Disability in Children with Myelomeningocele A Nordic Study

ABSTRACT. This study was carried out to evaluate the medical impairments and disability among 527 children with myelomeningocele living in four Nordic countries. The information was extracted from questionnaires and data based on case records. The level of intellectual functioning was fairly high with 76% within normal range (IQ>90). Shunt operations were performed in 68% of the children and 1/3 had had four or more shunt revisions. Twenty-three per cent walked without support. Bladder incontinence was found in 60% of the children whereas 4% were entirely continent. Intermittent catheterisation was used in 36% with higher frequency among girls (48%) than boys (24%). We found a higher incidence of bacteriuria among those who used catheterisation than among those who used manual compression. Bowel control was experienced by 112 (21%) of the children. The overall disability is classified according to Lorber's 5-graded handicap scale and Lagergren's 3-graded scale. According to Lagergren's scale, 70% suffered from severe overall disability.     

Nordic children with myelomeningocele. Parents' assessments of the handicap and physicians' classifications of the disabilities

The differences between parents' assessments of their child's handicap and professionals' assessment of disabilities were studied in 486 Nordic children with myelomeningocele aged 4–18 years. Although disability and handicap are conceptually different, agreement between the parents' assessments of the handicap and the degree of disability according to Lorber's classification was found in 51% of cases. The parents' assessments showed close agreement with overall disability according to Lagergren's method in 45% of cases. The factors most strongly associated with parental assessment of the handicap were the child's motor disability, intellectual functioning, faecal and urinary incontinence and the parents' inclination to feel inadequate with respect to the child's needs. Data from professional assessment of disabilities alone are of limited value in understanding the impact of disabilities on the daily life of a child.     

Spinal dysraphic anomalies; classification,presentation and management

Spinal dysraphism comprises an array of congenital anomalies of spinal cord development. Each of the dysraphic disorders can result in neurological, orthopaedic and urological dysfunction. This potentially confusing array of conditions is best understood from the embryological perspective. Whilst not all of these conditions are managed in the same way similar principles govern the initial investigation, multidisciplinary evaluation and long term follow up of these cases.     

Measured and predicted total body water in children with myelomeningocele

OBJECTIVE: Children with myelomeningocele (MMC) have an altered body composition and an atypical distribution of total body water (TBW). The aim of the present study was to determine the accuracy of current predictive equations, based on bioelectrical impedance analysis (BIA), in determining TBW when compared with measured TBW using deuterium dilution. METHODS: Fourteen children with MMC were measured for whole body BIA and TBW (using deuterium dilution and the Plateau method). Total body water was predicted using equations based on the resistance and characteristic frequency from BIA measurements and heights of subjects. RESULTS: The mean measured TBW was 15.46 +/- 8.28 L and the mean predictions for TBW using equations based on the resistance and characteristic frequency from BIA measurements and heights of subjects were 18.29 +/- 8.41 L, 17.72 +/- 11.42 L and 12.51 +/- 7.59 L, respectively. The best correlation was found using characteristic frequency. The limits of agreement between measured and predicted TBW values using Bland-Altman analysis were large. CONCLUSIONS: The present study suggests that the prediction of TBW in children with MMC can be made accurately using the equation of Cornish et al. based on BIA measurements of characteristic frequency.     

Neurosurgical management of spasticity

Spina Bifida aperta is getting less common. All paediatricians know this. With the increasing availability of MRI more spina bifida occulta is being diagnosed. This article is to highlight the reader the current neurosurgical management of the different types of spina bifida. It is to guide the reader so that late presentations can be avoided and early intervention can be offered to protect bladder, bowel and motor function. It will not talk about hydrocephalus.     

Adaptation of reaching movements in children and young adults with myelomeningocele

AIM: To investigate the ability to adapt reaching movements to new visuomotor gain conditions in subjects with myelomeningocele (MMC) and subjects without disabilities. In addition, differences in movement error within the MMC group were investigated. METHODS: Thirty subjects with myelomeningocele, 9-19 y, and 30 subjects without disabilities were included in the study. Data were collected with a digitizing tablet linked to a computer. The subjects made reaching movements towards three targets at different distances displayed on the computer screen, and movements were carried out under two different gain conditions-a base condition and an altered condition. Adaptation was quantified from the extent error and expressed in percentage of the target distances. For statistical analysis, ANOVA and t-tests were used. RESULTS: Under the base condition, no statistically significant difference between the groups was found, but after the first gain change, the MMC group evinced larger percentage error compared to the control group (p = 0.005). Analysis showed that the subjects in the MMC group did not fully adapt their movements under the altered condition after several trials of practice, but in the control group movements were rapidly adapted to the new gain. Subjects with early and severe symptoms of brainstem dysfunction showed a dramatic increase in error variability under the altered condition, while subjects who had shunt-treated hydrocephalus did not have larger percentage error compared to the others. CONCLUSION: Motor adaptation of reaching movements was impaired in subjects with MMC, but short-term motor learning did also occur in the MMC group.     

Factors of significance for mobility in children with myelomeningocele

AIM: To investigate neurological impairment, hand function and cognitive function in a group of children with myelomeningocele, in order to identify factors of significance for independent mobility and the physical assistance required for mobility in daily activities. METHODS: The study material comprised 32 children, aged 6-11 y and without mental retardation. Mobility was assessed with the Pediatric Evaluation of Disability Inventory, scored as caregiver assistance. Statistical differences and correlations between the caregiver assistance scores and the selected variables were analysed. RESULTS: Nine children scored independent mobility. The independent children had better hand coordination (p = 0.004) and walking ability (p = 0.01), lower cele levels (p = 0.011), higher performance IQ (p = 0.027), better visuospatial function (p = 0.029) and executive function (p = 0.037) than the others. The caregiver assistance scores were lower for both the children with early and severe symptoms of brainstem dysfunction and the children with scoliosis. Statistically significant correlations were found between the need for caregiver assistance and reduced walking ability, high cele level, poor hand strength and coordination, visuospatial function, executive function and performance IQ. In the subgroup of children who needed a wheelchair or walking aids, hand strength was the only variable significantly correlated with caregiver assistance (r(s) = 0.703, p = 0.000). CONCLUSION: Most of the children were dependent on others in daily activities. Impaired hand function and cognitive function were significant for mobility, and this has implications for the therapy programme in children with myelomeningocele.     

Intrauterine surgery in myelomeningocele

Intrauterine surgery for repair of fetal myelomeningocele has been performed since 1994. Open repair through a hysterotomy has been performed since 1997. Although much has been published about diagnosis, counseling, case selection, pre-, intra-, and postoperative management, delivery and long-term sequelae for both mother and baby, and associated ethical issues, several questions have yet to be openly discussed in a public forum.     

C677T mutation in methylenetetrahydrofolate reductase gene and neural tube defects: Should Japanese women undergo gene screening before pregnancy?

We analyzed the role of maternal C677T mutation in methylenetetrahydrofolate reductase (MTHFR) gene on spina bifida development in newborns. A total of 115 mothers who had given birth to a spina bifida child (SB mothers) gave 10 mL of blood together with written informed consent. The genotype distribution of C677T mutation was assessed and compared with that of the 4517 control individuals. The prevalence of the homozygous genotype (TT) among SB mothers was not significantly different from that among the controls (odds ratio [OR] = 0.65; 95% confidence interval [CI] = 0.31–1.25; P = 0.182), suggesting that MTHFR 677TT genotype in Japan is not associated with spina bifida development in newborns. The T allele frequency was not increased in SB mothers (34.8%) as compared to that of the control individuals (38.2%). Further, the internationally reported association between the two groups was found to be similar in all 15 countries studied except the Netherlands, where the TT genotype was found to be a genetic risk factor for spina bifida. For the prevention of affected pregnancy every woman planning to conceive has to take folic acid supplements 400 μg a day and the government is asked to take action in implementing food fortification with folic acid in the near future. In conclusion, it is not necessary for Japanese women to undergo genetic screening C677T mutation of the MTHFR gene as a predictive marker for spina bifida prior to pregnancy, because the TT genotype is not a risk factor for having an affected infant.     

Early Bladder Training in Patients with Spina Bifida

ABSTRACT. A bladder training programme was applied in 43 children with myelomeningocele and complete urinary incontinence. In one group the training was commenced before the age of 3 years (mean age 1.3 years) and in another group between the ages of 3 and 13 years (mean age 5.8 years). The results as regards continence were better in the group with an early start of training, girls showing significantly better results than boys. Pharmacotherapy and cautious urethral surgery were valuable complements in selected cases. Vesico-ureteral reflux disappeared during treatment in 60 % of the patients. Patients not showing significant improvement should be candidates for clean intermittent catheterization and/or cholinergic drugs, if detrusor hyperactivity is present.     

Tap-water enema for children with myelomeningocele and neurogenic bowel dysfunction

AIM: To evaluate the outcome of transrectal irrigation (TRI) using clean tap water without salt in children with myelomeningocele and neurogenic bowel problems. METHODS: 40 children (21 boys and 19 girls; aged 10 mo to 11 y) with myelomeningocele and neurogenic bowel dysfunction were treated with TRI given by a stoma cone irrigation set daily or every second day. A questionnaire on the effects on faecal incontinence, constipation and self-management was completed by the parents, 4 mo-8 y (median 1.5 y) after start. Effects on rectal volume, anal sphincter pressure and plasma sodium were evaluated before and after the start of irrigation. RESULTS: At follow-up, 35 children remained on TRI, four had received appendicostomy, while one defecated normally. For all children but five (35/40; 85%) the procedure worked satisfactorily, but a majority found the procedure very time consuming and only one child was able to perform it independently. All children were free of constipation; most (35/40) were also anal continent. Rectal volume and anal sphincter pressure improved, while plasma sodium values remained within the normal range. CONCLUSION: Transrectal irrigation with tap water is a safe method to resolve constipation and faecal incontinence in children with myelomeningocele and neurogenic bowel dysfunction, but it does not help children to independence at the toilet.     

The influence of scoliosis brace treatment on function in children with myelomeningocele

The influence of Boston brace treatment on the functional and motor ability of children with scoliosis secondary to myelomeningocele was studied in a consecutive series of 20 children of 5-19 years of age. Motor activity, ADL function and ambulation ability were assessed before brace treatment and then annually during the treatment period, which lasted an average of 2.7 years (range 0.6-8.7 years). Thirteen children were followed-up one year after braces were removed. The effect of brace treatment on the scoliosis was favourable as is reported elsewhere. The children's motor activity and ADL function remained unchanged during brace treatment, but brace wearing was accompanied by a decreased ambulatory skill. This may partly be explained by a slight increase of flexion contractures of the hips during treatment. Patients with useful ambulation ability kept this ability up even during brace treatment. Considering the favourable effect of brace treatment on the scoliosis curve and the few complications encountered, we recommend brace treatment for scoliosis in patients with myelomeningocele.     

Longitudinal study on latex sensitization in children with spina bifida

The course of latex sensitization is rarely documented, and only a few reports about the influence of prophylaxis in the occupational environment have been published concerning health care workers. Therefore we did a follow-up study in the high risk group of patients with spina bifida and evaluated the efficacy of latex prophylaxis. For this purpose we measured IgE antibodies (FEIA) against latex and inhalative allergens in the sera of 67 patients with spina bifida and reevaluated them 0.6 to 4.1 years later, having instructed the patients about prophylactic measures and established a latex-free environment for surgery of all spina bifida patients in our hospital. 37% of the patients did not develop latex antibodies during the follow-up period, 27% showed decreasing levels of antibodies (12% to non-detectable levels), 19% had an increase in latex sensitization (6% newly sensitized), and 9% showed no change in levels of latex antibodies. From our data it may be concluded that surgery without strict latex prophylaxis is the main cause of new sensitization and worsening of preexisting latex antibody levels. Mild sensitization can be reduced by prophylactic measurements to non-detectable antibody levels. With consistent prophylaxis, even symptomatic patients can be operated without risk of allergic complications or increasing antibodies.     

Increased incidence of spina bifida occulta in fluorosis prone areas

Spina bifida, a congenital deformity of the posterior wall of vertebrae of the spine, is a midline defect of skin, vertebral arches and neural tube, usually in the lumbosacral region. Its incidence is reported to be 0.2 to 0.4 per 1000 live births. Various hypotheses have been put forward as etiological factors for spina bifida including consumption of potato affected by blight and hardness of drinking water but these have not been proven. Two groups of 50 randomly chosen children were established. The study group consisted of children aged 5 to 12 years, weighing 15 to 30 kg, consuming fluoride rich drinking water (4.5 and 8.5 ppm fluoride; WHO permissible limit is 1.5 ppm fluoride), and manifesting either clinical, dental and/or skeletal fluorosis. The control group consisted of age and weight-matched children, consuming less than or equal to 1.5 ppm fluoride in drinking water and not showing any evidence of fluoride toxicity. These children were evaluated for antenatal history, general clinical examination (especially for dimples, tufts of hair, haemangioma on skin throughout the length of spine), other congenital abnormalities, evidence of fluoride toxicity, biochemical estimation for fluoride levels in blood and serum and by skiagrams of the spine to examine for the presence of spina bifida occulta. A total of 22 (44%) of the 50 children in group A, the study group, and 6 (12%) of the 50 children in group B, the control group, revealed spina bifida occulta in the lumbosacral region. The proportion of children with spina bifida occulta in these fluoride rich areas was thus 44%. Since this defect occurs during the antenatal period, these observations indicate that an association may exist between spina bifida occulta and high fluoride intake during the antenatal period.     

Comparison of three immunoassays for diagnosing sensitization to latex in children with spina bifida

As natural rubber latex (latex) has become more widespread in our environment, physicians have become increasingly aware of the problem of possible allergic reactions. Many fatal and near-fatal incidents have been reported (mainly during surgery) (1—3) and data has been published on groups frequently exposed to latex, such as patients with spina bifida (4—9), healthcare professionals (10—12) and occupationally exposed persons (13). The incidence of latex allergy in children seems to be increasing (14). Tests are therefore needed which can reliably detect sensitization to latex. Our aim was to compare the diagnostic accuracy of three commercial immunoassays for measuring specific IgE in serum to latex.     

胎儿外科技术在先天性脑脊髓脊膜膨出的应用现状和展望

先天性脊髓脊膜膨出是胎儿先天性中枢神经系统畸形常见的类型,生后即使不予任何干预,胎儿多数都能健康的活着生下来,但其伴随的神经功能障碍、致残率十分严重.“二次打击”假说的提出,开启了人类胎儿外科先天性脊髓脊膜膨出的策略性研究.大量临床试验及动物模型观察表明,胎儿外科干预可挽救部分患儿的神经功能,在19～25周之间较为理想.2003-2010年美国国立卫生研究院(National Institutes of Health,NIH)发起多中心前瞻性随机临床试验(management of myelomeningocele study,MOMS),在符合研究标准的人群进行胎儿外科手术,结果表明产前手术组与生后手术组相比生后1年死亡率降低、脑室-腹腔分流率降低、生后30个月贝利精神评估较高、独立行走能力较好,不利之处为胎膜破裂、羊水过少、早产发生率高,且易造成子宫裂开、子宫瘢痕形成等,可能影响日后生育功能,试验中未发生母亲致死事件.目前动物实验和临床研究结果都表明其疗效良好,具有可行性,但随即产生的各种并发症、早产等问题是未来需研究探讨的方向.     

The prevalence of anencephalus and spina bifida in New Zealand

Despite the plethora of epidemiological research conducted on anencephalus and spina bifida, few of the studies have used multiple source case ascertainment and controlled for the effect of possible confounding factors. This paper reports the results from a study of the relationships between various risk factors and the prevalence of anencephalus and spina bifida in New Zealand during 1978-82, using case data obtained from multiple sources and a national cohort of births as the denominator. The rates of anencephalus and spina bifida in New Zealand were 0.78/1000 and 0.94/1000 total births, respectively. The rate of a neural tube defect (NTD) birth for Maori parents was less than for their non-Maori counterparts. Paternal ethnic origin and maternal ethnic origin made similar contributions to the model of anencephalus rates, but the results suggest that paternal ethnic origin is a less important risk factor in the prevalence of spina bifida. The rate of both NTD was high among female infants and low among births to women born in countries other than the British Isles and New Zealand. The rate of anencephalus showed a distinct north-south gradient, but there was no evidence of effects for maternal or paternal age, parity, urban-rural place of residence, nuptiality, social class or season of birth in the prevalence of either NTD in New Zealand.