Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development

Abadie, Véronique; Wiener-Vacher, Sylvette; Morisseau-Durand, Marie-Paule; Porée, Claude; Amiel, Jeanne; Amanou, Laurent; Peigné, Catherine; Lyonnet, Stanislas; Manac'h, Y

doi:10.1007/s004319900409

Cited by 79 publications

(82 citation statements)

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“…However, to date, a correlation between motor dysfunction in CHARGE patients and cerebellar pathology has not been established. While cerebellar hypoplasia in CHARGE syndrome could influence gait or motor learning, there is a high prevalence (94% of CHARGE patients) of semicircular canal anomalies leading to vestibular dysfunction (Abadie et al, 2000). The vestibular apparatus is important in psychomotor development and therefore, it remains difficult to discern the precise contribution of cerebellar hypoplasia to the difficulties in postural and axial motor control in these patients.…”

Section: Discussionmentioning

confidence: 99%

“…The vestibular apparatus is important in psychomotor development and therefore, it remains difficult to discern the precise contribution of cerebellar hypoplasia to the difficulties in postural and axial motor control in these patients. Previous studies imply that vestibular dysfunction alone is not responsible for gait abnormalities in patients and therefore further investigation of cerebellar contribution is necessary (Abadie et al, 2000; Wiener‐Vacher, Amanou, Denise, Narcy, & Manach, 1999). …”

Section: Discussionmentioning

confidence: 99%

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Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome

Whittaker

Kasah

Donovan

et al. 2017

American J of Med Genetics Pt C

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Mutations in the gene encoding the ATP dependent chromatin‐remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital‐urinary anomalies, and Ear defects) syndrome. Neurodevelopmental defects and a range of neurological signs have been identified in individuals with CHARGE syndrome, including developmental delay, lack of coordination, intellectual disability, and autistic traits. We previously identified cerebellar vermis hypoplasia and abnormal cerebellar foliation in individuals with CHARGE syndrome. Here, we report mild cerebellar hypoplasia and distinct cerebellar foliation anomalies in a Chd7 haploinsufficient mouse model. We describe specific alterations in the precise spatio‐temporal sequence of fissure formation during perinatal cerebellar development responsible for these foliation anomalies. The altered cerebellar foliation pattern in Chd7 haploinsufficient mice show some similarities to those reported in mice with altered Engrailed, Fgf8 or Zic1 gene expression and we propose that mutations or polymorphisms in these genes may modify the cerebellar phenotype in CHARGE syndrome. Our findings in a mouse model of CHARGE syndrome indicate that a careful analysis of cerebellar foliation may be warranted in patients with CHARGE syndrome, particularly in patients with cerebellar hypoplasia and developmental delay.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome

Whittaker

Kasah

Donovan

et al. 2017

American J of Med Genetics Pt C

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show abstract

“…The prevalence of inner ear anomalies could be higher than 90%. 26,30 These consist of a specific form of labyrinthine dysplasia that includes complete absence of the pars superior (utricle and semicircular canals) with or without Mondini dysplasia of the pars inferior (cochlea and saccule). Although Mondini dysplasia is relatively nonspecific, and can be observed in many syndromal deafness, aplasia of the semicircular canals and hypoplastic uncus are probably the most specific anomaly of CHARGE syndrome.…”

Section: Auditory and Vestibular Anomaliesmentioning

confidence: 99%

CHARGE syndrome: an update

2007

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In association with CHARGE syndrome: an update CHARGE syndrome is a rare, usually sporadic autosomal dominant disorder due in 2/3 of cases to mutations within the CHD7 gene. The clinical definition has evolved with time. The 3C triad (ColobomaChoanal atresia-abnormal semicircular Canals), arhinencephaly and rhombencephalic dysfunctions are now considered the most important and constant clues to the diagnosis. We will discuss here recent aspects of the phenotypic delineation of CHARGE syndrome and highlight the role of CHD7 in its pathogeny. We review available data on its molecular pathology as well as cytogenetic and molecular evidences for genetic heterogeneity within CHARGE syndrome.

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“…This seems to be a consequence of vestibular troubles that are a frequent occurrence in CHARGE syndrome as demonstrated by Abadie et al [2000].…”

mentioning

confidence: 95%

CHARGE syndrome: Developmental and behavioral data

Souriau¹,

Gimenes²,

Blouin³

et al. 2005

American J of Med Genetics Pt A

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Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development

Abstract: Vestibular investigations are valuable for diagnosis, developmental assessment, and adaptation of specific rehabilitation programmes in CHARGE syndrome patients.

Cited by 79 publications

References 17 publications

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome

CHARGE syndrome: an update

CHARGE syndrome: Developmental and behavioral data

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