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Anthropology has provided a theoretical context for the study of disability. Social and cultural anthropology and medical anthropology have enriched our understanding of disability. Anthropological interpretations of disability feature concepts of “the other,” deviance, and stigma that can expand our interpretations of human behavior in the social environment.

SUMMARY Out of 1081 surviving children weighing 4 lb. or less at birth followed up when they were between 6 and 8 years of age, 102 (9.4 per cent) were found to have a history of one or more fits. Excluding children with cerebral palsy or mental deficiency, both of which conditions are commoner in children of this birth weight than in heavier children, a higher proportion of children had a history of fits than would be expected in the general population. There was some indication of an association between poor foetal growth and fits. RESUME Crises chez les enfants a poids de naissance faible Parmi 1.081 enfants d'un poids de naissance egal ou inferieur a 1.800 gr. observes de 6 a 8 ans on a decouvert chez 102 (9.4 pour cent) une ou plusieurs histoires de crises. Si l'on exclut les enfants atteints de paralysie cerebrale ou de deficience mentale, deux etats qui sont plus communs chez les enfants de ce poids de naissance que chez les enfants plus Iourds, la proportion d'enfants avec une histoire de crise est plus haute que celle prevue dans une population normale. II est apparu quelque indication d'une association entre faible croissance foetale et crises.

SUMMARY For more than 20 years a number of retarded children and adolescents have been observed who show points of striking similarity. We recognise in them a well-defined type that is clearly distinguishable from other forms of mental deficiency. They are therefore described in detail. Some of the children have had infantile hypercalcaemia but it is assumed that other aetiological factors are also involved. There is a characteristic facies and usually congenital heart disease. All the children are physically underdeveloped and their motor co-ordination is poor. There is a constant failure to thrive in infancy, with episodes of vomiting, often with constipation. Mentally the children also show great similarities. Their IQ is about 40–50 but they show outstanding loquacity and a great ability to establish interpersonal contacts. This stands against a background of insecurity and anxiety. RESUME Retard mental relie a l'hypercalcemie Nous avons observe pendant plus de 20 ans un certain nombre d'enfants et d'adolescents retardes qui presentaient sur certains points une similitude frappante. Nous reconnaissons chez eux un type bien defini, nettement distinct des autres formes de deficience mentale. Aussi decrivons-nous ces cas en details. Quelques uns des enfants ont eu de l'hypercalcemie infantile mais on pense que d'autres facteurs aetiologiques sont egalement impliques. Il y a un facies caracteristique et habituellement une atteinte cardiaque congenitale. Tous les patients sont physiquement sous-developpes et leur coordination motrice est deficiente. La croissance chez le nourrisson n'est jamais vigoureuse, il y a des episodes de vomissements et souvent constipation. Mentalement on note aussi de grandes similitudes. Le QI est approximativement entre 40 et 50, mais les enfants sont tres loquaces et ont une grande facilite a etablir des rapports personnels. Ceci se remarque beaucoup sur un fond d'insecurite et d'anxiete. ZUSAMMENFASSUNG Schwachsinn in Bezug auf Hypercalcaemie Seit uber 20 Jahren wurde von uns eine Reihe von schwachsinnigen Kindern und Jugendlichen beobachtet, die sich konstitutionell auffallig ahneln. Wir sehen in diesen Kindern einen umschriebenen Typ, der sich von andern Schwachsinnigen abgrenzen lasst und geben deshalb eine ausfuhrliche Beschreibung. Einige von ihnen haben eine idio-pathische Hypercalcaemie durchgemacht; wir nehmen aber an, dass noch andere Faktoren ursachlich eine Rolle spielen. Es besteht ein typischer Gesichtsausdruck und sehr haufig ein angeborener Herzfehler. Korperliche Unterentwicklung und leichte Koordinationsstorungen sind regelmassig vorhanden. Die Sauglingszeit ist stets durch Erbrechen, Gedeihstorungen und oft Obstipation kompliziert. Die psychische Struktur stimmt weitgehend uberein. Bei einem I.Q. etwa zwischen 40 und 50 besitzen sie eine bemerkenswert gute Beherrschung der Sprache und grosse Kontaktfreudigkeit, beides auf dem Hintergrund einer auffalligen Angst und Unsicherheit.

SUMMARY Considerable efforts have been directed towards the elucidation of the phenol compounds in the pathogenesis of phenylketonuria, but relatively little has been done towards denning the role of the indole compounds. Observations have been made regarding the levels of 5-hydroxy tryptamine, 5-hydroxy indoleacetic acid, and 5-hydroxy tryptophane decarboxylase in phenylketonuria, and their possible role in causing mental deficiency in the developing infant is discussed. RESUME Metabolisme des composes de l'indole dans la phenylcetonurie On a fait des efforts considerables pour elucider la question des composes du phenol dans la pathogenie de la phenylcetonurie mais on n'a relativement pas fait grand chose pour preciser le role des composes de l'indole. Nous trouvons ici des observations relatives aux taux de la 5-hydroxy tryptamine, de l'acide 5-hydroxy indoleacetique et de la 5-hydroxy tryptophane decarboxylase dans la phenylcetonurie et une discussion de leur role eventuel dans les causes de deficience mentale chez les enfants en cours de croissance. ZUSAMMENFASSUNG Stoffwechsel der Indoherbindungen bei Phenylketonuria Erhebliche Bemuhungen sind auf die Aufklarung der Rolle der Phenolverbindungen in der Pathogenie der Phenylketonuria gelenkt worden aber es ist verhaltnismassig wenig getan worden, urn die Rolle der Indolverbindungen zu erklaren. Hier findet man Beobachtungen hinsichtlich des Gehalts an 5-Hydroxytryptamin, 5-hydroxyindol-essigsaure und 5-Hydroxytryptophan decarboxylase bei Phenylketonuria und Erorterung uber ihre eventuelle Rolle in den Ursachen des Schwaschsinns bei aufwachsenden Kindern.

One hundred and twenty-nine children in the 8- to 12-year-old age group in Cardiff were ascertained to have mild mental deficiency. Detailed obstetric data were obtained which indicated that nearly 69% of the children were associated with adverse obstetric factors. Fifty-five per cent had the combined pathogenetic risk factors of pre-, peri- and neonatal adversities. Forty-two per cent of the cases had non-optimal perinatal factors and 45% were considered to have prenatal causation. There were four children with chromosomal anomalies. The various adverse obstetric influences are discussed separately.

In the period 1986–1988, a cross-sectional study was carried out in 21 mental deficiency institutions in two provinces of the Netherlands. One of the key-questions of this study was whether there are differences between the younger and older adult mentally handicapped in Dutch mental deficiency institutions, in prevalences of diseases and sensory handicaps, mobility, motor skills and social functioning. In this article, some results of the study are presented.

In a retrospective study, 32 patients with myotonic dystrophy, including congenital (n=17) and infantile/juvenile forms (n=15) were studied during a long follow-up lasting 7–28 years (median: 17 years). The clinical presentation was extremely variable; however, a continuum did exist between severe and less severe congenital forms, and later-onset forms, without genotype–phenotype correlation. We observed some unusual presentations, such as 3 cases of isolated club-feet during the neonatal period, and 7 patients (23%) with a completely isolated mental deficiency, language delay and school failure, who only completed the clinical picture several years later. Wechsler scale testing was performed in all cases, and repeated with 8 patients. It demonstrated a decrease in intellectual abilities in 5 patients, suggesting the possibility of a degenerative cerebral process occurring in these children. This decrease has also been reported in some adult cases. This study illustrates the extremely heterogeneous clinical presentation of myotonic dystrophy in childhood.

The authors report four unrelated girls presenting mild mental deficiency and a distinct malformation syndrome, mainly consisting of short stature, macrocranium, peculiar facies with prominent forehead, hypertelorism and exophthalmos, cardiac anomalies and cutis laxa with characteristic wrinkled palms and soles, typical ribs, small vertebral bodies and slender long bones. All were sporadic cases of non-consanguineous parents of advanced age at their births, suggesting a de novo autosomal dominant mutation.

The study was based on the historical-cultural approach of human development an on the enunciative-discursive language theory.

Este ensaio apresenta experiencias praticas sobre a Educacao Fisica para Pessoas Diversamente Habeis. Desde seu surgimento, varios autores apresentam diferentes definicoes, utilizando o termo “Educacao Fisica Adaptada” ou “Educacao Fisica Especial”. Mostra tambem a evolucao dos conceitos e como isto tem influenciado na vida dessas pessoas. As experiencias apontadas pelo professor Jose Luiz, certamente contribuiram para os avancos da area continuaram sendo referencia para alavancar novos rumos e tendencias na area de pesquisa. Palavras-Chave: Educacao Fisica adaptada; Educacao Fisica especial; Deficiencia mental. Abstract ADAPTED PHYSICAL EDUCATION: EXPERIENCE IN THE AREA Jose irineu Gorla This essay presents practical experiences on physical education for diversely skillful people. Since its sprouting some authors have been presenting different definitions of it using the term "adapted physical education" or "special physical education". the evolution of the concepts have also been shown, and this has influenced these people lives. The experiences pointed out by professor Jose Luiz had certainly contributed for the advances of this area and it has been a ongoing reference to create new routes and trends in this research area. Key-Words: Adapted physical education; Special physical education; Mental deficiency.

Personalised, genotype-based nutrition is a concept that links genotyping with specific nutritional advice in order to improve the prevention of nutrition-associated, chronic diseases. This review describes the current scientific basis of the concept and discusses its problems. There is convincing evidence that variant genes may indeed determine the biological response to nutrients. The effects of single-gene variants on risk or risk factor levels of a complex disease are, however, usually small and sometimes inconsistent. Thus, information on the effects of combinations of relevant gene variants appears to be required in order to improve the predictive precision of the genetic information. Furthermore, very few associations between genotype and response have been tested for causality in human intervention studies, and little is known about potential adverse effects of a genotype-derived intervention. These issues need to be addressed before genotyping can become an acceptable method to guide nutritional recommendations. © The Authors 2007.

Pneumosinus dilatans is a term used to describe a localized abnormal dilatation of one or more paranasal sinuses without radiological evidence of localized bone destruction, hyperostosis or mucous membrane thickening. The involvement of all paranasal sinuses and mastoid air cells has been named pneumosinus dilatans multiplex. Although the involvement of one or more paranasal sinuses has been reported widely, all paranasal sinuses and the concomitant involvement of mastoid air cells has been reported in only one case. Herein, we present three unusual cases of pneumosinus dilatans (one is a second case of pneumosinus dilatans multiplex in English literature, another is the first reported case of a frontal pneumosinus dilatans case associated with frontoethmoidal meningocele, mental retardation and facial asymmetry and the third one is pneumosinus dilatans with a huge arachnoid cyst) along with the review of relevant literature. © 2007 The British Institute of Radiology.

Reflections of the Senior Author The senior author (senior in more than one sense) was given cause to reflect on the meaning of the term mental retardation when he received his 30-year certificate and pin for continuous membership in the American Association on Mental Retardation in 2005. When he became a member of the organization in 1975 as a doctoral student at Columbia University, it was the American Association on Mental Deficiency that he joined. Although the focus of his studies at Columbia was mental retardation and even though that term had been the accepted terminology in the field for many years, the primary organization for students, professionals, scholars, and advocates in mental retardation still used the term mental deficiency in its moniker. This remained the case for the first 10 years of his membership. He is now a member, of course, of the American Association on Intellectual and Developmental Disabilities, the official name as of January 1, 2007. He is also a member and board member of the Division on Developmental Disabilities of the Council for Exceptional Children (CEC), which was formerly known as Mental Retardation and Developmental Disabilities (MR/DD), and earlier still as CEC-MR. Although these organizations have not explicitly rejected mental retardation as a term, they have clearly acknowledged the importance to their identities of terminology that is more inclusive, less stigmatizing, or both.

As pessoas com deficiência costumam ser estigmatizadas e excluídas do convívio social e das atividades consideradas normais. Para transformar essa realidade, a Assembléia Geral da ONU (1990) enfatizou o modelo de sociedade inclusiva, baseado no princípio de que todas as pessoas têm o mesmo valor e que a sociedade deve empenhar-se para atender as diferentes necessidades de cada cidadão. Dentro dessa visão, foi criado o Grupo de Teatro para Atores Especiais (G.T.P.A.Ê.), com o objetivo principal de possibilitar o desenvolvimento das habilidades pessoais e sociais da pessoa com deficiência mental, além de informar a sociedade sobre as reais potencialidades e limitações desses indivíduos. A intervenção se desenvolve durante laboratórios de teatro, passeios noturnos e apresentações do grupo. É possível observar expressões criativas dos participantes, assim como o desenvolvimento de autonomia e auto-estima. Também se observa um impacto das apresentações no público, que pode levar à diminuição de preconceitos e facilitar o processo de inclusão. People with deficiency are stigmatized and excluded from the social conviviality and of the ordinary activities. To transform that reality, the General Assembly of the UN (1990) emphasized the model of inclusive society, based on the principle that everyone has the same value and that society should make an effort to assist each citizen's different needs. According to this view, the Group of Theater for Special Actors (G.T.P.A.Ê.) was created, with the main objective of making possible the development of the personal and social abilities of people with mental deficiency, and of informing society about these individual's real potential and limitations. The intervention is developed during the rehearsals, night strolls and group spectacles. It's possible to observe the participants creative expressions, as well as the development of their autonomy and self-esteem. It's also possible to observe an impact of the spectacles on the public, what can decrease prejudice and facilitate the inclusion process.

Background: The incidence of congenital hypothyroidism (CH) is expected to be elevated in iodine-deficient areas. In this study, the authors aimed to determine the incidence of transient and permanent CH in a large city which is known to be in the zone of moderate iodine deficiency. Methods: Newborn babies in Bursa, Turkey, were screened by measurement of serum thyroid-stimulating hormone (TSH) obtained by heel prick. The babies who had a serum TSH >20 mIU/L were recalled for measurement of T4 and TSH in venous serum. Results: A total of 11 770 newborns were screened over a period of 9 years. The incidence of CH was found to be 1/840. However, after excluding the transient cases, permanent CH was diagnosed in 1/2354. It was impossible to distinguish transient patients from permanent CH by initial laboratory tests (P > 0.05). The estimated power of the study in determining the incidence of CH in the population was 90% (P < 0.05). Conclusion: The authors conclude that the incidence of CH is very high in their population which warrants a country-wide neonatal screening program. Since transient cases cannot be distinguished and untreated transient hypothyroidism may also cause mental retardation, treatment must be started as early as possible with frequent monitoring to optimize the outcome and identify the transient patients.

O presente trabalho tem como objetivo principal o conhecimento e a compreensão da relação que ex-alunos de escolas especiais mantêm com os seus bairros. Para a realização do estudo, foi proposta a produção de um vídeo aos participantes, tendo também como objetivo secundário uma reflexão sobre esse processo. A investigação parte de cinco perguntas norteadoras: 1) Como se constituiu o universo social dessas pessoas (ex-alunos de uma escola especial) para além dos muros institucionais da escola? 2) Será que a permanência na escola especial dificultou ao aluno o conhecimento de seu bairro e será que a saída da escola proporcionou essa aproximação? 3) Como vivenciaram e ocuparam o espaço do bairro? Quais foram as experiências mais significativas? Em que período da vida ocorreram? 4) Como é para essas pessoas morar na periferia? Será que o contexto comunitário (se existente) favoreceu de algum modo a sua socialização? 5) Em que medida o vídeo auxiliou no conhecimento da realidade vivida pelo participante da pesquisa? O estudo se caracteriza como uma pesquisa qualitativa, de orientação fenomenológica, tendo a pesquisa de tipo etnográfica como referência metodológica e a utilização do vídeo como recurso. Participaram da pesquisa 03 ex-alunos de escola especial: uma do sexo feminino, 23 anos, funcionária de uma empresa de limpeza, e dois do sexo masculino com 24 e 41 anos, ambos trabalhadores de uma oficina abrigada. Foram utilizados como critério de escolha dos participantes a independência na locomoção, que morassem desde criança no bairro e que demonstrassem interesse na participação da pesquisa. A pesquisa ocorreu em três bairros do Município de São Bernardo do Campo: a favela Boa Vista, a Vila Rosa e o Jardim das Orquídeas, esta última situada numa zona de manancial. As gravações dos bairros foram realizadas individualmente: a primeira experiência (piloto) ocorreu em um único encontro, com uma gravação de quinze minutos; a segunda ocorreu em cinco encontros e aproximadamente 60 minutos de gravação; a terceira e última foi realizada em seis encontros e aproximadamente 90 minutos de gravação. A organização do material composta pelas gravações em vídeo, áudio e anotações de campo ocorreu da seguinte forma: transcrição dos materiais (vídeo e áudio), observação das gravações em vídeo, apontamento das cenas/locais gravados e levantamento de temas. A discussão sobre os trabalhos foi feita primeiramente de modo individual e no final foi realizada uma discussão conjunta dos três trabalhos. O que se pode perceber é que cada um dos três participantes apresenta um modo bastante particular de se relacionar com o bairro e com diferentes níveis de integração. Observa-se também que, mesmo após saírem da escola especial, os três participantes mantêm vínculos com pessoas relacionadas a esse universo social. Pode-se perceber também que o contato com os espaços do bairro possibilitou a eles recordações de eventos da infância, assim como as conversas com os vizinhos proporcionaram a revitalização das memórias do passado. O estudo mostra, desse modo, como as pessoas com deficiência mental podem reconstruir as próprias histórias e podem participar da construção da memória coletiva de seus respectivos bairros. The main objective of the present work is the knowledge and comprehension of the relationship maintained by former students of Special Schools with their neighbourhood. In order to do so, the production of a vídeo was suggested to the participants, with the secondary objective of a reflection about this process. The investigation starts with 5 driving questions: 1) How was the social universe of these people (former students of a Special School) constituted beyond the institutional walls of the school? 2) Has their permanence at a Special School made it difficult for them to know their neighbourhood and their exit made this approach possible? 3) How have they lived and occupied the spaces in their neighbourhood? What were the most significative experiences? Which period of their life did they happen? 4) What is living in the suburbs like for these people? Did the communitary environment (if there is any) somehow favoured their socialization? 5) To what extend has the video filming given support to the knowledge of the reality lived by the participant of this research? This study is characterized by a Qualitative Research, with Phenomenological Approach, having the Etnographic type of research as a methodological reference and the use of video as a mean of investigation. Three (3) former students of Special Schools took part in this research: one female, 23 y.o., who works at a cleaning company; and 2 male, 24 and 41 y.o., both workers at a ?shelter workshop? (professional training and job for disabled). For their selection, the criteria were their independence to move, their living in the neighbourhood since childhood and having showed interest to take part in the research. The survey took place in three districts of São Bernardo do Campo City: Boa Vista, Vila Rosa and Jardim das Orquídeas Slums, this latter placed in a fountainhead reserve (Billings Reservoir). The recordings of the neighbourhood occurred individually: the first experience (pilot) happened in just one meeting, with a recording lasting 15 minutes; the second occurred in 5 meetings and lasted about 60 minutes; the third and last happened in 6 meetings and lasted about 90 minutes. The organization of the material composed by video and audio recordings and field notes was made as follows: material transcriptions (video and audio), observation of the video films and notes about the scenes / places recorded and, at last, the raising of themes. The discussion about the works was made at first individually and in the end there was a discussion about the three works altogether. We may notice that every participant presents a very particular way to relate with his neighbourhood and that there are different levels of integration. We may observe also that, even after leaving Special Schools, the three participants kept connections with the people referred in their social universe. We still may notice that the contact with the places in the neighbourhood has favoured their remembering events from childhood, as well as their conversations with neighbours have favoured the revival of memories from the past. Thus, the study shows how the people with mental deficiency may rebuild their own histories and participate in the construction of the collective memory of their neighbourhoods.

Objective Preterm children can experience cognitive and behavioral difficulties being able to be responsible for school difficulties going to the academic failure. The aim of this study was to assess the cognitive process while insisting on the early screening from the preschool age. Methods The data arise from the study of files and from the neuropsychological evaluations realized with the premature children followed in a regular way to the service. The premature children with or without motor disabilities more 4 and a half-years, old deficit integrated pre-school and ordinary school were included. The children with severe disabilities in upper limbs and the children having a mental deficiency were excluded. Results 30 middle-aged children 7 years 5 months have been included. The prematurity is between 27–34. The born term has an effect on the performances in particular on attention and visuo-spatial capacities. Conclusion The prematurity is a risk factor of the school future of the child. There is specially a negative impact on visuo-spatial and visuo-motor processes and those children present social and behavioral difficulties. It is mandatory to include the neuropsychological evaluation in any follow-up of premature child thanks to tests validated in the Tunisian context. It remains of great importance to identify effective interventions to improve the long-term neurocognitive outcomes.

This article, consisting of a scientific paper and a product of intervention, discusses the difficulty of future health professionals in the thematic approach sexuality, presenting aspects of knowledge and its representations. It is a qualitative research with analysis based on the meanings attributed to the object held at nursing schools, medicine and dentistry of a public institution. The study, fifteen trainees, five of each part listed course, randomly selected among those who performed the last period. Data collection took place between December 2013 and June 2014, with the collection instrument A semi-structured interview from the perspective of interpretation of the senses, performed by the researcher. After the data analysis three categories emerged: Difficulty approach / communication when it comes to sexuality; Invisibility sexuality and Invisibility sexuality of the disabled person. The results showed that students still have difficulties in addressing the theme sexuality, are with people with disabilities or not. It was also noted that conservative concepts and practices surrounding the subject, still perpetuate, even when dealing with almost graduating individuals of the three areas of surveyed health. Subjectivities and practices observed in the personal interrelationships refractory occur in professional practice. This fact is introduced enhanced, in the case of people with disabilities. This is a reality that needs a break these conservative concepts, possibly minimizing the effects of stigma in relation to population and sexuality. It showed also that the subject is restricted or absent approach in the study courses and, when present, is only related to biological aspects. Several developments or products: the holding of a seminar in a regional inter-institutional event - Congresso Acadêmico Integrado de Inovação e Tecnologia - CAIITE 2015 consists of an oral presentation of the survey and a round of conversation on the subject, besides the construction of an educational blog , in order to equip the graduates to approach the subject in their professional practices of critical and reflective way, arousing and motivating them to the theme of sexuality of normal people and disabled. O presente Trabalho Acadêmico de Conclusão de Curso - TACC, composto de um artigo científico e um produto de intervenção, discute a dificuldade dos futuros profissionais da saúde, na abordagem da temática sexualidade, apresentando aspectos relativos ao conhecimento e suas representações. Trata-se de uma pesquisa de abordagem qualitativa com análise baseada nos sentidos atribuídos ao objeto, com o objetivo de conhecer as representações de formandos de enfermagem, medicina e odontologia quanto a sexualidade do adolescente com deficiência, realizada nas faculdades de enfermagem, medicina e odontologia de uma instituição pública. Participaram deste estudo, quinze formandos, sendo cinco de cada curso elencado, selecionados aleatoriamente dentre aqueles que cursavam o último período. A coleta de dados aconteceu entre dezembro de 2013 e junho de 2014, tendo como instrumento de coleta uma entrevista semiestruturada sob a perspectiva da interpretação dos sentidos, realizada pela própria pesquisadora Após a análise dos dados emergiram três categorias: Dificuldade de abordagem/comunicação quando o assunto é sexualidade; Invisibilidade da sexualidade e Invisibilidade da sexualidade da pessoa com deficiência. Os resultados evidenciaram que os formandos ainda apresentam dificuldades em abordar o tema sexualidade, seja com pessoas deficientes ou não. Observou-se também que, conceitos e práticas conservadoras que envolvem o assunto, ainda se perpetuam, mesmo se tratando de indivíduos quase egressos das três áreas da saúde pesquisadas. As subjetividades e práticas observadas nas inter-relações pessoais se verificam refratárias na prática profissional. Tal fato apresentou-se potencializado, em se tratando da pessoa com deficiência. Essa é uma realidade que necessita de uma ruptura desses conceitos conservadores, minimizando possivelmente os efeitos do estigma em relação à população e a sexualidade. Evidenciou-se ainda, que o tema é de abordagem restrita ou ausente nos cursos estudados e que, quando presente, está relacionado apenas aos aspectos biológicos. Os resultados motivaram vários desdobramentos ou produtos: a realização de um Seminário num evento interinstitucional regional – Congresso Acadêmico Integrado de Inovação e Tecnologia – CAIITE 2015, constituído por uma apresentação oral da pesquisa realizada e uma roda de conversa sobre o tema, além da construção de um blog educacional , a fim de instrumentalizar os graduandos para a abordagem do assunto em suas práticas profissionais de forma crítica e reflexiva, despertando e os motivando para a temática da sexualidade da pessoa com e sem deficiência.

Background WDR81 (WD repeat-containing protein 81) is associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ2, [MIM 610185]). Human and mouse studies suggest that it might be a gene of importance during neurodevelopment. This study aimed at fully characterizing the structure of the wdr81 transcript, detecting the possible transcript variants and revealing its expression profile in zebrafish, a powerful model organism for studying development and disease. Results As expected in human and mouse orthologous proteins, zebrafish wdr81 is predicted to possess a BEACH (Beige and Chediak-Higashi) domain, a major facilitator superfamily domain and WD40-repeats, which indicates a conserved function in these species. We observed that zebrafish wdr81 encodes one open reading frame while the transcript has one 5′ untranslated region (UTR) and the prediction of the 3′ UTR was mainly confirmed along with a detected insertion site in the embryo and adult brain. This insertion site was also found in testis, heart, liver, eye, tail and muscle, however, there was no amplicon in kidney, intestine and gills, which might be the result of possible alternative polyadenylation processes among tissues. The 5 and 18 hpf were critical timepoints of development regarding wdr81 expression. Furthermore, the signal of the RNA probe was stronger in the eye and brain at 18 and 48 hpf, then decreased at 72 hpf. Finally, expression of wdr81 was detected in the adult brain and eye tissues, including but not restricted to photoreceptors of the retina, presumptive Purkinje cells and some neurogenic brains regions. Conclusions Taken together these data emphasize the importance of this gene during neurodevelopment and a possible role for neuronal proliferation. Our data provide a basis for further studies to fully understand the function of wdr81. Electronic supplementary material The online version of this article (doi:10.1186/s12868-015-0229-4) contains supplementary material, which is available to authorized users.

Este proyecto de intervención educativa se va a centrar en aplicar la denominada “zooterapia”, la cual es una metodología de intervención que da lugar a una serie dinámicas en las que se trabaja con animales, tanto de compañía como los denominados “salvajes”, los cuáles deberán poseer unas características similares, que serán las que les permitan ser idóneos para tratar con grupos específicos, como niños con deficiencias tanto psíquicas como motoras, así como personas de edad avanzada, en los que tienen un efecto muy positivo sobre la memoria, las habilidades sociales, etc. Los animales más aptos para este tipo de terapia son perros, caballos, burros y delfines, en su gran mayoría, aunque cada vez con mayor frecuencia podemos ver otras especies que sirven para realizar terapias, como pueden ser las chinchillas, por ejemplo. Las dinámicas que llevaré a cabo estarán centradas en niños con edades comprendidas entre los nueve y los dieciocho años, los cuáles padecen deficiencias relacionadas con la psicomotricidad y con deficiencias mentales, tanto ligeras como severas, y centraré mi proyecto de intervención en la aplicación de la zooterapia a la mejora de los problemas de estos niños concretos, en cómo los animales pueden ayudar a su estimulación tanto cognitiva como sensorial, a la incrementación de sus habilidades sociales personales y a su psicomotricidad, para que en su día a día, en nuestra sociedad tengan la mejor calidad de vida posible, para que puedan llevar una vida lo más normal que podamos conseguir, y para ayudar a las familias a resolver muchas problemáticas que por sí mismas no podrían sin la ayuda de profesionales de la educación especial., Universidad de Granada. Facultad de Ciencias de la Educación. Grado en Pedagogía

Le travail des professionnels en foyer occupationnel vise à proposer aux déficients mentaux, sous la forme d’ateliers collectifs, une série d’activités devant leur permettre d’en socialiser et d’en contrôler pour partie l’expression et les symptômes, en les remettant en contact avec la part non déficiente ou moins déficiente d’eux‑mêmes. Les premiers résultats d’une enquête conduite par observation participante et recueil d’entretiens non directifs auprès de professionnels et d’usagers d’un tel établissement permettent de comprendre comment ces professionnels sont amenés, malgré eux, à reproduire les « effets de clôture » au démantèlement desquels ils entendent pourtant précisément œuvrer : face aux déficients, ils sont spontanément institués comme gardiens d’un ordre que l’expression de la déficience, si elle n’est pas civilisée, fait paradoxalement vaciller d’abord chez ceux qui ont fait le choix de se consacrer professionnellement à leur promotion et à leur réhabilitation. The work of professionals in an occupational centre aims to offer mentally deficient people a series of activities, in the form of collective workshops, allowing them to socialize and control, in part, the expression and symptoms of their deficiencies, by putting them back in contact with the non- or less deficient part of themselves. The first results of a piece of research conducted through participant observation and non-directive interviews with professionals and with users of such a structure help us to understand how these professionals are led, in spite of themselves, to reproduce the very « closure effects » which they intend to work towards dismantling: faced with the deficient people, they are spontaneously established as guardians of an order that the expression of deficiency, if it is not civilized, paradoxically weakens among those who have chosen to devote themselves professionally to their promotion and rehabilitation.

In the late nineteenth and early twentieth centuries, several writers seemed convinced of a strong link between intellectual and developmental disabilities and crime (Scheerenberger 1983). In 1921, Goddard suggested that up to 50 per cent of people in prisons were ‘mentally defective’ while Terman (1911) wrote that ‘There is no investigator who denies the fearful role of mental deficiency in the production of vice, crime and delinquency … not all criminals are feeble minded but all feeble minded are at least potential criminals’ (p. 11). Clearly there has been historical unease about people with intellectual disabilities and their potential for crime. This chapter will review the trends and developments of research in the field over the last 60 years or so.

Identification of the needs of children with special needs and the organization of proper educational settings in light of their needs is the only way to ensure that they will become independent and productive individuals within the societies they live in. There are various educational settings such as special education schools, special classrooms, and mainstream classrooms in which the educational needs of children with special needs are met. The education of children with special needs in regular classrooms, which is also known as inclusive education, is the most common practice in this respect. The success of inclusive education is highly dependent on the collective and active participation of teachers, administrators, parents, typically developed peers and the children with special needs as well as societal acceptance, the realization and valuing of these children's needs, organization of effective administration and education, behavioral and classroom control, and via assistive special education services. A review of related literature showed that almost all of the studies have concentrated on the opinions, recommendations and attitudes of teachers, administrators, parents of children with special needs or with typically developed children and typically developed peers towards inclusive education; however no study that concentrated was found that involved children with special needs who are the actual beneficiaries of inclusive education. This study aims to identify the opinions and problems of children with mental deficiency and learning disability on inclusive education and explain the points which are vital for teachers to consider in order for inclusion to be a success. The study included 14 primary, secondary and high school students, which were chosen using the purposeful sampling method. Semi-structured interviews were used to collect the data for this qualitative case study and the data was analyzed inductively. The results of the study showed that inclusive classes did not include the necessary differentiation and adaptation specified towards mental deficiency and learning disability in terms of their content, process and product dimensions. Moreover, it was found that these classes concentrated more on inappropriate behavior rather than appropriate behavior and that the inappropriate behavior of the students was tried to be minimized using punishments rather than reinforcement practices. Furthermore, the results indicated that students were not encouraged to participate in social activities most of the time and that the necessary support from typically developed peers was not taken. Additionally, contrary to our expectations it was seen that the students' relationships with their peers were good, they did seek support from their family members in matters they had difficulty with, and surprisingly they did not have any expectations from the training they received and their participation to the training was limited.

Recepción: 4 de octubre de 2015 | Revisión: 6 de septiembre de 2015 | Aceptación/Publicación: 7 de octubre de 2015, Correspondencia: liormar@alumni.uv.es | raul.tarraga@uv.es, La autodeterminación es la capacidad para tomar decisiones respecto a la calidad de vida propia sin interferencias de otras personas en la emisión de juicios propios. El desarrollo de esta capacidad es especialmente relevante en los casos de discapacidad intelectual. El objetivo de este trabajo es desarrollar esta capacidad en una estudiante con discapacidad intelectual utilizando para ello la formación matemática. Método: Participante. Una adolescente de 15 años con discapacidad intelectual leve. Intervención. 23 sesiones, que persiguen fomentar la autonomía de la alumna a partir de los contenidos matemáticos que indica su ACIS en esta materia. Instrumento de evaluación. Escala Integral de Evaluación Objetiva y Subjetiva de la Calidad de Vida de Personas con Discapacidad Intelectual (Verdugo, Gómez, Arias y Schalock, 2009). Resultados. Los resultados apuntan en una línea positiva, si bien se evidencia la necesidad de continuar interviniendo por esta línea para alcanzar, en un grado más elevado, el objetivo propuesto. Discusión. Se discuten los resultados de la intervención en base a otros estudios similares y se realizan propuestas de mejora., Self-determination is the ability to make decisions about the quality of life without interference from others in issuing judgments. The development of this capability is especially relevant in cases of intellectual disability. The objective of this work is to develop this capability in a student with intellectual disabilities through mathematical training. Method: Participant. A 15 year old with mild intellectual disabilities. Intervention. 23 sessions, which aim to encourage student autonomy trough mathematical training. Assessment tool. Integral scale. Objective and Subjective Quality of Life Assessment of Persons with Intellectual Disability (Verdugo, Gómez Arias and Schalock, 2009). Results. The results point to a positive line, although it's needed to continue the intervention to reach the goal of the research. Discussion. Intervention results are discussed and confronted with similar studies and proposals for improvement are made., Universidad de Granada. Departamento de Psicología Social. Proyecto de Innovación Docente ReiDoCrea

Treballs Finals de Grau d'Educació Social, Facultat d'Educació, Universitat de Barcelona, Curs: 2014-2015, Tutora: Laura Rubio, [cat] Aquesta investigació es basa en buscar quins estereotips té la societat del Bages entorn la discapacitat intel·lectual per després contrastar-ho amb la vivència personal de tres persones amb discapacitat intel·lectual. Per dur a terme la investigació ha estat necessari construir una base teòrica, on es defineix clarament el constructe de discapacitat intel·lectual, així com també el concepte d’estereotip. Per realitzar-ho s’ha utilitzat una metodologia mixta. Per la part quantitativa, s’han analitzat 350 enquestes i per la banda qualitativa s’han analitzat tres entrevistes. Per realitzar l’estudi s’agafen com a base cinc dimensions del concepte qualitat de vida. Com a conclusions principals, s’ha vist que en les àrees d’inclusió social i autodeterminació hi ha coincidència entre el que pensa la societat i la vivència de les tres persones, mentre que en les altres tres àrees, no., [eng] This investigation focuses on searching the stereotypes around intellectual disability in Bages society to contrast them with the personal experience of three people with intellectual disabilities. To do it, first of all, it is necessary to build a theoretical frame where the main concepts are defined, concepts such as intellectual disability or stereotype. After that, a mixed investigation methodology has been used; on one hand, the quantitative part, in which 350 surveys were made; on the other hand, the qualitative part, in which three personal interviews have been analysed. Finally, to analyse the investigation results, five dimensions of the concept quality of live have been considered. The main conclusion is that, in general, there’s agreement between the ideas of the general population and the three interviewed persons in the areas of social inclusion and self-determination, whereas there is a lack of coincidence on the vision of the other areas.

Two evolutions are involved in shaping insanity as a general defense: medical and legal. The medical evolution reflects developments in the understanding of the phenomenon of mental disorders; the legal evolution reflects the elaboration of the social consequences of insanity in daily situations. Both evolutions are discussed below.

This study aims to investigate how mental health is being addressed by the comprehensive health care practice of the Family Health Program (FHP). To this purpose we performed a participative research in a unit of this Program in the city of Recife. After discussing the issue with the team it was decided to focus on the psychosocial aspects related to this comprehensive approach. A questionnaire was constructed and answered by a sample of 88 individuals under treatment with “controlled drugs”. The profile of these patients showed a trend to precarious social insertion. The therapeutic course demonstrates that the FHP is not working as an “entrance door” to mental health. We observed some commonsense conceits such as: convulsion, nerves, depression and mental deficiency. The most commonly used drugs were: diazepam, phenobarbital, haloperidole. 44,3% of patients who participated in the study had been admitted to a psychiatric hospital before. In our final considerations we emphasize the importance of understanding the common knowledge of the patients to allow for an integrative health/mental health care approach and highlight the possibility of providing therapeutic care through service networks.

Este trabalho de pesquisa desenvolveu e avaliou um procedimento de formação de um grupo de planejamento de programa de suporte comunitário, visando atender a necessidade de preparação, encaminhamento, colocação e apoio ao jovem e adulto com deficiência mental no ambiente natural de trabalho. O procedimento procurou integrar as diferentes agências já existentes na comunidade para planejar, desenvolver, implementar e avaliar diversos serviços relativos à formação do deficiente mental para o trabalho, desde a transição da escola especial para o trabalho até a colocação e manutenção em uma ocupação remunerada. Foram convidados para participar no grupo, representantes de setores expressivos da comunidade local. Sete passos referentes à organização grupo foram implementados: 1) constituição da equipe; 2) identificação e descrição das necessidades da comunidade; 3) identificando os membros da equipe; 4) inicio do planejamento; 5) definição da missão do grupo; 6) avaliação de oportunidades de mudança e 7) estabelecimento de objetivos e atividades. Os resultados apontaram onze aspectos de conteúdo para análise do processo realizado. Observaram-se grandes dificuldades na manutenção do grupo, o que impediu que o procedimento fosse aplicado até o final do planejamento. Foi apresentado uma análise das possíveis razões dessas dificuldades, e proposto um curso para divulgar e discutir o conceito de planejamento de programa de suporte para o trabalho do deficiente mental adulto e estimular novos grupos em outras comunidades. This research attempted to develop a community program planning to meet the needs derived from the development, training, placement and support of mentally retarded adults working in the natural environment. Community program planning requires the integration of several agencies in the community in order to plan, implement and assess services. Representatives of several community agencies participated. Seven steps leading to the organization of the proposed group were implemented: 1) starting the team; 2) defining community needs; 3) identifying team members; 4) starting the planning meeting; 5) defining the mission of the community program planning group; 6) evaluating the opportunity to change; 7) proposing objectives and activities. The results showed that the objectives proposed were partially met. However, great difficulties were observed in group maintenance. The proposal had to be interrupted before the end of the program. The reasons for such difficulties were analyzed and publication and discussion of the concept of community program planning teams was proposed to meet the needs involved in supporting the work of mentally retarded adults. It was also proposed that the procedure be replicated in different communities, to control for local variables, and as an incentive to the development of new work groups.

Este trabalho de pesquisa desenvolveu e avaliou um procedimento de formação de um grupo de planejamento de programa de suporte comunitário, visando atender a necessidade de preparação, encaminhamento, colocação e apoio ao jovem e adulto com deficiência mental no ambiente natural de trabalho. O procedimento procurou integrar as diferentes agências já existentes na comunidade para planejar, desenvolver, implementar e avaliar diversos serviços relativos à formação do deficiente mental para o trabalho, desde a transição da escola especial para o trabalho até a colocação e manutenção em uma ocupação remunerada. Foram convidados para participar no grupo, representantes de setores expressivos da comunidade local. Sete passos referentes à organização grupo foram implementados: 1) constituição da equipe; 2) identificação e descrição das necessidades da comunidade; 3) identificando os membros da equipe; 4) inicio do planejamento; 5) definição da missão do grupo; 6) avaliação de oportunidades de mudança e 7) estabelecimento de objetivos e atividades. Os resultados apontaram onze aspectos de conteúdo para análise do processo realizado. Observaram-se grandes dificuldades na manutenção do grupo, o que impediu que o procedimento fosse aplicado até o final do planejamento. Foi apresentado uma análise das possíveis razões dessas dificuldades, e proposto um curso para divulgar e discutir o conceito de planejamento de programa de suporte para o trabalho do deficiente mental adulto e estimular novos grupos em outras comunidades.This research attempted to develop a community program planning to meet the needs derived from the development, training, placement and support of mentally retarded adults working in the natural environment. Community program planning requires the integration of several agencies in the community in order to plan, implement and assess services. Representatives of several community agencies participated. Seven steps leading to the organization of the proposed group were implemented: 1) starting the team; 2) defining community needs; 3) identifying team members; 4) starting the planning meeting; 5) defining the mission of the community program planning group; 6) evaluating the opportunity to change; 7) proposing objectives and activities. The results showed that the objectives proposed were partially met. However, great difficulties were observed in group maintenance. The proposal had to be interrupted before the end of the program. The reasons for such difficulties were analyzed and publication and discussion of the concept of community program planning teams was proposed to meet the needs involved in supporting the work of mentally retarded adults. It was also proposed that the procedure be replicated in different communities, to control for local variables, and as an incentive to the development of new work groups.