Community and cluster centre residential services for adults with intellectual disability: long-term results from an Australian-matched sample

Changes in residential accommodation models for adults with intellectual disability (ID) over the last 20 years in Australia, the United Kingdom and the United States have involved relocation from institutions primarily into dispersed homes in the community. But an evolving alternative service style is the cluster centre. This paper reports on the relocation of a matched group of 30 pairs of adults with moderate and severe IDs and challenging behaviour who were relocated from an institution into either dispersed housing in the community or cluster centres but under the same residential service philosophy. Adaptive and maladaptive behaviour, choice-making and objective life quality were assessed prior to leaving the institution and then after 12 and 24 months of living in the new residential model. Adaptive behaviour, choice-making and life quality increased for both groups and there was no change in level of maladaptive behaviour compared with levels exhibited in the institution. However, there were some significant differences between the community and cluster centre group as the community group increased some adaptive skills, choice-making and objective life quality to a greater extent than the cluster centre group. Both cluster centre and dispersed community living offer lifestyle and skill development advantages compared with opportunities available in large residential institutions. Dispersed community houses, however, offer increased opportunities for choice-making, acquisition of adaptive behaviours and improved life quality for long-term institutionalized adults with IDs.

An evaluative case study of a psychological skills training program for athletes with intellectual disabilities

The purpose was to develop an evaluative case study of six 3-hr sessions, spaced over 3 months, of psychological skills training (PST) provided to athletes with an intellectual disability who were training for the Basketball Australia State Championships. Participants were 7 males and 7 females, aged 15.8 to 27.1 years, with a receptive language level of 7 to 13.7 years, 2 female coaches, 2 psychologists, and I registered psychologist supervisor. Sessions focused specifically on stress management, with primary attention given to cue words, breathing techniques, and positive thinking. Findings, based on interviews and participant observations, revealed that all participants believed that the PST was appropriate and worthwhile.

An analysis of clinical characteristics in genetically linked migraine-affected pedigrees

Migraine is a common complex disorder characterized by severe recurrent headache and usually accompanied by nausea and vomiting. Previous studies in our laboratory have utilized three large multigenerational Australian pedigrees affected with migraine to indicate that the disease is genetically heterogeneous, with linkage results implicating genomic susceptibility regions on both chromosomes 19p and Xq. The present study explores the possibility of a correlation between genetic and clinical heterogeneity in these affected pedigrees. Specifically, the clinical characteristics of migraine including subtype, age of onset, frequency, duration, and disease symptoms were compared between the migraine pedigrees, and gender differences were also assessed. Our exploratory analyses revealed no significant differences in any of the clinical characteristics tested between the chromosome 19-linked family and the two X-linked families. Also, we did not detect any differences in male vs. female clinical features for these pedigrees. In conclusion, migraine is considered to be a clinically and genetically heterogeneous disorder; however, our study provided no conclusive evidence that variation in genomic susceptibility region is related to heterogeneity at the clinical level in these migraine-affected pedigrees.

Authors' institutional affiliations in Australian intellectual and developmental disabilities journals: a comparison of two decades

The generation of new knowledge through research can contribute significantly to the improvement of services for individuals with intellectual and developmental disabilities. This study extends a previous study by Sigafoos, Roberts, and Couzens [Aust. N.Z.J. Dev. Disabil. 17 (1991) 331] by examining research productivity in intellectual and developmental disability in Australian journals for 1990-1999. Institutions that published research articles on intellectual and developmental disabilities in Australian journals in the 1990s were identified by noting the affiliations of authors. The most productive institutions were primarily universities in Australia and the United States of America. Publication trends in the decade of the 1990s are compared with trends of the previous decade (1980-1990). (C) 2003 Published by Elsevier Ltd.

Knowledge and understanding of choice diversity of residential care staff working with individuals with intellectual disabilities

The present study aimed to trial the effectiveness of 10 newly developed brief vignettes portraying typical interactions between staff and people with intellectual disabilities in residential care settings to assess the knowledge and understanding of staff about choice diversity, pre- and post-attendance at a staff training workshop. A total of 29 residential staff completed the Vignette Rating Scale and a knowledge questionnaire pre- and post-training. A t- test conducted on the vignettes revealed that respondents identified fewer choices in the post-test vignettes compared to the pre-test vignettes. Results showed no significant difference between the pre- and post-test data on the knowledge questionnaire. The questionnaire revealed a high level of knowledge about choice prior to and following training. The vignettes, however, proved effective in measuring changes in awareness of choice diversity among residential staff following participation in a staff training workshop.

Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria

Phenylalanine hydroxylase (PAH) is the enzyme that converts phenylalanine to tyrosine as a rate-limiting step in phenylalanine catabolism and protein and neurotransmitter biosynthesis. Over 300 mutations have been identified in the gene encoding PAH that result in a deficient enzyme activity and lead to the disorders hyperphenylalaninaemia and phenylketonuria. The determination of the crystal structure of PAH now allows the determination of the structural basis of mutations resulting in PAH deficiency. We present an analysis of the structural basis of 120 mutations with a 'classified' biochemical phenotype and/or available in vitro expression data. We find that the mutations can be grouped into five structural categories, based on the distinct expected structural and functional effects of the mutations in each category. Missense mutations and small amino acid deletions are found in three categories:'active site mutations', 'dimer interface mutations', and 'domain structure mutations'. Nonsense mutations and splicing mutations form the category of 'proteins with truncations and large deletions'. The final category, 'fusion proteins', is caused by frameshift mutations. We show that the structural information helps formulate some rules that will help predict the likely effects of unclassified and newly discovered mutations: proteins with truncations and large deletions, fusion proteins and active site mutations generally cause severe phenotypes; domain structure mutations and dimer interface mutations spread over a range of phenotypes, but domain structure mutations in the catalytic domain are more likely to be severe than domain structure mutations in the regulatory domain or dimer interface mutations.

Tumor necrosis factor-related apoptosis-inducing ligand-induced apoptosis of human melanoma is regulated by Smac/DIABLO release from mitochondria

In previous studies we have shown that the sensitivity of melanoma cell lines to tumor necrosis factor-related apoptosis-inducing ligand (TRAIL)induced apoptosis was determined largely by the level of expression of death receptor TRAIL receptor 2 on the cells. However, approximately one-third of melanoma cell lines were resistant to TRAIL, despite expression of high levels of TRAIL receptor 2. The present studies show that these cell lines had similar levels of TRAIL-induced activated caspase-3 as the TRAIL-sensitive lines, but the activated caspase-3 did not degrade substrates downstream of caspase-3 [inhibitor of caspase-activated DNase and poly(ADP-ribose) polymerase]. This appeared to be due to inhibition of caspase-3 by X-linked inhibitor of apoptosis (XIAP) because XIAP was bound to activated caspase-3, and transfection of XIAP into TRAIL-sensitive cell lines resulted in similar inhibition of TRAIL-induced apoptosis. Conversely, reduction of XIAP levels by overexpression of Smac/ DIABLO in the TRAIL-resistant melanoma cells was associated with the appearance of catalytic activity by caspase-3 and increased TRAIL-induced apoptosis. TRAIL was shown to cause release of Smac/DIABLO from mitochondria, but this release was greater in TRAIL-sensitive cell lines than in TRAIL-resistant cell lines and was associated with downregulation of XIAP levels. Furthermore, inhibition of Smac/DIABLO release by overexpression of Bcl-2 inhibited down-regulation of XIAP levels. These results suggest that Smac/DIABLO release from mitochondria and its binding to XIAP are an alternative pathway by which TRAIL induces apoptosis of melanoma, and this pathway is dependent on the release of activated caspase-3 from inhibition by XIAP and possibly other inhibitor of apoptosis family members.

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

Two families, originally diagnosed as having nonsyndromic X-linked mental retardation (NSXLMR), were reviewed when it was shown that they had a 24-bp duplication (428-45 1dup(24bp)) in the ARX gene [Stromme et al., 2002: Nat Genet 30:441-445]. This same duplication had also been found in three other families: one with X-linked infantile spasms and hypsarrhythmia (X-linked West syndrome, MIM 308350) and two with XLMR and dystonic movements of the hands (Partington syndrome, MIM 309510). On review, manifestations of both West and Partington syndromes were found in some individuals from both families. In addition, it was found that one individual had autism and two had autistic behavior, one of whom had epilepsy. The degree of mental retardation ranged from mild to severe. A GCG trinucleotide expansion (GCG)10+7 and a deletion of 1,517 by in the ARX gene have also been found in association with the West syndrome, and a missense mutation (1058C >T) in a family with a newly recognized form of myoclonic epilepsy, severe mental retardation, and spastic paraplegia [Scheffer et al., 2002: Neurology, in press]. Evidently all these disorders are expressions of mutations in the same gene. It remains to be seen what proportions of patients with infantile spasms, focal dystonia, autism, epilepsy, and nonsyndromic mental retardation are accounted for by mutations in the ARX gene. (C) 2002 Wiley-Liss, Inc.

The evidence for better health from health assessments: A large clustered randomised controlled trial

Aim: To test the efficacy of a comprehensive health assessment using the CHAP tool in adults with an intellectual disability (ID). Method: A cluster randomised control design was used. The intervention group received the CHAP, while the control group received usual care. This tool directed carers to gather a health history, which was reviewed by the person’s general practitioner (GP) who completed a medical examination and a healthcare plan. The tool acted as an advocacy tool, a ticket-of-entry to the GPs surgery and educated the GP and the caregiver about the deficits in the healthcare of adults with ID. The healthcare of the participants was followed for one-year after intervention by the collection of data from GP and service providers’ notes. Also interviews were performed with all those involved. Results: We obtained a representative sample of  adults with ID (RR%). We found the intervention group received a significant increase in many health promotion/disease prevention activities e.g. hearing screening was  times and a Pap smear was  times more likely to have occurred in the intervention groups.We also found a trend towards earlier detection of disease. Conclusions: The CHAP process improves the provision of health screening/promotion activities and should be implemented.

Are health assessments in the community acceptable to those involved? Yes, Yes and maybe

Aim: To test the acceptability of a comprehensive health assessment program (CHAP) in adults with an intellectual disability (ID). Method: We interviewed adults with ID, their general practitioners (GPs) and caregivers (healthcare triad), before and after the intervention period as part of a clustered randomised controlled trial to test the use of the CHAP tool in adults with ID. A content and thematic analysis of these interviews will be presented. Results: We found adults with ID were unable to recall the health assessment consultation or differentiate this consultation from the usual contact with their GP. GPs and residential staff where largely supportive of the process and considered it did improve the care they could provide to AWID. They also considered that the intervention helped other members of the healthcare triad. Conclusions: The CHAP was found to be acceptable to caregivers and GPs however further work is needed to ascertain the views of adults with ID.

Are a health advocacy diary and health assessment welcomed by those who use them?

Aim: To determine acceptability of a health advocacy intervention, the Ask Diary and the comprehensive health assessment program (CHAP). Method: We performed a two by two designed randomised controlled trial of the Ask Diary and the CHAP tool in  adults with intellectual disability. Results of interviews of self-advocates and caregiver advocates, both families and paid carers, will be presented. Results: The interviews found strong support for the Ask Diary and the CHAP tool among selfadvocates and family caregivers. There was clear indication that the Ask Diary improved advocacy, aided in the organisation of health matters and was easy to use. It was reported that the health assessment resulted in benefits for the person’s health and high acceptability by carers. There was less support for the interventions where the person was supported through government services. Conclusions: Self-advocates and family caregivers welcome and use a personalised health advocacy diary and also a health assessment. However paid carers used the diary less but were supportive of the health assessment.

Closure of the Challinor Centre II: An extended report on 95 individuals after 12 months of community living

As part of an institutional closure programme, 95 individuals with an intellectual disability were relocated to community-based group homes. Each individual was assessed 6 months prior to the relocation and then again after 1, 6, and 12 months of community living. Assessments involved ratings of adaptive and maladaptive behaviour, choice-making, and life circumstances. The group means comparing institution to community ratings showed improvements in adaptive functioning but no significant change in maladaptive behaviour. There were also improvements in life circumstances and increased opportunities for choice-making following relocation to the community. These outcomes suggest that relocation to the community was associated with a more active and normalised lifestyle than experienced in the institutional setting.