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Overnight monitoring of sleep biomechanics: A scoping review

Body position and movement during sleep is assessed for both clinical and research purposes. A diverse array of both assessment tools and classification systems are used to capture and code sleep biomechanics data.

Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome

Rett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT.

Using Focussed Ethnography to Observe and Understand the Actions and Interactions of People With Prader-Willi Syndrome When They Exercise at a Community Gym: A Protocol

Exercise for people with Prader-Willi syndrome (PWS) is important for their health and wellbeing and can provide opportunities for community participation. However, they may find it difficult to participate in some contexts, such as community gyms because social and environmental barriers in these settings may compound difficulties caused by physical impairments or intellectual disability.

Investigating the Feasibility and Acceptability of a Facebook Delivered, Parent Mediated, Physical Activity Intervention for Children with Developmental Coordination Disorder

Children with Developmental Coordination Disorder (DCD) experience difficulties performing fundamental movement skills, resulting in reduced physical activity (PA). Given low PA can impact mental and physical health, improving PA in DCD appears imperative. This study investigates the feasibility of a Facebook delivered, parent mediated, PA intervention for children with DCD.

Hospitalizations Following Complex Hip Surgery in Children with Intellectual Disability: A Self-Controlled Case Series Analysis

To evaluate the associations between complex hip surgery and subsequent hospitalizations in children with intellectual disability, including a subset of children with cerebral palsy.

Parental work schedules and hours from a cross-national perspective: a welfare regime analysis on 29 countries

Technological advances have transformed when and for how long individuals work, a process associated with increasing polarization and precarity. Using the European Working Conditions Survey (2005-2015), we examined parental work schedules and hours across welfare regimes covering 29 European countries.

Are assisted reproductive technology pregnancies more likely to be exposed to teratogenic medication? A whole-population study

Assisted reproductive technology (ART) pregnancies are at greater risk of birth defects than non-ART pregnancies. Teratogenic medication exposure is a potential cause of birth defects that has not been compared between ART and non-ART pregnancies.

Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder

The CDKL5 Clinical Severity Assessment is a comprehensive, content-validated measurement tool capturing the diverse challenges of cyclin-dependent kinase-like 5 deficiency disorder, a genetically caused developmental epileptic encephalopathy. The CCSA is divided into clinician-reported and caregiver-reported assessments. The aim of this study was to evaluate the factor structure of these measures through confirmatory factor analysis and evaluate their validity and reliability.

Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International Database

CDKL5 deficiency disorder presents as a challenging condition with early-onset refractory seizures, severe developmental delays, and a range of other neurological symptoms. Our study aimed to explore the benefits and side effects of anti-seizure medications in managing seizures among individuals with CDKL5 deficiency disorder, drawing on data from the International CDKL5 Disorder Database.  

Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. However, instruments applied to quantify disease burden have not adequately captured the impact of these impairments on affected individuals and their families. Consequently, an international collaboration of stakeholders aimed at evaluating Burden of Illness in RTT was organized.