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Study design: Prospective multidimensional study by means of: (1) clinical assessment, (2) parental-administered questionnaire for general health (CHQ-PF50), and (3) standardised disability measurements. Objectives: To assess the health-related quality of life (QoL) and disability in children with spina bifida (SB) and to correlate them with the clinical picture and our previous study on adolescents with SB. Setting: SB Centre at a University Hospital in Italy. Methods: A total of 29 consecutive children with SB (mean age 11.4, range 4-14 years) were evaluated through Child Health Questionnaire Parental Form (CHQ-PF50), the FIM instrument, and the Barthel index. Results: Disability was inversely related only (r ¼ 0.49; P ¼ 0.007) to the physical aspect of the QoL of children. Similarly, the disability was inversely related (r ¼ 0.37; P ¼ 0.005) to the emotional aspect of QoL of patient's parents. Unexpectedly, for the mental aspects of QoL of patients, major disability was not associated with higher psychological distress and severe role disability due to emotional problems. At clinical examination, findings especially for continence and number of catheterisations were usually related to deterioration of physical aspects of QoL (r ¼ À2.28; P ¼ 0.02) in children. Conclusion: The multiperspective assessment showed that there is a linear inverse correlation between disability and QoL in children with SB only for physical aspects. Conversely, there is linear inverse correlation between disability and QoL in patient's parents regarding only emotional aspects. Moreover, this study provided useful information for clinical practice underlining that continence problems are those that most affect QoL in children with SB and their parents.Spinal Cord (2005) 43, 230-235.

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Objective-To estimate the risk for spina bifida associated with the common mutation C677T of the MTHFR gene in a country with a relatively low prevalence of NTDs.Design-Case-control study. Subjects-Cases: 203 living patients affected with spina bifida (173 myelomeningocele and 30 lipomeningocele); controls: 583 subjects (306 young adults and 277 unselected newborns) from northern and central-southern Italy. Setting-Cases: three spina bifida centres; young adult controls: DNA banks; newborn controls: regional neonatal screening centres. Main outcome measures-Prevalence of the C677T genotypes in cases and controls by place of birth; odds ratios for spina bifida and estimated attributable fraction. Results-The prevalence of T/T, T/C, and C/C genotype was 16.6%, 53.7%, and 29.7% in controls and 25.6%, 43.8%, and 30.6% in cases, respectively. We found no differences between type of defect or place of birth. The odds ratio for spina bifida associated with the T/T genotype v C/C plus T/C was 1.73 (95% CI 1.15, 2.59) and the corresponding attributable fraction was 10.8%. No increased risk was found for heterozygous patients (OR=0.79, 95% CI 0.53-1.18). Conclusion-This study, as well as the meta-analysis we updated, shows that homozygosity for the MTHFR C677T mutation is a moderate risk factor in Europe, and even in Italy where there is a relatively low prevalence of spina bifida. The estimated attributable fraction associated with this risk factor explains only a small proportion of cases preventable by periconceptional folic acid supplementation. Thus, other genes involved in folate-homocysteine metabolism, their interaction, and the interaction between genetic and environmental factors should be investigated further.

Objective To evaluate the incidence of side-effects of oral and intravesical oxybutynin chloride in children with meningomyelocele (MMC) and a neurogenic bladder. Patients and methods The study comprised 225 children with a neurogenic bladder from MMC who were evaluated with urodynamic testing and voiding cystourethrography to identify those at high risk of upper tract damage. In all, 101 children (mean age 4.2 years, range 0.25-10) had unco-ordinated detrusor-sphincter function and low compliance; they were treated with either oral or intravesical oxybutynin and clean intermittent catheterization. Results Of the 101 patients, 67 were treated with oral oxybutynin; in 11 the treatment was discontinued because of the side-effects. The other 34 patients used both clean intermittent catheterization and intravesical oxybutynin. In this group there were side-effects in six patients, including drowsiness, hallucinations and cognitive changes. Conclusions Oral and intravesical oxybutynin is effective for managing neurogenic bladder dysfunction, but intravesical administration is safer and better tolerated than oral oxybutynin in the treatment of children with MMC. However, adverse effects such as cognitive impairment can also occur in children treated with intravesical oxybutynin and these patients must be closely monitored because these effects may differ from those with oral administration.