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Biomedical subjects

I Carpenter

Publications and source records attributed to I Carpenter.

9 recordsLinked to original sources
PubMed1999

Assessment approaches for older people receiving social care: content and coverage.

BACKGROUND: Assessment was identified as one of the 'cornerstones' of community care. This study presents findings from the first nationally representative analysis of assessment documents used by social services agencies in the UK. METHOD: In this paper analysis is made of 50 assessment documents used for the 'comprehensive' assessment of older people. The documents were examined in the extent to which they covered 33 assessment domains, grouped into four areas: functional domains; cognitive, mood and psychosocial domains; social environment domains; and clinico-medical domains. The documents were analysed on three dimensions: whether the domains were covered at all; whether the domain was covered in sufficient detail; and whether it would elicit a structured response. RESULTS: Activities of daily living were covered to some extent on the majority of documents, as were the instrumental activities of daily living. Very few documents were designed to elicit information on the potential for rehabilitation. Whilst the majority of forms were designed to collect some information on cognitive patterns, mood state and social activity, very few were designed to collect this in any detail. Although functional activities of daily living were covered in greater detail than the other domains overall, there was enormous variability between the documents, thus hampering their ability to generate any standardized information.

Activities of Daily Living↗
PubMed1994

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression.

Fragile X (fra(X)) males with a standardized IQ score of 70 or higher represent a high functioning (HF) or nonretarded fra(X) male group. This group, which does not include nonpenetrant males, has received little research attention to date. Of 221 fra(X) males who had been evaluated through The Children's Hospital in Denver since 1981 and had completed cognitive or developmental testing, 29 (13%) were high functioning by the above definition. We found that HF males on the whole had a lower cytogenetic score and were younger than retarded fra(X) males, but there was no difference between these two groups in the number of typical fra(X) physical manifestations present. FMR-1 DNA testing was performed on 134 fra(X) males and methylation status was determined for 51 of these. A greater percentage of HF males had a mosaic pattern or an incompletely methylated full mutation than did retarded males. A unique DNA pattern, an unmethylated fully expanded mutation, was discovered in 3 of the highest functioning fra(X) males. Protein studies performed on 2 of these males demonstrated the presence of FMR-1 protein, albeit at lower levels than normal. FMR-1 protein was not present in retarded fra(X) males. Significant FMR-1 protein expression may be responsible for higher cognitive functioning in the 2 males with unmethylated fully expanded mutations compared to retarded fra(X) males.

Adolescent↗
PubMed1994

Molecular predictors of cognitive involvement in female carriers of fragile X syndrome.

OBJECTIVE: Fragile X syndrome is caused by a mutation involving expansion of a CGG trinucleotide repeat segment in the fragile X mental retardation-1 (FMR1) gene on the long arm of the X chromosome. This study was undertaken to determine the relative impact of three molecular characteristics of the FMR1 mutation--number of CGG repeats, methylation status, and X inactivation ratio--on the cognitive involvement of female carriers of fragile X syndrome. DESIGN: Retrospective study with new DNA analysis of known female carriers of fragile X syndrome. SETTING: Molecular studies were conducted in a university-based DNA diagnostic laboratory. Patients were originally ascertained through a regional fragile X clinic in a university-affiliated pediatric hospital. PATIENTS: Forty-eight female carriers of fragile X syndrome were studied, including 22 with a premutation (a small expansion to approximately 50 to 200 CGG repeats), 23 with a full mutation (a full expansion to > 200 CGG repeats), and three with both types of mutations (mosaics). RESULTS: Median IQ score was significantly lower for females with a full mutation than for females with a premutation. No significant relationship was found between IQ score and number of CGG repeats or percentage methylation of the mutant allele within each mutation category. In addition, no significant relationship was found between IQ score and the proportion of normal FMR1 alleles on the active X chromosome in the carrier female group as a whole or in either mutation subgroup. Comparisons of leukocytes and saliva-borne epithelial cells in certain full-mutation carriers revealed striking differences in FMR1 mutation sizes. CONCLUSIONS: Mutation category remains the most important predictor of affectedness in female carriers of fragile X syndrome. Our data do not support use of the proportion of normal FMR1 alleles on the active X chromosome as a predictor of cognitive involvement in female carriers with full mutations. Individual tissue-specific differences exist in the heterogeneous sizes of full mutations and in the presence of premutation/full-mutation mosaicism.

Adolescent↗
PubMedDate not supplied

Benefits of standardised assessment.

This article looks at the use of a standardised assessment tool for older people for continuing care. The authors argue that the use of a national assessment instrument could improve health care. The assessment tool is described and its used in the UK discussed.

Geriatric Assessment↗