly, short stature, hypotonia, and Hirschsprung disease. The current study investigated sleep disturbance in people with MWS. In a series of unstructured interviews focused on development and behaviors in MWS, family members frequently reported sleep disturbance, particularly early-morning waking and frequent night waking. The Sleep Disturbance Scale for Children (SDSC) was therefore administered to a sample of 35 individuals with MWS, along with the Developmental Behaviour Checklist (DBC) to measure behavioral and emotional disturbance. A high level of sleep disturbance was found in the MWS sample, with 53% scoring in the borderline range and 44% in the clinical disorder range for at least one subscale of the SDSC. Scores were highest for the Sleep-wake transition disorders subscale, with 91% of participants reaching at least the borderline disorder range. A significant positive association was found between total scores on the SDSC and the DBC Total Behaviour Problem Score. These results suggest that sleep disorders should be screened for in people with MWS, and where appropriate, referrals to sleep specialists made for management of sleep problems.

Incontinence in individuals with genetic syndromes associated with intellectual disability

“…In the present sample, behavioral symptoms were present in 39.1% of individuals with MWS which is similar to the rates of Evans et al (33.3%) in a comparable group (Evans et al, 2012). These psychological symptoms were also related to sleep problems (Evans et al, 2016). In the present study no significant associations between psychological symptoms and incontinence were found, in contrast to other genetic syndromes with mild ID (Noonan, Williams, Fragile-X-Syndrome) .…”

“…Further descriptions of MWS point out the happy demeanor, sociability and frequent laughter, but also selfinjuring and hyperactive behavior (Adam, Justice, Bean, & Fernhoff, 2008;. Sleep disturbances with an association to psychological problems are also found in MWS (Evans, Mowat, Wilson, & Einfeld, 2016). Intelligence in MWS is mostly in the range of severe ID (Evans et al, 2012;.…”

Neurological Phenotype of Mowat-Wilson Syndrome

“…Evans et al studied sleep disturbances with the administration of the “Sleep Disturbance Scale for Children” (SDSC) questionnaire [ 70 ]. They found a high level of sleep disturbance in MWS patients, with the highest scores on the Sleep–Wake transition disorders subscale (91% of patients reaching at least the borderline score).…”

“…They suggested that SDSC could be considered an instrument to evaluate and monitor sleep in the syndrome [ 64 ]. Both studies emphasized the importance of screening for sleep disorders and their potential treatment, such as melatonin, benzodiazepines, or niaprazine [ 64 , 70 ].…”

The impact of nutrition on sleep in people with an intellectual disability: An integrative literature review

“…Faleiros‐Castro and Paula (2013) included feedback from individuals with intellectual disabilities during the development of the data collection tools. Evans et al (2016) invited professionals working with individuals with an intellectual disability to review the results to verify the themes drawn from focus groups. No other research studies reviewed involved individuals, their carers/family or professionals working directly with the researchers to verify results for credibility.…”