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Aim: The aim of this study was to compare hospital admissions from infancy to adulthood, between children born with orofacial clefts (OFC) and those without OFC.Methods: The method used was a cohort study using record-linked administrative datasets. Participants included all children liveborn in Western Australia (WA) between 1980 and 2010 diagnosed with OFC, who were frequency matched by year of birth to randomly selected liveborn children without OFC. We calculated rate ratios (RR) of hospital admission, number and reason of admissions, cumulative length of stay, for each cleft type (cleft lip only (CLO), cleft lip and palate (CL+P), cleft palate only (CPO), no OFC) and by age period (infancy, pre-school, primary and high school ages, and early adulthood).Results: Overall, 1396 children were diagnosed with an OFC and compared with 6566 children without OFC. Individuals born with OFC were up to three times more likely to be admitted to hospital, had more admissions and longer cumulative length of stay in all age periods. Children with OFC were also more likely to be admitted for ear and digestive system conditions (RR up to 30 and six times higher, respectively). Children with CL+P and CPO were more likely to be admitted for respiratory conditions (RR 1.3-2.0) and children with CPO were six times more likely to be admitted for care for other congenital anomalies.Conclusions: Throughout childhood, individuals born with OFC were more likely to be admitted, and had more hospitalisations than those without OFC. Children born with CL+P or CPO had a higher hospitalisation burden than children born with CLO. [ABSTRACT FROM AUTHOR]

Aim: A recent international study reported a higher prevalence of oesophageal atresia with or without tracheo-oesophageal fistula (OA±TOF) in Western Australia (WA). The aim of this study was to examine the prevalence and trends of OA and/or TOF in WA, determine the proportion of cases with associated anomalies and explore the impact of time of diagnosis.Methods: The study population comprised all infants born in WA, 1980-2009, and registered with OA and/or TOF on the WA Register of Developmental Anomalies (WARDA).Results: OA±TOF and TOF alone affect, on average, one in every 2927 births in WA, with a total prevalence of 3.00 and 0.42 per 10 000 births, respectively. The prevalence of OA±TOF increased by 2.0% per annum, with only cases with associated anomalies (64% of cases) demonstrating an increase. TOF rates were stable. Among OA±TOF infants, the proportion of live births, stillbirths and elective terminations of pregnancy for fetal anomaly (TOPFA) was 79%, 6% and 15%, respectively, whereas the majority (94%) of TOF only cases were live births. In 2000-2009, there was 30% fall in OA±TOF live births with 61 (58%) cases diagnosed in first week of life, 10 (9%) prenatally and 34 (32%) at post-mortem only.Conclusions: A higher prevalence of OA±TOF in WA was observed with increase over time attributable to increase with associated anomalies. Consistent reporting, availability of prenatal diagnosis and ascertainment of cases following TOPFA or post-mortem examinations can significantly affect prevalence of OA and/or TOF. [ABSTRACT FROM AUTHOR]

The article discusses the foetal alcohol spectrum disorder (FASD) diagnosis which is stated to be a complex neurodevelopmental disorder which is caused due to prenatal alcohol exposure (PAE). The article reports development of the diagnostic instrument by Australia to conduct feasibility trials. Topics include e-learning modules, multidisciplinary and developmental assessment.

Aim Aboriginal leaders concerned about high rates of alcohol use in pregnancy invited researchers to determine the prevalence of fetal alcohol syndrome ( FAS) and partial fetal alcohol syndrome ( pFAS) in their communities. Methods Population-based prevalence study using active case ascertainment in children born in 2002/2003 and living in the Fitzroy Valley, in Western Australia ( April 2010- November 2011) ( n = 134). Socio-demographic and antenatal data, including alcohol use in pregnancy, were collected by interview with 127/134 (95%) consenting parents/care givers. Maternal/child medical records were reviewed. Interdisciplinary assessments were conducted for 108/134 (81%) children. FAS/pFAS prevalence was determined using modified Canadian diagnostic guidelines. Results In 127 pregnancies, alcohol was used in 55%. FAS or pFAS was diagnosed in 13/108 children, a prevalence of 120 per 1000 (95% confidence interval 70-196). Prenatal alcohol exposure was confirmed for all children with FAS/pFAS, 80% in the first trimester and 50% throughout pregnancy. Ten of 13 mothers had Alcohol Use Disorders Identification Test scores and all drank at a high-risk level. Of children with FAS/pFAS, 69% had microcephaly, 85% had weight deficiency and all had facial dysmorphology and central nervous system abnormality/impairment in three to eight domains. Conclusions The population prevalence of FAS/pFAS in remote Aboriginal communities of the Fitzroy Valley is the highest reported in Australia and similar to that reported in high-risk populations internationally. Results are likely to be generalisable to other age groups in the Fitzroy Valley and other remote Australian communities with high-risk alcohol use during pregnancy. Prevention of FAS/pFAS is an urgent public health challenge. [ABSTRACT FROM AUTHOR]

Aim There is increasing attention on fetal alcohol spectrum disorders ( FASD) in Australia, but there are limited data on their birth prevalence. Our aim was to report on the birth prevalence of FASD in Western Australia. Methods Data on notified cases of FASD born in Western Australia 1980-2010 were identified from the Western Australian Register of Developmental Anomalies. Tabulated denominator data were obtained from the Midwives Notification System. Prevalence rates per 1000 births were calculated by demographic variables. Prevalence ratios ( PRs) and 95% confidence intervals ( CIs) of Aboriginal compared with non-Aboriginal prevalence rates were calculated. PRs were also calculated to compare rates for births 2000-2010 with 1980-1989. Results Two hundred ten cases of FASDs were identified: a birth prevalence of 0.26/1000 births (95% CI 0.23-0.30). The majority of cases reported were Aboriginal (89.5%), a rate of 4.08/1000, compared with 0.03/1000 in notified non- Aboriginal cases, giving a PR of 139 (95% CI 89-215). The prevalence of FASD in 2000-2010 was over twice that in 1980-1989 for both Aboriginal ( PR 2.37; CI 1.60-3.51) and non- Aboriginal ( PR 2.13; CI 0.68-6.69) children. Conclusions There has been a twofold increase in FASD notifications in Western Australia over the last 30 years. Population surveillance data such as these are valuable in advocating for and monitoring the effectiveness of preventive activities and diagnostic and management services. [ABSTRACT FROM AUTHOR]

Aim: To evaluate the incidence, sex distribution, ethnicity, age at diagnosis, clinical presentation and morbidity of all childhood-onset congenital adrenal hyperplasia (CAH) cases in Western Australia (WA) between 1990 and 2010, a state where newborn screening for CAH is not in place. Methods: The total number of all known CAH cases was identified. Case files were reviewed retrospectively to determine clinical details. Classical CAH (C-CAH) was defined as patients presenting before 6 months of age and non-classical (NC-CAH) as presenting after 6 months. Results: Of the 41 CAH cases (26 female) born in WA, 5(12.2%) were of Aboriginal ethnicity. CAH was due to 21-hydroxylase deficiency in 40 cases. Of those with 21-hydroxylase deficiency, 37 were C-CAH (25 female) and 3 NC-CAH (all male). The incidence of C-CAH in WA was estimated to be 0.67 per 10 000 live births (1:14 869). The incidence rate ratio of Aboriginal compared with non-Aboriginal C-CAH was 2.45 (95% confidence interval 0.96-6.29). The mean age of diagnosis of C-CAH cases was lower in females (8.9 ± 2.5 days) compared to males (23.4 ± 9.8 days). Among these males, 72.7% presented initially with adrenal crisis. Conclusion: The estimated incidence of classical CAH is similar to composite worldwide data. The increased female-to-male ratio is not in keeping with the expected sex distribution seen in a recessively inherited disease. The delayed diagnosis in males, with a significant proportion presenting with adrenal crisis, could be avoided with newborn screening. The higher rate of CAH in patients with Aboriginal ethnicity is a novel observation. [ABSTRACT FROM AUTHOR]

Aim: The study aims to provide paediatricians in Western Australia (WA) with educational resources () about the prevention of prenatal alcohol exposure and fetal alcohol spectrum disorder, and assess changes in their knowledge, attitudes and practice about fetal alcohol syndrome (FAS) and alcohol consumption in pregnancy. Methods: Following our 2004 survey of paediatricians, we developed and distributed educational resources to 159 paediatricians in WA in 2007. Six months later, we surveyed these paediatricians and compared their responses with results from 2004 using prevalence rate ratios (PRRs) and 95% confidence intervals (CIs). Results: Of 133 eligible paediatricians, 82 (61.7%) responded: 65.9% had seen the resources, of these 66.7% had used them and 29.6% said the resources had helped them change, or influenced their intent to change, their practice. There was no change in the proportion that knew all the essential features of FAS (18.3% in 2007; 20.0% in 2004) or had diagnosed FAS (58.5% in 2007; 58.9% in 2004). An increased proportion (75.6% in 2007; 48.9% in 2004) agreed that pregnant women should completely abstain from consuming alcohol (PRR 1.55, 95% CI 1.21-1.97). Only 21.7% (no increase from 2004) routinely asked about alcohol use when taking a pregnancy history. Conclusions: We recommend that asking about alcohol use during pregnancy should be emphasised in paediatric training. Unless paediatricians' capacity to ask about alcohol consumption when taking a pregnancy history and to diagnose FAS is increased, FAS will remain under-diagnosed in Australia and opportunities for management, early intervention and prevention will be overlooked. [ABSTRACT FROM AUTHOR]

The Australian Paediatric Surveillance Unit (APSU) facilitates the conduct of national collaborative research that is consistent with national health priorities, has potential to impact on public health, and addresses gaps in knowledge. Since 1993 paediatricians and other child health specialists have contributed monthly data on rare childhood conditions to the APSU. Over 40 conditions, including infectious diseases, injuries, vaccine-preventable diseases and genetic disorders have been studied. Information on epidemiology, frequency, diagnosis, management and short-term outcomes of these conditions is collected and provides evidence to support changes to clinical practice, prevention policy and allocation of health resources. In this review we give examples of the value of information gathered through the APSU surveillance system in the last 14 years. [ABSTRACT FROM AUTHOR]

Aim: To measure paediatricians’ knowledge, attitudes and practices regarding foetal alcohol syndrome (FAS) and alcohol use during pregnancy. Methods: Postal survey of paediatricians in Western Australia in 2004. Of 179 eligible paediatricians, 132 (73.7%) responded (90 consultant paediatricians and 42 paediatric trainees). Results: Of the 132 respondents, 18.9% identified all four essential diagnostic features for FAS. Only 49.2% had previously diagnosed FAS (range 1–30 cases) but 91.7% had seen children diagnosed by others; 76.5% had suspected but not diagnosed FAS; 12.1% had been convinced of but not recorded the diagnosis; and 31.8% had referred children for diagnostic confirmation. Although 79.6% agreed early diagnosis might be advantageous, 69.6% said diagnosis might be stigmatising and 36.4% thought parents might resist referral for assessment and treatment. Although 78.2% agreed avoiding binge drinking may reduce FAS, only 43.9% believed women should abstain from using alcohol in pregnancy. Only 4.5% felt very prepared to deal with a patient with FAS: most wanted educational materials for themselves (69.7%) and child carers (71.2%). Only 23.3% routinely ask about alcohol use when taking a pregnancy history and 4.2% routinely provide information on the consequences of alcohol use. Only 11.4% had read the current Australian national health guideline regarding alcohol consumption in pregnancy and 9.1% provided advice consistent with the guideline. Conclusion: Paediatricians identified the need for educational materials about FAS and alcohol use in pregnancy for themselves and their clients. Lack of knowledge about FAS diagnosis and management will limit opportunities for diagnosis, prevention and early intervention. [ABSTRACT FROM AUTHOR]

The author focuses on the Commonwealth grant awarded to Jane Seward and Fiona Stanley to establish a birth defects register in Western Australia. The study confirms that the risk of neural tube defects is reduced by around 70% through adequate maternal folate intake before and in early pregnancy. The author adds that the importance of the foresight of Stanley in establishing a birth defects register in the country is exemplified by the work on folate and neural tube defects.

Alcohol exposure in pregnancy can induce a broad range of physical and developmental defects in the child, collectively known as foetal alcohol spectrum disorders (FASD). In Australia, there are proven gaps in our knowledge and practice for recognising and diagnosing FASD. The challenge for the Australian health professional is agreeing on a model for diagnosing and treating FASD. The diagnostic method must be evidence based, sensitive and specific, and account for other exposures during pregnancy and early life events. Training in application of the diagnostic method needs to be readily available in metropolitan and regional Australia. The University of Washington FASD 4-digit diagnostic code fulfils all of these best practice criteria, recommending itself as the method of choice. [ABSTRACT FROM AUTHOR]

Objective: To investigate the prevalence of intellectual disability in Western Australia (WA), its causes, prevention, and trends over time.Methodology: Data from an administrative database of intellectual disability in WA were used to report on the trends in intellectual disability in childhood.Results: The prevalence of intellectual disability was 8.3 per 1000 live births in 1980-90. For half the cases, there was no known cause for the intellectual disability. Down syndrome accounted for 14 to 15% of all cases. Since the introduction of newborn screening, no WA-born child participating in the screening program has been diagnosed with intellectual disability as a result of either phenylketonuria or congenital hypothyroidism. The rate of autism spectrum disorders rose from three to six per 10 000 in the 1980-83 WA birth cohort to 10-13 per 10 000 for the 1989-92 cohort.Conclusions: Recent linkage of this administrative database to the WA Maternal and Child Health Research Data Base provides a unique opportunity for more detailed investigation of intellectual disability and its risk factors in a large, well-ascertained population of children. [ABSTRACT FROM AUTHOR]