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

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.

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.

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.

OBJECTIVE:The transport of sick newborn infants with respiratory distress leads to unwanted stress at time of physiological instability. There is dearth of studies to evaluate these stress levels. This pilot prospective observational before-after study aimed to evaluate the plasma cortisol levels (as surrogate marker of stress) in infants with respiratory distress during different phases of neonatal transport. METHODS:Plasma cortisol was measured before transport, on arrival at tertiary hospital, and after 48 hours. Perinatal demographics and retrieval and disease characteristics were collected from neonatal transport and neonatal intensive care unit records. Neonatal transport factors that may affect the cortisol response were also evaluated. RESULTS:A total of 55 infants were recruited, of which 40 infants who had cortisol levels measured in all the 3 phases of neonatal transport were included in the final analyses. Median (interquartile range) cortisol levels measured before transport, on arrival at tertiary hospital, and after 48 hours were 520 (250-770) nmol/L, 315 (172.5-520) nmol/L, and 125 (70-250) nmol/L. There was a reduction in the paired median cortisol levels between the sample taken before transport and arrival at a tertiary hospital by 24% (P = .048) and at 48 hours by 73% (P < .001). Gestational age, gender, duration of respiratory support, and transport duration did not alter the change in cortisol levels. CONCLUSION:Neonatal transport does not seem to influence the anticipated fall in plasma cortisol levels post-birth in infants with respiratory distress. Future studies with larger sample size using both behavioral and physiological parameters for stress evaluation in neonatal transport are warranted.

CDKL5 deficiency disorder is a rare and severe developmental and epileptic encephalopathy that has profound effects on communication. It is essential that communication be measured accurately for upcoming gene therapy trials. The Communication Inventory Disability-Observer Reported (CID-OR) was developed from a framework of communication derived from parent/caregiver interview data (n = 23), in consultation with disability and communication experts, and after reviewing concepts in existing measures. In this study, parents and caregivers (n = 21) took part in 1-hour semistructured think-aloud online interviews. A directed content analysis was conducted using both deductive and inductive coding. Findings suggest that CID-OR was comprehensive, comprehensible, and relevant. Multiple small adjustments were made to improve clarity and representativeness and reduce caregiver burden based on feedback in the data. This content validity study is an important element in the process of developing an effective measure of communication of people with CDKL5 deficiency disorder.

Objectives The primary objective was to determine whether a behaviour change intervention delivered to hospital staff would (1) improve the proportion of Aboriginal and/or Torres Strait Islander (Aboriginal) babies being registered and (2) reduce hospital admissions and emergency presentations for babies <6 months old. The secondary objective was an observational analysis to determine factors that might influence the proportion of registered Aboriginal births in Western Australia (WA).Design Quasi-experimental design and cohort study.Setting Five tertiary birthing hospitals in WA.Participants The intervention was delivered to health service providers who were in the five tertiary birthing hospitals. Outcome data were collected on Aboriginal babies born between 1 January 2016 and 30 June 2018 who were delivered within these hospitals. Babies in the control group (n=226) were born 6 months before the intervention and intervention babies (n=232) were born 6 months following the intervention. For the secondary objective, there were 4573 babies included in the analysis.Interventions A behaviour change intervention delivered to hospital staff in five hospitals.Primary and secondary outcome measures The primary outcomes were the proportion of babies who were registered and whether a baby had been admitted to hospital or an emergency department by 3 and 6 months old. The secondary outcome was to determine factors that might influence the proportion of registered Aboriginal births in WA (cohort study).Results There was evidence of a 38% reduction in emergency presentations within 6 months for babies born to hospitals 6 months following the staff training (OR 0.62, 95% CI 0.42 to 0.91), and little evidence of improvements in birth registrations, hospital admissions within 3 or 6 months of birth or emergency department presentations within 3 months of birth. Of the 4573 babies included in the cohort study, 3769 (82.4%) babies had their births registered and 804 (17.6%) babies did not. Factors that were associated with not having a birth registered included low birth weight babies with a 34% decrease in odds of having a registered birth compared with those with a normal birth weight (adjusted OR (aOR) 0.66, 95% CI 0.51 to 0.86). Timing of first antenatal visit was associated with reduced odds of having a birth registered if this occurred in the second (aOR 0.77, 95% CI 0.64 to 0.93) or third trimester (aOR 0.59, 95% CI 0.45 to 0.77) compared with the first trimester.Conclusions Our study identifies the complexities surrounding birth registrations and improved hospital utilisation for Aboriginal babies, the importance of targeted interventions and ongoing efforts needed to address this issue comprehensively.Trial registration number ACTRN12615000976583.

CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Greater understanding of the smallest meaningful improvements for individuals with CDD in clinical trials and practice is needed for a person-centred approach to treatment efficacy. This study explored how parent/caregivers of people with CDD understood meaningful improvements and described change for priority functional domains including communication, gross motor, fine motor, feeding. This study included an in-person workshop and a convergent mixed-methods online survey. Parent/caregivers (n = 19) attending the 6th Family Educational and Awareness Conference for CDD participated in discussion groups for the workshop component. The survey (n = 80) collected descriptive data and open-ended responses. Qualitative data were stratified by ability levels and analysed using a conventional content analysis. Definitions of meaningful improvement varied in terms of desired speed and magnitude of change and included health and skill stability. Parent/caregivers described meaningful increases in developmental skills that were specific to each domain and level of ability. Some concepts were common across ability levels within domains (e.g., increased independence across all gross motor levels) and others were consistent across domains (e.g., improved utensil use in fine motor and feeding domains). Meaningful improvement means different things to different people with some factors consistent regardless of ability level suggesting important underlying concepts for measurement requiring future investigation. These findings can contribute to the development of clinical treatments and trials that focus on factors that are important to people with CDD and their families.

CDKL5 Deficiency Disorder (CDD) is a rare neurodevelopmental disorder characterised by early onset seizures combined with complex healthcare needs and developmental impairment that influence functional domains including communication. Communication is a high priority domain for families but currently used measures demonstrate floor effects. Emerging disease-modifying trials necessitate the precise and granular measurement of communication to determine drug efficacy. This study evaluated a new measure of communication for CDD called the Communication Inventory Disability – Observer Reported (CID-OR). CID-OR was developed using a communication framework for CDD created from qualitative data and informed through evaluation of current measures and consultation with clinical experts. Scores for items describing communicative purpose were derived from ratings of consistency and the mode of delivery. An online survey was administered to parents of people with CDD (n = 184) recruited from the International CDKL5 Clinical Research Network. Most caregivers (96

BACKGOUND:To evaluate the psychometric properties of the Quality of Life Inventory -Disability (QI-Disability) for individuals with Dravet syndrome (DS) or Lennox-Gastaut syndrome (LGS), two rare developmental and epileptic encephalopathy conditions. METHODS:Cross-sectional data for individuals were drawn from the Adelphi DS & LGS Disease Specific Programme including the caregiver-reported QI-Disability and EQ-5D-5L, and physician-reported (7-point Likert scale) rating or quality of life. Factor structure of the QI-Disability was assessed using confirmatory factor analysis with goodness-of-fit statistics and internal consistency was assessed using Cronbach's alpha. Convergent validity was assessed by evaluating relationships between QI-Disability, EQ-5D-5L scores, and physician QOL ratings. RESULTS:There were 154 patients with DS and 196 patients with LGS. The mean (SD) total QI-Disability score was 57.3 (SD 11.9) for DS and 58.9 (SD 13.8) for LGS. Fit statistics for the 6-factor QI-Disability model were mostly satisfactory; the factor loading for one item was unsatisfactory. Good internal consistency (alpha > 0.7) was found for all QI-Disability domains and for the total score in both LGS and DS groups. Convergent validity was demonstrated with correlations being as expected between QI-Disability and EQ-5D-5L scores, for example, strong correlations between the QI-Disability Physical Health and EQ-5D pain/discomfort dimension scores. There was a mean increase of approximately 3 points in the QI-Disability total score per unit category change in the physician-rated QOL scale. CONCLUSIONS:QI-Disability had mostly satisfactory evidence of validity and reliability for DS and LGS and appears suitable for use in clinical practice and clinical trials.

BACKGROUND:CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy (DEE) associated with multiple impairments and comorbidities. Outcome measures for disease-modifying clinical trials for DEEs should measurably capture a spectrum of caregiver priorities and be externally validated. METHODS:The International CDKL5 Clinical Research Network was the data source for this observational study. A Structural Equation Model was constructed with latent, exogenous variables related to observed clinical features to calculate a global severity score from the following assessments: the CDKL5 Clinical Severity Assessment-Clinician and -Caregiver, Communication and Symbolic Behavior Scales Developmental Profile Infant Toddler Checklist and the Sleep Disturbance Scale for Children. Quantitative EEG power was measured as a biomarker. The Quality of Life Inventory-Disability measured quality of life. RESULTS:Acceptable fit statistics for models were obtained using data from 206 subjects (median [range] age 6.8 [3 months to 40] years). Motor and communication measures were the most important weighted contributors to the global severity score which correlated well with the biomarker and quality of life to support external validation. CONCLUSIONS:The resultant global severity score provided evidence that the assessments formed a coherent set of measures that reliably and meaningfully captured the diversity of severity in CDD. The models illustrated how the symptoms form a measurable network of relationships which may be suitable as an outcome measure for CDD and DEEs more broadly in clinical trials.

Attention-Deficit/Hyperactivity Disorder (ADHD)/Hyperkinetic Disorder (HD) is linked to increased risks of morbidity, comorbidity and mortality, with higher prevalence in clinical populations. The differential prevalence of ADHD/HD across adult and pediatric clinical populations, influenced by factors such as time trends, sex, age, geographic regions, and comorbidities, has not been systematically assessed. MEDLINE, CINAHL, Embase and PsycINFO databases were searched from inception to 1st August 2023 for eligible full-text papers published in English, and reviewing reference lists of identified studies and review papers. Studies reporting ADHD/HD prevalence in adult and pediatric clinical populations were included. Meta-regression evaluated the effects of geographic region, year of publication and sample size. From 30,740 citations, we reviewed 521 full-text articles, yielding 311 studies for inclusion (including 653,558 pediatric and 43,311 adult participants). Overall, worldwide pooled prevalence of ADHD/HD in clinical settings for pediatrics was 32.4% (95% CI 31–34%), and in adults 21.4% (95% CI 20–23%). Prevalence was higher in outpatient settings than inpatient settings. Prevalence based on rating scales was higher than studies using diagnostic interviews or clinical record review. Prevalence varied significantly across subspecialist settings for children and adults. No significant time trend was detected between 1981–2023. Pediatric prevalence appears influenced by geographic region but not year of publication or sample size. For adults, larger sample sizes were associated with lower prevalence estimates. ADHD/HD prevalence in clinical populations is 8-9-fold higher than community estimates. With these patients at risk for many adverse outcomes, our findings underscore the critical importance of resource allocation for screening, diagnosing and treatment.

This study aims to describe the risk factors and trends in birth prevalence of septo-optic dysplasia (SOD) and gastroschisis between 1980 and 2023. This descriptive, population-based study of SOD and gastroschisis used Western Australian Register of Developmental Anomalies data from 1980 to 2023. Birth prevalence was calculated using Midwives Notification System data for all births after 20 weeks gestation. Relative risk (RR) for SOD and gastroschisis showed risk by maternal age. SOD and gastroschisis occurred in 99 and 391 cases respectively (no dual diagnoses), with a birth prevalence of 1.41 and 3.71 per 10,000 respectively (from 2010 to 2019), and have been stable since 2010. For the study period, younger maternal age (under 25 years old) increased the risk of SOD and gastroschisis (RR, 3.28 [95

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. Children (2-19 years) with genetically confirmed CDD and >= 16 major motor seizures per month were enrolled in a double-blind randomized placebo-controlled trial. Ganaxolone or placebo was administered three times daily for 17 weeks. Behaviour was measured with the Anxiety, Depression and Mood Scale (ADAMS), daytime sleepiness with the Child Health Sleep Questionnaire, and quality of life with the Quality of Life Inventory-Disability (QI-Disability) scale. Scores were compared using ANOVA, adjusted for age, sex, number of anti-seizure mediations, baseline 28-day major motor seizure frequency, baseline developmental skills, and behaviour, sleep or quality of life scores. 101 children with CDD (39 clinical sites, 8 countries) were randomized. Median (IQR) age was 6 (3-10) years, 79.2 % were female, and 50 received ganaxolone. After 17 weeks of treatment, Manic/Hyperactive scores (mean difference 1.27, 95%CI -2.38,-0.16) and Compulsive Behaviour scores (mean difference 0.58, 95%CI -1.14,-0.01) were lower (improved) in the ganaxolone group compared with the placebo group. Daytime sleepiness scores were similar between groups. The total change in QOL score for children in the ganaxolone group was 2.6 points (95%CI -1.74,7.02) higher (improved) than in the placebo group but without statistical significance. Along with better seizure control, children who received ganaxolone had improved behavioural scores in select domains compared to placebo.

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. Caregivers registered with the International CDKL5 Clinical Research Network uploaded motor videos filmed at home to a protected server and completed a feedback questionnaire (n = 70). Rasch (n = 137), known groups (n = 109), and intra- and inter-rater reliability analyses (n = 50) were conducted. RESULTS:The age of individuals with CDD ranged from 1.5 to 34.1 years. The modified scale, Gross Motor-Complex Disability (GM-CD), comprised 17 items. There were no floor or ceiling effects and inter- and intra-rater reliability were good. Rasch analysis demonstrated that the items encompassed a large range of performance difficulty, although there was some item redundancy and some disordered categories. One item, Prone Head Position, was a poor fit. Caregiver-reported acceptability was positive. Scores differed by age and functional abilities. SUMMARY:GM-CD appears to be a suitable remotely administered measure and psychometrically sound for individuals with CDD. This study provides the foundation to propose the use of GM-CD in CDD clinical trials. Longitudinal evaluation is planned.

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. We used longitudinal regression models stratified by offspring sex to examine associations between the number, type and timing of maternal prenatal stress events and the likelihood of any OM in addition to recurrent OM infection at age three and five years, adjusting for pre-specified prenatal sociodemographic and environmental confounders. RESULTS:Each additional stressful life event in pregnancy was associated with increased risk of any OM at both ages (3 years: OR = 1.07, 95%CI = 1.02, 1.12; 5 years: OR = 1.07, 95%CI = 1.02, 1.12), with larger effect sizes for recurrent otitis media (3 years: OR = 1.11, 95%CI = 1.05, 1.17; 5 years: OR = 1.09, 95%CI = 1.04, 1.14). Risk of offspring otitis media did not differ with timing of stress nor by offspring sex. Specific types of stress (pregnancy and relationship problems, issues with other children) were each associated with increased risk of recurrent OM at age three and five years. CONCLUSIONS:We observed a dose-response relationship between maternal stressful life events in pregnancy and the risk for offspring otitis media in the preschool years, most marked for recurrent otitis media.

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. The aim of this descriptive qualitative study was to understand how individuals with CDD communicate, as observed by caregivers. Participants were identified through the International CDKL5 Disorder Database and invited to take part if their child had a pathogenic variant of the CDKL5 gene and they had previously completed the Communication and Symbolic Behavior Checklist (CSBS-DP ITC). The sample comprised caregivers of 23 individuals with CDD, whose ages ranged from 2 to 30 years (median 13 years), 15 were female, and most did not use words. Semistructured interviews were conducted via videoconference and analyzed using a conventional content analysis. Three overarching categories were identified: mode, purpose and meaning, and reciprocal exchanges. These categories described the purposes and mechanism of how some individuals with CDD communicate, including underpinning influential factors. Novel categories included expressing a range of emotions, and reciprocal exchanges (two-way interactions that varied in complexity). Caregivers observed many communication modes for multiple purposes. Understanding how individuals with CDD communicate improves understanding of the condition and will guide research to develop accurate measurement for clinical practice and upcoming medication trials.

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. Twenty-one participants repeated the EQ-5D-Y-5L a few weeks later. Test -retest reliability was computed using weighted kappa and intraclass correlation coefficients, and convergent validity using Spearman's and Pearson's correlation coefficients. Results: Caregivers of 234 children completed the survey, with <1% missing values. Only 1.7% reported "no problems" on all dimensions (11111). The dimensions with the lowest percentage of "no problems" were SC and UA (both 8%). Test -retest reliability coef ficients were fair to substantial for 4 dimensions (weighted kappa .30 to .79) but low for PD and overall health, as measured by the visual analog scale (EQ-VAS). Convergent validity was strong (Spearman's correlation .65 to .87) for mobility, SC, and PD; moderate to strong for worry/sadness/unhappiness (.47 to .60) and the EQ-VAS (Pearson's correlation .49); and weak to moderate for UA (.21 to .52). Conclusions: Convergent validity was generally good; test -retest reliability varied. Children with ID had lower scores on SC and UA than other populations, and their EQ-VAS could fluctuate greatly, indicating poorer and less stable health -related quality of life.

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. METHODS:Participants were recruited from the International CDKL5 Clinical Research Network to take part in an in-clinic CCSA-Clinician evaluation (n = 148) and/or complete the CCSA-Caregiver questionnaire (n = 198). CFA was used to determine domains, and factor loadings and validity were assessed. For the CCSA-Clinician, inter-rater reliability was assessed by nine CDD experienced clinicians via 14 pre-recorded evaluations. Eight clinicians re-viewed and re-scored the videos after 4 weeks to evaluate intra-rater reliability. The CCSA-Caregiver was completed on a second occasion by 34 caregivers after 2-4 weeks to assess test-retest reliability. RESULTS:CFA resulted in three domains for the CCSA-Clinician (motor and movement, communication, vision) and four domains for the CCSA-Caregiver (seizures, behavior, alertness, feeding), with good item loadings across both measures. Structural statistics, internal consistency, discriminant validity, and reliability were satisfactory for both measures, and scores were consistent between known groups. SIGNIFICANCE:This study provides strong evidence that the CCSA measures are suitable to assess the clinical severity of individuals with CDD, supporting their use in clinical trials. Further evaluation of responsiveness to change in a longitudinal assessment is planned. Use may also be appropriate in similar DEEs but would require validation in those populations.

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). A self-controlled case series analysis using Poisson regression was used to estimate the age-adjusted associations of complex hip surgery on all-cause hospitalizations and when the principal diagnosis was lower respiratory tract infection or epilepsy, for periods following the individual's first major hip surgery, compared with the year before surgery. RESULTS:Age adjusted incidence of all-cause hospitalizations decreased after surgery (year 1: incidence rate ratio [IRR] 0.87 [95% CI, 0.74-1.02]; year 6: IRR 0.57 [95% CI, 0.46-0.72]). The incidence of hospitalizations for lower respiratory tract infection increased (year 1: IRR, 1.03 [95% CI, 0.72-1.51]; year 6: IRR 2.08 [95% CI, 1.18-3.68]). The incidence of hospitalizations for epilepsy decreased (year 1: IRR 0.93 [95% CI, 0.57, 1.54]; year>6: IRR 0.72 [95% CI, 0.34-1.55]) after surgery. A similar pattern was observed for the subset of children with or without cerebral palsy. CONCLUSION:Complex hip surgeries are associated with fewer hospitalizations overall but not respiratory hospitalizations for children with intellectual disability. Fewer hospitalizations suggest benefits for better musculoskeletal alignment.