Literature DB >> 22721527

Development and characteristics of children with Usher syndrome and CHARGE syndrome.

Jesper Dammeyer1.   

Abstract

OBJECTIVE: Individuals with Usher syndrome or CHARGE syndrome are faced with a number of difficulties concerning hearing, vision, balance, and language development. The aim of the study is to describe the developmental characteristics of children with Usher syndrome and CHARGE syndrome, respectively.
METHOD: Data about the developmental characteristics of 26 children with Usher syndrome and 17 children with CHARGE syndrome was obtained. Associations between deafblindness (dual sensory loss), motor development (age of walking), language abilities, and intellectual outcome of these children were explored for each group independently.
RESULTS: Both groups of children face a number of difficulties associated with vision, hearing, language, balance and intellectual outcome. Intellectual disability and/or language delay was found among 42% of the children with Usher syndrome and among 82% of the children with CHARGE syndrome. Intellectual disability was associated with language delay and age of walking for both groups.
CONCLUSIONS: Even though Usher and CHARGE are two different genetic syndromes, both groups are challenged with a number of similar developmental delays. Clinicians need to be aware of several developmental issues in order to offer adequate support to children with Usher or CHARGE syndrome.
Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

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Year:  2012        PMID: 22721527     DOI: 10.1016/j.ijporl.2012.05.021

Source DB:  PubMed          Journal:  Int J Pediatr Otorhinolaryngol        ISSN: 0165-5876            Impact factor:   1.675


  7 in total

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Authors:  Atul Jaiswal; Heather Aldersey; Walter Wittich; Mansha Mirza; Marcia Finlayson
Journal:  PLoS One       Date:  2018-09-13       Impact factor: 3.240

2.  Affordances for Motor Development in the Home Environment for Young Children with and without CHARGE Syndrome.

Authors:  Pamela Beach; Melanie Perreault; Lauren Lieberman
Journal:  Int J Environ Res Public Health       Date:  2021-11-13       Impact factor: 3.390

Review 3.  Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis.

Authors:  Andrea T Thomas; Jane Waite; Caitlin A Williams; Jeremy Kirk; Chris Oliver; Caroline Richards
Journal:  J Neurodev Disord       Date:  2022-08-31       Impact factor: 4.074

Review 4.  Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.

Authors:  M Stemerdink; B García-Bohórquez; R Schellens; G Garcia-Garcia; E Van Wijk; J M Millan
Journal:  Hum Genet       Date:  2021-07-30       Impact factor: 4.132

5.  Theory-of-mind in individuals with Alström syndrome is related to executive functions, and verbal ability.

Authors:  Hans-Erik Frölander; Claes Möller; Mary Rudner; Sushmit Mishra; Jan D Marshall; Heather Piacentini; Björn Lyxell
Journal:  Front Psychol       Date:  2015-09-23

Review 6.  Language and communication development in preschool children with visual impairment: A systematic review.

Authors:  Renata Mosca; Alta Kritzinger; Jeannie van der Linde
Journal:  S Afr J Commun Disord       Date:  2015

7.  Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.

Authors:  Talah T Wafa; Rabia Faridi; Kelly A King; Christopher Zalewski; Rizwan Yousaf; Julie M Schultz; Robert J Morell; Julie Muskett; Amy Turriff; Ekaterini Tsilou; Andrew J Griffith; Thomas B Friedman; Wadih M Zein; Carmen C Brewer
Journal:  Clin Genet       Date:  2020-11-03       Impact factor: 4.438

  7 in total

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