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1.  Neural tube defects in New South Wales, Australia 
Journal of Medical Genetics  1978;15(5):329-338.
Cases of spina bifida cystica, encephalocele, and anencephaly occurring over a 9-year period, 1965 to 1973, in New South Wales, Australia, were identified. A low frequency of 1·1 for spina bifida and encephalocele (SB) and 0·9 for anencephaly (A) was found.
Secular trends parallel to those observed in the northern hemisphere were noted.
Detailed analysis of 1575 cases showed an excess of births in spring, corresponding with conception in the summer months, after correction for shorter gestation in anencephalus, which varies from the peak of spring conceptions observed in British studies.
An excess of female cases for each abnormality and a social class effect with a deficit of cases in classes I and II and an excess in classes IV and V and ex-nuptial births were apparent. The first birth rank for younger mothers did not show a significantly increased risk; however, the effect of high birth rank and older maternal age was more significant. Migration studies showed that in migrating from areas of high incidence these parents maintain a higher risk than the Australian population.
The highest risk group was that in which both parents were born in the UK, and the next highest that in which an English-born mother was married to an Australian father.
Mothers from Malta, and either or both parents from Lebanon, Egypt, and Austria were also at high risk.
Part-aboriginal children had a higher risk rate for ASB than white Australian children.
The proportion of older sibs affected was 4·12% of sibs of both sexes of an index case of spina bifida, and 3·19% of an index case of anencephaly. The abnormalities alternate or recur in families. An increased perinatal mortality rate in sibs was shown.
Twin studies showed a higher concordance rate for monochorionic pairs.
A sequential interaction in an excess of opposite sex sib before an index case was apparent.
The results of this study support a multifactorial aetiology for ASB resulting from genetic environmental interaction.
New South Wales is the eastern coastal state of Australia, with an area of 309 433 square miles and a population of 4 640 800 at the 1971 Census. The continent is geographically isolated with a large migrant population, seasonal reversal, and a hot climate.
PMCID: PMC1013727  PMID: 739521
2.  Comparison of prevalence of depression in mothers of twins and mothers of singletons. 
BMJ : British Medical Journal  1991;302(6781):875-878.
OBJECTIVE--To determine whether the apparent additional and exceptional stresses associated with bearing and parenting twins affect the emotional wellbeing of mothers. SETTING--Great Britain, 1970-5. DESIGN--Cohort study of 13,135 children born between 4 April and 11 April 1970. Mothers of all children, both singletons and twins, were interviewed by health visitors (providing demographic data) and completed a self report measure of emotional well-being (the Rutter malaise inventory) when the child was 5 years of age. The malaise scores of mothers of twins were compared with those of all mothers of singletons and then with those of mothers categorised by the age spacing of their children (only one child, widely spaced, or closely spaced), taking account of maternal age, social class, and whether the study child had a disability, by using logistic regression. SUBJECTS--139 mothers of twins--122 pairs of twins and 17 twins whose cotwin had died--and 12,573 controls, who were mothers of singletons. RESULTS--A significantly higher proportion of mothers of twins at 5 years had malaise scores indicative of depression than mothers of singletons at the same age. Mothers who had borne twins, one of whom had subsequently died, had the highest malaise scores and were three times more likely than mothers of singletons to experience depression. Both mothers of twin pairs and mothers of singletons closely spaced in age were at significantly higher risk of experiencing depression than mothers of children widely spaced in age or mothers of only one child (p less than 0.0001). Odds ratios indicated that the risk of depression in mothers of twins was higher than that in mothers of closely spaced singletons. CONCLUSION--Mothers of twins are more likely to experience depression. This suggests a relation between the additional and exceptional stresses that twins present and the mother's emotional wellbeing.
PMCID: PMC1669218  PMID: 2025725
3.  Handicap and social status of adults with spina bifida cystica 
The present physical handicaps and social status of 202 survivors of spina bifida cystica attending The Hospital for Sick Children, Great Ormond Street before 1954 are described. Ninety-three of the patients, mostly with uncomplicated meningocele, had escaped serious disability and were living normal lives. But 109 had a serious disability, including three who are mentally retarded.
Some of the difficulties of living with spina bifida are described, and a record of work, marriage, and reproduction in the whole group of survivors is shown. Of the 106 with serious locomotor problems and/or incontinence, 58 work regularly, 17 have long spells off work, and 31 have never worked at all; 24 have married, 16 have 26 children none of whom has spina bifida. Of the 96 without physical handicap, 93 work regularly, 47 are married, and 34 have 75 children one of whom has spina bifida cystica and one anencephaly.
PMCID: PMC478843  PMID: 4604518
4.  Spina Bifida and Anencephalus in Greater London 
Journal of Medical Genetics  1973;10(3):209-234.
In order to make comparisons with the findings in a high frequency area, South Wales, with those in a low frequency area, south-east England, a birth frequency and family study was made of all births with neural tube malformations (spina bifida cystica, encephalocele, anencephaly, and iniencephaly) in 32 of the 33 London Boroughs over a 3-year period from 1 April 1965 to 31 March 1968. The births were ascertained through local authority registers, stillbirth and infant death certificates, and hospital records. The frequencies found were 1·54 for spina bifida (including encephalocele) and 1·41 for anencephaly (including iniencephaly). This was less than four tenths of the South Wales frequency. Evidence of an excess of winter births was found for both types of malformation, with a peak for conceptions in February, March, and April.
The parents of 870 of the original 1209 index patients were traced and visited for the family survey. The usual social class effect was seen, a deficit of fathers in social class I and II. The birth order distribution of legitimately born patients standardized for maternal age showed only a small excess of firstborn and a deficit rather than an excess of lateborn. For maternal age, however, standardized for birth order, there was an excess of patients born to mothers under 20 and over 35 years of age. The whole family study sample showed a striking excess of patients born to parents from India and Pakistan compared to parents born in the West Indies in relation to households of immigrant parents in the 1966 sample Census. A small sample of 164 patients with matched controls had more parents born in Ireland and India and Pakistan and fewer born in south-east England and the West Indies than the controls.
The proportions of sibs affected with spina bifida and anencephaly were 3·42% for spina bifida index patients and 5·44% for anencephaly. For patients born after the index patient the proportions were 5·17 and 4·17%, respectively. The overall risk to sibs was lower than that shown in the South Wales survey, but substantially higher relative to the population birth frequency. The risk to sibs was not apparently influenced by father's social class but there was an indication of an effect of mother's father's social class, with a lower risk where mother had grown up in a class I, II, or IIIa home. There was no apparent influence of grandparental birth place. There was no apparent effect of a relative affected other than a sib. Among cousins a significant increase over the population birth frequency was seen only in mother's sisters' children.
The findings, like those of earlier surveys, suggest a multifactorial aetiology of the neural tube malformations, depending both on genetic predisposition and environmental triggers.
PMCID: PMC1013025  PMID: 4590246
5.  A reproductive history of mothers with spina bifida offspring-a new look at old issues 
Background
Spina bifida is a disorder of the cerebrospinal fluid system associated with failure of neural tube closure in the fetus. Reproductive history studies of mothers with spina bifida offspring have often been conducted shortly after the affected child's birth. In this study, a large group of community-based mothers were studied after most had completed their families. The aims were to present a more comprehensive reproductive history and to test several hypotheses regarding the nature of spina bifida.
Methods
Data from 271 mothers was collected by interview 18.3 mean years after the affected child's birth. Data analysis was by χ-square, Fisher exact test and t test with a p value less than 0.05 considered significant.
Results
Females made up 56.5% of affected offspring (probands) and 53.1% of unaffected offspring. The spina bifida and anencephaly recurrence rate was 4.0%. The twinning rate was 8.6/1000 live births. 24.4% of mothers had a history of spontaneous abortion and the rate varied by pregnancy order from 87 to 185/1000 live births. Duration of pregnancies subsequent to probands was shorter for female than male probands. Mean birth weight of probands with high lesions exceeded those with low lesions. A spontaneous abortion preceded female probands more often than males as compared to live births. Affected males with high lesions conceived by white mothers were at greater risk to be spontaneously aborted. Previous inter-gestational interval for mothers with no history of spontaneous abortion was longer for probands than unaffected offspring but not for mothers with a history of spontaneous abortion.
Conclusion
Overall, and for every major subgroup of these mothers, more affected and unaffected female than male offspring were born. Differences by gender and lesion level among probands and between probands and unaffected offspring were consistent with an etiology of unknown genetic factors, hormonal and/or immune system factors.
doi:10.1186/1743-8454-3-10
PMCID: PMC1557536  PMID: 16879755
6.  Maternal occupational exposure during pregnancy and the risk of spina bifida. 
OBJECTIVES: A case-control study was carried out to explore associations between spina bifida and occupational exposure of the mother. METHODS: The cases were children with spina bifida aperta born between 1980 and 1992 from nine hospitals in the Netherlands. The controls were children born healthy in the same period as the cases, from hospitals and from the general population. Data collection was carried out in two steps. Firstly, postal questionnaires were sent to all the parents of cases and controls to gather information on occupations and potential confounders. In the second phase of the study, information on specific exposures was collected by means of job and task specific personal interviews. Interviews were performed with 55 case mothers and 66 control mothers who had occupations with a potential for chemical or physical exposure. Those exposures were assumed to be negligible for--for example, teachers and secretaries, so personal interviews were not indicated for these women. Information was collected on specific tasks in the period just after conception, and on the associated use of chemical or physical agents, frequency of exposure, and use of protective equipment. RESULTS: The analyses of occupation showed an increased risk for women working in agricultural occupations (OR = 3.4, CI:1.3-9.0), and, although less distinct, for cleaning women (OR = 1.7, CI:0.9-3.4). Only a few women seemed to be occupationally exposed to chemical or physical agents. No differences in occurrence of specific exposures could be detected between cases and controls. Besides, no differences were seen in pesticide or disinfectant exposure among case and control mothers in agricultural occupations. CONCLUSIONS: Occupational exposures of the mother during pregnancy were infrequent and did not seem to play an important part in the aetiology of spina bifida in this study. The association found between spina bifida and maternal agricultural occupations could not be explained by the use of pesticides by the mother or by any other occupational exposure.
PMCID: PMC1128418  PMID: 8777455
7.  Natural History of Spina Bifida Cystica and Cranium Bifidum Cysticum 
Archives of Disease in Childhood  1971;46(246):127-138.
The 425 cases of spina bifida cystica and cranium bifidum cysticum born in a population of 850,000 between 1956 and 1962 (with an incidence of 4·12 per 1000 births) were followed. Most did not receive the modern treatment for the condition. Follow-up in 1968 showed that 25% were stillborn, 13% died during the first week of perinatal causes, a further 47% died mostly of the complications of the condition, and 15% are still alive. Life table survival figures suggest for the liveborns a 12·8% life expectancy to the 11th birthday. The series included 18 cases of meningocele (4·2% of the total), diagnosed largely by exclusion; all are surviving and are largely free from physical and mental handicap. 26 cases of encephalocele include 8 survivors who are all retarded but not much crippled. Of the 381 myeloceles, 37 survive who though not much affected mentally are severely handicapped physically with limb paralysis and incontinence, the pattern of which was largely determined by the level of the lesion. There is a close relation between degree of hydrocephalus and severity of mental retardation. Boys surviving show better performance than girls. The incontinent, whether treated or untreated, show no more emotional disturbance than the continent.
This series provides a `baseline' allowing modern and surgical treatment to be evaluated. 60% of the total (or 85% of those liveborn) should be regarded as potentially salvageable. Nearly all cases should probably have the `open' lesion closed as a surgical emergency, but thereafter no further procedure should be undertaken on those with severe hydrocephalus, established renal damage, persistent intracranial infection, or severe kyphosis, or if other severe malformations are present.
PMCID: PMC1647472  PMID: 4930541
8.  Psychological determinants of infantile pyloric stenosis. 
In order to investigate the possible contribution of maternal emotional stress to the aetiology of infantile pyloric stenosis, 100 mothers of affected infants, 100 "normal" controls who had not sought medical advice at any time concerning feeding problems, and 50 mothers of children with spina bifida were interviewed. All completed the Life Events Inventory, which gives a quantitative measurement of stressful life events during a given period. In addition, the subject mothers and "normal" controls completed form A of the Eysenck Personality Inventory, the Multiple Affect Adjective Check list, and Linear Analogue Scales for the subjective measurement of satisfaction with feeding and distress caused by feeding problems. A highly significant difference was found between the number of items given a heavy weighting on the Life Events Inventory experienced by the subjects and both control groups. This was particularly marked during the last trimester of pregnancy. Personality assessment was very similar in all groups, but maternal anxiety scores were higher in the subjects than in the controls. It is concluded that hypertrophic pyloric stenosis occurs unduly frequently in infants of normal mothers who have been subjected to particularly stressful events during pregnancy.
PMCID: PMC1544860  PMID: 626522
9.  Degree of physical handicap, education, and occupation of 51 adults with spina bifida. 
51 adults with spina bifida, aged between 18 and 56 years, resident in South Wales, were interviewed in their home. Although only four had obvious hydrocephalus, one-third of them were severely handicapped and a further 40% had moderate handicap. Over half of them had had their secondary education in a normal school, with the remainder having special schooling or home tuition. Seventy per cent of the series was in normal, full-time occupation, including half those severely handicapped. Those in work were largely in managerial/technical, clerical, and light manual occupations. It is concluded that extendance and training, followed by special job placement, would help to integrate them into the community. These patients show that, in the absence of mental retardation, even severe physical handicap is no bar to normal occupation and that paralysis and incontinence alone are probably not valid selection factors for or against 'aggressive' treatment for spina bifida.
PMCID: PMC478964  PMID: 788821
10.  Spina Bifida and Potatoes 
British Medical Journal  1973;3(5874):251-254.
The results of a retrospective survey of the dietetic and other habits of the mothers of 83 children with spina bifida (mostly schoolchildren with meningomyelocele) were compared with 85 carefully matched controls. The survey was particularly concerned with the consumption of or contact with potatoes by the mothers. No significant differences were found in the amount of potatoes eaten as reported by the mothers (mean for spina bifida group 3·60 1b (1630 g), and for controls 3·98 1b (1800 g) per week). Of the seven other comparisons associated with potatoes only one (obtaining them from the chip shop or restaurant) was significant, the mothers of the children with spina bifida being more likely to obtain some of them from this source.
When examining other aspects of diet it was found that the mothers of spina bifida children reported a lower consumption of a number of important foods, though the deficiency was not significant in any instance. These mothers were also significantly more likely to have been prescribed drugs other than iron and vitamins early in pregnancy and to have reported a wider variety of illnesses.
The results in general do not support the hypothesis that the quantity of potatoes taken is important. They do lend support to the view that poor dietary habits are associated with a higher incidence of spina bifida irrespective of social class. Furthermore, general ill health in the mother may be implicated.
PMCID: PMC1586703  PMID: 4579291
11.  Assessment on self-care, mobility and social function of children with spina bifida in Turkey 
Neural Regeneration Research  2014;9(12):1234-1240.
The aim of the study was to investigate the functional performance in children with spina bifida, using the Pediatric Evaluation of Disability Inventory (PEDI) to look into capacity of twenty-eight children with spina bifida with lesions at different levels in different dimensions of self-care, mobility and social function. Mean age of the patients was 3.5 ± 2.3 (1–10) years. In the muscle test carried out, 13 patients (44.8%) had no movements including pelvic elevation in lower extremity muscles and they were at level 5. Sixteen patients (54%) were non-ambulatory according to the Hoofer ambulation classification. Raw and scale scores in the self-care, mobility and social function domains both in the functional skill scale and in the caregiver scale were found to be lower compared to the data of the normal population. A statistically significant correlation was observed in the self-care values of the Functional Skills Scales and the Caregiver Assistance Scale measurements, which was positive for age and negative for Functional Ambulation Scale and muscle test (P < 0.05). A positive relation was found between the Functional Skills Scales-mobility area and age while a negative relation was observed between Functional Ambulation Scale and muscle test (P < 0.005). A negative relation was also found between Caregiver Assistance Scale-mobility and Functional Ambulation Scale and muscle test (P < 0.005). In our study, the functional performance of the children was found to be low. Low-level lesions, encouraging muscular strength and independence in mobility are all very important factors for functional independence.
doi:10.4103/1673-5374.135332
PMCID: PMC4146288  PMID: 25206788
nerve regeneration; spina bifida; myelomeningocele; disability evalutatıon; self-care; mobility; muscular energy; child; social function; neural regeneration
12.  The assessment of weight status in children and young people attending a spina bifida outpatient clinic: a retrospective medical record review 
Disability and Rehabilitation  2013;35(25):2123-2131.
Purpose
Children with disabilities are two to three times more likely to become overweight or obese than typically developing children. Children with spina bifida (SB) are at particular risk, yet obesity prevalence and weight management with this population are under-researched. This retrospective chart review explored how weight is assessed and discussed in a children’s SB outpatient clinic.
Method
Height/weight data were extracted from records of children aged 2–18 with a diagnosis of SB attending an outpatient clinic at least once between June 2009–2011. Body mass index was calculated and classified using Centers for Disease Control and Prevention cut-offs. Notes around weight, diet and physical/sedentary activities were transcribed verbatim and analysed using descriptive thematic analysis.
Results
Of 180 eligible patients identified, only 63 records had sufficient data to calculate BMI; 15 patients were overweight (23.81%) and 11 obese (17.46%). Weight and physical activity discussions were typically related to function (e.g. mobility, pain). Diet discussions focused on bowel and bladder function and dietary challenges.
Conclusions
Anthropometrics were infrequently recorded, leaving an incomplete picture of weight status in children with SB and suggesting that weight is not prioritised. Bowel/bladder function was highlighted over other benefits of a healthy body weight, indicating that health promotion opportunities are being missed.
Implications for Rehabilitation
It is important to assess, categorise and record anthropometric data for children and youth with spina bifida as they may be at particular risk of excess weight.
Information around weight categorisation should be discussed openly and non-judgmentally with children and their families.
Health promotion opportunities may be missed by focusing solely on symptom management or function.
Healthcare professionals should emphasise the broad benefits of healthy eating and physical activity, offering strategies to enable the child to incorporate healthy lifestyle behaviours appropriate to their level of ability.
doi:10.3109/09638288.2013.771705
PMCID: PMC3857675  PMID: 23510013
Children; obesity; spina bifida
13.  Prevalence of birth defects and risk-factor analysis from a population-based survey in Inner Mongolia, China 
BMC Pediatrics  2012;12:125.
Background
Birth Defects are a series of diseases that seriously affect children's health. Birth defects are generally caused by several interrelated factors. The aims of the article is to estimate the prevalence rate and types of birth defects in Inner Mongolia, China, to compare socio-demographic characteristics among the children with birth defects and to analyze the association between risk factors and birth defects.
Methods
Data used in this study were obtained through baseline survey of Inner Mongolia Birth Defects Program, a population-based survey conducted from 2005 to 2008. The survey used cluster sampling method in all 12 administrative districts of Inner Mongolia. Sampling size is calculated according to local population size at a certain percentage. All live births, stillbirths and abortions born from October 2005 to September 2008, whose families lived in Inner Mongolia at least one year, were included. The cases of birth defects were diagnosed by the clinical doctors according to their experiences with further laboratory tests if needed. The inclusion criteria of the cases that had already dead were decided according to death records available at local cites. We calculated prevalence rate and 95% confidence intervals of different groups. Outcome variable was the occurrence of birth defects and associations between risk factors and birth defects were analyzed by using Poisson regression analysis.
Results
976 children with birth defects were diagnosed. The prevalence rate of birth defects was 156.1 per 10000 births (95%CI: 146.3-165.8). The prevalence rate of neural tube defect (20.1 per 10000 births) including anencephaly(6.9 per 10000), spina bifida (10.6 per 10000), and encephalocele (2.7 per 10000) was the highest, followed by congenital heart disease (17.1 per 10000). The relative risk (RR) for maternal age less than 25 was 2.22 (95%CI: 2.05, 2.41). The RR of the ethnic Mongols was lower than Han Chinese (RR: 0.84; 95%CI: 0.80-0.89). The RR of the third and second pregnancy was significantly higher than the first pregnancy while a slight difference between the second and the first pregnancy was also found. Alcohol drinking of mothers, familial inheritance and living area were also found to be related to the occurrence of the birth defects.
Conclusions
Relatively higher birth defect rates were found in Inner Mongolia. This study found that maternal age less than 25, alcohol drinking, familiar inheritance, lower education level of mothers, times of pregnancies and living in rural areas may increase the risk of birth defects. Ethnic Mongols were less likely to have birth defects than Han Chinese.
doi:10.1186/1471-2431-12-125
PMCID: PMC3473296  PMID: 22900612
Birth defects; Prevalence rate; Relative risk; Risk factors
14.  Children with Spina Bifida are at Risk for Low Bone Density 
Background
Patients with spina bifida frequently sustain lower extremity fractures which may be difficult to diagnose because they feel little or no pain, although the relative contributions of low bone density to pain insensitivity are unclear. Routine dual-energy xray absorptiometry (DXA) scanning is unreliable because these patients lack bony elements in the spine, and many have joint contractures and/or implanted hardware.
Questions/purposes
We asked (1) if the lateral distal femoral scan is useful in spina bifida; (2) whether nonambulatory children with spina bifida exhibit differences in bone mineral density (BMD) compared with an age-and-sex-matched population; and (3) whether Z-scores were related to extremity fracture incidence.
Methods
We retrospectively reviewed 37 patients with spina bifida who had DXA scans and sufficient data. Z-scores were correlated with functional level, ambulatory status, body mass index, and fracture history.
Results
The distal femoral scan could be performed in subjects for whom total body and/or lumbar scans could not be performed accurately. Twenty-four of 37 had Z-scores below −2 SD, defined as “low bone density for age.” Ten of 35 patients (29%) with fracture information had experienced one or more fractures. Our sample size was too small to correlate Z-score with fracture.
Conclusion
We believe BMD should be monitored in patients with spina bifida; nonambulatory patients with spina bifida and those with other risk factors are more likely to have low bone density for age than unaffected individuals. The LDF scan was useful in this population in whom lumbar and total body scans are often invalidated by contracture or artifact. Although lower extremity fractures occur regardless of ambulation or bone density, knowing an individual’s bone health status may lead to interventions to improve bone health.
doi:10.1007/s11999-010-1634-8
PMCID: PMC3069300  PMID: 21042897
15.  The 894G>T variant in the endothelial nitric oxide synthase gene and spina bifida risk 
Journal of Human Genetics  2007;52(6):516-520.
The 894G>T single nucleotide polymorphism (SNP) in the endothelial NOS (NOS3) gene, has recently been associated with embryonic spina bifida risk. In this study, a possible association between the NOS3 894G>T SNP and spina bifida risk in both mothers and children in a Dutch population was examined using both a case-control design and a transmission disequilibrium test (TDT). Possible interactions between the NOS3 894G>T SNP and the MTHFR 677C>T SNP, elevated plasma homocysteine, and decreased plasma folate concentrations were also studied. The NOS3 894TT genotype did not increase spina bifida risk in mothers or children (OR 1.50, 95%CI 0.71–3.19 and OR 1.78, 95%CI 0.75–4.25, respectively). The TDT demonstrated no preferential transmission of the NOS3 894T allele (Χ2 = 0.06, P = 0.81). In combination with the MTHFR 677TT genotype or elevated plasma homocysteine concentrations, the NOS3 894GT/TT genotype increased maternal spina bifida risk (OR 4.52, 95%CI 1.55–13.22 and OR 3.38, 95%CI 1.46–7.84, respectively). In our study population, the NOS3 894GT/TT genotype might be a risk factor for having a spina bifida affected child in mothers who already have an impaired homocysteine metabolism.
doi:10.1007/s10038-007-0147-0
PMCID: PMC1915643  PMID: 17479212
NOS3 894G>T; Spina bifida; Transmission disequilibrium test
16.  Prevalence of spina bifida occulta in patients with functional disorders of the lower urinary tract and its relation to urodynamic and neurophysiological measurements. 
BMJ : British Medical Journal  1989;298(6670):357-359.
OBJECTIVE--To determine the relation between neurophysiological abnormalities and the radiological detection of spina bifida occulta in patients with dysfunction of the lower urinary tract. DESIGN--Blind assessment and subsequent decoding of mixed batch of abdominal radiographs from patients with and without urological symptoms for evidence of spina bifida occulta and comparison of results with those of previous control series. SETTING--Review study among tertiary referrals to an incontinence clinic of a city hospital. PATIENTS--One hundred and thirty eight adults with proved urodynamic abnormalities in whom neurophysiological measurements were available. INTERVENTIONS--None. END POINT--Correlation of neurophysiological abnormalities in lower urinary tract dysfunction with presence and type of spina bifida occulta and level of opening of posterior sacral arcs. MEASUREMENTS AND MAIN RESULTS--On decoding radiographs those from patients without urological symptoms showed a similar prevalence of spina bifida occulta to that in the control series (631/2707 controls; 23%). By contrast, patients with urological symptoms had a significantly increased prevalence of spina bifida occulta at S1 and S2 and a higher level of opening of posterior sacral arcs. The increased prevalence of the bony defect was particularly striking in men with urgency and instability and in women with stress incontinence. No significant correlation was found between any particular neurophysiological abnormality and the presence of spina bifida. CONCLUSIONS--In patients with dysfunction of the lower urinary tract neurophysiological abnormalities may be associated with congenital dysraphic lesions in the lower lumbar spine and sacrum. There appears to be no direct causal relation between the radiological and neurophysiological abnormalities but the findings suggest a common aetiological factor.
PMCID: PMC1835713  PMID: 2493933
17.  Spina Bifida Children Attending Ordinary Schools 
British Medical Journal  1975;1(5950):142-145.
From September 1971 to September 1973 a policy was actively followed in South Gloucestershire of placing spina bifida children in ordinary schools wherever possible. This was achieved successfully in 14 cases out of a possible 24. Special attention was paid to the selection of children and schools. The main contraindications to attendance at ordinary school were: below average intelligence, special perceptual problems, the need for intensive physiotherapy, and problem incontinence—particularly infaecal continence. Success often depended on special provisions—for example, transport, aids to mobility, peripatetic physiotherapists. Personal attendants (welfare assistants) could be allocated to each of the more severely handicapped children. The lack of facilities for handicapped pupils in comprehensive schools is a matter needing urgent review.
PMCID: PMC1671998  PMID: 1089442
18.  Risk of recurrence after two children with central nervous system malformations in an area of high incidence. 
Journal of Medical Genetics  1980;17(2):87-92.
This study was undertaken to provide an estimate of the recurrence risk of central nervous system (CNS) malformation in families with two or more affected children. The hospital records and the records of the Genetic Counseling Clinics were examined for instances where a child born between 1962 to 1973 had spina bifida and anencephalus and was documented as having an affected elder sib; such children were taken as index patients. Parents of 76 families with 89 index patients were interviewed. Fifty-one index patients had younger sibs; of 85 younger sibs, 12 had spina bifida and six anencephalus (1 in 4.7). Little variation was observed in the proportion of subsequent children affected with the type of lesion in the index patient and the affected older sib. Ten index patients with two older affected sibs had 14 subsequent sibs of whom four had a CNS malformation (1 in 3.5). For the purpose of genetic counselling it was suggested that the risk after two and three children with CNS malformations in Northern Ireland was 1 in 5 and 1 in 4, respectively.
PMCID: PMC1048508  PMID: 6991696
19.  A systematic review of self-management interventions for children and youth with physical disabilities 
Disability and Rehabilitation  2013;36(4):276-288.
Purpose:
Evidence shows that effective self-management behaviors have the potential to improve health outcomes, quality of life, self-efficacy and reduce morbidity, emergency visits and costs of care. A better understanding of self-management interventions (i.e. programs that help with managing symptoms, treatment, physical and psychological consequences) is needed to achieve a positive impact on health because most children with a disability now live well into adulthood.
Method:
A systematic review of self-management interventions for school age youth with physical disabilities was undertaken to assess their effectiveness. Comprehensive electronic searches using international web-based reference libraries were conducted for peer-reviewed and gray literature published between 1980 and January 2012. Eligible studies examined the effectiveness of self-management interventions for children and youth between 6 and 18 years of age with congenital or acquired physical disabilities. Studies needed to include a comparison group (e.g. single group pre/post-test design) and at least one quantifiable health-related outcome.
Results:
Of the 2184 studies identified, six met the inclusion criteria; two involved youth with spina bifida and four with juvenile arthritis. The majority of the interventions ran several sessions for at least 3 months by a trained interventionist or clinician, had one-to-one sessions and meetings, homework activities and parental involvement. Although outcomes varied between the studies, all of the interventions reported at least one significant improvement in either overall self-management skills or a specific health behavior.
Conclusions:
While self-management interventions have the potential to improve health behaviors, there were relatively few rigorously designed studies identified. More studies are needed to document the outcomes of self-management interventions, especially their most effective characteristics for children and youth with physical disabilities.
Implications for Rehabilitation
There is some evidence to suggest that self-management interventions for children and youth with spina bifida and arthritis can improve self-management behaviors and health outcomes.
Parents’ involvement should be considered in encouraging self-management behaviors at different stages of their child’s development.
Much work is needed to explore the longer term implications of self-management interventions for youth with physical disabilities as well as the impact on health care utilization.
doi:10.3109/09638288.2013.785605
PMCID: PMC3934376  PMID: 23614359
Adolescents; children, disability; self-care; self-management
20.  Survival and handicap of infants with spina bifida. 
Archives of Disease in Childhood  1980;55(11):845-850.
A follow-up study was carried out on 213 infants born with spina bifida cystica (including encephalocele and occipital meningocele) from 1965 to 1972 to women resident in Oxfordshire and the western part of Berkshire. The 5-year survival rate was 36% (39/107) for those with open lesions, 60% (30/50) for those with closed ones, and 18% (10/56) for those with lesions which could not be classified (not known) but which were probably nearly all open. The extent of handicap among these survivors was assessed by means of criteria described by Lorber; among those with open lesions (including 'not known') 84% (41/49) were severely handicapped, 10% (4/49) were moderately handicapped, and only 6% (3/49) had no handicap; among those with closed lesions, 37% (11/30) were severely handicapped, 33% (10/30) were moderately handicapped, and the remaining 30% (9/30) were not handicapped. Closed head lesions (encephalocele or occipital meningocele) were more often associated with severe handicap (6/8; 75%) than were closed spinal lesions (5/22; 23%). The children with open lesions who survived for at least 5 years spent, on average, at least 6 months in hospital during the first 5 years of their life and had, on average, at least 6 major surgical operations. In comparison, those with closed lesions spent one-third less time in hospital, and had fewer than half as many operations. During the period of the study a selective treatment policy was adopted typical of that commonly practised now, and all the infants were born before antenatal screening had been introduced. Our results therefore may be helpful in assessing the benefits to be expected from antenatal screening for open spina bifida.
PMCID: PMC1626957  PMID: 7436454
21.  Marjolin's ulcers: theories, prognostic factors and their peculiarities in spina bifida patients 
Background
Due to improved care, more and more children born with spina bifida in rural Kenya are surviving into adulthood. This improved survival has led to significant challenges in their lifestyles, especially the need to ensure pressure ulcer prevention and treatment. Malignant degeneration of pressure ulcers in spina bifida patients is very rare. The author describes the clinical presentation of two pressure ulcer carcinomas that are at variance from classical descriptions.
Materials and methods
An internet/Medline/PubMed search of English literature for theories on Marjolin's ulcer evolution and prognostic features of Marjolin's ulcers was performed.
A chart review of two young adults with spina bifida who had presented to the author's hospital between 2004 and August 2010 with chronic pressure ulcers found to be Marjolin's ulcers on histo-pathological examination was performed, and the clinical features are reported.
Results
The two ulcers appeared clinically benign: one was a deep ulcer, while the other was shallow; both had normal, benign-appearing edges, and a foul smelling discharge. The two ulcers were surrounded by induration and multiple communicating sinuses, with no evidence of chronic osteomyelitis. The internet search revealed a total of nine theories on Marjolin's ulcer development, as well as seven clinical and four histological prognostic features.
Discussion
The multifactorial theory, a coalescence of a number of proposed theories, best explains the evolution of Marjolin's ulcers. Poor prognostic features include pressure ulcer carcinomas, lesions and location in the lower limbs/trunks, all present in the two patients making their prognosis dim: this is despite the surgical margins being clear of tumor. Benign appearance, induration and presence of multiple communicating sinuses are features that have not been previously described as presenting features of pressure ulcers carcinomas.
Conclusion
There is need for spina bifida patients and their guardians/caretakers to receive a close follow-up throughout life; health education focused on pressure ulcer prevention as well as early treatment of pressure ulcers when they occur, will avert the development of Marjolin's ulcers, and save lives.
doi:10.1186/1477-7819-8-108
PMCID: PMC3014936  PMID: 21129225
22.  The Natural History of Spina Bifida in Children Pilot Project: Research Protocol 
JMIR Research Protocols  2013;2(1):e2.
Background
Population-based empirical information to inform health care professionals working with children with spina bifida currently is lacking. Spina bifida is a highly complex condition that not only affects mobility but many additional aspects of life. We have developed a pilot project that focuses on a broad range of domains: surgeries, development and learning, nutrition and physical growth, mobility and functioning, general health, and family demographics. Specifically, we will: (1) explore the feasibility of identifying and recruiting participants using different recruitment sources, (2) test a multidisciplinary module to collect the data, (3) determine the utility of different methods of retrieving the data, and (4) summarize descriptive information on living with spina bifida.
Objective
The overall objective of the project was to provide information for a future multistate prospective study on the natural history of spina bifida.
Methods
Families with a child 3 to 6 years of age with a diagnosis of spina bifida were eligible for enrollment. Eligible families were identified through a US population-based tracking system for birth defects and from a local spina bifida clinic.
Results
This is an ongoing project with first results expected in 2013.
Conclusions
This project, and the planned multistate follow-up project, will provide information both to health care professionals experienced in providing care to patients with spina bifida, and to those who have yet to work with this population. The long-term purpose of this project is to increase the knowledge about growing up with spina bifida and to guide health care practices by prospectively studying a cohort of children born with this condition.
doi:10.2196/resprot.2209
PMCID: PMC3628157  PMID: 23612276
spina bifida, musculoskeletal disorder, health, children, follow-up
23.  Can we afford screening for neural tube defects? The South Wales experience. 
Clinical and financial gains and losses accruing from five different options for screening for open neural tube defects were estimated, based principally on the results of detailed monitoring of inputs and outcomes and of process costs in the South Wales Anencephaly and Spina Bifida Study. As well as estimating the overall clinical costs of a screening service it was shown that if the prevalence, including terminations, of open neural tube defects is between 1.25 and five per 1000 births the financial cost of avoiding the birth of a seriously handicapped child who would survive for more than 24 hours is in the range 9000 pounds- 54000 pounds depending on the option adopted and the prevalence of the condition in the target population. Prevalence is the biggest determinant of cost. The data should provide a basis for assessment and discussion of resource priorities in the National Health Service.
PMCID: PMC1417540  PMID: 3917791
24.  Neural-tube defects: importance of a history of abortion in aetiology. 
British Medical Journal  1979;1(6169):975-976.
The overall incidence of anencephaly and spina bifida (ASB) in 69,056 pregnancies was 4.7/1000 births. ASB was more common (8.4/1000 births) among children of mothers who had had two or more abortions, but the increased risk was confined to spina bifida. A history of abortion was more common in older women and women of higher parity, but this was not matched by a similar increase in the incidence of ASB. The incidence of ASB was related to social class, but the prevalence of previous abortions was similar in all classes. The results suggest that expectant mothers with a history of two or more abortions have an increased risk of producing a child with spina bifida. The abortions are considered to be a manifestation of previous abnormal conceptions rather than the primary cause.
PMCID: PMC1598666  PMID: 373858
25.  Young Children's Probability of Dying Before and After Their Mother's Death: A Rural South African Population-Based Surveillance Study 
PLoS Medicine  2013;10(3):e1001409.
Brian Houle and colleagues examine the temporal relationship between mother and child death by using 15 years of data (1994–2008) from household surveys conducted in the Agincourt sub-district of South Africa.
Background
There is evidence that a young child's risk of dying increases following the mother's death, but little is known about the risk when the mother becomes very ill prior to her death. We hypothesized that children would be more likely to die during the period several months before their mother's death, as well as for several months after her death. Therefore we investigated the relationship between young children's likelihood of dying and the timing of their mother's death and, in particular, the existence of a critical period of increased risk.
Methods and Findings
Data from a health and socio-demographic surveillance system in rural South Africa were collected on children 0–5 y of age from 1 January 1994 to 31 December 2008. Discrete time survival analysis was used to estimate children's probability of dying before and after their mother's death, accounting for moderators. 1,244 children (3% of sample) died from 1994 to 2008. The probability of child death began to rise 6–11 mo prior to the mother's death and increased markedly during the 2 mo immediately before the month of her death (odds ratio [OR] 7.1 [95% CI 3.9–12.7]), in the month of her death (OR 12.6 [6.2–25.3]), and during the 2 mo following her death (OR 7.0 [3.2–15.6]). This increase in the probability of dying was more pronounced for children whose mothers died of AIDS or tuberculosis compared to other causes of death, but the pattern remained for causes unrelated to AIDS/tuberculosis. Infants aged 0–6 mo at the time of their mother's death were nine times more likely to die than children aged 2–5 y. The limitations of the study included the lack of knowledge about precisely when a very ill mother will die, a lack of information about child nutrition and care, and the diagnosis of AIDS deaths by verbal autopsy rather than serostatus.
Conclusions
Young children in lower income settings are more likely to die not only after their mother's death but also in the months before, when she is seriously ill. Interventions are urgently needed to support families both when the mother becomes very ill and after her death.
Please see later in the article for the Editors' Summary
Editors' Summary
Background
Over the past few years, there has been enormous international effort to meet the target set by Millennium Development Goal 4—to reduce the under-five child mortality rate by two-thirds from the 1990 level by 2015. There has been some encouraging progress, and according to the latest figures from the World Health Organization, in 2011, just under 7 million children less than five years died, a fall of almost 3 million from a decade ago. However, such efforts must also consider the health of the mother, as it is now also well established that the health of children is intrinsically linked to their mother's health: there is strong evidence from low- and middle-income countries that children's risk of dying increases around the time of their mother's death, particularly relating to the HIV pandemic in Africa.
Why Was This Study Done?
Previous studies examining the timing of a child's death relative to that of their mother have mainly focused on the period after the mother's death. So far, there have been few studies examining the link between a child's death and the period when his/her mother becomes ill and unable to care for and feed her child. In this study from the Agincourt sub-district in northeast South Africa, the researchers investigated the relationship between young children's chance (odds) of dying and the timing of their mother's death, particularly to examine whether there were critical periods of risk for children before their mother's death.
What Did the Researchers Do and Find?
The researchers used the health and socio-demographic surveillance system in the area, which had 15 years (1994–2008) of information from yearly household surveys. The researchers focused on young children (0–6 months, 7–23 months, and 24–59 months) whose mothers had died, and through a statistical model, analysed the changes in the child's chance (odds) of dying from a year before the mother's death through to any time after her death during the study period. The cause of the mother's death was identified from verbal autopsy and categorized as being related to AIDS or tuberculosis (chronic) or other (mostly acute) causes not related to these infections. The researchers took other factors into account in their analysis and compared the odds of dying for children whose mothers died with those whose mothers were alive.
Using these methods, the researchers found that a total of 1,244 children (3% of the total sample) died between 1994 and 2008. Importantly, the researchers found that although the period when children are more likely to die began to increase in the period 6–11 months before their mother's death, there were three distinct periods of a much higher chance (odds) of death: the period 1–2 months before the month in which their mother died (odds ratio 7.1), the month of her death (odds ratio 12.6), and the period 1–2 months following her death (odds ratio 7.0). Furthermore, during the five-month period around the time of their mother's death, children (both boys and girls) aged 0–6 months were about nine times more likely to die than children aged 24–59 months. Finally, children were about 1.5 times more likely to die if their mother died of an AIDS/tuberculosis-related cause.
What Do These Findings Mean?
These finding suggest that in low-income settings, young children are more likely to die in the months before their mother's death, when she is seriously ill, not just in the period after her death. The chance of dying is particularly increased in very young children (0–6 months) and in children whose mother died of HIV/tuberculosis-related causes. Although this study had several limitations, such as limited information on the child's cause of death, this study highlights the urgent need for proactive and coordinated community-based interventions to support families, especially vulnerable children, when a mother becomes seriously ill, in addition to the period following her death.
Additional Information
Please access these websites via the online version of this summary at http://dx.doi.org/10.1371/journal.pmed.1001409.
The Countdown to 2015 initiative has the latest country information on progress in reducing maternal, neonatal, and child deaths
The World Health Organization has more information on Millennium Development Goal 4
The Joint United Nations Joint Programme on HIV/AIDS has information about the number of deaths from HIV-related causes
MRC/Wits Rural Public Health and Health Transitions Research Unit (Agincourt) has more information on the research platform that made this study possible
doi:10.1371/journal.pmed.1001409
PMCID: PMC3608552  PMID: 23555200

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