Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia.

OBJECTIVE: To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies (CFAs). METHODS: Data on livebirths (1983-2010; n = 721 019) including rare CFA (craniofacial microsomia, mandibulofacial dysostosis, Pierre Robin sequence, Van der Woude syndrome, and frontonasal dysplasia), episodes of death, and demographic and perinatal factors were identified from the Western Australian Register of Developmental Anomalies, Death Registrations and Midwives Notification System. Information on incident craniofacial and noncraniofacial related admissions, length of hospital stay, and intensive care and emergency-related admissions were identified using principal diagnosis and procedural codes were extracted from the Hospital Morbidity Data Collection and linked to other data sources. Associations of hospitalizations by age groups as well as demographic and perinatal factors were expressed as incidence rate ratio (IRR). RESULTS: The incident hospitalizations were 3 times as high for rare CFA (IRR 3.22-3.72) throughout childhood into adolescence than those without. Children with rare CFA had 3-4 times as many potentially preventable hospitalizations until 18 years of age than those without. Specifically, respiratory infections (IRR 2.13-2.35), ear infections (IRR 7.92-26.28), and oral health-related conditions contributed for most noncraniofacial admissions until the adolescence period. A greater incidence of noncraniofacial related hospitalizations was observed among Indigenous children, births with intrauterine growth restrictions, and families with high socioeconomic disadvantage. CONCLUSIONS: Throughout childhood, individuals with rare CFA had greater hospital service use, specifically for potentially preventable conditions, than those without. These population-level findings can inform new preventive strategies and early disease management targeted toward reducing preventable hospitalizations.

Patterns, trends, and factors influencing hospitalizations for craniosynostosis in Western Australia. A population-based study.

Understanding hospital service use among children with a diagnosis of craniosynostosis (CS) is important to improve services and outcomes. This study aimed to describe population-level trends, patterns, and factors influencing hospitalizations for craniosynostosis in Western Australia. Data on live births (1990-2010; n = 554,624) including craniosynostosis, episodes of death, demographic, and perinatal factors were identified from the midwives, birth defects, hospitalizations, and death datasets. Information on craniosynostosis and non-craniosynostosis-related admissions, cumulative length of hospital stay (cLoS), intensive care unit, and emergency department-related admissions were extracted from the hospitalization dataset and linked to other data sources. These associations were examined using negative binomial regression presented as annual percent change and associations of hospitalizations by age groups, demographic, and perinatal factors were expressed as incidence rate ratio (IRR). We found an increasing trend in incident hospitalizations but a marginal decline in cLoS for craniosynostosis over the observed study period. Perinatal conditions, feeding difficulties, nervous system anomalies, respiratory, and other infections contributed to majority of infant non-CS-related admissions.Respiratory infections accounted for about twice the number of admissions for individuals with CS (IRRs 1.94-2.34) across all observed age groups. Higher incidence of non-CS hospitalizations was observed among females, with associated anomalies, to families with highest socioeconomic disadvantage and living in remote areas of the state.   Conclusion: Marginal reduction in the cLoS for CS-related admissions observed over the 21-year period are potentially indicative of improved peri-operative care. However, higher incidence of respiratory infection-related admissions for syndromic synostosis is concerning and requires investigation.

Intellectual disabilities and autism among children with congenital heart defects, Western Australia, 1983-2010.

BACKGROUND: Children with congenital heart defects (CHDs) are at higher risk of developing an intellectual disability. However, severity of intellectual disabilities among this group of children are largely unknown. Our objective was to determine the risk of intellectual disability (ID), ID severity, and autism among children with CHDs. METHODS: We conducted a retrospective cohort study of singleton live births in Western Australia (n = 20,592) between 1983 and 2010. Children with CHDs were identified from the Western Australian Register for Developmental Anomalies (n = 6563) and infants without CHDs were randomly selected from state birth records (n = 14,029). Children diagnosed with ID before 18 years were identified by linkage to statewide Intellectual Disability Exploring Answers database. Odds ratios (OR) and 95% confidence intervals (CI) were calculated from logistic regression models for all CHDs combined and by CHD severity adjusting for potential confounders. RESULTS: Of 20,592 children, 466 (7.1%) with CHDs and 187 (1.3%) without CHDs had an ID. Compared to children without CHDs, children with any CHD had 5.26 times (95% CI 4.42, 6.26) the odds of having an ID and 4.76 times (95% CI 3.98, 5.70) the odds of having mild/moderate ID. Children with any CHD had 1.76 times the odds of having autism (95% CI 1.07, 2.88), and 3.27 times the odds of having an unknown cause of ID (95% CI 2.65, 4.05) compared to children without CHD. The risk of having autism (aOR 3.23, 95% CI 1.11, 9.38), and unknown cause of ID (aOR 3.45, 95% CI 2.09, 5.70) was greatest for children with mild CHD. CONCLUSIONS: Children with CHDs were more likely to have an ID or autism. Future research should elucidate underlying etiology of ID in children with CHDs.

Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study.

OBJECTIVE: To describe birth prevalence of rare craniofacial anomalies and associations with antenatal and perinatal factors. STUDY DESIGN: All live and stillbirths in Western Australia between 1980 and 2010 were identified from the Western Australian Birth Registrations and the Midwives Notification System (also provides information on antenatal and perinatal factors). Rare craniofacial anomalies (craniosynostosis, craniofacial microsomia, and others [Pierre Robin, Van der Woude, and Treacher Collins syndrome]) were ascertained from the Western Australian Register of Developmental Anomalies and linked to other data sources. Trends in prevalence, adjusted for sex and Indigenous status, were investigated by Poisson regression and presented as annual percent change (APC). Strengths of association of related factors were assessed using multivariable log-binomial regression adjusted for sex, Indigenous status, birth year, socioeconomic disadvantage, and remoteness and reported as risk ratios with 95% CIs. RESULTS: There was a temporal increase in prevalence of metopic synostosis (APC 5.59 [2.32-8.96]) and craniofacial microsomia (Goldenhar syndrome) (APC 4.43 [1.94-6.98]). Rare craniofacial anomalies were more likely among infants born preterm, as twins or greater-order multiples, with growth restriction, to older parents, to mothers undertaking fertility treatments, and with pre-existing medical conditions, specifically epilepsy, diabetes, or hypothyroidism. Prenatal identification of rare craniofacial anomalies was uncommon (0.6%). CONCLUSIONS: Our findings indicate a steady increase over time in prevalence of metopic synostosis and craniofacial microsomia (Goldenhar syndrome). Possible associations of fertility treatments and pre-existing maternal medical conditions with rare craniofacial anomalies require further investigation.

Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study.

BACKGROUND: Accurate knowledge of the relationship between craniofacial anomalies (CFA), intellectual disability (ID) and autism spectrum disorder (ASD) is essential to improve services and outcomes. The aim is to describe the association between CFA, ID and ASD using linked population data. METHODS: All births (1983-2005; n = 566,225) including CFA births (comprising orofacial clefts, craniosynostosis, craniofacial microsomia and mandibulofacial dysostosis) surviving to 5 years were identified from the birth, death, birth defects and midwives population data sets. Linked data from these data sets were followed for a minimum of 5 years from birth until 2010 in the intellectual disability database to identify ID and ASD. These associations were examined using a modified Poisson regression. RESULTS: Prevalence of ID and ASD was higher among CFA (especially with additional anomalies) than those without [prevalence ratio 5.27, 95% CI 4.44, 6.25]. It was higher among CFA than those with other gastrointestinal and urogenital anomalies but lower than nervous system and chromosomal anomalies. Children with CFA and severe ID had a higher proportion of nervous system anomalies. CONCLUSIONS: Findings indicate increased ID and ASD among CFA but lower than nervous system and chromosomal anomalies. This population evidence can improve early identification of ID/ASD among CFA and support service planning. IMPACT: Our study found about one in ten children born with craniofacial anomalies (CFA) are later identified with intellectual disability (ID). Prevalence of ID among CFA was higher than those with other gastrointestinal, urogenital, and musculoskeletal birth defects but lower than those with the nervous system and chromosomal abnormalities. Most children with craniofacial anomalies have a mild-to-moderate intellectual disability with an unknown aetiology. On average, intellectual disability is identified 2 years later for children born with non-syndromic craniofacial anomalies than those with syndromic conditions. Our findings can improve the early identification of ID/ASD among CFA and support service planning.

Risk of Hospitalizations Following Gastrostomy in Children with Intellectual Disability.

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.

Prevalence estimates of mental health problems in children and adolescents with intellectual disability: A systematic review and meta-analysis.

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.

Predicting Long-Term Survival Without Major Disability for Infants Born Preterm.

OBJECTIVE: To describe the long-term neurodevelopmental and cognitive outcomes for children born preterm. STUDY DESIGN: In this retrospective cohort study, information on children born in Western Australia between 1983 and 2010 was obtained through linkage to population databases on births, deaths, and disabilities. For the purpose of this study, disability was defined as a diagnosis of intellectual disability, autism, or cerebral palsy. The Kaplan-Meier method was used to estimate the probability of disability-free survival up to age 25 years by gestational age. The effect of covariates and predicted survival was examined using parametric survival models. RESULTS: Of the 720 901 recorded live births, 12 083 children were diagnosed with disability, and 5662 died without any disability diagnosis. The estimated probability of disability-free survival to 25 years was 4.1% for those born at gestational age 22 weeks, 19.7% for those born at 23 weeks, 42.4% for those born at 24 weeks, 53.0% for those born at 25 weeks, 78.3% for those born at 28 weeks, and 97.2% for those born full term (39-41 weeks). There was substantial disparity in the predicted probability of disability-free survival for children born at all gestational ages by birth profile, with 5-year estimates of 4.9% and 10.4% among Aboriginal and Caucasian populations, respectively, born at 24-27 weeks and considered at high risk (based on low Apgar score, male sex, low sociodemographic status, and remote region of residence) and 91.2% and 93.3%, respectively, for those at low risk (ie, high Apgar score, female sex, high sociodemographic status, residence in a major city). CONCLUSIONS: Apgar score, birth weight, sex, socioeconomic status, and maternal ethnicity, in addition to gestational age, have pronounced impacts on disability-free survival.

Epidemiology of gastrostomy insertion for children and adolescents with intellectual disability.

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.

Evolving Trends of Gastrostomy Insertion Within a Pediatric Population.

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.

Twenty-Five Year Survival of Children with Intellectual Disability in Western Australia.

OBJECTIVES: To investigate survival up to early adulthood for children with intellectual disability and compare their risk of mortality with that of children without intellectual disability. STUDY DESIGN: This was a retrospective cohort study of all live births in Western Australia between January 1, 1983 and December 31, 2010. Children with an intellectual disability (n = 10 593) were identified from the Western Australian Intellectual Disability Exploring Answers Database. Vital status was determined from linkage to the Western Australian Mortality database. Kaplan-Meier product limit estimates and 95% CIs were computed by level of intellectual disability. Hazard ratios (HRs) and 95% CIs were calculated from Cox proportional hazard regression models adjusting for potential confounders. RESULTS: After adjusting for potential confounders, compared with those without intellectual disability, children with intellectual disability had a 6-fold increased risk of mortality at 1-5 years of age (adjusted HR [aHR] = 6.0, 95%CI: 4.8, 7.6), a 12-fold increased risk at 6-10 years of age (aHR = 12.6, 95% CI: 9.0, 17.7) and a 5-fold increased risk at 11-25 years of age (aHR = 4.9, 95% CI: 3.9, 6.1). Children with severe intellectual disability were at even greater risk. No difference in survival was observed for Aboriginal children with intellectual disability compared with non-Aboriginal children with intellectual disability. CONCLUSIONS: Although children with intellectual disability experience higher mortality at all ages compared with those without intellectual disability, the greatest burden is for those with severe intellectual disability. However, even children with mild to moderate intellectual disability have increased risk of death compared with unaffected children.

Risk of Mortality into Adulthood According to Gestational Age at Birth.

OBJECTIVES: To quantify the independent risks of neonatal (0-28 days), postneonatal (29-364 days), 1- to 5- and 6- to 30-year mortality by gestational age and investigate changes in survival over time in an Australian birth cohort. STUDY DESIGN: Maternal and birth related Western Australian population data (1980-2010) were linked to the state mortality data using a retrospective cohort study design involving 722 399 live-born singletons infants. RESULTS: When compared with 39- to 41-week born infants, the adjusted risk ratio for neonatal mortality was 124.8 (95% CI 102.9-151.3) for 24-31 weeks of gestation, 3.4 (95% CI 2.4-4.7) for 35-36 weeks of gestation, and 1.4 (95% CI 1.1-1.8) for 37-38 weeks of gestation. For 24-31 weeks of gestation infants, the adjusted hazard ratio for postneonatal mortality (29-364 days) was 13.9 (95% CI 10.9-17.6), for 1- to 5-year mortality 1.4 (95% CI 0.7-3.0) and for 6- to 30-year mortality 1.3 (95% CI 0.8-2.3). The risk of neonatal and postneonatal mortality for those born preterm decreased over time. CONCLUSIONS: In Western Australia, late preterm and early term infants experienced higher risk of neonatal and postneonatal mortality when compared with their full-term peers. There was insufficient evidence to show that gestational length was independently associated with mortality beyond 1 year of age. Neonatal and postneonatal mortality improved with each decade of the study period.

Improved Survival in Down Syndrome over the Last 60 Years and the Impact of Perinatal Factors in Recent Decades.

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.

Twenty-five-year survival for aboriginal and caucasian children with congenital heart defects in Western Australia, 1980 to 2010.

BACKGROUND: Australian Aboriginal children have increased infant and childhood mortality compared with Caucasian children, but their mortality related to congenital heart defects (CHDs) throughout life is unknown. METHODS: We conducted a retrospective cohort study using data on 8,110 live born, singleton infants with CHDs born January 1980 to December 2010 from the Western Australian Register of Developmental Anomalies. Vital status was determined from death and medical records. Data for infants with chromosomal anomalies (except Down syndrome) were excluded. Kaplan-Meier Product-Limit estimates and 95% confidence intervals (CIs) were computed by Aboriginality. Hazard ratios (HRs) and 95% CIs were calculated from multivariable Cox-Proportional Hazard Regression models. RESULTS: Aboriginal children had lower survival than Caucasians for all CHDs combined but most notably during the neonatal period for functional single ventricle (50.0% vs. 86.1%; p = 0.015) and during the postneonatal period for tetralogy of Fallot (87.0% vs. 97.4%; p = 0.021) and atrioventricular septal defect (60.0% vs. 94.6%; p = 0.010). After adjusting for covariates except remoteness and socioeconomic status (SES), Aboriginal children with all CHDs combined (HR = 1.4; 95% CI, 1.0-1.9), with transposition of the great arteries (HR = 4.3; 95% CI, 1.0-18.9) or functional single ventricle (HR = 8.6; 95% CI, 1.3-57.9) had increased risk of mortality compared with Caucasian children. When remoteness and SES were included, the risks were not statistically significant. CONCLUSION: Long-term survival was lower for Aboriginal children with CHDs, and Aboriginal children with specific CHD phenotypes had increased risk of mortality throughout life. Increased risk may be due to SES and environmental factors. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. Birth Defects Research (Part A) 106:1016-1031, 2016. © 2016 Wiley Periodicals, Inc.

Transition to adulthood for young people with intellectual disability: the experiences of their families.

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

The increasing prevalence of reported diagnoses of childhood psychiatric disorders: a descriptive multinational comparison.

The objective of this study is to compare the time trend of reported diagnoses of autism spectrum disorder (ASD), hyperkinetic disorder, Tourette's syndrome, and obsessive-compulsive disorder across four countries after standardizing the study period, diagnostic codes used to define the conditions and statistical analyses across countries. We use a population-based cohort, including all live-born children in Denmark, Finland, Sweden and Western Australia, from January 1, 1990, through December 31, 2007 and followed through December 31, 2011. The main outcome measure is age-specific prevalence of diagnoses reported to population-based registry systems in each country. We observe an increase in age-specific prevalence for reported diagnoses of all four disorders across birth-year cohorts in Denmark, Finland, Sweden, and (for ASD) Western Australia. Our results highlight the increase in the last 20 years in the number of children and families in contact with health care systems for diagnosis and services for an array of childhood neuropsychiatric disorders, a phenomenon not limited to ASD. Also, the age of diagnosis of the studied disorders was often much higher than what is known of the typical age of onset of symptoms, and we observe limited leveling off in the incidence rate with increasing age.

Day occupation is associated with psychopathology for adolescents and young adults with Down syndrome.

BACKGROUND: Young adults with Down syndrome experience increased rates of emotional and behavioural problems compared with the general population. Most adolescents with Down syndrome living in Western Australia participate in sheltered employment as their main day occupation. Relationship between day occupation and changes in behaviour has not been examined. Therefore, the aim of this research was to explore any relationship between post school day occupations and changes in the young person's behaviour. METHODS: The Down syndrome Needs Opinion Wishes database was used for case ascertainment of young adults aged 15 to 32 years with Down syndrome. Families of 118 young people in this population-based database completed questionnaires in 2004, 2009 and 2011. The questionnaires addressed both young person characteristics such as age, gender, presence of impairments, behaviour, functioning in activities of daily living, and family characteristics such as income and family functioning. Post-school day occupations in which the young people were participating included open and sheltered employment, training and day recreation programs. Change in behaviour of young adults who remained in the same post-school day occupation from 2009 to 2011 (n = 103) were examined in a linear regression model adjusting for confounding variables including age, gender, prior functioning and behaviour in 2004 and family income. RESULTS: In comparison to those young adults attending open employment from 2009 to 2011, those attending day recreation programs were reported to experience worsening in behaviour both in the unadjusted (effect size -0.14, 95% CI -0.24, -0.05) and adjusted models (effect size -0.15, 95% CI -0.29, -0.01). CONCLUSIONS: We found that the behaviour of those participating in open employment improved compared to those attending other day occupations. Further examination of the direction of this association is required.

Relationship between family quality of life and day occupations of young people with Down syndrome.

PURPOSE: To explore relationships between family quality of life, day occupations and activities of daily living (ADL) of young persons with Down syndrome. METHOD: Data were collected from 150 families with a young person with Down syndrome aged 16-30 years participating in the Down syndrome "Needs Opinions Wishes" database. Data described the young person's characteristics (including functional abilities, behaviour and day occupations) and family characteristics (including income, family and community supports and quality of life). RESULTS: Compared to families of young people attending open employment, families of young people participating in sheltered employment tended to report poorer family quality of life, after adjusting for personal characteristics, behaviour and income (coeff -6.78, 95 % CI -14.38, 0.81). Family supports reduced this relationship (coeff -6.00, 95 % CI -12.76, 0.76). Families of young people with greater functioning in ADL reported better family quality of life regardless of personal and environmental factors (coeff 0.45, 95 % CI 0.05, 0.85) and inclusion of family factors such as family supports reduced this association (coeff 0.29, 95 % CI -0.10, 0.67). CONCLUSIONS: Participation of young people with Down syndrome in open employment may positively influence family quality of life. Services that facilitate functioning in ADL and assist the families in accessing suitable family supports have the potential to positively influence family quality of life.

Intellectual disability and autism prevalence in Western Australia: impact of the NDIS.

Introduction: Estimates of the prevalence of intellectual disability or autism spectrum disorder (ASD) may vary depending on the methodology, geographical location, and sources of ascertainment. The National Disability Insurance Scheme (NDIS) in Australia was introduced progressively from 2016 to provide individualized funding for eligible people with a significant and permanent disability. Methods: Its recent inclusion as a source of ascertainment in the population-based Intellectual Disability Exploring Answers (IDEA) database in Western Australia has allowed comparisons of the prevalence of intellectual disability and ASD before and after its introduction. Results: Prevalence of intellectual disability in 2020 was 22.5 per 1,000 (/1,000) live births compared with previous estimates in 2010 of 17/1,000, and for ASD, the estimate was 20.7/1,000 in 2020 compared with 5.1 /1,000 in 2010. Whilst the prevalence of ASD in Aboriginal individuals was about two-thirds that of non-Aboriginals, there was an increased prevalence of ASD in Aboriginal children under 10 years compared with non-Aboriginal children. Discussion: The concurrent relaxation of ASD diagnostic practice standards in Western Australia associated with the administration of access to the NDIS and the release of the National Guidelines empowering single diagnosticians to determine the appropriateness of engaging additional diagnosticians to form a multidisciplinary team on ASD diagnosis, appear to be important factors associated with the increase in ASD diagnoses both with and without intellectual disability.

Intellectual disability: population-based estimates of the proportion attributable to maternal alcohol use disorder during pregnancy.

AIM: The aim of this study was to examine the association between maternal alcohol use disorder and intellectual disability in children. METHOD: All mothers with an International Classification of Diseases (ICD) 9 and/or 10 alcohol-related diagnosis, a proxy for alcohol use disorder, recorded on the Western Australian health, mental health, and drug and alcohol data sets were identified through the Western Australian Data Linkage Unit (n=5614 non-Aboriginal; n=2912 Aboriginal). A comparison cohort of mothers without an alcohol-related diagnosis was frequency matched on maternal age within maternal Aboriginal status and year of birth of their children. Linkage with the Western Australian Midwives Notification System (1983-2001) identified all births to these mothers (n=10 664 and 7907 respectively). Linkage to the Western Australian Intellectual Disability Database and Register of Developmental Anomalies identified cases of intellectual disability with no identified genetic origin (intellectual disability) (n=1487) and fetal alcohol syndrome (n=66). Odds ratios (ORs) and 95% confidence intervals (CIs) for intellectual disability were calculated using logistic regression incorporating generalized estimating equations and used to estimate population-attributable fractions. RESULTS: At least 3.8% (95% CI 2.84-4.89%) of cases of intellectual disability could be avoided by preventing maternal alcohol use disorder: 1.3% (95% CI 0.81-1.86%) in non-Aboriginal and 15.6% (95% CI 10.85-20.94%) in Aboriginal children. We observed a three-fold increase in the adjusted odds of intellectual disability in children of mothers with an alcohol-related diagnosis recorded during pregnancy (non-Aboriginal OR 2.89, 95% CI 1.62-5.18; Aboriginal OR 3.12, 95% CI 2.13-4.56), with a net excess proportion of 3.7% and 5.5% respectively. One-third (32%) of children diagnosed with fetal alcohol syndrome had intellectual disability. INTERPRETATION: Maternal alcohol use disorder is the leading known risk factor for intellectual disability with no identified genetic origin.