112 research outputs found

    Design of a robotic toy and user interfaces for autism spectrum disorder risk assessment

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    Autism Spectrum Disorder (ASD) is an umbrella term for a spectrum of complex developmental disorders resulting in deficits in social communication and repetitive and stereotyped behaviors. According to research conducted in 2014, one in every 68 children in the United States is diagnosed with ASD. Despite this observation, there is no national screening system in Turkey, and screenings are not conducted systematically. Research in the area revealed that individuals with ASD are more interested in interact with technology (e.g. computers, iPad, robots, etc.) than human beings. This thesis includes research into how to design and use technology to create suitable products for deficits of ASD. With all of the concern over the high prevalence ratios of ASD, this thesis presents the methodology and design of a risk assessment device, which aims to capture the interest of children with ASD aged 3-4, and direct children who score low on the tests towards a diagnosis. In particular, the tests in the device focus on Theory of Mind (ToM) development and designed to detect differences with ToM tests between ASD and Typically Developing (TD) children. In the scope of the thesis, 2D illustrations, interface design, and outer shell design of the device are created in compliance with the research data in the field. Finally, outer shell design is 3D printed, and then surface is sanded and spray-painted

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    Classification of athletes with intellectual disabilities : towards the re-inclusion of athletes with intellectual disabilities in the Paralympics

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    Classification of athletes with intellectual disabilities : towards the re-inclusion of athletes with intellectual disabilities in the Paralympic

    Assessment and diagnosis of autism spectrum disorder in Latino children

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    There is an increase in the number of children who are diagnosed with autism spectrum disorder. However, significant racial and ethnic disparities exist in the diagnosis and treatment of the disorder. Based on the literature, Latino children appear to be under diagnosed or misdiagnosed with other psychological disorders rather than autism spectrum disorder. In addition, Latino children are typically diagnosed at a later age than their White peers. There is almost no research devoted to the assessment of autism spectrum disorder with young Latino children and there is insufficient research related to cultural perceptions of symptoms which can influence parental report. There is an increasing need to provide culturally appropriate Spanish language assessment to Latino children and their families. Therefore, this dissertation provides a critical review of those tests that are frequently cited in the literature or available in Spanish for use in the neuropsychological assessment of young Latino children suspected of having autism spectrum disorder within the following domains: Social Communication and Social Interaction; Speech, Language and Communication; Restricted, Repetitive Behaviors, Interests or Activities; Sensory Processing/Sensory Integration and; Developmental and Adaptive Functioning. Tests used to aid in the differential diagnosis of autism spectrum disorder and other emotional and behavioral disorders in Latino children are also included. A few select tools are recommended for use with this population to be used as a resource for those clinicians serving this population

    Autism Spectrum Disorders

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    Estimated prevalence rates of autism spectrum disorders (ASDs) have increased at an alarming rate over the past decade; current estimates stand as high as 1 in 110 persons in the population with a higher ratio of affected males to females. In addition to their emotional impact on the affected persons and their family members (in fact, the latter are often unrecognized unaffected “patients†themselves), the economic and social impacts of ASDs on society are staggering. Persons with ASDs will need interdisciplinary approaches to complex treatment and life planning, including, but not limited to, special education, speech and language therapy, vocational skills training and rehabilitation, social skills training and cognitive remediation, in addition to pharmacotherapy. The current book highlights some of the recent research on nosology, etiology, and pathophysiology. Additionally, the book touches on the implications of new research for treatment and genetic counseling. Importantly, because the field is advancing rapidly, no book can be considered the final word or finished product; thus, the availability of open access rapid publication is a mechanism that will help to assure that readers remain current and up-to-date

    Advances in Autism Research

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    This book represents one of the most up-to-date collections of articles on clinical practice and research in the field of Autism Spectrum Disorders (ASD). The scholars who contributed to this book are experts in their field, carrying out cutting edge research in prestigious institutes worldwide (e.g., Harvard Medical School, University of California, MIND Institute, King’s College, Karolinska Institute, and many others). The book addressed many topics, including (1) The COVID-19 pandemic; (2) Epidemiology and prevalence; (3) Screening and early behavioral markers; (4) Diagnostic and phenotypic profile; (5) Treatment and intervention; (6) Etiopathogenesis (biomarkers, biology, and genetic, epigenetic, and risk factors); (7) Comorbidity; (8) Adulthood; and (9) Broader Autism Phenotype (BAP). This book testifies to the complexity of performing research in the field of ASD. The published contributions underline areas of progress and ongoing challenges in which more certain data is expected in the coming years. It would be desirable that experts, clinicians, researchers, and trainees could have the opportunity to read this updated text describing the challenging heterogeneity of Autism Spectrum Disorder

    Identification of ATP8A2 gene mutation in a consaguineous family segregating cerebellar atrophy and quadrupedal gait

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    Ankara : The Department of Molecular Biology and Genetics and the Graduate School of Engineering and Science of Bilkent University, 2012.Thesis (Ph. D.) -- Bilkent University, 2012.Includes bibliographical references leaves 138-153.Cerebellar ataxia, mental retardation, and dysequilibrium syndrome is a rare and heterogeneous neurodevelopmental disorder characterized by cerebellar atrophy, dysarthric speech, and quadrupedal locomotion. Here, a consanguineous family with four affected individuals which suggest an autosomal recessive inheritance was investigated. Homozygosity mapping analysis using high-resolution genotyping arrays in two affected individuals revealed four shared homozygous regions on 13q12, 19p13.3, 19q13.2, and 20q12. Target enrichment and next-generation sequencing of these regions in an affected individual was uncovered 11 novel protein altering variants which were filtered against dbSNP132 and 1000 genomes databases. Further population filtering using personal genome databases and previous exome sequencing datasets, segregation analysis, geographically-matched population screening, and prediction approaches revealed a novel missense mutation, p.I376M, in ATP8A2 segregated with the phenotype in the family. The mutation resides in a highly conserved C-terminal transmembrane region of E1-E2 ATPase domain. ATP8A2 is mainly expressed in brain, in particular with the highest levels at cerebellum which is a crucial organ for motor coordination. Mice deficient with Atp8a2 revealed impaired axonal transport in the motor neurons associated with severe cerebellar ataxia and body tremors. Recently, an unrelated individual with a de novo t(10;13) balanced translocation whose one of the ATP8A2 allele was disrupted has been identified. This patient shares similar neurological phenotypes including severe mental retardation and hypotonia. These findings suggest a role for ATP8A2 in the neurodevelopment, especially in the development of cerebro-cerebellar structures required for posture and gait in humans.Onat, Onur EmrePh.D

    The human genome; you gain some, you lose some

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    Copy number variations (CNVs) in the human genome are inherent in both evolutionary progression as well as the etiology of disease. The introduction of this thesis will review CNVs that appear to be neutral as well as CNVs that appear to be related to a phenotypic trait. This will be followed by a review of the many different technical approaches that can be used for detecting genomic rearrangements. The articles (chapter II & III) describe several studies that have applied the rapidly evolving techniques for CNV detection to the clinical problem of unexplained mental retardation and congenital malformation(s). The availability of the new diagnostic tools will greatly increase our understanding of the genetic causes of mental retardation and congenital malformation(s), and might one day lead to therapeutic interventions in some cases.LUMC, afd. Klinische Genetica en Humane GeneticaThe Netherland Organisation for Health Research and Development (ZonMW). Registration number 940-37-032.Genoomkartering en moleculaire cytogenetic

    Segregation, integration, inclusion and effective provision: a case study of perspectives from special educational needs children, parents and teachers in Bangalore, India

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    Educating special educational needs (SEN) children in special schools is the norm in India but there is a growing trend towards inclusive practice. Perspectives were sought from children, their parents and teachers in Bangalore, India to investigate perceptions of effective provision for SEN children using an interpretative approach to provide ‘thick descriptions’. Findings suggest that integration of SEN children in mainstream schools was not the preferred model for both the children and adults in the study. Separate schooling was cited by the majority of respondents as the most appropriate model for reasons of unsuitable pedagogy and curriculum, a lack of individualised attention for children and difficulties of social interaction. The study reveals that teacher dedication, passion and care for the SEN children in their classes is juxtaposed with an acknowledgment of their professional training and development needs. These findings provide teachers and policy makers with an in depth insight from this sample case study into the perspectives of children, their parents and teachers on appropriate SEN provision and the challenges of implementing inclusive practice
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