A genetic‐diagnostic survey in an institutionalized population of 158 mentally retarded patients. The Viaene experience

Dereymaeker, A. M.; Fryns, Jean‐Pierre; Haegeman, J.; Deroover, J.; Berghe, Herman Van den

doi:10.1111/j.1399-0004.1988.tb02848.x

Cited by 17 publications

(4 citation statements)

References 25 publications

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“…These findings are in accordance with the data of Kaveggia et al (1975), Fryns et al (1986), Dereymaeker et al (1988), but much higher than the findings in Laxova et al (1977) and Gustavson et al (1977). The wide range of prevalence rates of etiological causes in different surveys cannot be entirely explained by different methodological approaches and the diversity of scope of the surveys.…”

Section: Discussionsupporting

confidence: 92%

“…The frequency of monogenic disorders in diagnostic-genetic surveys from Western countries (Table 5) ranges between 5% (Gustavson et al 1977) and 22.8% (Dereymaeker et al 1988). In the present study, 34.25% showed different mendelizing gene disorders, with 22.5% having an autosomal recessive mode of inheritance.…”

Section: Discussionmentioning

confidence: 99%

“…Many diagnostic genetic surveys of mentally retarded populations have been published (Penrose 1938, Freytag & Lindenberg 1967, Moser & Wolf 1971, Holmes et al 1972, Newton et al 1972a& b, Dupont 1975, Kaveggia et al 1975, Speed et al 1976, Sutherland et al 1976, Becker et al 1977, Gustavson et a]. 1977a& b, Laxova et al 1977, Opitz 1977, Hunter et al 1980, Jacobs et al 1978, Moghe et al 1981, Ambani et al 1984, Fryns et al 1986, Dereymaeker et al 1988, English et al 1989, Janson et al 1990, Volcke et al 1990, Haspeslagh et al 1991, Temtamy et al 1991, Butler & Singh 1993. In this paper, we report the etiological profile of a population of 400 institutionalized mentally retarded patients in Kuwait, with the aim of improving genetic counselling.…”

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confidence: 99%

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Disease profile of 400 institutionalized mentally retarded patients in Kuwait

et al. 1993

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Farag TI, Al‐Awadi SA, El‐Badramary MH, Aref MA, Kasrawi B, Krishna Murthy DS, El‐Khalifa MY, Yadav G, Marafie MJ, Bastaki L, Wahba RA, Mohammed FM, Abul Hasan S, Redha AA, Redha MA, Al‐aboud H, Al‐Hijji S, Al‐Dighashem D, Al‐Hashash N, Al‐Jeeryan L, Al‐Khor‐afi H, Qurban EA, Al‐Sulaiman I. Disease profile of 400 institutionalized mentally retarded patients in Kuwait. Clin Genet 1993: 44: 329–334. © Munksgaard, 1993 In this preliminary report we summarize the results of a 4‐year multidisciplinary systematic, etiological clinicogenetic survey of 400 institutionalized mentally retarded patients in Kuwait. All had an intelligence quotient below 50. A constitutional disorder, as the direct cause of the mental retardation, was found in 203 patients (50.75%)): a chromosomal abnormality in 37 (9.25%), Mendelian disorders in 137 (34.25%), MCA/MR in 22 (5.55%) and CNS malformations in 7 cases (1.75%). In 157 patients (39.35%) a pre‐, peri or postnatal cause was ascertained. No etiological diagnosis was detected in 40 patients (10%). A detailed analysis of the “disease profile” is given and compared with the results of previous diagnostic genetic surveys among different institutionalized mentally retarded populations in Western and developing countries.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

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Disease profile of 400 institutionalized mentally retarded patients in Kuwait

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“…genetic syndromes, exposure to noxious agents, congenital brain anomalies. [35][36][37][38] However, normal development in the first year of life does not imply normal development later in life. 39 …”

Section: Discussionmentioning

confidence: 99%

Safety of vaccination against influenza A (H1N1) during pregnancy in the Netherlands: results on pregnancy outcomes and infant's health: cross‐sectional linkage study

Maas

Dijs-Elsinga

Kemmeren

et al. 2015

BJOG

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Objective This study aims to assess the safety of Influenza A(H1N1), vaccination administered during the second and third trimester and containing MF59 and thiomersal (Focetria â ), measured by pregnancy outcomes and infant's health.Design Cross-sectional linkage study.Setting and sample A sample of pregnant women, eligible for prenatal screening, were invited to participate.Methods Questionnaire data were linked with the Netherlands Perinatal Registry (n = 1920). Information on infant growth, development (n = 1739) and infection-related contacts with the general practitioner (GP) during the first year of life (n = 1671) was obtained.Main outcome measures Multivariate logistic regression was used to assess the association between H1N1 vaccination and small-forgestational-age infant, preterm delivery and a composite adverse outcome, i.e. low Apgar-score, neonatal intensive care unit admission, neonatal resuscitation or perinatal death. Influence of maternal vaccination on growth, development and GP infectionrelated contact rates were assessed using multivariate linear mixed modelling and multivariate negative binomial regression, respectively.Results Response rate was 21%. Though we found differences in characteristics between unvaccinated and vaccinated women, in the multivariate analyses no association was found between H1N1 vaccination and small-for-gestational-age (odds ratio [OR] 0.84; 95% confidence interval [95% CI] 0.50-1.43), preterm delivery (OR 0.98; 95% CI 0.59-1.62) and the composite adverse outcome (OR 0.84; 95% CI 0.44-1.60). We found no differences in weight-for-age (À0.05; 95% CI À0.13 to 0.04), length-for-age (À0.01; 95% CI À0.09 to 0.06), head-circumference-for-age (À0.05; 95% CI À0.13 to 0.03), developmental scores (À0.06; 95% CI À0.28 to 0.17) and infection-related GP contact rates (incidence rate ratio 1.07; 95% CI 0.91-1.28) between infants of unvaccinated and vaccinated mothers.Conclusion Pregnancy outcomes did not differ between H1N1-vaccinated and unvaccinated women. Furthermore, growth, development and GP infection-related contact rates, assessed after the first year of life, were similar in offspring of vaccinated and unvaccinated mothers.Keywords Infant, influenza, pregnancy, safety, vaccination.Tweetable abstract No increased risk for adverse pregnancy outcomes and infant's health following influenza vaccination.Please cite this paper as: van der Maas N, Dijs-Elsinga J, Kemmeren J, van Lier A, Knol M, de Melker H. Safety of vaccination against influenza A (H1N1) during pregnancy in the Netherlands: results on pregnancy outcomes and infant's health: cross-sectional linkage study. BJOG 2016;123:709-717. IntroductionIn spring 2009 an influenza A (H1N1) pandemic occurred. Influenza during pregnancy increases the risk of hospitalisation due to respiratory complications, especially for women with co-morbidity.1-3 Furthermore, during the 2009 pandemic, an increased risk of adverse pregnancy outcomes after infection was reported.4-6 Therefore, the Dutch Health Council advised all pregnant wo...

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Bibliography on X‐linked mental retardation, the fragile X, and related subjects V (1991)

Spano

Opitz

1991

Am. J. Med. Genet.

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A genetic‐diagnostic survey in an institutionalized population of 158 mentally retarded patients. The Viaene experience

Cited by 17 publications

References 25 publications

Disease profile of 400 institutionalized mentally retarded patients in Kuwait

Disease profile of 400 institutionalized mentally retarded patients in Kuwait

Safety of vaccination against influenza A (H1N1) during pregnancy in the Netherlands: results on pregnancy outcomes and infant's health: cross‐sectional linkage study

Bibliography on X‐linked mental retardation, the fragile X, and related subjects V (1991)

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