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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.  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
3.  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
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.  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
6.  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.
PMCID: PMC4146288  PMID: 25206788
nerve regeneration; spina bifida; myelomeningocele; disability evalutatıon; self-care; mobility; muscular energy; child; social function; neural regeneration
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.  A reproductive history of mothers with spina bifida offspring-a new look at old issues 
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.
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.
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.
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.
PMCID: PMC1557536  PMID: 16879755
9.  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
10.  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.
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.
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.
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.
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.
PMCID: PMC3857675  PMID: 23510013
Children; obesity; spina bifida
11.  Marjolin's ulcers: theories, prognostic factors and their peculiarities in spina bifida patients 
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.
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.
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.
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.
PMCID: PMC3014936  PMID: 21129225
12.  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.
PMCID: PMC1915643  PMID: 17479212
NOS3 894G>T; Spina bifida; Transmission disequilibrium test
13.  Parents' psychological adjustment in families of children with Spina Bifida: a meta-analysis 
BMC Pediatrics  2005;5:32.
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?
PsycInfo, Medline, and reference lists were scanned. Thirty-three relevant studies were identified of which 15 were eligible for meta-analysis.
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.
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.
PMCID: PMC1215488  PMID: 16120229
14.  Memory and selective learning in children with spina bifida-myelomeningocele and shunted hydrocephalus: A preliminary study 
Selective learning is the ability to select items of relevance from among less important items. Limited evidence exists regarding the efficiency with which children with spina bifida-myelomeningocele and shunted hydrocephalus (SB/SH) are able to learn information. This report describes initial data related to components of learning and metacognitive skills in children with SB/SH.
Twenty six children with SB/SH and 26 controls (age: 7 – 16 y) with average intelligence, and monolingual English-speaking backgrounds participated in the study. Exclusion criteria for the SB/SH group were: prior history of shunt infection, history of seizure or shunt malfunction within the previous three months, prior diagnoses of attention disorders and/or clinical depression. Children were presented lists of words with equal exemplars each of two distinct semantic categories (e.g. fruits, animals), and told to make as high a score as possible by learning the words. The value of the words was designated by category membership (e.g. animals = low value; fruits = high value). The total number of words learned across three learning trials was used to determine memory span. Selective learning efficiency (SLE) was computed as the efficiency with which items of greater value were selectively learned across three trials.
Children with SB/SH did worse than controls on memory span (P < 0.05). Although SLE was not significantly different between groups, when asked what strategy was used in the selective learning tasks, 65% of the SB/SH children said they tried to remember all words (inefficient strategy). In contrast, 85% of controls said they tried to remember the higher value words – the more efficient strategy.
Success in school is often dependent on the ability to recall important facts selectively and ignore less important information. Children with SB/SH in our study had a poor memory span and were unable to monitor and report an efficient and workable metacognitive strategy required to remember a list of words. Preliminary findings may begin to explain our previous clinical and research findings wherein children with SB/SH often focus on extraneous details, but demonstrate difficulty remembering the main gist of a story/event.
PMCID: PMC1308831  PMID: 16293188
15.  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
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.  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
18.  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.
PMCID: PMC3489207  PMID: 15258836
Myelomeningocele; Surgical treatment; Scoliosis; Spondylodesis; Ambulation level; Functional abilities
19.  Can children with spina bifida and muscular dystrophy participate in their own health status evaluations? 
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.
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.
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.
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).
Children with spina bifida and muscular dystrophy are capable of understanding and assessing their disability.
PMCID: PMC2866849  PMID: 21629375
Spina bifida; Muscular dystrophy; Children; Quality of life; Decisions
20.  Arnold‐Chiari‐II malformation and cognitive functioning in spina bifida 
Spina bifida is a multifaceted neurological condition with complex neuropsychological sequelae. The cognitive outcome in spina bifida has frequently been attributed to the severity of the hydrocephalus. However, because of complex neuropathology, the influence of hydrocephalus alone does not sufficiently explain the deficits in the cognitive profile in spina bifida. To date, little is known of the role of Arnold‐Chiari‐II malformation (ACM) in the cognitive profile of these patients. Aim of the current study is to delineate the specific contribution of the ACM in spina bifida by comparing children with ACM and those without ACM. 46 children between 6 and 15 years of age underwent a neuropsychological assessment covering intelligence and a wide range of cognitive functions, such as visuo‐motor processing, attention, memory, word fluency and speed of information processing. Comparisons were made between patients with ACM (ACM+) and those without ACM (ACM−); all children with ACM+ also had hydrocephalus. Confounding effects of global cognitive impairment were excluded, such that groups were matched on verbal IQ. Because of complex neuropathology, which is inherent to spina bifida, the method applied was based on a comparison of cognitive profiles of the study group with profiles of patients with cerebellar damage and hydrocephalus found in the literature. Impaired visual analysis and synthesis, verbal memory, and verbal fluency, even after correction for global cognitive impairment, were observed in children with ACM. The hypothesis that in addition to impairment in visual analysis and synthesis, which are related to both hydrocephalus and ACM, specific deficiencies in verbal memory and fluency may be attributed to ACM is supported.
PMCID: PMC2077736  PMID: 16690692
21.  The results of Grice Green subtalar arthrodesis of valgus foot in spina bifida 
Indian Journal of Orthopaedics  2012;46(3):333-338.
Valgus foot is a common foot deformity in spina bifida. The most popular operation for the valgus deformity has been the Grice talocalcaneal blocking. It has not been studied primarily in children with spina bifida. We report a prospective series, we present the results of hind foot valgus deformity of children with spina bifida, using Grice talocalcaneal arthrodesis with a tricortical iliac bone graft.
Materials and Methods:
Between May 2000 and December 2003, 21 patients with bilateral (42 feet) valgus deformity of feet underwent surgery. There were 7 males and 14 females. The mean age of patients was 67.7 months (range 50–108 months).
The total number of feet that had nonunion was 11, in 7 of them the grafts were completely reabsorbed and the outcome of all these feet was unsatisfactory. Four feet had partial union of which three had unsatisfactory and one had satisfactory outcome. Sixteen feet had residual valgus deformity at the last followup visit, 10 patients had nonunion, and 6 had inadequate correction. Mean preoperative talocalcaneal and calcaneal pitch angles were 48.5° and 31.9°, respectively, which decreased to 38.5° and 29.1°, respectively, postoperatively. The decrease in talocalcaneal angle and calcaneal pitch was significant between preoperative and postoperative measurements (P<0.05).
Grice subtalar arthrodesis technique is still a valuable option for valgus foot in patients with spina bifida. In this study, we found more encouraging results in older patients.
PMCID: PMC3377146  PMID: 22719122
Grice Green; spina bifida; valgus foot; subtalar arthrodesis
22.  Neuropsychological assessment of attention in children with spina bifida 
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.
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.
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.
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.
PMCID: PMC2700079  PMID: 19476646
23.  Treatment of the neurogenic bladder in spina bifida 
Renal damage and renal failure are among the most severe complications of spina bifida. Over the past decades, a comprehensive treatment strategy has been applied that results in minimal renal scaring. In addition, the majority of patients can be dry for urine by the time they go to primary school. To obtain such results, it is mandatory to treat detrusor overactivity from birth onward, as upper urinary tract changes predominantly start in the first months of life. This means that new patients with spina bifida should be treated from birth by clean intermittent catheterization and pharmacological suppression of detrusor overactivity. Urinary tract infections, when present, need aggressive treatment, and in many patients, permanent prophylaxis is indicated. Later in life, therapy can be tailored to urodynamic findings. Children with paralyzed pelvic floor and hence urinary incontinence are routinely offered surgery around the age of 5 years to become dry. Rectus abdominis sling suspension of the bladder neck is the first-choice procedure, with good to excellent results in both male and female patients. In children with detrusor hyperactivity, detrusorectomy can be performed as an alternative for ileocystoplasty provided there is adequate bladder capacity. Wheelchair-bound patients can manage their bladder more easily with a continent catheterizable stoma on top of the bladder. This stoma provides them extra privacy and diminishes parental burden. Bowel management is done by retrograde or antegrade enema therapy. Concerning sexuality, special attention is needed to address expectations of adolescent patients. Sensibility of the glans penis can be restored by surgery in the majority of patients.
Electronic supplementary material
The online version of this article (doi:10.1007/s00467-008-0780-7) contains supplementary material, which is available to authorized users.
PMCID: PMC2335291  PMID: 18350321
Spina bifida; Surgical treatment; Incontinence; Renal function; Bladder augmentation; Bladder-neck sling; Dryness; Antimuscarinic
24.  Incidence, Prevalence, and Characteristics of Fractures in Children, Adolescents, and Adults With Spina Bifida 
The Journal of Spinal Cord Medicine  2007;30(Suppl 1):S5-S9.
To determine the age-specific incidence, prevalence, and characteristics of fractures in persons with spina bifida.
Year-long historical cross-sectional study.
Two hundred twenty-one consecutive patients aged 2–58 years evaluated in 2003 at a regional referral center. Twenty percent (n=44) were children age 2–10 years; 30% (n=68) were adolescents age 11–18 years; and 50% (n =109) were adults age 19– 58 years. Fifty-five percent (n =121) were female; 64% (n = 141) had shunted hydrocephalus. Fifty-eight percent (n = 129) were community ambulators. Defect levels included 14% (n=31) thoracic; 37% (n=81) mid-lumbar; 35% (n=79) low-lumbar; and 14% (n=30) sacral.
Chart review of 221 consecutive children, adolescents, and adults enrolled in a spina bifida program in Syracuse, New York, was used to determine incidence and prevalence rates. Chi-square was used for subgroup analyses, and linear regression was used to examine independent association of motor level, functional independence (Functional Independence Measures score), body mass index (BMI), shunted hydrocephalus, epilepsy, and/or other congenital anomalies with fractures, controlling for insurance status, race/ethnicity, age, and sex.
Annual incidence of fractures among children, adolescents, and adults was 23/1000; 29/1000; and 18/1000, respectively. Overall prevalence was 200/1000. One in 4 patients with fractures reported multiple fractures. Median age at first fracture was 11 years. Most fractures involved the femur or tibia. Comparisons between adult- and childhood-onset fractures were not significant for difference in sex, BMI, defect level, functional independence, shunted hydrocephalus, epilepsy, or other congenital anomalies. In regression models only defect level RR =1.646 (P =0.019; 95% CI 1.085–2.498) and age RR =1.033 (P =0.036; 95% CI 1.002–1.065) were independently associated with fractures.
Fractures in persons with spina bifida are most common during early adolescence. Environmental modifications may be more effective than pharmacological treatment in reducing the prevalence of fractures in this population.
PMCID: PMC2031989  PMID: 17874679
Spina bifida; Fracture; Child; Adolescence; Adult; Bone loss
25.  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

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