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Children and adolescents with autism spectrum disorder (ASD) and/or Intellectual/Developmental Disability (IDD) are at greater risk of developing comorbid medical conditions, mental health diagnoses, behavioral challenges, and having overall poorer physical and mental health outcomes. Hospital environments present unique stressors and challenges for children and adolescents with ASD/IDD including a change in familiar environment, unpredictable routines, and exposure to sensory stimuli that may be overwhelming. While many school boards have specialized multi-disciplinary special needs support teams and services made up of professionals with expertise in supporting students with ASD/IDD, most hospitals do not have a formal multi-disciplinary ASD/IDD support team in place to support patients, families, and health care staff across the hospital. There is an emerging recognition of the need for specialized multi-disciplinary developmental-behavioral and mental health expertise in hospital inpatient settings. This paper describes the framework for the development of an innovative multi-disciplinary program to better support children and adolescents with ASD/IDD within a tertiary children’s hospital setting.

Background Children and youth with autism spectrum disorder (ASD) may manifest self-injurious behaviors (SIB) that may become severe and refractory with limited pharmacologic or behavioral treatment options. Here, we present the protocol of a prospective, mixed-methods study to assess the safety and efficacy of deep brain stimulation (DBS) of the nucleus accumbens (NAcc) for children and youth with ASD and severe, refractory SIB. Methods This is a prospective, single-center, single-cohort, open-label, non-randomized pilot trial of 6 patients. Participants will be recruited through specialized behavioral clinics with persistent severe and refractory SIB following standard and intensive interventions. Following NAcc-DBS, participants will be enrolled in the study for 12 months. The primary objectives of the study are safety and feasibility, assessed by rate of recruitment and identification of factors impacting adherence to follow-up and study protocol. Potential treatment efficacy will be assessed by changes in the Children’s Yale-Brown Obsessive-Compulsive Scale in ASD (CYBOCS-ASD), the Behavior Problems Index (BPI), the Inventory of Statements about Self-Injury (ISAS) and the Repetitive Behavior Scale-Revised (RBS-R) questionnaires. Additional clinical outcomes will be assessed, including measures of participant and caregiver quality of life, actigraph measurements, and positron emission tomography (PET) changes following DBS. Discussion This study will be the first to evaluate the effect of DBS of the NAcc on a pediatric population in a controlled, prospective trial. Secondary outcomes will improve the understanding of behavioral, neuro-imaging, and electrophysiologic changes in children with ASD and SIB treated with DBS. This trial will provide an estimated effect size of NAcc-DBS for severe refractory SIB in children with ASD in preparation for future comparative trials. Trial registration Registration on ClinicalTrials.gov was completed on 12 June 2019 with the Identifier: NCT03982888 .

This study provided sleep education to parents of children with autism spectrum disorder (ASD) to determine whether an individual or group format was more effective in improving sleep and aspects of daytime behavior and family functioning. Eighty children, ages 2–10 years, with ASD and sleep onset delay completed the study. Actigraphy and parent questionnaires were collected at baseline and 1 month after treatment. Mode of education did not affect outcomes. Sleep latency, insomnia subscales on the Children’s Sleep Habits Questionnaire, and other outcomes related to child and family functioning improved with treatment. Parent-based sleep education, delivered in relatively few sessions, was associated with improved sleep onset delay in children with ASD. Group versus individualized education did not affect outcome.

Background The Transition Clinic for Youth and Young Adults (TAY clinic) with ASD/IDD is a unique partnership between the Developmental Sector and Health care sector. Surrey Place Centre, St. Michaels Family Health Teams and Developmental Paediatrics work with families of adolescents and young adults ages 14-22 to help transition from paediatrics-based healthcare and developmental services to adult sectors using a structured approach to transition. This clinic was a pilot project over the past 5 years, and we are using a mix-methods study to evaluate the implementation of the clinic and its impact on the lives of TAY with IDD and their caregivers. Objectives To describe patient and caregiver characteristics, usage of clinic, transition goals stated and achieved, and level of support needed. Design/Methods Quantitative data was collected using standardized forms including demographics, transition planning goals, and dates of applications to critical services like Developmental Service Ontario and Ontario Disability Support Program. The frequency, intensity and duration of transition planning support provided in the clinic was documented, as well as involvement of crisis services, child protection services, networks of specialized care, and hospital admissions. Results To date, 94 families have been supported through this clinic, with notable differences in the intensity and type of services required. Families were evenly distributed across three levels of transitional support need: (1) required consultation only; (2) required short-term intervention and follow up from the team with future crisis planning; and (3) families with extreme complexity, disconnected from the developmental sector and requiring intensive support and, at times, crisis care. In this 3rd group, 30% were regular emergency and crisis service users because of significant risk of harm or death to client or caregiver associated with physical or mental health concerns, and 15% were at risk of homelessness. Barriers to social determinants of health (e.g., housing, food security, social support) and inequities (based on race, immigration status, employment, English language proficiency) were present in all cases. Across all 3 groups, trajectories within the current systems of care were often apparent years before their transition. Conclusion Cross-sector models of care are feasible for TAY with IDD. This model of care identified different levels of need for TAY with IDD. Barriers to transition support are rooted in inequities and are often present years prior to transition. Paediatricians can help with earlier identification of families who require and deserve more comprehensive support.

Creatine deficiency syndrome (CDS) comprises three separate enzyme deficiencies with overlapping clinical presentations: arginine:glycine amidinotransferase (GATM gene, glycine amidinotransferase), guanidinoacetate methyltransferase (GAMT gene), and creatine transporter deficiency (SLC6A8 gene, solute carrier family 6 member 8). CDS presents with developmental delays/regression, intellectual disability, speech and language impairment, autistic behaviour, epileptic seizures, treatment-refractory epilepsy, and extrapyramidal movement disorders; symptoms that are also evident in children with autism. The objective of the study was to test the hypothesis that genetic variability in creatine metabolism genes is associated with autism. We sequenced GATM, GAMT and SLC6A8 genes in 166 patients with autism (coding sequence, introns and adjacent untranslated regions). A total of 29, 16 and 25 variants were identified in each gene, respectively. Four variants were novel in GATM, and 5 in SLC6A8 (not present in the 1000 Genomes, Exome Sequencing Project (ESP) or Exome Aggregation Consortium (ExAC) databases). A single variant in each gene was identified as non-synonymous, and computationally predicted to be potentially damaging. Nine variants in GATM were shown to have a lower minor allele frequency (MAF) in the autism population than in the 1000 Genomes database, specifically in the East Asian population (Fisher’s exact test). Two variants also had lower MAFs in the European population. In summary, there were no apparent associations of variants in GAMT and SLC6A8 genes with autism. The data implying there could be a lower association of some specific GATM gene variants with autism is an observation that would need to be corroborated in a larger group of autism patients, and with sub-populations of Asian ethnicities. Overall, our findings suggest that the genetic variability of creatine synthesis/transport is unlikely to play a part in the pathogenesis of autism spectrum disorder (ASD) in children.

Abstract Background Screening is important for early identification of children with autism spectrum disorder (ASD), potentially leading to earlier intervention. Research has identified some barriers to early identification of ASD, however, information about ASD screening in Canadian general paediatric practice is lacking. Objectives The aim of the study is to better understand ASD screening practice patterns by examining the use of ASD and general developmental screening tools by general paediatricians. Methods The research team conducted a cross-sectional survey of general paediatricians. Results Two-hundred and sixty-seven paediatricians responded and 132 were eligible for the study. Ninety-three per cent of the responders used a developmental screening tool. Eighty-five per cent of the responders used an ASD screening tool when there were concerns for ASD, and 15% never used one. The most commonly used ASD screening tool was the M-CHAT. Children suspected of having ASD were referred to specialists not only to confirm the diagnosis but also to facilitate access to resources. General paediatricians were keen to incorporate formal ASD screening tools in their practice but identified the need for clearer guidelines. Conclusion Previous studies have shown that children at risk of ASD continue to be missed through developmental surveillance and targeted screening. Paediatricians are interested in implementing an ASD screening tool and cite brevity and forms that can be completed by parents as factors that would support the use of a screening tool. Clearer guidelines and tools to support ASD screening and access to resources are needed.

This study examined motor behaviors in a longitudinal cohort of infant siblings of children with autism. Stereotypic movements and postures occurring during standardized observational assessments at 12 and 18 months were coded from videotapes. Participants included eight infant siblings later diagnosed with autism spectrum disorder (ASD), a random sample of nine non-diagnosed siblings, and 15 controls. Videos were coded blind to diagnostic group. At 12 and 18 months the ASD group \"arm waved\" more frequently and at 18 months, one posture (\"hands to ears\") was more frequently observed in the ASD and non-diagnosed group compared to the controls. Overall, the siblings subsequently diagnosed with ASD and the comparison groups had considerable overlap in their repertoires of stereotyped behaviors.

Despite recognition of the importance of parent involvement to enable meaningful inclusion of young children with developmental disabilities in education contexts, few Canadian studies have reported how parents experience this collaboration. Recent research suggests that the transition process is critical to the early school experiences of children with developmental disabilities yet challenging for their parents. The purpose of this paper is to report preliminary data from HELPS Inc, a Canadian multi-method research project describing Health, Education, and Learning Partnerships Promoting Social Inclusion of young children with developmental disabilities. In this paper we present parents' perspectives on inclusion and collaboration with case study findings based on the experiences of three families in one Ontario community. The data demonstrate the unique experiences of and meanings of collaboration held by individual families, and highlight the challenges these differences pose for healthcare providers and educators committed to involving parents in the transition into school and for inclusion of young children with developmental delays and disabilities.