Šiandieninėje visuomenėje yra publikuojama, kad reguliarus fizinis aktyvumas – vienas svarbiausių dalykų, stiprinančių sveikatą bei palaikančių fizinį pajėgumą, mažina stresą, gerina nuotaiką, bei savijautą tiek įgaliems žmonėms, tiek turintiems negalią. Vienas iš gerų fizinio aktyvumo aspektų yra šokio terapija. Tačiau tyrimai nagrinėjantys šokio terapijos poveikį sutrikusio intelekto asmenims egzistuoja tik užsienio šalyse. Todėl ieškant mokslinių darbų, neradau nieko kad Lietuvoje būtu atliekami panašus tyrimai apie šokio terapijos poveikį sutrikusio intelekto asmenims, jų nuotaikos kaitai. Tas ir paskatino imtis šios srities tyrimo. Hipotezė- Šokio terapija gali pagerinti paauglių su sutrikusiu intelektu nuotaiką Tikslas- nustatyti šokio terapijos poveikį sutrikusio intelekto paauglių nuotaikos kaitai. Uždaviniai: 1 Nustatyti sutrikusio intelekto paauglių nuotaiką prieš šokio terapiją. 2.Nustatyti sutrikusio intelekto paauglių nuotaiką po šokio terapijos. 3.Palyginti sutrikusio intelekto paauglių nuotaikos kaitą prieš ir po šokio terapijos. Tyrimo objektas- sutrikusio intelekto paauglių nuotaikos kaita. Išvados: Tyrimo rezultatai parodė, kad daugumai tiriamųjų paauglių prieš šokio terapiją nuotaika buvo bloga, jie jautėsi pikti, irzlūs, nepatenkinti. Po šokių terapijos užsiėmimo, daugumai tirtų paauglių, nuotaika buvo žymiai geresnė, jie jautėsi laimingesni, daugiau šypsojosi, draugiškai bendravo su kitais... [toliau žr. visą tekstą] / The importance is recognized in society. A lot of researchers concluded that regular physical activity is one of the most important things which is promoting health and supporting the physical capacity, reduces stress, improves mood, and well-being for people without disability and people with disability. One of the best examples of successful implementation of physical activity is a dance therapy. However a lot of researchers exploring the effects of dance therapy with intellectual disabilities exists only in foreign countries. Therefore, there is the lack number of investigations in this field in Lithuania. There is important to carry out research about an effect of dance therapy on mood changes of people with intellectual disabilities. Because of that the hypothesis was formulated. Hypothesis- Dance therapy can enhance teenagers’ with intellectual disabilities mood. The main aim - To evaluate an effect of dance therapy for teenagers with intellectual disability moods change. The goals of the research were: 1. To establish the teenagers with intellectual disability mood before of dance therapy 2. To establish the teenagers with intellectual disability mood after of dance therapy 3. Compare the teenagers with intellectual disability mood before and after dance therapy. Conclusions of the study: The results showed that most of the subjects were in a bad mood, they felt angry, irritable and unhappy before dance therapy. After dance therapy most of the subjects felt much... [to full text]

The purpose of this study is to investigate some teachers in special school´s perceptions of the meeting of compulsory school and special school. In this study, ethnocentrism is used as a theoretical framework, the theory which is built on the meeting between groups and how they interact. The study has a phenomenographic onset, which is a qualitative method. The gathering of data was made through interviews, one to one. Five interviews were made and analyzed by the use of phenomenographic analysis. Five categories were identified: Inclusion, commitment and interest, knowledge about special school, to be forgotten, and differences in cognitive approach. In the sample space the underlying structures was discussed by ethnocentrism, as well as previous literature and research. Some common points of contact between ethnocentrism and previous research on the meeting could be found. What the study also found was that four out of five respondents felt a sense of belonging in school, while one felt that the Special school was excluded from the regular school. The respondents could all agree on the fact that several factors affected the meeting. These five categories could be seen as areas of improvement in schools that want to work in an inclusive manner. These factors were also lifted in previous research on special school and inclusion.

The change in R-R intervals between adjacent heartbeats is referred to as Heart Rate Variability (HRV). HRV data provides information regarding an individual’s Autonomic Nervous System (ANS), specifically the ANS’s two branches, the Sympathetic Nervous System (SNS) and the Parasympathetic Nervous System (PNS). The HRV of a healthy, well-conditioned heart is large at rest, while low HRV is associated with adverse health outcomes such diabetes, heart disease and early mortality. There has been a substantial amount of HRV research conducted with typically developing individuals. One group who is greatly underrepresented in research is individuals with intellectual disabilities. Currently, no studies have been undertaken with Special Olympics athletes. Therefore, the purpose of this study was to create HRV profiles at rest, during submaximal exercise, and at recovery of adult Special Olympic athletes. The study also sought to examine the impact that Down syndrome, age, sex, and medication on HRV profiles. The current study found that although heart rate responded appropriately during the three testing conditions (rest, exercise, recovery) the athletes were sympathetically dominated across all three conditions, indicating an imbalance between the SNS and the PNS. In addition, male and female athletes were significantly different with regards to low frequency and high frequency power. It is possible that anxiety or excitement about the testing influenced some athletes, and future research should examine how additional protocol familiarization could impact the HRV profiles within this population. Additionally, more research with larger sample sizes is needed to more fully understand the impact that age, etiology of intellectual disability, and medication use may be having on HRV profiles. / Graduate

The purpose of this study was to understand the decision-making process used by IEP teams and case managers for students with significant intellectual disabilities who participate in alternate assessments based on aligned academic achievement standards (AA-AAS). Semi-structured in-depth interviews were conducted with case managers for students participating in the Virginia Alternate Assessment Program (VAAP) from school divisions in central Virginia. Traditional inductive data analysis techniques were used to analyze data collected from the in-depth interviews, the researcher’s reflexive field notes and observations, and a review of VAAP training and guidance documents provided by study participants. Findings illuminated the decision-making process of finding students with significant intellectual disabilities eligible to participate in the VAAP and resulted in a visual representation of the decision-making process.

The general intention of recent Swedish legislation concerning adults with intellectual disabilities has been to provide care and support for this group in small settings in the community. It has been shown that adults with intellectual disabilities are better equipped to exert influence over their own care and support when living in group homes in the community and other forms of independent living as opposed to large institutional settings. Recent research on this group has to a great extent concerned the study of how life is in small group homes for this group and has highlighted obstacles preventing them from participating in society. Previous research has indicated that living in institutional settings makes it difficult for them to exert influence on their lives. A small number of large institutional care settings still exist, however, in Sweden and there is a dearth of research that focuses on how adults with intellectual disabilities experience everyday life in such settings. In addition, little research has been carried out on the role of the care workers who work in such settings. The aim of this research has thus been to describe the experiences of adults with intellectual disabilities and care workers of living and working in an institutional care setting in Sweden.   An ethnographic approach including participant observation and in-depth interviews was used to gain a deeper understanding of how adults with intellectual disabilities and staff experience their everyday life in an institutional care setting. The result showed that the residents experienced;  I) a sense of belonging, which was connected to having access to a private sphere and being part of social togetherness;  II) a feeling of insecurity in relation to other residents and care workers;  III) a longing for independence and a desire to get away. The study of the staff revealed three main themes that represent their approach; I) creating a family-like atmosphere; II) making the everyday life ordered and structured; III) being exposed to stress factors.   The results revealed the importance of paying close attention to what adults with intellectual disabilities and their care workers have to say about their everyday lives when living and working in an institutional care setting. It may be concluded that adults living in an institutional care setting experience their everyday lives in existential terms such as belonging, insecurity and longing. For caring science and in caring practices of people with intellectual disabilities, it is not satisfactory that residents experience such an insecure existence in a care setting. In order to provide individual care and support, staff need to be more open and vigilant as to the residents’ vulnerability and be able to guide them in matters  concerning emotional aspects. It was seen that care workers in their everyday work with residents in an institutional care setting used experiences from their personal lives in situations where they lacked formal care training. Such experiences may have helped to create meaningfulness but at the same time risked preserving inequality and gender stereotyping. In order to avoid these risks care workers should receive clear directives from the management about the care objectives, and guidelines about how best to care for adults with intellectual disabilities and offer them individualized care. Furthermore, it also became evident that care workers need additional support, training and opportunities for reflection to cope with their complex work situation. The results of this research can contribute to a greater insight and deeper knowledge of what adults with intellectual disabilities experience in an institutional care setting in the 2000’s , enabling the staff and management to further enhance the well-being for this group of individuals. The findings can provide feedback to staff, managers and researchers working in the intellectual disabilities field.   Keywords: adults with intellectual disabilities, care, care workers, ethnography, institutional care setting, Sweden

Syftet med denna studie är att utifrån några pedagogers beskrivningar bidra med kunskap om undervisning i läsförståelse för elever med intellektuell funktionsnedsättning och autismspektrumtillstånd i grundsärskolans årskurser 7-9 och på gymnasiesärskolans nationella program. Studien bygger på kvalitativa, semistrukturerade intervjuer med sex pedagoger verksamma inom grundsärskolan och gymnasiesärskolan och som undervisar i ämnet svenska. Resultaten analyseras utifrån begrepp hämtade från sociokulturell teori, nämligen fysiska och intellektuella redskap, den proximala utvecklingszonen samt scaffolding/ kommunikativa stöttor. Resultatet visar att pedagogerna ser läsförståelseförmågan som en grund för elevernas möjligheter till självständighet och delaktighet i samhället. Undervisning i läsförståelse ses som avgörande för elevernas läsförståelseutveckling. Skolans ansvar att tillgodose undervisning utifrån elevernas individuella behov och förutsättningar betonas. Organiseringen av undervisning utifrån elevernas individuella behov innebär att olika undervisningsmetoder, hjälpmedel och elevgrupperingsmetoder används. Lärarens aktiva roll, engagemang och förtrogenhet med olika metoder ses som grundläggande för framgångsrik undervisning. En gemensam uppfattning är att fortlöpande, intensiv och repetitiv undervisning ger bäst resultat. Pedagogerna i grundsärskolan och på gymnasiesärskolans individuella program uttrycker att tillgängliga tids- och personalresurser möjliggör en sådan undervisning, medan pedagogerna på gymnasiesärskolans nationella program menar att den schemalagda undervisningen i svenska är otillräcklig för att tillgodose fortlöpande undervisning. Baserat på det beskrivna behovet av fortlöpande, intensiv och repetitiv undervisning i läsförståelse, diskuteras i resultatdiskussionen om tidsresurserna är tillräckliga i aktuella elevgrupper på gymnasiesärskolans nationella program för en hållbar läsutveckling. Om man vidhåller att god läsförståelse är en grundläggande förutsättning för fullt deltagande i det moderna svenska samhället och att syftet med utbildning är att förbereda eleverna för ett ansvarsfullt liv i samhället, så är min mening att undervisning i läsförståelse i hög grad bör prioriteras inom såväl grundsärskolan som gymnasiesärskolan. / The purpose of this study – based on the accounts of qualified teachers – is to add to our understanding of teaching reading comprehension to pupils with intellectual disabilities and autistic spectrum disorders in Compulsory Schools for children with learning impairments grades 7-9 and those undergoing the Upper Secondary School national curriculum for pupils with learning disabilities. The study builds on qualitative, semi-structured interviews with six educators, all active within either Compulsory Schools for children with learning impairments or Upper Secondary Schools for pupils with learning disabilities, and all of  them Swedish language teachers. The results are analyzed on the basis of terms used in socio-cultural theory, namely physical and intellectual tools, the proximal development zone and ‘scaffolding’ (communicative supports). Results show that teachers see the ability of children to read and understand as fundamental to their prospects of becoming free individuals able to participate in society. Teaching pupils reading comprehension is viewed as pivotal to their ability to progressively understand what they read. Emphasis is laid on the responsibility of schools to provide education based on assessing the needs of each individual child. The organization of teaching structured around pupils’ individual needs means that a range of methods, aids and pupil groups is used.  The active role and personal involvement of the teacher along with his/her familiarity with a broad range of methods is seen as fundamental to successful teaching. The prevailing view is that on-going, thorough and repetitive teaching produces the best results. Teachers in Compulsory Schools for children with learning impairments along with those in Upper Secondary Schools running individual programs for pupils with learning disabilities assert that available resources in the form of time and staff make this kind of teaching achievable, while teachers in Upper Secondary Schools running national programs maintain that timetabled lessons in Swedish are insufficient to provide progressive teaching. Based on the need for on-going and repetitive teaching in reading comprehension as described above, I discuss if the time allotted to present pupil groups in Upper Secondary Schools’ national programmes is adequate for tenable reading comprehension teaching. If we maintain that good reading comprehension is a fundamental requisite for full participation in modern Swedish society and that the goal of this education is to prepare pupils for a responsible life in society, it is my opinion that teaching in reading comprehension should be given high priority in both Compulsory Schools for children with learning impairments and Upper Secondary Schools for pupils with learning disabilities.

L’autodétermination est un droit universel qui repose sur le principe de normalisation (Nirje, 1972). Wehmeyer (1999) définit le concept d’autodétermination comme l’ensemble des habiletés et attitudes requises chez une personne, lui permettant d'agir directement sur sa vie en effectuant librement des choix non influencés par des agents externes. En accord avec ces idées, les politiques sociales de nombreux pays placent le concept d’autodétermination comme un élément central, permettant de guider toute démarche d’accompagnement des personnes en situation de handicap et notamment des personnes présentant une Déficience Intellectuelle (DI). Les recherches montrent que les personnes présentant une trisomie 21 présentent une autodétermination limitée, ainsi que des difficultés cognitives, motrices et de fonctionnement quotidien qui ne leur permettent pas de participer pleinement à leur vie et à leur communauté. Les technologies d’assistance, et en particulier les technologies de soutien à l’autodétermination, offrent des perspectives extrêmement prometteuses chez les personnes présentant une DI, notamment en ce qui concerne le développement personnel, les compétences, l'inclusion sociale ou encore la participation communautaire. Dans ce contexte, les objectifs de cette thèse sont de : 1) mieux comprendre les difficultés d’autodétermination des personnes présentant une trisomie 21 ; 2) mieux comprendre les difficultés cognitives dans cette population ; et 3) concevoir et valider deux outils numériques de soutien à l’autodétermination. Les résultats des études présentées dans cette thèse montrent que l’autorégulation est la composante de l’autodétermination perçue comme étant la plus faible par les personnes présentant une trisomie 21, alors que l’autonomie comportementale et l’autoréalisation ne sont pas perçues comme étant problématiques. Ils montrent également que le niveau d’autodétermination est lié aux compétences langagières, mnésiques ainsi qu’aux capacités motrices. De plus, ces études mettent en avant des déficits de mémoire prospective et de prise de décision chez les adultes présentant une trisomie 21, en lien également avec les difficultés d’autodétermination et d’autorégulation. Enfin, les deux assistances numériques conçues et développées ont montré leur efficacité (amélioration de la richesse du projet de vie, pour l’un, et des habiletés domiciliaires, pour l’autre). Leur utilisation prolongée a été associée à des répercussions extrêmement positives sur le bien-être psychologique, l’inquiétude, l’autodétermination et l’estime de soi. / Self-determination is a universal right based on the principle of normalization (Nirje, 1972). Wehmeyer (1999) defines the concept of self-determination as the set of skills and attitudes required for individuals to act upon their lives by making free choices that are not influenced by unwanted external agents. In line with this concept, the social policies of many countries place self-determination as a central element in support for people with disabilities, especially people with intellectual disability (ID). Research shows that people with ID have self-determination, cognitive, motor, and daily functioning difficulties that do not allow them to fully participate in their lives and their communities. Assistive technologies, and in particular self-determination support technologies, offer extremely promising perspectives for people with ID, especially with regard to personal development, skills, social inclusion or community participation. In this context, the objectives of this thesis are: 1) to better understand the difficulties of self-determination of people with Down syndrome; 2) to better understand the cognitive difficulties in this population; and 3) to design, develop and validate two digital assistants for self-determination support. The results of the studies, presented in this thesis, show that self-regulation is the component of self-determination perceived as the weakest by people with Down syndrome, while autonomy and self-realization are not perceived as problematic. Furthermore, the level of self-determination is related to language, memory and motor skills. Prospective memory and decision-making abilities are deficient in adults with Down syndrome and are also related to elf-determination and self-regulation. Finally, the two digital assistants that we have designed and developed have shown their effectiveness: improvement of ideas and elements related to the life plan and home skills. Their prolonged use of these technologies has also been associated with extremely positive impact on psychological well-being, worry, self-determination and self-esteem

One of the ways students with an intellectual disability (ID) can reach their fullest potential is by attending an institution of higher education; too few universities and colleges offer programs for these students. There are over 3,000 universities and colleges throughout the United State, yet only 272 of them offer programs for students with an ID (Think College, 2017). Within the identified programs, there is variation in location, length, goals, and methods (Grigal, Hart, & Weir, 2012). This study used an iterative classification process to first identify the programs serving students with ID located on college campuses, then analyze program websites to determine how they increase selfdetermination (SD). Phase 1 of the study used categorical sorting to identify programs that (a) served students with identified intellectual disabilities who had exited the school system; (b) were located on a college campus; (c) were run by a college; and (d) followed a college semester/quarter calendar. Phase 2 involved reviewing the websites for the programs meeting those criteria to identify self-determination activities and classes. In Phase 3 of the study, an online survey was sent to program administrators to verify and expand the description of self-determination activities. Results of this study show college programs for students with ID promote SD through instruction; however, the teaching methods vary from program to program. SD instruction is delivered by staff, peer mentors, and faculty. Programs measure SD outcomes; however, the tools used vary from program to program, and they are not applied systematically. The examination of college program practices and outcomes is central to further program development. Future research is needed to determine long-term independent living and employment outcomes of students with ID who attend college programs. / Includes bibliography. / Dissertation (Ph.D.)--Florida Atlantic University, 2017. / FAU Electronic Theses and Dissertations Collection

The prevalence of Autism Spectrum Disorder (ASD) and its defining features has been increasingly investigated in genetic syndromes associated with intellectual disability, with syndrome specific profiles reported. The experience of catatonia and other movement disorders in people with ASD has been increasing highlighted within both research and diagnostic guidelines. However, these issues have not typically been investigated alongside other features of ASD within research into genetic syndromes. The first paper in this thesis provides a review of the literature on movement disorders in genetic syndromes associated with ASD, which focuses on the prevalence of reported movement disorders, the methods of assessment used, and the quality of research to date. An empirical study is reported in Paper 2. Within a cohort of individuals with Cornelia de Lange and Fragile X syndromes the prevalence of attenuated behaviour [autistic catatonia] is examined, based on parent/carer report, and the extent to which features of ASD predict later attenuated behaviour is investigated. Paper 3 provides a critical reflection on the first two papers as well as some wider considerations on undertaking research in this area. The results of both the literature review and the empirical study indicated that across a number of genetic syndromes (Angelman syndrome, Cornelia de Lange syndrome, Fragile X syndrome and Rett syndrome) attenuated behaviour [autistic catatonia] and/or movement disorders affect a substantial proportion of individuals. Furthermore, repetitive behaviours, one of the characteristic features of ASD, appear to predict later attenuated behaviour in Cornelia de Lange and Fragile X syndromesThe results presented in this thesis have important implications for the way services support individuals with specific genetic syndromes. Paper 1 confirms the high prevalence of movement problems in Angelman and Rett syndromes, and Paper 2 provides a new insight into movement problems in Cornelia de Lange and Fragile X syndromes. Movement disorders are reported to impact negatively on wellbeing and quality of life in people with ASD, and are likely to have a similar impact on the lives of people with genetic syndromes. Greater awareness and recognition of movement problems in CdLS and FXS is required, and although specialist services may already be aware of some of the above issues, there should be an increased emphasis on ensuring that community services are aware of the needs of individuals with genetic syndromes, including the implications of movement problems for support needs and quality of life.

Submitted by Erika Demachki (erikademachki@gmail.com) on 2014-09-18T17:39:38Z No. of bitstreams: 2 merged.pdf: 2827460 bytes, checksum: 84c579b817b24021e72bdea116e8ab88 (MD5) license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5) / Approved for entry into archive by Jaqueline Silva (jtas29@gmail.com) on 2014-09-18T21:39:12Z (GMT) No. of bitstreams: 2 merged.pdf: 2827460 bytes, checksum: 84c579b817b24021e72bdea116e8ab88 (MD5) license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5) / Made available in DSpace on 2014-09-18T21:39:12Z (GMT). No. of bitstreams: 2 merged.pdf: 2827460 bytes, checksum: 84c579b817b24021e72bdea116e8ab88 (MD5) license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5) Previous issue date: 2014-03-31 / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES / Conselho Nacional de Pesquisa e Desenvolvimento Científico e Tecnológico - CNPq / Intellectual disability is a signal comprising a set of clinically and genetically heterogeneous disorders in which the development and/or function of the brain is compromised. This deficiency is characterized by significant limitations both in intellectual functioning and in adaptive behavior and is observed begins before 18 years of age. It is characterized by a high degree of variable expression, and the expression of a wide range of phenotypes, ranging from various genetic syndromes known to characteristics non-syndromic and psychological and/or psychiatric disorders. The etiology is still poorly understood and about half of the cases are unclear. In recent years, the chromosomal analysis by microarray has revolutionized the evaluation of patients with developmental delay or intellectual disability. By this method, the genome of a patient is examined to detect gains or losses of genetic material that are usually too small to be detected by chromosome banding studies. Genomic deletions and duplications have an important role in characterizing genetic diseases, including many neurological disorders and neural development. Identifying these changes may contribute to the clinical management of affected individuals and assist their families, and furthermore, can provide information on the processes of development and brain function. In this context the main objective of this study was identified possible submicroscopic genomic changes associated with intellectual disability, using a platform Chromosomal Microarray high resolution in patients referred by doctors of public health from Goiás state and had initially a normal karyotype. Thus 15 patients with intellectual disabilities were tested by high resolution HD CytoScan Array (Affymetrix) tecnology which detected the presence of 33 variations in the number of genome copies in 10 (66.7%) of the probands. Nineteen microduplications (57.6%) and 14 microdeletions (42.4%) were observed, and 17 CNVs (51.5%) were neutral, 7 (21.2%) pathogenic, 5 (15.15%) potentially pathogenic and 4 (12.12%) of uncertain significance. Five patients showed no change in the number of copies. In this study, we could propose a genetic etiology for the phenotype of 8 patients and thus the diagnostic yield of the platform used was 53.3%. Although modest, this study was significant because this technology was first employed in the state of Goiás and thus, could contribute more genetic information about this complex and heterogeneous neurological sign of great importance to global public health. / A deficiência intelectual é um sinal que compreende um conjunto de distúrbios clinica e geneticamente heterogêneos em que o desenvolvimento e/ou a função do cérebro é comprometida. Esta deficiência é caracterizada por limitações significativas tanto no funcionamento intelectual quanto no comportamento adaptativo e se inicia antes dos 18 anos de idade. É caracterizada por um elevado grau de expressividade variável, e pela manifestação de uma grande gama de fenótipos, variando de diversas síndromes genéticas conhecidas a características não sindrômicas e desordens psicológicas e/ou psiquiátricas. A etiologia ainda é mal compreendida e cerca de metade dos casos não são esclarecidos. A análise cromossômica por microarray tem revolucionado, nos últimos anos, a avaliação de pacientes com atraso no desenvolvimento ou deficiência intelectual. Por este método, o genoma de um paciente é examinado para a detecção de ganhos ou perdas de material genético que, normalmente, são muito pequeno para serem detectados por estudos cromossômicos com bandamento G. Deleções e duplicações genômicas têm um papel importante na caracterização de doenças genéticas, incluindo muitas desordens neurológicas e do desenvolvimento neural. A identificação dessas alterações pode contribuir para a manejo clínico dos indivíduos afetados e auxiliar suas famílias, e além disso, pode também fornecer informações sobre os processos do desenvolvimento e funcionamento do cérebro. Neste contexto o objetivo principal deste estudo foi identificar possíveis alterações genômicas submicroscópicas associadas à deficiência intelectual, utilizando uma plataforma de Chromosomal Microarray de alta resolução, em pacientes referenciados por médicos da rede pública de saúde do Estado de Goiás e que tenham apresentado inicialmente um cariótipo normal. Desta forma foram testados 15 pacientes com deficiência intelectual, pela tecnologia de alta resolução CytoScan HD Array (Affymetrix) que detectou a presença de 33 variações no número de cópias genômicas em 10 (66,7%) dos probandos. Foram observadas 19 microduplicações (57,6%) e 14 microdeleções (42,4%), sendo que 17 CNVs (51,5%) eram neutras, 7 (21,2 %) patogênicas, 5 (15,15%) potencialmente patogênicas e 4 (12,12%) de significado incerto. Cinco pacientes não apresentaram nenhuma alteração no número de cópias. Neste estudo foi possível propor uma etiologia genética para o fenótipo de 8 pacientes e dessa forma o rendimento diagnóstico, a título de pesquisa, da plataforma utilizada foi de 53,3%. Este estudo foi relevante já que esta tecnologia foi empregada pela primeira vez no estado de Goiás e com isso, pudemos contribuir com mais informação genética sobre esse complexo e heterogêneo sinal neurológico de grande importância para a saúde pública mundial.