Helen Leonard

Background: Health administrative data are increasingly used to investigate physical and mental health disparities experienced by people with intellectual disability worldwide. However, approaches to identifying people with intellectual disability differ across studies, complicating knowledge translation and policymaking. This scoping review aims to map the Australian health administrative data sources and case ascertainment methods used to identify intellectual disability, and to examine their strengths and limitations. Method: We conducted a scoping review of studies that ascertain people with intellectual disability using at least one Australian health administrative dataset. A total of 1075 articles were identified through searches in Embase, PubMed and PsycINFO. The databases and algorithms used to ascertain intellectual disability diagnosis were extracted from the included papers. Results: Forty‐one studies were included, identifying six categories of health administrative datasets, most commonly birth defects registries, hospitalisation data and mental health service data, with substantial variation across states or territories. In the health datasets, intellectual disability was often coded using ICD diagnostic codes, although reporting of coding methods was inconsistent. Studies frequently linked health datasets with disability service data sources to improve case ascertainment, with a median of two datasets per study (range: 1–9). The most common study outcome was health service utilisation. Frequently reported strengths of linking multiple datasets included large, population‐based samples and the capacity for longitudinal and comparative study designs, while underascertainment remained an issue, particularly for those with a milder form of intellectual disability. Conclusions: Health administrative data are a valuable resource for intellectual disability research in Australia, but methodological challenges persist, particularly in incomplete ascertainment of people with intellectual disability and inconsistency across jurisdictions. A unified national approach to data collection and analysis is needed to improve comparability across evidence and better support evidence‐informed practice and policy.

This study explored adolescent siblings’ perspectives of family life and social connections, comparing the experiences of siblings of children with and without neurodevelopmental conditions. Using a mixed methods design, teenaged siblings aged 13 to 19 years in Australia, completed questionnaires and participated in focus groups to describe their experiences relating to friendships, recreation, and holidays. Forty teenagers participated, including 24 from families of children with neurodevelopmental conditions. Commonalities were observed between teenagers of both groups for friendships, recreation, and social activities. Differences were observed in relation to inviting friends home, parental availability for transport to activities, and family holidays, where many siblings of children with neurodevelopmental conditions voiced challenges associated with taking vacations. Findings can be used to tailor supports for siblings to enhance their relationships and opportunities for socialisation, which are important protective factors for mental health and wellbeing.

Sibling profiles, including sibling status (only-child or sibling) and sibling characteristics (sibling size, birth order, and sex), can impact on lived experiences and social interactions, and operate as protective or risk factors for a wide range of health and well-being indicators and outcomes. Using population-based data linkage to disability-specific databases, sibling profiles were compared between families of children with and without neurodevelopmental conditions. Families of children with neurodevelopmental conditions were more likely to contain siblings than only-children, and be larger families, with children more likely to have shorter gestational age, lower birthweight, younger mothers, and lower socioeconomic status than other children. The context of unique sibling experiences may be important for understanding how sibling well-being may be influenced by different family circumstances.

Purpose: Quality of Life Disability (QI-Disability) is a 32-item parent-report measure assessing quality of life (QOL) in children with intellectual disability across domains of physical health, positive emotions, negative emotions, social interactions, leisure and outdoors, and independence. This study aimed to develop and validate a short form for use in clinical and research settings. Methods: Caregivers of 1,699 children with intellectual disability aged 3–18 years and representing mild to profound functional impairments, completed the QI-Disability measure as part of different studies. A Genetic Algorithm (GA) was applied to select a reduced item set. The short form was evaluated against the original scale using correlational, reliability, and Rasch analyses. Results: The GA-derived 12-item set (QID-12) represented each of the six QOL domains. Correlation between QID-12 and QI-Disability total scores was high ( r = 0.97). Internal consistency of QID-12 was acceptable (α = 0.85). Rasch analysis demonstrated good fit of all items to the partial credit model, person separation reliability was 0.84, and there was no evidence of multidimensionality ( p > 0.99). Item targeting was appropriate across the ability spectrum. Disordered category thresholds were observed for three items, but overall psychometric performance remained satisfactory. Conclusion: QID-12 provides a valid and reliable short form of the QI-Disability. It retains coverage of the key domains of child QOL while substantially reducing respondent burden, supporting its use in both clinical practice and population research.

Background: Individuals with Rett syndrome (RTT) commonly experience breathing irregularities, but previous studies have been limited by small sample sizes and clinic-based assessments. We examined respiratory dysfunction using objective measurements within a large, representative international cohort. Methods: We recruited 64 individuals with genetically confirmed RTT from Australia (n=54) and Italy (n=10), with a mean age of 17.3 years (SD 9.8). Respiratory inductive plethysmography using BioRadio™ monitored breathing patterns continuously for an average of 5.6 hours in home settings. We algorithmically identified hyperventilation and apnoea episodes, categorised severity, and examined associations with genotype and phenotypic characteristics. Results: Normal breathing occurred 84% of recorded time, hyperventilation 13%, and apnoea 4%. All participants exhibited hyperventilation; 75% demonstrated apnoea. Parent-reported prevalence underestimated objectively measured abnormalities (hyperventilation 40% vs 100%; breath-holding 42% vs 75%). Hyperventilation severity increased with age (P<0.001) and was associated with walking ability (P=0.010). Apnoea severity correlated somewhat with p.Arg294* and p.Arg133Cys variants, parent-reported breath-holding frequency (P=0.003), and poor seizure control (P=0.014). Conclusions: Objective monitoring reveals universal breathing dysfunction in RTT, substantially exceeding caregiver-reported prevalence, supporting its potential as an outcome measure for autonomic dysregulation.

This article discusses the important issue of the need for a stable definition of intellectual disability in order to allow comparisons by place and over time such as in the monitoring of this population’s health needs and utilization. The aim of the new Australian National Centre for Intellectual Disability Health, established in 2023, is to ensure that all Australian children and adults with intellectual disability receive high-quality healthcare that meets their needs. Monitoring changes in this regard requires accurate identification of the number of people with intellectual disability within a population which itself is inherently dependent on how intellectual disability is defined. We have used a definition which is relatively easy to operationalize through different sources i.e. a full-scale IQ of less than 70, a condition known to be consistent with intellectual disability or documentation of intellectual disability in medical records; through education a level of intellectual disability defined as either mild/moderate or greater, and through the National Disability Insurance Scheme an International Classification of Diseases (ICD-10-CM) diagnostic code associated with intellectual disability. In contrast the definition required by Inclusion Australia “a lifelong condition that affects a person’s intellectual skills and their behavior in different situations” is much more difficult to operationalize. We discuss this challenge within the context of historical changes and the range of sources possibly able to provide this information today. We present two case studies from different Australian states and conclude with some suggestions for a multi-source approach using data linkage.

MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) – that of which this study aimed to better characterise in the largest case series to date. For 160 individuals with MDS (median age 9.06 y, range: 0.57–51.63 y; 84% male), we report that phenotypic penetrance in females can, in some, result in a similar functional skill deficits to males. However, a higher proportion of females acquired gross motor and fine motor skills compared to males. Use of words was the most common parent-reported skill regression (34/90 [38%]) followed by fine motor/hand function (26/90 [29%]), independent walking (25/90 [28%]) and feeding (25/90 [28%]). Additionally, lower proportions of functional ability were present in those with seizures compared to those without. A general trend was also observed for decreasing functional skills with increasing age. Additionally, those with a larger duplication length (1 + Mb) were less likely to be able to acquire independent walking compared with those with less than a 1 + Mb duplication ( p < 0.001). This is the first study to comprehensively map the developmental trajectory of functional skills in MDS and provides a seminal baseline for better characterising the natural history of this disorder. Further investigations are required to understand the importance of interventional therapy on the retainment of functional skills.

The Rett Syndrome Behaviour Questionnaire (RSBQ) describes behavioural and emotional features. This study investigated total RSBQ score trajectories and th

Sleep disturbance is a common and significant issue for individuals with CDKL5 Deficiency Disorder (CDD) and their families. The study aimed to investigate