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.

Beyond sex and cooking: Health education for individuals with intellectual disability

Issues of health education programming for people with intellectual disability are discussed. As environments in which such individuals live become more inclusive, and they are encouraged to make their own choices, the issue of whether current health education is sufficient to enable them to make healthy life choices is considered. More attention should be focused on programs in schools and the community to fulfill this need. Three aspects of health education programming are considered: physical activity, general health knowledge, and social supports for health. Continuity of information is viewed as important in policy development as well as in interprofessional coordination and cooperation to assure that these individuals are not further handicapped by poor health.

Deletion of 8p: a report of a child with normal intelligence

The case is presented of a female infant with a distal deletion of 8p (8p23.1 --> pter) whose development was monitored over a 5-year period from 12 months of age. Although previous literature has suggested that 8p deletion is associated with mild to moderate intellectual disability, the child reported here has normal intelligence. Despite initial delays in gross motor and language skills, cognitive development (assessed with the Bayley Scales of Infant Development) and intellectual ability (measured on the Stanford-Binet Intelligence Scale) were within average range. It is argued that the small number of previous case reports may have created a misleading impression of intellectual development in individuals with distal deletions of 8p.

Audit and comprehensive health assessment programme in the primary healthcare of adults with intellectual disability: a pilot study

International research has demonstrated significant shortcomings in the health of adults with intellectual disability (ID). Because general practitioners (GPs) are the main providers of primary healthcare for this population, strategies to improve general practice care are an important aspect of rectifying these shortcomings. The present pilot study aimed to determine the effect of various interventions on health maintenance activities and to assess their acceptability to GPs, with a view to informing larger scale studies. The GPs were recruited through an earlier questionnaire-based postal survey. The GPs identified all their adult patients with ID, then obtained consent for participation from three patients randomly selected by the investigators. The GPs completed two self-evaluation forms and case note audits 12 months apart, read a synopsis of the relevant literature provided by the researchers, and completed a comprehensive health assessment (CHA) of their three patients. Forty-five GPs agreed to participate in the CHA programme (CHAP), and 15 completed the project. Thirty-eight patients completed the project. The number of patient-GP dyads who completed the project was too small to demonstrate statistically significant changes in health issues over time. The GPs found that the synopsis of the literature was the best intervention for increasing knowledge and was also the most practical to use in general practice. The CHAP was the intervention that prompted the most action from the GP which would not have been undertaken otherwise. The CHAP appeared to provide a superior review process compared to the other interventions used in the present study. The numbers of health maintenance activities found to be overdue and the number of health issues detected as a result of the process were considerable. The CHAP served as a communication tool and an educative instrument, providing a basis for future studies and strategies to improve the general practice care of adults with ID.

Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copperATPase

Wilson disease is an autosomal recessive copper transport disorder resulting from defective biliary excretion of copper and subsequent hepatic copper accumulation and liver failure if not treated. The disease is caused by mutations in the ATP7B (WND) gene, which is expressed predominantly in the liver and encodes a copper-transporting P-type ATPase that is structurally and functionally similar to the Menkes protein (MNK), which is defective in the X-linked copper transport disorder Menkes disease. The toxic milk (tx) mouse has a clinical phenotype similar to Wilson disease patients and, recently, the tx mutation within the murine WND homologue (Wnd) of this mouse was identified, establishing it as an animal model for Wilson disease. In this study, cDNA constructs encoding the wild-type (Wnd-wt) and mutant (Wnd-tx) Wilson proteins (Wnd) were generated and expressed in Chinese hamster ovary (CHO) cells. The fx mutation disrupted the copper-induced relocalization of Wnd in CHO cells and abrogated Wnd-mediated copper resistance of transfected CHO cells. In addition, co-localization experiments demonstrated that while Wnd and MNK are located in the trans-Golgi network in basal copper conditions, with elevated copper, these proteins are sorted to different destinations within the same cell, Ultrastructural studies showed that with elevated copper levels, Wnd accumulated in large multivesicular structures resembling late endosomes that may represent a novel compartment for copper transport. The data presented provide further support for a relationship between copper transport activity and the copper-induced relocalization response of mammalian copper ATPases, and an explanation at a molecular level for the observed phenotype of fx mice.

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.

Applications of motion study in developmental disabilities: A review

Motion study is an engineering technology that analyzes human body motions. During the past decade (1990-1999) a series of studies investigated the role of motion study in developmental disabilities. This article reviews the literature on the applications of motion study in the field. A historical and conceptual review of motion study leading to the current status of studies is presented followed by a review of the research literature. Two main eras of research focus were identified. The first era (1990-1995) of studies established the superior effectiveness and efficiency of tasks designed with motion study or motion study-related principles over traditional site-based task designs. The second era (1995-1999) of studies examined the interaction between motion study-based task designs and other variables such as choice, preference, and functionally equivalent and competing task designs and communicative alternatives. Our review found that applying motion study principles as an antecedent guide and practice to eliminating or reducing ineffective motions and simplifying effective motions resulted in positive task outcomes with most of the participants.

Neonatal ethanol exposure reduces AMPA but not NMDA receptor levels in the rat neocortex

Fetal alcohol syndrome (FAS) is the leading cause of mental retardation in western society. We investigated possible changes in glutamate receptor levels in neonatal animals following ethanol exposure using radioligand binding and western blot analysis. We used a vapor chamber to administer ethanol to neonatal Wistar rats 3 h a day from postnatal day (PND) 4-9. A separation control group was separated from their mothers for the same time and duration as the vapor treatment, while a normal control group was left to develop normally. Daily ethanol administrations resulted in decreased brain weight and body weight, as well as microencephaly (decreased brain:body weight ratio). Neither the affinity nor maximum binding of [H-3]MK-801 (dizoclipine maleate) in the cortex of PND10 rats differed between treatment groups. Western blot analysis also failed to reveal any changes in NMDAR1, NMDAR2A, or NMDAR2B receptor levels. In contrast, the AMPA receptor subunit GluR1 was greatly reduced in vapor-treated pups compared with control pups, as revealed by western blot analysis. A similar reduction was found in westerns with an antibody recognizing the GluR2 and 4 subunits. These results indicate that ethanol reduces AMPA rather than NMDA receptors in the developing neocortex, possibly by blocking NMDA receptors during development. (C) 2002 Elsevier Science B.V. All rights reserved.

Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature

The amelogenesis imperfectas (Al) area geneticatly heterogeneous group of diseases that result in defective development of tooth enamel. Although X-linked, autosomal. dominant and autosomal. recessive forms of Al have been clinically characterized, only two genes (AMELX and ENAM) have been associated with Al. To date, three enamelin (ENAM) mutations have been identified. These mutations cause phenotypically diverse forms of autosomal. dominant Al. Detailed phenotype-genotype correlations have not been performed for autosomal. dominant Al due to ENAM mutations. We identified a previously unreported kindred segregating for the ENAM mutation, g.8344delG. Light and electron microscopy analyses of unerupted permanent teeth show the enamel is markedly reduced in thickness, Lacks a prismatic structure and has a laminated appearance. Taken together these histological features support the enamelin protein as being critical for the development of a normal. enamel. thickness and that it Likely has a role in regulating c-axis crystallite growth. Because there is growing molecular and phenotypic diversity in the enamelin defects, it is critical to have a nomenclature and numbering system for characterizing these conditions. We present a standardized nomenclature for ENAM mutations that will allow consistent reporting and communication. (C) 2003 Elsevier Science Ltd. All rights reserved.

CD40 and dendritic cell function

CD40 has emerged as a key signaling pathway for the function of B cells, monocytes, and dendritic cells (DC) in the immune system, and plays a major role in inflammatory pathways of nonhemopoletic cells. CD40 is expressed by monocytes and DC and is up-regulated when DC migrate from the periphery to draining lymph nodes (DLN) in response to microbial challenge. CD154 signaling by MHC-restricted, activated CD4* T cells induces differentiation of DC, as defined by an increased surface expression of MHC, costimulatory, and adhesion molecules. Thus, CD40 functions in the adaptive immune response as a trigger for the expression of costimulatory molecules for efficient T-cell activation. CD40 ligation of DC also has the capacity to induce high levels of the cytokine IL-12, which polarizes CD4(+) T cells toward a T helper 1 (Th1) type, enhances proliferation of CD8(+) T cells, and activates NK cells. CD40 may also play an important role in the decision between tolerance and immunity and the generation of regulatory CD4(+) T cells that are thought to maintain peripheral self-tolerance in vivo.

ClC-5 chloride channel and kidney stones : what is the link?

Nephrolithiasis is one of the most common diseases in the Western world. The disease manifests itself with intensive pain, sporadic infections, and, sometimes, renal failure. The symptoms are due to the appearance of urinary stones (calculi) which are formed mainly by calcium salts. These calcium salts precipitate in the renal papillae and/or within the collecting ducts. Inherited forms of nephrolithiasis related to chromosome X (X-linked hypercalciuric nephrolithiasis or XLN) have been recently described. Hypercalciuria, nephrocalcinosis, and male predominance are the major characteristics of these diseases. The gene responsible for the XLN forms of kidney stones was cloned and characterized as a chloride channel called ClC-5. The ClC-5 chloride channel belongs to a superfamily of voltage-gated chloride channels, whose physiological roles are not completely understood. The objective of the present review is to identify recent advances in the molecular pathology of nephrolithiasis, with emphasis on XLN. We also try to establish a link between a chloride channel like ClC-5, hypercalciuria, failure in urine acidification and protein endocytosis, which could explain the symptoms exhibited by XLN patients.

The sense of ending: the closing of a psychiatric hospital in Lisbon - Hospital Miguel Bombarda

RESUMO: Este estudo foi realizado com o objectivo de conhecer os efeitos da desinstitucionalização dos doentes psiquiátricos crónicos durante o processo de encerramento do Hospital Miguel Bombarda (2007-2011). Este processo incluiu a fusão, em 2008, dos dois principais hospitais psiquiátricos de Lisboa- Hospital Miguel Bombarda (HMB) e Hospital Júlio de Matos (HJM), no Centro Psiquiátrico Hospitalar de Lisboa (CHPL). Foi criado um grupo controlo de pacientes ainda hospitalizados no CHPL (n=166) para comparação com o grupo de casos desinstitucionalizados (n=146). Desta amostra inicial (n=312) apenas 142 (76 casos e 66 controlos) foram incluídos, sendo as principais causas de exclusão: diagnóstico (patologia orgânica, demência ou debilidade mental, como diagnóstico primário) e transferência entre hospitais. A desinstitucionalização foi principalmente avaliada em termos de psicopatologia, utilização de serviços, satisfação, crime, condição de “sem abrigo” ou morte. Os resultados mostraram que a maioria dos doentes crónicos pode sair do hospital psiquiátrico para a comunidade sem agravamento da psicopatologia, aumento do crime ou da condição de “sem abrigo”. A satisfação parece estar aumentada na população desinstitucionalizada. A mortalidade, por outro lado, revelou-se uma questão problemática: apesar de não ter sido possível estabelecer uma comparação entre casos e controlos, a Taxa de Mortalidade Standard encontrada neste estudo foi muito superior ao esperado, de acordo com os resultados encontrados na literatura. Um estudo longitudinal da mesma população poderá ser objecto de futura investigação, possivelmente comparada com outra população similar de um programa de desinstitucionalização noutro país.--------- RÉSUMÉ: Cette étude a été menée afin de déterminer les effets de la désinstitutionnalisation des patients chroniques lors de la fermeture de l'hôpital Miguel Bombarda (2007-2011). Ce processus comprenait la fusion en 2008 de deux grands hôpitaux psychiatriques de Lisbonne: À savoir, Hôpital Miguel Bombarda (HMB) et Hôpital Julio de Matos (HJM), maintenant Centre de l'Hôpital Psychiatrique de Lisbonne (CHPL). Il a été créé un groupe contrôle des patients toujours hospitalisés à CHPL (n = 166) pour comparer avec les cas désinstitutionnalisés (n = 146). De cet échantillon initial (n= 312) à peine 142 (76 cas et 66 contrôles) ont été inclus, les principales raisons d'exclusion: diagnostique (maladie organique, démence ou d'arriération mentale comme diagnostic primaire) et les transferts entre hôpitaux. La désinstitutionnalisation a été principalement évaluée en termes de psychopathologie, de l'utilisation des services, la satisfaction, la criminalité, les “sans abri” et de la mort. Les résultats ont montré que la majorité des malades chroniques peuvent quitter l'hôpital psychiatrique et s´intégrer dans la communauté sans aggravation de la psychopathologie, augmentation de la criminalité ou du nombre de “sans-abri”. La satisfaction semble être en hausse dans la population désinstitutionnalisée. Toutefois, la mortalité s'est avéré être une question problématique, même si il n´a pas été possible d'établir une comparaison entre les cas et les contrôles, le Taux de Mortalité Standard estimé dans cette étude fut beaucoup plus élevé que prévu, en tenant compte des résultats établis dans la littérature. Une étude longitudinale de la même population pourra faire l'objet de futures recherches, peut-être comparé à une population similaire d'un programme de désinstitutionnalisation dans un autre pays. ----------- ABSTRACT:This study was conducted to assess the effects of deinstitutionalization of “long-stay” patients during the process of closing Hospital Miguel Bombarda (2007-2011). This process included the fusion, in 2008, of the two main psychiatric hospitals in Lisbon- Hospital Miguel Bombarda (HMB) and Hospital Júlio de Matos (HJM), into Centro Psiquiátrico Hospitalar de Lisboa (CHPL). A control group of still institutionalized patients in CHPL (n=166) was used as a comparison with the deinstitutionalized population (n=146). Of this 312 initial sample only 142 (76 cases and 66 controls) were included, the main causes of exclusion being diagnoses (organic disease, dementia and mental retardation- as first diagnoses) and transference between hospitals. Deinstitutionalization is mainly evaluated in terms of psychopathology, use of services, satisfaction, crime, vagrancy and deaths. The results show that most long-stay patients can successfully leave psychiatric hospitals and be relocated in the community without an increase in psychopathology, crime or vagrancy. Satisfaction seems to be improved in those patients. On the other hand, mortality remains an issue of concern: Although there was no possibility of comparing it between cases and controls, the Standard Mortality Rate (SMR) in our study was found to be much higher than expected judging by other studies results. A longitudinal further study of this same population will be the matter for a future investigation, possibily compared with another similar population from a desinstitutionalization programme in another country.

Incontinentia Pigmenti in the Neonatal Period

Incontinentia pigmenti (IP) is a rare multisystem disease, X linked dominant disorder. As all X linked dominant diseases, it is usually male-lethal. Female newborn admitted to the neonatal intensive care unit on the fi rst day of life was diagnosed as having probable herpetic infection with vesicular skin lesions distributed on upper right limb and inferior limbs. Family history showed that her 22-year-old mother had hypopigmented lesions on the lower limbs and her 13-month-old sister had hyperpigmented lesions on the trunk and limbs. In newborns, herpes infection emerges as the principal diagnosis of vesicular rash, due to the importance of precocious diagnosis and treatment. Other hypothesis must be considered in a newborn with vesicobullous rash, such as IP.

Successful Handling of Disseminated BCG Disease in a Child with Severe Combined Immunodeficiency

In high-burden countries, Mycobacterium bovis Bacillus Calmette-Guérin (BCG) vaccine is administered in newborn to prevent severe Mycobacterium tuberculosis infection. Because life-threatening disseminated BCG disease may occur in children with primary immunodeficiency, vaccination strategy against tuberculosis should be redefined in non-high-burden countries. We report the case of a patient with X-linked severe combined immunodeficiency (SCID) who developed disseminated BCG disease, highlighting the specific strategies adopted.