This study sought to identify health literacy profiles of Australian parents of children with special health care needs (SHCN), and explore the relationships between health literacy, experiences of health care integration, and parent stress. A cross-sectional study design was used. Anonymous data were collected via an online survey including the Health Literacy Questionnaire (HLQ), a modified version of the Pediatric Integrated Care survey (PICS), parent perceived stress, and additional child and family demographic questions including child quality of life using the EQ-5D-Y. We performed a cluster analysis using the HLQ to identify health literacy profiles, and used descriptive statistics to examine relationships between health literacy profiles, health care integration and parent perceived stress. A total of 126 Australian parents of children with varied special health care needs participated, with needs predominantly related to disability (53.7

Background Menstruation can be complex and challenging to manage, including for those with intellectual disability. People with intellectual disability experience additional barriers that prevent adequate access to information and support. Parents play an important role in supporting young people with intellectual disability with menstruation. Objectives The aim of this study was to explore parental experiences and identify areas of complexity associated with menstruation for their young people with intellectual disability to guide the development of priority supports. Design A qualitative interview study to deeply explore the rich experiences of parents. Methods Parents of young people with intellectual disability were interviewed about their experiences of supporting their child’s menstruation, including their decision-making processes and information and management needs. Data were analysed using inductive reflexive thematic analysis with NVivo software. Results The sample comprised 16 parents (all mothers) who discussed 17 young people with intellectual disability (10-25 years). Five themes were constructed: (1) Setting up for success (establishing positive menstruation attitudes), (2) Competing priorities (wellbeing, convenience, and inclusion prioritised over menstruation), (3) Support from multiple avenues (support from different people, professions, and organisations was important) (4) Protecting dignity and safety (concerns about sexual abuse, pregnancy, distress, socially unacceptable behaviours, and pain), and (5) There is more to be done (information and attitudes need to be improved). Conclusions It is important to understand the menstruation experiences and needs of parents of young people with intellectual disability because of management uncertainty and complexity. This study contributes to an under-researched field and can inform changes to better support families including much needed information and education.

Introduction Many children and their families, especially those from priority populations, experience barriers to accessing high-quality early childhood health, education, social and legal services. Further, these families are often under-represented in service planning and research; hence innovations are not designed to meet their needs. Our aim is to codesign with families and the wider community, a Strength-based, Tiered, Accessible Resources and Supports for Kids (STARS for Kids) programme to optimise child development, parental mental well-being, and family psychosocial needs in the first 2000 days from pregnancy to start of school.Methods and analysis This study will employ a mixed methods design at three sites: (1) Fairfield, urban multicultural site in South-Western Sydney New South Wales; (2) Taree, a regional town with a large Indigenous community; and (3) The City of Wanneroo, a low socioeconomic area of Western Australia. The codesign process will involve five phases of the design thinking methodology informed by culturally safe, strengths-based, and trauma-informed practices. Codesign will involve families, service providers, and community leaders from priority groups such as multicultural stakeholders from South-Western Sydney and an Aboriginal Community Consultation Group with Biripi Elders and other local Indigenous representatives at Taree. Data collection will include semi-structured interviews, workshops, or focus groups as well as ‘yarning’ for the Aboriginal community. Qualitative data will be thematically analysed using Braun and Clarke’s six-phase method of thematic approach.Trial registration number Australian New Zealand Clinical Trials Registry - ACTRN12624000806561 (This protocol pertains only to the initial codesign phase, during which the STARS for Kids tiered care model will be finalised for subsequent implementation and evaluation in the next trial phase which is outlined in the trial registry).

Objective Prior work has shown that quantitative EEG and evoked potentials (EPs) may be useful as objective measures of brain function for CDKL5 deficiency disorder (CDD), a developmental and epileptic encephalopathy associated with pathogenic variants in CDKL5. The current study builds on this work by examining associations between EEG/EP parameters and CDD-specific symptom severity in a large, representative cohort of individuals with CDD. Methods Resting EEG and visual and auditory EPs were acquired from 77 participants with CDD in a multi-site study designed to enhance clinical trial readiness for CDD. The statistical analysis evaluated associations between the EEG/EP parameters and validated CDD-specific measures of clinical severity. Results Resting EEG 1/f slope and power ratios were significantly associated with the clinical measures such that greater EEG background slowing correlated with greater symptom severity. In contrast, neither visual nor auditory EP measures were significantly associated with clinical severity in this cohort. Conclusions The results underscore the potential utility of resting EEG parameters to serve as objective measures of clinical severity and brain function for CDD.Significance: Future studies should continue to refine resting EEG as a biomarker to facilitate therapeutic development for CDD, as well as test new methods for the acquisition and analysis of EPs in this population.

Background: Trofinetide is approved for the treatment of Rett syndrome (RTT) in patients aged ≥2 years. Here, we present the benefits and tolerability of trofinetide in the treatment of RTT with the 12-month follow-up of LOTUS. Methods: Caregivers of patients who are prescribed trofinetide under routine clinical care are eligible to participate. Assessments include the Behavioral Improvement Questionnaire (BIQ), the Quality-of-Life Inventory-Disability (QI-Disability) Questionnaire, and the Gastrointestinal Health Questionnaire. Due to ongoing enrollment, data are reported to 9 months since the initiation of trofinetide. Results: In total, 192 patients were included. The median dose reported at week 1 was 45.0% of the target weight-banded label dose; by week 9 onwards, the median dose was at least 80.0% of the target weight-banded label dose. Behavioral improvements reported with the BIQ were nonverbal communication (49–62%), alertness (43–62%), and social interaction/connectedness (32–52%). The QI-Disability Questionnaire median total scores indicated overall improvement in quality of life (QoL) with trofinetide. Caregivers reported that patients were most likely to void normal stools over the follow-up; most reports of diarrhea were contained inside the patient’s diaper. Conclusions: Caregivers of patients with RTT in LOTUS reported behavioral improvements of RTT symptoms and improvement in patients’ QoL.

BACKGROUND:Young people with intellectual disability often have complex healthcare needs. Parent/caregivers can enhance their child's involvement in healthcare decision-making to improve treatment adherence and health outcomes. Healthcare decision-making is embedded within health literacy skillsets, and for people with intellectual disability additional time and assistance are needed to ensure preferences are included. This study aims to explore parent/caregiver perspectives on the different ways that young people with intellectual disability participate in healthcare decision-making and factors that influence involvement to inform future support resources. METHODS:Fifty-three interviews were conducted with parent/caregivers of 26 females and 27 males with intellectual disability aged 10-25 years. Interviews took place online and were audio-recorded and transcribed verbatim after informed consent was provided. Interviews explored decision-making involvement at home and in healthcare settings. A conventional content analysis was conducted using NVivo. RESULTS:The findings are organised into three overarching categories including the primary finding of the 'Ladder of decision-making involvement', which describes the different levels of participation in the decision-making process from active to passive, as described by parent/caregivers. Secondary findings include the 'Facilitators and barriers of decision-making involvement', which centre on five key areas (information, opportunities and experiences, communication, relationships, accommodations and support) and 'Parent/caregiver influences and experiences', which include reflections on the value (in terms of the young person's rights and agency), challenges and contextuality of decision-making. Some parent/caregivers did not consider it possible to involve their child in healthcare decision-making due to a perceived lack of capacity. CONCLUSIONS:This research makes an important contribution to the literature by mapping parent/caregiver perspectives on the scope of involvement and outlining key factors and influences that shape involvement opportunities, skills and experiences. Findings can inform the resources that support parent/caregivers to develop and assist decision-making skills with their child across levels of involvement.

Children with developmental and epileptic encephalopathies (DEEs) face cognitive and behavioral challenges that may have a greater impact than seizures on their quality of life (QoL). The need to assess these nonseizure outcomes for evaluating treatments is increasingly recognized. Advances in genomic technologies have transformed the diagnostic landscape of rare genetic epilepsies, including DEEs, opening new opportunities for precision medicine. There is also growing interest in drug repurposing, identifying well-tolerated medications for other indications for use in DEEs. Innovative trial designs and the systematic collection of prospective natural history data are essential, given the rarity and heterogeneity of DEEs. The selection of reliable, valid, and meaningful outcome measures of cognition and behavior is crucial for clinical trials and natural history studies. Commonly used tools for assessing cognition and adaptive behavior often exhibit floor effects and may fail to capture subtle, yet clinically significant, changes in functioning that are meaningful for children and their families. There is thus a need to explore a fuller range of clinical outcome assessments (COAs) and scoring methods that could be sensitive to change and suitable for use in rare disease populations. Assessing behavioral and emotional outcomes in children with DEEs is additionally challenging, as many assessment instruments have been developed and validated for use in children without intellectual disability. To fully realize the potential of precision medicine in the DEEs, a robust framework for outcomes assessment is required, one that incorporates sensitive, reliable, and meaningful COAs tailored to this population. Coordinated efforts to identify and adapt existing measures or develop new outcome tools will be crucial for advancing therapeutic strategies that genuinely improve QoL for children with DEEs. This article summarizes the issues faced when selecting outcome measures for DEE trials and reviews commonly used instruments for assessing cognition and behavior in children with DEEs.

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. 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. 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. 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. Measuring quality of life (QOL) in children with intellectual disability is typically based on parent or proxy-report. Existing QOL questionnaires are lengthy and may form part of a battery of measures that can be time consuming to complete. Thus, there is a need for briefer, psychometrically sound questionnaires that can reduce respondent burden and provide an overall measure of child QOL for some clinical or research contexts. The Quality of Life Inventory – Disability (QI-Disability) is a validated 32-item parent-report measure of children’s QOL across six domains - physical health, positive and negative emotions, social interaction, leisure and the outdoors, and independence. This study sought to develop and validate a short-form version of QI-Disability in a large sample of children with mild to profound intellectual disability. The resulting 12-item short-form (QID-12) demonstrated strong validity and reliability, capturing the six key domains of child QOL while substantially reducing respondent burden. These findings support the use of QID-12 in both clinical practice and population research taking into account that the short form is not intended to replace the full QI-Disability in all contexts.

BACKGROUND:People with intellectual disability experience significant gaps in healthcare delivery resulting in poor health outcomes. Appropriately designed healthcare is required to meet the needs of this population and achieve better health outcomes. Little is known about the structure of healthcare delivery for people with intellectual disability and whether it is effective or cost-effective. To improve health services, this scoping review sought to describe how models of healthcare are structured and summarise evidence for their effectiveness and cost-effectiveness for people with intellectual disability in Australia. METHODS:A preliminary search of literature describing models of healthcare for people with intellectual disability in Australia was conducted to generate a description of how healthcare is delivered for people with intellectual disability. Following PRISMA-ScR guidelines, an electronic search of peer-reviewed literature of four databases (MEDLINE, CINAHL, PsycINFO and Cochrane Library) was undertaken in August 2024 and updated in February 2025, and websites of government departments of health across Australia were searched for grey literature. All study designs conducted in any healthcare setting in Australia were included if evaluation data were available. Outcome data related to the person with intellectual disability, carers, clinicians/service providers or health services were extracted. Data were synthesised qualitatively. RESULTS:Fifteen publications were identified including 10 peer-reviewed articles and five reports in the grey literature. The following components of healthcare delivery were described: reasonable adjustments, person-centred care, capacity building, care coordination, cross-sectoral coordination and specialist multidisciplinary teams. Each model of care was associated with some evidence of effectiveness. Cost-effectiveness was found with models that used cross-sectoral care coordination. CONCLUSIONS:The models of care were heterogeneous, and evaluations indicated positive outcomes including better health outcomes and reduced costs. The scope of evaluations and therefore generalisability of findings was limited. More high-quality research and suitable measures of outcome are needed to guide the design of best practice healthcare for people with intellectual disability. These findings provide important guidance for the implementation of the National Roadmap for Improving the Health of People with Intellectual Disability, a current policy initiative in Australia. The effectiveness and cost-effectiveness of cross-sectoral care coordination suggest that coordinated care at the intersection of the health and disability sectors could improve health outcomes. We suggest that strategies for effective delivery of healthcare are structured and standardised to enable more widespread implementation and evaluation by policy makers and practitioners.

Aim Research on the health literacy of parents with children with intellectual disability is limited. Understanding parents’ healthcare skills and needs is essential for improving children’s health and developing effective support. In this study we aimed to (1) explore the health literacy skills of parents that enabled them to support the health needs of their child with intellectual disability and the factors influencing these skills, and (2) identify opportunities to support parent health literacy. Methods A qualitative study was carried out using interviews with 24 parents of children and young people with intellectual disability. A directed content analysis was completed, guided by the nine domains included in the Health Literacy Questionnaire. Results Participants demonstrated strong health literacy skills; however, there was diversity in their strengths and needs across different domains of health literacy. Navigating healthcare systems was the key area where participants faced challenges and required further support. Participants described factors including educational levels, professional expertise, experiences over time, and relationships with healthcare professionals which influenced their health literacy. Opportunities to improve health literacy were identified, addressing parents, healthcare professionals, and healthcare and disability services. Conclusion Developing and maintaining health literacy is critical to parents supporting the health of children with intellectual disability. These results provide insight into how health literacy interventions can be designed to support parent health literacy. Practice implications The study provides participants’ recommendations for how healthcare professionals can support parent health literacy. These recommendations relate to the health literacy responsiveness of the professional and service.

INTRODUCTION: The Rett Syndrome Behaviour Questionnaire (RSBQ) describes behavioural and emotional features. This study investigated total RSBQ score trajectories and their clustering, and for trajectory groups, relationships with genotype and mobility, weight-for-age z scores, and seizure frequency. METHODS: Females in the Australian Rett Syndrome Database who were genetically confirmed with RSBQ data collected between 2000 and 2019 were included. The age trend was modelled with mixed-effects linear regression. Unique trajectory classes for total RSBQ scores and time-varying predictors (mobility, weight-for-age z scores, seizure frequency) were identified with group-based trajectory modelling. Associations between genotype, time-varying predictors and RSBQ total score class memberships were assessed with multinomial logistic regression. RESULTS: There were 1,034 questionnaires collected from 298 individuals (age range 1.7-37.9 years) with a median of 3 (range 1-7) per person. For individuals aged 5 to 20 years at first RSBQ response, the mean (95% CI) scores were 43.9 (40.7, 47.1) at age 5 and 42.0 (39.9, 44.2) at age 20. Total score trajectories clustered into low and middle groups where scores decreased steadily, and a high group which decreased after age 20. Compared to independent walking, assisted walking increased the probability of being in the high-scoring RSBQ group. Very low weight (<-6 z score) increased the probability of being in the medium or high-scoring group. Weak associations were found with seizure frequency and genotype. CONCLUSION: RSBQ total scores declined with increasing age suggesting improvement in the behavioural and emotional phenotype with age and time. There were few relationships between RSBQ scores and indicators of clinical severity. These natural history data form a baseline for comparison as new treatments become available.

Valid neurodevelopmental assessments for individuals with profound intellectual and multiple disabilities (PIMD) and/or developmental and epileptic encephalopathy (DEE) are critical for clinical trials and clinical care as families report functional abilities are a priority for improvement. However, most extant tools have limited ability to measure relevant skills and meaningful change for individuals with severe to profound impairment. We evaluated the psychometric properties of the Developmental Profile, Fourth Edition (DP-4), a measure of neurodevelopmental functioning, in individuals with DEE and/or PIMD (Mdn = 8.4 years, range 1-50, 54% female). Two hundred and nineteen caregivers completed the DP-4 during a larger online survey, DEE Parents Speak. In this etiologically diverse sample, neurodevelopmental functioning was very low, with norm-referenced scores at the floor for greater than 50% of individuals on all subscales (age equivalencies 6-10 months). Rasch analysis of DP-4 scores, comparison by known groups, and comparison with other measures of functional abilities suggest initial evidence of construct and convergent validity. During focus groups and interviews, caregivers reported DP-4 components that were relevant for their child and threats to content validity. The DP-4 may be a valid measure of neurodevelopment for individuals with PIMD and/or DEE in clinical care and trials, although additional study is necessary, especially to evaluate responsiveness to change.

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.

BackgroundIn children with Rett syndrome, this study aimed to (1) describe gross motor skill trajectories; and (2) analyse the influences of genetic variant and comorbidities.MethodsThis was a prospective longitudinal study conducted at the Danish National Center for Rett Syndrome 2008 to 2022. The Rett Syndrome Gross Motor Scale (RSGMS) was administered, and clinical data collected at each visit. Mixed-effects linear regression models were used to analyze the effects of age, genetic variant and comorbidities on gross motor skills. Clinical records data were reviewed.ResultsData for 33 children with a mean age of 7.3 years (SD 1.2) at first visit were followed for a mean duration of 6.8 years (SD 2.1). The mean RSGMS score was 24.0 (SD 13.2, total of 45) at baseline. Adjusting for age and genetic variant, all severity levels of epilepsy, autonomic breathing dysfunction and scoliosis, except for surgically corrected scoliosis, were associated with a 4-point decrease in RSGMS score every 5 years. Acute escalation of seizures, change in muscle tone, orthopedic surgeries and bone fracture could be associated capacity to maintain gross motor skills.ConclusionWe identified decline in gross motor skills during childhood. This novel natural history data can assist with interpretation of changes in gross motor skills following the administration of new therapeutics.

Sleep disturbance is a common and significant issue for individuals with CDKL5 Deficiency Disorder (CDD) and their families. The study aimed to investigate experiences of sleep disturbance in CDD and associated factors. Data were sourced from the baseline and follow-up questionnaires completed by caregivers of 258 individuals in the International CDKL5 Disorder Database. Outcome variables were scaled scores for selected domains of the Sleep Disturbance Scale for Children: Disorders of Maintaining Sleep (DIMS), Disorders of Excessive Somnolence (DOES), Sleep Breathing Disorders (SBD), and Sleep-Wake Transition Disorders (SWTD). For DIMS and SBD, t scores were calculated and dichotomised into high (≥ 70) and low (< 70) groups. Through univariable and multivariable Poisson and logistic regression analyses, the relationships between the sleep disturbance domains and covariates, including sex, age group, genetic variant, motor skills, seizure frequency and patterns, medication use and side effects, constipation, and emotional behaviours, were examined. Caregivers also provided qualitative data on their children’s sleep abnormalities. Content analysis assessed caregivers’ responses to the prompt, “Is there anything about your child’s sleeping that you consider unusual or problematic?”. Individuals ≥18 years old had an adjusted mean DIMS scaled score 6.49 (95

Information on factors contributing to quality of life (QOL) informs meaningful patient-centred care. We evaluated factors influencing QOL in individuals with developmental and epileptic encephalopathy (DEE) and other severe neurodevelopmental encephalopathy conditions using hypothesis-free regression tree analysis. A questionnaire was completed by 242 caregivers of individuals two years or older. QOL was measured using the Quality of Life Inventory-Disability (QI-Disability). Independent variables described health, functional abilities and daily activities. The R package rpart was used to build the regression trees to explore the most influential factors associated with QOL. Median age was 8.8y (interquartile range 4.6–14.9 y). Mean total QI-Disability score was 60.2 ± 14.1 out of a total possible score of 100. The subgroup with the lowest QOL scores comprised individuals with low (raw score < 4) cognition scores measured with the Developmental Profile-4 (n = 52, mean score 46.4) whereas higher QOL scores were achieved by individuals with higher cognition scores and capacity to engage actively when using a touchscreen (n = 123, mean score 67.5). Regression tree analysis suggests that cognition and use of touchscreens were important factors for QOL. Findings suggest small neurodevelopmental and functional gains may meaningfully improve quality of life for individuals with severe neurodevelopmental encephalopathy. People with severe neurodevelopmental conditions experience challenges that affect their everyday lives, including difficulties with health, functional abilities and independence in activities of daily living. There is limited understanding of what impacts quality of life in this population. In this study, caregivers of 242 individuals with severe neurodevelopmental conditions completed a questionnaire to capture the child’s quality of life, health, everyday functioning and daily activities. The analysis searched for the factors from other measures administered that were important in predicting quality of life. The most important domain predicting the total quality of life score was cognition. Individuals with lower cognition scores had lower quality of life scores while those with higher cognition scores, particularly those with ability to participate in touchscreen activities, had higher quality of life scores. Findings suggest the value of monitoring and supporting even small functional gains in alertness and hand function skills to enable more engagement with people and objects may meaningfully improve quality of life.

Young people with intellectual disability experience higher risks for chronic health conditions than their peers. Improving their health literacy could be a strengths-based approach for reducing these risks. However, there is limited research that explores the perspectives of young people with intellectual disability on their health literacy. Given the limited research centring on the voice of young people with intellectual disability, this study examined their health literacy from their own perspectives. We had two aims: (i) explore the health literacy skills and needs of young people with intellectual disability and (ii) apply an adaptive interviewing approach and describe insights about its effectiveness. The adaptive interviewing method included visual materials and communication partners as needed. Sixteen young people with intellectual disability aged between 12 and 22 years who communicated with words or nonverbally were interviewed online. Data was coded using directed content analysis following the framework of the Health Literacy Questionnaire. The findings showed variation in the participants' health literacy skills regarding relationships with healthcare professionals, managing health, and understanding health information. The results suggest that the health literacy skills of young people with intellectual disability are diverse, with different support needs. Targeted health promotion strategies are needed to meet these diverse needs. The adaptive interviewing was successful in capturing young people's perspectives. With further refinements, including use of in-person and repeat interviews, this approach can be further utilized to enhance the accessibility of research.

The capacity for children to self-regulate is an important developmental task of early childhood, with caregivers playing an integral role in self-regulation development. While caregivers' emotions and behaviors are known to impact child self-regulatory capacity, the impact of child self-regulation difficulties on parents is less understood. This study explored parents' experience of child self-regulation difficulties using semi-structured qualitative interviews with 23 parents (87% female; 90% European Australian; M age = 35.95) of children (aged 5 years and under) in Australia. Five key themes were identified through thematic analysis: 'supporting child self-regulation is hard', 'takes a toll on parents', 'challenging for parents to self-regulate', 'relationships change', and 'daily life needs to change'. This research highlights the need for programs that support parents with children experiencing self-regulation difficulties.

This is the largest study to date to investigate the acquisition, retention and loss of functional skills in MECP2 duplication syndrome (MDS). Females were more likely than males to acquire gross and fine motor skills. Use of words was the most common parent-reported skill regression. Those with seizures had lower functional ability than those without seizures. There is a need for better understanding of the role of interventional therapy for functional skill retention in MDS. 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