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

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

Study Design: We conducted a retrospective cohort study using linked administrative, health, and disability data from Western Australia. Children born between 1983 and 2009 who underwent complex hip surgery by end 2014 were included (intellectual disability, n = 154; subset with cerebral palsy, n = 91).

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

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

Parent-reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic review.

Background: Communication impairments are a leading concern for parent caregivers of individuals with rare neurodevelopmental disorders (RNDDs). Clinical trials of disease modifying therapies require valid and responsive outcome measures that are relevant to individuals with RNDDs. Identifying and evaluating current psychometric properties for communication measures is a critical step towards the selection and use of appropriate instruments.

Modification of a parent-report sleep scale for individuals with CDKL5 deficiency disorder: a psychometric study.

Study Objectives: Sleep difficulties are common in CDKL5 deficiency disorder, a developmental and epileptic encephalopathy. This study evaluated the factor structure of the Disorders of Initiating and Maintaining Sleep (DIMS), Disorders of Excessive Somnolence (DOES), and Sleep Breathing Disorders domains of the Sleep Disturbance Scale for Children for CDKL5 deficiency disorder.

Methods: A cross-sectional psychometric study design was used.

Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial.

CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Ganaxolone, a neuroactive steroid, reduces the frequency of major motor seizures in children with CDD. This analysis explored the effect of ganaxolone on non-seizure outcomes.

Risk of otitis media in offspring following maternal prenatal stress exposure.

Objectives: There is limited but consistent evidence that suggests prenatal factors, including maternal stress, may contribute to susceptibility for otitis media. We aimed to determine the effect of multiple life stress events during pregnancy on risk of acute and recurrent otitis media in offspring at three and five years of age.

Methods: Exposure data on stressful life events were collected from pregnant women in a longitudinal prospective pregnancy cohort study, at 18 and 34 weeks' gestation.

Psychometric Properties of the EQ-5D-Y-5L for Children With Intellectual Disability.

Objectives: The EQ-5D-Y-5L is a generic preference-based measure of health-related quality of life for children. This study aimed to describe the distributional properties, test-retest reliability, and convergent validity of the EQ-5D-Y-5L in children with intellectual disability (ID).

Methods: Caregivers of children with ID (aged 4 to 18 years) completed an online survey, including a proxy-report EQ-5D-Y-5L, the Quality-of-life Inventory-Disability, and disability-appropriate measures corresponding to the EQ-5D dimensions: mobility, self-care (SC), usual activities (UA), pain/discomfort (PD), and worry/sadness/unhappiness.

Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study.

CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.

Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study.

Purpose: Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD.

Methods: Item and scoring categories of the RSGMS were modified.

Safety, tolerability, and effect of a single aural dose of Dornase alfa at the time of ventilation tube surgery for otitis media: A Phase 1b double randomized control trial.

Background: One third of children require repeat ventilation tube insertion (VTI) for otitis media. Disease recurrence is associated with persistent middle ear bacterial biofilms. With demonstration that Dornase alfa (a DNase) disrupts middle ear effusion biofilms ex vivo, we identified potential for this as an anti-biofilm therapy to prevent repeat VTI.

How Well Does the EQ-5D-Y-5L Describe Children With Intellectual Disability?: "There's a Lot More to My Child Than That She Can't Wash or Dress Herself.".

Objectives: The EQ-5D-5L is a generic health utility instrument for measuring health-related quality of life (HRQoL), with self-report and proxy report versions for children (EQ-5D-Y-5L). Children with intellectual disability (ID) are a heterogeneous population whose impairments and comorbidities place them at risk of poor HRQoL. This study aimed to describe the content validity and suitability for children with ID of a proxy report version of the EQ-5D-Y-5L as seen by their caregivers.

Influenza vaccination in Western Australian children: Exploring the health benefits and cost savings of increased vaccine coverage in children.

Introduction: To assess potential benefits and direct healthcare cost savings with expansion of an existing childhood influenza immunisation program, we developed a dynamic transmission model for the state of Western Australia, evaluating increasing coverage in children < 5 years and routinely immunising school-aged children.

Methods: A deterministic compartmental Susceptible-Exposed-Infectious-Recovered age-stratified transmission model was developed and calibrated using laboratory-notification and hospitalisation data. Base case vaccine coverage estimates were derived from 2019 data and tested under moderate, low and high vaccine effectiveness settings.

The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder.

Background: CDKL5 Deficiency Disorder (CDD) is a severe X-linked developmental and epileptic encephalopathy. Existing developmental outcome measures have floor effects and cannot capture incremental changes in symptoms. We modified the caregiver portion of a CDD clinical severity assessment (CCSA) and assessed content and response-process validity.

Long-term outcomes of symptomatic optic pathway glioma: 32-year experience at a single Western Australian tertiary pediatric oncology center.

Introduction: Optic pathway gliomas (OPGs) are associated with significant risk of visual and endocrine morbidity, but data on long-term outcomes in symptomatic patients is sparse. This study reviews the clinical course, disease progression, survival outcomes and long-term sequelae in pediatric patients with symptomatic OPGs in our institution over three decades.

Methods: Retrospective review of patients with symptomatic OPG treated in a single tertiary pediatric oncology center from 1984 to 2016.

Pneumococcal carriage, serotype distribution, and antimicrobial susceptibility in Papua New Guinean children vaccinated with PCV10 or PCV13 in a head-to-head trial.

Background: Children in Papua New Guinea (PNG) are at high risk of pneumococcal infections. We investigated pneumococcal carriage rates, serotype distribution, and antimicrobial susceptibility in PNG children after vaccination with 10-valent or 13-valent pneumococcal conjugate vaccines (PCV10; PCV13).

Methods: Infants (N = 262) were randomized to receive 3 doses of PCV10 or PCV13 at 1-2-3 months of age, followed by pneumococcal polysaccharide vaccination (PPV) or no PPV at 9 months of age.

Early onset of otitis media is a strong predictor of subsequent disease in urban Aboriginal infants: Djaalinj Waakinj cohort study.

Aim: Australian Aboriginal and/or Torres Strait Islander children in rural/remote areas suffer high rates of persistent otitis media (OM) from early infancy. We aimed to determine the proportion of Aboriginal infants living in an urban area who have OM and investigate associated risk factors.

Methods: Between 2017 and 2020, the Djaalinj Waakinj cohort study enrolled 125 Aboriginal infants at 0-12 weeks of age in the Perth South Metropolitan region, Western Australia.

Quality of life beyond diagnosis in intellectual disability - Latent profiling.

Objective: To compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities.

Method: Primary caregivers of 526 children with intellectual disability (age 5-18 years) and a diagnosis of cerebral palsy, autism spectrum disorder, Down syndrome, CDKL5 deficiency disorder or Rett syndrome completed the Quality of Life Inventory-Disability (QI-Disability) questionnaire. Latent profile analysis of the QI-Disability domain scores was conducted.

Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand).

Pathogenic variants in the gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability.

Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder.

Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families.

Modelling quality of life in children with intellectual disability using regression trees.

Aim: To identify factors associated with quality of life (QoL) in children with intellectual disability. We aimed to identify patterns of association not observable in previous hypothesis-driven regression modelling using the same data set from a cross-sectional observational study.

Method: A questionnaire was completed by 442 caregivers of children with confirmed intellectual disability and a diagnosis of autism spectrum disorder, cerebral palsy, Down syndrome, or Rett syndrome.

Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome.

Individuals with Prader-Willi syndrome (PWS) often have excessive daytime sleepiness and emotional/behavioral disturbances. The objective of this study was to examine whether daytime sleepiness was associated with these emotional/behavioral problems, independent of nighttime sleep-disordered breathing, or the duration of sleep. Caregivers of individuals with PWS (aged 3 to 25 years) completed the Pediatric Sleep Questionnaire (PSQ), Epworth Sleepiness Scale for Children and Adolescents (ESS-CHAD), and the parent version of the Developmental Behavior Checklist (DBC-P).

Modifiable child and caregiver factors that influence community participation among children with Down syndrome.

Purpose: To investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome.

Methods: Cross-sectional data from a study investigating quality of life of children with intellectual disability were analysed. Participants were caregivers of 89 children with Down syndrome (54 females; 83 school attenders) (mean age 11 y 1 mo; SD 4 y 1 mo).

Devising a Missing Data Rule for a Quality of Life Questionnaire-A Simulation Study.

Objective: The aim of this study was to devise an evidence-based missing data rule for the Quality of Life Inventory-Disability (QI-Disability) questionnaire specifying how many missing items are permissible for domain and total scores to be calculated using simple imputation. We sought a straightforward rule that can be used in both research and clinical monitoring settings.

Method: A simulation study was conducted involving random selection of missing items from a complete data set of questionnaire responses.