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Background Down syndrome is one of the commonest causes of intellectual disability. As life expectancy improves with early and more intensive surgical and medical treatments, people with the disorder are more likely to exhibit classic morbidity and mortality patterns and be diagnosed with diseases such as cancer. Methods A profile of cancer cases among people with Down syndrome has been compiled, based on the analysis of a linked data set that included information from the Disability Services Commission of Western Australian and the State Cancer Registry. Results and conclusions Although the total age- and sex-standardized incidence ratios (SIRs) for people with Down syndrome were similar to that for the general population, SIRs for leukaemia were significantly higher while the incidence of certain other types of cancers was reduced. Overall, there was a lower incidence of solid tumours in Down syndrome, possibly reflecting the age profile of the study cohort. [ABSTRACT FROM AUTHOR]

Purpose. To investigate the incidence, clinical presentation and associated comorbidities of Angelman syndrome (AS) in Western Australia, with establishment of an information database for the disorder.Methods. Data were collected from Disability Services Commission files, supplemented by datasets provided by the Western Australian Data Linkage Unit. The analysis was retrospective and quantitative.Results. Thirty-four individuals (two deceased) were identified (19 F, 15 M), with a mean age of 21.6 years; 52.9% had an IQ < 40, with the remainder of IQ 40-69. The incidence was one in 40,000 births and mean age at diagnosis was 5.8 years. The mean age of the 23 home residents was 20.2 years compared to 27.9 years in the nine individuals in sheltered accommodation. In general, the patients exhibited a typical AS clinical presentation. A median of 5.5 (range 0-20) hospital admissions was recorded per person, with epilepsy, gastrointestinal disorders, and dental work all common reasons for admission.Conclusions. The estimated incidence was low compared to other reports, as was the proportion of IQ < 40. AS cases required substantial levels of medical care, especially those who were epileptic. An increase in the future numbers of AS patients needing sheltered accommodation is predicted. [ABSTRACT FROM AUTHOR]

Background An investigation of the clinical morbidity and genetic profiles of individuals with Prader-Willi syndrome (PWS) in Western Australia (WA) was undertaken as part of a wider study into the effects of intellectual disability (ID) on the life course of individuals. Methods All persons with a diagnosis of PWS were identified from the records of the Disability Services Commission of WA (DSC). The DSC client files formed the main data source, and were supplemented by information from other state health data sets. The analysis was retrospective and quantitative in nature. Results A total of 56 individuals were identified, 10 of whom exhibited normal methylation patterns and so were analysed separately (PWS-like). The ages of the PWS group ranged from 0.9 to 48.3 years, with six persons deceased. Most people with PWS (76%) had mild or moderate ID, and 70% lived in their family home. The birth prevalence of the disorder was 1 in 29 500 births. Respiratory disorders, dentistry and gastrointestinal disorders were common reasons for hospital admission, with epilepsy or convulsions also reported at moderate frequency. The PWS-like group shared many clinical features in common with PWS patients, the principal exceptions being hypotonia and feeding difficulties in infancy. Conclusions The estimated birth prevalence of PWS was lower than expected; however, the case ascertainment method may have excluded some individuals. Older people with PWS were generally living in sheltered accommodation. As the cohort ages, demand for places in similar accommodation will increase, adding to the existing burden on service providers. Substantial future increases in the use of medical services and hospital-based care also are predicted with the onset of age-associated disorders. [ABSTRACT FROM AUTHOR]

Background: It is estimated that approximately 50% of women in Australia with intellectual disability will live to 70 years of age and as a result many will fall within the age group at highest risk for breast cancer (50-69 years).Methods: Subjects were identified through the Western Australia Disability Services database. To determine the number of women diagnosed with breast cancer during the period 1982-2000, individual records (n = 2,370) were linked to the Western Australia Cancer Registry and the Mammography Screening Registry.Results: The incidence of breast cancer among women with intellectual disability was 64.0 per 100,000 person-years, by comparison with 146.7 per 100,000 person-years in the general population. The uptake of breast cancer screening was examined in a subgroup of 380 women, 34.7% of whom had used mammographic screening, as opposed to 54.6% screening uptake in the general population. Failure to use screening services was highest in women who were unmarried, and was positively associated with severity of intellectual disability, presence of physical disabilities, and urban residence.Conclusions: The lower incidence of breast cancer in women with intellectual disability may in part be attributable to decreased life expectancy, but it also appears to reflect significant under utilization of the readily available screening services. [ABSTRACT FROM AUTHOR]

Cohort studies have indicated that the survival of individuals with Down's syndrome has dramatically increased over the past 50 years. Early childhood survival in particular has shown major improvement, due largely to advances in cardiac surgery and in general health management. The present study was based on a continuous cohort of 1332 people with Down's syndrome in Western Australia, registered for intellectual disability services between 1953 and 2000. Their life expectancy was 58.6 years, 25% lived to 62.9 years, and the oldest living person is 73 years of age. Life expectancy for males was greater than females by 3.3 years. The substantial increase in survival across the study period means that the life expectancy of people with Down's syndrome is approaching that of the general population, but accompanied by a range of significant mid-life health problems. The findings are of relevance to all developed countries and have considerable implications in terms of the counselling information provided to families at risk of having a child with Down's syndrome. [ABSTRACT FROM AUTHOR]

Background: To date, relatively few representative data have been available to health planners and advocacy groups on the life expectancy of people with intellectual disability. A study of trends in the survival profiles of people with intellectual disability was undertaken to assist in the planning of appropriate medical and support services.Methods: Since 1953, the Disability Services Commission of Western Australia has maintained a database of persons diagnosed with intellectual disability. The database was used to calculate survival probabilities on a total of 8724 individuals, 7562 of whom were still alive at the time of sampling in December 2000.Results: Kaplan-Meier survival plots showed a strong negative association between severity of intellectual disability and survival, with median life expectancies of 74.0, 67.6, and 58.6 years for people with mild, moderate, and severe levels of handicap. Significant negative associations also were observed with male gender, Indigenous Australian parentage, and individuals diagnosed with a specific genetic disorder.Conclusions: The findings indicate a major and expanding increase in the service requirements of this aging, intellectually disabled population during the past two generations. [ABSTRACT FROM AUTHOR]

Siblings of individuals with neurodevelopmental conditions (NDCs) are situated within a complex system of risk and resilience factors for poor outcomes, many of which overlap with the risk of traumatic brain injury (TBI) and correlate with poorer recovery trajectories. This study used Bayesian analyses to characterize and compare TBI and biopsychosocial risk factors among 632 siblings (207 NDC, 425 controls; mean age 20.54 years, range 10-30, 78.48% female). NDC siblings had a higher self-reported lifetime history of TBI compared to controls (14.98% versus 6.35%), with most reporting more than one TBI, and at an earlier age. TBI history was associated with psychiatric diagnoses and subclinical NDC features. Family and structural factors related to TBI included poorer parent-child relationship, NDC diagnoses of autism or fetal alcohol spectrum disorder, minority ethnicity, and lower income. Findings have implications for health literacy, TBI education and screening, and implementation of family support.

Siblings of individuals with neurodevelopmental conditions (NDCs) experience distinct challenges and have unique strengths compared to siblings of individuals without NDCs. The present study examined attributes and aspirations of siblings of individuals with and without neurodevelopmental conditions, and analyzed the association between qualitative responses and quantitative measures of growth mindset, positive and negative valence, and mental health diagnoses. A novel mixed methods thematic analysis was employed to explore the experiences of 166 siblings (75 NDC and 91 controls, aged 14-26, 66.27% female) completing an online survey as part of a larger study on sibling mental health. The overarching theme described The Process of Self-Actualization and Integration, reflecting the journey siblings undergo in seeking to understand themselves and others amidst psychological challenges. It encompassed three subthemes: Personal Growth and Identity Formation; Connection and Belonginess; and Societal Perspective and Global Consciousness. Qualitative responses were analyzed within a Research Domain Criteria (RDoC) framework, and associations between phenomenology and mental health diagnoses examined. NDC siblings had higher negative valence and lower positive valence embedded in their responses, and quantitatively lower self-reported growth mindset (i.e., beliefs about the capacity for personal growth), compared to control siblings, which correlated with self-reported mental health diagnoses. Findings suggest clinical practice may focus on optimizing self-identified strengths and offer opportunities for self-actualization of hopes and ambitions, while providing support for families to attenuate bioecological factors impacting mental health., (© 2024 The Author(s). Journal of Research on Adolescence published by Wiley Periodicals LLC on behalf of Society for Research on Adolescence.)

Background: Selective serotonin reuptake inhibitors (SSRIs) are commonly prescribed to manage anxiety in adults with an autism diagnosis. However, their effectiveness and adverse effect profile in the autistic population are not well known. This trial aims to determine the effectiveness and cost-effectiveness of the SSRI sertraline in reducing symptoms of anxiety and improving quality of life in adults with a diagnosis of autism compared with placebo and to quantify any adverse effects., Methods: STRATA is a two-parallel group, multi-centre, pragmatic, double-blind, randomised placebo-controlled trial with allocation at the level of the individual. It will be delivered through recruiting sites with autism services in 4 regional centres in the United Kingdom (UK) and 1 in Australia. Adults with an autism diagnosis and a Generalised Anxiety Disorder Assessment (GAD-7) score ≥ 10 at screening will be randomised 1:1 to either 25 mg sertraline or placebo, with subsequent flexible dose titration up to 200 mg. The primary outcome is GAD-7 scores at 16 weeks post-randomisation. Secondary outcomes include adverse effects, proportionate change in GAD-7 scores including 50% reduction, social anxiety, obsessive-compulsive symptoms, panic attacks, repetitive behaviours, meltdowns, depressive symptoms, composite depression and anxiety, functioning and disability and quality of life. Carer burden will be assessed in a linked carer sub-study. Outcome data will be collected using online/paper methods via video call, face-to-face or telephone according to participant preference at 16, 24 and 52 weeks post-randomisation, with brief safety checks and data collection at 1-2, 4, 8, 12 and 36 weeks. An economic evaluation to study the cost-effectiveness of sertraline vs placebo and a QuinteT Recruitment Intervention (QRI) to optimise recruitment and informed consent are embedded within the trial. Qualitative interviews at various times during the study will explore experiences of participating and taking the trial medication., Discussion: Results from this study should help autistic adults and their clinicians make evidence-based decisions on the use of sertraline for managing anxiety in this population., Trial Registration: ISRCTN, ISRCTN15984604 . Registered on 08 February 2021. EudraCT 2019-004312-66. ANZCTR ACTRN12621000801819. Registered on 07 April 2021., (© 2024. The Author(s).)

Objective: Siblings of individuals with neurodevelopmental conditions (NDCs) have greater incidence of neuropsychiatric diagnoses and neurocognitive difficulties compared to siblings of persons without NDCs. Despite suicidality being labelled a global health crisis (WHO, 2014) and NDC siblings experiencing risk factors implicated in suicidality, no previous studies examined suicidality amongst adolescent and young adult siblings of persons with NDCs. Our study aimed to bridge this gap., Method: The present study used Bayesian analyses and risk classification models to examine individual and environmental risk factors associated with suicidal thoughts and behaviours amongst siblings of persons with and without NDCs (n = 267; 132 NDC, 135 control group, mean age 20.61, range 14-27, 76.40% female, 76.78% White Caucasian), as measured using self-report survey data and remote self-administered cognitive tests., Results: NDC siblings had higher rates of current nonsuicidal self-injury (NSSI; 18.94% versus 14.07%, δ = -0.32), suicidal ideation (25.76% versus 8.89%, δ = -0.40) and history of suicide attempts (18.18% versus 4.44%, δ = -0.43) compared to controls. Classification models using boosting and random forest demonstrated adequate performance: positive predictive value 0.86-0.91, negative predictive value 0.81-0.90, false negative rates 0.11-0.24. Cognitive inflexibility, alexithymia, inattention, bullying, depression, NSSI, and eating or psychotic disorder history had the highest relative importance in predicting lifetime suicidality. Poorer executive functioning (measured by the Wisconsin Card Sorting Task, Sustained Attention to Response Task, Stop Signal Task, and N-Back 2-back task) was strongly correlated with suicidality., Conclusions: Screening for proximal and modifiable risk factors is critical to inform suicidal behaviour intervention and prevention programs for at-risk siblings., Competing Interests: Declaration of Competing Interest The authors do not have any conflict of interests to declare., (Copyright © 2023 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Objective: This study compared and explored the neurocognitive profiles of siblings of persons with and without neurodevelopmental conditions (NDCs) and associations between objective test performance and self-reported psychosocial functioning., Methods: Siblings of persons with and without NDCs (64 NDC and 64 control siblings; mean age 19.88 years, range 11-27 years, 73.44% female, 75.78% White Caucasian) completed self-report questionnaires and self-administered computerized neurocognitive tests of executive functioning (EF). Using Bayesian analyses, we examined cross-sectional associations between self-reported psychosocial functioning and cognitive test performance, and predictors of EF over 15 months., Results: NDC siblings had poorer working memory, inhibition, attention, and shifting compared to controls, as measured by experimental paradigms on the backward Corsi span, N-Back 2-back task, Stop Signal Task, Sustained Attention to Response Task, and the Wisconsin Card Sorting Test (effect size δ ranging 0.49 to 0.64). Bayesian cross-sectional networks revealed negative emotion reactivity and working memory difficulties were central to the NDC sibling network. Over 15 months, poorer EF ( k low test scores) was predicted by negative emotion reactivity, sleep problems, and anxiety, over and above effects of age and subclinical autistic and ADHD traits. Siblings of autistic individuals and persons with fetal alcohol spectrum disorder had higher rates of neurocognitive and psychiatric difficulties than other NDCs and controls (Bayes factors >20)., Conclusions: Neurocognitive difficulties were associated with transdiagnostic vulnerability to poorer wellbeing in NDC siblings. These findings demonstrate the feasibility of remote online cognitive testing and highlight the importance of individualized prevention and intervention for NDC siblings.

Siblings of individuals with neurodevelopmental conditions (NDCs) are exposed to unique family environments and experience a range of psychosocial risk and resilience factors. Networks of self-reported risk, resilience, and neuropsychiatric variables were estimated for siblings of individuals with ( n  = 235) and without ( n  = 480) NDCs ( N  = 715, mean age 22.40 years, 76% female, 74% White Caucasian). The NDC group reported more depressive (g = 0.39) and anxious (g = 0.43) symptoms than controls, and 71.5% of the NDC group reported at least one neuropsychiatric diagnosis compared to 36.9% of controls. Self-reported sleep and post-traumatic stress disorders were high amongst NDC siblings. Everyday executive functioning difficulties (cognitive inflexibility, hyperactivity/impulsivity) and emotion dysregulation were the most influential transdiagnostic risk factors for poorer functioning within the NDC group network.

Siblings of persons with neurodevelopmental conditions (NDCs) have increased risk of poorer psychosocial functioning. This systematic review evaluated quantitative and qualitative evidence on sibling mental health and wellbeing outcomes following psychosocial interventions and the risk and protective factors associated with post-intervention outcomes. From 2025 identified studies published from 1991 to 2022 across ten databases, 24 studies were included. The largest immediate post-intervention improvements were in self-esteem, social wellbeing and knowledge of NDCs. The most sustained improvements in intervention groups at follow-up periods were in emotional and behavioural adjustment and NDC knowledge. There were positive, but small, differences in favour of the intervention groups on knowledge of NDCs, self-esteem, coping and the sibling relationship as compared to waitlist control groups. Psychosocial interventions for siblings are heterogeneous, and more data, including consideration of unique family circumstances, are needed to improve reporting and replicability, to measure effectiveness and tailor necessary supports., (© 2022. The Author(s).)

Objective: This pre-registered systematic review synthesised and evaluated the existing literature on self-reported mental health and wellbeing of siblings of individuals with neurodevelopmental conditions (NDCs)., Methods: From 2437 identified studies published 2000-2022, 81 studies were included: 14 population- or cohort-based, 39 quantitative, 7 mixed method, and 21 qualitative outcome studies., Results: Seven sibling mental health (any psychiatric disorder, anxiety, depression, bipolar disorder, schizophrenia, internalising and externalising difficulties) and five wellbeing indicators were identified (quality of life, emotional adjustment, social wellbeing, somatic/physical wellbeing, and resilience/growth). Overall, siblings had increased risk of any psychiatric disorder, but they also reported experiences of growth and resilience, primarily in qualitative studies. 41 risk factors and 24 resilience factors associated with these outcomes were identified; the most frequently cited risk factor was symptom severity of the NDC sibling, while the most common resilience factor was adaptive/active coping at the individual sibling level. Studies showed high methodological heterogeneity and 90 different self-report measures were used., Conclusions: Sibling mental health indictors are heterogeneous and cumulative risk factors may result in poorer wellbeing. There is a need for consistent reporting of family and sibling characteristics, a strengths-based approach to assessment, and identification of protective and resilience-promoting factors., Competing Interests: Declaration of Competing Interest The authors do not have any competing interests or possible conflicts of interest to declare., (Copyright © 2022. Published by Elsevier Ltd.)

Background: Birth order effects have been linked to variability in intelligence, educational attainment and sexual orientation. First- and later-born children have been linked to an increased likelihood of an Autism Spectrum Disorder (ASD) diagnosis, with a smaller body of evidence implicating decreases in cognitive functioning with increased birth order. The present study investigated the potential association between birth order and ASD diagnostic phenotypes in a large and representative population sample., Methods: Data were obtained from an ongoing prospective diagnostic registry, collected between 1999 and 2017, including children (1-18 years of age, n = 5,404) diagnosed with ASD in the state of Western Australia. Children with ASD were ranked relative to sibling's birth to establish birth order within families at time of ASD diagnosis. Information reported to the registry by health professionals at the time of diagnostic evaluation included demographic and family characteristics, functional abilities and intellectual capacity., Results: Adaptive functioning and intelligence scores decreased with increasing birth order, with later-born children more likely to have an intellectual disability. Compared to first-born children with siblings, first-born children without siblings at the time of diagnosis also exhibited decreased cognitive functioning., Conclusions: These findings demonstrate for the first time an association between increasing birth order and variability in ASD clinical phenotypes at diagnosis, with potential evidence of reproductive curtailment in children without siblings. Taken together, these findings have significant implications for advancing understanding about the potential mechanisms that contribute to heterogeneity in ASD clinical presentations as a function of birth order and family size., (© 2020 Association for Child and Adolescent Mental Health.)

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: Restricted and repetitive pattern of behaviours and interests (RRB) are a cardinal feature of autism spectrum disorder (ASD), but there remains uncertainty about how these diverse behaviours vary according to individual characteristics. This study provided the largest exploration to date of the relationship between Repetitive Motor Behaviours, Rigidity/Insistence on Sameness and Circumscribed Interests with other individual characteristics in newly diagnosed individuals with ASD., Method: Participants (N = 3,647; 17.7% females; Mage = 6.6 years [SD = 4.7]) were part of the Western Australian (WA) Register for ASD, an independent, prospective collection of demographic and diagnostic data of newly diagnosed cases of ASD in WA. Diagnosticians rated each of the DSM-IV-TR criteria on a 4-point Likert severity scale, and here we focused on the Repetitive Motor Behaviours, Insistence on Sameness and Circumscribed Interests symptoms., Results: The associations between RRB domains, indexed by Kendall's Tau, were weak, ranging from non-significant for both Circumscribed Interests and Repetitive Motor Behaviours to significant (.20) for Insistence on Sameness and Repetitive Motor Behaviours. Older age at diagnosis was significantly associated with lower Circumscribed Interests and significantly associated with higher Insistence on Sameness and Repetitive Motor Behaviours. Male sex was significantly associated with higher Repetitive Motor Behaviours but not Insistence on Sameness or Circumscribed Interests., Conclusions: The pattern of associations identified in this study provides suggestive evidence for the distinctiveness of Repetitive Motor Behaviours, Insistence on Sameness and Circumscribed Interests, highlighting the potential utility of RRB domains for stratifying the larger ASD population into smaller, more phenotypically homogeneous subgroups that can help to facilitate efforts to understand diverse ASD aetiology and inform design of future interventions., (© 2020 Association for Child and Adolescent Mental Health.)

Background: Positive health outcomes have been observed following gastrostomy insertion in children with intellectual disability, which is being increasingly used at younger ages to improve nutritional intake. This study investigated the effect of gastrostomy insertion on survival of children with severe intellectual disability., Methods: We used linked disability and health data of children and adolescents who were born in Western Australia between 1983 and 2009 to compare survival of individuals with severe intellectual disability by exposure to gastrostomy status. For those born in 2000-2009, we employed propensity score matching to adjust for confounding by indication. Effect of gastrostomy insertion on survival was compared by pertinent health and sociodemographic risk factors., Results: Compared with children born in the 1980s-1990s, probability of survival following first gastrostomy insertion for those born in 2000-2009 was higher (2 years: 94% vs. 83%). Mortality risk was higher in cases than that in their matched controls (hazard ratio 2.9, 95% confidence interval 1.1, 7.3). The relative risk of mortality (gastrostomy vs. non-gastrostomy) may have differed by sex, birthweight and time at first gastrostomy insertion. Respiratory conditions were a common immediate or underlying cause of death among all children, particularly among those undergoing gastrostomy insertion., Conclusions: Whilst gastrostomy insertion was associated with lower survival rates than children without gastrostomy, survival improved with time, and gastrostomy afforded some protection for the more vulnerable groups, and earlier use appears beneficial to survival. Specific clinical data that may be used to prioritise the need for gastrostomy insertion may be responsible for the survival differences observed., (© 2020 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and 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.)

Motor impairment is not currently included in the diagnostic criteria or evaluation of autism. This reflects the lack of large-scale studies demonstrating its prominence to advocate for change. We examined the prevalence of motor difficulties at the time of diagnosis in a large sample of children with autism utilizing standardized assessment, and the relationship between motor difficulties, core autism symptomology, and other prominent clinical features. Vineland Adaptive Behavior Scales were administered to children from the Western Australian Register for Autism Spectrum Disorders aged ≤6 years (N = 2,084; 81.2% males, 18.8% females). Prevalence of motor difficulties was quantified based on scores from the motor domain of the Vineland and then compared to other domains of functioning within the Vineland (communication, daily living, and socialization), the DSM criteria, intellectual level, age, and gender. Scores on the Vineland indicated that 35.4% of the sample met criteria for motor difficulties (standard score <70), a rate almost as common as intellectual impairment (37.7%). Motor difficulties were reported by diagnosing clinicians in only 1.34% of cases. Motor difficulties were common in those cases meeting diagnostic criteria for impairments in nonverbal behavior and the presence of restricted and repetitive behaviors. The prevalence of motor difficulties also increased with increasing age of diagnosis (P < 0.001). Findings from the present study highlight the need for further consideration of motor difficulties as a distinct specifier within the diagnostic criteria for ASD. Autism Res 2020, 13: 298-306. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In this population-based cohort that included 2,084 children with autism aged ≤6 years, over one-third met the criteria for motor difficulties, a rate almost as common as intellectual disability. This study demonstrates that motor difficulties are a prominent feature of the autism phenotype requiring further consideration in both the diagnostic criteria and evaluation of autism., (© 2019 International Society for Autism Research, Wiley Periodicals, Inc.)

'High functioning autism' is a term often used for individuals with autism spectrum disorder without an intellectual disability. Over time, this term has become synonymous with expectations of greater functional skills and better long-term outcomes, despite contradictory clinical observations. This study investigated the relationship between adaptive behaviour, cognitive estimates (intelligence quotient) and age at diagnosis in autism spectrum disorder. Participants ( n  = 2225, 1-18 years of age) were notified at diagnosis to a prospective register and grouped by presence ( n  = 1041) or absence ( n  = 1184) of intellectual disability. Functional abilities were reported using the Vineland Adaptive Behaviour Scales. Regression models suggested that intelligence quotient was a weak predictor of Vineland Adaptive Behaviour Scales after controlling for sex. Whereas the intellectual disability group's adaptive behaviour estimates were close to reported intelligence quotients, Vineland Adaptive Behaviour Scales scores fell significantly below intelligence quotients for children without intellectual disability. The gap between intelligence quotient and Vineland Adaptive Behaviour Scales scores remained large with increasing age at diagnosis for all children. These data indicate that estimates from intelligence quotient alone are an imprecise proxy for functional abilities when diagnosing autism spectrum disorder, particularly for those without intellectual disability. We argue that 'high functioning autism' is an inaccurate clinical descriptor when based solely on intelligence quotient demarcations and this term should be abandoned in research and clinical practice.

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.

Objective: Familial recurrence risk is an important population-level measure of the combined genetic and shared familial liability of autism spectrum disorder (ASD). Objectives were to estimate ASD recurrence risk among siblings and cousins by varying degree of relatedness and by sex., Method: This is a population-based cohort study of livebirths from 1998 to 2007 in California, Denmark, Finland, Israel, Sweden and Western Australia followed through 2011 to 2015. Subjects were monitored for an ASD diagnosis in their older siblings or cousins (exposure) and for their ASD diagnosis (outcome). The relative recurrence risk was estimated for different sibling and cousin pairs, for each site separately and combined, and by sex., Results: During follow-up, 29,998 cases of ASD were observed among the 2,551,918 births used to estimate recurrence in ASD and 33,769 cases of childhood autism (CA) were observed among the 6,110,942 births used to estimate CA recurrence. Compared with the risk in unaffected families, there was an 8.4-fold increase in the risk of ASD following an older sibling with ASD and a 17.4-fold increase in the risk of CA following an older sibling with CA. A 2-fold increase in the risk for cousin recurrence was observed for the 2 disorders. There also was a significant difference in sibling ASD recurrence risk by sex., Conclusion: The present estimates of relative recurrence risks for ASD and CA will assist clinicians and families in understanding autism risk in the context of other families in their population. The observed variation by sex underlines the need to deepen the understanding of factors influencing ASD familial risk., (Copyright © 2019 American Academy of Child and Adolescent Psychiatry. All rights reserved.)

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.

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., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Objective: Gastrostomy insertion in pediatrics is usually used in children with complex needs and severe disability. The accessibility and acceptance of the procedure is increasing but population-based occurrence data are lacking and there is limited understanding of its use in clinical subgroups., Methods: This birth cohort study investigated the trends in first gastrostomy insertion among a pediatric population born between 1983 and 2009 in Western Australia using linked administrative and health data collected over a 32-year period (1983-2014). Indications were identified using diagnosis codes from linked hospitalization data and grouped according to a refined classification system. Age and birth cohort patterns of first gastrostomy use, over calendar year and age respectively, were described., Results: Of the 690,688 children born between 1983 and 2009, 466 underwent a gastrostomy insertion. Overall, the prevalence was approximately 7 cases per 10,000 births. New gastrostomy insertions were increasingly performed in children during the preschool years over calendar years and in successive birth cohorts. Children with a neurological disorder constituted the largest group receiving gastrostomy (n = 372; 79.8) including 325 (87.4%) with comorbid intellectual disability., Conclusions: New gastrostomy insertion among children who require long-term enteral feeding support increased over the study period. The procedure is most often performed in the context of severe neurological disability, including intellectual disability, and offers families potential for long-term home-based management of feeding difficulties.

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.)

The increasing prevalence of Autism Spectrum Disorders (ASD) may in part be due to a shift in the diagnostic threshold that has led to individuals with a less severe behavioral phenotype receiving a clinical diagnosis. This study examined whether there were changes over time in the qualitative and quantitative phenotype of individuals who received the diagnosis of Autistic Disorder. Data were from a prospective register of new diagnoses in Western Australia (n = 1252). From 2000 to 2006, we examined differences in both the percentage of newly diagnosed cases that met each criterion as well as severity ratings of the behaviors observed (not met, partially met, mild/moderate and extreme). Linear regression determined there was a statistically significant reduction from 2000 to 2006 in the percentage of new diagnoses meeting two of 12 criteria. There was also a reduction across the study period in the proportion of new cases rated as having extreme severity on six criteria. There was a reduction in the proportion of individuals with three or more criteria rated as extreme from 2000 (16.0%) to 2006 (1.6%), while percentage of new cases with no "extreme" rating on any criteria increased from 58.5% to 86.6% across the same period. This study provides the first clear evidence of a reduction over time in the behavioral severity of individuals diagnosed with Autistic Disorder during a period of stability in diagnostic criteria. A shift toward diagnosing individuals with less severe behavioral symptoms may have contributed to the increasing prevalence of Autistic Disorder diagnoses. Autism Res 2017, 10: 179-187. © 2016 International Society for Autism Research, Wiley Periodicals, Inc., (© 2017 International Society for Autism Research, Wiley Periodicals, Inc.)

Objective: To calculate the survival of people with Down syndrome over the past 60 years and the influence of major perinatal factors by using linked population-based data., Study Design: A data linkage between 2 Western Australian (WA) data sets (the Register for Developmental Anomalies and the Intellectual Disability Exploring Answers database) was used to identify 772 children born with Down syndrome in WA from 1980-2010. Perinatal and mortality data were extracted from the WA Midwives Information System and WA death registrations and compared with the remaining WA population born during that same era. An additional 606 children with Down syndrome living in WA prior to 1980 were available from a disability services database and were used for predicting survival into adulthood., Results: Overall, for cases born 1953-2010, 88% (95% CI 86%, 90%) survived to 5 years of age, 87% (95% CI 85%, 89%) to 10 years, and 83% (95% CI 80%, 85%) to 30 years. Children live-born with Down syndrome were significantly more likely (all P > .001) to have mothers older than 35 years (32.7% vs 13.4%), a gestational age less than 37 weeks (23.8% vs 7.9%), a cesarean delivery (28.9% vs 23.0%), and a birth weight less than 2500 g (20.4% vs 6.1%). Down syndrome survival was reduced in the presence of a cardiovascular defect, younger gestational age, low birth weight, or earlier birth years., Conclusions: Improved survival for children born with Down syndrome over the last 60 years has occurred incrementally, but disparities still exist for children who are preterm or have low birth weight., (Crown Copyright © 2016. Published by Elsevier Inc. All rights reserved.)

Background: Few studies have examined the familial aggregation of melanoma or its co-aggregation with other cancers using whole-population based designs. This study aimed to investigate aggregation patterns in young Western Australian families, using population-based linked health data to identify individuals born in Western Australia between 1974 and 2007, their known relatives, and all incident cancer diagnoses within the resulting 1,506,961 individuals., Methods: Cox proportional hazards regression models were used to compare the risk of melanoma for first-degree relatives of melanoma cases to that for first-degree relatives of controls, with bootstrapping used to account for correlations within families. The risk of (i) developing melanoma based on the number of first-degree relatives with other cancers, and (ii) developing non-melanoma cancers based on the number of first-degree relatives diagnosed with melanoma was also investigated., Results: First-degree relatives of melanoma cases had a significantly greater incidence of melanoma than first-degree relatives of individuals not affected with melanoma (Hazard Ratio (HR)=3.58, 95% bootstrap confidence interval (CI): 2.43-5.43). Sensitivity analyses produced a higher hazard ratio estimate when restricted to melanoma cases diagnosed before 40 years of age (HR=3.77, bootstrap 95% CI: 2.49-6.39) and a lower estimate when only later-onset cases (>40 years) were considered (HR=2.45, bootstrap 95% CI: 1.23-4.82). No significant evidence was found for co-aggregation between melanoma and any other cancers., Conclusions: Results indicated a strong familial basis of melanoma, with the higher than expected hazard ratio observed likely to reflect early-age at onset cases in this young cohort, supported by the results of the sensitivity analyses. Exploratory analyses suggested that the determinants of melanoma causing the observed aggregation within families may be independent of other malignancies, although these analyses were limited by the young age of the sample. Determining familial aggregation patterns will provide valuable knowledge regarding improved clinical risk prediction and the underlying biological mechanisms of melanoma and other cancers., (Copyright © 2015 Elsevier Ltd. All rights reserved.)

Background: Major increases in the survival of people with Down syndrome during the last two generations have resulted in extended periods of adulthood requiring specialist care, which in turn necessitates greater understanding of the nature, timing and impact of comorbidities associated with the disorder., Method: The prevalence of five comorbidities reported as common in adults with Down syndrome, visual impairment, hearing impairment, epilepsy, thyroid disorders and dementia was assessed by decade of life., Results: From early adulthood, people with Down syndrome are at enhanced risk of developing new comorbidities and they may present with multiple conditions. Three specific challenges are identified and discussed: are comorbidities detected in a timely manner, is the clinical progress of the disorder adequately understood, and who is responsible for the provision of care?, Conclusions: Further detailed investigations into the development and treatment of comorbidities across the lifespan are needed for a successful longitudinal approach to healthcare in people with Down syndrome. Implementation of this approach will better inform healthcare providers to ensure continuity of care with advancing age., (© 2013 The Authors. Journal of Intellectual Disability Research © 2013 John Wiley & Sons Ltd, MENCAP & IASSIDD.)

Aim: To investigate using a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families., Method: Hospital admissions for single gene and chromosome disorders recorded during 2000-2006 were identified from the WA Hospital Morbidity Data System. The proportion of these conditions occurring in family groups was then identified using genealogical links created through the WA Family Connections Genealogical Project., Results: There were 216 family clusters among 11,303 people who were recorded as having a genetic or chromosomal disorder on their hospital admission record. The most common single gene conditions found to occur in multiple family members included blood clotting disorders such as Factor VIII deficiency and Von Willebrand's disease, followed by cystic fibrosis, myotonic dystrophies, neurofibromatosis, tuberous sclerosis, and osteogenesis imperfecta., Discussion: Single gene disorders most commonly occurring in multiple family members have been identified using the WA Family Connections Genealogical Project. These disorders reflect the most common single gene disorders requiring hospital admission, but which are not fatal before reproductive age and do not result in a loss of fertility. They are also restricted to disorders with earlier onset, as the WA Family Connections Genealogical Project currently covers 2-3 of the most recent generations. This study demonstrates the utility of record linkage genealogies to identify kindred with genetic disorders, offering a rich resource of information for focused genetic epidemiological research.

Background: As well as being highly comorbid conditions, autism spectrum disorders (ASD) and intellectual disability (ID) share a number of clinically-relevant phenomena. This raises questions about similarities and overlap in diagnosis and aetiological pathways that may exist for both conditions., Aims: To examine maternal conditions and perinatal factors for children diagnosed with an ASD, with or without ID, and children with ID of unknown cause, compared with unaffected children., Methods: The study population comprised all live singleton births in Western Australia (WA) between January 1984 and December 1999 (N = 383,153). Univariate and multivariate multinomial logistic regression models were applied using a blocked modelling approach to assess the effect of maternal conditions, sociodemographic factors, labour and delivery characteristics and neonatal outcomes., Results: In univariate analyses mild-moderate ID was associated with pregnancy hypertension, asthma, urinary tract infection, some types of ante-partum haemorrhage, any type of preterm birth, elective C-sections, breech presentation, poor fetal growth and need for resuscitation at birth, with all factors showing an increased risk. Severe ID was positively associated with poor fetal growth and need for resuscitation, as well as any labour or delivery complication. In the multivariate analysis no maternal conditions or perinatal factors were associated with an increased risk of ASD without ID. However, pregnancy hypertension and small head circumference were associated with a reduced risk (OR = 0.64, 95% CI: 0.43, 0.94; OR = 0.58, 95% CI: 0.34, 0.96, respectively). For ASD with ID, threatened abortion before 20 weeks gestation and poor fetal growth were associated with an increased risk., Conclusion: Findings show that indicators of a poor intrauterine environment are associated with an elevated risk of ID, while for ASD, and particularly ASD without ID, the associations are much weaker. As such, these findings highlight the importance of accounting for the absence or presence of ID when examining ASD, if we are to improve our understanding of the causal pathways associated with these conditions.

Prevalence statistics for autism spectrum disorders (ASD) vary widely across geographical boundaries. Some variation can be explained by diagnostic methods, case ascertainment and age at diagnosis. This study compared prevalence statistics for two distinct geographical regions, Denmark and Western Australia, both of which have had population-based registers and consistent classification systems operating over the past decade. Overall ASD prevalence rates were higher in Denmark (68.5 per 10,000 children) compared with Western Australia (51.0 per 10,000 children), while the diagnosis of childhood autism was more prevalent in Western Australia (39.3 per 10,000 children) compared with Denmark (21.8 per 10,000 children). These differences are probably caused by local phenomena affecting case ascertainment but influence from biological or geographical factors may exist.

Background: It is well recognized that genetic disease makes a significant contribution to childhood illness. Here, we present recent population data describing the impact of single gene and chromosomal disorders on hospital admissions of children and adolescents., Methods: Hospital admissions for patients aged 0-19 years between 2000 and 2006, with a single gene or chromosomal disorder, were extracted from the Western Australian Hospital Morbidity Data System using 296 diagnosis codes identified from the International Statistical Classification of Diseases, Tenth Revision, Australian Modification. Data extracted for each patient included the number, length and cost of all admissions., Results: Between 2000 and 2006, 14,197 admissions were identified for 3,271 patients aged 0-19 years with single gene and chromosomal disorders, representing 2.6% of admissions and 4.3% of total hospital costs in this age group. Patients with genetic disorders had more admissions and stayed longer in hospital than patients admitted for any reason. Specific disorders associated with a high demand on hospital services included cystic fibrosis, Down syndrome, osteogenesis imperfecta, thalassemia, and von Willebrand's disease., Conclusions: Children and adolescents with single gene and chromosomal disorders placed higher demands on hospital services than other patients in their age group, but were responsible for a relatively small proportion of hospital admissions and costs. These data will enable informed planning of health care services for patients with single gene and chromosomal disorders in Western Australia., (Copyright © 2010 S. Karger AG, Basel.)

The causes of autism spectrum disorders (ASDs) are unknown, although genetic and environmental influences have been implicated. Previous studies have suggested an association with birth defects, but most investigators have not addressed associations with specific diagnostic categories of ASD. In this study, the authors investigated the associations between birth defects and autism, Asperger syndrome, and pervasive developmental disorder not otherwise specified. Using Western Australian population-based linked data, the authors compared all children with ASD born in Western Australia during 1980-1995 (n = 465) with their siblings (n = 481) and population controls (n = 1,313) in a nested case-control study. The prevalence of birth defects was significantly higher in ASD cases than in population controls; this difference remained significant after adjustment for confounding factors. Odds ratios for birth defects were similar for autism (odds ratio (OR) = 2.0, 95% confidence interval (CI): 1.3, 3.0) and pervasive developmental disorder not otherwise specified (OR = 2.2, 95% CI: 1.1, 4.3) but not for Asperger syndrome (OR = 0.5, 95% CI: 0.1, 1.9). Birth defects in case siblings were not significantly different from those in cases and population controls. The association between birth defects and ASD may be due to underlying genetic and/or environmental factors common to both ASD and birth defects, or birth defects may predispose a child to ASD.

Background: Disability research data often exist in the form of individual records located within discrete registers that may extend across sensitive political boundaries., Method: This paper discusses the opportunities and challenges associated with using linked health and administrative data for disability research, with examples from research projects conducted both in Australia and overseas., Results: Linked data offer distinct value in providing a comprehensive profile for a range of health issues, such as morbidity, mortality, assessing health care costs and/or quality of service provision., Conclusions: While the use of record linkage in health research is not a novel concept, recent advances in technology and electronic data management plus improved data linkage protocols have markedly increased the feasibility and opportunity for successfully utilising data linkage for the purposes of research, while at the same time protecting the privacy of the individual. An awareness and appropriate management of the associated challenges is required to maximise the outcomes of disability research using linked data.

Objectives: The report describes the strategic design, steps to full implementation and outcomes achieved by the Western Australian Data Linkage System (WADLS), instigated in 1995 to link up to 40 years of data from over 30 collections for an historical population of 3.7 million. Staged development has seen its expansion, initially from a linkage key to local health data sets, to encompass links to national and local health and welfare data sets, genealogical links and spatial references for mapping applications., Applications: The WADLS has supported over 400 studies with over 250 journal publications and 35 graduate research degrees. Applications have occurred in health services utilisation and outcomes, aetiologic research, disease surveillance and needs analysis, and in methodologic research., Benefits: Longitudinal studies have become cheaper and more complete; deletion of duplicate records and correction of data artifacts have enhanced the quality of information assets; data linkage has conserved patient privacy; community machinery necessary for organised responses to health and social problems has been exercised; and the commercial return on research infrastructure investment has exceeded 1000%. Most importantly, there have been unbiased contributions to medical knowledge and identifiable advances in population health arising from the research.

Aim: To assess whether existing data collection mechanisms can provide accurate and sufficient information about the prevalence of autism in Australia., Methods: Summary data about the number of children aged 0-16 years known to have an autism spectrum disorder (ASD) were gathered from State and Territory health, disability, education sources and autism associations. Summary data were also provided by national sources. Initial contact was made by letter, and follow-up was undertaken by telephone or email., Results: For the years 2003-2004, the estimated prevalence of autism for 6- to 12-year-olds ranged from 9.6 to 40.8/10 000 for the State and Territory data, and from 12.1 to 35.7/10 000 for the national data. There was a similar variation in prevalence estimates for children aged 0-5 and 13-16 years. There was also a variation in prevalence estimates between age groups., Conclusion: Inconsistencies in autism prevalence estimates calculated from existing data sources suggest that further efforts are needed to ensure the collection of reliable information about the prevalence of ASD for national, State and Territory use. Existing data systems need to be improved or additional data systems need to be developed to ensure the collection of reliable information. Reliable and consistent ASD prevalence data would ensure that services are being provided to those who need them and would enhance the opportunities to undertake meaningful population-based research.

Autism spectrum disorders (ASDs) are severe developmental conditions that require specialised intervention and lifelong support. Recent increases in ASD prevalence have prompted new initiatives in Western Australia to improve the consistency of assessments and to more accurately monitor diagnostic trends within the population. WA has implemented statewide guidelines for the assessment of ASDs, has developed an open forum for clinicians to discuss issues relating to the assessment process, and supports a statewide register of newly diagnosed cases. These initiatives have led to improved consistency across assessments, allowed analysis of diagnoses over time, and promoted cohesiveness among autism assessors. These strategies potentially provide an alternative model for other states and territories that wish to strengthen and assimilate ASD assessments.

Background: Down syndrome (DS) affects approximately 1 per 650-1000 live births and is the most common known genetic cause of intellectual disability. A highly significant change in the survival of people with DS has occurred during the last two generations, with life expectancy estimates increasing from 12 to nearly 60 years of age., Subjects and Methods: Detailed information on 1332 people in Western Australia with DS was abstracted from a specialist statewide database for the period 1953-2000 and electronically linked with three other state or national health and mortality data sources and the state Birth Defects Registry., Results: Over the last 25 years the percentage of women over 35 years giving birth increased from 4.8 to 18.6%, accompanied by an increase in the overall prevalence of DS from 1.1 to 2.9 per 1000 births. Four life stages of DS were identified: prenatal, childhood and early adulthood, adulthood, and senescence. Although pneumonia, or other types of respiratory infections, was the most common cause of death across the entire lifespan, ranging from 23% of deaths in adulthood to 40% in senescence, each life stage exhibited a particular profile of comorbidities. Congenital heart defects were common causes in childhood (13%) and adulthood (23%), whereas in senescence coronary artery disease (10%) and cardiac, renal, and respiratory failure (9%) were leading causes of mortality., Conclusions: A major re-appraisal in attitudes towards DS is required to ensure that the medical and social needs of people with the disorder are adequately met across their entire lifespan. In particular, specific recognition of the comorbidities that can arise at different ages is needed, accompanied by the provision of appropriate levels of care and management.

Background: The health and well-being of Indigenous people is a significant global problem, and Aboriginal Australians suffer from a considerably higher burden of disease and lower life expectancy than the non-Indigenous population. Intellectual disability (ID) can further compromise health, but there is little information that documents the prevalence of ID among indigenous populations. This study provides information on ID among the Aboriginal population of Western Australia., Methods: The Disability Services Commission (DSC) of Western Australia has maintained a statewide database of people with ID since 1953. Data on people of Aboriginal descent were extracted from the DSC database and linked to two other state-based databases, the Hospital Morbidity Data System and the Deaths Registry, with additional linkage to the National Death Index. The linked data were used to assess the prevalence, survival patterns and causes of death in Aboriginal people with ID., Results: Although comprising 3.5% of the population, Aboriginal Australians represented 7.4% of all people registered for ID services. The level of ID was assessed as borderline or mild in 40.7% of cases, moderate in 19.9%, severe or profound in 12.1%, but had not been specified in 27.2% cases. Median survival was 55.1 years for men and 64.0 years for women, with a mean age at death (n = 102) of 19.6 years. The leading causes of death were respiratory diseases, diseases of the circulatory system, and accidents., Conclusions: The study presents unique population summary data for ID in the Aboriginal community of Western Australia. To provide appropriate prevention and intervention strategies, there is an urgent need for more detailed information on the prevalence and patterns of ID.

Aim: To ascertain the incidence of autism spectrum disorders in Australian children., Setting: New South Wales (NSW) and Western Australia (WA), July 1999 to December 2000., Design: Data were obtained for WA from a prospective register and for NSW by active surveillance., Main Outcome Measures: Newly recognised cases of autism spectrum disorders (defined as autistic disorder, Asperger disorder and pervasive developmental disorder not otherwise specified [PDD-NOS]) in children aged 0-14 years; incidence was estimated in 5-year age bands (0-4 years, 5-9 years, 10-14 years)., Results: In WA, 252 children aged 0-14 years were identified with autism spectrum disorder (169 with autistic disorder and 83 with Asperger disorder or PDD-NOS). Comparable figures in NSW were 532, 400 and 132, respectively. Most children were recognised with autistic disorder before school age (median age, 4 years in WA and 3 years in NSW). Incidence of autistic disorder in the 0-4-years age group was 5.5 per 10,000 in WA (95% CI, 4.5-6.7) and 4.3 per 10,000 in NSW (95% CI, 3.8-4.8). Incidence was lower in older age groups. The ratio of all autism spectrum disorders to autistic disorder alone was 1.5:1 in WA and 1.3:1 in NSW, and rose with age (1.8:1 and 2.9:1 in 10-14-year-olds in WA and NSW, respectively)., Conclusions: These are the first reported incidence rates for autism for a large Australian population and are similar to rates reported from the United Kingdom. Ongoing information gathering in WA and repeat active surveillance in NSW will help to monitor any future changes.