| 1. |
- Leoncini, Emanuele, et al.
(författare)
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Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems : Searching for population variations.
- 2008
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Ingår i: Birth defects research. Clinical and molecular teratology. - : Wiley. - 1542-0752 .- 1542-0760. ; 82:8, s. 585-591
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Holoprosencephaly (HPE) is a developmental field defect of the brain that results in incomplete separation of the cerebral hemispheres that includes less severe phenotypes, such as arhinencephaly and single median rnaxillary central incisor. Information on the epidemiology of HPE is limited, both because few population-based studies have been reported, and because small Studies must observe a greater number of years in order to accumulate sufficient numbers of births for a reliable estimate. METHODS: We collected data from 2000 through 2004 from 24 of the 46 Birth Defects Registry Members of the International Clearinghouse for Birth Defects Surveillance and Research. This Study is based on more than 7 million births in various areas from North and South America, Europe, and Australia. RESULTS: A total of 963 HPE cases were registered, yielding an overall prevalence of 1.31 per 10,000 births. Because the estimate was heterogeneous, possible causes of variations among populations were analyzed: random variation, Under-reporting and over-reporting bias, variation in proportion of termination of pregnancies among all registered cases and real differences among populations. CONCLUSIONS: The data do not suggest large differences in total prevalence of HPE among the studied Populations that would be useful to generate etiological hypotheses.
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| 2. |
- Leoncini, Emanuele, et al.
(författare)
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How Valid Are the Rates of Down Syndrome Internationally? : Findings from the International Clearinghouse for Birth Defects Surveillance and Research
- 2010
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Ingår i: American Journal of Medical Genetics, Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 152A:7, s. 1670-1680
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Tidskriftsartikel (refereegranskat)abstract
- Rates of Down syndrome (DS) show considerable international variation, but a systematic assessment of this variation is lacking. The goal of this study was to develop and test a method to assess the validity of DS rates in surveillance programs, as an indicator of quality of ascertainment. The proposed method compares the observed number of cases with DS (livebirths plus elective pregnancy terminations, adjusted for spontaneous fetal losses that would have occurred if the pregnancy had been allowed to continue) in each single year of maternal age, with the expected number of cases based on the best-published data on rates by year of maternal age. To test this method we used data from birth years 2000 to 2005 from 32 surveillance programs of the International Clearinghouse for Birth Defects Surveillance and Research. We computed the adjusted observed versus expected ratio (aOE) of DS birth prevalence among women 25-44 years old. The aOE ratio was close to unity in 13 programs (the 95% confidence interval included 1), above 1 in 2 programs and below 1 in 18 programs (P < 0.05). These findings suggest that DS rates internationally can be evaluated simply and systematically, and underscores how adjusting for spontaneous fetal loss is crucial and feasible. The aOE ratio can help better interpret and compare the reported rates, measure the degree of under- or over-registration, and promote quality improvement in surveillance programs that will ultimately provide better data for research, service planning, and public health programs.
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| 3. |
- Mishra, Gita D., et al.
(författare)
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MatCH (Mothers and their Children's Health) Profile : Offspring of the 1973-78 Cohort of the Australian Longitudinal Study on Women's Health
- 2018
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Ingår i: Longitudinal and Life Course Studies. - : Bristol University Press. - 1757-9597. ; 9:3, s. 351-375
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Tidskriftsartikel (refereegranskat)abstract
- MatCH (Mothers and their Children's Health) is a nationwide Australian study to investigate the links between the history of health, wellbeing and living conditions of mothers and the health and development of their children. MatCH builds on the Australian Longitudinal Study on Women's Health (ALSWH), which began in 1996 and has surveyed more than 58,000 women in four nationally representative age cohorts. MatCH focuses on the three youngest offspring of the cohort of ALSWH participants randomly sampled from all women in Australia born in 1973-78 (N=5780 children of N=3039 mothers). These women, who had completed up to seven postal or online surveys since 1996, were invited in 2016-17 to complete surveys about the health and development of their three youngest children aged under 13. The mothers reported on their children's health conditions and symptoms, diet, anthropometric measures, childcare, screen time, physical activity, temperament, behaviour, language development, motor development and health service utilisation, as well as household and environmental factors. These data are being linked with each child's records from official sources including the Australian Early Development Census (collected at age five to six), the National Assessment Program-Literacy and Numeracy (collected at age eight, 10, 12 and 14) and other external datasets. MatCH will combine 20 years of maternal data with all the information on her children, taking into account the family setting. MatCH offers an unprecedented opportunity to advance our understanding of the relationship between maternal health and wellbeing and child health and development.
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| 4. |
- Morgan, Vera A., et al.
(författare)
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Intellectual disability and other neuropsychiatric outcomes in high-risk children of mothers with schizophrenia, bipolar disorder and unipolar major depression
- 2012
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Ingår i: British Journal of Psychiatry. - : Royal College of Psychiatrists. - 0007-1250 .- 1472-1465. ; 200:4, s. 282-289
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Tidskriftsartikel (refereegranskat)abstract
- Background Recent evidence points to partially shared genetics of neuropsychiatric disorders. Aims We examined risk of intellectual disability and other neuropsychiatric outcomes in 3174 children of mothers with schizophrenia, bipolar disorder or unipolar major depression compared with 3129 children of unaffected mothers. Method We used record linkage across Western Australian population-based registers. The contribution of obstetric factors to risk of intellectual disability was assessed. Results Children were at significantly increased risk of intellectual disability with odds ratios (ORs) of 3.2 (95% Cl 1.8-5.7), 3.1 (95% Cl 1.9-4.9) and 2.9 (95% Cl 1.8-4.7) in the maternal schizophrenia, bipolar disorder and unipolar depression groups respectively. Multivariate analysis suggests familial and obstetric factors may contribute independently to the risk. Although summated labour/delivery complications (OR= 1.4, 95% CI 1.0-2.0) just failed to reach significance, neonatal encephalopathy (OR = 7.7, 95% Cl 3.0-20.2) and fetal distress (OR= 1.8, 95% Cl 1.1-2.7) were independent significant predictors. Rates of rare syndromes in children of mothers with mental disorder were well above population rates. Risk of pervasive developmental disorders, including autism, was significantly elevated for children of mothers with bipolar disorder. Risk of epilepsy was doubled for children of mothers with unipolar depression. Conclusions Our findings provide epidemiological support for clustering of neuropsychiatric disorders. Further larger epidemiological studies are warranted.
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