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Introduction: Postural control and locomotion deficits can be observed during the early years of childhood development and throughout life. For those with disabilities, these deficits can advance past the development years and into adolescence and adulthood while affecting the quality of life and daily activity. Finding interactive rehabilitative activities to delay or limit these deficits is essential for people with disabilities to improve their quality of life, inclusion, and overall movement. Adapted physical activity/sports like badminton and virtual reality could promote improvements in postural and locomotor status for young adults with intellectual and developmental disabilities like cerebral palsy (CP), intellectual disability (ID), and autism spectrum disorder (ASD). Purpose: These studies aim to assess the postural and locator status of young adults with intellectual and developmental disabilities after participating in a 12-week badminton and intensive virtual reality programs. Methods: Study A will follow a multiple baseline approach to access postural control, locomotion, and areas of physical fitness in young adults with IDD utilizing the immersive virtual reality game Fruit Ninja™ while study B will follow and repeated measures design accessing static postural control for students in a comprehensive transition program for intellectual disabilities at a southeastern university.

The purpose of this study was to determine what language and behavior changes occur when parents are included in a curriculum that provides intervention for children with language delays and behavior and social delays. This project was a collaborative effort between the Early Intervention Special Education Program for three-five year old children in the school distrtict, and the County of Riverside, Department of Mental Health Services.

The purpose of this project was to develop aids and strategies for identifying and assisting adult students with learning disabilities. Using the Diagnostic and Statistical Manual of the American Psychiatric Association (DSM-IV 1994). The project addresses specific descriptions for identifying traits, behaviors, and characteristics in the recognition of: dyslexia; color blindness, tic disorders, Tourette's syndrome, scotopic sensitivity syndrome, behavior disorders, attention deficit disorder (ADD), attention deficit/hyperactivity disorder (ADHD), aphasic disorders, and autistic disorders.

The purpose of this project was to develop aids and strategies for identifying and assisting adult students with learning disabilities. Using the Diagnostic and Statistical Manual of the American Psychiatric Association (DSM-IV 1994). The project addresses specific descriptions for identifying traits, behaviors, and characteristics in the recognition of: dyslexia; color blindness, tic disorders, Tourette's syndrome, scotopic sensitivity syndrome, behavior disorders, attention deficit disorder (ADD), attention deficit/hyperactivity disorder (ADHD), aphasic disorders, and autistic disorders.

Thesis (MPhil(Rehabilitation))--Stellenbosch University, 2013. / ENGLISH ABSTRACT: Having a child with neurodevelopmental disabilities has a significant impact on the well-being of parents, including experiencing distress and enduring emotional, financial and physical pressure, due to caring for their. They require formal and informal support systems. Formal support includes counselling services. The purpose of the study was to determine what role psychosocial counselling at Tygerberg Academic Hospital (TAH) plays in the lives of parents of children with neurodevelopmental disabilities. A descriptive, qualitative approach was followed using semi-structured interviews that focused on the participants’ experiences and perceptions regarding their psychosocial needs and counselling. Eleven parents participated in the study. They were sampled purposively. Emerging themes were identified through content analysis of interviews. The themes identified were: - Emotions; - Parents’ life and relationships; - Lack of support systems to deal with the pressure of care giving; - Social workers; - Challenges with regard to compliance with healthcare provision; and - Gaps identified. The interviews found that parents received no psychosocial counselling at TAH. This was a disappointment to participants. They indicated feeling very isolated and emotional, and experiencing psychological burnout, while such social work services provided focussed on applications for social grants and patient healthcare treatment. Parents identified a great need for counselling services at the hospital as they believed counselling would assist them to work through emotions, address psychosocial needs, find coping strategies and identify available resources within their communities, which would be beneficial to the psychosocial functioning of the whole family. The parents also identified a need for parent support group services at the hospital. The initiation of this service and support groups for parents is recommended. / AFRIKAANSE OPSOMMING: Om 'n kind met neuro-ontwikkelingsgestremdhede te hê, het 'n beduidende impak op die welstand van ouers, insluitend spanning en verduur van emosionele, finansiele en fisieke druk, as gevolg van die versorging van die kind. Hulle benodig formele en informele ondersteuningsnetwerke. Formele ondersteuning sluit beradingsdienste in. Die doel van hierdie studie was om te bepaal wat die rol is van psigososiale berading by die Tygerberg Akademiese Hospitaal in die lewens van ouers van kinders met neuro-ontwikkelingsgestremdhede. 'n Beskrywende, kwalitatiewe benadering is gevolg deur gebruik te maak van semi-gestruktureerde onderhoude wat fokus op die deelnemers se ervarings en persepsies ten opsigte van psigososiale behoeftes en berading. Elf ouers het aan die studie deelgeneem. Die deelnemers was doelgerig geselekteer. Temas is geïndentifiseer deur die inhoud van die onderhoude te analiseer. Die temas was as volg: Emosies; - Ouers se lewens en verhoudings; - Tekort aan ondersteuningstrukture om die druk van versorging te hanteer; - Maatskaplike werkers; - Uitdagings met betrekking tot nakoming met gesondheidsorgvoorsiening en - Identifisering van gapings. Die onderhoude het bevestig dat ouers geen psigososiale berading by Tygerberg Akademiese Hospitaal ontvang nie. Dit was teleurstellend aan die deelnemers. Hulle is geneig om geïsoleerd en emosioneel te voel en beleef ook psigiese uitbranding, terwyl maatskaplikewerk dienste hoofsaaklik fokus op toelaagaansoeke en die pasiëntgesondheidsorgbehandeling. Ouers het 'n groot behoefte aan beradingsdienste by die Tygerberg Akademiese Hospitaal geïdentifiseer, omdat hulle glo dat berading hulle sal help om deur emosies en psigososiale behoeftes te aan te spreek, baasraakstrategieë te vind en beskikbare hulpbronne binne hul gemeenskappe wat voordelig sal wees vir die psigososiale funksionering van die gesin te identifiseer. Die ouers het ook 'n behoefte vir ouerondersteuningsgroepdienste by die hospitaal geïdentifiseer. Die inisiasie van beradingsdienste en ouerondersteuningsgroepdienste word aanbeveel.

Objetivo: Investigar a relação entre qualidade de vida e dificuldades na comunicação relatadas pelos familiares de crianças com diagnóstico inserido nos Distúrbios do Espectro do Autismo (DEA) em comparação com os familiares de crianças com outros Distúrbios do Desenvolvimento. Métodos: Participaram do estudo 100 familiares de crianças com Distúrbios do Desenvolvimento. Responderam ao Questionário de Levantamento de Dificuldades Comunicativas de Pais de Crianças do Espectro do Autismo, ao Perfil Funcional da Comunicação - Checklist e ao o Questionário World Health Organization Quality of Life - Bref. Resultados: Familiares de crianças com Distúrbio do Espectro do autismo não apresentam qualidade de vida diminuída em relação aos pais de crianças com outros distúrbios do desenvolvimento, porém as dificuldades na qualidade de vida descrita pelos familiares parecem estar relacionadas com questões de impressão quanto a eles próprios e com questões da impressão das outras pessoas em relação às suas crianças.Essas crianças também apresentaram maior uso dos meios comunicativos e de atos comunicativos mais interpessoais. Discussão: Apesar do maior uso dos meios comunicativos e dos atos comunicativos mais interpessoais por parte das crianças DEA, os pais ainda relatam as maiores dificuldades no questionário de dificuldade comunicação. Isso pode acontecer porque o questionário abrange não só questões de dificuldade de comunicação, mas também questões quanto ao comportamento e da interação da criança com os familiares e outras pessoas. Conclusão: Existem reflexos específicos dos DEA em suas famílias, que parecem não estar associadas ao perfil funcional da comunicação / Purpose: Investigate the relations between life quality and communication difficulties reported by parents of children diagnosed with Autism Spectrum Disorders in comparison with the families of children with other Developmental Disorders. Methods: The study included 100 parents of children with Developmental Disorders. They Responded to the Questionnaire of Communicative Difficulties to Parents of Children with Autism Spectrum, the Functional Communication Profile - Checklist and Questionnaire of the World Health Organization Quality of Life - Bref. Results: Families of children with autism spectrum disorder do not present decreased life quality compared to parents of children with other developmental disorders, but the difficulties in the quality of life described by family members appear to be related to printing issues for themselves to and issues with printing from other people regarding their children. These children also showed greater use of communication means and more interpersonal communicative acts. Discussion: Despite the increased use of communication means and more interpersonal communicative acts by children with autism, parents still claim having the biggest difficulties in the communication difficulties questionnaire. This can happen because the survey covers not only issues of communication difficulty, but also questions about the behavior and interaction of the child with family members and others. Conclusion: There are specific consequences of Autism in their families but it is not associated with functional communication profile

A variação no número de cópias gênicas (CNVs) é a alteração estrutural mais prevalente no genoma humano. Estas alterações estão presentes em alta proporção nos subtelômeros, quando comparados com o resto do genoma. Isso ocorre principalmente porque essas regiões são ricas em genes e porque apresentam sequências repetitivas que as tornam suscetíveis a rearranjos genômicos. Na literatura os rearranjos subteloméricos, como deleções, duplicações e translocações estão associados à etiologia da deficiência intelectual (DI), do atraso no desenvolvimento neuropsicomotor (ADNPM) e das malformações congênitas (MC). Estudos prévios com pacientes com DI revelaram taxas de CNVs patogênicas em regiões subteloméricas variando de 2,4% a 4,8%. Os objetivos desse trabalho foram: investigar a presença das CNVs subteloméricas nos pacientes portadores de malformações congênitas e deficiência intelectual, caracteriza-las quanto a extensão e patogenicidade e sugerir os mecanismos produtores dessas alterações. Foram analisadas 105 amostras de DNA de pacientes com DI/ADNPM associada a MC. Utilizamos a técnica de MLPA (Multiplex Ligation-dependent Probe Amplification) com kits específicos para regiões subteloméricas (P036 e P070). Dentre os pacientes que apresentaram alterações pela técnica de MLPA, 7 pacientes foram submetidos à técnica de array, utilizando as plataformas Agilent SurePrint G3 Genoma Humano microarray 180 K e HumanCytoSNP-12 BeadChip Illumina®. O MLPA permitiu identificar alterações subteloméricas em 14,28% dos casos, sendo 7 pacientes com uma deleção isolada, 7 pacientes apresentaram uma deleção concomitante a uma duplicação e um paciente apresentou duas duplicações. A análise por array confirmou as alterações encontradas por MLPA e permitiu a delimitação acurada dos pontos de quebra genômicos. A análise combinada utilizando bioinformática com diferentes ferramentas: DGV (Database of Genomic Variants), DECIPHER (Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources), UCSC Genome Bioinformatics e DAVID (Database for Annotation, Visualization and Integrated Discovery), revelou um total de 8 genes sugestivos de serem responsáveis por fenótipos clínicos distintos. Dentre eles, o gene DIAPH1 foi relacionado à microcefalia, o gene CTNND2 à DI e o gene OTOS à surdez. O array revelou elementos repetitivos, sequências teloméricas e/ou STRs nas regiões próximas aos pontos de quebra estudados. Também nos permitiu inferir que os pontos de quebra com deleção simples são sugestivos de NHEJ ou MMEJ e os casos que apresentaram rearranjos complexos: FoSTeS ou MMBIR. A estratégia teve sucesso em identificar CNVs subteloméricas e associá-las ao fenótipo dos pacientes e, adicionalmente, possibilitou a sugestão dos mecanismos que as produziram / Copy number variation (CNV) is the most prevalent structural changes in the human genome. These changes are present in a high rate in subtelomere compared with the rest of the genome. This is primarily because these regions are gene rich and because of the presence of repetitive sequences that make them susceptible to genomic rearrangements. Subtelomeric rearrangements, such as deletions, duplications and translocations are associated with the etiology of intellectual disability (ID), the developmental delay (DD) and congenital malformations (CM). Previous studies with patients with ID have revealed rates of pathogenic CNVs in subtelomeric regions ranging from 2.4% to 4.8%. The objectives of this study were to investigate the presence of subtelomeric CNVs in patients with congenital malformations and intellectual disability, characterized them as the extent and pathogenicity and suggest mechanisms of formation. DNA samples from 105 patients with ID/DD associated with CM were analysed. We use the MLPA (Multiplex Ligationdependent Probe Amplification) technique with specific subtelomeric regions (P036 and P070) kits. Among patients with CNVs changes by MLPA, seven were submitted to array technique, using Agilent SurePrint G3 Human Genome microarray HumanCytoSNP or 180 K-12 BeadChip Illumina® platforms. The subtelomeric MLPA analysis identified alterations in 14.28% of cases, 7 patients presented an isolated deletion, 7 patients presented a concomitant deletion and duplication and 1 patient presented two duplications. The array analysis confirmed the alterations found by MLPA and allowed the accurate delineation of the genomic break points. The analysis combined with bioinformatics using different tools: DGV (Database of Genomic Variants), Decipher (Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources), UCSC Genome Bioinformatics and DAVID (Database for Annotation, Visualization and Integrated Discovery), revealed a total of eight genes that are suggestible responsible for distinct clinical phenotypes. Among them, DIAPH1 gene was related to microcephaly, CTNND2 gene to ID and OTOS gene to deafness. Array revealed repetitive elements, telomeric sequences and / or STR close to breakpoints regions. We propose that the breakpoints with single deletions are suggestive of NHEJ or MMEJ and cases with complex rearrangements: FoSTeS or MMBIR. This strategy could identify subtelomeric CNVs, improve the genotype-phenotype association and also allowed the investigation of mechanisms for formation

Objetivo: Investigar a relação entre qualidade de vida e dificuldades na comunicação relatadas pelos familiares de crianças com diagnóstico inserido nos Distúrbios do Espectro do Autismo (DEA) em comparação com os familiares de crianças com outros Distúrbios do Desenvolvimento. Métodos: Participaram do estudo 100 familiares de crianças com Distúrbios do Desenvolvimento. Responderam ao Questionário de Levantamento de Dificuldades Comunicativas de Pais de Crianças do Espectro do Autismo, ao Perfil Funcional da Comunicação - Checklist e ao o Questionário World Health Organization Quality of Life - Bref. Resultados: Familiares de crianças com Distúrbio do Espectro do autismo não apresentam qualidade de vida diminuída em relação aos pais de crianças com outros distúrbios do desenvolvimento, porém as dificuldades na qualidade de vida descrita pelos familiares parecem estar relacionadas com questões de impressão quanto a eles próprios e com questões da impressão das outras pessoas em relação às suas crianças.Essas crianças também apresentaram maior uso dos meios comunicativos e de atos comunicativos mais interpessoais. Discussão: Apesar do maior uso dos meios comunicativos e dos atos comunicativos mais interpessoais por parte das crianças DEA, os pais ainda relatam as maiores dificuldades no questionário de dificuldade comunicação. Isso pode acontecer porque o questionário abrange não só questões de dificuldade de comunicação, mas também questões quanto ao comportamento e da interação da criança com os familiares e outras pessoas. Conclusão: Existem reflexos específicos dos DEA em suas famílias, que parecem não estar associadas ao perfil funcional da comunicação / Purpose: Investigate the relations between life quality and communication difficulties reported by parents of children diagnosed with Autism Spectrum Disorders in comparison with the families of children with other Developmental Disorders. Methods: The study included 100 parents of children with Developmental Disorders. They Responded to the Questionnaire of Communicative Difficulties to Parents of Children with Autism Spectrum, the Functional Communication Profile - Checklist and Questionnaire of the World Health Organization Quality of Life - Bref. Results: Families of children with autism spectrum disorder do not present decreased life quality compared to parents of children with other developmental disorders, but the difficulties in the quality of life described by family members appear to be related to printing issues for themselves to and issues with printing from other people regarding their children. These children also showed greater use of communication means and more interpersonal communicative acts. Discussion: Despite the increased use of communication means and more interpersonal communicative acts by children with autism, parents still claim having the biggest difficulties in the communication difficulties questionnaire. This can happen because the survey covers not only issues of communication difficulty, but also questions about the behavior and interaction of the child with family members and others. Conclusion: There are specific consequences of Autism in their families but it is not associated with functional communication profile

A variação no número de cópias gênicas (CNVs) é a alteração estrutural mais prevalente no genoma humano. Estas alterações estão presentes em alta proporção nos subtelômeros, quando comparados com o resto do genoma. Isso ocorre principalmente porque essas regiões são ricas em genes e porque apresentam sequências repetitivas que as tornam suscetíveis a rearranjos genômicos. Na literatura os rearranjos subteloméricos, como deleções, duplicações e translocações estão associados à etiologia da deficiência intelectual (DI), do atraso no desenvolvimento neuropsicomotor (ADNPM) e das malformações congênitas (MC). Estudos prévios com pacientes com DI revelaram taxas de CNVs patogênicas em regiões subteloméricas variando de 2,4% a 4,8%. Os objetivos desse trabalho foram: investigar a presença das CNVs subteloméricas nos pacientes portadores de malformações congênitas e deficiência intelectual, caracteriza-las quanto a extensão e patogenicidade e sugerir os mecanismos produtores dessas alterações. Foram analisadas 105 amostras de DNA de pacientes com DI/ADNPM associada a MC. Utilizamos a técnica de MLPA (Multiplex Ligation-dependent Probe Amplification) com kits específicos para regiões subteloméricas (P036 e P070). Dentre os pacientes que apresentaram alterações pela técnica de MLPA, 7 pacientes foram submetidos à técnica de array, utilizando as plataformas Agilent SurePrint G3 Genoma Humano microarray 180 K e HumanCytoSNP-12 BeadChip Illumina®. O MLPA permitiu identificar alterações subteloméricas em 14,28% dos casos, sendo 7 pacientes com uma deleção isolada, 7 pacientes apresentaram uma deleção concomitante a uma duplicação e um paciente apresentou duas duplicações. A análise por array confirmou as alterações encontradas por MLPA e permitiu a delimitação acurada dos pontos de quebra genômicos. A análise combinada utilizando bioinformática com diferentes ferramentas: DGV (Database of Genomic Variants), DECIPHER (Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources), UCSC Genome Bioinformatics e DAVID (Database for Annotation, Visualization and Integrated Discovery), revelou um total de 8 genes sugestivos de serem responsáveis por fenótipos clínicos distintos. Dentre eles, o gene DIAPH1 foi relacionado à microcefalia, o gene CTNND2 à DI e o gene OTOS à surdez. O array revelou elementos repetitivos, sequências teloméricas e/ou STRs nas regiões próximas aos pontos de quebra estudados. Também nos permitiu inferir que os pontos de quebra com deleção simples são sugestivos de NHEJ ou MMEJ e os casos que apresentaram rearranjos complexos: FoSTeS ou MMBIR. A estratégia teve sucesso em identificar CNVs subteloméricas e associá-las ao fenótipo dos pacientes e, adicionalmente, possibilitou a sugestão dos mecanismos que as produziram / Copy number variation (CNV) is the most prevalent structural changes in the human genome. These changes are present in a high rate in subtelomere compared with the rest of the genome. This is primarily because these regions are gene rich and because of the presence of repetitive sequences that make them susceptible to genomic rearrangements. Subtelomeric rearrangements, such as deletions, duplications and translocations are associated with the etiology of intellectual disability (ID), the developmental delay (DD) and congenital malformations (CM). Previous studies with patients with ID have revealed rates of pathogenic CNVs in subtelomeric regions ranging from 2.4% to 4.8%. The objectives of this study were to investigate the presence of subtelomeric CNVs in patients with congenital malformations and intellectual disability, characterized them as the extent and pathogenicity and suggest mechanisms of formation. DNA samples from 105 patients with ID/DD associated with CM were analysed. We use the MLPA (Multiplex Ligationdependent Probe Amplification) technique with specific subtelomeric regions (P036 and P070) kits. Among patients with CNVs changes by MLPA, seven were submitted to array technique, using Agilent SurePrint G3 Human Genome microarray HumanCytoSNP or 180 K-12 BeadChip Illumina® platforms. The subtelomeric MLPA analysis identified alterations in 14.28% of cases, 7 patients presented an isolated deletion, 7 patients presented a concomitant deletion and duplication and 1 patient presented two duplications. The array analysis confirmed the alterations found by MLPA and allowed the accurate delineation of the genomic break points. The analysis combined with bioinformatics using different tools: DGV (Database of Genomic Variants), Decipher (Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources), UCSC Genome Bioinformatics and DAVID (Database for Annotation, Visualization and Integrated Discovery), revealed a total of eight genes that are suggestible responsible for distinct clinical phenotypes. Among them, DIAPH1 gene was related to microcephaly, CTNND2 gene to ID and OTOS gene to deafness. Array revealed repetitive elements, telomeric sequences and / or STR close to breakpoints regions. We propose that the breakpoints with single deletions are suggestive of NHEJ or MMEJ and cases with complex rearrangements: FoSTeS or MMBIR. This strategy could identify subtelomeric CNVs, improve the genotype-phenotype association and also allowed the investigation of mechanisms for formation