Talk:Genetics - Chromosome 22

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Cite this page: Hill, M.A. (2019, October 23) Embryology Genetics - Chromosome 22. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Genetics_-_Chromosome_22

2019

Vestibular dysfunction is a manifestation of 22q11.2 deletion syndrome

Am J Med Genet A. 2019 Mar;179(3):448-454. doi: 10.1002/ajmg.a.7. Epub 2019 Jan 11.

Willaert A1,2, Van Eynde C1, Verhaert N1,2, Desloovere C1, Vander Poorten V1, Devriendt K3, Swillen A3, Hens G1.

The 22q11.2 deletion syndrome (22q11.2DS) is the second most common cause of developmental delay after Down syndrome. Impaired cognitive development is highly prevalent, but also motor abnormalities such as hypotonia and delays in achieving motor milestones are described. Instability is frequently detected in children, adolescents, and adults and is mostly attributed to their limited motor performance. Until now, vestibular function has not been investigated in these patients, despite the growing evidence that they often have inner ear malformations. The aim of this prospective study was to identify the presence and character of vestibular dysfunction in 22q11.2DS. We investigated 23 subjects with proven 22q11.2DS, older than the age of 12. We performed caloric testing and pendular rotation chair tests with videonystagmography, cervical vestibular-evoked myogenic potential (c-VEMP)-testing, and posturography. Additional otoscopy and audiometry were performed on all subjects. We found a unilateral caloric hypofunction in 55% of patients, a certain absent c-VEMP response in 15% of ears, an inconclusive c-VEMP response in 33% of ears, and abnormal posturography in 68% of patients, of whom 42% displayed a typical vestibular pattern. Remarkably, 90% revealed uni- or bilateral weak caloric responses, independent of caloric symmetry. Vestibular dysfunction is frequent in subjects with 22q11.2DS. This knowledge should be taken into account when assessing motor performance in these patients. Additional larger studies are needed to determine whether this dysfunction implicates a therapeutic potential. © 2019 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc.

KEYWORDS: 22q11 deletion syndrome; balance disorder; inner ear; labyrinth; motor development; velocardiofacial syndrome PMID: 30635960