Development and characteristics of children with Usher and CHARGE syndrome

    20 Citationer (Scopus)

    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.
    OriginalsprogEngelsk
    TidsskriftInternational Journal of Pediatric Otorhinolaryngology
    Vol/bind76
    Udgave nummer9
    Sider (fra-til)1292-1296
    Antal sider5
    ISSN0165-5876
    DOI
    StatusUdgivet - sep. 2012

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