Abstract Background: There is wide variability in the phenotypic manifestation of autism spectrum disorder (ASD). Recognizing autistic traits behind socio-emotional and adaptive problems in children with normal cognitive level can therefore be challenging. Aims and methods: The purpose of this study was to find tools for recognition of autism traits for clinicians working in primary/secondary settings. Two internationally used and empirically valid quantitative screeners, the Autism Spectrum Screening Questionnaire (ASSQ) and the Social Responsiveness Scale (SRS), were translated into Finnish and evaluated among high-functioning elementary school-aged children. An epidemiological target population of 8-year-old children (N=4,408) including 28 children with ASD was rated by parents and teachers using the ASSQ in order to assess cut-off scores for the Finnish ASSQ, and sensory abnormalities (SA) were determined in order to estimate the prevalence of SAs, and to investigate associations between sensory-perceptual problems and quantitative autism traits (QAT). The SRS was evaluated in a clinical ASD case (N=44)-control (N=44) study. It was also studied whether QAT of family members were associated with child QAT using the SRS. Results: Collecting parent and teacher ASSQ ratings and a cut-off of summed 30 points are recommended for ASD diagnostic assessments. The Finnish SRS was able to differentiate children with ASD from a normative child sample. The prevalence of SAs was 8% in the general population and 54% in the ASD sample. Tactile, auditory and olfactory hypersensitivities were associated with an elevated risk for an ASD diagnosis and auditory hypersensitivity explained the variance in the ASSQ scores among the ASD sample. In the normative sample, mother-child SRS QAT were more strongly associated, whereas in the ASD sample, a stronger positive correlation was found between father and child SRS QAT. Conclusions: In ASSQ screening, it is essential to collect both parent and teacher assessments. The SRS offers valuable information for determining the focal points of rehabilitation and evaluating treatment outcome. The SAs of the child as well as high QAT levels of male family members are indicators of an elevated risk for ASD. / Tiivistelmä Tausta: Autismikirjon häiriön kliininen oirekuva vaihtelee henkilöstä toiseen. Tästä johtuen autististen piirteiden tunnistaminen lapsen sosioemotionaalisten ja sopeutumisvaikeuksien taustalta voi olla haasteellista. Tavoitteet ja menetelmät: Tutkimuksen tarkoituksena oli etsiä kognitiivisesti hyvätasoisten peruskouluikäisten parissa työskenteleville kliinikoille apukeinoja autististen piirteiden tunnistamiseen. Kaksi kansainvälisesti käytettyä seulontamittaria, Autismikirjon seulontalomake (ASSQ) ja Sosiaalisen vastavuoroisuuden arviointiasteikko (SRS), käännettiin suomeksi ja niiden psykometrisiä ominaisuuksia arvioitiin. Lisäksi tutkittiin, olivatko aistipoikkeavuudet tai vanhempien autistismipiirteisyys yhteydessä peruskouluikäisen lapsen autismipiirteisyyteen. Vanhemmat ja opettaja täyttivät ASSQ:n 8-vuotiaista epidemiologisen kohderyhmän lapsista (N=4408), joista 28:lla oli autismikirjon häiriö, ja kohderyhmän lasten aistipoikkeavuudet kartoitettiin. ASSQ:n seulontarajat sekä aistipoikkeavuuksien esiintyvyys ja yhteys autismipiirteisyyteen määritettiin. SRS evaluoitiin ja perheen sisäisen autismipiirteisyyden vertailu tehtiin kliinisessä autismikirjo (N=44)-verrokki (N=44)-aineistossa. Tulokset: Vanhempien ja opettajan ASSQ-arviointien yhteenlaskettu pistemäärä 30 oli parhaiten toimiva seulontaraja autismikirjon häiriön diagnostisia tutkimuksia varten. SRS erotteli autismikirjon lapset normiaineistosta. Aistipoikkeavuuksien esiintyvyys kokonaisväestössä oli 8 % ja autismikirjon lapsilla 54 %. Tunto-, kuulo- ja hajuyliherkkyys olivat yhteydessä kohonneeseen autismikirjon häiriön riskiin ja kuuloyliherkkyys selitti autismipiirteisyyden vaihtelua autismikirjon lapsilla. Normiaineistossa lapsen ja äidin autismipiirteisyys olivat vahvemmin yhteydessä toisiinsa, kun taas autismikirjon lasten perheissä lapsen ja isän autismipiirteisyys olivat vahvemmin yhteydessä toisiinsa. Päätelmät: ASSQ-arvioinnissa on ensiarvoisen tärkeää kerätä tietoa lapsen käyttäytymisestä sekä koti- että kouluympäristöstä. SRS on käyttökelpoinen määriteltäessä kuntoutuksen painopistealueita ja kartoitettaessa sen vaikuttavuutta. Lapsen aistipoikkeavuudet sekä hänen miespuolisten perheenjäsentensä vahva autismipiirteisyys viittaavat autismikirjon häiriön mahdollisuuteen.

Autism spectrum disorder (ASD) is a lifelong developmental disability that affects all ethnic groups and is twice as frequent among boys than girls. The Centers for Disease Control and Prevention stated that 1 in 68 children are diagnosed with ASD. Despite guidance from the American Academy of Pediatrics and clinical evidence that suggests that ASD can be diagnosed as early as 24 months of age, most diagnoses occur at age 4 or even later, resulting in fewer opportunities for children to receive early ASD treatment and help them reach the best outcome possible. There is limited information about the appropriate referral practices adopted by pediatricians, the accuracy of ASD testing tools, and ASD studies conducted among the Latino children. The purpose of this study was to examine the associations between age of diagnosis and the screening/referral practices of doctors. Data from the 2011 Pathways Survey (N = 134) were analyzed with bivariate and multivariate statistics, including chi-square with cross-tabulation and multinomial logistic regression. No statistically significant associations were found among the dependent variable “age when the parent was told by a doctor that child had ASD,” and the independent variables “pediatrician conducted screening” (p > 0.05), “pediatrician conducted screening after parent had a developmental concern” (p > 0.05), and “doctor referred the child to a specialist after parent had a developmental concern” (p > 0.05). The results should be interpreted with caution due to the small sample size of Hispanic children with ASD diagnoses in the dataset. Additional studies are needed that can measure pediatrician screening patterns among the Hispanic/Latino children, thereby producing positive changes that can decrease associated morbidity and mortality among this population.

Young adults with autism transitioning from school to adulthood are commonly described as exhibiting poor outcomes. Although there has been research efforts measuring quality of life and life satisfaction in individuals with autism, these conceptualizations of well-being are still predominantly deficit-focused and based on normalizing ideals of the dominant culture. Only by incorporating individuals with autism’s perspectives and involving their meaningful participation in research can we better understand and promote well-being among individuals with autism. The present study aims to explore young adults with autism’s ideas about well-being. I conducted a Photovoice project using a participatory action research approach with 14 young adults with autism in a post-school transition program and their three instructors. Results revealed a broad sense of young adults with autism expressing their differences while having a strong desire to be connected with others. Specifically, three themes depicted young adults’ ideas of well-being in terms of (1) showing their self-expression, understanding, and strengths as well as exhibiting personal growth and learning, (2) having close relationships with their family, friends, and animals, and (3) developing different ways of engagement and connections with the community and environment. The research process itself also supported their experiencing of self-expression and forming connections with other people, which were integral to their well-being. The young adults intended to use the project results to present their personhood in a positive manner and to promote better understanding of autism in society. I drew from critical disability studies to discuss the findings in relation to the academic literature and inform advocacy work at a broader sociocultural level. This study has implications for researchers to conduct research that is ethically appropriate and sensitive to the needs of the autism community. Practitioners working with transition-age youth with autism can also draw upon from this study to reflect on their relationships and engagement with these youth to better support their well-being.

L’inclusion scolaire des enfants en situation de handicap devient une priorité des politiques éducatives. Les enfants ayant un Trouble du Spectre de l’Autisme (TSA) sont donc concernés par ces transformations. Cette thèse qui s’inscrit dans le champ de la psychopathologie développementale poursuit un double objectif. D’une part, il s’agit d’analyser les trajectoires développementales d’enfants ayant un TSA scolarisés dans le cadre d’un dispositif innovant d’inclusion (étude 1). D’autre part, il s’agit d’évaluer les effets de deux interventions de médiation par les pairs, appliquées dans le cadre de la théorie socio-constructiviste du développement, et mises en œuvre en situation de jeu symbolique (étude 2) ou de travail sur une tablette numérique (étude 3). Au total, 18 enfants ayant un TSA et 26 au développement typique ont pris part à cette thèse. Après deux ans de suivi longitudinal, les résultats de l’étude 1 montrent que les enfants ayant un TSA progressent sur le plan du développement cognitif et socio-communicatif, et ce malgré une importante variabilité interindividuelle. L’ampleur des progrès réalisés par les enfants est associée à plusieurs facteurs tels que l’âge chronologique, le niveau de fonctionnement intellectuel non-verbal et le niveau de langage. Les résultats des études 2 et 3, quant à eux, montrent que d’entraîner les enfants typiques à interagir avec leurs camarades ayant un TSA peut avoir des effets bénéfiques sur les compétences socio-communicatives de ces derniers. Chez tous les enfants typiques, une augmentation du nombre de conduites de tutelle est également observée suite à la mise en œuvre de l’intervention. Cela ouvre des perspectives prometteuses en termes de pratiques éducatives susceptibles d’être mises en œuvre en milieu scolaire pour favoriser l’inclusion des élèves ayant un TSA. / Inclusive education of children with disabilities becomes a priority of educational policies. Children with Autism Spectrum Disorder (ASD) are therefore concerned by these transformations. This thesis which falls in the developmental psychopathology research field pursues a dual objective. On the one hand, we examined the developmental trajectories of children with ASD who attended a new inclusive classroom (study 1). On the other hand, we evaluated the effect of two peer-mediated interventions, applied within the socio-constructivist framework, and implemented in symbolic play setting (study 2) or during academic activities on digital tablet (study 3). 18 children with ASD and 26 children with typical development were involved in this thesis. After two years of follow-up, results of the study 1 showed that children with ASD significantly progress in terms of cognitive and socio-communicative skills. However, a large variability between children was also noted. The extent of children’s progress was associated with several factors such as chronological age, non-verbal intelligence and language abilities. Results of the studies 2 and 3 showed that train typical peers about the way to interact with their ASD buddies can improve socio-communicative skills of children with ASD. All typical participants also demonstrated an immediate increase in the number of tutoring behaviors after the introduction of the intervention. These results open promising perspectives in terms of educational practices that could be implemented in school setting to promote inclusion of students with ASD.

Uma série de estudos na literatura vêm demonstrando a necessidade de intervenções voltadas para adultos portadores do transtorno do espectro do autismo, cuja situação de exclusão social somadas às necessidades crescentes do mundo atual de flexibilidade e engajamento podem levar a problemas emocionais, como ansiedade e depressão. O foco deste estudo foi baseado em funções executivas (FEs) real-world, isto é, focado no funcionamento diário bemsucedido e adaptativo. Este estudo pretendeu: 1) apresentar uma revisão bibliográfica para melhor compreensão do desenvolvimento das FEs em indivíduos com TEA; 2) apresentar uma intervenção neurodesenvolvimental global, o método Ramain; 3) apresentar como ilustração um estudo longitudinal de caso de 4 anos e 6 meses de intervenção (1 sessão semanal de 2 hr e 30 min) e de follow-up de 2 e 5 anos, relativo a um jovem adulto portador de TEA atendido por meio desse método. O método buscou ativar as FEs e mobilizar simultaneamente as funções cognitivas, motoras, emocionais e sociais. Concluiu-se através de observação de duas escalas e de marcadores de ganho de autonomia tanto em espaço terapêutico, como na vida cotidiana (por meio dos relatos de pais e profissionais), que houve aprimoramento das FEs e uma evolução significativa na adaptabilidade, no desenvolvimento das habilidades psicossociais, da autonomia e na qualidade de vida desse adulto, o que abre a possibilidade do uso de intervenções globais em casos de indivíduos com TEA / Several studies in literature have indicated the need for interventions targeting adults with autism spectrum disorder, whose social exclusion, coupled with today\'s increasing needs for flexibility and engagement, may lead to emotional problems such as anxiety and depression. The focus of this study was based on real-world (EFs) executive functions, that is, focused on successful and adaptive daily functioning. The purpose of this study was to: 1) present a bibliographical review for better comprehension of the development of EFs in individuals with ASD; 2) present a global neurodevelopmental intervention, i.e., the Ramain method; 3) present, as an illustration, a longitudinal case study of 4 years and 6 months of intervention (1 weekly session of 2 hr and 30 min) and 2- and 5-year follow-up of a young adult ASD patient, through this method. The method sought to activate EFs and simultaneously mobilize cognitive, motor, emotional and social functions. It was concluded through the observation of two scales and markers of autonomy gain both in therapeutic space and in daily life (through reports of parents and professionals) that there was an improvement of EFs and significant evolution in adaptability, in the development of psychosocial skills, autonomy and quality of life of this adult, which opens the possibility of using global interventions in cases of individuals with ASD

Numerous research showed having a child with autism spectrum disorder (ASD) can affect families in many ways (Brace, 2009; DeGrace, 2004; Fantaroni, 2012). The primary types of impact include family relationship (spousal and sibling relationships), finances, and access to resources and services to assist with caring for the social, emotional and academic development of a child with autism (Grindle & Remington, 2014; Harper et al., 2013; Koydemir & Tosun, 2009; Ludlow, Skelly, & Rohleder, 2011; Montes & Cianca, 2014). While extensive studies have shown similar findings of the impact of autism on family quality of life in America and other places in the world, such as Africa, East of England and London, Jamaica, Toronto and Turkey, limited or no research has shown the impact of autism on family quality of life in The Bahamas. This study expands those findings and identifies parent perceptions of the quality of life for a family raising a child or children with ASD in The Bahamas. The purpose of this study was to identify parent perceptions of the quality of life for a family raising a child with autism spectrum disorder (ASD) in The Bahamas. This study employed the Beach Center on Disability (2006) Family Quality of Life Survey to collect data from a purposive and chain sample of 56 parents raising a child with autism spectrum disorder in The Bahamas. The data from the survey was statistically analyzed using descriptive statistics such as means, standard deviations, skewness, kurtosis, and correlation, and inferential statistics such as multiple regression, and coding for the four open-ended questions. The results of this study revealed the family quality of life for parents raising a child with ASD in The Bahamas was overall satisfactory with family interactions, parenting, and physical/material well-being being the areas of most satisfied, while emotional well-being and disability-related support were the least satisfied. The predictors for parenting, and emotional well-being were statistically significant for severity level, and educational level, respectively. The predictors for parenting a child with mild (p = 0.01) or moderate (p = 0.05) autism were higher than raising a child with severe autism. The predictor for emotional well-being for families with mother/guardian’s education level of a bachelor’s degree were the highest predictor and was statistically significant (p = 0.02). However, the predictor for emotional well-being for families with father/guardian’s education level of a bachelor’s degree was lower than father/guardian’s education level of a graduate/professional degree, which was statistical significant (p = .03). The correlation analysis revealed there was a positive and strong relationship between family interactions and physical/material well-being (p = .0003), and a positive and strong relationship between physical/material well-being and disability-related support (p = .0001). Emotional well-being and disability-related support also had a positive and strong relationship (p = .0001), and emotional well-being and physical/material well-being also had a positive and strong relationship (p = .0001). Educational workshop was identified as the dominant resources, but many indicated the lack of available resources. Evidence-based intervention (applied behavior analysis, speech therapy, occupational therapy) were identified as intervention/therapy services received, but most indicated the lack of available intervention/therapy, financial distress paying for these services, and dissatisfaction seeking resources and intervention services for their child with ASD. This study was significant as it highlighted and added to the knowledge relevant to parent perceptions of family quality of life raising a child with ASD. Identifying these perceptions would be useful toward improving services for families of children with ASD in The Bahamas. In addition, information gathered would assist in further development of effective programming initiatives specific for this population.

Recent research has investigated the prevalence of gross motor deficits in children diagnosed with Austim Spectrum Disorder (ASD), however these studies typically utilize the Bruininks-Oserestsky Test of Motor Proficiency, the Movement Assessment Battery for Children, the Peabody Developmental Motor Scales, or the Test of Gross Motor Development for assessment. These scales are expensive, require specialized equipment, are difficult to administer, and contain numerous test items that lead to long test administration times. The current research applied the Charlop-Atwell Scale of Motor Coordination to measure gross motor function deficits in children with autism and compared the data against scores from neurotypical children to determine the degree of delay of motor development. The Charlop-Atwell scale proved to be an effective measure of motor deficits and the study had high interobservor reliability. Children with ASD scored significantly lower than neurotypical children half their age on the objective subtest and total scale score. Looking at scores on separated test items, individual motor deficits were identified and results can be referred to an occupational or physical therapist for remedial treatment program development.

Homeostasis is an indispensable phenomenon in the maintenance of living organisms. Genetic defects which disrupt negative feedback processes can impact homeostatic regulation, potentially resulting in disease. To uncover the molecular mechanisms governing these and other diseases potentially related to defective homeostasis, I used the Drosophila neuromuscular junction as a model system. I characterized two potential mechanisms that regulate homeostasis within the nervous system. First, in Drosophila larval motor neurons, ligand activation of Drosophila metabotropic glutamate receptor A (DmGluRA) mediates a Phosphoinositide 3-kinase (PI3K)-dependent downregulation of neuronal activity, but the mechanism by which mGluR activates PI3K remains incompletely understood. Here, I identified Ca 2+ /Calmodulin-dependant protein kinase II (CaMKII) and the Focal adhesion kinase (DFak) as critical intermediates in the DmGluRA-dependent activation of PI3K at Drosophila motor nerve terminals. I found that transgene-induced CaMKII inhibition or the DFak CG1 null mutation each block the ability of glutamate application to activate PI3K in larval motor nerve terminals, whereas transgene-induced CaMKII activation increases PI3K activity in motor nerve terminals in a DFak-dependent manner, even in the absence of glutamate application. I conclude that the activation of PI3K by DmGluRA is mediated by CaMKII and DFak. Second, I observed that Push, a putative E3-ubiquitin ligase and Ca 2+ /Calmodulin binding protein, regulates both neurotransmitter release and retrograde signaling in the Drosophila neuromuscular junction. I found that RNAi-mediated Push inhibition in the neuron increases but, in the muscle decreases, neurotransmitter release. Similar results were obtained from RNAi knock down of PLCβ and IP3R, which mediates Ca 2+ release from the endoplasmic reticulum. I conclude that Push mediation of the ubiquitin proteasome system may be important in the regulation of PLCβ/IP3R-mediated intracellular Ca 2+ release, and that this Ca 2+ release in the neuron inhibits neurotransmitter release, but in the muscle activates neurotransmitter release via a retrograde signal.

Activation of the maternal immune system and resultant maternal cytokine expression due to prenatal infection has been implicated as a significant contributor to the pathology of neuropsychiatric and neurodevelopmental disorders such as schizophrenia and Autism Spectrum Disorder (ASD). Increased maternal interleukin-6 (IL-6) expression, observed clinically and in animal models of prenatal infection, and resultant activation of key signaling pathways, has been shown to be a biological indicator of pathology, and a central component of the pathological mechanism. In animal models of prenatal infection and clinically in pregnancy disorders hallmarked by immunological irregularities and increased IL-6 expression, inhibition of IL-6 has been shown to reduce pathological symptoms both maternally and in the exposed offspring. This study aims to demonstrate the ability of IL-6 expression, resulting from prenatal infection, to induce neuropathological and behavioral outcomes that mirror clinical observations seen in disorders such as ASD. More importantly, it shows how flavones luteolin and diosmin, a subclass of the flavonoid family, through inhibition of IL-6 mediated activation of Signal Transducer and Activator of Transcription-3 (Stat3) can reduce these pathologies both in vitro and in vivo. Evidence suggests that flavonoids, a polyphenolic class of naturally occurring plant secondary metabolites, are potent anti-inflammatory agents that can attenuate the expression of cytokines such as IL-6, possibly through the modulation of tyrosine kinase activity. They have been shown to have significant therapeutic potential in disorders hallmarked by increased inflammation or disruptions in immune regulation, such as neurodegenerative disorders and certain cancers. Members such as diosmin have also been shown to be safe during pregnancy, and are currently utilized in the treatment of certain vascular disorders associated with pregnancy. In vitro work undertaken in this study showed that co-administration of luteolin with IL-6 in neural stem cells (NSC) was able to attenuate pathological outcomes induced by IL-6 including aberrant proliferation, over expression of astroglial marker, glial fibrillary acidic protein (GFAP) and changes in cellular morphology. In vivo studies involving luteolin and diosmin further confirmed the therapeutic efficacy of these compounds as similar attenuation of IL-6 mediated maternal and fetal pro-inflammatory cytokine expression and abnormal behaviors in prenatally exposed offspring was observed. Mechanistically, these effects were mediated through inhibition of Stat3 activation although other pathways activated by IL-6 were modulated by flavone co-treatment. Flavonoid treatment during periods of prenatal infection may prove to be a therapeutic intervention for the resultant pathological outcomes seen in offspring through attenuation of the maternal and fetal immune response to infection as well as modulation of signaling pathways in the fetal brain. These compounds may prove therapeutically efficacious for the application in perinatal conditions hallmarked by increased inflammation during pregnancy.

The effects of a video modeling intervention, given to six children with ASD, were evaluated through a multiple-baseline and multiple-probe design across children. The research targeted teaching children with ASD to assertively respond to physical bullying, verbal bullying, and social exclusion, as well as telling one’s mother. In baseline, the participants demonstrated inconsistent to no skills for responding to the bullying in the vignette movies (SAAS) and the generalization probe skits. During intervention the participants watched a video of a person assertively responding to bullying, and were assessed through VM questions and SAAS. Post-intervention the children participated in generalization probe skits. The researcher and a blind rater scored the participants’ responses using a four-point scale. A pre-intervention survey of bullying was also given to the parents to assess their child’s victimization. The results showed that video modeling effectively taught all of the participants to assertively respond to bullying and resulted in generalization for 4 of the 6 participants.