Introdução: Com a sofisticação das técnicas de análise do DNA, a medicina moderna tem à sua disposição boas possibilidades para elucidar quadros clínicos indefinidos em pacientes que possuem microrrearranjos cromossômicos complexos. O desenvolvimento da técnica de MLPA (Multiplex ligation-dependent probe amplification) aliado à tecnologia dos arrays (WGAS - whole genome array screening) possibilitou analisar de uma só vez, diferentes regiões de interesse clínico no genoma humano. Objetivo: O presente trabalho teve como objetivo estudar pacientes com atraso de desenvolvimento neuropsicomotor (ADNPM) associado à malformação congênita (MC) com cariótipo prévio normal ou inconclusivo. Material e métodos: Participaram do estudo 71 pacientes com ADNPM associado à MC que foram analisados utilizando o teste de MLPA com os kits P036 e P064, seguido de WGAS com as diferentes plataformas (Agilent, Affymetrix e Illumina). Resultados: Entre os 33 pacientes com alterações patogênicas e de significado clínico incerto (VOUS) encontramos: 12 pacientes com deleção, 5 com duplicação e 16 com duplicações e deleções (dup/del) concomitantes. Foram 29 pacientes com alterações patogênicas conclusivas, 4 pacientes com CNVs classificadas como VOUS e 15 pacientes tiveram resultado de array normal além dos outros 23 que apresentaram alterações benignas, ou por não apresentarem genes na região alterada, ou por serem genes sem fenótipos descritos, ou ainda, as alterações foram herdadas de genitores normais. Na casuística total foram encontrados 4 pacientes com regiões de perda de heterozigosidade. Conclusões: A utilização de uma estratégia combinada utilizando diferentes kits de MLPA, com capacidade para detectar as principais microalterações genômicas patogênicas conhecidas, associada à aplicação do WGAS possibilitou a detecção de alterações submicroscópicas, bem como a correlação clínica adequada para pacientes não diagnosticados pela citogenética clássica. Dessa forma, nosso estudo sugere um novo modelo para a aplicação combinada desses testes que representa uma alternativa de bom custo-benefício para a triagem genômica e definição diagnóstica dos pacientes com quadros sindrômicos complexos e suas famílias / Introduction: The recent technological advances on DNA-based techniques have established in modern medicine good opportunities to elucidate undefined clinical cases in patients with complex chromosomal microrearrangements. The performance of MLPA (Multiplex ligation-dependent probe amplification) technique together with array technologies (WGAS - whole genome array screening) created the possibility of one single experiment to analyze different regions of interest in the human genome. Objective: Patients with psychomotor delay (PSMD) associated with multiple congenital anomalies who had normal or inconclusive G-band-karyotype (MCA) were studied in order to understand the genotype-phenotype correlations. Material and methods: This study involved 71 patients with psychomotor delay (PSMD) associated with multiple congenital anomalies (MCA) analyzed by MLPA (P036 and P064 kits), followed by WGAS different platforms (Agilent, Affymetrix e Illumina®). Results: Among 33 patients with pathogenic and uncertain (VOUS) copy number variations (CNV) were found: 12 deletions, 5 duplications and 16 concomitant duplication and deletion (dup/del). There were 29 patients with conclusive pathogenic findings, 4 patients with VOUS and 16 patients with normal array, but others 23 patients with benign results, which means there is no gene content in the region involved, or because these genes were not linked to phenotype, or even due to CNVs inherited of healthy parents. From the whole casuistic, 4 individuals presented loss of heterozygosity (LOH) regions. Conclusions: The use of a combined strategy of analysis (MLPA - WGAS) with a high capacity to detect pathogenic CNVs allows unraveling microscopic imbalances, and consequently, offers an adequate clinical correlation for patients not previously diagnosed by classical cytogenetics. In conclusion, this study suggests a new model for the combined application of these techniques, which represents an optimal alternative for a genomic screening and diagnostic establishment in patients with rare complex disorders and their families

Teaching students with Intellectual Disability (ID) is a relatively new endeavor. Beginning in 2001 with the passage of the No Child Left Behind Act, the general education curriculum integrated algebra across the K-12 curriculum (Kendall, 2011; National Governors Association Center for Best Practices & Council of Chief State School Officers, 2010), and expansion of the curriculum included five intertwined skills (productive disposition, procedural fluency, strategic competence, adaptive reasoning, and conceptual understanding) (Kilpatrick, Swafford, & Findell, 2001). Researchers are just beginning to explore the potential of students with ID with algebra (Browder, Spooner, Ahlgrim-Delzell, Harris & Wakeman, 2008; Creech-Galloway, Collins, Knight, & Bausch, 2013; Courtade, Spooner, Browder, & Jimenez, 2012; Göransson, Hellblom-Thibblin, & Axdorph, 2016). Most of the research examines the development of procedural fluency (Göransson et al., 2016) and few researchers have explored high school level skills. Using a single-case multiple-baseline across participants design, the study proposes to teach two algebra skills to six high school students with ID, creating an equation (y=mx+b) from a graph of a line and creating a graph from an equation. The six high school students with ID will be recruited from a school district in central Virginia. The intervention package modeled after Jimenez, Browder, and Courtade (2008), included modeling, templates, time delay prompting, and a task analysis. Results showed that all six individuals improved performance during intervention for the target skills over baseline; results also indicated that in three out of the six cases some generalization to the inverse skill occurred without supplemental intervention. The ability of individuals with ID to generalize the learning without intervention provides some evidence that individuals with ID are developing conceptual understanding while learning procedural fluency.

(Truncated abstract) The aims of this thesis are: (i) To estimate the prevalence of psychiatric illness among persons with intellectual disability and, conversely, the prevalence of intellectual disability among persons with a psychiatric illness; (ii) To describe the disability and service utilisation profile of persons with conjoint disorder; (iii) To examine, in particular, intellectual disability co-occurring with schizophrenia; and (iv) To explore the role of hereditary and environmental (specifically obstetric) risk factors in the aetiology of (i) intellectual disability and (ii) intellectual disability co-occurring with psychiatric illness. This thesis has a special interest in the relationship between intellectual disability and schizophrenia. Where data and sample sizes permit, it explores that relationship at some depth and has included sections on the putative nature of the link between intellectual disability and schizophrenia in the introductory and discussion chapters. To realise its objectives, the thesis comprises a core study focusing on aims (i) – (iii) and a supplementary study whose focus is aim (iv). It also draws on work from an ancillary study completed prior to the period of candidacy...This thesis found that, overall, 31.7% of persons with an intellectual disability had a psychiatric illness; 1.8% of persons with a psychiatric illness had an intellectual disability. The rate of schizophrenia, but not bipolar disorder or unipolar major depression, was greatly increased among cases of conjoint disorder: depending on birth cohort, 3.7-5.2% of individuals with intellectual disability had co-occurring schizophrenia. Down syndrome was much less prevalent among conjoint disorder cases despite being the most predominant cause of intellectual disability while pervasive developmental disorder was over-represented. Persons with conjoint disorder had a more severe clinical profile including higher mortality rates than those with a single disability. The supplementary study confirmed the findings in the core body of work with respect to the extent of conjoint disorder, its severity, and its relationship with pervasive development disorder and Down syndrome. Moreover, the supplementary study and the ancillary influenza study indicated a role for neurodevelopmental insults including obstetric complications in the adverse neuropsychiatric outcomes, with timing of the insult a potentially critical element in defining the specific outcome. The supplementary study also added new information on familiality in intellectual disability. It found that, in addition to parental intellectual disability status and exposure to labour and delivery complications at birth, parental psychiatric status was an independent predictor of intellectual disability in offspring as well as a predictor of conjoint disorder. In conclusion, the facility to collect and integrate records held by separate State administrative health jurisdictions, and to analyse them within the one database has had a marked impact on the capacity for this thesis to estimate the prevalence of conjoint disorder among intellectually disabled and psychiatric populations, and to understand more about its clinical manifestations and aetiological underpinnings.

La présente recherche a pour objet la pratique orthophonique en suppléance à la communication (SC) auprès de personnes qui ont une déficience intellectuelle (DI). Des recherches ont montré que les aides à la communication à sortie vocale (ACSV) pouvaient améliorer la communication des personnes ayant une DI. Cependant, la plupart de ces recherches ont été menées dans des conditions idéales qui ne reflètent pas nécessairement celles que l’on retrouve dans les milieux cliniques typiques. On connaît peu de choses sur les pratiques professionnelles en SC auprès des personnes ayant une DI. Le but de cette recherche est de décrire la pratique orthophonique, de documenter les perspectives des utilisateurs sur les résultats des interventions et de décrire l’implication des parents et leurs habiletés à soutenir leur enfant dans l’utilisation d’une ACSV afin de proposer un modèle d’intervention en SC auprès de cette clientèle qui tienne compte de ces différentes perspectives. Une méthode qualitative a été choisie pour réaliser la recherche. Des entrevues individuelles semi-structurées ont été réalisées avec onze orthophonistes francophones et avec des parents ou familles d’accueil de dix utilisateurs d’ACSV et des entrevues structurées ont été menées avec huit utilisateurs d’ACSV. Un outil d’entrevue a été conçu à l’aide de pictogrammes pour permettre aux utilisateurs d’ACSV de répondre à des questions portant sur leur appréciation et utilisation de leur ACSV, leur satisfaction et priorités de communication. Un cadre conceptuel a été conçu à partir des guides de pratique clinique et un codage semi-ouvert a été utilisé pour réaliser les analyses thématiques des données provenant des orthophonistes. Un codage ouvert a servi à analyser les données provenant des parents. Des analyses descriptives ont servi à examiner les réponses des utilisateurs. Diverses procédures ont assuré la crédibilité des analyses. Entre autres, les analyses des entrevues des orthophonistes ont été validées lors d’un groupe de discussion avec sept participantes orthophonistes. Les résultats montrent que les ACSV sont utilisées surtout dans le milieu scolaire. Elles sont parfois utilisées lors des loisirs et dans la communauté, mais ces contextes sont ceux où les utilisateurs ont exprimé le plus d’insatisfaction et où se situe la majeure partie des priorités qu’ils ont identifiées. Les analyses ont permis d’identifier les facteurs qui rendent compte de ces résultats. Les orthophonistes manquent d’outils pour réaliser des évaluations exhaustives des capacités des clients et elles manquent de procédures pour impliquer les parents et obtenir d’eux une description complète des besoins de communication de leur enfant. Conséquemment, l’ACSV attribuée et le vocabulaire programmé ne répondent pas à l’ensemble des besoins de communication. Certaines orthophonistes manquent de connaissances sur les ACSV ou n’ont pas le matériel pour faire des essais avec les clients. Il en résulte un appariement entre la personne et l’ACSV qui n’est pas toujours parfait. À cause d’un manque de ressources en orthophonie, les parents sont parfois laissés sans soutien pour apporter les changements à la programmation lors des transitions dans la vie de leur enfant et certains ne reçoivent pas d’entraînement visant à soutenir l’utilisation de l’ACSV. Un modèle d’intervention en SC est proposé afin d’améliorer la pratique orthophonique auprès de cette population. / This research targets the practices in Augmentative and Alternative Communication (AAC) of speech-language pathologists (SLPs) who work with individuals who have an intellectual disability (ID). Prior research has shown that speech generating devices (SGDs) can help individuals with ID to improve their communication. However, these studies were conducted under ideal conditions, which do not necessarily reflect those that prevail in typical clinical settings. We have little information about AAC practices with individuals with ID or about the efficacy of SGD attribution and AAC intervention under typical conditions. The goals of this research are therefore to describe AAC practices of SLPs with individuals who have an ID, to document the users’ perspectives on the outcome of AAC interventions and to describe the parents’ implication and their abilities to support their child’s use of an SGD in order to propose an intervention model that takes into account these different perspectives. Qualitative methods were chosen to address these questions. Individual semi-structured interviews were conducted with eleven French-speaking SLPs and with the parents or foster families of ten SGD users, and structured interviews with eight SGD users. These interviews were analyzed in order to gather information about research questions. An evaluation tool, made of graphic symbols, was developed to gather information from SGD users about their use of their SGD, their satisfaction, and communication priorities, and about their appreciation of their SGDs. A conceptual framework was developed based on clinical practice guidelines to analyze SLP’s interviews, and a thematic analysis was conducted with semi-open coding. Open coding was used for the data from parents’ interviews, and descriptive analysis of the SGD users’ responses was performed. Steps were taken to ensure credibility of the findings; in particular a focus group was conducted with seven of the participating SLPs to validate the interview results. The results showed that the SGDs are used most frequently in school settings. They are used only occasionally in leisure activities and in the community, but these are the contexts in which the users were most dissatisfied with their communication and in which they most frequently indicated priorities for communication. Factors that explain these results were identified through thematic analysis. SLPs lack the tools they need to perform a comprehensive evaluation of the users’ capacities. They lack procedures for involving parents in the evaluation and for obtaining a thorough description of their child’s communication needs. This might result in attribution of SGSs and identification of vocabulary that do not meet the user’s needs. Some of the SLPs lack sufficient knowledge and do not have SGDs available for trials with their clients, resulting in a less-than-perfect matches between the users and the SGDs. Lack of professional resources leaves parents without support to make changes needed in times of transition in their child’s life. Parents may be unable to support their child’s use of SGD in a variety of contexts. An attribution and AAC intervention model is proposed in order to improve AAC intervention and SLP’s practices.

Introduction: The study ‘Mental healthcare provision for adults with intellectual disability and a mental disorder’ (MEMENTA) is a cross-sectional epidemiological study carried out in three different regions of Germany. Its main aim is to assess the prevalence of mental disorders in adults with intellectual disability (ID) as well as quality of mental healthcare for this population. Methods and analysis: The target population are persons aged between 18 and 65 years with a mild or moderate ID. The study population will be recruited through service providers. A representative sample is realised by two-stage sampling. First, institutions providing services for people with ID (sheltered workshops) are selected in a stratified cluster sampling, with strata being (1) types of service-providing non-governmental organisations and (2) sizes of their sheltered workshops. Then persons working in selected sheltered workshops are selected by simple random sampling. An estimated number of 600 adults with ID will be included. Information will be obtained from the group leaders in the sheltered workshops, informal carers or staff members in sheltered housing institutions and the person with ID. Besides the main outcome parameter of psychiatric symptomatology and problem behaviour, other outcome parameters such as needs for care, quality of life, caregiver burden, health services utilisation and costs for care are assessed using well-established standardised instruments. If a comorbid mental disorder is diagnosed, quality of mental healthcare will be assessed with open questions to all interview partners and, in addition, problem-focused interviews with a small subgroup. Analyses will be carried out using quantitative and qualitative methods. Ethics and dissemination: Approval of all three local ethics committees was obtained. Research findings will add much needed empirical information in order to improve services provided to this vulnerable group of patients.

The aim of the study was to determine whether a modified version of the Six-Minute Walk Test (6MWT) (American Thoracic Society, 2002) could be used to assess aerobic power in adults with intellectual disability. Thirteen adults (7M, 6F), four with Down syndrome; 18-44 years old, with mild or moderate intellectual disability participated in the study. Each participant performed the following: (1) the modified 6MWT twice, with a pacer, along a straight 30-m course in a gymnasium; (2) the graded maximal treadmill test; and (3) a test of leg strength, twice, using a Cybex dynamometer. Cronbach’s reliability coefficient between the two 6MWTs was α = 0.98. Stepwise linear regression analysis showed that the furthest 6MWT distance was predictive of peak oxygen consumption (R² = 0.67). Peak torque during leg extension and BMI were significantly correlated with 6MWT distance. The modified 6MWT can be used with minimal time and space, to assess aerobic power in adults with ID.

Dans ce mémoire, je cherche à déterminer pourquoi les animaux non humains ne sont pas considérés comme étant autonomes dans les théories libérales contemporaines. Pour ce faire, j’analyse deux conceptions traditionnelles de l’autonomie, soit l’autonomie en tant qu’agentivité morale et l’autonomie hiérarchique (en tant que capacité à agir selon ses désirs de second ordre), et je soutiens que ces deux conceptions ne réussissent pas à bien justifier le respect des choix personnels même chez les agents humains. J’avance que ces deux conceptions de l’autonomie mènent à des conclusions perfectionnistes et paternalistes à certains égards, ce qui est pourtant contraire à leur fonction. J’analyse ensuite quelques versions alternatives de l’autonomie qui ne reposent pas sur la possession de facultés morales ou rationnelles, avant de proposer une nouvelle conception de l’autonomie qui pourrait répondre aux problèmes soulevés et potentiellement reconnaître l’autonomie des animaux non humains. / In this M.A. research, I try to understand why nonhuman animals are not considered autonomous in the contemporary liberal theories. To do this, I analyze two main conceptions of autonomy, autonomy as moral agency and hierarchical autonomy (as the capacity to act according to second-order desires), and I argue that these conceptions both fail to justify the respect of personal choices even for human agents. I suggest that these two conceptions of autonomy lead to perfectionist and paternalist conclusions, although this is inconsistent with their function. I then review a few alternative versions of autonomy that do not rely on possessing moral or rational faculties, before sketching a new conception of autonomy that could answer the different issues raised during this research and potentially recognize the autonomy of nonhuman animals.

No description available.

Abstract The aim of this study is to contribute knowledge of guardian´s experience of having a child in compulsory- and upper secondary school for learning disabilities. Research questions: How do guardians describe their lived experience of the phenomenon of having a child placed in the compulsory- and upper secondary school for learning disabilities? How do guardians describe the relationship between home and school? Research indicates a multifaceted complexity characterized by high level of stress among guardians of children diagnosed with intellectual disabilities (ID). Attitudes from the society in whole towards people with ID have a major impact. My study has a phenomenologically inspired approach, that aims to access and understand the phenomenon by addressing the source, the guardians. I have interviewed three guardians and learned stories from their existential worlds. They show faith in school, but also anxiety from complex situations that they are faced with. It is important that teachers in schools for pupils with ID are aware of these feelings when meeting the guardians, since they are important to build good cooperative relationships between school and home. Successfulness is based on good relationships and for this to occur, an understanding of the situations of the guardians is required. Keywords cumpulsory school for learning disabilities, upper secondary school for learning disabilities, guardians, phenomenology, lived experience, relationship between home and school, intellectual disability, ID. / Sammanfattning Syftet med detta examensarbete är att bidra med kunskap om vårdnadshavares levda erfarenhet av att ha ett barn i grundsärskolan och gymnasiesärskolan. Forskningsfrågor: Hur beskriver vårdnadshavare sin levda erfarenhet av fenomenet att ha sitt barn placerat i grundsärskolan och gymnasiesärskolan? Hur beskriver vårdnadshavare relationen mellan hem och skola? Forskning visar på en mångfasetterad komplexitet som kännetecknas av en hög stressnivå hos vårdnadshavare till barn med intellektuell funktionsnedsättning (IF). Omgivningens inställning till personer med IF har stor påverkan. Min studie har en fenomenologiskt inspirerad ansats vilket syftar till att förstå fenomenet genom att gå till källan, vårdnadshavarna. Jag har intervjuat tre vårdnadshavare och tagit del av berättelser från deras livsvärldar. I deras berättelser visar sig en tillit till skolan men också starka känslor i form av oro, frustration och komplexa situationer att förhålla sig till. Detta tolkar jag som en form av stress. Dessa känslor och erfarenheter behöver speciallärare i grundsärskolan och gymnasiesärskolan vara medvetna om i mötet med vårdnadshavare. Dessa möten är en viktig komponent som bygger samarbetet mellan hem och skola. Ett bra samarbete grundar sig i goda relationer och för att dessa ska uppstå krävs en förståelse för vårdnadshavarens situation. Nyckelord Grundsärskola, gymnasiesärskola, vårdnadshavare, fenomenologi, levda erfarenheter, relation mellan hem och skola, intellektuell funktionsnedsättning, IF.

Då behovet av specialpedagogisk kompetens ökar ute i skolorna, krävs det att speciallärarutbildningarna uppfyller en viss kvalitet angående yrkesutbildningen och dess profession. Syftet med denna studie var att undersöka hur speciallärarstudenter med inriktning utvecklingsstörning upplever utbildningens innehåll, praktiskt genomförande och villkoren för det egna lärandet i spänningsfältet mellan akademisk påbyggnadsutbildning och professionell yrkesutövning. Detta är en kvalitativ studie som bygger på intervjuer med sju speciallärarstudenter, inriktning utvecklingsstörning. Det insamlade empiriska materialet har bearbetats utifrån tematisk analys. Tre teman framkom och blev fokus för vårt resultat: “Speciallärarutbildningens teoretiska inslag”; “Speciallärarutbildningen och studenternas yrkespraktik” samt “Gapet mellan utbildningsbaserade kunskaper och skolorganisationens förändringsbenägenhet”. Genom denna studie har vi konstaterat att de intervjuade speciallärarstudenterna upplever en stor diskrepans mellan vad som lärs ut i utbildningen och deras yrkespraktik. Vidare framkom önskemål och idéer om hur utbildningen borde justeras för att möta behoven som speciallärare, inriktning utvecklingsstörning väntas hantera och tillgodose i yrkeslivet. Denna studie är en del av en forskningsansökan till Vetenskapsrådet av Höstfält, G., Falkner, K. (2018, april), "The (re)emergence of a profession: Swedish special needs teachers in the field of tension of the day-to-day work and graduate education.". / As the need for special education skills increases in schools, special education courses need to meet a certain quality of academic standards and professional needs. The purpose of this study was to investigate how special needs teacher students, focusing on working with children with intellectual disability, experience the content and carrying out of the education, as well as the conditions for the student’s own learning at the intersection between academic education and occupational practice as a special teacher in schools.  This is a qualitative study, based on interviews with seven special needs teacher students, focusing on working with children with intellectual disability. The empirical data has been processed from the point of view of thematic analysis where three themes emerged and became the focus of our result: "Theorization of special education"; "Special Education and Student Occupational Practice" and "The gap between education-based knowledge and the lack of schools’ ability to change". Through this study, we have found that the interviewed students experience a major discrepancy between what is learned through education and their practical work experiences. Furthermore, the interviewed students presented ideas and suggestions for how the education should be adjusted to meet the needs special teachers, focusing on working with children with intellectual disability, are expected to deal with and fulfill in their profession.  The present study is a part of an application to Swedish Research Council, prepared by Höstfält, G., Falkner, K. (2018, April), "The (re)emergence of a profession: Swedish special needs teachers in the field of tension of the day-to-day work and graduate education.".