Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.

Autism spectrum disorder (ASD) exhibits an ∼4:1 male-to-female sex bias and is characterized by early-onset impairment of social/communication skills, restricted interests, and stereotyped behaviors. Disruption of the Xp22.11 locus has been associated with ASD in males.

Longitudinal associations between autistic children's anxiety and social communication differences: The moderating role of executive function behaviours.

Anxiety is a mental health concern affecting many autistic children, and has been linked to greater differences in social communication and interaction style. Executive functioning (i.e.

Early-Onset Trajectories of Emotional Dysregulation in Autistic Children.

Objective: Emotional dysregulation (ED) is a common and debilitating problem for autistic children and their families. However, little is known about early-onset patterns of dysregulation, associated risk factors, and child and family outcomes. This study aimed to characterize trajectories of ED in an inception cohort of autistic preschoolers.

Early Results of Interventions in Patients with Venous Thoracic Outlet Syndrome.

Background: To determine the freedom from major complications and the efficacy, in the form of technical and clinical success, of different interventions in venous thoracic outlet syndrome (VTOS).

Methods: Data from 3 centers regarding patients aged between (18 and 60 years) with symptoms and signs of upper limb venous outflow obstruction was collected and analyzed to monitor outcome of different interventions.

Results: 23 patients (16 males) with mean age of 35 ± 9.

Parent-mediated intervention in infants with an elevated likelihood for autism reduces dwell time during a gaze-following task.

Cognitive markers may in theory be more sensitive to the effects of intervention than overt behavioral measures. The current study tests the impact of the Intervention with the British Autism Study of Infant Siblings-Video Interaction for Promoting Positive Parenting (iBASIS-VIPP) on an eye-tracking measure of social attention: dwell time to the referred object in a gaze following task. The original two-site, two-arm, assessor-blinded randomized controlled trial (RCT) of this intervention to increase parental awareness, and responsiveness to their infant, was run with infants who have an elevated familial likelihood for autism (EL).

Realist process evaluation of the knowledge translation programme of a patient-oriented research network.

Rationale: The Knowledge Translation (KT) Programme of a pan-Canadian strategic patient-oriented research network focused on brain-based developmental disabilities aimed to mobilize knowledge relevant to the network members. The programme also promotes and studies integrated Knowledge Translation (iKT) approaches involving different interested parties, such as researchers, patient-partners and decision-makers, in all parts of the knowledge creation process.

Aims And Objectives: The objective of this study is to advance research programme evaluation methods through a realist evaluation of the process of implementing iKT activities.

Allelic heterogeneity and abnormal vesicle recycling in -related neurodevelopmental disorders.

The human gene encodes Phospholipase-A2-Activating-Protein (PLAA) involved in trafficking of membrane proteins. Through its PUL domain (PLAP, Ufd3p, and Lub1p), PLAA interacts with p97/VCP modulating synaptic vesicles recycling. Although few families carrying biallelic variants were reported with progressive neurodegeneration, consequences of monoallelic variants have not been elucidated.

Alignment of Canada's COVID-19 policy response with barriers and facilitators for coping reported by caregivers of youth with developmental delays, disorders, and disabilities.

Introduction: The UNICEF-WHO Global Report on Developmental Delays, Disorders, and Disabilities is an ongoing initiative aimed at increasing awareness, compiling data, providing guidance on strengthening health systems, and engaging country-level partners. Data from its caregiver survey assessing impacts of the COVID-19 pandemic showed that half of youths with developmental delays and disabilities (DDDs) and their caregivers struggled to cope, with a significant portion reporting a lack of supports and difficulty managing the worsening of the child's symptoms in isolation. Governments created service strategies supporting vulnerable groups.

Symptoms and steroid dose adjustments following the Covid-19 vaccine in patients with adrenal insufficiency.

Background: A proportion of patients with adrenal insufficiency (AI) require increases in their maintenance glucocorticoids following the Covid-19 vaccine as a result of vaccine-related symptoms or development of incipient or frank adrenal crisis. In a large cohort of AI patients, we aim to characterise symptoms, changes in glucocorticoid dosage, occurrence of adrenal crises and whether there are differences between the mRNA and adenovirus vector vaccines.

Patients And Methods: Patients with AI of any aetiology were invited to complete a short, structured questionnaire of their experience of the Covid-19 vaccination.

Pediatric Vascular Surgery: A Review of Cases from a Dedicated Pediatric Vascular Surgery Clinic.

Background: The experience in pediatric vascular diseases is limited in the United Kingdom and worldwide due to their rarity and variations in practice. We looked at types of cases presenting to a dedicated pediatric vascular clinic.

Methods: Medical records of children seen in a dedicated pediatric vascular clinic at a tertiary referral service between 2016 and 2022 were reviewed.

EEG functional connectivity in infants at elevated familial likelihood for autism spectrum disorder.

Background: Many studies have reported that autism spectrum disorder (ASD) is associated with atypical structural and functional connectivity. However, we know relatively little about the development of these differences in infancy.

Methods: We used a high-density electroencephalogram (EEG) dataset pooled from two independent infant sibling cohorts, to characterize such neurodevelopmental deviations during the first years of life.

Cutaneous Leukocytoclastic Vasculitis Induced by Apixaban and/or Rivaroxaban With Seronegative Anti-Neutrophil Cytoplasmic Antibody (ANCA) Titers: A Case Report and Literature Review.

A 45-year-old man presented with a diffuse petechial rash and a non-blanching palpable purpura, mainly on his lower extremities, some of which had coalesced, blistered, and ulcerated. The patient had a history of hypercoagulability and was chronically on anticoagulant medication. The rash appeared a week after starting apixaban 5 mg twice daily by mouth.

How Did Governments Address the Needs of People With Disabilities During the COVID-19 Pandemic? An Analysis of 14 Countries' Policies Based on the UN Convention on the Rights of Persons With Disabilities.

Background: People with disabilities have experienced heightened social risks in the context of the pandemic, resulting in higher rates of infection and mortality. They have also borne elevated burdens associated with public health measures. The United Nations Convention on the Rights of Persons with Disabilities (UNCRPD) obliges its 184 state parties to eliminate discrimination and ensure equality and inclusion for persons with disabilities, including protection and safety in situations of emergency.

A longitudinal comparison of emotional, behavioral and attention problems in autistic and typically developing children.

Background: Mental health problems are elevated in autistic individuals but there is limited evidence on the developmental course of problems across childhood. We compare the level and growth of anxious-depressed, behavioral and attention problems in an autistic and typically developing (TD) cohort.

Methods: Latent growth curve models were applied to repeated parent-report Child Behavior Checklist data from age 2-10 years in an inception cohort of autistic children (Pathways, = 397; 84% boys) and a general population TD cohort (Wirral Child Health and Development Study; WCHADS; = 884, 49% boys).

Children with Disabilities in Canada during the COVID-19 Pandemic: An Analysis of COVID-19 Policies through a Disability Rights Lens.

Children with disabilities were especially vulnerable during the COVID-19 pandemic, and policies designed to mitigate its effects were limited in addressing their needs. We analyzed Canadian policies related to children with disabilities and their families during the COVID-19 pandemic to identify the extent to which these policies aligned with the United Nations Convention on the Rights of Persons with Disabilities (UN CRPD) and responded to their mental health needs by conducting a systematic collection of Canadian provincial/territorial policies produced during the pandemic, building a categorization dictionary based on the UN CRPD, using text mining, and thematic analysis to identify policies' alignment with the UN CRPD and mental health supports. Mental health was addressed as a factor of importance in many policy documents, but specific interventions to promote or treat mental health were scarce.

EEG functional connectivity in infants at elevated familial risk for autism spectrum disorder.

Background: Many studies have reported that autism spectrum disorder (ASD) is associated with atypical structural and functional connectivity. However, relatively little is known about the development of these differences in infancy and on how trajectories may vary between sexes.

Methods: We used the International Infant EEG Platform (EEG-IP), a high-density electroencephalogram (EEG) dataset pooled from two independent infant sibling cohorts, to characterize such neurodevelopmental deviations during the first years of life.

Evaluation of an adapted virtual training for master trainers of the WHO Caregiver Skills Training Program during the COVID-19 pandemic.

The COVID-19 pandemic interrupted in-person professional activities. We developed and evaluated a remote training approach for master trainers of the Caregiver Skills Training Program. Master trainers support community practitioners, who in turn deliver the Caregiver Skills Training Program to caregivers of children with developmental delays or disabilities.

Neural mechanisms of language development in infancy.

Understanding the neural processes underpinning individual differences in early language development is of increasing interest, as it is known to vary in typical development and to be quite heterogeneous in neurodevelopmental conditions. However, few studies to date have tested whether early brain measures are indicative of the developmental trajectory of language, as opposed to language outcomes at specific ages. We combined recordings from two longitudinal studies, including typically developing infants without a family history of autism, and infants with increased likelihood of developing autism (infant-siblings) (N = 191).

Variable patterns of daily activity participation across settings in autistic youth: A latent profile transition analysis.

What people do or engage in in their daily lives, or daily life participation, is often linked to their state of being happy and healthy, as well as potential for living independently. To date, little research has been conducted on daily activity participation by autistic youth at home, at school or in the community. Learning more about individual differences in participation levels and what might influence them can help to create custom supports for autistic youth and their families.

The subcortical correlates of autistic traits in school-age children: a population-based neuroimaging study.

Background: There is emerging evidence that the neuroanatomy of autism forms a spectrum which extends into the general population. However, whilst several studies have identified cortical morphology correlates of autistic traits, it is not established whether morphological differences are present in the subcortical structures of the brain. Additionally, it is not clear to what extent previously reported structural associations may be confounded by co-occurring psychopathology.

Longitudinal associations between early childhood irritability and adolescent depression symptoms in autistic children are mediated by peer relationships but not educational engagement.

In the general population, irritability is associated with later depression. Despite irritability being more prevalent in autistic children, the long-term sequelae are not well explored. We tested whether irritability in early childhood predicted depression symptoms in autistic adolescents, and whether associations could be explained by difficulties in peer relationships and lower educational engagement.

Disentangling global and domain-level adaptive behavior trajectories among children with autism spectrum disorder.

Background: Heterogeneity in adaptive behavior abilities among people with autism spectrum disorder (ASD) is expressed not only as uneven levels of impairment across domains, but also in the developmental trajectories of adaptive skills. We studied the question of whether, after accounting for global adaptive behavior development, we find evidence of heterogeneity in the trajectories of specific domains of adaptive behavior.

Methods: A sample of 504 children with ASD was obtained by combining data from two independent natural history studies conducted in North America.

Measuring the association between behavioural services and outcomes in young children with autism spectrum disorder.

Background: Children with autism spectrum disorder (ASD) receive a wide range of services.

Aims: To examine the association between behavioural services received by children with ASD between ages 2 and 5 years and outcomes during primary school years.

Methods: A total of 414 preschool-aged children diagnosed with ASD were enrolled at five Canadian sites and were assessed within four months of diagnosis (T1), six months later (T2), 12 months later (T3), at school entry (T4), and then annually (T5-T8) to 11 years of age.

Socio-demographic disparities in receipt of clinical health care services during the COVID-19 pandemic for Canadian children with disability.

Background: Little is known about the experience of receiving in-person and virtual clinical health care services during the COVID-19 pandemic for Canadian children with developmental disabilities and delays facing multiple layers of vulnerability (e.g., low income, low educational attainment families).