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1.  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
2.  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
3.  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
4.  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
5.  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
6.  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
7.  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
8.  Neuropsychological assessment of attention in children with spina bifida 
Background
Children with the severe form of spina bifida (SBM: spina bifida with myelomeningocele with accompanying hydrocephalus) may manifest attention deficits, and have a similar psychological profile to children with hydrocephalus due to other etiologies. It is unclear to what extent tests to assess attention in SBM are confounded by the accompanying cognitive or visual-motor impairments. The aim of this study was to analyse attention functions by administering two different types of attention tests, one with high and the other with low cognitive and motor requirements. This enabled the possible interaction between attention and cognitive and motor impairment to be assessed.
Methods
The study group comprised 31 children with SBM with shunted hydrocephalus. Twenty children with SB-only formed a closely matched comparison group. Of these, 19 children with SBM and 18 with SB had a full-scale IQ (FSIQ) higher than 70. All had undergone spinal surgery and all children with SBM had been shunted within the first months of life. Between 6 and 15 years of age, the children were assessed on focused and sustained attention, encoding, and distractibility/impulsivity, using both traditional tests and computerized attention tests.
Results
Compared to the SB group, attention scores of children with SBM were lower on the traditional tests, but when interfering cognitive and visual-motor requirements were eliminated using the computerised tasks, most differences disappeared. Furthermore, in contrast to traditional attention tasks, computerized tests showed no significant correlations with IQ-scores and visual-motor skills.
Conclusion
Assessment of attention functions in children with SBM by traditional tests may be misleading, because this paediatric population with complex cerebral malformations has difficulty with the cognitive and visual-motor requirements. To control for these interactions, the use of both traditional and computerized attention tests is recommended.
doi:10.1186/1743-8454-6-6
PMCID: PMC2700079  PMID: 19476646
9.  Results of selective treatment of spina bifida cystica. 
Archives of Disease in Childhood  1981;56(11):822-830.
The results of selective treatment in 120 infants with open spina bifida, admitted between May 1971 and December 1976, were prospectively studied. Seventy-one infants had adverse criteria at birth and were not treated. They all died, more than 90% of them within 6 months of birth. Seven had meningocele. All were treated and survived without handicap. Forty-two infants with myelomeningocele were actively treated. Thirty-six survive at follow-up after 3 to 9 years. The quality of survival is much better than when selection was not used but 8 children have moderate or severe handicaps. The parents were fully informed and consulted at every decision-making step; they fully supported the principle of selection and the action taken on behalf of their own child.
PMCID: PMC1627397  PMID: 6458248
10.  Associations of Ethnicity and SES with IQ and Achievement in Spina Bifida Meningomyelocele 
Journal of Pediatric Psychology  2010;35(9):927-936.
Objectives We evaluated whether the phenotypic pattern of higher verbal than nonverbal IQ in children with spina bifida meningomyelocele (SBM) is consistent across subgroups differing in ethnicity and SES. We also explored the relation of cognitive and academic performance. Methods Non-Hispanic White (n = 153) and Hispanic (n = 80) children with SBM received the Stanford Binet Test of Intelligence-IV and achievement subtests of the Woodcock–Johnson. Parents completed questionnaires assessing the family environment [socioeconomic status (SES), resources, and educational opportunities]. Results Multivariate analysis revealed that Hispanic children with lower SES had lower verbal than nonverbal scores. Hispanic children with higher SES and non-Hispanic White children demonstrated the reverse pattern. Verbal and nonverbal IQ interacted to predict reading and math performance. Conclusions Lower SES is associated with lower verbal IQ in economically disadvantaged Hispanic children with SBM. Academic achievement is largely correlated with verbal IQ, but children with lower verbal IQ may partially compensate with higher nonverbal ability.
doi:10.1093/jpepsy/jsq001
PMCID: PMC2940019  PMID: 20150339
academic functioning; family functioning; race/ethnicity; spina bifida
11.  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
12.  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
13.  Upper limb cerebellar motor function in children with spina bifida 
Purpose
To investigate upper limb cerebellar motor function in children with spina bifida myelomeningocele (SBM) and in typically developing controls.
Methods
Participants with SBM, who had either upper level spinal lesions (n=23) or lower level spinal lesions (n=65), and controls (n=37) completed four upper limb motor function tasks (posture, rebound, limb dysmetria, and diadochokinesis) under four different physical and cognitive challenge conditions. Functional independence was assessed by parental questionnaire.
Results
Fewer SBM participants were able to complete the posture task, and they were less likely than controls to obtain a perfect rebound score. Participants with SBM showed impaired performance in either time, accuracy, or both, on the limb dysmetria and diadochokinesis tasks but responded like controls to physical and cognitive challenges.
Conclusions
Because upper limb motor performance predicted aspects of functional independence, we conclude that upper limb impairments in children with SBM are significant and have direct implications for the level of independent functioning in children with SBM.
doi:10.1007/s00381-009-0991-7
PMCID: PMC3075013  PMID: 19823846
Spina bifida; Myelomeningocele; Upper limb motor function; Cerebellum; Functional independence
14.  Spina bifida and anencephaly: miscarriage as possible cause. 
British Medical Journal  1975;4(5999):743-746.
In two retrospective Liverpool surveys the domestic, family, dietary, and medical environments of the mothers of children affected by anencephaly or spina bifida, or both (ASB) were examined. None seemed to be of more than minor importance and the findings of others were therefore examined to see if they suggested a major factor. The most promising lead came from the hypothesis that ASB is usually due to an interaction between twin fetuses or between a fetus and residual trophoblastic material from the previous normal pregnancy, particularly when this is of the opposite sex to the propositus. The sex finding was not confirmed. It was noted that hydatidiform moles, like children with ASB, were usually female and that moles and choriocarcinomas on the one hand and children with ASB on the other occurred in mothers of similar ages, but were to some extent reciprocal in geographical incidence. This suggested that trophoblastic disease might be a factor common to all three and if so then one would expect the frequency of miscarriages to be higher immediately before than immediately after the birth of an ASB child, since mole and choriocarcinoma seldom follow a normal pregnancy. An analysis of published data confirmed that this was almost certainly so. Hence residual pathological trophoblastic material from either a previous miscarriage or a co-twin may interact unfavourably with another fetus to produce ASB and this may be the primary cause of the condition. The hypothesis is consistent with the observed lack of concordance in twins, the high incidence in females, the maternal age effect, and the greater prevalence in social classes IV and V.
PMCID: PMC1675494  PMID: 764943
15.  Spinal fusion in children with spina bifida: influence on ambulation level and functional abilities 
European Spine Journal  2004;14(4):415-422.
The aim of this study was to determine the influence of spinal fusion on ambulation and functional abilities in children with spina bifida for whom early mobilization was stimulated. Ten children (three males and seven females) with myelomeningocele were prospectively followed. Their mean age at operation was 9.3 years (standard deviation (SD): 2.4). Spinal curvature was measured according to Cobb. Pelvic obliquity and trunk decompensation were measured as well. The ambulation level was scored according to Hoffer, and functional abilities, as well as the amount of caregiver assistance, were documented using the Pediatric Evaluation of Disability Inventory. All patients were assessed before surgery and three times after surgery, with a total follow-up duration of 18 months after surgery. After spinal fusion, magnitude of primary curvature decreased significantly (p=0.002). Pelvic obliquity and trunk decompensation did not change. In spite of less immobilization as compared with other reported experiences, ambulation became difficult in three out of four patients who had been able to ambulate prior to surgery. Functional abilities and amount of caregiver assistance concerning self-care (especially regarding dressing upper and lower body, and self-catheterization) and mobility (especially regarding transfers) showed a nonsignificant trend to deterioration within the first 6 months after surgery, but recovered afterwards. From pre-surgery to 18 months after surgery, functional skills on self-care showed borderline improvement (p=0.07), whereas mobility did not (p=0.2). Mean scores on caregiver assistance improved significantly on self-care (p=0.03), and borderline on mobility (p=0.06), meaning that less caregiver assistance was needed compared with pre-surgery. The complication rate was high (80%). In conclusion, within the first 6 months after spinal fusion, more caregiver assistance is needed in self-care and mobility. It takes about 12 months to recover to pre-surgery level, while small improvement is seen afterwards. After spinal fusion, ambulation often becomes difficult, especially in exercise walkers. These findings are important for health-care professionals, in order to inform and prepare the patients and their parents properly for a planned spinal fusion.
doi:10.1007/s00586-004-0768-3
PMCID: PMC3489207  PMID: 15258836
Myelomeningocele; Surgical treatment; Scoliosis; Spondylodesis; Ambulation level; Functional abilities
16.  Link between the CSF shunt and achievement in adults with spina bifida 
OBJECTIVES—A few enterprising adults with shunt treated spina bifida live independently in the community, have a job in competitive employment, and drive to work in their own car. By contrast others with similar disability but lacking their motivation remain dependent on care and supervision. The aim of this study was to identify events in the history of their shunt which may have influenced their subsequent achievement.
METHODS—Between June 1963 and January 1971 117 babies born in East Anglia with open spina bifida had their backs closed regardless of the severity of their condition. When reviewed in 1997 every case was ascertained. Sixty had died and the 57 survivors had a mean age of 30. These were assigned to two groups: achievers and non-achievers, according to their attainments in independence, employment, and use of a car.
RESULTS—Of the 57 survivors nine had no shunt and eight of these were achievers. All were of normal intelligence (IQ⩾80) and only one was severely disabled. Of the 48 with shunts only 20 were achievers (OR 11.2, 95% confidence interval (95% CI) 1.3-96.8). Lack of achievement in these 48 was associated with revisions of the shunt, particularly when revisions were performed after the age of 2. Sixteen patients had never required a revision and 11 (69%) were achievers; 10 had had revisions only during infancy and five (50%) were achievers; 22 had had revisions after their second birthday and only four (18%) were achievers (p<0.001). Elective revisions were not performed in this cohort and in 75% of patients revisions had been preceded by clear symptoms of raised intracranial pressure.
CONCLUSION—Revisions of the shunt, particularly after the age of 2, are associated with poor long term achievement in adults with spina bifida.


PMCID: PMC1736621  PMID: 10519863
17.  Parents' psychological adjustment in families of children with Spina Bifida: a meta-analysis 
BMC Pediatrics  2005;5:32.
Background
Spina Bifida (SB) is the second most common birth defect worldwide. Since the chances of survival in children with severe SB-forms have increased, medical care has shifted its emphasis from life-saving interventions to fostering the quality of life for these children and their families. Little is known, however, about the impact of SB on family adjustment. Reviewers have struggled to synthesize the few contradictory studies available. In this systematic review a new attempt was made to summarize the findings by using meta-analysis and by delimiting the scope of review to one concept of family adjustment: Parents' psychological adjustment. The questions addressed were: (a) do parents of children with SB have more psychological distress than controls? (b) do mothers and fathers differ? and (c) which factors correlate with variations in psychological adjustment?
Methods
PsycInfo, Medline, and reference lists were scanned. Thirty-three relevant studies were identified of which 15 were eligible for meta-analysis.
Results
SB had a negative medium-large effect on parents' psychological adjustment. The effect was more heterogeneous for mothers than for fathers. In the reviewed studies child factors (age, conduct problems, emotional problems, and mental retardation), parent factors (SES, hope, appraised stress, coping, and parenting competence), family factors (family income, partner relationship, and family climate), and environmental factors (social support) were found to be associated with variations in parents' psychological adjustment.
Conclusion
Meta-analysis proved to be helpful in organizing studies. Clinical implications indicate a need to be especially alert to psychological suffering in mothers of children with SB. Future research should increase sample sizes through multi-center collaborations.
doi:10.1186/1471-2431-5-32
PMCID: PMC1215488  PMID: 16120229
18.  Long-term outcome in open spina bifida. 
BACKGROUND: Doctors need reliable data on outcome in order to help parents faced with difficult decisions about termination of an affected pregnancy or treatment after birth. AIM: To determine survival, health and lifestyle at the mean age of 30 years in a complete cohort of adults born with open spina bifida. DESIGN OF STUDY: Prospective cohort study. PARTICIPANTS: Well-documented cohort of 117 consecutive cases of open spina bifida whose backs were closed non-selectively at birth between 1963 and 1971. METHOD: Survivors (age range = 26 to 33 years) were surveyed by postal questionnaire and telephone interview. The main outcome measures were the health, independence and lifestyle of the survivors in terms of living in the community, driving a car and working in open employment. RESULTS: Ascertainment was 100%. Sixty (51%) had died, mainly the most disabled. Of the 57 survivors, 84% had a cerebrospinal fluid (CSF) shunt, 70% had an IQ of 80 or more, 37% lived independently in the community, 39% drove a car, 30% could walk more than 50 metres and 26% were in open employment. However one-third (19) still needed daily care, three were on respiratory support, two were blind, two had diabetes mellitus, and one was on dialysis. Mortality, disability and achievement reflected the neurological deficit that had been recorded in infancy in terms of sensory level. Attainment and independence were reduced in those who had needed revision of CSF shunt. CONCLUSION: The survivors in this unselected cohort showed a wide range of outcome from apparent normality to very severe disability. This reflected both the extent of their original neurological deficit and events in the history of their CSF shunt.
PMCID: PMC1314678  PMID: 14601340
19.  Degree of genetic homozygosity and distribution of AB0 blood types among patients with spina bifida occulta and spina bifida aperta 
Introduction
Assuming that spina bifida (SB) is a genetically controlled disease, the aim of our study was to evaluate the degree of genetic homozygosity and the distribution of AB0 blood types among patients with SB occulta and SB aperta by the homozygously recessive characteristics (HRC) test.
Material and methods
Our study included an analysis of the presence, distribution and individual combination of 15 selected genetically controlled morpho-physiological traits in a sample of 100 patients with SB (SB occulta N = 50 and SB aperta N = 50) and a control group of individuals (N = 100).
Results
We found a statistically significant difference between the mean values for genetic homozygosity (SB 4.5 ±0.3; control 3.0 ±0.2, p < 0.001) and also differences in the presence of certain individual combinations of such traits. In 12 (80.0%) of the 15 observed characteristics, recessive homozygosity was expressed to a greater degree among the group of SB patients, while for 9 (60.0%) of the traits this level of difference was statistically significant (Σχ 2 = 266.3, p < 0.001). There was no difference in average homozygosity of such genetic markers between groups of SB occulta and SB aperta patients, but the type of individual variation in the two studied groups significantly differed. In the group of patients with SB the frequency of 0 blood group was significantly increased while B blood group was significantly decreased.
Conclusions
Our results clearly show that there is a populational genetic difference in the degree of genetic homozygosity and variability between the group of patients with SB and individuals without clinical manifestations, indicating a possible genetic component in the aetiopathogenesis of spina bifida.
doi:10.5114/aoms.2010.19291
PMCID: PMC3302695  PMID: 22427757
spina bifida; genetic variability; genetic homozygosity
20.  Predisposition to spina bifida: Search for a relation to maternal gastric acid secretion. 
Journal of Medical Genetics  1977;14(5):332-334.
The peak acid output of the stomach in a group of 71 mothers of spina bifida children and in 71 matched controls was estimated indirectly by the serum level of group I pepsinogens. The mean levels did not differ significantly, suggesting that the conjectured teratogen is not specially acid-labile. The variance was significantly higher in index subjects than in controls, but the interpretation of this finding is not clear.
PMCID: PMC1013615  PMID: 563466
21.  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
22.  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
23.  Confirmation of microevolutionary increase in spina bifida occulta among Swiss birth cohorts 
European Spine Journal  2010;20(5):776-780.
Previous studies on the prevalence of spina bifida occulta have indicated a microevolutionary increase in its frequency and possible population differences in the prevalence of the condition. We studied the frequencies of closed and open sacral canals at each sacral level among two birth cohorts in Switzerland. Transverse CT scans and multiplanar reconstruction images of sacra of 95 males and 96 females born in 1940–1950 and 99 males and 94 females born in 1970–1980 in Switzerland were reviewed. We found that individuals born later have significantly more open sacral arches at all sacral levels compared to those born 30–40 years earlier. When results were related to previously published data on Australian cohorts, the trend was the same, but Swiss in both cohorts were less likely to have an open section than Australians at all locations apart from S2. This study confirmed a microevolutionary trend in the opening of sacral canal among two different generations in Switzerland and demonstrated a population difference in the prevalence of spina bifida occulta.
doi:10.1007/s00586-010-1519-2
PMCID: PMC3082669  PMID: 20632043
Sacrum; Opened sacral arches; Secular trend; Anatomical variation
24.  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
25.  Can children with spina bifida and muscular dystrophy participate in their own health status evaluations? 
Background
The outcomes movement has emphasized the importance of the patient in evaluating treatment outcome. However, concern has been raised about the ability of children, particularly those with multisystem disease, to evaluate their disability.
Purpose
To determine whether children with spina bifida and muscular dystrophy and their parents agree when asked about the relative difficulty of daily activities and the severity of symptoms experienced by the child.
Methods
First, a list of symptoms and activity restrictions was generated from the literature, clinicians, and interviews with families with spina bifida and muscular dystrophy. Second, another group of parents and children with spina bifida (with hip dislocation or scoliosis) and with muscular dystrophy (with scoliosis), including those before and after surgery, independently rated the severity and importance of their objective and subjective complaints.
Results
The correlation between parents and their children was high for both objective (median Spearman’s = 0.70; standard deviation [SD] = ±0.17; range = −0.05–1.00) and subjective (median Spearman’s = 0.76; SD = ±0.14; range = 0.13–1.00) complaints, with an overall excellent level of agreement (Kappa = 0.75; 95% confidence interval [CI]: 0.73, 0.76).
Conclusion
Children with spina bifida and muscular dystrophy are capable of understanding and assessing their disability.
doi:10.1007/s11832-010-0248-8
PMCID: PMC2866849  PMID: 21629375
Spina bifida; Muscular dystrophy; Children; Quality of life; Decisions

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