Jenny Bourke

Introduction The IDEA system is a population-based data linkage system for intellectual disability (ID), which combines data from two government departments. Due to recent policy changes the future of the IDEA system is unknown. Understanding the IDEA system's strengths and limitations will provide data custodians with the opportunity to re-design the system. Objectives and Approach An evaluation of the IDEA surveillance system was undertaken to assess the quality, efficiency and usefulness of the system. The primary objectives were to evaluate systematically and objectively the attributes of the system and provide recommendations to data custodians and stakeholders to strengthen the surveillance system. The evaluation was based on the methods from the 2001 U.S. Centers for Disease Control and Prevention guidelines on evaluation of public health surveillance systems. We assessed the following system attributes: usefulness, simplicity, flexibility, data quality, acceptability, representativeness, timeliness, and stability. This was completed by process observation, semi-structured interviews and data analysis. ResultsOur results found the IDEA system was flexible, acceptable, representative, timely and stable. Given data linkage process and maintaining confidentiality the data linkage process was considered relatively simple. We compared individuals in the IDEA surveillance system to a sub-group of individuals, cerebral palsy with ID, to the mandatory reporting surveillance system WARDA-CP. There were 582 individuals identified in the WARDA-CP surveillance system as having cerebral palsy and ID. Of those identified 501 (86.1%) were also in the IDEA database and 81 (13.9%) were not. There were little differences in WARDA-CP cases that were not identified in the IDEA system between Indigenous status, sex and place of residence. Conclusion/Implications The IDEA system has successfully been used to understand prevalence rates and inform resource allocation. Advocacy organisations could play an important role in the sustainability of the system. Additional variables or enhanced surveillance for functional capacity could strengthen the system and provide important information to inform policy and practice.

IntroductionCongenital heart defects (CHD) are diagnosed up to age 6 in 8-12/1,000 births annually in Western Australia. Recent improvements in management of infants with CHDs has significantly increased survival; approximately 85\% of infants with CHDs live beyond childhood. However, children with CHDs may have increased risk of life-long intellectual disabilities. Objectives and ApproachWe conducted a study of 20,997 children to determine risk of intellectual disability (ID). All singleton, live born infants with CHDs born 1983-2010 were identified from the Western Australian Register for Developmental Anomalies, a statewide birth defects registry (n=6,968). Infants without CHDs born 1983-2010 were randomly selected from birth records (n=14,029). All data were linked to the Western Australia Midwives Notification System to obtain maternal and infant information. Children with ID were identified by linkage to the statewide Intellectual Disability Exploring Answers database. Risk ratios (RR) and 95% confidence intervals (CI) were calculated from multivariable logistic regression analyses. ResultsOf 20,997 children, 965 (4.6%) had an ID; 1.3% of children without CHDs and 11.2% of children with CHDs had an ID (P

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.

Summary: This study used population‐based databases to ascertain birth defects and intellectual disability (ID), defined as full IQ < 70, in children born in Western Australia during 1980–99. Of the children surviving to 1 year (n = 474 285), 4.9% had birth defects and 1.3% ID. ID was identified in 7.9% of children with birth defects. After adjusting for sex, mother’s age, race, parity, plurality, birthweight and gestational age the prevalence ratio (PR) [95% confidence interval (CI)] for ID in children with birth defects compared with those with no birth defects was 7.6 [7.2, 8.0]. Those with chromosomal anomalies comprised 3.2% of the group with birth defects. The percentage ID (and PR [95% CI]) in specific categories were: Down’s syndrome 97% (84.5 [79.4, 90.0]), sex chromosome anomalies 30.3% (31.0 [23.8, 40.3]), other chromosomal anomalies 64.2% (54.2 [47.2, 62.3]). Birth defects were categorised according to system in the 96.8% of children with non‐chromosomal anomalies. The percentage with ID (and PR [95% CI]) for birth defects in each system were: spina bifida 18.8 (16.7 [12.2, 23.0]); nervous (except spina bifida) 38.6 (33.4 [30.3, 36.9]); cardiovascular 4.2 (4.1 [3.5, 4.8]); gastro‐intestinal 2.2 (2.0 [1.5, 2.7]); urogenital 2.6 (2.4 [2.0, 2.8]; musculo‐skeletal 3.6 (4.0 [3.5, 4.6]); other non‐chromosomal 7.0 (7.3 [6.5, 8.3]); and multiple systems 12.3 (10.2 [8.6, 12.2]).Birth defects were present in 30.2% of children with ID (27.7% of children with mild/moderate ID (IQ 40–69) and 54% of children with severe ID (IQ < 40)). Adjusted PRs for birth defects in children with any ID, mild/moderate ID and severe ID compared with children with normal intellectual function were 6.0 [5.8, 6.3], 5.5 [5.3, 5.8] and 10.5 [9.7, 11.4] respectively. The data are useful for those providing services for children with developmental disabilities especially for predicting family support and respite and accommodation requirements for children and adults with severe ID.

Summary: Many studies documenting the decline in all‐cause infant mortality rates over the past 20 years have highlighted the contribution of birth defects. Over this time there has also been an increasing number of terminations of pregnancy for fetal abnormality. However, the effect of these terminations on mortality rates in Australia has not yet been estimated. The Western Australian Birth Defects Registry (BDR) records all birth defects that are diagnosed in stillbirths, livebirths and in pregnancies terminated because of a fetal abnormality. All cases on the BDR over the period 1980–98 were categorised into one of eight main birth defect groups and analysed in four time periods to show trends. Linkage provided information on deaths to one year of age, defined as perinatal plus postneonatal deaths. The proportion of terminations for fetal abnormality that would have resulted in a death before one year of age was estimated in two ways. The first method used the proportion of births with a birth defect in each diagnostic category that resulted in a death. The second method involved determination of likelihood of survival to one year of all terminations for fetal abnormality through independent review by two experts. Whilst mortality to one year of age for all birth defects has declined from 4.36/1000 births in 1980–84 to 2.75/1000 births in 1995–98, terminations of pregnancies for fetal abnormalities increased from 1.19/1000 births to 4.70/1000 births. After including the estimated mortality associated with terminations for fetal abnormality, the decline in mortality to one year of age associated with birth defects from 1980 to 1998 changed from a 37% reduction to a 15% reduction based on observed mortality 1980–84, and an 11% increase in mortality based on individual case review, highlighting the importance of considering terminations in mortality analyses.