The purpose of this study was to investigate the effects of dialogic reading as an intervention on participant ability to answer “wh” comprehension questions correctly and independently. Previous research conducted on dialogic reading was primarily conducted with young individuals with autism spectrum disorder, leaving a gap in the research with older age participants. Participants of this study included four students in upper elementary grades 4-6, ages 8-12 who have been identified to have a known deficit in reading comprehension, a cognitive disability, or autism spectrum disorder (ASD) in an attempt to further extend the research on dialogic reading as an intervention strategy. A multiple probe across participants design was used to determine efficacy of the intervention. Data collection probes were conducted during baseline, intervention, generalization, and maintenance phases to determine efficacy of the intervention on participant ability to answer “wh” comprehension questions. Results indicate an increase in participant ability to answer comprehension questions while engaging in dialogic reading lessons for two participants. Limitations and implications for future research and practice will be discussed.

Facial expressions convey non-verbal cues. Humans use facial expressions to show emotions, which play an important role in interpersonal relations and can be of use in many applications involving psychology, human-computer interaction, health care, e-commerce, and many others. Although humans recognize facial expressions in a scene with little or no effort, reliable expression recognition by machine is still a challenging problem. Automatic facial expression recognition (FER) has several related problems: face detection, face representation, extraction of the facial expression information, and classification of expressions, particularly under conditions of input data variability such as illumination and pose variation. A system that performs these operations accurately and in realtime would be a major step forward in achieving a human-like interaction between the man and machine. This document introduces novel approaches for the automatic recognition of the basic facial expressions, namely, happiness, surprise, sadness, fear, disgust, anger, and neutral using relatively low-resolution noisy sensor such as the Microsoft Kinect. Such sensors are capable of fast data collection, but the low-resolution noisy data present unique challenges when identifying subtle changes in appearance. This dissertation will present the work that has been done to address these challenges and the corresponding results. The lack of Kinect-based FER datasets motivated this work to build two Kinect-based RGBD+time FER datasets that include facial expressions of adults and children. To the best of our knowledge, they are the first FER-oriented datasets that include children. Availability of children data is important for research focused on children (e.g., psychology studies on facial expressions of children with autism), and also allows researchers to do deeper studies on automatic FER by analyzing possible differences between data coming from adults and children. The key contributions of this dissertation are both empirical and theoretical. The empirical contributions include the design and successful test of three FER systems that outperform existing FER systems either when tested on public datasets or in realtime. One proposed approach automatically tunes itself to the given 3D data by identifying the best distance metric that maximizes the system accuracy. Compared to traditional approaches where a fixed distance metric is employed for all classes, the presented adaptive approach had better recognition accuracy especially in non-frontal poses. Another proposed system combines high dimensional feature vectors extracted from 2D and 3D modalities via a novel fusion technique. This system achieved 80% accuracy which outperforms the state of the art on the public VT-KFER dataset by more than 13%. The third proposed system has been designed and successfully tested to recognize the six basic expressions plus neutral in realtime using only 3D data captured by the Kinect. When tested on a public FER dataset, it achieved 67% (7% higher than other 3D-based FER systems) in multi-class mode and 89% (i.e., 9% higher than the state of the art) in binary mode. When the system was tested in realtime on 20 children, it achieved over 73% on a reduced set of expressions. To the best of our knowledge, this is the first known system that has been tested on relatively large dataset of children in realtime. The theoretical contributions include 1) the development of a novel feature selection approach that ranks the features based on their class separability, and 2) the development of the Dual Kernel Discriminant Analysis (DKDA) feature fusion algorithm. This later approach addresses the problem of fusing high dimensional noisy data that are highly nonlinear distributed. / PHD

O transtorno do espectro autista (ASD) é uma doença clinica e geneticamente heterogênea, com mecanismo etiológico ainda pouco conhecido. Assim, os principais objetivos deste trabalho foram descrever as características clínicas e genéticas de pacientes brasileiros com ASD, bem como determinar o risco de recorrência e a herdabilidade. Verificamos que a maioria das comorbidades avaliadas tem prevalência similar àquelas anteriormente descritas. A hipotonia exibiu maior prevalência no sexo feminino. A ausência de fala apresentou prevalência significativamente maior no grupo de pacientes com comorbidades, sendo que a gravidade da fala foi positivamente correlacionada com a presença das crises convulsivas. A herdabilidade estimada foi de 76% e o risco de recorrência ~5%. As alterações citogenéticas e os casos positivos para a Síndrome do X-Frágil explicaram cerca de 8% dos casos de ASD da nossa amostra. As CNVs nas regiões estudadas foram detectadas em 2,7% da amostra. Nós verificamos que há penetrância incompleta do ASD para as regiões. O estudo mais detalhado dos dois casos de duplicação da região 15q13.3, envolvendo somente o gene CHRNA7, mostrou que um dos pacientes (F5240) exibiu uma segunda CNV, possivelmente patogênica. A análise in silico sugeriu que genes que interagem diretamente com o CHRNA7 podem conter mutações patogênicas e, juntamente com a duplicação do 15q13.3, possivelmente estão envolvidos na etiologia do ASD. Este estudo mostrou que é necessário fazer uma ampla caracterização genética dos pacientes, para possibilitar o estudo dos possíveis mecanismos moleculares envolvidos na causa do ASD / Autism Spectrum Disorder (ASD) is a clinically and genetically heterogeneous disease and its etiological mechanisms are still poorly understood. The main objectives of this study were to describe the clinical and genetic features of Brazilian patients with ASD, and to determine the recurrence risk and heritability. Great part of the comorbidities assessed here had comparable prevalence to those of previous works. The hypotonia was significantly prevalent in the female sex. Absent speech was significantly more frequent in patients with comorbidities, and severity of speech problems was positively correlated with presence of seizures. Heritability was estimated as 76% and the recurrence risk as approximately 5%. Cytogenetic alterations and positive results for Fragile X Syndrome explain about 8% of the ASD etiology of our sample. The CNVs at the chromosomal regions 15q11-q13, 16p11.2 and 22q13 were present in 2.7% of the sample. Incomplete penetrance of ASD was observed for the 16p and 15q regions. Further investigation of the two cases with duplication of the region 15q13.3, involving only the CHRNA7 gene, revealed that one of them (F5240) exhibited a second possible pathogenic CNV. In silico analysis suggested that genes interacting directly with the CHRNA7 could harbor pathogenic mutations and, together with the duplication at 15q13.3, could be involved in the ASD etiology. This study showed the necessity of a broad genetic characterization of patients with ASD, to enable the elucidation of possible molecular mechanisms related to ASD etiology

As time keeps on passing, diagnosing a child with Autism keeps on expanding. The research study focuses on gathering data on the impact of mothers that have a child diagnosed on the Autism Spectrum Disorder (ASD). The members chose were from an online all mothers support group. The study was gathered utilizing the post positive approach. After fulfillment of the research the members will be able to view the results of this study by going to the California State University San Bernardino scholar works website. This research was conducted to share information to clinicians and any reader on the day by day battles and difficulties mothers face by caring for a child diagnosed with Autism.

Trots att studier visar att personer med autismspektrumdiagnos (ASD) ofta behöver hjälp med att sköta sin personliga hygien, samt att mödrar till barn med ASD ofta behöver assistera dem i deras aktiviteter i dagliga livet (ADL) saknas det forskning om vad detta stöd faktiskt består av. Syftet med den aktuella studien är att öka kunskapen om mödrars erfarenheter av att hjälpa ungdomar med ASD med deras personliga hygien samt med påklädning. 3 flickmödrar och 3 pojkmödrar intervjuades om hur de hjälpte sina barn med Dusch/Tvätt, Hårvård, Naglar, Påklädning, Tandborstning, Toalettbesök, Torka sig efter toalettbesök samt Torka sig med handduk. Flickmödrar fick också frågor om Menstruation. Analysen baserades på Anthony Giddens' teorier om Modernitet och Självidentitet. Intervjuerna skrevs om till 6 narrativ, vilka analyserades tillsammans med relevanta delar från intervjuerna. Resultatet presenteras som 3 huvudteman. Resultatet visar bland annat att ungdomarna hade ett omfattande hjälpbehov och att mödrarna hjälpte sina barn både fysiskt och verbalt. Mödrarnas förståelse för och lojalitet gentemot barnen och deras svårigheter var förhållandevis hög medan deras tillit till sakkunniga var relativt låg. / Although studies indicate that people with Autism Spectrum Disorder (ASD) often need help with their personal hygiene, in addition to the fact that mothers of children with ASD often need to assist them in their activities of daily living (ADL), little research has been made as to what this support actually consists of. The purpose of the present study is to investigate how mothers of children aged 10-15 with ASD help their children to manage their personal hygiene, and what effect this has on their mothers. 3 mothers of girls and 3 mothers of boys were interviewed about how they supported their children in the following activities: Dressing, Hair care, Nail cutting, Toilet use, Tooth brushing, Toweling, Washing and Wiping. Mothers of girls were also asked about Menstruation. The analyses were based on Anthony Giddens' theories on Modernity and Self Identity. Afterwards, the interviews were converted into six narratives. These narratives along with pertinent elements from the interviews were analyzed and the result presented as 3 main themes. Results show among other things that the mothers supported their children both physically and verbally. The mothers' appreciation and loyality with their children were proportionately high, whereas their confidence in experts was rather low.

O transtorno do espectro autista (ASD) é uma doença clinica e geneticamente heterogênea, com mecanismo etiológico ainda pouco conhecido. Assim, os principais objetivos deste trabalho foram descrever as características clínicas e genéticas de pacientes brasileiros com ASD, bem como determinar o risco de recorrência e a herdabilidade. Verificamos que a maioria das comorbidades avaliadas tem prevalência similar àquelas anteriormente descritas. A hipotonia exibiu maior prevalência no sexo feminino. A ausência de fala apresentou prevalência significativamente maior no grupo de pacientes com comorbidades, sendo que a gravidade da fala foi positivamente correlacionada com a presença das crises convulsivas. A herdabilidade estimada foi de 76% e o risco de recorrência ~5%. As alterações citogenéticas e os casos positivos para a Síndrome do X-Frágil explicaram cerca de 8% dos casos de ASD da nossa amostra. As CNVs nas regiões estudadas foram detectadas em 2,7% da amostra. Nós verificamos que há penetrância incompleta do ASD para as regiões. O estudo mais detalhado dos dois casos de duplicação da região 15q13.3, envolvendo somente o gene CHRNA7, mostrou que um dos pacientes (F5240) exibiu uma segunda CNV, possivelmente patogênica. A análise in silico sugeriu que genes que interagem diretamente com o CHRNA7 podem conter mutações patogênicas e, juntamente com a duplicação do 15q13.3, possivelmente estão envolvidos na etiologia do ASD. Este estudo mostrou que é necessário fazer uma ampla caracterização genética dos pacientes, para possibilitar o estudo dos possíveis mecanismos moleculares envolvidos na causa do ASD / Autism Spectrum Disorder (ASD) is a clinically and genetically heterogeneous disease and its etiological mechanisms are still poorly understood. The main objectives of this study were to describe the clinical and genetic features of Brazilian patients with ASD, and to determine the recurrence risk and heritability. Great part of the comorbidities assessed here had comparable prevalence to those of previous works. The hypotonia was significantly prevalent in the female sex. Absent speech was significantly more frequent in patients with comorbidities, and severity of speech problems was positively correlated with presence of seizures. Heritability was estimated as 76% and the recurrence risk as approximately 5%. Cytogenetic alterations and positive results for Fragile X Syndrome explain about 8% of the ASD etiology of our sample. The CNVs at the chromosomal regions 15q11-q13, 16p11.2 and 22q13 were present in 2.7% of the sample. Incomplete penetrance of ASD was observed for the 16p and 15q regions. Further investigation of the two cases with duplication of the region 15q13.3, involving only the CHRNA7 gene, revealed that one of them (F5240) exhibited a second possible pathogenic CNV. In silico analysis suggested that genes interacting directly with the CHRNA7 could harbor pathogenic mutations and, together with the duplication at 15q13.3, could be involved in the ASD etiology. This study showed the necessity of a broad genetic characterization of patients with ASD, to enable the elucidation of possible molecular mechanisms related to ASD etiology

Standard clinical and psychiatric thinking follows a unipolar logic that is centered at “normal” conditions characterized by optimal performance in everyday life, with more atypical conditions being defined by the (degree of) absence of “normality.” A similar logic has been used to describe cognitive control, assuming that optimal control abilities are characterized by a strong focus on the current goal and ignorance of goal-irrelevant information (the concept of willpower), while difficulties in focusing and ignoring are considered indications of the absence of control abilities. However, there is increasing evidence that willpower represents only one side of the control coin. While a strong focus on the current goal can be beneficial under some conditions, other conditions would benefit from a more open mind, from flexibility to consider alternative goals and information related to them. According to the metacontrol model, people can vary in their cognitive processing style, on a dimension with the extreme poles of “persistence” on the one hand and “flexibility” on the other. Whereas a high degree of persistence corresponds to the original idea of cognitive control as willpower, with a strong focus on one goal and the information related to it, a high degree of flexibility is characterized by a more integrative, less selective and exclusive processing style, which facilitates switching between tasks, ideas, and actions, and taking into consideration a broader range of possibilities. We argue that this approach calls for a more bipolar account in the clinical sciences as well. Rather than considering individuals as typical or atypical, it would theoretically and practically make more sense to characterize their cognitive abilities in terms of underlying dimensions, such as the persistence/flexibility dimension. This would reveal that possible weaknesses with respect to one pole, such as persistence, and tasks relying thereupon, may come with corresponding strengths with respect to the other pole, such as flexibility, and respective tasks. We bolster our claim by discussing available evidence suggesting that neurodevelopmental atypicality often comes with weaknesses in tasks related to one pole but strengths in tasks related to the other.

No description available.

No description available.

Thesis (MNutr)--Stellenbosch University, 2012. / ENGLISH ABSTRACT: Objectives: Children with autism spectrum disorder (ASD) are known to have feeding difficulties. This study gathered information from parents/caregivers with children diagnosed with ASD. The following aspects were investigated: early feeding history, food preferences, sensory issues, current dietary practices and the use of nutritional supplements and special diets. The study also gathered information regarding these families’ experience with dietitians in supporting them with advice related to dietary problems. Methodology: An online questionnaire was used and the link to the study was placed on the National Autistic Society (NAS) of the United Kingdom’s website to recruit participants. Parents/ caregivers of children aged between 3-16 years and diagnosed with ASD, who resided in England, could take part in the study. Results: Three hundred and twenty five parents/ caregivers participated in the study. The mean age of children was 9.5 years. The majority of children were male (85%). The most common feeding problem was the transition from stage 1 weaning foods to more textured food (55.6%). Sensory problems played a large role in food acceptance. Clear preferences were made for crunchy (81.5%) or dry foods (79%), followed by food with a smooth consistency (69.8%) such as yogurt. Food appearance and presentation (64%) was the main determinant of food acceptance and specific brands and packaging played a major role. Habitual food intake and continually choosing the same foods for meals were present in the majority of children (75.6%). Specific preference was given to the following foods: starchy vegetables (62.6%), refined carbohydrates (81%), processed meat products (69.2%) and dairy products (68.6%). The use of ‘special’ and exclusion diets were not popular. However, where specifically gluten and/ or casein were excluded (19%, n=55), it was generally excluded for more than one year. Reported observations with these exclusions were: improvement in bowel habits, sleep, concentration, behaviour and social communication. The use of nutritional supplements were significantly higher (p<0.5) where exclusion diets were used. A large number of children (43.4%, n=23) on exclusion diets, have not been consulted by a dietitian. Most parents /caregivers (58.1%) had the perception that dietitians were lacking knowledge of ASD and had inadequate knowledge of current dietary interventions for children with ASD (61.7%). However, parents felt that it was reassuring to consult a dietitian, that practical advice was given to improve dietary intake and that generally it reduced their concern regarding their child’s dietary intake. Conclusion: The study highlights the complexity of ASD and the variable effect it has on eating, behaviour and dietary intake. The use of the gluten and casein free (GFCF) diet may improve general wellbeing in some children with ASD when used appropriately and warrants further investigation. It is concerning that only a minority of children on exclusion diets are consulted by dietitians to ensure nutritional adequacy. Due to the complexity of ASD and in the absence of clear guidance for dietary interventions, dietitians who work with children with ASD need to be supported by continued training opportunities in order to enhance their competencies and optimise their service delivery. / AFRIKAANSE OPSOMMING: Doelwitte: Kinders wat aan Outismespektrum-steuring (OSS) lei is geneig om voedingsprobleme te hê. Die studie het inligting ingesamel van ouers en versorgers met kinders wat met OSS gediagnoseer is. Die volgende aspekte is ondersoek: vroeë voedingsgeskiedenis, voedsel voorkeure, sensoriese probleme, huidige eetgewoontes en die gebruik van nutriëntaanvullings en spesiale diëte. Die studie het ook inligting ingesamel aangaande gesinne se ondervinding met dieetkundiges en ondersteuning met dieetprobleme. Metodologie: ‘n Elektroniese vraellys is gebruik en die skakel na die studie was op die webwerf van die National Autistic Society (NAS) van die Verenigde Koninkryk geplaas om deelnemers te werf. Ouers/ versorgers van kinders tussen die ouderdomme van 3-16 jaar, met ‘n diagnose van OSS en woonagtig in Engeland, kon deelneem aan die studie. Resultate: Drie honderd vyf en twintig ouers/ versorgers het deelgeneem aan die studie. Die gemiddelde ouderdom van die kinders was 9.5 jaar en 85% was manlik. Die mees algemene voedingsprobleem vir kinders met OSS was die oorgangsfase van gladde speningsvoedsel na growwer voedsel (55.6%). Sensoriese probleme het ‘n groot rol gespeel in voedselaanvaarding. Daar was duidelike voorkeure vir bros (81.5%) en droë voedsel (79%), gevolg deur voedsel met ‘n gladde tekstuur soos jogurt (69.8%). Die voorkoms en aanbieding van voedsel het grootliks bepaal of voedsel aanvaarbaar (64%) is. Spesifieke handelsmerke of verpakkings het ‘n groot rol gespeel (64.7%). Die meeste van die kinders (75.6%) het vaste eetgewoontes gehad en dieselfde kos tydens maaltye gekies. Die volgende voedselsoorte was verkies: styselryke groente (62.6%), verfynde koolhidrate (81%), geprosesseerde vleis produkte (69.2%) en suiwel produkte (68.6%). Die gebruik van spesiale en uitsluitingsdiëte was ongewild. Waar gluten- en kaseïen-uitsluitingsdiëte (19%, n=55) gebruik is, is dit meestal vir langer as een jaar gebruik. Met die gebruik van uitsluitingsdiëte is verbeteringe waargeneem in stoelgang gewoontes, slaap, konsentrasie, gedrag en sosiale kommunikasie. Die gebruik van nutriëntsupplemente was beduidend hoër (p<0.5) in die groep waar uitsluitingsdiëte gebruik is. ‘n Hoë persentasie kinders (43.4%, n=23) wat op uitsluitingsdiëte was, is nie deur dieetkundiges gekonsulteer nie. Die meeste ouers /versorgers (58.1%) het gevoel dat dieetkundiges gebrekkige kennis oor OSS en dieetverwante probleme het, asook onvoldoende kennis van huidige dieet intervensies vir kinders met OSS (61.7%). Ouers het wel gevoel dat dit gerusstellend was om dieetkundiges te gaan spreek vir praktiese raad om dieet inname te verbeter. Dit het ook hul kommer veminder aangaande kinders se diëte. Gevolgtrekking: Die studie benadruk die kompleksiteit van OSS en die wisselende effek wat dit op eetgewoontes, gedrag en voedsel inname het. Die gebruik van die gluten- en kaseïenvrye diëte kan moontlik die gesondheid en welsyn van sommige kinders met outisme verbeter mits dit reg gebruik word, maar vereis verdere navorsing. Dit was kommerwekkend dat ‘n minderheid van die kinders op uitsluitingsdiëte deur dieetkundiges gekonsulteer word om voldoende nutriëntinname te verseker. Aangesien OSS ‘n komplekse toestand is en daar ‘n gebrek is aan duidelike riglyne vir dieet intervensies, word dit aanbeveel dat dieetkundiges wat met kinders met OSS werk ondersteun word deur opleidingsgeleenthede om hul vaardighede te verbeter en dienslewering te optimaliseer.