Nutrition, metabolic syndrome, and obesity: Guidelines for the care of people with spina bifida.
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ABSTRACT:
SUBMITTER: McPherson AC
PROVIDER: S-EPMC7838992 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Publications
Nutrition, metabolic syndrome, and obesity: Guidelines for the care of people with spina bifida.
McPherson Amy C AC Chen Lorry L O'Neil Joseph J Vanderbom Kerri A KA
Journal of pediatric rehabilitation medicine 20200101 4
Nutritional challenges and a lack of activity can lead to health problems across the lifespan for people with spina bifida. Children and adults with spina bifida are also at greater risk of being classified as overweight or obese compared to their peers without the condition. Therefore, early recognition of nutrition problems, weight management counseling, and timely referrals for evaluation and management of diet and activity can help those with spina bifida and their families achieve a healthy ...[more]
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Project description:Spina bifida is a birth defect in which the vertebral column is open, often with spinal cord involvement. The most clinically significant subtype is myelomeningocele (open spina bifida), which is a condition characterized by failure of the lumbosacral spinal neural tube to close during embryonic development. The exposed neural tissue degenerates in utero, resulting in neurological deficit that varies with the level of the lesion. Occurring in approximately 1 per 1,000 births worldwide, myelomeningocele is one of the most common congenital malformations, but its cause is largely unknown. The genetic component is estimated at 60-70%, but few causative genes have been identified to date, despite much information from mouse models. Non-genetic maternal risk factors include reduced folate intake, anticonvulsant therapy, diabetes mellitus and obesity. Primary prevention by periconceptional supplementation with folic acid has been demonstrated in clinical trials, leading to food fortification programmes in many countries. Prenatal diagnosis is achieved by ultrasonography, enabling women to seek termination of pregnancy. Individuals who survive to birth have their lesions closed surgically, with subsequent management of associated defects, including the Chiari II brain malformation, hydrocephalus, and urological and orthopaedic sequelae. Fetal surgical repair of myelomeningocele has been associated with improved early neurological outcome compared with postnatal operation. Myelomeningocele affects quality of life during childhood, adolescence and adulthood, posing a challenge for individuals, families and society as a whole. For an illustrated summary of this Primer, visit: http://go.nature.com/fK9XNa.
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Project description:Genome wide DNA methylation profiling of 10 patients with myelomeningocele (MMC) and 6 healthy controls
2016-10-03 | GSE81846 | GEO
Project description:Spina bifida (SB) is a neurogenetic disorder with a complex etiology that involves genetic and environmental factors. SB can occur in two major forms of open SB or SB aperta and closed SB or SB occulta. Myelomeningocele (MMC), the most common neural tube defects (NTDs), occurs in approximately 1 in 1,000 births. Considering non-genetic factors, diminished folate status is the best-known factor influencing NTD risk. The methylenetetrahydrofolate reductase (MTHFR) gene has been implicated as a risk factor for NTDs. The primary disorder in the pathogenesis of MMC is failed neural tube closure in the embryonic spinal region. The clinical manifestation of SB depends on clinical type and severity. SB can be detected in the second trimester using ultrasound which will reveal specific cranial signs. The management of MMC traditionally involves surgery within 48 h of birth. Prenatal repair of MMC is recommended for fetuses who meet maternal and fetal Management of Myelomeningocele Study (MOMS) specified criteria. Urological manifestations of SB include urinary incontinence, urolithiasis, sexual dysfunction, renal dysfunction, and urinary tract infection. Renal failure is among the most severe complications of SB. The most important role of the urologist is the management of neurogenic bladder. Medical management with clean intermittent catheterization and anticholinergic treatment is generally considered the gold standard of therapy. However, when this therapy fails surgical reconstruction become the only remaining option. This review will summarize the pathogenesis, risk factors, genetic contribution, diagnostic test, and management of SB. Lastly, the urologic outcomes and therapies are reviewed.
| S-EPMC7882087 | biostudies-literature
Project description:Diagnosis of obesity using traditional body mass index (BMI) using length may not be a reliable indicator of body composition in spina bifida (SB). We examine traditional and surrogate measures of adiposity in adults with SB, correlated with activity, metabolic disease, attitudes towards exercise and quality of life.Adult subjects with SB underwent obesity classification using BMI by length and arm span, abdominal girth and percent trunk fat (TF) on dual energy X-ray absorptiometry (DXA). Quality of life measures, activity level and metabolic laboratory values were also reviewed.Among eighteen subjects (6 male, 12 female), median age was 26.5 (range 19-37) years, with level of lesion 16.7% ?L2, 61.1% L3-4, and 22.2% ?L5, respectively. Median weight was 71.8 (IQR 62.4, 85.8) kg, similar between sexes (P?=?0.66). With median length of 152.0 (IQR 141.8, 163.3) cm, median conventional BMI was 29.4?m/kg2, with 7 (43.8%) subjects with BMI >30. Median BMI by arm span was 30.2?m/kg2, abdominal girth of 105.5?cm, and TF 45.7%. More subjects were classified as obese using alternate measures, with 9 (56.3%) by arm span, 14 (82.4%) by abdominal girth and 15 (83.3%) by TF (P?=?0.008). Reclassification of obesity from conventional BMI was significant when using TF (P?=?0.03). No difference in quality of life measures, activity level and metabolic abnormalities was demonstrated between obese and non-obese subjects.Conventional determination of obesity using BMI by length is an insensitive marker in adults with SB. Adults with SB are more often classified as obese using TF by DXA.
| S-EPMC5810807 | biostudies-other
Project description:Spina bifida has been reported to co-occur with pediatric cancer, but comprehensive evaluations remained elusive. We investigated this co-occurrence in two large, population-based studies in Taiwan (N = 1900 cancer cases, 2,077,137 controls) and Denmark (N = 5508 cases, 137,700 controls). Analyses in Denmark were restricted to the period before prenatal diagnostics became available (2004) and pregnancy terminations of fetuses with birth defects became more common. Using national patient and cancer registries, we linked spina bifida and cancer diagnoses among cases and non-cases. The risk of spina bifida among all cancer cases was increased and similar in Denmark [odds ratio (OR)=8.4, 95% confidence interval (CI) 5.1-13.8] and Taiwan (OR = 8.5, 95% CI 4.0-17.8), particularly for central nervous system (CNS) tumors (Denmark: OR = 16.3, 95% CI 8.1-33.0; Taiwan: OR = 26.6, 95% CI 8.5, 83.1), including benign CNS tumors (Denmark: OR = 41.5, 95% CI 21.2, 81.4). These findings suggest the need for comprehensive investigation of shared risk factors in the link between spina bifida and pediatric cancer.
| S-EPMC7577564 | biostudies-literature
Project description:Individuals with spina bifida are typically followed closely as outpatients by multidisciplinary teams. However, emergent care of these patients is not well defined. We describe patterns of emergent care in patients with spina bifida and healthy controls.We reviewed Nationwide Emergency Department Sample data from 2006 to 2010. Subjects without spina bifida (controls) were selected from the sample using stratified random sampling and matched to each case by age, gender and treatment year at a 1:4 ratio. Missing emergency department charges were estimated by multiple imputation. Statistical analyses were performed to compare patterns of care among emergency department visits and charges.A total of 226,709 patients with spina bifida and 888,774 controls were identified. Mean age was 28.2 years, with 34.6% of patients being younger than 21. Patients with spina bifida were more likely than controls to have public insurance (63.7% vs 35.4%, p <0.001) and to be admitted to the hospital from the emergency department (37.0% vs 9.2%, p <0.001). Urinary tract infections were the single most common acute diagnosis in patients with spina bifida seen emergently (OR 8.7, p <0.001), followed by neurological issues (OR 2.0, p <0.001). Urological issues were responsible for 34% of total emergency department charges. Mean charges per encounter were significantly higher in spina bifida cases vs controls ($2,102 vs $1,650, p <0.001), as were overall charges for patients subsequently admitted from emergent care ($36,356 vs $29,498, p <0.001).Compared to controls, patients with spina bifida presenting emergently are more likely to have urological or neurosurgical problems, to undergo urological or neurosurgical procedures, to be admitted from the emergency department and to incur higher associated charges.
| S-EPMC4379115 | biostudies-literature
Project description:PURPOSE:Achieving bladder continence in individuals with spina bifida is a lifetime management goal. We investigated bladder continence status through time and factors associated with this status in patients with spina bifida. MATERIALS AND METHODS:We used National Spina Bifida Patient Registry data collected from 2009 through 2015 and applied generalized estimating equation models to analyze factors associated with bladder continence status. RESULTS:This analysis included 5,250 participants with spina bifida in a large, multi-institutional patient registry who accounted for 12,740 annual clinic visit records during the study period. At last followup mean age was 16.6 years, 22.4% of participants had undergone bladder continence surgery, 92.6% used some form of bladder management and 45.8% reported bladder continence. In a multivariable regression model the likelihood of bladder continence was significantly greater in those who were older, were female, were nonHispanic white, had a nonmyelomeningocele diagnosis, had a lower level of lesion, had a higher mobility level and had private insurance. Continence surgery history and current management were also associated with continence independent of all other factors (adjusted OR and 95% CI 1.9, 1.7-2.1 and 3.8, 3.2-4.6, respectively). The association between bladder management and continence was stronger for those with a myelomeningocele diagnosis (adjusted OR 4.6) than with nonmyelomeningocele (adjusted OR 2.8). CONCLUSIONS:In addition to demographic, social and clinical factors, surgical intervention and bladder management are significantly and independently associated with bladder continence status in individuals with spina bifida. The association between bladder management and continence is stronger in those with myelomeningocele.
| S-EPMC5948157 | biostudies-literature
Project description:BackgroundA National Spina Bifida Patient Registry (NSBPR) was begun in 2009 to help understand the natural history of spina bifida (SB) and the effects of treatments provided by SB clinics. We used the NSBPR to explore the relationship of sociodemographic characteristics with SB outcomes.MethodsUsing NSBPR data collected in 2009 to 2012, we examined the unadjusted association between demographic characteristics and 4 SB outcomes: bowel continence, bladder continence, mobility, and presence of pressure sores. We then developed multivariable logistic models to explore these relationships while controlling for SB clinic, SB type, and level of lesion.ResultsData were available on 2054 patients <22 years of age from 10 SB clinics. In the multivariable models, older age groups were more likely to have continence and pressure sores and less likely to be community ambulatory. Males and patients without private insurance were less likely to be continent and community ambulatory. Non-Hispanic blacks were less likely to be continent. Level of lesion was associated with all outcomes; SB type was associated with all but pressure sores; and all outcomes except community ambulation showed significant variation across clinic sites.ConclusionsSociodemographic attributes are associated with SB outcomes. In particular, males, non-Hispanic blacks, and patients without private insurance have less favorable outcomes, and age has an impact as well. These characteristics need to be considered by clinicians who care for this patient population and factored into case-mix adjustment when evaluating variation in clinical and functional outcomes among different SB clinics.
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Project description:Key contentSpina bifida is a congenital neurological condition with lifelong physical and mental effects.Open fetal repair of the spinal lesion has been shown to improve hindbrain herniation, ventriculoperitoneal shunting, independent mobility and bladder outcomes for the child and, despite an increased risk of prematurity, does not seem to increase the risk of neurodevelopmental impairment.Open fetal surgery is associated with maternal morbidity.Surgery at our institution is offered and performed according to internationally agreed criteria and protocols.Further evidence regarding long-term outcomes, fetoscopic repair and alternative techniques is awaited.Learning objectivesTo understand the clinical effects, potential prevention and prenatal diagnosis of spina bifida.To understand the rationale and evidence supporting the benefits and risks of fetal repair of open spina bifida.To understand the criteria defining those who are likely to benefit from fetal surgery.Ethical issuesThe concept of the fetus as a patient, and issues surrounding fetal death or the need for resuscitation during fetal surgery.The associated maternal morbidity in a procedure performed solely for the benefit of the fetus/child.The financial implications of new surgical treatments.
| S-EPMC6876677 | biostudies-literature
Project description:BACKGROUND:Aim of our study was to evaluate degree of genetic homozygosity in male and female gender of spina bifida (SB) occulta and SB aperta patients. PATIENTS AND METHODS:We evaluated 95 patients with SB occulta and 51 with SB aperta. Degree of genetic homozygosity was evaluated by direct observation of 15 homozygously recessive characteristics (HRC) by HRC-test separately for SB occulta and SB aperta participants. Additionally 370 individuals without SB from Serbia were randomly selected and evaluated as control group. Male and female gender was separately evaluated for assessing degree of genetic homozygosity. RESULTS:There was no significant difference in mean values of HRC between male and female gender in control group (male gender -3.9±1.2, female gender -4.0±1.4, z=0.39; p>0.05), SB occulta (male gender -4.1±1.5, female gender -4.7±1.4, z=1.87, p>0.05) and SB aperta patients (male gender -4.3±1.6, female gender -4.5±1.4, z=0.66, p>0.05), while there was significantly increased recessive homozygosity in female SB occulta group versus control female group (Females: SB occulta -4.7±1.4, Control group -4.0±1.4, z=3.16, p<0.01) and female SB aperta group versus control female group (Females: SB aperta -4.5±1.4, Control group -4.0±1.4, z=2.05, p<0.05). CONCLUSION:There is increased recessive homozygosity in tested female SB occulta and female SB aperta individuals versus SB male participants and significantly increased recessive homozygosity in female groups of SB patients versus control female group. These findings could lead to the possible assumption that different genes in different degree might be expressed in SB occulta and SB aperta patients.
| S-EPMC3738390 | biostudies-literature