School-age children with autism spectrum disorders (ASDs) are rarely asked to describe their experiences within the programs that they receive and are largely missing from the narrative of their own lives. Adapted physical education (APE), a subdiscipline of physical education, is one of the services frequently accessed by this population. Current literature on the experiences of children with autism spectrum disorder (ASD) has focused on special education classrooms, sensory perceptions, and general physical education classes. However, no prior studies had addressed how school-age children with ASD perceive their APE experience. Therefore, the purpose of this qualitative study was to use interpretive phenomenology to explore how middle school children (Grades 6 to 8) ages 10 to 14 with ASD perceive their APE experience. Data were collected from 10 middle school children through observations in their APE setting, drawings, and interviews. Exploratory, linguistic, and conceptual comments were used to deconstruct the data, develop themes in individual cases, and then identify connections across cases. Themes that emerged from the participants were their positive experiences in APE, understanding of the importance of being physically active, sedentary behavior in their spare time, and desire for time in APE. This study has positive social change implications such that it includes individuals with ASD into the commentary regarding their experiences and may help APE teachers by providing insight into the experience of children with ASD in APE, which may in turn help develop improved services for this population.

Children with Autism Spectrum Disorders demonstrate deficits in speech and language, with the most outstanding speech impairments being in comprehension, semantics, prosody, and pragmatics. Perception and production of music and speech in children with ASD appear to follow the same principles of Gestalt pattern perceptual organization. In addition, common neuroanatomical structures and similar patterns of cortical activation mediate the perception and production of speech and music. Therefore, the purpose of this study was to explore how the perception of musical stimuli would impact the perception and production of speech and language in children with ASD. The study examined the effect of developmental speech-language training through music on the speech production of children with ASD. The participants were 50 children with ASD, age range 3 to 5 years, who had previously been evaluated on standard tests of language and level of functioning. The children completed the pre-test, six sessions of training, and the post-test. The pre-and post-tests consisted of the Verbal Production Evaluation Scale (VPES) and measured each participant's verbal production including semantics, phonology, pragmatics, and prosody, of 36 target words. Eighteen participants completed music training, in which they watched a music video containing six songs and pictures of the 36 target words. Another group of eighteen participants completed speech training, in which they watched a speech video containing six stories and pictures of target words. Fourteen participants were randomly assigned to a no-training condition. Results of the study showed that participants in both music and speech training significantly increased their scores on the VPES from the pre-test to the post-test. Both music and speech training were effective for enhancing participants' speech production including semantics, phonology, pragmatics, and prosody. Participants who received music training made greater progress on speech production than participants who received the speech training; however, the difference was not statistically significant. Results of the study also indicated that the level of speech production was influenced by the level of functioning in children with ASD. An interaction between level of functioning and training conditions on speech production approached significance. The results indicate that both high and low functioning participants improved their speech production after receiving either music or speech training; however, low functioning participants showed a greater improvement in speech production after the music training than after the speech training. Collectively, music training was more effective for speech production in low functioning children with ASD than was speech training. The study suggests that the superior performance in speech production in children with ASD who received music training might be generated from music stimuli which were organized by the Gestalt laws of pattern perception. In conclusion, children with ASD appear to perceive important linguistic information (i.e., target words) embedded in music stimuli, and can verbally produce the words as functional speech. These results provide evidence for the use of music as an effective way to enhance speech production in children with ASD.

Induced pluripotent stem (iPS) cells generated from patients hold great promise for studying diseases that affect the central nervous system, as differentiation into the neuronal lineage creates a limitless supply of affected cells for disease study. Rett syndrome (RTT) is a neurodevelopmental autism spectrum disorder primarily caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene. Due to the inaccessibility of patient neurons, most of what is known about underlying phenotypes has been described using mouse models. iPS cells provide a potential solution, but reprogramming of patient cells is hampered by low efficiency, and early methods of identifying iPS cells involve transgenic techniques that are not translatable to human patient samples. The first part of this thesis describes the generation and characterization of a pluripotency reporter to address this issue. The EOS lentiviral reporter allows real-time observation of pluripotency changes during reprogramming, and is a useful tool for more efficient isolation of reprogrammed cell lines. Further, the EOS selection system can be used in a disease context to reproducibly mark and maintain disease-specific iPS cell lines for future use in disease modelling. Though iPS cells have been used to study RTT in vitro, extensive assessments of neuron function and electrophysiology have not yet been performed. In the second part of this thesis, iPS cell lines generated from a RTT mouse model were tested for their ability to model disease in vitro. Directed differentiation of multiple Mecp2-deficient and wild-type iPS cell lines to glutamatergic neurons revealed neurons that lack Mecp2 have a smaller soma size, diminished sodium currents, and are less excitable, firing fewer, prolonged action potentials that are smaller in magnitude. This deficiency in intrinsic excitability was accompanied by a dysfunction at excitatory glutamatergic synapses, which together recapitulate changes previously observed in the Mecp2-deficient mouse brain. Having accumulated counts and recordings from hundreds of neurons with consistent responses among lines, the iPS cell system is a representative model of the neuronal and synaptic defects in RTT. These results illustrate the requirement of MeCP2 in normal neuronal function, and suggest altered neuronal homeostasis or aberrant network circuitry may underlie RTT pathogenesis.

The diagnosis of autism is a comprehensive process that requires trained professionals and is often a time consuming process. Behavior rating scales are common components used by practitioners in evaluations to assess various social, emotional, or behavioral problems. With the rise of awareness, the steady increase of autism diagnoses, and the importance of early identification to increase the effectiveness of intervention, there is a need for screeners to identify the characteristics of Autism Spectrum Disorders. The purpose of the present study was to determine if there was a group of items on the Child Behavior Checklist/1.5-5 that reliably distinguished between children with autism and referred, but non-spectrum children. A behavior rating scale was completed by parents and/or guardians of 156 preschool children with autism and without autism. Analyses of the data revealed a grouping of items that were significantly correlated with the diagnosis of autism. Based on predetermined cutoff scores, sensitivity, and specificity; the group of items may be useful in the recommendation of further assessment of autism.

Background Individuals with Autism Spectrum Disorder (ASD) have been reported to show socio-communicative impairments which are associated with impaired face perception and atypical gaze behaviour. Attending to faces and interpreting the important socio-communicative cues presented allows us to understand other’s cognitive states, emotions, wants and desires. This information enables successful social encounters and interactions to take place. Children with ASD not attending to these important social cues on the face may cause some of the socio-communicative impairments observed within this population. Examining how children with ASD attend to faces will enhance our understanding of their communicative impairments. Aim The present thesis therefore aimed to use eye-tracking methodology to examine attention allocation to faces for communicative cues in children with ASD. Method The first line of enquiry examined how children with ASD (n = 21; age = 13y7m) attended to faces presented within their picture communication systems compared to typically developing children matched on chronological age, verbal ability age and visuo-spatial ability age. The next investigation was conducted on the same group of children and examined how children with ASD attended to faces of different familiarity including, familiar, unfamiliar and the child’s own face. These faces were also presented with direct gaze or averted gaze to investigate how this would impact on the children’s allocation of attention. The final exploration highlighted how children with ASD (n = 20; age = 12y3m) attended to socially salient information (faces) and non-socially salient information (objects) presented within social scenes of varying complexity, compared to typically developing controls. Again groups were matched based on chronological age, verbal ability age, and visuo-spatial ability age. Results Children with ASD were shown to allocate attention to faces presented within their picture communication symbols similarly compared to their typically developing counterparts. All children were shown to fixate significantly longer on the face images compared to the object images. The children with ASD fixated for similar amounts of time to the eye and mouth regions regardless of familiarity and gaze direction compared to their controlled matches. All groups looked significantly longer at the eye areas compared to the mouth areas of the faces across all familiarity types. The children also fixated longer on the eye and mouth regions of direct gazing faces compared to the regions presented on the averted gazing faces. The children with ASD fixated on the faces and objects presented within social scenes similar to their typically developing counterparts across all complexity conditions. The children were shown to fixate significantly longer on the objects compared to the faces. Conclusions Children with ASD showed typical allocation of attention to faces. This suggests that faces are not aversive to them and they are able to attend to the relevant areas such as eye and mouth regions. This may have been influenced by the inclusion of high functioning children with ASD. However these results may also suggest that attention allocation and gaze behaviour are not the only factors which contribute to the socio-communicative impairments observed in ASD.

Diagnosis of fetal alcohol spectrum disorders (FASD) is challenging and typically requires confirmation of in utero alcohol exposure. Due to the poor reliability of maternal self-reports, biomarkers have emerged to address the problem of obtaining exposure history. A relatively novel method for detecting prenatal alcohol exposure is analysis of meconium for fatty acid ethyl esters (FAEEs), which are non-oxidative ethanol metabolites. Screening newborns using meconium FAEEs may facilitate early diagnosis and intervention in alcohol-affected individuals. The overall objective of this thesis is to further investigate, validate, and assess the clinical utility of meconium FAEE analysis as a screening tool for the identification of neonates at-risk for FASD. This objective was addressed in four separate studies. The first study assessed whether meconium FAEE concentrations can be predictive of ethanol-induced organ injury in fetal sheep, and determined that the levels of these esters could be used to identify fetuses at-risk for organ dysfunction that do not display overt physical signs of ethanol teratogenicity. The second study investigated the effect of delayed meconium collection and contamination with postnatal stool on FAEE analysis, and determined it to be a risk factor for false positive test results. In the third study, maternal willingness to partake in an open meconium screening program was assessed and found to be low enough to diminish the utility of meconium FAEE testing for population-based open screening. Lastly, a systematic review examining the capacity for FAEE synthesis and the enzymology of this non-oxidative metabolic pathway in mammalian organs and tissues revealed that FAEE synthesis is mediated by numerous enzymes and isoenzymes, many of which have other primary physiological functions, and that their contribution to overall FAEE-synthesis may be tissue-specific. Overall, the results of this research provide new information on the benefits, limitations, and utility of meconium FAEE testing as a screening tool for identifying prenatal alcohol exposure − a test that may be of great clinical value in the diagnosis and management of FASD.

Kognityvieji sukeltieji potencialai arba su įvykiu susiję potencialai (SĮSP) leidžia įvertinti kai kurias kognityviąsias funkcijas. Jie nuo pat sukūrimo pradžios yra sėkmingai taikomi ir psichikos sutrikimų tyrimuose. SĮSP neinvaziškumas, objektyvumas, saugumas leidžia juos taikyti kognityviųjų funkcijų pokyčių, sukeltų medikamentinio gydymo ar kitos nemedikamentinės terapinės procedūros, įvertinimui. Pagrindinis darbo tikslas buvo įvertinti informacijos apdorojimo klausos sistemoje kitimą atipinių antipsichotikų risperidono ir kvetiapino poveikyje ir nemedikamentinių terapijos metodų - elektros impulsų terapijos bei metaglosoterapijos - poveikyje taikant su įvykiu susijusio potencialo P300 skaitmeninio registravimo ir kiekybinės analizės metodus. Klausos sukeltas P300 potencialas buvo registruojamas taikant „atsitiktinio įvykio“ principą trimis elektrodais (Fz, Cz ir Pz). Buvo matuojami 4 sukeltojo potencialo P300 parametrai: N2 latencija, P300 latencija, P300 amplitudė ir reikšmingo dirgiklio atpažinimo laikas. Darbo rezultatai parodė, kad SĮSP parametrai yra jautrūs informacijos apdorojimo klausos sistemoje procesų pažeidimo šizofrenijos spektro sutrikimų atveju rodikliai. Didesnę teigiamą įtaką klausos sukeltajam potencialui P300 turėjo atipinis antipsichotikas kvetiapinas. Nemedikamentiniai psichikos sutrikimų gydymo metodai nenusileidžia efektyvumu gerinant pacientų kognityviąsias funkcijas medikamentinei terapijai atipiniais antipsichotikais. / Recording and analysis of event-related potentials is safe and harmless method of evaluation of cognition and is suitable to follow the changes of cognitive processes induced by psychoactive drugs or other therapeutic procedures. The main aim of the work was to evaluate the influence of atypical antipsychotics risperidone and quetiapine and such nonpharmacological methods as electroconvulsive therapy and metaglossotherapy on the changes of information processing in the auditory system using event-related potential P300 recording and analysis method. Auditory P300 potential was elicited applying “odd-ball” paradigm and recorded at 3 electrode sites (Fz, Cz, Pz). 4 parameters of P300 potential were measured: N2 latency, P300 latency, P300 amplitude and recognition time of target stimulus. Total number of 85 patients with schizophrenia spectrum disorders and mood disorders were studied. Results of this work showed that the parameters of P300 potential are sensitive indicators of abnormalities of information processing in auditory system in the case of schizophrenia spectrum disorders. More considerable positive influence on the event-related potential P300 had atypical antipsychotic quetiapine and that nonpharmacological methods of treatment of psychiatric disorders are as effective as drug therapy with atypical antipsychotics in remediation of cognitive functions.

Recording and analysis of event-related potentials is safe and harmless method of evaluation of cognition and is suitable to follow the changes of cognitive processes induced by psychoactive drugs or other therapeutic procedures. The main aim of the work was to evaluate the influence of atypical antipsychotics risperidone and quetiapine and such nonpharmacological methods as electroconvulsive therapy and metaglossotherapy on the changes of information processing in the auditory system using event-related potential P300 recording and analysis method. Auditory P300 potential was elicited applying “odd-ball” paradigm and recorded at 3 electrode sites (Fz, Cz, Pz). 4 parameters of P300 potential were measured: N2 latency, P300 latency, P300 amplitude and recognition time of target stimulus. Total number of 85 patients with schizophrenia spectrum disorders and mood disorders were studied. Results of this work showed that the parameters of P300 potential are sensitive indicators of abnormalities of information processing in auditory system in the case of schizophrenia spectrum disorders. More considerable positive influence on the event-related potential P300 had atypical antipsychotic quetiapine and that nonpharmacological methods of treatment of psychiatric disorders are as effective as drug therapy with atypical antipsychotics in remediation of cognitive functions. / Kognityvieji sukeltieji potencialai arba su įvykiu susiję potencialai (SĮSP) leidžia įvertinti kai kurias kognityviąsias funkcijas. Jie nuo pat sukūrimo pradžios yra sėkmingai taikomi ir psichikos sutrikimų tyrimuose. SĮSP neinvaziškumas, objektyvumas, saugumas leidžia juos taikyti kognityviųjų funkcijų pokyčių, sukeltų medikamentinio gydymo ar kitos nemedikamentinės terapinės procedūros, įvertinimui. Pagrindinis darbo tikslas buvo įvertinti informacijos apdorojimo klausos sistemoje kitimą atipinių antipsichotikų risperidono ir kvetiapino poveikyje ir nemedikamentinių terapijos metodų - elektros impulsų terapijos bei metaglosoterapijos - poveikyje taikant su įvykiu susijusio potencialo P300 skaitmeninio registravimo ir kiekybinės analizės metodus. Klausos sukeltas P300 potencialas buvo registruojamas taikant „atsitiktinio įvykio“ principą trimis elektrodais (Fz, Cz ir Pz). Buvo matuojami 4 sukeltojo potencialo P300 parametrai: N2 latencija, P300 latencija, P300 amplitudė ir reikšmingo dirgiklio atpažinimo laikas. Darbo rezultatai parodė, kad SĮSP parametrai yra jautrūs informacijos apdorojimo klausos sistemoje procesų pažeidimo šizofrenijos spektro sutrikimų atveju rodikliai. Didesnę teigiamą įtaką klausos sukeltajam potencialui P300 turėjo atipinis antipsichotikas kvetiapinas. Nemedikamentiniai psichikos sutrikimų gydymo metodai nenusileidžia efektyvumu gerinant pacientų kognityviąsias funkcijas medikamentinei terapijai atipiniais antipsichotikais.

Darbe atlikta teorinė vaikų, pasižyminčių autizmo spektro sutrikimais, pažinimo ir individualaus ugdymo galimybių analizė. Iškelta hipotezė, tikėtina, kad tėvai ir pedagogai vaikams, pasižymintiems autizmo spektro sutrikimais, labiausiai vertina individualų ugdymą. Anketinės apklausos metodu atliktas tyrimas, kuriuo siekama išsiaiškinti vaikų, pasižyminčių autizmo spektro sutrikimais, individualaus ugdymo poreikį bei patikrinti bendrųjų mokyklų mokytojų ir įvairių sričių specialistų (pediatrų, neurologų, psichologų, psichiatrų) žinias apie autistiškus vaikus. Atlikta statistinė duomenų analizė. Tyrime dalyvavo 107 specialieji pedagogai – logopedai, 42 tėvai, 4 bendrojo lavinimo mokyklų pradinių klasių mokytojų, 15 mokytojų dalykininkų, 5 pediatrai, 0 neurologų, 13 psichologų, 18 kitų specialistų. Empirinėje dalyje nagrinėjami tėvų ir pedagogų dažniausiai pasirenkami ir specialistų rekomenduojami vaikų, pasižyminčių autizmo spektro sutrikimais, ugdymo metodai bei priimtiniausios ugdymo formos. Svarbiausios empirinio tyrimo išvados:  Pediatrams labai trūksta žinių tiek apie autizmą, tiek apie ugdymo metodus, taikomus vaikams, pasižymintiems autizmo spektro sutrikimais, ugdyti, o jie pirmieji turėtų pastebėti autizmo bruožus.  Dauguma pedagogų vaikams, pasižymintiems autizmo spektro sutrikimais, ugdyti rašo individualias programas, bet dirba su jais bendrai klasėje.  Tiek tėvai, tiek pedagogai pageidautų, jog vaikai, pasižymintys autizmo spektro sutrikimais, būtų ugdomi... [toliau žr. visą tekstą] / Theoretical work has been done for children with all autism spectrum disorders, cognitive and educational opportunities for individual analysis. Hypothesis, that parents and teachers of children with all autism spectrum disorders, the most appreciated by the individual education. The questionnaire survey method, which wants to find out about children with all autism spectrum disorders the individual educational needs, check the general education teachers and various professionals (pediatricians, neurologists, psychologists, psychiatrists) knowledge about autistic children. Carried out in statistical data analysis. The study included 107 special educators - speech therapists, 42 parents, 4 secondary schools, primary school teachers, 15 general education teachers, 5 pediatricians, 0 neurologists, 13 psychologists and 18 other professionals. The empirical paragraph dealt with the parents and educators are selected and recommended by specialists for children with all autistic spectrum disorders, education methods, preferred forms of education. The main empirical findings: - Pediatrician has a lack of knowledge about autism and the methods of education for children with all autism spectrum disorders, to educate, but they should be the first to find out autistic traits. - The majority of teachers write individual programs for children with all autism spectrum disorders, but generally they work at the same time with whole class children. - Parents and teachers want that the... [to full text]

Diagnosis of fetal alcohol spectrum disorders (FASD) is challenging and typically requires confirmation of in utero alcohol exposure. Due to the poor reliability of maternal self-reports, biomarkers have emerged to address the problem of obtaining exposure history. A relatively novel method for detecting prenatal alcohol exposure is analysis of meconium for fatty acid ethyl esters (FAEEs), which are non-oxidative ethanol metabolites. Screening newborns using meconium FAEEs may facilitate early diagnosis and intervention in alcohol-affected individuals. The overall objective of this thesis is to further investigate, validate, and assess the clinical utility of meconium FAEE analysis as a screening tool for the identification of neonates at-risk for FASD. This objective was addressed in four separate studies. The first study assessed whether meconium FAEE concentrations can be predictive of ethanol-induced organ injury in fetal sheep, and determined that the levels of these esters could be used to identify fetuses at-risk for organ dysfunction that do not display overt physical signs of ethanol teratogenicity. The second study investigated the effect of delayed meconium collection and contamination with postnatal stool on FAEE analysis, and determined it to be a risk factor for false positive test results. In the third study, maternal willingness to partake in an open meconium screening program was assessed and found to be low enough to diminish the utility of meconium FAEE testing for population-based open screening. Lastly, a systematic review examining the capacity for FAEE synthesis and the enzymology of this non-oxidative metabolic pathway in mammalian organs and tissues revealed that FAEE synthesis is mediated by numerous enzymes and isoenzymes, many of which have other primary physiological functions, and that their contribution to overall FAEE-synthesis may be tissue-specific. Overall, the results of this research provide new information on the benefits, limitations, and utility of meconium FAEE testing as a screening tool for identifying prenatal alcohol exposure − a test that may be of great clinical value in the diagnosis and management of FASD.