Bone mineral density and body composition in a myelomeningocele children population: effects of walking ability and sport activity.

Myelomeningocele causes serious locomotor disability, osteoporosis and pathologic fractures. The aim of this study was to investigate the relationship between body composition, bone mineral density, walking ability and sport activity in myelomeningocele children. 60 patients aged between 5 and 14 yrs with myelomeningocele (22 ambulatory and 38 non-ambulatory), were studied. Fat mass and fat-free-mass were calculated by anthropometry. The bone mineral density at lumbar and femoral neck were evaluated. Bone mineral density at the lumbar and femoral neck was lower than in the normal population. In the non-ambulaty group, bone mineral density was approximately 1 SD lower than in the ambulatory one (p < 0.01). Fat mass was greater than expected but without significantly differences between walking group (mean 26%) and wheel-chair users (25%). Patients practised sport activity had a better bone mineral density and body fat compared with other patients with the same disability. Patients with myelomeningocele have decreased bone mineral density and are at higher risk of pathologic bone fractures. All subjects showed an excess of fat as percentage of body weight and are shorter than normal children. The measurement of bone mineral density may help to identify those patients at greatest risk of suffering of multiple fractures. Walk ability and sport activity, associated with the development of muscle mass, are important factors in promoting bone and body growth, to reduce the risk of obesity and of pathological fractures.

Assessment of health status in children with spina bifida.

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=0.49; P=0.007) to the physical aspect of the QoL of children. Similarly, the disability was inversely related (r=0.37; P=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=-2.28; P=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.

Risk factors for atherogenesis in children with spina bifida.

INTRODUCTION: Several literature reports have demonstrated that cardiovascular disease is one of the most frequent pathologies in patients with spinal cord injury. AIM: The aim of this study is to reveal changes in the lipid profile in non-obese children with spina bifida/myelomeningocele (MMC). DISCUSSION: The original results demonstrate the necessity of metabolic surveillance in these patients. Daily physical activity must be ensured early on frequency in non-able-bodied children in order to prevent changes in seric lipoproteins.

Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans.

The pathogenic mechanism of neural tube defects may involve genetic polymorphisms and nutritional factors related to homocysteine metabolism. We evaluated the association of polymorphisms of three genes affecting vitamin B12-dependent remethylation of homocysteine, transcobalamin (TC), methionine synthase (MTR) and MTR reductase (MTRR), combined or not with methylenetetrahydrofolate reductase (MTHFR), with the risk of having neural tube defect in 40 children with spina bifida and 58 matched controls from South Italy. MTR 2756 AG/GG, TC 777 CG/GG /MTHFR 677 CC and MTRR 66 GG /MTHFR 677 CC genotypes increased the risk with odds ratios of 2.6 (P=0.046), 2.4 (P=0.028) and 4.5 (P=0.023), respectively. In contrast, MTHFR 677 TT was protective (odds ratio=0.11, P=0.009). In conclusion, genetic determinants affecting the cellular availability or MTRR-dependent reduction of B12 may increase the risk of spina bifida.

Does locomotion improve the cognitive profile of children with meningomyelocele?

OBJECTIVE: This study was conducted to test the hypothesis that locomotion can improve cognitive development in a paediatric population with meningomyelocele (MMC) and hydrocephalus. METHODS: Twenty-nine children with MMC and shunted hydrocephalus were studied. All had motor impairment, but after physiotherapy and training walking was possible in 23 of them (5 autonomously and 18 with an aid), while 6 had recourse to a wheelchair. In all 23 cases neuroimaging (TC scan and/or MRI) was performed to obtain data on the sequelae of perinatal lesions, alterations of the corpus callosum, and the presence or absence of cortical abnormalities and ventricular dilatation. All subjects underwent a neuropsychological assessment including the Wechsler Pre-school and Primary Scale for Infants (WIPPSI) and the Wechsler Intelligence Scale for Children Revisited (WISC-R). Statistical analysis was carried out with the ANOVA test. RESULTS: Even though global I.Q. in these MMC children was within the normal range, the characteristic splitting between verbal I.Q. (VIQ) and performance I.Q. (PIQ) was observed, but the most interesting observation was a significant performance-related difference (P=0.044 and P=0.012) between ambulatory patients (both with and without aids) and those who were dependent on wheelchairs (PIQ: 83-85 vs 63).

Contrast-enhanced gray-scale and color Doppler voiding urosonography versus voiding cystourethrography in the diagnosis and grading of vesicoureteral reflux.

PURPOSE: The purpose of this study was to compare contrast-enhanced gray-scale voiding urosonography (CE-VUS) and contrast-enhanced color Doppler voiding urosonography (CE-CDVUS) with voiding cystourethrography (VCUG) to verify whether the use of color Doppler imaging improves the diagnosis and grading of vesicoureteral reflux (VUR). METHODS: In 74 patients, CE-VUS and CE-CDVUS were compared with VCUG, which was used as the gold standard. SHU 508 A (Levovist) was used as the echo-enhancing contrast agent. VUR was diagnosed if hyperechoic dots or color signals were visualized in the ureter on sonograms. VUR grading was based on morphologic and dynamic findings on CE-VUS and morphologic and color findings on CE-CDVUS. VCUG was performed conventionally, and grading by VCUG was in accordance with the international system of radiographic VUR grading. Patients who voided during 1 examination only (either CE-VUS and CE-CDVUS or VCUG) were excluded from the study. Agreement between the results of CE-VUS and VCUG and between those of CE-CDVUS and VCUG in diagnosing VUR was calculated by kappa statistics. CE-VUS and CE-CDVUS were compared for diagnostic accuracy by the McNemar test. RESULTS: The agreement between CE-VUS and VCUG in predicting VUR was 90% (kappa score, 0.77; p < 0.001). The agreement between CE-CDVUS and VCUG was 96% (kappa score, 0.91; p < 0.001). CE-CDVUS showed a significantly higher diagnostic accuracy than did CE-VUS (96% versus 90% of cases correctly classified; McNemar chi2 = 4; p < 0.05). This was mainly related to the lower number of false-negative results for grade I and grade II VUR when CE-CDVUS was used. CONCLUSIONS: The use of color Doppler imaging significantly improves the accuracy of contrast voiding urosonography in the detection and grading of VUR.

Side-effects of oral or intravesical oxybutynin chloride in children with spina bifida.

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 cysto-urethrography 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.

Glycosaminoglycans: urinary excretion in children with myelomeningocele.

BACKGROUND: The main consequences of neurogenic bladder dysfunction are renal damage related to high intravesical pressure, vesicoureteral reflux (VUR) and urinary tract infections (UTIs). Neurologic impairment, UTIs and VUR are known to be linked with a potential for renal scarring. Of paramount importance as predisposing conditions for UTIs in neurogenic bladder are poor bladder drainage and detrusor-sphincter dyssynergy which cause further abnormalities on the internal bladder surface and, consequently, a bladder wall rich in glycosaminoglycans (GAGs). MATERIALS AND METHODS: The aim of this study is to investigate the correlation between GAG excretion and bladder wall degeneration in 43 patients affected by spina bifida (SB) and 40 healthy age-matched control children. RESULTS: The amounts of GAGs excreted vary greatly in SB patients aged from 0 to 5 years, and values are comparable to those observed in normal controls. They are significantly higher in children over 5 years of age. CONCLUSION: The increased excretion of GAGs in older SB patients is an important parameter in the evaluation of the physiopathological condition of the bladder wall and hence may be considered a possible marker for monitoring the beginning of bladder damage.

Urinary excretion of glycosaminoglycans in patients with isolated nocturnal enuresis or combined with diurnal incontinence.

OBJECTIVE: To determine variations in the amount of glycosaminoglycans (GAGs) excreted by patients with nocturnal enuresis and/or diurnal incontinence. PATIENTS, SUBJECTS AND METHODS: The study included 27 patients (aged 5-15 years) with nocturnal enuresis and/or diurnal incontinence, and 27 healthy age-matched children. Their urinary GAG excretion was assessed over 24 h using the sodium tetraborate-carbazole method. RESULTS: Patients with nocturnal enuresis and/or diurnal incontinence had higher mean values of urinary GAG excretion than age-matched controls. There were significant differences in GAG excretion between those with nocturnal enuresis and diurnal incontinence and those with nocturnal enuresis alone. CONCLUSIONS: GAG excretion in patients with nocturnal enuresis and/or diurnal incontinence was significantly higher than in normal children, suggesting that measuring urinary GAGs may be useful in evaluating physiopathological conditions of the bladder wall, and hence in monitoring potential damage in the bladder mucosa.

The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.

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. 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. 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.

Cryptorchidism associated with meningomyelocele.

OBJECTIVE: The authors studied 75 male infants with meningomyelocele (MMC) to analyse the association with cryptorchidism. METHODS: All infants were diagnosed at birth and surgically corrected after 24-48 h. Testes were classified undescended in accordance with Kaplan. The associated malformations, the exact levels of the lesion (surgical report) and the presence of hydrocephalus and the cremasteric reflex have each been assessed. RESULTS: In these patients a higher incidence of cryptorchidism (14.8%) was found than in the normal population. Lesion level (L2-L3) and absence of cremasteric reflex was higher in children with associated cryptorchidism. Infants with MMC and undescended testes showed no increased incidence of hydrocephalus and sexual hormone levels remained within the normal range. These results suggest that the cremaster muscle could be a major factor involved in testis descent through the inguinal canal. CONCLUSIONS: The authors propose that spinal cord lesion, as well as neurologic dysfunction, is of major importance in the pathophysiology of cryptorchidism in spina bifida.

[Lipid metabolism and atherosclerosis risk in renal diseases in pediatric age]. / Metabolismo lipidico e rischio aterosclerotico nelle patologie renali in età pediatrica.

The pathophysiological events regarding the atherosclerotic processes are present already in early childhood. Various clinical trials confirm tight correlation between dyslipidemia and cardiac and cerebrovascular complications. Over the clinical dyslipidemia genetically determined, various systemic diseases can lead to anomalies of the lipidic metabolism. The determination and analysis of the lipidic pattern is essential during childhood and in particular in patients with renal disease for the increased risk of progressive failure of renal function and for the central role of kidney in lipidic homeostasis. Cardiovascular event is the most important cause of mortality in patients with end-stage renal disease. In children with nephrotic syndrome, renal failure, hemodialysis or after renal transplantation, an increase of the serum values of triglycerides, cholesterol, LDL, VLDL is generally observed. The presence of anomalies in lipidic pattern must be considered during the course of renal disease for preventing the progression of renal damage. Thus, the pharmacological therapy and diet permit to prevent the atherosclerotic events.

Prenatal diagnosis of congenital uropathies.

We discuss data on urinary tract dilatations diagnosed in utero from February 1980 to May 1988. Over 8,900 pregnancies prenatally investigated with ultrasound during second and third trimester in our center. We diagnosed 401 fetal defects (4.5%) with 121 urinary system anomalies (1.35%). In 90 cases (1.01%) urinary tract dilatation was present, representing the most frequent urinary pathology in utero (74.3% of all urinary anomalies). We describe some diagnostic findings as particularly useful in differential diagnosis of functional and obstructive conditions, stressing the possibility and the difficulty of diagnostic accuracy for urinary tract anomalies. The perinatal outcome of each condition is reported.

[Beta 2 microglobulin in the diagnosis of reflux nephropathy in childhood]. / La beta-2 microglobulina nella diagnostica della nefropatia da reflusso in età pediatrica.

The authors determined beta 2 microglobulin plasmatic and urinary levels in 35 children aged 1 month-14 years; 25 of them were suffering from reflux nephropathy. The results of this study indicate that B2 microglobulin concentrations in plasma and urine can be useful parameters to the clinical diagnosis and evaluation of severity of reflux nephropathy. In presence of reduced glomerular filtration rate B2 microglobulin plasmatic levels resulted significantly out of the normal range (mean = 3318; s.d. = 1184) and proportional to the residual functionality degree (p 0.005); blood B2 microglobulin values demonstrated a higher specificity (76.2%) than creatine clearance. Moreover Bt (B2 microglobulin urinary level), Bs (B2 microglobulin excretion per minute corrected to surface area) and Bf (B- microglobulin excretory fraction) were shown to vary (p 0.025) in relation to the presence and the degree of tubulo-interstitial damage. In particular, Bf values progressively impairing with the severity of the nephropathy, were shown to have a statistically good distribution and the best sensibility (95.2%) and specificity (77.8%) in detecting tubular damage.

[Evaluation of renal function in congenital cardiopathies in young children]. / Valutazione della funzionalità renale nelle cardiopatie congenite del piccolo bambino.

The authors evaluated some renal functional parameters of 23 children, the ages ranged 1 to 58 weeks; 8 were affected with cyanotic congenital heart disease and 15 with acyanotic forms. They showed the presence, already in this age, of some affections that are quiet similar to those affecting older children with heart disease. They tried to explain the renal functional deficiency in consideration of the literature data also. The authors formed a functional deficiency greater in the cyanotic forms, proportional to the weight deficiency and the same as that described in dystrophic children. They think that this is due to a first year maturational retardation, because of a low trophism of the body, in particular of the kidney. The authors suggest that these patients have to be fed with appropriate caloric-protein diet.