Mowat Wilson syndrome and Hirschsprung disease: a retrospective study on functional outcomes

Dagorno, Claire; Pio, Luca; Capri, Yline; Ali, Liza; Giurgea, Irina; Qoshe, Livia; Morcrette, Guillaume; Julien-Marsollier, Florence; Sommet, Julie; Chomton, Maryline; Berrebi, Dominique; Bonnard, Arnaud

doi:10.1007/s00383-020-04751-8

Cited by 4 publications

(3 citation statements)

References 16 publications

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“…After the eligibility process, six articles remained [6,[25][26][27][28][29]. Table 2 presents an overview of each article describing the authors, date of publication, country, participants, study design, intervention and reported benefits and effectiveness, including the evidence level and quality appraisal of the study.…”

Section: Resultsmentioning

confidence: 99%

“…A data extraction form was adapted from Johnels, interventions against Hirschsprung's disease [27,29]. One of these [27] was a retrospective observational cohort study of pull-through surgery in ten patients (aged 2-42 months, (Mdn = 11) which reported mixed results at follow-ups after 1-17.9 years. Half of the participants had reached good functional outcomes even though they experienced minor post-operative complications.…”

Section: Data Charting Extractionmentioning

confidence: 99%

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Interventions in Mowat Wilson Syndrome: A Scoping Review

Dolik-Michno,

Johnels,

Starbrink

et al. 2023

Int J Rare Dis Disord

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Mowat-Wilson syndrome (MWS) is a rare autosomal dominant condition caused by a heterozygous mutation or deletion of the ZEB2 gene. The syndrome occurs in both sexes but is potentially more frequently diagnosed in males. The number of new cases is estimated to be 1 in 50,000-70,000 born children. MWS is characterised by a distinctive facial appearance in association with intellectual disability (ID) and a range of other features including epilepsy, and Hirschsprung disease, microcephaly, agenesis of the corpus callosum and congenital heart defects. Epilepsy is considered a main manifestation of the syndrome and affects approximately 80% of individuals with MWS. Developmental milestones are delayed, and speech is limited to a few words. Behavioural and emotional difficulties have also been reported. This scoping review aimed to identify the existing literature on interventions targeting individuals with MWS and identify gaps in order to guide future research.

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Section: Resultsmentioning

confidence: 99%

Section: Data Charting Extractionmentioning

confidence: 99%

Interventions in Mowat Wilson Syndrome: A Scoping Review

Dolik-Michno,

Johnels,

Starbrink

et al. 2023

Int J Rare Dis Disord

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“…Recently Dagorno and colleagues described the functional outcome of 10 individuals with MWS associated to Hirschsprung Disease. In this group of patients, a high rate of immediate surgical complications has been noted, but some patients may achieve a bowel function comparable with non-syndromic HD patients, suggesting the importance of surgical intervention in this population [ 74 ].…”

Section: Neurological Involvement Of Mwsmentioning

confidence: 99%

Neurological Phenotype of Mowat-Wilson Syndrome

Cordelli

Pisa

Fetta

et al. 2021

Genes

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Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to ZEB2 gene defects (heterozygous mutation or deletion). The ZEB2 gene is a widely expressed regulatory gene, extremely important for the proper prenatal development. MWS is characterized by a specific facial gestalt and multiple musculoskeletal, cardiac, gastrointestinal, and urogenital anomalies. The nervous system involvement is extensive and constitutes one of the main features in MWS, heavily affecting prognosis and life quality of affected individuals. This review aims to comprehensively organize and discuss the neurological and neurodevelopmental phenotype of MWS. First, we will describe the role of ZEB2 in the formation and development of the nervous system by reviewing the preclinical studies in this regard. ZEB2 regulates the neural crest cell differentiation and migration, as well as in the modulation of GABAergic transmission. This leads to different degrees of structural and functional impairment that have been explored and deepened by various authors over the years. Subsequently, the different neurological aspects of MWS (head and brain malformations, epilepsy, sleep disorders, and enteric and peripheral nervous system involvement, as well as developmental, cognitive, and behavioral features) will be faced one at a time and extensively examined from both a clinical and etiopathogenetic point of view, linking them to the ZEB2 related pathways.

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