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Objective: To assess the direct annual health care costs for children and adolescents with Down syndrome in Western Australia and to explore the variation in health care use including respite, according to age and disease profile. Study design: Population-based data were derived from a cross-sectional questionnaire that was distributed to all families who had a child with Down syndrome as old as 25 years of age in Western Australia. Results: Seventy-three percent of families (363/500) responded to the survey. Mean annual cost was $4209 Australian dollars ($4287 US dollars) for direct health care including hospital, medical, pharmaceutical, respite and therapy, with a median cost of $1701. Overall, costs decreased with age. The decline in costs was a result of decreasing use of hospital, medical, and therapy costs with age. Conversely, respite increased with age and also with dependency. Health care costs were greater in all age groups with increasing dependency and for an earlier or current diagnosis of congenital heart disease. Annual health care costs did not vary with parental income, including cost of respite. Conclusions: Direct health care costs for children with Down syndrome decrease with age to approximate population costs, although costs of respite show an increasing trend. [Copyright &y& Elsevier]

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. [ABSTRACT FROM AUTHOR]

Objective: To identify the relationship between characteristics of the child with Down syndrome and the health of their mother. Study design: Families with a child/young adult with Down syndrome (<25 years) provided information related to the health of the child, functioning and behavior, and the health and well-being of the mother (n = 250). Results: The mean physical health score of mothers was 50.2 (SD = 9.6). Factors associated with lower mean physical health scores were as follows: child having a current heart problem (P = .036), a higher body mass index (P = .006), and higher (poorer) scores on the Developmental Behavior Checklist. Better physical health scores were seen in mothers whose children required no help/supervision in learning new skills (P = .008) and domestic tasks (P = .014). The mean mental health score of mothers was 45.2 (SD = 10.6), significantly lower than the norm of 50 (P < .0001). Associated child factors included current ear problems (P = .079), muscle/bone problems (P = .004), >4 episodes of illness in past year (P = .016), and higher scores on the DBC (P < .0001). Conclusions: The most important predictors of maternal health were children''s behavioral difficulties, everyday functioning and current health status. Mothers of children with Down syndrome appear to experience poorer mental health and may require greater support and services to improve behavior management skills for their child and their own psychological well-being. [Copyright &y& Elsevier]

Objectives: To investigate risk factors for seizure onset in Rett syndrome. Study design: Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian Rett Syndrome Database. Cox and Weibull regression were used to investigate and provide a model for predicting the effects of genetic and developmental factors on age at seizure onset. Results: Seizures were reported in 81% of 275 cases; the median age of onset was 48 months. Not having gained the ability to walk (P = .003) and developmental problems in the first 10 months of age (P = .04) were associated with an almost 2-fold increased risk of seizures. Cases without a detectable MECP2 mutation had a higher risk of seizure onset up to 4 years of age (P < .001) but a lower risk after 4 years (P = .08). Conclusions: Seizure onset in Rett syndrome is associated with early developmental factors and with genotype. Information on these factors can be used to predict age at seizure onset after diagnosis. [Copyright &y& Elsevier]

Objective: To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT). Study design: The Australian Rett Syndrome Database is a longitudinal data collection that included 276 verified female cases at the end of 2004. Survival was calculated using the Kaplan-Meier product limit method, and cumulative incidence was determined using the complement of the Kaplan-Meier method. Results: Most cases (88.4%) have had MECP2 mutation testing, with positive results in 73%. The prevalence of RTT was .88 per 10,000 females in 5- to 18-year-olds, and the cumulative incidence was 1.09 per 10,000 females by 12 years of age. The cumulative incidence by the age of 5 years increased from .39 per 10,000 in the 1980 to 1984 cohort to .76 per 10,000 in birth cohorts beyond 1984. Survival was 77.8% at 25 years, compared with 99.96% survival in the Australian female population. Pneumonia (10/25) was the most common cause of death. Conclusions: The availability of genetic testing has contributed to the changing pattern and timing of RTT diagnosis in Australia. Girls with RTT have worse survival compared with the general female population. When more data are available, it will be possible to evaluate the relationship between survival and specific MECP2 mutations. [Copyright &y& Elsevier]

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

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

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. [ABSTRACT FROM AUTHOR]

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

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

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Objectives: To compare the prevalence of parent reported medical conditions and rates of health service utilization in school-aged children with Down syndrome in Western Australia in 1997 and 2004. Study design: We compared two cross-sectional surveys completed by parents of children with Down syndrome identified from population-based sources in 1997 (n = 210) and 2004 (n = 208). Surveys collected information on family demographics, medical conditions, health issues, and service utilization. The analysis described medical conditions in 2004 and compared frequencies in both years. Regression analyses compared medical conditions and health utilisation in the two cohorts. Results: In 2004, children with Down syndrome had greater odds of having a bowel condition (OR, 1.69; 95%, 1.16 to 2.45; P = .01), were less likely to have a current problem due to their cardiac condition (OR, 0.32; 95% CI, 0.15 to 0.68, P = .003), and demonstrated an overall reduction in episodic illnesses and infections. The use of GP services (incidence rate ratio [IRR] = 0.91; 95% CI, 0.83 to 1.00, P = .05) and combined medical specialist visits (IRR = 0.92; 95% CI, 0.84 to 1.01; P = .09) were reduced in 2004, as were overnight hospital admissions (IRR = 0.60; 95% CI, 0.37 to 0.96; P = .03) and length of stay (IRR = 0.33; 95% CI, 0.24 to 0.44; P < .001). Conclusions: The health status of children with Down syndrome has varied over time with reductions in current cardiac problems, episodic illnesses, and health service use. Research is now needed to investigate the impact of these changes on the overall health and quality of life of children and families living with Down syndrome. [ABSTRACT FROM AUTHOR]