Functional status, medical impairments, and rehabilitation resources in 84 females with Rett syndrome: a snapshot across the world from the parental perspective.

PURPOSE: Rett syndrome is a neurological disorder almost exclusively affecting females. Information on its genetic basis has recently become available. However there is little information on the burden and impact of this disorder on the family despite the apparent variability in phenotype. The purpose of this study was to obtain information on the burden and impact of Rett syndrome by examining the functional abilities, medical needs and use of medical, therapy and accommodation services in the sample. METHOD: We used the internet to access an opportunistic sample of parents of 86 females with Rett syndrome. Data on functional status (using the Wee FIM in questionnaire format) morbidity patterns and use of services were collected. RESULTS: The response indicated that the instrument used would be appropriate for tracking these parameters in a population-based cohort. Subjects with Rett syndrome in this pilot sample were completely or partially dependent in all functional domains and significantly more so than children with Down syndrome. CONCLUSION: The complexity of dependency with need for quality medical surveillance throughout adolescence and adulthood requires accessible centres of excellence linking families and skilled professionals. We plan to use this instrument to obtain a more comprehensive profile of the health, functioning and service use of a total population of children with Rett syndrome.

Functional limitations and key indicators of well-being in children with disability.

OBJECTIVES: To compare measures of well-being in children with and without different types and severity of limitations. DESIGN: Nationally representative data for American children aged 5 to 17 years were drawn from the 1994 and 1995 National Health Interview Surveys on Disability (NHIS-D) (N = 41,300) and the Year 2000 Health Supplement to the 1994 NHIS-D (N = 9530). Family resources, safety, health status, and health access were measures of environment. The presence and severity of limitations were measured in the domains of mobility, self-care, communication, and learning. RESULTS: Children with functional limitations were more likely to live in families with limited resources and have greater exposure to secondhand smoke, less access to health care, and lower health status. Children with a limitation were not less likely to have a regular source of medical care, but they more often were delayed or prevented from getting necessary health care due to cost or insurance. CONCLUSIONS: Standard measures of child well-being were appropriate for children with functional limitations and showed their unfavorable situations. Children with functional limitations more often have unfavorable family resources, less healthy home environments, poorer health status, and less health service access than other children, making them more susceptible to developmental difficulties beyond those difficulties associated with the challenges of their specific functional limitations.

Functional assessment and care of children with neurodevelopmental disabilities.

OBJECTIVES: To determine the relationship between pediatric assessment scores and ratings by parents and teachers regarding the amount of assistance required to complete basic activities of daily living; and to examine the relationship among scores for three commonly used pediatric assessments. DESIGN: Prospective correlational study. 205 children with developmental disabilities. The children ranged in age from 11 to 87 mo and included 72 females and 133 males of diverse socioeconomic and ethnic backgrounds. The children were evaluated by using the Battelle Developmental Inventory Screening Test, Vineland Adaptive Behavior Scales, Functional Independence Measure for Children (WeeFIM instrument), and the Amount of Assistance Questionnaire. RESULTS: The test-retest reliability coefficients for items on the Amount of Assistance Questionnaire were found to range from 0.82 to 0.97. Correlations among subscale scores and amount of assistance ratings were highest for the WeeFIM instrument and Battelle Developmental Inventory Screening Test. The highest correlation was between WeeFIM total rating and total amount of assistance rating (r = 0.91). CONCLUSION: Total WeeFIM instrument ratings and severity of disability were the best predictors of amount of assistance ratings provided by parents and teachers.

Interrater agreement and stability of the Functional Independence Measure for Children (WeeFIM): use in children with developmental disabilities.

OBJECTIVE: Examination of the interrater agreement and stability of ratings obtained using the Functional Independence Measure for Children (WeeFIM) in a sample of children with developmental disabilities. DESIGN: A relational design was used in which two sets of WeeFIM scores were collected under four conditions: same rater-short interval; same rater-long interval; different rater-short interval; and different rater-long interval. SETTING: WeeFIM scores were collected in outpatient developmental rehabilitation centers, school programs, and the children's homes. PARTICIPANTS: Data were collected for 205 children ranging in age from 11 to 87 months. All children had a medical diagnosis of disability and were receiving habilitative-educational intervention or follow-along services including neurodevelopmental surveillance. INSTRUMENT: The WeeFIM instrument examines basic daily living and functional skills in children from birth to 7 years of age. The WeeFIM is modeled after the Functional Independence Measure (FIM) for adults and includes 18 items in the following subscales: self-care, sphincter control, transfers, locomotion, communication, and social cognition. RESULTS: Kappa values for items ranged from .44 to .82. Intraclass correlation coefficients (ICC) for the six subscales ranged from .73 to .98. Total WeeFIM ICC values were greater than .95 for all analyses. CONCLUSIONS: The WeeFIM ratings for the 205 children with developmental disabilities participating in this investigation were consistent across raters and time.

Improved disability population estimates of functional limitation among American children aged 5-17.

OBJECTIVES: This paper (a) creates and validates measures for population survey data to assess functional limitation in mobility, self-care, communication, and learning ability for school-age American children; (b) calculates rates of functional limitation using these measures, and provides population estimates of the number of children with limitations; and (c) examines these limitations as a function of socioeconomic factors. METHOD: The study is based on data for children aged 5-17 collected in the 1994 National Health Interview Survey on Disability. Ordinal values are assigned to survey items in the four functional areas and analyzed to produce scales of high reliability. These measures are used to identify within a 95% confidence interval the number of children with these limitations. Ordered logistic regression models measure the effects of functional limitations on disability and societal limitation. Socioeconomic differences are measured with an ordered logistic regression model that predicts severity and comorbidity. RESULTS: Limitations in learning ability (10.6%) and communication (5.5%) are the most common, with mobility (1.3%) and self-care (0.9%) occurring less often. Six percent of children have one serious functional limitation and 2.0% have two or more serious functional limitations. This corresponds to 4.0 million school-age American children with serious functional limitations. Functional limitation is strongly linked to socioeconomic disadvantage and to residence in single-mother households. CONCLUSIONS: Future population research should use multiple-item scales for four distinct areas of functional limitation, and a summary that takes into account both severity and comorbidity. The improved estimates of the number of school-age children with functional limitation in this paper may help contribute to a more informed scientific and policy discussion of functional limitation and disability among American school-age children. Future research on the disability process among children must consider the role of socioeconomic disadvantage and family structure.

Long-term morbidity and management strategies of tracheal aspiration in adults with severe developmental disabilities.

The feeding skills and health of 73 adults with severe developmental disabilities who aspirated were examined between 1986 and 1990. Sixty individuals had profound mental retardation (82%) and 48, cerebral palsy (66%). Modified barium swallow studies, esophagrams and gastric follow-throughs were completed on 67 clients (92%). Twenty adults aspirated barium. Aspiration was specific for barium texture in 8 (40%). Mobility, level of mental retardation, or feeding skills did not discriminate those who aspirated. Mealtime respiratory distress (65%) or chronic lung disease (55%), however, were significantly associated with aspiration. More studies are needed on the early identification and management of aspiration.