Drug dependence, mental impairment and education

This study aimed to evaluate the mental conditions of cocaine-dependent individuals and school commitment/attachment. We evaluated 50 patients referred to the psychiatry emergency room due to mental disorders from chemical dependence. After clinical diagnosis, clinical interview, Hospital Anxiety and Depression Scale, Hamilton Scale for Depression and Brief Psychiatric Rating Scale were applied. The Spearman and Mann-Whitney nonparametric tests, as well as the t-Student test were utilized for statistical analysis.. The accepted significance value was 0.05. All subjects had used cocaine or crack and other substances. Only 13 (26%) did not drop out of school (group 1). Regarding the other 37 (74%), irregular class attendance , successive failures and definitive school drop out rates (group 2) were verified. These subjects presented an early substance use when compared with those which did not drop out of school (p=0.0001). Patients with an early substance use presented higher school dropout rates than those with a later initiation to substance use. Psychopathological phenomena were frequent in both groups.

Service Use and Mental Impairment Among the Elderly: Arguments for Consultation and Education

Compared the service use patterns of older adults with varying levels of mental impairment, and assessed the effects of services received on their mental health status over a 1-yr period. Data were obtained from a US General Accounting Office (1977, 1979) study of 531 elderly persons (mean age 76.1 yrs), which included administration of a modified version of the Older Americans Resources and Services Multidimensional Functional Assessment Questionnaire. Ss were interviewed twice, 1 yr apart. 174 Ss were classified as having a mild psychiatric impairment, and 118 Ss had a severe psychiatric impairment. The existence of mental impairment was related to marital status, race, and level of education. Usage of mental health services was low, although mentally impaired Ss were more likely than unimpaired Ss to use social and medical services. Results also suggest that such services can have an important effect on the mental health of older persons.

Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy

P>Approximately 50% of all carriers of 2q21-q31 deletions present epileptic seizures. The band 2q24 constitutes the smallest commonly deleted segment in these patients, and contains the voltage-gated sodium channel genes SCN1A and SCN2A, associated with Dravet syndrome and benign familial neonatal-infantile seizures, respectively. A further putative locus involving epilepsy in the region was previously identified through disruption of the SLC4A10 gene by translocation. In the course of performing high-resolution DNA copy number analyses on syndromic mentally impaired individuals, we encountered three patients with overlapping deletions in chromosome region 2q24. Two of these patients exhibited epileptic seizures in addition to mental deficiency. The deletion in one of the epileptic patients did not include the SCN cluster, demonstrating that a less severe form of epilepsy maps to an adjacent genomic region. This second region comprises about 3 Mb and contains the candidate gene SLC4A10, providing further support for the potential role of this gene in epilepsy.

Puce a ADN: pourquoi et pour qui [Array CGH: why and to whom]

Structural genomic abnormalities play a key role in the pathogenesis of human disorders and represent one of the first causes of mental impairment, complex syndromes and tumors. In order to detect these chromosomal abnormalities, many methodologies have been developed with limits. The new ARRAY based Comparative Genomic Hybridization (ARRAY CGH) is a revolutionary approach which allows to characterize very small genetic abnormalities undetectable by the standard approaches and in the absence of any associated clinical information. The aim of this article is to describe why the application of a new array CGH methodology is necessary in the etiological search for genetic diseases, what the limits of the standard approaches are and to whom arrayCGH analyses can be applied in a pediatric environment. Examples of our practice will be presented.

Experience with molecular and cytogenetic diagnosis of fragile X syndrome in Brazilian families

We report on the cytogenetic and DNA analysis of 55 families with the fragile X (FMR-1 locus) mutation (318 individuals and 15 chorionic villi samples). A total of 129 males were investigated, 54 mentally normal and 75 presenting mental retardation. Among the 54 normal males, 11 had the premutation, and none expressed the fragile site. The full mutation was detected in 73 retarded males, and 14 (18%) presented a premutation along with the full mutation (mosaics). All of them manifested the fragile site. The frequencies of fragile site expression correlated positively with the sizes of the expansion of the CGG repeats (D). Among 153 normal females, 85 were found to be heterozygous for the premutation and 15 had the full mutation. In the premutated females the fragile site was not observed or it occurred at frequencies that did not differ from those observed in 53 noncarriers. Cytogenetic analysis was thus ineffective for the diagnosis of premutated males or females. Among the 51 heterozygotes for the full mutation, 36 (70%) had some degree of mental impairment. As in males, a positive correlation was detected between the frequencies of fragile site manifestation and the size of the expansion. However, the cytogenetic test was less effective for the detection of fully mutated females, than in the case of males, since 14% false negative results were found among females. Segregation analysis confirmed that the risk of mental retardation in the offspring of heterozygotes increases with the length of D. The average observed frequency of mental retardation in the offspring of all heterozygotes was 30%. There was no indication of meiotic drive occurring in female carriers, since the number of individuals who inherited the mutation did not differ from the number of those inheriting the normal allele. No new mutations were detected in the 55 genealogies studied here.

Promovendo uma interacção inclusiva,numa turma do 3º ciclo

O presente Trabalho de Projecto faz parte integrante do 2º ano do Curso de Mestrado em Educação Especial, nos domínios Cognitivo e Motor. Consta de um Projecto de Investigação - Acção, que contém a fundamentação, programação e intervenção que realizámos durante os 2º e 3º períodos do ano lectivo de 2009/10. Esta intervenção ocorreu, semanalmente, numa turma do 9º ano de escolaridade de um Agrupamento Vertical de uma Escola do Alentejo, na qual estava matriculado um jovem com Deficiência Mental Ligeira (DML), motivo do nosso projecto de acção. Esta turma, atendendo aos diferentes níveis de aprendizagem e às atitudes comportamentais praticadas por alguns alunos, necessitava de um trabalho de cooperação entre todos (alunos, professores, família e outros técnicos) e da aplicação de práticas lectivas baseadas numa diferenciação pedagógica inclusiva, para que efectivamente se conseguisse promover, no seu seio, uma efectiva inclusão escolar e social. O trabalho aqui perspectivado desenvolveu-se com base numa metodologia de investigação-acção com recurso aos seguintes instrumentos metodológicos: pesquisa documental, entrevista semi-directiva, observação naturalista e sociometria. Ao elaborarmos este trabalho, foi nossa intenção, dar a conhecer todos os procedimentos que sustentaram a Inclusão de um jovem considerado com DML, na sua turma, mais concretamente, na disciplina de Língua Portuguesa. Procurámos criar situações de trabalho a pares / em grupo e estratégias adequadas para que realizasse actividades idênticas, e no mesmo contexto que os restantes colegas da turma, de modo a que não se verificasse distinção entre os alunos considerados “normais” e o aluno considerado com Necessidades Educativas Especiais (NEE). Desta forma, fomentámos o sucesso educativo de todos os alunos, num ambiente de práticas pedagógicas inclusivas e colaborativas, atendendo à diversidade do público-alvo. Este Trabalho de Projecto foi um contributo para a prática de Inclusão de crianças e jovens considerados alunos com NEE, em contexto de sala de aula, em escolas do ensino regular e facilitou a elaboração e implementação de Planos de Aula, Grelhas de Avaliação, Reflexões críticas e Fichas de Trabalho, em parceria com o professor da disciplina de LP, no sentido de garantir metodologias e estratégias de ensino mais eficientes para se alcançar uma verdadeira Educação Inclusiva.

Incluindo alunos com défice cognitivo na sala de aula, através das aprendizagens académicas e sociais

O presente Trabalho de Projecto teve como finalidade potenciar o desenvolvimento de competências académicas ao nível da Língua Portuguesa, associadas ao desenvolvimento das Competências Sociais, numa turma de 2º e 3ºanos, do 1º ciclo, inserida numa escola do Distrito de Portalegre. Partindo do pressuposto que se trata de um projecto que assenta nas premissas da investigação- acção, procurou-se fazer a caracterização do contexto educativo, em particular de uma turma, incluindo uma aluna com défice cognitivo, fazendo o levantamento das metodologias, das estratégias adoptadas e as implicações que a inclusão desses alunos reveste no processo de ensino-aprendizagem. Tendo como quadro conceptual de referência a perspectiva inclusiva de Todos os alunos, implementou-se um conjunto de actividades na área da Língua Portuguesa e das Competências Sociais, através do trabalho de cooperação e de uma pedagogia de diferenciação pedagógica inclusiva. As estratégias e os conteúdos adoptados, com valores inerentes à cidadania e ao respeito pelos outros, permitiram dar resposta a uma turma que apresentava alunos com limitações, ao nível da leitura e da escrita e nos relacionamentos, incluindo a aluna com défice cognitivo e potencializando as capacidades de cada aluno. Como principal conclusão, após análise e reflexão dos resultados, constatámos que os alunos com incapacidades intelectuais evidenciam melhores resultados quando inseridos na sala de aula, socializando as aprendizagens.

Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1

Chromosome microdeletions or duplications are detected in 10-20% of patients with mental impairment and normal karyotypes. A few cases have been reported of mental impairment with microdeletions comprising tumor suppressor genes. By array-CGH we detected 4 mentally impaired individuals carrying de novo microdeletions sharing an overlapping segment of similar to 180 kb in 17p13.1. This segment encompasses 18 genes, including 3 involved in cancer, namely KCTD11/REN, DLG4/PSD95, and GPS2. Furthermore, in 2 of the patients, the deletions also included TP53, the most frequently inactivated gene in human cancers. The 3 tumor suppressor genes KCTD11, DLG4, and GPS2, in addition to the GABARAP gene, have a known or suspected function in neuronal development and are candidates for causing mental impairment in our patients. Among our 4 patients with deletions in 17p13.1, 3 were part of a Brazilian cohort of 300 mentally retarded individuals, suggesting that this segment may be particularly prone to rearrangements and appears to be an important cause (similar to 1%) of mental retardation. Further, the constitutive deletion of tumor suppressor genes in these patients, particularly TP53, probably confers a significantly increased lifetime risk for cancer and warrants careful oncological surveillance of these patients. Constitutional chromosome deletions containing tumor suppressor genes in patients with mental impairment or congenital abnormalities may represent an important mechanism linking abnormal phenotypes with increased risks of cancer. Copyright (C) 2009 S. Karger AG, Basel

Screening of ARHSP-TCC Patients Expands the Spectrum of SPG11 Mutations and Includes a Large Scale Gene Deletion

Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is commonly associated with mutations in SPG11/KIAA1840 on chromosome 15q. We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation. In 25 index cases we identified 32 mutations; 22 are novel, including 9 nonsense, 3 small deletions, 4 insertions, 1 in/del, 1 small duplication, 1 missense, 2 splice-site, and for the first time a large genomic rearrangement. This brings the total number of SPG11 mutated patients in the SPATAX collection to 111 cases in 44 families and in 17 isolated cases, from 16 Countries, all assessed using homogeneous clinical criteria. While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing. (C) 2008 Wiley-Liss, Inc.

Decision-Making Incapacity Among Nursing Home Residents: Results From the 1987 NMES Survey.

Recent legislative and regulatory developments have focused attention on older adults' capacity for involvement in health care decision-making. The Omnibus Budget Reconciliation Act of 1987 (OBRA 87) focused attention on the rights of nursing home residents to be involved in health care decision-making to the fullest extent possible. This article uses data from the 1987 National Medical Expenditure Survey (NMES) to examine rates of incapacity for health care decision-making among nursing home residents. Elements of the Oklahoma statute were used to operationalize decision-making incapacity: disability or disorder, difficulty in decision-making or communicating decisions, and functional disability. Fifty-three percent of nursing home residents had a combination of either physical or mental impairment and an impairment in either self-care or money management. The discussion focuses on the policy and practice implications of significant rates of incapacity among nursing home residents.

Thalamic stimulation for tremor. Subtle changes in episodic memory are related to stimulation per se and not to a microthalamotomy effect

The aim of this study was to investigate the impact of unilateral deep brain stimulation (DBS) of the ventrointermediate (Vim) thalamic nucleus on neuropsychological functioning comparing stimulation-on with stimulation-off conditions. Nine patients [five patients with Parkinson's Disease (PD), two patients with essential tremor (ET) and 2 patients with multiple sclerosis (MS)] underwent comprehensive neuropsychological testing for cognitive functions, including general mental impairment, aphasia, agnosia, executive and constructional abilities, learning, memory, cognitive processing speed and attention as well as depression. The neuropsychological assessments were performed at least 6 months postoperatively (mean 9 months). Testing in the stimulation-on and stimulation-off condition was obtained within a period of 3 to 4 weeks. Unilateral DBS resulted in improvement of tremor in all patients. There were no significant differences between the stimulation-on and the stimulation-off condition with the exception of a decrement of word-recall in the short delay free-recall subtest of the Rey Auditory-Verbal Learning Test (RAVLT). Subgroup analysis indicated that the impairment in word-recall was related to left-sided thalamic stimulation. Our study confirms that chronic unilateral DBS is a safe method with regard to cognitive function. The subtle changes in episodic memory are related to stimulation per se and not to a microthalamotomy effect.

[Gerodontology consultation in geriatric facilities: general health status (I)]

Dental undertreatment is often seen in the older population. This is particularly true for the elderly living in nursing homes and geriatric hospitals. The progression of chronic diseases results in loss of their independence. They rely on daily support and care due to physical or mental impairment. The visit of a dentist in private praxis becomes difficult or impossible and is a logistic problem. These elderly patients are often not aware of oral and dental problems or these are not addressed. The geriatric hospital Bern, Ziegler, has integrated dental care in the concept of physical rehabilitation of geriatric patients. A total of 139 patients received dental treatment in the years 2005/2006. Their mean age was 83 years, but the segment with > 85 years of age amounted to 46%. The general health examinations reveald multiple and complex disorders. The ASA classification (American Society of Anesthesiologists, Physical Status Classification System) was applied and resulted in 15% = P2 (mild systemic disease, no functional limitation), 47% = P3 (severe systemic disease, definite functional limitations) and 38% = P4 (severe systemic disease, constant threat to life). Eighty-seven of the patients exhibited 3 or more chronic diseases with a prevalence of cardiovascular diseases, musculoskelettal disorders and dementia. Overall the differences between men and women were small, but broncho-pulmonary dieseases were significantly more frequent in women, while men were more often diagnosed with dementia and depression. Verbal communication was limited or not possible with 60% of the patients due to cognitive impairment or aphasia after a stroke. Although the objective treatment need is high, providing dentistry for frail and geriatric patients is characterized by risks due to poor general health conditions, difficulties in communication, limitations in feasibility and lack of adequate aftercare. In order to prevent the problem of undertreatment, elderly independently living people should undergo dental treatment regularly and in time. Training of nurses and doctors of geriatric hospitals in oral hygiene should improve the awareness. A multidisciplinary assessment of geriatric patients should include the oral and dental aspect if they enter the hospital.

La música asociada a una mejor atención odontológica de la persona con discapacidad : experiencia de motivación desde la vivencia del odontólogo

Se puede definir a una persona portadora de discapacidad como aquella que padece una alteración funcional permanente o prolongada; motora, sensorial o mental, las cuales la hacen dependiente total o parcialmente de otros para sus necesidades básicas, implicando esto desventajas considerables para su integración familiar, social, educacional o laboral. La motivación del paciente con discapacidad es un paso importante en el abordaje y tratamiento, resultando un verdadero desafío. Las estrategias que existen en la actualidad son muy variadas y diversas pero muchas veces el odontólogo es reacio a utilizar metodologías innovadoras. El presente trabajo intenta mostrar una experiencia motivacional a partir de la música, donde el odontólogo es el protagonista. La meta que se persigue es lograr que la herramienta musical pueda ser utilizada con frecuencia en la atención odontológica del paciente.

Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult

Congenital disorders of glycosylation (CDG) are a recently described, underrecognized group of syndromes characterized biochemically by abnormal glycosylation of serum and cellular glycoproteins. We report a previously undiagnosed adult male who presented with early-onset cerebellar ataxia in the context of mental impairment, peripheral neuropathy, retinopathy, body dysmorphism, cardiomyopathy, and hypogonadism. Newly available screening and genetic testing confirmed the diagnosis as CDG type Ia. This case emphasizes that CDG should be considered as a differential diagnosis for adults with early-onset cerebellar ataxia, particularly in those persons with the aforementioned features, and that undiagnosed cases of childhood ataxia may require reassessment now that testing is available. © 2006 Movement Disorder Society

Transição para a vida adulta no contexto da deficiência : estudo das variáveis pessoais e sociais associadas a um processo de sucesso e desenvolvimento de um modelo de intervenção inclusivo

A transição da adolescência para a idade adulta é uma fase crucial do desenvolvimento de qualquer jovem, na qual são colocados vários desafios em relação ao seu futuro. Os adolescentes com deficiência enfrentam desafios adicionais: quando comparados com os seus pares, têm mais dificuldades em encontrar um percurso de vida adulta, por exemplo no emprego ou no prosseguimento de estudos. Por outro lado, a baixa participação social é um dos fatores que mais afeta a qualidade de vida. Percebendo-se que o processo de transição é multifacetado, as seis investigações apresentadas neste trabalho colocam o enfoque no próprio indivíduo, mas também em contextos importantes para a transição como a família, através da seguinte sequência de estudos: (1) dois estudos preliminares que caracterizam adolescentes e jovens com deficiência no que se refere a comportamentos ligados à saúde, estilos de vida e respetivas interacções com a satisfação com a vida; (2) dois estudos qualitativos que confirmam a problemática da transição e aferem os fatores críticos envolvidos, através das percepções de pais e jovens; e (3) dois estudos que fazem a análise do comportamento destes factores numa amostra de adolescentes e jovens com deficiência. Os resultados revelam um padrão de saúde e sintomático mais negativo nos jovens com deficiência quando comparados com os seus pares, e salientam a importância da relação com os outros significativos, em especial os pais. Os vários estudos mostram ainda que os contextos de vida devem proporcionar suportes adequados e atempados à transição e apelam para a importância do desenvolvimento de aptidões críticas, tais como a promoção de competências de autodeterminação, autoeficácia, e promoção da resiliência. Os resultados dos estudos são discutidos de forma integrada. São também feitas recomendações futuras desde a perspectiva individual até à das políticas e planeamento. Finalmente, é proposto um modelo do planeamento e desenvolvimento da transição que pretende ser orientador para todos os atores envolvidos no processo.