PubMed · 9919247
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M Radcliffe. Live through this.. https://pubmed.ncbi.nlm.nih.gov/9919247/
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Fragile X syndrome is the most common cause of inherited developmental disability. The purpose of the present study is to understand how both biological and environmental influences affect the development of adaptive behavior in children with fragile X. In-home assessments were conducted on 120 children (80 boys and 40 girls) with the fragile X full mutation and their unaffected siblings (58 boys and 62 girls). Hierarchical multiple regression analyses were utilized. Independent variables included biological or demographic variables specific to the child (age, gender, full-scale IQ, and FMRP percentage), as well as factors specific to his/her environment (household income, home environment, maternal psychopathology, and effectiveness of educational/therapeutic services). Results of these analyses showed that for both boys with fragile X and the control sibling group, adaptive behavior was predicted by IQ, age, gender, and home environment. For girls with fragile X, adaptive behavior was most strongly associated with IQ. Adaptive behavior was not significantly associated with FMRP in boys or girls with fragile X. By examining the relative influences of biological and environmental factors on adaptive behavior in children with fragile X, we begin to lay the foundation for the development of more specific treatment studies in children with this disorder.
BACKGROUND: Injuries are a major cause of mortality and morbidity in young people. Despite this, the long-term consequences for young survivors of severe injury are relatively unexplored. METHODS: Population based cohort study involving 5 year post injury structured interview of all cases of major trauma (Injury Severity Score > 15) identified retrospectively for 12 month period (1988 to 1989) within former Yorkshire Health Authority area of the United Kingdom. RESULTS: 125 individuals aged 11-24 years at time of injury were identified. Of these, 109 (87%) were interviewed. Only 20% (95% CI 14-29%) of those interviewed reported no disability. Mean Office of Population Census and Surveys (OPCS) disability score of the remainder was 7.5 (median 5.8, range 0.5 to 19.4). The most commonly encountered areas of disability were behaviour (54%, 95% CI 45-63%), intellectual functioning (39%, 95% CI 31-49%) and locomotion (29%, 95% CI 22-39%). Many respondents reported that their daily lives were adversely affected by their health problems for example, causing problems with work, 54% (95% CI 45-63%), or looking after the home, 28% (95% CI 21-38%). Higher OPCS scores were usually but not always associated with greater impact on daily activities. The burden of caring responsibilities fell largely on informal carers. 51% (95% CI 42-61%) of those interviewed would have liked additional help to cope with their injury and disability. CONCLUSION: The study has revealed significant disability amongst a cohort of young people 5 years post severe injury. Whilst many of these young people were coping well with the consequences of their injuries, others reported continuing problems with the activities of daily life. The factors underpinning the young people's differing experiences and social outcome should be explored.
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