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Children and adolescents with Intellectual Disability (ID) experience a worse Quality-of-Life (QoL) relative to typically developing peers. Thus, QoL evaluation is important for identifying support needs and improving rehabilitation effectiveness. Nevertheless, currently in Italy there are not tools with this scope. This study aims to translate and cross-culturally adapt the Quality-of-Life Inventory-Disability (QI-Disability) into Italian. The process consisted in forward-backward translation, cross-cultural adaptation and cognitive debriefing. Eventually, QI-Disability was conceptually and semantically equivalent to the original one. A validation study is necessary to make the tool available in Italian clinical practice and educational contexts to improve these children's QoL.

Background: Involvement in healthcare decisions is associated with better health outcomes for patients. For children and adolescents with intellectual disability, parents and healthcare professionals need to balance listening to a child's wishes with the responsibility of keeping them safe. However, there is a scarcity of literature evaluating how to effectively involve them in decision making. In this context, we review the concept of health literacy, focusing on the skills of healthcare decision making for children and adolescents with intellectual disability., Methods: We describe the concept of health literacy and models explaining shared decision making (individuals and healthcare professionals collaborate in decision making process) and supported decision making (when a trusted person supports the individual to collaborate with the healthcare professional in the decision-making process), and a rapid review of the literature evaluating their efficacy. We discuss healthcare decision making for children and adolescents with intellectual disability in the context of relevant recommendations from the recent Disability Royal Commission into Violence, Abuse, Neglect, and Exploitation of People with Disability in Australia., Results: Health literacy skills enable individuals to access, understand, appraise, remember and use health information and services. Shared decision making has been described for children with chronic conditions and supported decision making for adults with intellectual disability. Decision-making contributes to how individuals appraise and use healthcare. The rapid review found very limited evidence of outcomes where children and adolescents with intellectual disability have been supported to contribute to their healthcare decisions. Recommendations from the Disability Royal Commission highlight current needs for greater efforts to support and build the capacity of individuals with disability to be involved in the decisions that affect their life, including healthcare decision making., Conclusions: Existing rights frameworks and healthcare standards confirm the importance of providing all people with the opportunities to learn and practise health literacy skills including decision making. There is little literature examining interventions for healthcare decision making for children with intellectual disability. Childhood is a critical time for the development of skills and autonomy. Evidence for how children and adolescents with intellectual disability can learn and practice healthcare decision-making skills in preparation for adulthood is needed to reduce inequities in their autonomy., (© 2024. The Author(s).)

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 coefficients 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., Competing Interests: Author Disclosures Author disclosure forms can be accessed below in the Supplemental Material section., (Copyright © 2024. Published by Elsevier Inc.)

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., Methods: A proxy report EQ-5D-Y-5L was administered to caregivers of children with ID. Using cognitive think-aloud interviewing, participants were encouraged to provide the reasoning for their choices, assess the questions' relevance, comprehensibility, and comprehensiveness, and comment on the tool's strengths and weaknesses. Qualitative content analysis used both directed (deductive) and conventional (inductive) methods., Results: There were 28 interviews with 30 caregivers of children with ID (aged 8-22 years, 17 boys, with autism spectrum disorder, cerebral palsy, Down syndrome, and rare genetic disorders). The EQ-5D-Y-5L was considered clear, concise, and largely relevant, but insufficiently comprehensive for this population. Interviewees sought clarification of the definition of HRQoL, whether it included unchanging impairments (vs fluctuating health states), and what basis of comparison to use (child or peer). Many interviewees suggested inclusion of questions for other domains, including communication and social engagement, equipment and human supports required, and a wider range of mental health questions., Conclusions: The study suggests that further work is required to ensure accurate responses to the EQ-5D-Y-5L from caregivers of children with ID and to describe these children adequately., Competing Interests: Author Disclosures Links to the individual disclosure forms provided by the authors are available here., (Copyright © 2023 International Society for Pharmacoeconomics and Outcomes Research, Inc. Published by Elsevier Inc. All rights reserved.)

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., Results: The mean (SD) total QOL score was 67.8 (13.4), ranging from 60.3 (14.6) for CDD to 77.5 (11.7) for Down syndrome. Three classes describing domain scores were identified: Class 1 was characterised by higher domain scores overall but poorer negative emotions scores; Class 2 by average to high scores for most domains but low independence scores; and Class 3 was characterised by low positive emotions, social interaction, and leisure and the outdoors scores, and extremely low independence scores. The majority of individuals with autism spectrum disorder and Down syndrome belonged to Class 1 and the majority with CDKL5 deficiency disorder belonged to Class 3. Those with better functional abilities (verbal communication and independent walking were predominately members of Class 1 and those with frequent seizures were more often members of Class 2 and 3., Conclusion: The profiles illustrated variation in QOL across a diverse group of children. QOL evaluations illustrate areas where interventions could improve QOL and provide advice to families as to where efforts may be best directed., (Copyright © 2022 Elsevier Ltd. All rights reserved.)

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. The Quality of Life Inventory-Disability (QI-Disability) questionnaire was used to assess child QoL. Independent variables described the child's health, functional abilities, community participation, and sociodemographics. The R package rpart was used to build the regression trees., Results: The mean total QI-Disability score was 69.2 out of a maximum 100. The subgroup with the lowest QoL scores comprised children with a high degree of daytime sleepiness (n=74, mean 57.5) while the subgroup with the highest QoL scores (n=91, mean 80.3) comprised children with little daytime sleepiness who participated more frequently in community activities and displayed good eye contact while listening., Interpretation: Regression tree analysis provides insights into the relative importance of associated factors. Sleep problems and community participation were more important than functional abilities in accounting for differences in QoL., What This Paper Adds: A hypothesis-free regression tree analysis enables examination of multiple factors potentially influencing quality of life (QoL) in children with intellectual disability. Functional abilities were less strongly associated with QoL than sleep problems and community participation., (© 2022 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.)

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000. The key features of MDS include intellectual disability, developmental delay, hypotonia, seizures, recurrent respiratory infections, gastrointestinal problems, behavioural features of autism and dysmorphic features-although these comorbidities are not yet understood with sufficient granularity. This review has covered the past two decades of MDS case studies and series since the discovery of the disorder in 1999. After comprehensively reviewing the reported characteristics, this review has identified areas of limited knowledge that we recommend may be addressed by better phenotyping this disorder through an international data collection. This endeavour would also serve to delineate the clinical overlap between MDS and RTT., (© 2022. The Author(s).)

Children with intellectual disabilities are more likely to experience sleep disorders of insomnia, excessive daytime sleepiness and sleep breathing disorders than typically developing children. The present study examined risk factors for these sleep disorders in 447 children (aged 5-18 years), diagnosed with an intellectual disability and comorbid autism spectrum disorder, cerebral palsy, Down syndrome or Rett syndrome. Primary caregivers reported on their child's sleep using the Sleep Disturbance Scale for Children (SDSC), as well as medical comorbidities and functional abilities. Multivariate linear and logistic regressions were used to examine the effects of these factors on SDSC t scores and a binary indicator, respectively for the relevant subscales. Receiving operating characteristic curves were generated for each logistic regression model to determine their ability to discriminate between poor and good sleep. Comorbidities rather than functional abilities were associated with poorer sleep. In particular, recurrent pain, frequent seizures, frequent coughing, constipation and prescription of sleep medications were associated with abnormal sleep across the entire sample, but predictors differed between diagnostic groups. The present study suggests that comorbidities are more strongly associated with quality of sleep than functional impairments. The present study provides new information on potential associations between frequent coughing, prescription sleep medications and sleep quality that should be further investigated., (© 2021 European Sleep Research Society.)

Background: Many children with intellectual disability live with medical comorbidities. This study examined the impacts of comorbidities on quality of life (QOL) of children with intellectual disabilities and whether impacts varied with caregiver perceptions that medical needs had been met., Methods: Primary caregivers of 447 children (aged 5-19 years) with an intellectual disability reported on their child's medical comorbidities and the extent to which they perceived their child's medical needs had been met in a cross-sectional observational study. The Quality of Life Inventory-Disability was used to measure QOL on a 100-point scale. Linear regression models including interaction terms were used to evaluate their associations., Results: Parent-reported recurrent child pain (-4.97, 95% CI -8.21, -1.72), night-time sleep disturbances (-4.98, 95% CI -7.23, -2.73), daytime somnolence (-8.71, 95% CI -11.30, -2.73), seizures that occurred at least weekly (-7.59, 95% CI -13.50, -1.68) and conservatively managed severe scoliosis (-7.39, 95% CI -12.97, -1.81) were negatively associated with child QOL. Despite the majority of parents (~70%) perceiving that their child's medical needs had been met to a great extent, this did not significantly moderate the association between any comorbidities and QOL., Conclusions: Comorbidities were common and had marked associations with QOL. Evaluation and management of pain and sleep disturbance continue to be high priorities in improving QOL of young people with intellectual disabilities. Further research on the optimal methods of managing these comorbidities is warranted., (© 2021 John Wiley & Sons Ltd.)

Aims: To investigate associations between functioning, community participation, and quality of life (QoL) and identify whether participation mediates the effects of functioning on QoL., Method: The caregivers of 435 children (211 females, 224 males; mean age 12y; SD 3y 11mo; age range 5-18y) with intellectual disability and autism spectrum disorder, cerebral palsy, Down syndrome, or Rett syndrome reported on their child's functioning (dependence for managing personal needs, mobility, communication, eye contact when speaking), frequency of participation, and QoL. Linear regression and mediation analyses were used to evaluate the relationships between child functioning, participation, and QoL., Results: Children with greater dependency for managing personal needs and limited eye contact when speaking experienced poorer QoL. Less impaired functioning was associated with more frequent participation, which, in turn, was associated with a 3-point gain in QoL for each additional point in frequency of participation (coefficient=2.67, 95% confidence interval 1.56-3.78). The effect of impaired functioning on QoL was partially mediated by participation in children with greater dependency in managing personal needs and those with mildly impaired communication., Interpretation: Greater levels of impairments with poorer functioning, notably a high level of dependence, were associated with poorer QoL. Poorer QoL can be partly explained by less frequent community participation., (© 2020 Mac Keith Press.)

Background: Children and adolescents with intellectual disability are at risk of developing psychiatric symptoms and disorders; yet, the estimates reported in the literature have been inconsistent, presenting a potential barrier for service planning and delivery. Sources of variability could arise from differences in measurement instruments as well as subgroup membership by severity of intellectual disability, gender and age. This systematic review aimed to address these gaps., Method: MEDLINE and PsycINFO databases were searched from inception to 2018 and selected studies were reviewed. Studies were included if they reported point prevalence estimates of mental health symptomology or diagnoses in a general population of 6- to 21-year-old individuals with intellectual disability. The Joanna Briggs Institute Prevalence Critical Appraisal Checklist was applied to eligible papers to appraise their scientific strength. Pooled prevalence for mental health symptomology was determined using a random-effects meta-analysis., Results: A total of 19 studies were included, including 6151 children and adolescents. The pooled prevalence estimate captured by the Developmental Behaviour Checklist was 38% (95% confidence interval = [31, 46]), contrasting with 49% (95% confidence interval = [46, 51]) captured by the Child Behaviour Checklist; both rates were higher than a non-intellectual disability population. Severity of intellectual disability did not significantly influence the Developmental Behaviour Checklist risks. Insufficient data were available to conduct statistical analyses on the effects of age, gender and socioeconomic status. Of diagnosed psychiatric disorders, attention deficit/hyperactivity disorder (30%), conduct disorder (3-21%) and anxiety disorders (7-34%) were the most prevalent conditions., Conclusion: This review consists of the largest sample hitherto evaluated. In the intellectual disability population, mental health comorbidities could be better detected by a symptom phenotype than a psychiatric diagnostic phenotype. Crucially, future research needs to address the effect of measurement validity in the intellectual disability population. Estimated prevalence rates were high compared to the general population, indicating the importance of systematic screening, case detection and appropriate management.

Objective: Children with intellectual disability and marked feeding difficulties may undergo gastrostomy insertion to assist with their nutritional and medication needs. Use has increased recently for younger children, and it is intended to provide long-term support. This study explored the perceived value of gastrostomy for the quality of life (QOL) of children with intellectual disabilities and their families., Methods: Twenty-one primary caregivers of children with intellectual disability aged 2-18 years participated in semistructured telephone interviews. Data were analysed using directed content analysis, and data were coded to existing QOL domains relevant to children with intellectual disability and their families., Results: Benefits in each of the child and family QOL domains were represented in the interview data. For children, the impacts of gastrostomy for the physical health domain were predominant, supplemented by experiences of value for emotional well-being, social interactions, leisure activities and independence. For families, gastrostomy was integrated into multiple aspects of QOL relating to family interactions, parenting, resources and supports, health and safety, and advocacy support for disability. Shortcomings related to difficulties with equipment and complications., Conclusions: Our comprehensive overview of the value of gastrostomy for children with intellectual disability and their families was classified within a QOL framework. Gastrostomy was mainly supportive over long time periods across many QOL domains. Findings will be of use to patient counselling and education and the development of family support resources., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

Objective: The behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents with these disorders and compare phenotypic signatures between syndromes., Method: MEDLINE and PsycINFO databases were searched for articles from study inception to December 2018. Eligible articles were peer reviewed, were published in English, and reported prevalence data for psychiatric disorders and symptoms in children and adolescents aged 4 to 21 years using a formal psychiatric assessment or a standardized assessment of mental health symptoms. Pooled prevalence was determined using a random-effects meta-analysis in studies with sufficient data. Prevalence estimates were compared with general population data using a test of binomial proportions., Results: Of 2,301 studies identified for review, 39 articles were included in the final pool, which provided data on 4,039 children and adolescents. Ten syndromes were represented, and five were predominant: Down syndrome, 22q11.2 deletion syndrome, fragile X syndrome, Williams syndrome, and Prader-Willi syndrome. The Child Behavior Checklist was the most commonly used assessment tool for psychiatric symptoms. The pooled prevalence with total scores above the clinical threshold was lowest for Down syndrome (32% [95% confidence interval, 19%-44%]) and highest for Prader-Willi syndrome (74% [95% CI, 65%-82%]) with each syndrome associated with significantly higher prevalence than in the general population. Parallel trends were observed for the internalizing and externalizing domains and social subscale scores., Conclusion: Differential vulnerability for psychiatric phenotype expression across the disorders was observed. Syndromes with higher levels of social ability or competence appear to offer relative protection against developing psychopathology. This preliminary finding merits further exploration., (Crown Copyright © 2020. Published by Elsevier Inc. All rights reserved.)

Objective: To assess responsiveness and reproducibility using the estimates of test-retest reliability for the Quality of Life Inventory-Disability (QI-Disability), accounting for changes in child health and parental stress., Method: Quality of Life Inventory-Disability was administered twice over a 1-month period to a sample of 55 primary caregivers of children (aged 5-19 years) with intellectual disability. Caregivers also reported their child's physical and mental health and completed a 4-item Perceived Stress Scale to assess parental stress. Fixed-effects linear regression models examined responsiveness of QI-Disability to the reported change in child health and parental stress. Reliability was then assessed using intraclass correlations (ICCs) calculated from QI-Disability scores adjusted for changes in child health and parental stress., Results: Five of 7 unadjusted ICC values indicated at least moderate agreement (>0.70), and 2 values indicated fair agreement. After accounting for changes in child health and parental stress, adjusted ICC values showed substantial agreement for the total QI-Disability score and 4 domain scores (adjusted ICC ≥ 0.80). Adjusted ICC scores indicated moderate agreement for the Physical Health domain (adjusted ICC = 0.68) and fair agreement for the Positive Emotions domain (adjusted ICC = 0.58). Improvements in a child's physical health rating were associated with higher total, Physical Health, and Positive Emotion domain scores, whereas improvements in mental health were associated with higher total and Negative Emotions domain scores, indicating better quality of life. Changes in parental stress did not have a statistically significant relationship with quality of life., Conclusion: Satisfactory test-retest reliability was shown. Preliminary evidence indicates that QI-Disability is responsive to changes in child health, but not to differing levels of parental stress.

Background: Adults with intellectual disability experience high rates of falls making falls prevention an important health need. The purpose of the study was to seek perspectives of older adults with intellectual disability and their caregivers to (a) explore the experiences of older adults with intellectual disability when seeking healthcare services after a fall and (b) identify enablers and barriers when taking up evidence-based falls recommendations., Method: A qualitative exploratory study was undertaken as part of a prospective observational cohort study. Semi-structured interviews were conducted with a purposeful sample. Data were analysed thematically using Colaizzi's method., Results: Seventeen interviews were conducted (n = 21). Emergent themes demonstrated that participants had limited knowledge about falls prevention. Enablers included individualizing falls prevention strategies. Barriers included not being offered access to established falls prevention pathways., Conclusion: There is an urgent need to develop high-quality falls prevention services for older adults with intellectual disability., (© 2020 John Wiley & Sons Ltd.)

Aim: To compare hospital admission patterns after the first year of life in Australian children with developmental disabilities and children with no known disability, according to maternal country of birth and Indigenous status., Method: This was a retrospective cohort study using linked data across health, disability, and hospital admission databases. The study investigated 656 174 children born in Western Australia between 1983 and 2008 with a total of 1 091 834 records of hospital admissions., Results: Children with no known disability born to Indigenous mothers had the highest rate of hospital admissions compared to children of non-Indigenous mothers. Children of foreign-born mothers from low-income countries had the highest rate of hospital admissions if disability was present. Children with cerebral palsy (CP) with or without associated intellectual disability had the highest rate of hospital admissions among children with developmental disability, especially if mothers were foreign-born., Interpretation: Children with CP and intellectual disability, particularly from minority backgrounds (Indigenous Australian and foreign-born mothers), were at higher risk of being admitted to hospital after the first year of life., What This Paper Adds: Hospital admissions in Australian children with and without disabilities differ according to maternal country of birth. Hospital admission rates in children without a developmental disability were greatest for Australian-born Indigenous children. Disabled Australian-born children of foreign-born mothers from low-income countries had the highest hospital admission rates. Hospital admission risk was greatest for Australian-born children with cerebral palsy, especially if mothers were foreign-born., (© 2019 Mac Keith Press.)

Objective: To examine the frequency of hospital admissions before and after gastrostomy insertion in children with severe intellectual disability., Study Design: We conducted a retrospective cohort study using linked health administrative and disability data from Western Australia (WA) and New South Wales (NSW). Children born between 1983 and 2009 in WA and 2002 and 2010 in NSW who had a gastrostomy insertion performed (n = 673 [WA, n = 325; NSW, n = 348]) by the end of 2014 (WA) and 2015 (NSW) were included. Conditional Poisson regression models were used to evaluate the age-adjusted effect of gastrostomy insertion on acute hospitalizations for all-cause, acute lower respiratory tract infections (LRTI), and epilepsy admissions., Results: The incidence of all-cause hospitalizations declined at 5 years after procedure (WA cohort 1983-2009: incidence rate ratio, 0.70 [95% CI, 0.60-0.80]; WA and NSW cohort 2002-2010: incidence rate ratio, 0.63 [95% CI, 0.45-0.86]). Admissions for acute LRTI increased in the WA cohort and remained similar in the combined cohort. Admissions for epilepsy decreased 4 years after gastrostomy in the WA cohort and were generally lower in the combined cohort. Fundoplication seemed to decrease the relative incidence of acute LRTI admissions in the combined cohort., Conclusions: Gastrostomy was associated with health benefits including reduced all-cause and epilepsy hospitalizations, but was not protective against acute LRTI. These decreases in hospitalizations may reflect improved delivery of nutrition and medications., (Crown Copyright © 2019. Published by Elsevier Inc. All rights reserved.)

Aim: The aim of this study was to assess the incidence and prevalence of MECP2 duplication syndrome in Australian children and further define its phenotype., Methods: The Australian Paediatric Surveillance Unit was used to identify children with MECP2 duplication syndrome between June 2014 and November 2017. Reporting clinicians were invited to complete a questionnaire. Clinician data (n = 20) were supplemented with information from the International Rett Syndrome Phenotype Database and from caregivers (n = 7). Birth prevalence and diagnostic incidence were calculated., Results: The birth prevalence of MECP2 duplication syndrome in Australia was 0.65/100 000 for all live births and 1/100 000 for males. Diagnostic incidence was 0.07/100 000 person-years overall and 0.12/100 000 person-years for males. The median age at diagnosis was 23.5 months (range 0 months-13 years). A history of pneumonia was documented in three quarters of the clinical cases, half of whom had more than nine episodes. Cardiovascular abnormalities were reported in three cases. A clinical vignette is presented for one child who died due to severe idiopathic pulmonary hypertension. The majority (13/15) of males had inherited the duplication from their mothers, and two had an unbalanced translocation., Conclusions: MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk. Pulmonary hypertension is a rare life-threatening complication. Array comparative genomic hybridisation testing is recommended for children with undiagnosed intellectual disability or global developmental delay. Early cardiac assessment and ongoing monitoring is recommended for MECP2 duplication syndrome., (© 2019 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).)

Data linkage holds great promise for generating new information about people with intellectual and developmental disabilities (IDD) as a population, yet few centers have developed the infrastructure to utilize this methodology. Two examples, from Canada and Australia, describe their efforts in building data linkage capabilities, and how linked databases can be used to identify persons with IDD and used for population-based research. The value of data linkage is illustrated through new estimates of prevalence of IDD; health service utilization patterns; associations with sociodemographic characteristics, and with physical and mental health conditions (e.g., chronic diseases, injury, fertility, and depression); and findings on equity in medical treatments. Examples are provided of findings used for governmental policy and program planning.

Background: Focus is shifting to better understand the lived experiences of children with intellectual disability in relation to their quality of life (QOL). Yet no available QOL measures are grounded in the domains important for this population. We previously conducted qualitative parent caregiver interviews identifying QOL domains in children with intellectual disability to constitute a new measure of QOL. This study describes the content validity of the Quality of Life Inventory-Disability (QI-Disability), a parent-report measure developed for children with intellectual disability., Methods and Results: Questionnaire items were extracted from a qualitative dataset of 77 parent caregiver interviews. To establish content validation, a draft of QI-Disability was administered to 16 parent caregivers of children with intellectual disability (Down syndrome, Rett syndrome, cerebral palsy, or autism spectrum disorder). Parents participated in a cognitive interviewing procedure known as the "think-aloud" method. The process of item generation, cognitive debriefing, and refinement of QI-Disability prior to its pilot testing are described. A conceptual framework is presented., Conclusions: Satisfactory content validity is reported, where ongoing consumer feedback shaped the dataset from which the final items were selected. Use of QI-Disability for children with intellectual disability will allow for greater insight into service utility and targeted intervention., (© 2019 John Wiley & Sons Ltd.)

Objective: The objective of the review was too synthesize the best available evidence on the incidence and prevalence of falls among adults with intellectual disability (ID)., Introduction: Falls among adults with ID frequently cause physical injury and may negatively impact on their quality of life. Studies investigating falls among people with ID have used differing methods and populations, making it difficult to determine the scope and extent of this problem., Inclusion Criteria: This review considered all studies that included adults with ID aged 18 years and over and which reported percentage/numbers of individuals who fell, and the total number of falls and injurious falls sustained from a fall. Studies were included if they were conducted within community or residential settings. Studies that were conducted in hospitals were excluded. Cohort studies, case-control and cross-sectional studies were included. Studies that used an experimental design, both randomized controlled and quasi experimental design, were also included., Methods: A three-step search strategy was undertaken for published and unpublished literature in English from 1990 to 2017. An initial search of MEDLINE and CINAHL was undertaken before a more extensive search was conducted using keywords and index terms across 11 electronic databases. Two independent reviewers assessed the methodological quality of the included studies using the Joanna Briggs Institute standardized critical appraisal instrument for prevalence studies (Joanna Briggs Institute Critical Appraisal Checklist for Studies Reporting Prevalence Data).Data was extracted using the Joanna Briggs Institute's standardized extraction tool. Data that directly reported or could be used to calculate the incidence and prevalence of falls were extracted. Quantitative data for the number (proportion) of people who fell were pooled in statistical meta-analysis using STATA version 14 (Stata Corp LLC, Texas, USA). Data measuring incidence of falls (rate of falls for the duration of the study) and incidence of injurious falls (rate of falls resulting in one or more injuries for the duration of the study) could not be pooled in meta-analysis, hence results have been presented in a narrative form including tables. Standard GRADE (Grading of Recommendations Assessment, Development and Evaluation) evidence assessment of outcomes is also reported., Results: Nine studies were eligible for inclusion in this review. Eight articles were observational cohort studies which reported on the incidence/prevalence of falls as outcome measures, and one article was a quasi-experimental study design. Overall the methodological quality of the included studies was considered moderate. The pooled proportion of people with ID who fell (four studies, 854 participants) was 39% (95% CI [0.35%-0.43%], very low GRADE evidence). The rate of falls (eight studies, 782 participants) ranged from 0.54 to 6.29 per person year (very low GRADE evidence). The rate of injurious falls (two studies, 352 participants) ranged from 0.33 to 0.68 per person year (very low GRADE evidence)., Conclusions: Synthesized findings demonstrate that people with ID, who live in community or residential settings, may fall more frequently, and at a younger age, compared to general community populations. Studies should take a consistent approach to measuring and reporting falls outcomes. Further research is recommended to identify the impact of falls on health related outcomes for people with ID and subsequently evaluate falls interventions for their efficacy.

The largest group of recipients of pediatric gastrostomy have neurological impairment with intellectual disability (ID). This study investigated trends in first gastrostomy insertion according to markers of disadvantage and ID etiology. Linked administrative and health data collected over a 32-year study period (1983-2014) for children with ID born between 1983 and 2009 in Western Australia were examined. The annual incidence rate change over calendar year was calculated for all children and according to socioeconomic status, geographical remoteness, and Aboriginality. The most likely causes of ID were identified using available diagnosis codes in the linked data set. Of 11,729 children with ID, 325 (2.8%) received a first gastrostomy within the study period. The incidence rate was highest in the 0-2 age group and there was an increasing incidence trend with calendar time for each age group under 6 years of age. This rate change was greatest in children from the lowest socioeconomic status quintile, who lived in regional/remote areas or who were Aboriginal. The two largest identified groups of ID were genetically caused syndromes (15.1%) and neonatal encephalopathy (14.8%).Conclusion: Gastrostomy is increasingly used in multiple neurological conditions associated with ID, with no apparent accessibility barriers in terms of socioeconomic status, remoteness, or Aboriginality. What is Known: • The use of gastrostomy insertion in pediatrics is increasing and the most common recipients during childhood have neurological impairment, most of whom also have intellectual disability (ID). What is New: • Nearly 3% of children with ID had gastrostomy insertion performed, with the highest incidence in children under 3 years of age. • Gastrostomy use across different social groups was equitable in the Australian setting.

Background: Falls among older adults with intellectual disability (ID) are recognised as a serious health problem potentially resulting in reduced health-related quality of life and premature placement in residential care. However there are limited studies that have investigated this problem and thus falls rates among older adults with ID remain uncertain. Furthermore, people with ID rely heavily on familial and professional care support to address health problems, such as after having a fall. No studies have explored the post-fall care that people with ID receive., Method: This research will be carried out in two phases using a convergent mixed methods design. The aim of Phase 1 is to estimate the falls rate by prospectively observing a cohort of older adults (≥ 35 years) with ID (n = 90) for six months. Phase 1 will be conducted according to STROBE guidelines. In Phase 2, participants from Phase 1 who have experienced a fall(s) will be asked to participate in a semi-structured interview to explore their post-fall experience., Discussion: This study will determine the rate of falls among older adults with ID living in community based settings, which will assist to identify the extent of this problem. Data collected from the study will also aid in understanding the circumstance of falls and related falls risk factors in this cohort. This will include exploring any barriers that older adults with ID may encounter when seeking or undertaking recommended post-fall care advice. Findings from this research will potentially inform future development of falls prevention services for older adults with ID. This study has been approved by the University Human Research Ethics Committee., Trial Registration: The protocol for this study is registered with the Australian New Zealand Clinical Trial Registry (ACTRN12615000926538) on 7 September 2015. www.anzctr.org.au/Trial/Registration/TrialReview.aspx?id=368990&isReview=true.

Using the Short Form 12 Health Survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability; Down syndrome, Rett syndrome and the CDKL5 disorder. Data were sourced from the Western Australian Down Syndrome (n = 291), Australian Rett Syndrome (n = 187) and International CDKL5 Disorder (n = 168) Databases. Among 596 mothers (median age, years 43.7; 24.6-72.2), emotional well-being was poorer than general female populations across age groups. Multivariate linear regression identified the poorest well-being in parents of children with the CDKL5 disorder, a rare but severe and complex encephalopathy, and negative associations with increased clinical severity irrespective of diagnosis. These findings are important for those providing healthcare and social services for these populations.

Aim: Mental health conditions and problems are often reported in children and adolescents with cerebral palsy (CP). A systematic review was undertaken to describe their prevalence., Method: MEDLINE and PsycINFO databases from 1996 to 2016 were searched and reference lists of selected studies were reviewed. Studies were included if they reported point prevalence of mental health diagnoses or symptoms in a general population of children and/or adolescents with CP. Pooled prevalence for mental health symptoms was determined using a random effects meta-analysis., Results: Of the 3158 studies identified, eight met the inclusion criteria. Mental health disorders were diagnosed by psychiatric interview in one study, giving a prevalence of 57% (32 out of 56 children). The remaining seven studies (n=1715 children) used parent-report mental health screening tools. The pooled prevalence for mental health symptoms using the Strengths and Difficulties Questionnaire (n=5 studies) was 35% (95% confidence interval [CI] 20-61) and using the Child Behavior Checklist (n=2 studies) was 28% (95% CI 22-36). Evidence was characterized by a moderate level of bias., Interpretation: More studies are needed to ascertain the prevalence of mental health disorders. Mental health symptoms are common and mental health evaluations should be incorporated into multidisciplinary assessments for these children., What This Paper Adds: Children with cerebral palsy and intellectual disability have a higher risk of mental health symptoms. The prevalence of mental health symptoms for age and severity groups is unclear., (© 2017 Mac Keith Press.)

Review Question/objective: The objective of this review is to synthesize the best available evidence to determine the incidence and prevalence of falls in adults with intellectual disability living in the community.

Whilst the transition from school to adult roles can be challenging for any adolescent, for those with an intellectual disability it can present as a particularly difficult time both for the individual and their family. The process may involve coordinated planning, collaboration and decision-making among school staff, families and community agencies. This mixed-methods study utilised information from two cohorts: young people with Down syndrome in Western Australia (n = 190) and young people with intellectual disability (of any cause) in Queensland, Australia (n = 150). The parent-report questionnaires administered in both states comprised two parts: part 1 collected information about the individual with intellectual disability including information on health, functioning and service needs, and about specific transition related issues; and part 2 collected information about the health and well-being of their family. The majority (87 %) of parents said that they were involved in decision-making about transition planning but less than two-thirds (59.5 %) of young people were involved in this process. The three most helpful strategies indicated by parents that assisted with transition planning related to the provision of more information about financial assistance, the school transition program and the building of informal community-based supports. A number of themes emerged from the qualitative data which included parents' views and concerns about the capacity of their young adult to adapt and change to life in adulthood, their difficulty navigating services and programs, issues and challenges around their young person building connectedness, strain on family wellbeing and finances and worry about the longer term future.

Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry (n = 50, mean age 11.2 years) to evaluate associations between child behaviours and caregiver mental well-being. Symptoms of sleep-related breathing disorder, child depression and social difficulties were associated with poorer caregiver mental and physical well-being. Growth hormone therapy use was associated with better caregiver mental and physical well-being. Optimising management of problematic behaviours and sleep disturbances have the potential to support caregivers who are the most vital network of support for individuals affected by PWS.

Background: Adults with intellectual disability experience high rates of falls making falls prevention an important health need. The purpose of the study was to seek perspectives of older adults with intellectual disability and their caregivers to (a) explore the experiences of older adults with intellectual disability when seeking healthcare services after a fall and (b) identify enablers and barriers when taking up evidence-based falls recommendations. Method: A qualitative exploratory study was undertaken as part of a prospective observational cohort study. Semi-structured interviews were conducted with a purposeful sample. Data were analysed thematically using Colaizzi's method. Results: Seventeen interviews were conducted (n = 21). Emergent themes demonstrated that participants had limited knowledge about falls prevention. Enablers included individualizing falls prevention strategies. Barriers included not being offered access to established falls prevention pathways. Conclusion: There is an urgent need to develop high-quality falls prevention services for older adults with intellectual disability.

An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed but clinical profiles are rarely compared. Diagnostic data from children with ASD notified to the Western Australian Register for Autism Spectrum Disorders were analysed according to maternal-race ethnicity and country of birth. A total of 4776 children aged between 0 and 18 years diagnosed with ASD from 1999 to 2017 were included. Those born to immigrant mothers from lower income countries were younger at the time of diagnosis, had an increased risk of intellectual disability and poorer presentations in the social and communication domains. Further work is required to understand environmental influences that may affect children born to immigrant mothers and to improve monitoring and assessments.

Background: People with intellectual disability encounter substantial healthcare discrepancies, yet are under-represented in research. While people with intellectual disability can make valuable contributions to research and consequently improve their quality of life, researchers encounter multiple challenges including them in research. One challenge is to support them in making an informed decision to participate in research. Therefore, the aim of this study was to describe and reflect on a consent procedure used while gaining informed consent, when recruiting potential participants into an ongoing study. Methods: A systematic and holistic consent procedure, underpinned by ethical guidelines, was developed and used alongside recommended strategies to engage people with intellectual disability in a research study. Results: Only three participants (7.5%) were deemed capable of consenting independently, while 37 participants (92.5%) required the support of a proxy. Of these 37 participants, 22 participated in the consent process, while 15 depended mainly on their caregiver to make decisions for them. Adapted communication strategies were found to facilitate a person who has an intellectual disability's participation in the consent procedure. The adapted written information sheets were of secondary importance. Conclusion: The consent procedure was a respectful means of determining a person's capacity to consent and indicating where there was a need for proxy consent. Appropriate communication strategies and the inclusion of familiar caregiver(s) were critical components for facilitating the person with an intellectual disability to participate in the consent procedure.

Using the Short Form 12 Health Survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability; Down syndrome, Rett syndrome and the CDKL5 disorder. Data were sourced from the Western Australian Down Syndrome (n = 291), Australian Rett Syndrome (n = 187) and International CDKL5 Disorder (n = 168) Databases. Among 596 mothers (median age, years 43.7; 24.6-72.2), emotional well-being was poorer than general female populations across age groups. Multivariate linear regression identified the poorest well-being in parents of children with the CDKL5 disorder, a rare but severe and complex encephalopathy, and negative associations with increased clinical severity irrespective of diagnosis. These findings are important for those providing healthcare and social services for these populations.

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents. The data were coded into three categories: (1) complex care needs in the home, (2) highly skilled caregivers, and (3) impact on caregivers and families. Complex 24 h care was required and parents developed complex skillsets to ensure that this was delivered well to their child. The provision of extensive complex medical care in the home had an impact on parent mental and physical health, family dynamics, and finances. This study captures the management of high-burden comorbidities in MDS at home. Investigations into how best to support caregiver wellbeing to reduce their stresses, whilst maintaining optimal child health and wellbeing, are needed. [ABSTRACT FROM AUTHOR]

Aim: This systematic review aimed to identify the most important social, environmental, biological, and/or genetic risk factors for intellectual disability (ID). Methods: Eligible were published prospective or retrospective comparative studies investigating risk factors for ID in children 4–18 years. Exclusions were single group studies with no comparator without ID and a sample size <100. Electronic databases (Medline, Cochrane Library, EMBASE, PsycInfo, Campbell Collaboration, and CINAHL) were searched for eligible publications from 1980 to 2020. Joanna Briggs Institute critical appraisal instruments, appropriate for study type, were used to assess study quality and risk of bias. Descriptive characteristics and individual study results were presented followed by the synthesis for individual risk factors, also assessed using GRADE. Results: Fifty-eight individual eligible studies were grouped into six exposure topics: sociodemographic; antenatal and perinatal; maternal physical health; maternal mental health; environmental; genetic or biological studies. There were few eligible genetic studies. For half the topics, the certainty of evidence (GRADE) was moderate or high. Conclusion: Multiple studies have examined individual potential determinants of ID, but few have investigated holistically to identify those populations most at risk. Our review would indicate that there are vulnerable groups where risk factors we identified, such as low socioeconomic status, minority ethnicity, teenage motherhood, maternal mental illness, and alcohol abuse, may cluster, highlighting a target for preventive strategies. At-risk populations need to be identified and monitored so that interventions can be implemented when appropriate, at preconception, during pregnancy, or after birth. This could reduce the likelihood of ID and provide optimal opportunities for vulnerable infants. [ABSTRACT FROM AUTHOR]

The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products. This clinical information can be systematically collected from caregivers through data collation efforts—yet, no such database has existed for MDS before now. Here, in this methodological study, we document the development, launch and management of the international MECP2 Duplication Database (MDBase). The MDBase consists of an extensive family questionnaire that collects information on general medical history, system-specific health problems, medication and hospitalisation records, developmental milestones and function, and quality of life (for individuals with MDS, and their caregivers). Launched in 2020, in its first two years of operation the MDBase has collected clinical data from 154 individuals from 26 countries—the largest sample size to date. The success of this methodology for the establishment and operation of the MDBase may provide insight and aid in the development of databases for other rare neurodevelopmental disorders. [ABSTRACT FROM AUTHOR]

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase). We report a higher frequency of pneumonia, bronchitis, bronchiolitis, gastroesophageal reflux and slow gut motility in males compared to females. We further examine the prevalence of other medical comorbidities such as epilepsy, gastrointestinal problems, feeding difficulties, scoliosis, bone fractures, sleep apnoea, autonomic disturbance and decreased pain sensitivity. A novel feature of urinary retention is reported and requires further investigation. Further research is required to understand the developmental trajectory of this disorder and to examine the context of these medical comorbidities in a quality of life framework. [ABSTRACT FROM AUTHOR]

To investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome. 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). Components of participation (attendance, involvement) were measured using the Participation and Environment Measure for Children and Youth, community module. Caregiver factors were time, mood, transport, and disability funding. Child factors were sleep, behaviour, communication, and health. Multivariate linear regression analyses examined if (i) caregiver factors were associated with attendance and (ii) child factors were associated with involvement. Increased caregiver time availability was associated with higher frequency of attendance. Higher frequency of attendance was associated with greater child involvement, and having a sleep breathing disorder and less verbal communication ability was associated with less child involvement. These factors combined explained 21% of the variance. Children with Down syndrome who participated in the community more frequently enjoyed greater involvement. Supporting participation of children with poorer verbal communication and/or sleep breathing disorders could further the participation of children with Down syndrome. Children with Down syndrome who more frequently attended opportunities for participation were more likely to be involved in those experiences. Healthcare providers and educators could foster involvement in participation opportunities of children with poorer verbal ability by supporting the development of prerequisite communication strategies. Rehabilitation programs and policies pertaining to accessibility of community activities need to align with modifiable determinants of participation in children, including availability of caregivers' time. [ABSTRACT FROM AUTHOR]

Little longitudinal research has examined parental well-being in those with a child with specific genetic developmental disorder although the associated severe neurological impairments and multiple physical comorbidities likely place substantial burden of caregiving on the parent. We aimed to examine longitudinally the well-being of parents of individuals included in the Australian Rett Syndrome Database over the period from 2002 to 2011 using the Short Form 12 Health Survey. Residential remoteness, the child being a teenager at baseline, having frequent sleep disturbances or behavioural problems, and the type of MECP2 gene mutation were each associated with later poorer parental physical well-being scores. Being a single parent or on a low income was also associated with later poorer physical well-being, while the child having enteral feeding was associated with later poorer emotional well-being. Both the physical and emotional well-being of the parent improved if the child was living in out-of-home care. Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being. Being alert to the possibility and need for management of a child's sleep or emotional disturbance is important as is awareness of the additional likely parental burden as the child moves through adolescence into early adulthood and their need for additional support at that time. However, the findings also highlight the complex nature of parental well-being over time in parents of children with a severe neurological disorder and how they may be affected by a range of inter-related family and child factors. [ABSTRACT FROM AUTHOR]

The CDKL5 deficiency disorder (CDD) is a rare condition caused by spontaneous mutations on the cyclin‐dependent kinase‐like 5 (CDKL5) gene. It is a severe and complex disability that markedly affects the individual's health and wellbeing. This study aimed to identify the quality of life (QOL) domains important for individuals with CDD. Twenty‐five parents of individuals registered in the International CDKL5 Disorder Database participated in semi‐structured telephone interviews to explore areas that supported or challenged their child's QOL. Rett syndrome (RTT) is another severe genetically‐caused neurodevelopmental disorder but is generally less severe than CDD. Qualitative data were analysed using directed content analysis, based on previously identified QOL domains for RTT that related to health and wellbeing, daily activities and community immersion and services. Each of the domains identified for RTT was represented in the CDD dataset overall and when the dataset was divided into three age groups: 3–5 years old; 6–18 years old; and older than 18 years. This is the first study to conceptualise factors important for individuals with CDD. Findings from this study will guide health professionals and other service providers who support individuals with CDD and will offer insight into choosing appropriate QOL instruments when measuring outcomes for this group. [ABSTRACT FROM AUTHOR]

Domains of quality of life in children with autism spectrum disorder have not previously been explored and there has been no quality of life measure developed for this population. Our study investigated parent observations to identify the domains important to children with autism spectrum disorder who also had an intellectual disability. In all, 21 parents (19 mothers, 2 fathers) of children with autism spectrum disorder (aged 6–17 years) participated in a qualitative study to discuss their child's quality of life. Thematic analysis using a grounded theory framework was conducted and 10 domains emerged in relation to health and well-being, capacity to perform and develop skills in daily life, and connections with the community and environment. Unique aspects of quality of life included varying levels of social desire, consistency of routines, and time spent in nature and the outdoors, which are not comprehensively captured in existing measures. Parent observations provide an initial framework for understanding quality of life in autism spectrum disorder and support the development of a new measure for this population. [ABSTRACT FROM AUTHOR]

Accessible Summary: People with intellectual disability do not often take part in research. When people with intellectual disability are thinking about taking part in research, it is important that they are given support to participate in the decision‐making. This study describes how an informed consent process was developed for people with intellectual disability and how it is working in a current study. Abstract: Background: People with intellectual disability encounter substantial healthcare discrepancies, yet are under‐represented in research. While people with intellectual disability can make valuable contributions to research and consequently improve their quality of life, researchers encounter multiple challenges including them in research. One challenge is to support them in making an informed decision to participate in research. Therefore, the aim of this study was to describe and reflect on a consent procedure used while gaining informed consent, when recruiting potential participants into an ongoing study. Methods: A systematic and holistic consent procedure, underpinned by ethical guidelines, was developed and used alongside recommended strategies to engage people with intellectual disability in a research study. Results: Only three participants (7.5%) were deemed capable of consenting independently, while 37 participants (92.5%) required the support of a proxy. Of these 37 participants, 22 participated in the consent process, while 15 depended mainly on their caregiver to make decisions for them. Adapted communication strategies were found to facilitate a person who has an intellectual disability's participation in the consent procedure. The adapted written information sheets were of secondary importance. Conclusion: The consent procedure was a respectful means of determining a person's capacity to consent and indicating where there was a need for proxy consent. Appropriate communication strategies and the inclusion of familiar caregiver(s) were critical components for facilitating the person with an intellectual disability to participate in the consent procedure. [ABSTRACT FROM AUTHOR]

Objective: This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication. Methods: Sixteen interviews were conducted with parents with a daughter with Rett syndrome with a pathogenic mutation in the methyl-CpG-binding protein 2 gene. Interviews were recorded and transcribed verbatim. Transcripts were analysed using directed content analysis. Results: All parents reported their daughters were able to express discomfort and pleasure, and make requests and choices using a variety of modalities including vocalisations, body movements and eye gaze. Parents also reported their daughters understood most of what they said and that the level of functional abilities, such as mobility, and environmental factors, such as characteristics of the communication partner, influenced successful communication. Conclusions: The perspectives of parents are integral to the assessment of communication abilities and have the potential to inform communication interventions for girls and women with Rett syndrome. [ABSTRACT FROM AUTHOR]