Reported goal setting and benefits of person centred planning for people with intellectual disabilities.

Recent research suggests that person centred planning (PCP) can have a positive impact on the lives of people with intellectual disabilities. This article presents data from open-ended comments collected during research on the impact of PCP on the life experiences of 65 people with intellectual disabilities living in England. These comments addressed the goals set prior to and during PCP, and the main benefits of PCP for participants. The results suggest that PCP led to increased goal setting in a range of goal categories. This was reflected in the most common main benefit of PCP of ;increased activities and opportunities' reported for 57 percent of participants. For 48 percent of participants, a main benefit of PCP was that they felt better in themselves, in terms of happiness or self-esteem. This must surely be the ultimate aim of those seeking to improve the quality of life of people with intellectual disabilities.

The biochemical and clinical penetrance of individuals diagnosed with genetic haemochromatosis by predictive genetic testing.

BACKGROUND: HFE-related genetic haemochromatosis (GH) is the commonest inherited genetic disorder in Caucasian populations with approximately one in 180 of individuals in the west of Scotland homozygous for the common C282Y mutation. The clinical diagnosis of GH, however, remains relatively uncommon - suggesting either under diagnosis or low clinical penetrance. AIM: We aimed to assess the biochemical and clinical penetrance of GH in first-degree relatives of patients with known GH, who subsequently themselves screened positive for the common GH mutations. METHODS: Individuals were identified from two large teaching hospitals in North Glasgow from July 1997 to July 2005 diagnosed with GH after predictive genetic testing after a relative was found to have GH. Details of patient history, biochemistry and known comorbidity at diagnosis and results of related further investigations were collected. RESULTS: Sixty-three individuals were identified, 31 (49%) of whom were males. Fifty-five individuals (87%) were C282Y homozygous and the remaining eight were compound heterozygotes for C282Y and H63D. All 31 male patients were found to have evidence of iron overload as opposed to 63% of females. Elevated liver enzyme levels were encountered in 15 patients (24%). All except one had evidence of iron overload. Four individuals underwent a liver biopsy, two of whom had hepatic fibrosis. Four patients were found to be diabetic. A full clinical history was obtained from 54 of 63 individuals, 38 (70%) of whom were entirely asymptomatic. Thirteen individuals complained of joint pains and a further nine complained of fatigue. CONCLUSION: This study suggests that although biochemical penetrance of GH is high, the clinical penetrance is low.

Longitudinal analysis of the impact and cost of person-centered planning for people with intellectual disabilities in England.

Person-centered planning is central to United Kingdom policies regarding the support of people with intellectual disabilities. However, little evidence exists on the impact or cost of introducing person-centered planning. We examined the efficacy, effectiveness, and costs of introducing person-centered planning for 93 people with intellectual disabilities over 2 years across four localities in England. A person-centered plan was successfully developed for 65 people. Little change was apparent prior to introducing person-centered planning. After its introduction, modest positive changes were found in the areas of social networks; contact with family; contact with friends; community-based activities; scheduled day activities; and choice. The direct training and support cost of introducing person-centered planning was $1,202 per participant; indirect costs were negligible.