Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome.

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delays, typical facial features, ataxia, seizures, speech impairments, sleeping difficulties, and a happy demeanor. Caregivers of individuals with AS often report feeding problems, with difficulties including issues with obesity, failure to gain weight at the expected rate, food-seeking behaviors, and the requirement of tube-feeding. This study examined the frequency of feeding problems in 57 adults with AS, the most common types of issues, the associations and differences between those who experience feeding problems, and the predictors of feeding problems.

Parenting Acceptance and Commitment Therapy Online (PACT Online) for parents of children diagnosed with or with increased likelihood of neurodevelopmental disability: study protocol of a randomised controlled trial.

Introduction: Approximately 1 in 13 Australian children have a neurodevelopmental disability. This project aims to assess the effectiveness and implementation of an online parenting support programme, Parenting Acceptance and Commitment Therapy () for parents of children with neurodevelopmental disabilities for improving the parent-child relationship and parent and child outcomes.

Methods And Analysis: This hybrid type 1 randomised controlled trial will focus on evaluating intervention effectiveness and understanding the context for implementation.

The perspectives of autistic adolescents and their parents on sleep strategies for insomnia.

Background: Autistic adolescents are vulnerable to sleep difficulties, with up to 80 % experiencing sleep problems, most commonly insomnia. Little is known about how autistic adolescents are involved in their own sleep treatment, and their depth of knowledge about their sleep difficulties. The aims of this study were to investigate autistic adolescent and parent perspectives of experiencing and managing insomnia, and what factors influence the development of these perspectives on insomnia and treatment.

Effectiveness of current digital cognitive behavioural therapy for insomnia interventions for adolescents with insomnia symptoms: A systematic review and meta-analysis.

Sleep problems occur in up to 20%-45% of adolescents. This systematic review and meta-analysis examined the effectiveness of digital sleep interventions, based on cognitive behavioural therapy for insomnia, for adolescents with insomnia symptoms. The objective was to synthesise and quantify, through meta-analyses, changes in sleep following completion of a digital sleep-based intervention.

Gastrointestinal, Behaviour and Anxiety Outcomes in Autistic Children Following an Open Label, Randomised Pilot Study of Synbiotics vs Synbiotics and Gut-Directed Hypnotherapy.

Alterations of the microbiome-gut-brain (MGB) axis have been associated with autism spectrum disorder (ASD) and disorders of gut-brain interaction (DGBI). DGBI are highly prevalent in autistic children and are associated with worsening behaviour and anxiety. Treatments such as probiotics, prebiotics and gut-directed hypnotherapy (GDH) have shown efficacy in improving gut symptoms in children.

Association between sleep disturbances and challenging behavior in children and adolescents with Angelman syndrome.

Angelman Syndrome (AS) is a neurodevelopmental disorder with severe symptoms and associated comorbidities. It is caused by the inactivity or lack of the UBE3a gene. Symptoms of the syndrome include intellectual disability and developmental delay.

Student experiences in a novel interprofessional neurodevelopmental clinic: a qualitative study.

Background: Student-led clinics can provide low-cost speciality care and practical interprofessional education (IPE) opportunities. In Australia, there are currently limited speciality services available that provide neurodevelopmental assessments that consider fetal alcohol spectrum disorder (FASD) as one possible outcome. The aim of the current study was to understand student experiences in a novel interprofessional student-led clinic for children and adolescents with suspected or confirmed prenatal alcohol exposure.

A novel drive-through approach to vaccination of children and young people with neurodevelopmental disability.

Disparities in preventative health care likely contribute to comorbidities associated with neurodevelopmental disability. These comorbidities are risk factors for poor outcomes of COVID-19, making COVID-19 vaccination a priority for this population. In mid-2021, the Australian Technical Advisory Group (ATAGI) recommended the COVID-19 vaccination rollout include children and young people at risk of severe COVID-19 associated disease.

Association Between Challenging Behaviour and Sleep Problems in Adults Enrolled in the Global Angelman Syndrome Registry.

Angelman Syndrome (AS) is a rare genetic disorder that impacts 1:20,000 people. Challenging behaviour, such as severe injurious behaviour, aggression and frequent unprovoked episodes of laughter are a significant problem among adults with AS that adversely impacts an individual's quality of life. This study, for the first time, aims understand the characteristic of challenging behaviour, its frequency, and the factors associated with it in adults with AS.

The effectiveness and tolerability of pharmacotherapy for psychosis in 22q11.2 Deletion Syndrome: A systematic review.

Objective: The 22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion in humans with over 180 phenotypic expressions.

Longitudinal change in sleep, functional, and behavioural characteristics in a cohort of children with Down syndrome.

This paper describes the longitudinal change in sleep, functional, and behavioural characteristics in a cohort of children with Down syndrome, including the effect of sleep interventions in a subset. A prospective longitudinal cohort study was undertaken in children with Down syndrome aged 3-16 years comparing (1) children referred to a tertiary sleep medicine clinic who received sleep hygiene advice and an additional sleep treatment (DSref_I) with (2) children attending the same clinic who only received sleep hygiene advice (DSref_N) and (3) children recruited from the community who, were not receiving any treatment (DScomm). Data collected included demographic and medical history information, Child Sleep Habits Questionnaire-Abbreviated (CSHQ-A), Life-Habits Questionnaire (Life-H) and Child Behaviour Checklist (CBCL) at baseline and then 6-monthly for a total of 18 months.

Does the registry speak your language? A case study of the Global Angelman Syndrome Registry.

Global disease registries are critical to capturing common patient related information on rare illnesses, allowing patients and their families to provide information about their condition in a safe, accessible, and engaging manner that enables researchers to undertake critical research aimed at improving outcomes. Typically, English is the default language of choice for these global digital health platforms. Unfortunately, language barriers can significantly inhibit participation from non-English speaking participants.

Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study.

Purpose: To evaluate efficacy and safety of gaboxadol for treatment of children with Angelman syndrome (AS).

Method: In this international, double-blind, phase 3 trial, we randomized children 4-12 years old with a molecular diagnosis of AS and a Clinical Global Impression (CGI)-severity score ≥3 to either daily administration of weight-based gaboxadol or matching placebo for 12 weeks. The primary endpoint was the CGI-Improvement-AS (CGI-I-AS) score at week 12.

Understanding the Perspective of Youths on Undergoing Metabolic Monitoring While on Second-Generation Antipsychotics: Challenges, Insight, and Implications.

Prescription of second-generation antipsychotics (SGAs) in youths is rapidly increasing globally, despite the potential for significant adverse effects and long-term health consequences. A known adverse reaction resulting from SGAs is metabolic syndrome (MS). Youths exposed to antipsychotics are at higher risk than adults for adverse drug reactions, including adverse events such as MS (with weight gain as the most significant adverse outcome) and other long-term endocrinological abnormalities.

Interactions between the lipidome and genetic and environmental factors in autism.

Autism omics research has historically been reductionist and diagnosis centric, with little attention paid to common co-occurring conditions (for example, sleep and feeding disorders) and the complex interplay between molecular profiles and neurodevelopment, genetics, environmental factors and health. Here we explored the plasma lipidome (783 lipid species) in 765 children (485 diagnosed with autism spectrum disorder (ASD)) within the Australian Autism Biobank. We identified lipids associated with ASD diagnosis (n = 8), sleep disturbances (n = 20) and cognitive function (n = 8) and found that long-chain polyunsaturated fatty acids may causally contribute to sleep disturbances mediated by the FADS gene cluster.

Exploring the experience of service users following attendance at a student-led interprofessional neurodevelopmental clinic.

Purpose: The aim of the current study was to understand service users' experiences at a recently established student-led interprofessional neurodevelopmental clinic for children and adolescents with suspected or confirmed prenatal alcohol exposure.

Method: Semi-structured interviews were completed at 3-months post-clinic attendance with 10 service users: eight parents/caregivers and two youth workers/case managers. Interview data were analysed thematically using NVivo12.

A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX).

Background: Fragile X syndrome (FXS) is associated with dysregulated endocannabinoid signaling and may therefore respond to cannabidiol therapy.

Design: CONNECT-FX was a double-blind, randomized phase 3 trial assessing efficacy and safety of ZYN002, transdermal cannabidiol gel, for the treatment of behavioral symptoms in children and adolescents with FXS.

Methods: Patients were randomized to 12 weeks of ZYN002 (250 mg or 500 mg daily [weight-based]) or placebo, as add-on to standard of care.

Specialist care of children with complex needs: Insights from comparison of child development and child mental health clinics.

Aim: Paediatricians and child psychiatrists review children with complex comorbidity, noting similarities between tertiary Child Development Service (CDS) and Child and Youth Mental Health Service (CYMHS) cohorts. Mental health comorbidity is common in developmental services. Developmental comorbidity in mental health cohorts is uncharacterised.

Impact of adenotonsillectomy on growth trajectories in preschool children with mild-moderate obstructive sleep apnea.

Study Objectives: Adenotonsillectomy (AT) forms part of first-line management for pediatric obstructive sleep apnea. In nonrandomized studies of preschool-aged children, postoperative weight gain has been seen following AT, raising concerns regarding later obesity. Using longitudinal data from a multicenter randomized controlled trial, we assessed the impact of AT on growth trajectories in preschool-aged children with mild-moderate obstructive sleep apnea.

Watch me grow integrated (WMG-I): protocol for a cluster randomised controlled trial of a web-based surveillance approach for developmental screening in primary care settings.

Introduction: The increasing prevalence of developmental disorders in early childhood poses a significant global health burden. Early detection of developmental problems is vital to ensure timely access to early intervention, and universal developmental surveillance is recommended best practice for identifying issues. Despite this, there is currently considerable variation in developmental surveillance and screening between Australian states and territories and low rates of developmental screening uptake by parents.

Practitioners' Perspective on Metabolic Monitoring of Second-Generation Antipsychotics: Existing Gaps in Knowledge, Barriers to Monitoring, and Strategies.

Prescription of second-generation antipsychotics (SGAs) in youth is rapidly increasing globally and in Australia. Lack of timely metabolic monitoring for potential adverse effects puts youth at greater risk for lifelong adverse health impact. Metabolic monitoring is recommended as best practice to prevent and/or manage SGA-induced weight gain/metabolic syndrome.

Clinical and behavioral attributes leading to sleep disorders in children on the autism spectrum.

Sleep disorders are a common comorbid condition in children diagnosed with autism spectrum disorder ("autism"). However, the relationship between the clinical features of autism and sleep disorders remains unclear. A better understanding of the inherent autism-related characteristics linked to comorbid sleep disorders would improve comprehensive assessment and management.

Safety and target engagement of an oral small-molecule sequestrant in adolescents with autism spectrum disorder: an open-label phase 1b/2a trial.

Autism spectrum disorder (ASD) is defined by hallmark behaviors involving reduced communication and social interaction as well as repetitive activities and restricted interests. ASD represents a broad spectrum, from minimally affected individuals to those requiring intense support, with additional manifestations often including anxiety, irritability/aggression and altered sensory processing. Gastrointestinal (GI) issues are also common in ASD, and studies have identified changes in the gut microbiome of individuals with ASD compared to control populations, complementing recent findings of differences in gut-derived metabolites in feces and circulation.