Survey of the Prevalence of Balance Problems in Turner Syndrome
Research type
Research Study
Full title
Survey of the Prevalence of Balance Problems in Turner Syndrome
IRAS ID
293102
Contact name
Haytham Kubba
Contact email
Sponsor organisation
NHS GGC
Duration of Study in the UK
0 years, 3 months, 30 days
Research summary
The purpose of this research is to investigate the proportion of girls with Turner Syndrome, aged 6-18 years, within the West of Scotland cohort reporting balance problems on questioning in questionnaire. A control group of unaffected girls within the same age bracket will be formed by attendees of the tonsillectomy clinic at the Royal Children's Hospital Glasgow. Turner Syndrome (TS) is genetic condition, affecting 1 in 2000 girls, caused by the total or partial absence of an X chromosome, in some or all cells. This X chromosome abnormality is believed to be caused by a random error event, affecting all cells when the abnormality is due to error in the division of either parents’ reproductive cells, or causing mosaic TS, when only a percentage of cells are affected when the error arises spontaneously during very early foetal development. TS can present with common phenotypic variations, such as short stature, low posterior hair line, neck webbing and a broadened chest. Additionally, endocrinopathies, such as glucose intolerance, cardiac anomalies, hearing impairment and chronic middle ear infections are prevalent in TS. Currently there is limited evidence that balance problems are associated with hearing issues. With poor balance, these girls may have resultant motor delays, as well as increased prevalence of falls and fractures. With this can come decreased confidence in physical activity and adversely affected self esteem and quality of life. This study will involve asking participants to complete a one off online questionnaire, containing the full question set from Movement Assessment Battery for Children 2 Checklist as well as the addition of questions specific to Turner Syndrome. Additionally it will be asked that all participants consent access to their medical records to view their x-rays for fracture history, genetic status of TS, hearing loss status and visual ability.
REC name
East Midlands - Derby Research Ethics Committee
REC reference
21/EM/0209
Date of REC Opinion
3 Aug 2022
REC opinion
Further Information Favourable Opinion