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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). 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. 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). 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. • The EQ-5D is a health-related quality-of-life scale, with established psychometric properties across diverse adult and child populations. It can generate utility values, translatable into quality-adjusted life years, which are used to value health in economic analyses. • A caregiver-completed proxy version of the EQ-5D-Y-5L, when applied to children with intellectual disability (ID), has good distributional properties with extremely few (<1%) missing values and without ceiling effects. Compared with other populations, children with ID score poorly on self-care, usual activities, and worry/sadness/unhappiness. Convergent validity is good for most dimensions and for the EQ-VAS. Test-retest reliability is fair to substantial for 4 dimensions but poor for pain/discomfort and EQ-VAS, indicating variable health states in some children. • Although ID is not a disease state, these children's EQ-5D-Y-5L scores indicate severe problems affecting health-related quality-of-life compared with most other populations, particularly in regard to the self-care, usual activities, and worry/sadness/unhappiness dimensions. The data may inform policy makers and decision makers to allow comparison of costs and benefits across healthcare and the disability sectors. The EQ-VAS is not stable and could not be used to monitor changes with intervention over time. [ABSTRACT FROM AUTHOR]

CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy. It is characterised by early-onset (generally within the first 2 months of life) seizures that are usually refractory to polypharmacy. Development is severely impaired in patients with CDD, with only a quarter of girls and a smaller proportion of boys achieving independent walking; however, there is clinical variability, which is probably genetically determined. Gastrointestinal, sleep, and musculoskeletal problems are common in CDD, as in other developmental epileptic encephalopathies, but the prevalence of cerebral visual impairment appears higher in CDD. Clinicians diagnosing infants with CDD need to be familiar with the complexities of this disorder to provide appropriate counselling to the patients' families. Despite some benefit from ketogenic diets and vagal nerve stimulation, there has been little evidence that conventional antiseizure medications or their combinations are helpful in CDD, but further treatment trials are finally underway. [ABSTRACT FROM AUTHOR]

Highlights • Non-ambulant youth with NMD rated their mental wellbeing higher than youth in the general population. • More frequent health complaints were associated with lower mental wellbeing. • Mental wellbeing was not independently associated with physical health variables. • Mental wellbeing was independently associated with academic achievement and family support. • Enabling youths' educational attainment and attending to social support may optimise youth's wellbeing. Abstract The physical and social challenges associated with neuromuscular disorders may impact mental wellbeing in non-ambulant youth during the more vulnerable period of adolescence. This cross-sectional survey investigated non-ambulant youths' mental wellbeing and relationships with physical health, participation and social factors. The conceptual model was the International Classification of Functioning, Disability and Health (ICF). Thirty-seven youth aged 13–22 years old (mean age 17.4 years; n = 30 male; n = 24 Duchenne Muscular Dystrophy) and their parents provided biopsychosocial data through a comprehensive self-report questionnaire. The primary outcome measure was the Warwick Edinburgh Mental Wellbeing Scale (WEMWBS). Relationships between mental wellbeing and variables within and across each ICF domain were explored using linear regression models. Mean WEMWBS scores (55.3/70 [SD 8.1]) were higher than for typically developing youth and comparable to youth with other chronic conditions. Over half of youth reported severe co-morbidities across all body systems. Multivariable modelling indicated that mental wellbeing was independently associated with academic achievement and perceived family support but not with physical health variables. Beyond management of physical co-morbidities, enabling youths' educational attainment and attending to social support likely optimises youth's wellbeing. [ABSTRACT FROM AUTHOR]

Objective: What effect does regular exercise have on oxidative stress in people with Down syndrome?Design: Systematic review with meta-analyses.Methods: A systematic review with meta-analyses was conducted. Six databases were searched from inception until August 2017. Studies where included if participants with Down syndrome (any age) had completed an exercise program of at least 6 weeks duration and at least one biomarker measured the generation or removal of reactive oxidative species. Data were extracted using a customised form. Risk of bias was assessed using the Cochrane Collaboration's Risk of Bias assessment tool. Effect sizes were calculated and meta-analyses completed for clinically homogeneous data using a random effects model.Results: Seven studies (11 articles) involving 144 inactive participants investigated the effect of moderate intensity aerobic exercise. No pattern emerged for how most biomarkers responded with non-significant pooled effect sizes and high levels of heterogeneity observed. The exception was catalase which increased significantly after exercise (standardised mean difference 0.39, 95%CI 0.04-0.75; I2 15%). Available studies were at high risk of bias. Two of five studies that measured more than one biomarker reported a decrease in oxidative stress with increased antioxidant activity after exercise but the other three (including one small randomised controlled trial) reported increased oxidative stress with variable change in antioxidant activity.Conclusions: There remains uncertainty about the effect of exercise on oxidative stress in people with Down syndrome.Review Registration: PROSPERO CRD42016048492. [ABSTRACT FROM AUTHOR]

Abstract: This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and examined relationships between use of these resources and the health of female caregivers. Data was sourced from questionnaires completed by families (n =170) contributing to the Australian Rett Syndrome Database in 2004 and 2006. Regression analysis was used to assess relationships between child factors (age, mobility, clinical severity and behaviour), family factors (accessibility and socio-economic factors) and the use of equipment and respite services in 2004, and relationships between resource use in 2004 and health of female caregivers as measured by the SF-12 in 2006. In 2004, the majority (88.3%) of families used at least one piece of equipment with more equipment use associated with greater mobility restrictions. Home respite services were used by 54.9% of families and overnight respite services by 47.6% of families. Use of more home respite services was associated with severely restricted levels of mobility and mothers having a vocational or university qualification. Use of more overnight respite services was associated with increasing age of the girl/woman with Rett syndrome and mothers being employed while use of less overnight respite services was associated with increasingly difficult behaviours in the girl/woman. In 2006, female caregivers had a mean mental health score of 41.1 (95% CI 38.9–43.3) and no relationships with previous resource use were identified. The mean physical health score of female caregivers was 48.7 (95% CI 46.8–50.5) and lower scores were associated with the use of equipment and overnight respite services. Equipment was a widely used resource whereas respite services, particularly overnight services, were used less widely. Further investigation of the reasons for this and alternative support strategies is indicated. [ABSTRACT FROM AUTHOR]

Objective: To investigate the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability.Study Design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database. A total of 120 individuals provided 290 recordings from which 170 observation pairs were available for comparison. The Rett Syndrome Hand Function Scale was used to classify a level of hand function observed in each video on a range from unable to grasp, pick up, and hold objects to skillful manipulation of large and small objects.Results: Approximately one-third of the population lost some hand function over time. Younger children (<6 years) rather than adults were at greater risk of deterioration in hand function. Clinical severity, as indicated by walking ability or genotype, played a lesser role. There was no identified pattern between genotype and the stability of hand function skills. Rather, mutations associated with milder (p.Arg133Cys, p.Arg294∗) and greater (p.Arg106Trp, p.Thr158Met) clinical severity were both associated with greater risks of decline.Conclusions: Genotype was a lesser predictor of loss of hand function beyond the early regression period, and younger children were particularly vulnerable to further loss of hand function compared with adults. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the prevalence and risks of developmental disability (autism spectrum disorder, intellectual disability, and cerebral palsy) in Western Australian children of different groups of foreign-born women.Study Design: Western Australian population-based linked data of 764 749 singleton live births from 1980 to 2010 were used to compare disability outcomes among children of foreign-born, Australian-born non-Indigenous, and Indigenous women. The risk of disability was assessed using multinomial logistic regression.Results: Overall, the prevalence of any disability was lowest for the children of foreign-born mothers. From 1980 to 1996 but not from 1997 to 2010, children born to mothers from foreign-born low-income countries had an increased relative risk of autism spectrum disorder with intellectual disability, and children born to foreign-born mothers from upper-middle-income countries had an increased risk of cerebral palsy with intellectual disability. After adjusting for smoking, the relative risks of intellectual disability and cerebral palsy with intellectual disability were markedly decreased in children of Australian-born Indigenous mothers.Conclusions: Although we did not find among children born to foreign-born women an increased prevalence across all the measured developmental outcomes, we did observe an increased risk of autism spectrum disorder with intellectual disability and cerebral palsy with intellectual disability for mothers of some foreign-born groups. Our findings related to smoking in the Indigenous population underscore its possible role on the causal pathway to intellectual disability. Maternal migration is considered a factor on the causal pathway to intellectual disability. Maternal migration may be either a risk or a protective factor on the causal pathway to developmental disabilities and the direct role of migration is inconclusive in our study. [ABSTRACT FROM AUTHOR]

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. 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. 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. 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. • The EQ-5D is a widely used scale for measuring health-related quality of life, with established reliability and validity in a diversity of adult and pediatric populations. It is used to assign economic value to changes in health status. • Use of the EQ-5D-Y-5L presents challenges for carers of children with intellectual disability (ID), particularly in regard to the influence of unchanging impairments, variable expectations for children with ID compared with typically developing children, the omission of questions about supports required by children, and difficulties for parents reporting on behalf of their children, particularly about pain. • Healthcare decision making, if based on a current version of the EQ-5D-Y-5L, is likely to overestimate health-related quality of life in children with ID, because most caregivers assume the availability of support (person or equipment or both) when answering the questions and because expectations for children with ID are different from expectations of neurotypical children and answers are adjusted to take into account these limitations. Comparison of EQ-5D-Y-5L results between children with ID and neurotypical children may be invalid. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate how age-related trends in nutritional status, physical health, and parental well-being in females with Rett syndrome may be related to gastrostomy placement and to examine the impact of the procedure on mortality.Study Design: We included 323 females from the Australian Rett Syndrome Study and analyzed their demographic, genetic, and child and parental health data collected from over 6 waves of follow-up questionnaire between 2000 and 2011. We used mixed-effects models to estimate the association between repeated measures of outcomes and age, gastrostomy placement and their interaction and Cox proportional hazards regression models to estimate relative risks of mortality for individuals with gastrostomy.Results: Nearly one-third (30.3%) of the cases underwent gastrostomy placement. Nutritional status based on weight, height, and body mass index (BMI) improved over time, and BMI was greater in individuals with gastrostomy placement than in those without (adjusted β = 0.87, 95% CI 0.02-1.73). There was no association between gastrostomy placement and individual's physical health outcomes or parental physical and mental health, nor did the age trend of these outcomes vary by gastrostomy insertion status. Nevertheless, among those at risk of suboptimal weight, the all-cause mortality rate was greater in those who had gastrostomy placement compared with those who had not (hazard ratio 4.07, 95% CI 1.96-8.45).Conclusion: Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear. [ABSTRACT FROM AUTHOR]

Alcohol exposure during pregnancy has been associated with altered brain development and facial dysmorphology. While Autism Spectrum Disorder (ASD) is not specifically related to distinct facial phenotypes, recent studies have suggested certain facial characteristics such as increased facial masculinity and asymmetry may be associated with ASD and its clinical presentations. In the present study, we conducted a preliminary investigation to examine facial morphology in autistic children with (n = 37; mean age = 8.21 years, SD = 2.72) and without (n = 100; mean age = 8.37 years, SD = 2.47) prenatal alcohol exposure. Using three-dimensional facial scans and principal component analysis, we identified a facial shape associated with prenatal alcohol exposure in autistic children. However, variations in the alcohol-related facial shape were generally not associated with behavioral and cognitive outcomes. These findings suggest that while early exposure to alcohol may influence the development of facial structures, it does not appear to be associated with ASD phenotypic variability. Importantly, although these findings do not implicate a role for prenatal alcohol exposure in the etiology of ASD, further research is warranted to investigate the link between prenatal alcohol exposure and facial morphology differences among neurodevelopmental conditions. [ABSTRACT FROM AUTHOR]

Objective To investigate quality of life (QOL) and psychosocial well-being in youth with neuromuscular disorders (NMDs) who are wheelchair users. Data Sources MEDLINE, Embase, CINAHL, and PsycINFO (January 2004–April 2016) and reference lists of retrieved full-text articles. Study Selection Peer-reviewed studies were included when data describing self-reported QOL and psychosocial well-being could be separately understood for those using wheelchairs and 12 to 22 years of age. There were 2058 records independently screened, and potentially eligible articles were obtained and examined by all reviewers. Twelve observational and 3 qualitative studies met the inclusion criteria. Data Extraction Population representativeness, measurement tools, and outcomes, where possible, with comparison groups. Two reviewers independently appraised studies for risk of bias to internal validity and generalizability. Data Synthesis Heterogeneity of measurement and reporting precluded meta-analysis. Data were cross-sectional only. Compared with same-age typically developing peers, physical QOL was scored consistently and significantly lower in youth with NMDs, whereas psychosocial QOL was not. Psychosocial QOL was highest in youth nonambulant since early childhood and in those recruited via single tertiary specialist clinics. Mental health and social participation could not be compared with same-age populations. Conclusions Despite low physical QOL, psychosocial QOL in youth with NMDs appeared comparable with same-age peers. The psychosocial well-being of younger adolescents on degenerative disease trajectories appeared most compromised; however, the longitudinal effects of growing up with a NMD on mental health and social participation are unknown. Interpretation was hampered by poor description of participant age, sex and physical ability; lack of population-based recruitment strategies; and inconsistent use of age-appropriate measures. Understanding of self-reported QOL and psychosocial well-being in youth with NMDs transitioning to adulthood is limited. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: Pathologic mutations in cyclin-dependent kinase-like 5 cause CDKL5 deficiency disorder, a genetic syndrome associated with severe epilepsy and cognitive, motor, visual, and autonomic disturbances. This disorder is a relatively common genetic cause of early-life epilepsy. A specific severity assessment is lacking, required to monitor the clinical course and needed to define the natural history and for clinical trial readiness.Methods: A severity assessment was developed based on clinical and research experience from the International Foundation for CDKL5 Research Centers of Excellence consortium and the National Institutes of Health Rett and Rett-Related Disorders Natural History Study consortium. An initial draft severity assessment was presented and reviewed at the annual CDKL5 Forum meeting (Boston, 2017). Subsequently it was iterated through four cycles of a modified Delphi process by a group of clinicians, researchers, industry, patient advisory groups, and parents familiar with this disorder until consensus was achieved. The revised version of the severity assessment was presented for review, comment, and piloting to families at the International Foundation for CDKL5 Research-sponsored family meeting (Colorado, 2018). Final revisions were based on this additional input.Results: The final severity assessment comprised 51 items that comprehensively describe domains of epilepsy; motor; cognition, behavior, vision, and speech; and autonomic functions. Parental ratings of therapy effectiveness and child and family functioning are also included.Conclusions: A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials. The consensus methods employed for the development of severity assessment may be applicable to similar rare disorders. [ABSTRACT FROM AUTHOR]

Highlights • The standing wheelchair provided the adolescent with choice of when and where to stand. • The standing wheelchair allowed frequent position change without physical transfer. • Autonomous participation in physical, social and educational activities was considered important. Abstract Duchenne muscular dystrophy is a common neuromuscular disorder involving progressive muscle weakness. A powered wheelchair standing device provides capacity to stand despite increasing muscle weakness. This study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives. Semi-structured interviews were conducted with 12 adolescents, 11 parents and 11 teachers. Qualitative thematic analysis using a grounded theory framework was conducted to identify emerging domains. "Capacity to be able" was the central theme that emerged across the dataset: the introduction of the powered wheelchair standing device at a time when motor skills were declining enabled the adolescent to maintain and sometimes extend his independence. There were four underlying themes including (1) Independence, (2) Health, (3) Comfort, and (4) Community belonging and involvement. Each theme was illustrated in data collected from adolescents, parents and teachers. The device appeared to mitigate some of the challenges of progressive muscle weakness by providing the option for the individual with Duchenne muscular dystrophy to choose when and where to stand for participation in a range of activities, beyond what would be possible with existing therapeutic regimes involving standing frames. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: Behavioural support for young people with Prader-Willi syndrome (PWS) is necessary in home and school environments. The Trauma Informed Practice (TIP) framework has been used to support young people with complex behavioural needs in school settings.Aims: To identify parent and professional perspectives on behavioural challenges experienced by young people with PWS and strategies for supports, to inform understanding of how they are aligned with the TIP framework.Method: Semi-structured interviews were conducted with eight families with a 12-21 year old child with PWS, four clinicians and two teachers to investigate the contexts and mechanisms associated with challenging, calm and productive behaviours. Data were analysed using directed content analysis, using TIP principles as a framework.Results: Strategies to support young people with PWS aligned with the four overarching TIP Principles:Empowerment, voice and choice; Creating safe environments; Creating a collaborative environment; and Trustworthiness and transparency. Additional Novel domains included: Behavioural underpinnings, Modifying environments and Supporting family capacity.Conclusion: These novel domains can be used to supplement the TIP framework for guidance on how to support young people with PWS.Health Implications: Development and implementation of strategies to reduce behavioural difficulties in young people with PWS through positive support mechanisms could improve function and social engagement within their families and communities. [ABSTRACT FROM AUTHOR]

Background: Preterm birth is a known risk factor for infant development but it is less clear whether fetal growth restriction (FGR) and early term birth between 37 and 39 weeks gestation are associated with risks for infant development.Aims: This study investigated risk factors for adverse developmental outcomes at 12 months of age in a population-based birth cohort.Study Design: Cohort study.Subjects: Participants in the Raine Study, which recruited 2900 women at 18 weeks of gestation (Gen1) and followed up infants longitudinally (Gen2). At 12 months, 1773 mothers provided developmental data for their infants.Outcome Measure: The Ages and Stages Questionnaire (ASQ) was used to measure gross and fine motor, communication, adaptability and personal social development. Multivariate logistic regression analyses were used to estimate associations between FGR, gestational age, sex, breast feeding, parental age, socioeconomic factors and developmental delay at 12 months of age as measured with the ASQ.Results: The risk of any delay at 12 months of age, as well as gross motor, fine motor and adaptive delay, was slightly increased for infants born FGR. Preterm and early term birth and male sex were associated with poorer development at 12 months. Breast feeding was protective of developmental status.Conclusions: Developmental assessment using the ASQ of infants with FGR was mostly comparable to those born without FGR at 12 months, although finer-grained neurobehavioural assessments may yield capacity for earlier identification of developmental risk. Our data provide weight to the argument that surveillance of early term infants could enable earlier intervention for children at risk. [ABSTRACT FROM AUTHOR]