Craniosynostosis in Western Australia, 1980-1994: A population-based study

Abstract

A craniomaxillofacial unit was established recently in Western Australia, and a study was carried out to provide some baseline characteristics of primary craniosynostosis in Western Australia and to investigate whether there has been any significant temporal change in birth prevalence. A case control study was conducted, using cases identified from a population-based register of birth defects, and a random sample of all births without a birth defect formed the control group. All subjects were born in Western Australia over the period 1980-1994 inclusive. The prevalence of craniosynostosis over the period 1980-1994 in Western Australia was 5.06 per 10,000 births. There was a significant linear increase in lambdoid synostosis over this period of 15.7% per year. Craniosynostosis was significantly more common among male infants, infants born preterm (<37 weeks gestation), breech presentation or presentations other than vertex, and infants born to fathers 40 years of age or older, even after accounting for known autosomal dominant syndromes. Other major birth defects were found in 11.2% of children with nonsyndromic craniosynostosis. Only 43 children (25.3%) with craniosynostosis were reported to have been seen by a geneticist. Thus, the prevalence of craniosynostosis in Western Australia is among the lowest reported. There is no current explanation for the increase in lambdoid synostosis. The increased risk of so-called nonsyndromic craniosynostosis with paternal age raises the possibility of undiagnosed new dominant mutations. This, along with the excess of other birth defects in children with craniosynostosis emphasises the need to ensure that these families are offered genetic counseling.

Differences in surgical outcomes for patients with craniosynostosis in the US: impact of socioeconomic variables and race

“…At the same time, environmental factors such as maternal smoking, 10 nitrosatable drug use, 4,14 vitamin intake, 2 and hormonal factors such as hyperthyroidism 9 have also been shown to play roles in premature cranial suture closure, as well as advanced maternal age 11 and factors influencing fetal head constraint such as macrosomia, breech presentations, and multiple births. 1,8,11,21 Thus, demographic variabilities of craniosynostosis may be due to higher proportions of predisposed populations or higher rates of environmental exposures and maternal-fetal comorbidities. Further studies are needed to differentiate between the predisposing causes that lead to the racial and regional disproportions of craniosynostosis.…”

Association of paternal age with prevalence of selected birth defects

“…This is most likely because other studies either had much lower percentages of cases missing paternal age information than did ours (Dzurova and Pikhart, 2005;Erickson and Bjerkedal, 1981;McIntosh et al, 1995;Olshan et al, 1994;Roecker and Huether, 1983), only mentioned the percentage of records missing paternal age for the whole birth registry instead of for the birth defect cases (Kazaura et al, 2004a;Polednak, 1976), or were case-control studies that gave no information about the number of cases missing paternal age (Balgir, 1984;Singer et al, 1999;Zhan et al, 1991). Unlike our study, which used both live births and fetal deaths, most studies providing information about missing paternal age used only live births in their analyses (Dzurova and Pikhart, 2005;McIntosh et al, 1995;Olshan et al, 1994;Roecker and Huether, 1983).…”

“…Indeed, the only disorders that clearly appear to increase with advanced paternal age are de novo cases of Apert syndrome and achondroplasia (Glaser et al, 2003;Hurst and Ellegren, 2002;Risch et al, 1987;Singer et al, 1999;Thacker, 2004), which are both single-gene, autosomal dominant mutations. It is possible that these patterns might also hold true for more complex defects (Crow, 2000).…”

“…Examples include ventricular and atrial septal defects, neural tube defects, trisomies 13, 18, and 21, craniosynostosis, cleft palate, and cleft lip (Balgir, 1984; y This article is a US Government work and, as such, is in the public domain in the United States of America. Erickson and Bjerkedal, 1981;Glaser et al, 2003;Hook et al, 1981;Kazaura et al, 2004a;McIntosh et al, 1995;Olshan et al, 1994;Singer et al, 1999). An increased risk of gastroschisis and pyloric stenosis has been associated with younger maternal age in several studies (Baird et al, 1991;Haddow et al, 1993;Reefhuis and Honein, 2004;Schechter et al, 1997), but the paternal age effect for these birth defects has not been sufficiently investigated.…”

Influence of Paternal Age in Schizophrenia

“…Pour expliquer cette situation, certains auteurs ont fait l"hypothèse de l"implication de mutations de novo dont on sait qu"elles augmentent avec l"âge paternel. L"âge paternel avancé est non seulement considéré comme un facteur de risque du développement de la schizophrénie, mais a également été associé à de nombreux troubles neuro-développementaux (diminution des capacités intellectuelles et neuro-cognitives [1, 21,30,31], autisme [30]) ainsi qu"à d"autres pathologies (syndrome d"Apert, Progeria, achondroplasie [12,36,40], crâniosynostose [33], situs inversus [16], syndactylie [27], bec de lièvre [26,32], hydrocéphalie [32], cancer [10,43]). Une des explications étant la survenue de mutations au niveau des gamètes paternels responsables de l"apparition de cas sporadiques [4].…”