Background: Prevalence of metabolic disturbances is higher among individuals with neurodevelopmental disorders (NDDs), yet this association has been poorly studied. Investigation into human disease remains challenging, as a complete pathophysiological understanding relies on accurate modeling and highly controlled variables. As such, genetically engineered mouse models are increasingly used to gain insight into the biology of human NDDs, but preclinical research focus has been mainly on behavioral and neurophysiological abnormalities. Mouse models engineered to embody human-equivalent genetic variations can display discrepancies to human phenotypes, therefore a thorough characterization of mouse phenotypes must be conducted in order to evaluate how accurately a mouse model embodies a human phenotype. Also, mouse models can help discover unsuspected abnormalities that can be further validated in humans. Objective: In this study, we sought to investigate the metabolic alterations derived from NDD-associated genetic polymorphisms in previously-validated genetic mouse models. Due to the similarities in NDD-associated phenotypic expression, we hypothesized that our NDDs of interest would express similar metabolic signatures. Further, we anticipated that we might uncover unknown metabolic anomalies, and that sex may alter these differences. Methods: We used the Comprehensive Lab Animal Monitoring System coupled to EchoMRI, as well as quantification of key plasma metabolites by liquid chromatography-mass spectrometry to characterize and compare basal metabolism in three mouse models of NDDs, namely Down syndrome (Dp(16)Yey/+ mice), 16p11.2 deletion syndrome (16p11.2df/+ mice) and Fragile X syndrome (Fmr1-/- KO mice) and their wild-type (WT) counterparts. Results: Our study reveals that each mouse model expresses a unique metabolic signature that is sex-specific, independent of the amount of food consumed and minimally influenced by physical activity. We found striking differences in body composition, respiratory exchange ratio, caloric expenditure and concentrations of circulating plasma metabolites related to mitochondrial function. Conclusion: Providing novel insight into NDD-associated metabolic alterations provides a basis for future studies aimed at understanding physiological mechanisms and provides a point of reference for research aimed at detecting changes in response to intervention.

Elever med neuropsykiatriska funktionsvariationer (NPF) upplever en försämrad skolgång på grund av att den är dåligt anpassad efter deras behov. Grundskolelärare har ett ansvar att anpassa sin undervisning så den passar alla, men deras ökade belastning lämnar lite tid över till att kommunicera med sina elever på individnivå för att ta reda på deras behov. Den bristande kommunikationen mellan grundskolelärare och elever med NPF blir problematisk då parternas behov missförstås av varandra. Denna studie undersökte hur man genom produktdesign kan skapa en bättre kommunikation mellan elever med NPF och deras lärare. Studien genomfördes med teorier och metoder från forskningsfältet användarcentrerad design. Genom intervjuer, observationer, dokumentanalys, en ökad empatisk förståelse och marknadsundersökning skaffade studien en förståelse av användarnas behov och önskemål. En koncept- och produktutvecklingsfas möjliggjorde skapandet av ett slutgiltigt produktförslag. Studiens slutsats visar hur produktdesign i en användarcentrerad designprocess skapar en förståelse för en användargrupp och möjliggör ett produktförslag som tillfredsställer deras behov. Studien resulterade i ett produktförslag som kan förbättra kommunikationen mellan grundskoleelever med NPF och deras lärare. Produktförslaget kan förhoppningsvis leda till en bättre skolgång för elever med NPF om läraren gör anpassningar i sitt klassrum och/eller undervisning som tar hänsyn till elevens behov. Produktförslaget är endast ett förslag på hur en produktlösning kan se ut bland många andra möjliga lösningar. Studiens kunskapsbidrag bidrar med insikt i hur man genom produktdesign och en användarcentrerad designprocess kan utforska en användargrupp för att tillgodose deras behov. / Students with cognitive disabilities are unsatisfied with their lower school education because of poor adaption to their needs. Lower school teachers have a responsibility to adjust their way of teaching and classroom environment in order to fulfill everyone’s needs. But the abundant workload teachers experience leaves little time for individual communication with their students to find out their needs. This study examined how product design can create a better communication between lower school students with cognitive disabilities and their teachers. The study used theories and methods from the research field of user-centered design. The methods used were interviews, observations, analysis of documents, improvement of empathetic understanding and a market analysis. These enabled a better understanding of the users’ needs and desires. The study’s conclusion shows how product design in a user-centered design process can create a better understanding of a user group and a design-proposal that satisfies the users’ needs and desires. The study resulted in a design-proposal that can improve communication between lower school students and their teachers. The design proposal can potentially lead to an improved education for students with cognitive disabilities if the teacher adjusts their classroom environment and/or way of teaching with regards to their students’ needs. The design-proposal is merely a proposal among many other solutions of how a product solution could be made. The study contributes with research about how product design and a user-centered design process can examine a user group in order to satisfy their needs.

No description available.

Updated: Current version includes the name of Supervisor, and Co-supervisor. Error corrected in preliminary pages. / Background: Emerging evidence suggests that there is both within-disorder heterogeneity and across-disorder overlap in the clinical presentation of children with ASD, ADHD, and OCD. Two prevalent dimensional phenotypes in children with these NDDs that warrant close attention, and are suitable for cross-disorder investigation, are internalizing and externalizing problems. Objectives: The current study uses a data-driven, diagnosis-agnostic approach to identify homogenous clusters that describe behavioural profiles of internalizing and externalizing problems within and across ASD, ADHD, and OCD. Methods: Data on 1565 children (M = 10.76 years) were drawn from the Province of Ontario Neurodevelopmental Disorder (POND) Network. Non-hierarchical clustering approaches were used to empirically derive, distinct behavioural profiles of internalizing and externalizing problems indexed by the Child Behavior Checklist (CBCL). Empirically derived groups were characterized using measures of adaptive functioning indexed by the Adaptive Behaviour Assessment (ABAS-II), and interpreted in relation to original diagnoses. Results: Cluster analyses identified four distinct behavioural profiles that cut across all diagnostic groups: High Internalizing Externalizing (HIE; 15%), High Externalizing (HE; 21%), Low Internalizing Externalizing (LIE; 38%), and Low Externalizing (LE; 26%). Derived clusters had variable levels of adaptive behaviours and reflected different behavioural profiles than the ones defined by the original diagnostic category groups of ASD, ADHD, and OCD. Conclusion: Data-driven, diagnosis-agnostic approaches can inform our understanding of the between and within phenotypic heterogeneity seen in ASD, ADHD, and OCD. Empirical ways of classifying children with homogeneous behavioural profiles may complement existing diagnostic models in our efforts to develop cross-disorder, more personalized interventions for children with neurodevelopmental disorders. / Thesis / Master of Science (MSc) / ASD, ADHD, and OCD are heterogenous neurodevelopmental disorders (NDDs) with some overlapping clinical characteristics and etiological factors. Internalizing and externalizing behavioural problems persist across these three NDDs, and in this study, are used to identify unique behavioural profiles. Study findings reveal four groups with distinct behavioural profiles of internalizing and externalizing problems that are not identified by the original diagnostic groups. This empirical way of classifying children with similar behavioural profiles can be used in combination with diagnostic labels to enhance transdiagnostic interventions that can be tailored to each child’s needs.

Arbetstagare med en neuropsykiatrisk funktionsnedsättning (NPF), har ibland särskilda utmaningar som kan försvåra en anställning. Med rätt stöd och anpassning från chefen kan dessa individer dock ofta prestera på samma nivå som andra. För att se hur chefer ställer sig till medarbetare med en NPF-diagnos lyder forskningsfrågan: Hur ser chefers inställning ut gentemot arbetstagare med NPF? En kvalitativ intervjustudie genomfördes med sex deltagare som bestod av chefer inom offentlig- samt privat sektor. Intervjuerna bestod av 20 öppna frågor och analyserades genom tematisk analys. Huvudresultatet visade att deltagarna hade en relativt öppen inställning till att ha medarbetare med en NPF-diagnos, däremot återfanns fler faktorer som påverkade deltagarnas inställning, så som rädslor, kommunikation och bristande resurser. Slutsatsen visade att inställningen inte handlade om bristande vilja, utan svårigheter att veta hur man ska gå tillväga vilket implicerar vikten av ökade resurser i form av ökad kunskap och representation. / Employees with a neurodevelopmental disorder (NPF) can have specific challenges that can make employment more difficult. With the right support and accommodation from their manager, these individuals can often perform as well as others. To investigate how managers perceive employees with NPF, the research question reads: What are the managers' attitudes towards employees with NPF? A qualitative study was conducted with six participants. The participants consisted of managers from the public- as well as private sectors. The interviews consisted of 20 open-ended questions and were analysed using thematic analysis. The result indicated that the participants had a relatively open attitudes regarding employees with NPF, however it was recovered that it was more factors than the participants attitude for example fears, communication and lack of resources. The conclusion implies that the attitudes were not primarily about lacking will, but difficulties in knowing how to approach it, and implies the importance of knowledge and representation.

No description available.

In today’s society, neurodevelopmental disorders (NDDs) have been researched in different areas of life. However, what has yet to be explored broadly is the correlation between the characteristics of various neurodevelopmental disorders and their possible impact on a primary school student’s language learning, speaking development, and inclusivity in the English as a Foreign language (EFL) classroom. Additionally, the term neurodiversity is introduced as a shift in viewing disorders as solely deficits, but rather from a practical aspect that should be attended to positively.  This secondary data analysis aims to focus on what particular beneficial and problematic characteristics students with NDDs might experience. As well as, how these characteristics might affect language learning and speaking development in an EFL classroom. Since neurodevelopmental disorders is an abstract term with different disorders and characteristics, this analysis chose to further research Autism Spectrum disorder (ASD). This thesis attempts to answer and observe the impact Autism Spectrum disorder characteristics have in an EFL classroom. The results will provide three key findings. The first finding presents the strengths and challenges of ASD in English language learning. The second finding analyzes useful tools to help students with communication. The third and last finding will discuss the perception regarding the disorder and its effects in the inclusive classroom. Furthermore, the correlation between the research and the Swedish school institution, its laws, its curriculum, teachers’ impact, and a useful theoretical approach can be seen. Lastly, a thorough discussion regarding bilingualism, multilingualism, and its benefits will be delved into.

Diverse clinical presentation in neurodevelopmental disorders (NDDs) leads to difficulty in matching individuals with effective treatments. Autism spectrum disorders (ASD) and attention deficit hyperactivity disorder (ADHD) are the two most prevalent neurodevelopmental disorders (NDDs), characterized by deficits in communication, social interactions, and behaviours. There is high within-diagnosis heterogeneity and striking overlap between diagnoses. The literature suggests that current diagnostic criteria do not align well with behaviour metrics. Therefore, identifying novel biomarkers underlying behaviour in NDDs may provide a reliable way to group individuals with similar behavioural phenotypes. This thesis examines how gut-immune biology is linked to clinical heterogeneity in children with NDDs. The first study used unsupervised machine learning to cluster typically developing (TD), ADHD, and ASD participants by their behaviour metrics in a diagnosis-agnostic approach. The results produced a six-cluster solution, five of which were a mix of all diagnostic categories. Further, gastrointestinal (GI) symptoms were mapped to the clusters, revealing a link between constipation, social communication deficits and restrictive-repetitive behaviours. The second study used hierarchical clustering to group TD and NDD participants based on a profile of gut and inflammatory markers. Participants clustered into two biotypes, both containing TD and NDD participants. Additionally, using regression analysis, novel markers were linked to anxiety. The third study evaluated the multisite biospecimen collection protocol of the Province of Ontario Neurodevelopmental Disorders (POND) Network. The final study used biospecimens collected from the POND network to phenotype peripheral blood mononuclear cells in TD and NDD participants. In NDD groups, monocyte and B cell activation markers were differentially expressed compared to TD. Overall, this thesis demonstrates that gut-immune mechanisms contribute to clinical heterogeneity in a subset of people and contribute to the search for biomarkers in NDDs. / Thesis / Doctor of Philosophy (PhD) / Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are diagnosed based on behavioural symptoms. However, symptoms can vary a lot from person to person, and some symptoms are shared between ASD and ADHD. Understanding the biological reasons for symptom differences between people can help pinpoint treatments which work best for an individual. This thesis looks at the role of the gut and immune system in ASD and ADHD. Blood samples and behaviour questionnaires were collected to study how immune cells, inflammation, and intestinal permeability shape behaviour symptoms. The results show that diagnosis is not the most accurate way to group people. Anxiety symptoms were different when people were grouped based on their inflammation levels. Also, specific immune cells appear to work differently in people with ASD and ADHD. These findings clarify some of the biology that affects behavioural symptoms in ASD and ADHD.

Background: Autism and other neurodevelopmental disorders (NDD) are common in low- and middle-income countries (LMIC). However, services to address the needs of this group in LMIC are almost non-existent. The World Health Organization (WHO) developed the Caregiver Skills Training (CST) programme to be suitable for delivery in diverse global contexts. Ethiopia, the country of focus in this study, has a largely rural population and a lack of specialist service providers. Additional contextual challenges, including poverty, low literacy, limited access to healthcare and a lack of specialist child mental health services, may undermine the delivery of CST in this setting. This thesis, therefore, seeks to explore the acceptability and feasibility of non-specialist delivery of the WHO-CST from the perspective of providers and caregivers in rural Ethiopia. Methods: In Chapter one, a general literature review of neurodevelopmental disability and caregiver skills training is presented, with a focus on sub-Saharan Africa, to help contextualise the main qualitative study, outlined in chapter two. In-depth interviews were conducted with caregivers (n=19) who were all participants in two rural pilot studies of the WHO-CST programme. In addition, three focus group interviews were conducted with non-specialist facilitators (n=8), who facilitated the CST programme in two rural pilot tests. Data were analysed using the framework approach. Results: Findings were mapped onto the three framework themes created for this analysis: 1) Programme content: caregivers and facilitators uniformly indicated that the adapted programme addressed a need and was relevant for their context; caregivers emphasised how the programme helped them understand their child's problems and improve their skills to support their children; facilitators highlighted having acquired new knowledge and skills relating to NDD; 2) Programme facilitation: caregiver responses suggested that programme facilitation by non-specialists was acceptable; non-specialist facilitators emphasised the importance of support and supervision for the facilitators and simplification and modification of some concepts, such as the concept of play, and 3) CST training approach and delivery: participants indicated that the training modalities, including home visits and group training, were acceptable and feasible in the local context. Conclusions: This study suggested that, with some contextually appropriate modifications of programme content and delivery and continuing supervision of facilitators, the WHO-CST programme facilitated by non-specialists would be acceptable and feasible in rural Ethiopia. Results from this study may be useful to fine-tune the implementation of non-specialist delivery of the CST programme in Ethiopia, as well as other LMIC.

Neurodevelopmental disorders (NDD) refer to conditions that can be present during a child’s early developmental period, and are typically characterized by challenges in a child’s personal, social, academic, or occupational functioning. Autism spectrum disorder (ASD) is an example of NDD, impacting 1 in 66 children in Canada. While interventions vary across this heterogeneous group of impairments, everyday functioning is an important outcome to families. However, this concept of functioning needs further examination with respect to whether and how it is incorporated within the instruments and concepts used in family-centred services (FCS), and how this is understood by parents. This thesis is composed of two studies: a narrative review identifying function-focused measures published in the literature for children with NDD; and a qualitative study examining how parents of children with ASD perceive their child’s abilities in relation to family-centred services. Fourteen clinical measures were described in the review based on how they utilized the International Classification of Functioning, Disability, and Health (ICF) to describe child functioning. In the qualitative study, five themes (Parenting Approaches, Accepting My Child, Managing Child’s Challenges, Doing the Right Thing for My Child, and “The Disability Tag”) were identified as influential factors that can affect how parents perceive their child’s abilities and functioning. As the cultural shift within interventions for children with NDD continue to move beyond the historically prominent deficit-focused lens, and towards the integration of neurodiverse abilities, this study enables us to understand better how concepts of function-focused care are operationalized in family-centred services and intervention systems. / Thesis / Master of Science Rehabilitation Science (MSc) / To support the shift in health care that focuses on the abilities of children with neurodevelopmental disorders (NDD) rather than their ‘problems’ or ‘deficits,’ we need to further understand how family-centred services (FCS) can better fit this change in thinking. This thesis explores paediatric health care focused on addressing ‘everyday abilities’ for children with NDD in research and clinical practice over two studies. Study #1 reviews some of the current ways that everyday functioning is measured in paediatric health care, examining 14 clinical tools developed for children with NDD. Study #2 reports key patterns that describe the experiences of parents of children with autism, in regards to how they think about their child’s abilities, and the care their child receives. Overall, this thesis studied new ways that we can explore the abilities of children with NDD in FCS, specifically concerning how parents and clinicians describe and measure functioning.