Biomedical subjects
E Alberman
Publications and source records attributed to E Alberman.
Prediction of the number of Down's syndrome infants to be born in England and Wales up to the year 2000 and their likely survival rates.
Using current demographic projection of maternal age-structure, age-specific fertility rates, and the availability, detection and utilization rates of prenatal diagnosis and subsequent termination rates, predictions are made of the likely numbers of births with Down's syndrome (DS) in England and Wales to be expected up to the year 2000. Further predictions are made of age-specific prevalence of the condition bearing in mind recent trends in survival. These figures show that, despite current screening policies based on maternal age alone, the observed live birth prevalence of DS will rise to levels higher than have been seen for 20 years. Together with consistently increased survival, this will mean that, throughout the next century, the population prevalence of DS will be higher than ever before. Work based in other countries has reached similar conclusions. As the prevention of all births affected by DS is not possible in the forseeable future, and some would argue that it is not desirable, society will need to provide for those affected.
The contrasting effects of parental birthweight and gestational age on the birthweight of offspring.
Investigations on intergenerational effects on birthweight have been carried out using the data of the 1958 British National Birthday Trust Fund cohort and its follow-up to 23 years, the National Child Development Study (NCDS-4), which included information on all births to cohort members by that age. This report is directed particularly at ascertaining the independent effect of parental gestational age on babies' birthweight. The two main findings are a direct association between parental and offspring birthweight (significant for both mothers and fathers after allowing for confounding factors), but an inverse association with parental gestational age (significant only for the mothers). It is postulated that at least part of this effect is mediated through the association between maternal fetal growth rate and their babies' birthweight; the faster the rate the shorter the gestational age for a given birthweight. It was not possible to ascertain what part genetic factors played in this relationship. Larger and more informative intergenerational studies are needed to further knowledge on this question.
Cerebral palsy epidemiology: where are we now and where are we going?
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Intergenerational studies of human birthweight from the 1958 birth cohort. 1. Evidence for a multigenerational effect.
OBJECTIVE: To investigate possible multigenerational influences on birthweight. DESIGN: Data from the longitudinal study of one week's births in 1958 up to the age of 23 years, the British National Child Development Study, were utilized. These provide socio-biological information on the parents of the cohort, on the cohort members from birth onwards, and on the pregnancies and the birthweight of any babies born to the cohort members. MAIN OUTCOME MEASURE: The main outcome was the birthweight of babies born to the cohort members, for whom complete intergenerational data were available for 1638 firstborn. Multiple regression modelling was used to investigate any associations between their birthweight and characteristics of their parents and grandparents. RESULTS: Significant positive associations were found between babies' birthweight and parental birthweight but not gestational age. For the babies born to female cohort members additional findings included associations between their birthweight and the height of the maternal grandmother and the social class of the maternal grandfather, even after adjustment for such strong predictors of birthweight as maternal weight, smoking habit in pregnancy and baby's sex and birth order. CONCLUSION: These results thus offer support for a multigenerational influence on birthweight passed through the maternal line.
Intergenerational studies of human birthweight from the 1958 birth cohort. II. Do parents who were twins have babies as heavy as those born to singletons?
OBJECTIVE: To ascertain whether maternal twinning influences the previously described association between the birthweight of singleton mothers and their infants. DESIGN AND SUBJECTS: The association between the birthweight of singleton parents and their offspring and that between twin parents and their offspring was compared using data from the 23-year-old sample of the 1958 British national birth cohort. The numbers available for full comparison were 1027 female and 611 male singleton cohort members, and 26 female and 17 male twin cohort members and their first singleton livebirths. RESULTS: Of the mothers who had been twins, half had been of low birthweight, and overall their mean weight was 700 g less than that of their singleton counterparts. Nevertheless, the mean birthweight of babies of twin mothers was 133 g, and of twin fathers 94 g, greater than of babies of corresponding singletons. For female, but not male, parents this difference persisted after adjustment for confounding variables. CONCLUSIONS: We suggest two possible reasons for the difference between the weight of babies of twin and singleton mothers. Firstly, the growth of twins becomes retarded late in pregnancy, possibly after a period critical in determining long-term reproductive effects. Secondly, the twin survivors were of higher birthweight than the original twin cohort, whilst the singleton survivors were more representative of all singleton births, thus introducing a possible bias.
Cerebral palsy--an increasing contributor to severe mental retardation?
It is estimated that the prevalence of nongenetic SMR associated with cerebral palsy has risen from 0.7 to about 0.9 per 1000 live births in the last decade. This is due to the predicted rise in total cerebral palsy prevalence to 2.5/1000 live births. This predicted prevalence of cerebral palsy is similar to that given for Western Australia in 1979-82, allowing for postnatal causes, but is higher than prevalence data from England and Sweden for that period. The estimated rise is due largely to improved survival and increased proportion of low birthweight babies since 1983 and also reflects the use of prevalence rates based on Mersey data. Improvements in prenatal diagnosis, and a parental choice of selective termination may lead to reductions in other causes of SMR, such as Down's syndrome and neural tube defects, so it seems that children both physically and mentally handicapped due to brain damage will contribute a greater proportion of the SMR population. The careload of these children is greater than that associated with many other causes of SMR and most survive into adult life. The implications for planning future services will need to be recognised.
Results of first year (1989) of a national register of Down's syndrome in England and Wales.
OBJECTIVE: To examine the feasibility of a national register of Down's syndrome and its effectiveness in evaluating prenatal screening for the syndrome. DESIGN: Information for the register was obtained from all eligible cytogenetic laboratories on relevant cytogenetic diagnoses, including date and place of birth or termination, maternal age, indication for karyotyping, and type of diagnostic test used. SETTING: Cytogenetic laboratories in England and Wales. SUBJECTS: All fetuses with trisomy 21 diagnosed prenatally and live births with Down's syndrome diagnosed at birth. MAIN OUTCOME MEASURES: Number of prenatal and postnatal diagnoses of Down's syndrome. National and maternal age specific prevalence of Down's syndrome. RESULTS: For 1989 there were 1060 registrations--323 prenatal diagnoses and 737 postnatal diagnoses--after exclusion of postnatally diagnosed miscarriages and stillbirths. The estimated national rate of affected births for mothers resident in England and Wales was 1.4/1000 live births, assuming no terminations of affected pregnancies and after correction for natural losses which would have occurred in the absence of termination. The corrected maternal age specific rates were close to those found in previous population based studies. The proportion of affected pregnancies diagnosed prenatally in mothers aged 35 to 39 was 44%, and for those aged 40 or more it was 71%. Abnormal findings on ultrasonography played an unexpectedly important part in initiating cytogenetic investigation (13% of the prenatal diagnoses). CONCLUSIONS: The findings establish the feasibility of a national Down's syndrome register and its use in evaluating prenatal screening services. Together with information held by the Office of Population Censuses and Surveys on congenital malformations, data from the register will permit studies of environmental variables affecting the prevalence of the syndrome.
Trends in prevalence and survival of very low birthweight infants, England and Wales: 1983-7.
Between 1983 and 1987 over 99% of all infants born in England and Wales had their birth weights recorded when the birth was registered. Trends in occurrence and one year survival of those who weighed under 1500 g at birth have been calculated in 100 g groups, separately for single and multiple births. By 1987 singleton live births in England and Wales who weighed between 700 and 799 g had a 43% chance of surviving to 1 year compared with a 32% chance five years earlier; those who weighed 800 to 899 g had a 55% chance compared with 46%. The absolute number of survivors weighing between 500 and 999 g at birth increased by nearly 50% between 1983 and 1987, and there was a 30% increase overall in survivors weighing less than 1500 g.
Certified cause of death in children and young adults with cerebral palsy.
The status of 732 children suffering from cerebral palsy from the South East Thames region (births from 1970-9) was ascertained at the end of 1989, and copies of death certificates of the 73 children who have died, aged 4 weeks to nearly 16 years, were obtained. Infantile cerebral palsy (ICD Code 343-) was coded as the underlying cause of death in only 16 (22%) cases. On 28 (38%) certificates there was no mention of any form of cerebral palsy, the proportion in which it was not mentioned increasing with age. In 20 (28%) cases the coded underlying cause of death was respiratory, hence in published national statistics the number of deaths from respiratory causes is inflated. A postmortem examination was known to have been performed in 23 cases, but the recorded information was in some cases limited to a 'terminal event'. The importance of good data on the death certificate, and the significance of published national statistics, need to be communicated to all those involved in the certification process if cerebral palsy and other chronic conditions, which raise the relative risk of death, are not to be under-represented.
Diagnosis of motor neuron disease by neurologists: a study in three countries.
Ninety four neurologists in the United Kingdom, China, and West Germany responded to two structured questionnaires. The first assessed the diagnostic weighting assigned to a number of symptoms, signs, and clinical investigations ascertained from classical descriptions and case notes of patients with motor neuron disease (MND). The second tested the likelihood and consistency of diagnosis in a series of case summaries representing the clinical data of 10 patients with clinically and pathologically documented motor neuron disease. There was a wide measure of agreement concerning the common clinical features of the disease, especially regarding fasciculation of the tongue, fasciculation associated with weakness seen in more than one limb, and dysphagia. In the case summaries, however, there was clear variation in the ranked likelihood of the diagnosis of MND and in the consistency of diagnostic behaviour in the different groups of neurologists. These findings support the need for internationally agreed criteria in the diagnosis of MND. Any such criteria will need to be tested against a standardised data set to establish their validity.
Are our babies becoming bigger?
I have tried to show, using a contemporary international data set, the overall consistency in shape of curves of national birthweight distributions which reflect the biological and social characteristics of the population from which they are derived, and the effects of changes in these characteristics. For several countries, including the United States and England and Wales, the trends in recent years have been such as to shift the main distribution upwards, so that the median weight has increased. Also shown has been the close and specific relationship within each population group between infant mortality and birthweight, with sharp falls of mortality with increasing birthweight. It has been shown elsewhere that similar patterns are seen with short- and long-term morbidity, thus underlining the importance to be attached to increasing birthweight particularly in underprivileged groups. In the short term this can be done by reducing the frequency of parental smoking, where this is a problem, and in the longer term by improving maternal health and nutrition. The shift towards higher birthweights if it persists, should make an important contribution towards the improvement of the public health of the next generation.
Maternal smoking habits and Down's syndrome.
Two series of pregnancies were studied to investigate the relationship between maternal smoking and the risk of fetal Down's syndrome. In the first series, ascertained in the 1960s, in which smoking habits were determined after the outcome of pregnancy was known, the proportion of smokers (47 per cent) among the 461 women whose pregnancies ended in the birth of an infant with Down's syndrome was similar to that in the 461 controls (46 per cent) who had pregnancies affected by other congenital disorders. In the second series, ascertained between 1973 and 1984, smoking habits were determined by measurement of cotinine in antenatal serum samples that were routinely collected and stored or, if a serum sample was not available, from information in the antenatal notes. In this series, the proportion of smokers (14 per cent) among the 91 women who had pregnancies associated with Down's syndrome was lower than that among 413 controls (19 per cent), though this was not statistically significant. Collectively, our results provide no evidence for an association between fetal Down's syndrome and smoking. Other published studies found a deficit of smokers among women who had pregnancies associated with Down's syndrome. This may be partly due to some studies not taking adequate account of maternal age (older women are more likely to have had a Down's syndrome pregnancy but are less likely to be smokers) and partly due to the greater tendency for positive findings to be published than negative ones.
Socio-economic and ethnic factors in stillbirth and neonatal mortality in the NE Thames Regional Health Authority (NETRHA) 1983.
All stillbirths and neonatal deaths occurring in the North East Thames region were studied in 1983. This report describes the socio-economic and ethnic differences in that cohort. The stillbirth and neonatal mortality rates of babies born to fathers of social class V (16.8 per 1000 total births) was almost double that of social class I fathers (8.6 per 1000 total births). The most marked social class gradient was seen in the macerated stillbirth groups. Of particular concern was the extremely high stillbirth and neonatal mortality rate for women born in the Indian subcontinent. This was most evident in Pakistani women who had a stillbirth plus neonatal mortality rate of 17.3 per 1000 total births, almost twice that of the women born in the UK (9.0 per 1000 total births). Again, as with social class, macerated stillbirths appeared to contribute disproportionately to the excess mortality. Mortality rates were aggregated into four birthweight specific groups. Asian women had higher mortality rates in the higher birthweight groups, whereas in the lower birthweight group their babies did slightly better. This study indicated that the special needs for working class and ethnic minority mothers within NE Thames were not being met, and the Regional Health Authority was strongly recommended to review services to these groups.
Cerebral palsy: why we must plan for survival.
The survival of children in the South East Thames region, born between 1970 and 1979 and diagnosed as having some form of cerebral palsy was investigated. Of the 732 children studied, 651 (90%) are still alive, and hence cerebral palsy must be regarded as a condition with which people live rather than a condition of which they die. Survival varies considerably among the different diagnostic groups: those suffering from spasic quadriplegia, dyskinetic and 'mixed' cerebral palsy are most severely affected. Our evidence suggests that, though immobility and severe mental subnormality are the strongest predictors of mortality in children with cerebral palsy, the majority of even the most severely affected patients survive to adulthood. It is therefore appropriate to plan for their survival by funding and evaluating programmes to maximise health, independence, and quality of life.
Clinical features and associations of 560 cases of motor neuron disease.
In 560 cases of motor neuron disease, studied retrospectively from their case notes in three teaching centres, the age at onset ranged from 13 to 87 years (mean 56 years), and the mean duration of illness until death was 2.6 years. In the subgroup of the disease presenting with progressive bulbar palsy presenting after age 59 years, there was a previously unrecognised excess of females sufficient to equalize the sex ratio of incidence of the disease in this age group. No potentially causative clinical associations emerged; no relation was noted between occupational exposure to leather products, trauma or surgical procedures and the disease. There was a trend for patients with motor neuron disease to give a history of abstention from alcohol.
Congenital malformations.
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Antenatal and perinatal causes of handicap: epidemiology and causative factors.
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