Spina Bifida Group Research Articles

Changes in Autonomic Nervous System Activity in Children With Spina Bifida: A Case-Control Study.

We compared heart rate variability parameters between patients with spina bifida and a control group during urodynamic studies, with the goal of evaluating the autonomic nervous system dysfunction present in spina bifida. Continuous heart rate variability parameters were recorded during 3 successive periods (P0, the 2 minutes prior to the start of filling; P1, from the start of filling to the first desire to void; and P2, from P1 to the end of filling or the start of voiding). The control group consisted of children with vesicoureteral reflux who had undergone video-urodynamic studies. Our study included 11 patients with spina bifida and 9 control participants. At baseline, patients with spina bifida exhibited lower values for the root mean square of successive differences in NN intervals, the percentage of successive R-R interval differences exceeding 50 msec relative to the total number of intervals, and high frequency (HF). In contrast, the low frequency (LF)/HF ratio was elevated in these patients (5.04 ± 4.75 vs. 0.67 ± 0.42, P = 0.014). During bladder filling, LF/HF values increased in the control group (P0, 0.67 ± 0.42; P1, 0.89 ± 0.34; P2, 1.21 ± 0.64; P = 0.018), while they declined in patients with spina bifida (P0, 5.04 ± 4.75; P1, 3.96 ± 4.35; P2, 3.26 ± 4.03; P < 0.001). The HF values were significantly elevated in children with spina bifida during bladder filling (P = 0.002). In the time domain, the standard deviations of all NN intervals were elevated only in the control group during bladder filling. Parasympathetic activity domains were reduced in the children with spina bifida at the initial assessment. During the bladder filling phase, parasympathetic activity increased along with fixed sympathetic activity in the spina bifida group. In contrast, the control group exhibited a shift towards a sympathetic preponderance at the conclusion of bladder filling. These observations may be associated with the pathophysiology of neurogenic bladder in spina bifida.

Comparing Cognitive Disengagement Syndrome Growth in Youth With and Without Spina Bifida.

Cognitive disengagement syndrome (CDS; formally known as sluggish cognitive tempo), difficulties with social engagement, and lower levels of autonomy have been identified as maladaptive comorbidities in youth with spina bifida (SB). This study compared growth curves of CDS for youth with and without SB and examined whether these trajectories were associated with later functioning. Longitudinal data spanning 8 years included youth with SB (n = 68, Mage = 8.34) and a demographically matched sample of typically developing (TD) peers (n = 68, Mage = 8.49). Adolescents, along with their caregivers and teachers, reported on youth social skills, behavioral functioning, and CDS. Growth curve models were examined by comparing CDS trajectories by SB status. Growth curves indicated that youth with SB had higher levels of teacher-reported CDS at ages 8 and 9, but growth curves were relatively stable for both groups. When predicting social skills, higher levels of teacher-reported (but not mother-reported) CDS at baseline predicted worse social functioning for both youth with and without SB in adolescence. For the slope findings, higher rates of mother-reported CDS over time predicted worse social skills (β = -0.43) and lower levels of youth decision-making (β = -0.43) for the SB group, while higher rates of teacher-reported CDS predicted worse social skills for the TD group. Next steps include understanding the impact that impaired social functioning and restricted autonomy have on youth with and without SB due to CDS to inform interventions. Additionally, advocacy for increased awareness of CDS-related impairment is needed, particularly for youth with chronic health conditions.

Health status and health care utilization profiles of adolescents with disabilities

BackgroundAdolescents with physical disabilities of childhood often require a transition from pediatric to adult systems as part of life-long, comprehensive health care once they reach 18 years of age. The process of transition can be complex, challenging, and influenced by health-related factors and availability of health care resources. ObjectiveTo provide a baseline profile of health-related quality of life, health management, social participation, and health care utilization for adolescents 16 years of age with spina bifida (SB), acquired brain injury (ABI), or cerebral palsy (CP) in Toronto, Canada. MethodsA cross-sectional survey design was used. A sample was drawn from a large, urban pediatric rehabilitation hospital as part of a prospective, longitudinal, observational mixed-methods study. Seven English language, paper-copy standardized measures were completed; measures were organized across the three domains of interest. Health care utilization data were obtained from population-based, health services administrative datasets held by ICES. These data included outpatient physician visits, emergency department visits, and hospitalizations over a 12-month period, beginning at their 16th birthday. ResultsThe sample comprised 99 participants: survey measures were completed by 59 participants (12 SB, 19 ABI, and 28 CP) and health care utilization obtained for 92 participants (19 SB, 25 ABI, and 48 CP). Baseline scores across measures and rates of health care utilization are provided. All three groups reported relatively good health-related quality of life. Youth with CP had lower scores on health utility, health management, and social participation, compared with the SB and ABI groups. Youth with SB had slightly higher health care utilization in the 12-month period after their 16th birthday, compared with the ABI and CP groups. ConclusionsThis cross-sectional survey collected comprehensive health status and health care utilization data on 16-year-old youth with SB, ABI, and CP in Toronto, Canada. With few exceptions, the CP group consistently scored lower across measurement domains. These baseline data may be useful for hospital administrators, policy makers, and researchers examining changes in health-related quality of life, health management, social participation, and health care utilization among youth with SB, ABI, and CP, particularly in the context of transition planning and evaluation.

Psychosocial problems and cognitive functions in children with spina bifida.

Objectives This study aims to assess psychosocial functioning in relation to lesion level and ambulatory status in children with spina bifida (SB) and compare them to their peers. Patients and methods Between March 2013 and May 2013, a total of 31 patients with SB (11 males, 20 females; mean age: 9.4 years; range, 6 to 14.7 years) and 36 typically developing peers (16 males, 20 females; mean age: 9.8 years; range, 6.5 to 14.8 years) were included in the study. All participants were assessed using a semi-structured psychiatric diagnostic interview via the Kiddie Schedule for Affective Disorders and Schizophrenia Present and Lifetime Version (K-SADS-PL), Wechsler Intelligence Scale for Children-Revised (WISC-R), Behavioral Rating Inventory of Executive Functions (BRIEF) parent form, Social Responsiveness Scale (SRS), and Aberrant Behavior Checklist (ABC). Results In the SB group, the rate of psychiatric disorders was significantly higher (p=0.001) and the SRS scores and the planning and organizational components of the executive function were higher than their peers (p=0.02 and p=0.007, respectively). The psychiatric diagnosis rate, BRIEF, and SRS total scores did not significantly differ according to lesion level and ambulatory status. The BRIEF initiate and organization of materials subtest scores and ABC scores were significantly lower at high lesion levels (p=0.02, p=0.02, and p=0.02, respectively) and non-community walkers (p=0.002, p=0.03, and p=0.003, respectively). Conclusion Psychiatric disorders, impairment in social responsiveness, and planning and organization components of the executive function are prevalent in children with SB with no intellectual disabilities, compared to their peers. Therefore, psychosocial counseling and multidisciplinary follow-up for SB patients seem to be beneficial.

Anorectal dysfunction in adults with spina bifida and associated socio-emotional factors-a retrospective, cross-sectional cohort study.

Retrospective, cross-sectional study. To investigate prevalence, types, and severity of fecal incontinence (FI) and constipation in adults with spina bifida (SB), in relation to self-perception and help-seeking, and to compare findings to data from a general population reference group. University Medical Center Groningen (UMCG), the Netherlands. The 294 adults with SB registered at UMCG in 2017 were invited to participate. The Groningen Defecation and Fecal Continence Questionnaire was used to assess functional outcomes for FI and constipation using Rome IV criteria. Vaizey (for FI) and Agachan (for constipation) scores were determined. Socio-demographic factors and self-perception of bowel-related problems were recorded through the questionnaire. Data were compared with an age and sex matched reference group. The completed questionnaires of 112 (38%) responding participants were analyzed. FI and constipation were more prevalent in the study group (35% and 45%, respectively) than in the reference group (8.9% and 22%, respectively). In general, in participants with SB aperta (SBA; n = 75), FI was more severe than in participants with SB occulta (SBO; n = 37). However, severity of FI was higher in SBO participants than in the SBA group after the age of 61. Bowel problems in adults with SB were associated with worse self-perception regarding health. In adults with SB, anorectal dysfunction is often present and severe. Older persons with SBO experience more severe FI than in early age. Bowel problems should systematically and more adequately be addressed and controlled throughout adulthood in both the spina bifida groups.

Bridging Pediatric and Adult Rehabilitation Services for Young Adults With Childhood-Onset Disabilities: Evaluation of the LIFEspan Model of Transitional Care.

Background: LIFEspan (“Living Independently and Fully Engaged”) is a linked transition service model for youth and young adults with childhood-onset disabilities offered via an inter-agency partnership between two rehabilitation hospitals (one pediatric and one adult) in Toronto, Canada.Objective: The objective was to evaluate healthcare outcomes (continuity of care and healthcare utilization) for clients enrolled in LIFEspan.Methods: A prospective, longitudinal, observational mixed-method study design was used. The intervention group comprised youth with Acquired Brain Injury (ABI) and Cerebral Palsy (CP) enrolled in LIFEspan. A prospective comparison group comprised youth with Spina Bifida (SB) who received standard care. A retrospective comparison group comprised historical, disability-matched clients (with ABI and CP) discharged prior to model introduction. Medical charts were audited to determine continuity of care, i.e., whether study participants had at least one visit to an adult provider within 1 year post-discharge from the pediatric hospital. Secondary outcomes related to healthcare utilization were obtained from population-based, health service administrative datasets. Data were collected over a 3-year period: 2 years pre and 1 year post pediatric discharge. Rates were estimated per person-year. Fisher's Exact Test was used to examine differences between groups on the primary outcome, while repeated measures GEE Poisson regression was used to estimate rate ratios (post vs. pre) with 95% confidence intervals for the secondary outcomes.Results: Prospective enrolment comprised 30 ABI, 48 CP, and 21 SB participants. Retrospective enrolment comprised 15 ABI and 18 CP participants. LIFEspan participants demonstrated significantly greater continuity of care (45% had engagement with adult services in the year following discharge at 18 years), compared to the prospective SB group (14%). Healthcare utilization data were inconsistent with no significant changes in frequency of physician office visits, emergency department visits, or hospitalizations for clients enrolled in LIFEspan in the year following discharge, compared to the 2 years prior to discharge.Conclusion: Introduction of the LIFEspan model increased continuity of care, with successful transfer from pediatric to adult services for clients enrolled. Data on longer-term follow-up are recommended for greater understanding of the degree of adult engagement and influence of LIFEspan on healthcare utilization following transfer.

Measurement of the Area and Circumference of the Leg: Preliminary Results of a New Method for Estimating Leg Muscle Trophism in Fetuses With Open Lumbosacral Spina Bifida.

To standardize a new technique to evaluate the fetal leg muscle trophism by measuring the area and circumference, and comparing this technique between normal and fetuses with open lumbosacral spina bifida (SB). Observational cross-sectional study was carried out on pregnant women with 26 weeks who were divided into two groups: Group I-fetuses with diagnosis of open lumbosacral SB; Group II-normal fetuses (control). In fetuses with SB, subjective evaluation of the lower limbs was performed (muscle echogenicity and leg movements). To estimate the leg muscle trophism, the measurement of the area and circumference of the leg were standardized, and the reproducibility of this method was performed. Thirty-one fetuses with open lumbosacral SB and 51 normal fetuses were evaluated. The measurements of the area and circumference of the leg proved to be highly reproducible (intraclass correlation coefficient-ICC > 0.95). The leg area and circumference measurements were statistically lower in the SB group than in the control group (p < .001). When subjective ultrasound assessment demonstrated hypotrophy of the lower limbs, the measurements of the area and circumference of the leg were statistically lower when compared to normal fetuses (p < .001). Fetuses with open SB with abnormal lower limb movements had lower measurements of the area and circumference of the leg than fetuses with normal movements (p < .001). A new technique for estimating fetal leg muscle trophism was standardized, which proved to be highly reproducible and was able to show the difference between normal and fetuses with SB.

Quantitative Computed Tomography Assessment of Bone Deficits in Ambulatory Children and Adolescents with Spina Bifida: Importance of Puberty.

ABSTRACTPathologic fractures of the femur and tibia are common in youth with spina bifida (SB). These fractures may be associated with deficient bone accrual due to decreased ambulation and skeletal loading. This prospective cohort study used quantitative computed tomography (QCT) to assess three‐dimensional (3D) bone properties in children and adolescents with SB. Eighty‐three ambulatory youth with SB underwent QCT imaging of the tibia at up to four annual visits between ages 6 to 16 years (294 total visits averaging 3.5 visits/patient). A total of 177 controls without disability and 10 non‐ambulatory youth with SB underwent imaging once. Bone geometric properties (cortical bone area, cross‐sectional area, cortical thickness, cortical density, and moments of inertia) were measured at the mid‐diaphysis (50% of bone length); cross‐sectional area, cancellous density, and density‐weighted area were measured in the proximal (13% of bone length) and distal (90% of bone length) metaphyses. Bone properties were compared between the ambulatory SB and control participants, among SB neurosegmental subgroups (sacral, low lumbar, mid lumbar and above) as a function of pubertal stage (prepubertal, pubertal, postpubertal), and considering SB type (myelomeningocele, lipomyelomeningocele) using linear mixed effects models adjusted for sex, age, height percentile, and body mass index (BMI) percentile. Only cancellous density of both metaphyses and weighted area of the proximal metaphysis differed between ambulatory children with SB and controls before puberty. However, significant deficits in all bone properties manifested during and after puberty as moderate bone growth in the SB group failed to keep pace with the large increases normally observed during puberty. The bone deficits primarily affected patients with myelomeningocele, and similar deficits were observed at all neurosegmental levels except that cancellous density was closer to normal in the sacral group. Descriptive analysis of the 10 non‐ambulatory youth with SB showed greater bone deficits than ambulatory children, particularly for cancellous density in the distal metaphysis. © 2020 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

Cognitive challenges in persons with spina bifida: Bearing on urological dysfunctions?

AimTo evaluate if adult persons with spina bifida (SB) who have urinary tract complications have cognitive difficulties that can be identified by neuropsychological tests.MethodsAll individuals with SB ≥ 18 years of age registered at a regional outpatient clinic (n = 219) were invited, of which, 154 persons were included. Neuropsychological assessment of their cognitive status was performed with Wechsler Adult Intelligence Scale®—Fourth Edition: Coding, Block design, Arithmetic's, FAS (word generation), Rey Auditory Verbal Test for learning, and delayed recall 30 min. Bladder and bowel function were assessed with questions used by the Nordic Spinal Cord Injury Registry (NSCIR) in structured interviews, by questionnaires, and by chart reviews.ResultsAverage neuropsychological test results for this SB population was shown to be approximately 1 SD under the median for the general population. The Coding test showed significantly lower test results as compared with the whole SB group in persons with urinary tract complications, especially urinary tract infections, reduced kidney function, dependent emptying of the bladder, and the bowel and accidental bowel leakage. The Arithmetic's test showed a significant difference between subgroups in all parameters except reduced kidney function whereas the other neuropsychological tests were significantly correlated with some but not all urological parameters.ConclusionWe propose neuropsychological testing with primarily two tests to find those persons with SB who, due to cognitive challenges, might need extra support to minimize urological complications.

Kronik Engelli Bireylerde Ortez Ve Yardımcı Cihaz Memnuniyetinin Araştırılması

Amaç: Bu çalışmanın amacı ortez/yardımcı cihaz tavsiye edilen kronik engelli bireylerin ortez kullanım memnuniyetlerinin araştırılması. Bununla birlikte tanı grupları ve serebral palsili bireylerin motor fonksiyon seviyeleri ile ortez kullanım memnuniyeti arasında ilişki olup olmadığının araştırılmasıdır. Gereç ve Yöntem: Çalışmaya 105 kronik engelli birey (64 serebral palsili, 13 spina bifida, 14 musküler distrofi ve 14 farklı nörolojik tanılı birey) ve aileleri dahil edildi. Yardımcı cihaz/ortez kullanımı, günlük kullanma süreleri ve eğer ortezlerini kullanmıyorlarsa nedenleri sorgulandı. Bireylerin ortez kullanım memnuniyetleri araştırmacılar tarafından literatüre dayanarak oluşturulmuş Ortez Kullanım Memnuniyet Anketi ile değerlendirildi. Bulgular: Serebral palsili bireylerin motor fonksiyon düzeyleri ile ortez kullanım memnuniyeti arasında ilişki olmadığı bulundu (p=0.779). Ortez Kullanım Memnuniyet Anketi toplam skoru ve günlük ortez kullanma süreleri arasında pozitif yönlü zayıf bir ilişki saptandı (r=0.242, p=0.015). Ortez Kullanım Memnuniyet Anketi toplam skoru ve ne kadar zamandır ortez kullanıldığına ait veriler arasında bir ilişki bulunmadı (p=0.811). Engelli bireylerin tanılarının (p=0.23) ve cihaz/ortez tipinin ortez kullanma memnuniyeti skorları ile ilişkili olmadığı saptandı (p=0.97). Sonuç: Sonuç olarak, kronik engelli bireylerde ortez/yardımcı cihaz günlük kullanım süresi arttıkça kullanım memnuniyetinin arttığı ve cihaz/ortez tipinin ortez kullanma memnuniyeti ile ilşkili olmadığı gözlemlendi. Ayrıca serebral palsili, spina bifida, musküler distrofi ve diğer tanı gruplarının ortez memnuniyetlerinin benzer olduğu görüldü.

Physical activity and sedentary behaviour in children with spina bifida.

To describe active and sedentary time in children with spina bifida and to compare their physical activity on weekdays versus weekends. In this exploratory cross-sectional study, data from 13 Canadian and 22 Dutch children with spina bifida (14 females, 21 males; mean age 10y 11mo, standard deviation [SD] 3y 6mo, range 5y 6mo-18y; Hoffer classification distribution: community [n=28], household [n=3], non-functional [n=3], and non-ambulator [n=1]) were analysed. Objective measures of physical activity and sedentary behaviour were obtained by using ActiGraph or Actiheart activity monitors. Data for the participants wearing the ActiGraph were compared with age- and sex-matched controls that were developing typically using independent-samples t-tests. Activity data collected on weekdays was compared to those on weekends. ActiGraph data demonstrated children with spina bifida spent more time sedentary (mean [SD] 49.5min/h [5.78]) and less time in moderate to vigorous physical activity (mean [SD] 2.33min/h [1.61]) compared with the typically developing group (mean [SD] 41.0min/h [5.76] and 5.46min/h [2.13], p=0.001 and p<0.001 respectively). For both ActiGraph- and Actiheart-derived data, physical activity and sedentary time were not significantly different between weekdays and weekends. Children with spina bifida have reduced levels of physical activity and increased sedentary behaviour, with no statistical differences seen between weekdays and weekends. Several methodological issues related to activity monitoring warrant consideration when choosing the appropriate method to quantify physical activity and sedentary behaviour. Reduced levels of physical activity and sedentary time were quantified in children with spina bifida. Objective quantification of physical behaviour in ambulatory and non-ambulatory school-aged children with spina bifida is possible.

Percutaneous Nephrolithotomy and Spina Bifida: Complex Major Stone Surgery?

The incidence of spina bifida (SB) is ∼1:1000, and risk of stone disease is substantially raised in SB. This is the unique published study of the outcome of patients with SB undergoing percutaneous nephrolithotomy (PCNL) compared to a neurologically intact historically matched control group at the same institution. A series of 96 PCNLs in 13 SB and 50 non-SB patients was analyzed. The following measurements were recorded: (1) Comorbidities; (2) Preoperative: (renal function, American Society of Anesthesiologists [ASA] score); (3) Intraoperative: (anesthesia time, number of tracks, stone-free rate); and (4) Postoperative: (sepsis, intensive therapy unit and total length of stay, transfusion rate, stone composition, rate of stone disease-related nephrectomy). Retrograde access to the ureter was impossible in all cases of SB. The median ASA grade (OR 10.5, 95% confidence interval [CI] 2.6-42.7) and operative time (median difference 30 minutes, 95% CI 20-40) were both higher in the SB cohort. Surgeon's estimate of stone-free rate was significantly lower in the SB cohort (46% vs 82%). Intensive care requirement (0.29 days/PCNL vs 0.1 days/PCNL); total hospital stay (7 days vs 4 days); postoperative transfusion rate (11.8% vs 1.6%); and sepsis rate (38% vs 1.6%) were all significantly higher in the SB group. Repeat PCNL and nephrectomy for recurrent stone disease were both significantly increased in SB cohort compared to control group. PCNL in patients with SB is associated with multiple parameters of poor outcome. Patients with SB should be counseled about increased peri-operative risk and likelihood of stone recurrence. In an era where hospitals are judged according to comparative outcomes, a case may be made for comparing PCNL in this cohort of patients separately because of the significantly increased peri- and postoperative morbidity.

Neural tube defects and maternal characteristics in a North Indian Province

Background: Neural tube defects (NTD) affect fewer than 2 per 1000 pregnancies, account for a major burden on healthcare globally and have wide geographic prevalence. The present study was carried out with the aim to evaluate the maternal characteristics in cases of babies born with various neural tube defects in a tertiary care centre in Northern India. Methods: This retrospective analytical study was carried out by accessing and analyzing the medical case records of women who delivered babies with neural tube defects between January 2005 to December 2008 in the Department of Obstetrics and Gynaecology at Pt B D Sharma Postgraduate Institute of Medical Sciences, Rohtak, Haryana, India. Results: Sixty seven babies had neural tube defects thus accounting for a NTD prevalence of 2.62/1000 births. Among these, there were 48 cases of anencephaly, 15 cases of meningocele and/or meningomyelocele, 4 cases of spina bifida occulta. Anencephaly was most prevalent in primiparous women of low literacy aged between 21–25 years. Similar trends were visible in meningomyelocele and spina bifida groups. Most women in the study were homemakers with almost equitable distribution in rural and urban areas. No preponderance of any particular blood group was evident for any of the neural tube defects. Conclusion: Neural tube defects affect a substantial number of newborns in India. Lower age and parity, low literary and rural residence are some of the maternal factors associated with increased risk of these disorders. Preventive strategies like periconceptional folic acid supplementation and health education may help reduce the incidence of these conditions even in low resource settings.

Preliminary investigation of methylation status of microRNA-124a in spinal cords of rat fetuses with congenital spina bifida

Objective: We investigated the expression of microRNA-124a and its methylation status in the spinal cords of rats with congenital spina bifida versus rats with normal fetuses.Methods: Real-time quantitative reverse transcription-polymerase chain reaction was used to compare the expression of microRNA-124a in the spinal cords of 42 rats with all-trans retinoic acid induced congenital spina bifida and 42 rats with normal fetuses. The DNA methylation status in the promoter region of miRNA-124a was detected using methylation specific-PCR.Results: Compared with rats with normal fetuses, expression of microRNA-124a was significantly decreased in rats with congenital spina bifida fetuses. The percentages of spinal cords with DNA hypermethylation in the microRNA-124a promoter were 81% and 14% in the congenital spina bifida and normal control groups, respectively. The difference was statistically significant. Further apoptosis testing revealed increased apoptosis cell numbers in the congenital spina bifida samples. Meanwhile, the phosphorylated mitogen-activated protein kinase protein expression level dramatically decreased in the congenital spina bifida samples.Conclusion: Aberrant DNA methylation was responsible for down-regulation of microRNA-124a by regulating the mitogen-activated protein kinase pathway, suggesting that microRNA-124a is a potential diagnostic biomarker in congenital spina bifida.

Periconceptional risk factors of spina bifida among Egyptian population: a case–control study

Objective: To study the preconceptual & early conceptional risk factors predisposing to the development of spina bifida (SB) among Egyptian population. Study design: The study involved 197 pregnant women undergoing fetal anatomy scan; 97 women proved to have fetal SB and 100 women with normal fetuses as a control group. The control group was recruited randomly in the same period from patients undergoing anatomical scan. Risk factors that might lead to SB were investigated including maternal age, gravidity, parity, residence, history of diabetes mellitus or drug intake, smoking, infections, exposure to X-ray, history of congenital anomalies in other offspring, parental consanguinity, positive family history, and folate supplementations. Results: SB affected the lumbo-sacral region in the majority of cases (89.7%). It was associated with hydrocephalus in 66 cases (68%), polyhydramnios in 12 cases (12.4%). The SB group showed significantly higher parity (p = 0.005), more frequent history of drug intake (p < 0.001), higher frequency of infection with CMV (p = 0.004), and HSV (p = 0.013) and less proportion of folate supplementation (p < 0.001). Conclusion: The rate of SB in the tested group was five per 1000. Risk factors were lack of folate supplementation and history of antiepileptic drugs intake.

Risk of fracture prevention in spina bifida patients: correlation between bone mineral density, vitamin D, and electrolyte values.

The aim of our study was to investigate the relationship between bone mineral density (BMD), vitamin D, and electrolyte blood values in patients with spina bifida, to find a possible therapeutic regimen and an intervention to reduce the risk of fractures in this population. BMD values were measured in 49 patients (32 females, 17 males; aged 14.1 ± 3.86 years; range 5-20 years) using dual-energy X-ray absorptiometry (DEXA) and were analyzed based on sex, the level of spinal involvement, vitamin D, and electrolyte values, physical activity, body mass index (BMI), and ambulatory status [patients were divided into three subgroups: full-time wheelchair (FTWC), limited ambulator (LA), and full-time ambulator (FTA)]. These data were analyzed considering sex-, age-, and BMD-matched values and compared with those of normal population. BMD was significantly lower in these patients compared with that in the general healthy population (Z-score: -1.2 ± 1.8); in particular, females had Z-score values significantly lower that of the males (Z-score: -2.43 ± 2.02; P < 0.0004). In FTWC subgroup, Z-score was lower than that of the other two subgroups (P < 0.009). Vitamin D values were significantly lower compared with those in the general healthy population (vitamin D spina bifida group: 14.6 ± 8.7 mg/dL; normal subjects: 35 ± 9.8 mg/dL; P < 0.001). Subjects with spina bifida showed hypophosphatemia (<3 mg/dL) because of the lower levels of vitamin D (3.1 ± 0.9 mg/dL; P < 0.001). Spina bifida patients showed lower BMD, vitamin D, and electrolyte values than the healthy population; hence, they have an increase risk of developing pathological fractures. Vitamin D supplementation for a longer time period could reduce this risk.

Inpatient and Emergency Room Visits for Adolescents and Young Adults With Spina Bifida Living in South Carolina

ObjectiveTo compare emergency room (ER) and inpatient hospital (IP) use rates for persons with spina bifida (SB) to peers without SB, when transition from pediatric to adult health care is likely to occur; and to analyze those ER and IP rates by age, race, socioeconomic status, gender, and type of residential area. DesignA retrospective cohort study. SettingSecondary data analysis in South Carolina. ParticipantsWe studied individuals who were between 15 and 24 years old and enrolled in the State Health Plan (SHP) or state Medicaid during the 2000-2010 study period. MethodsIndividuals with SB were identified using ICD-9 billing codes (741.0, 741.9) in SHP, Medicaid, and hospital uniform billing (UB) data. ER and IP encounters were identified using UB data. Multivariable Generalized Estimating Equation (GEE) Poisson models were estimated to compare rates of ER and IP use among the SB group to the comparison group. Main Outcome MeasuresTotal ER rate and IP rate, in addition to cause-specific rates for ambulatory care sensitive conditions (ACSC) and other condition categories. ResultsWe found higher rates of ER and IP use in persons with SB compared to the control group. Among individuals with SB, young adults (those 20-24 years old) had higher rates of ER use due to all ACSC (P = .023), other ACSC (P = .04), and urinary tract infections (UTI; P = .002) compared to adolescents (those 15-19 years old). ConclusionsYoung adulthood is associated with increased ER use overall, as well as in specific condition categories (most notably UTI) in individuals 15-24 years old with SB. This association may be indicative of changing healthcare access as people with SB move from adolescent to adult health care, and/or physiologic changes during the age range studied.

The influence of social adjustment on normative and risky health behaviors in emerging adults with spina bifida.

To understand the rates of normative and risky health behaviors and the influence of prior and current social adjustment on health risk behaviors in emerging adults with spina bifida (SB). These data are part of a larger longitudinal study of youth with SB; at ages 18-19, 50 emerging adults with SB and 60 typically developing (TD) youth participated. Social adjustment was measured at ages 12/13, 14/15, 16/17, and 18/19. Substance use and sexual activity were self-reported by emerging adults. The SB group reported similar frequencies (i.e., number of days in the previous month) of cigarette and marijuana use. Fewer individuals with SB reported initiation of both alcohol use (i.e., ever used) and sexual activity (i.e., ever had sex) compared to TD peers. The SB group also reported less frequent alcohol use and fewer sexual partners. Better social adjustment during early adolescence (ages 12/13) predicted more frequent alcohol use and a greater number of sexual partners for all youth. Social adjustment also mediated the effect of group status on health risk behaviors. Emerging adults with SB lag behind TD peers in terms of normative initiation of alcohol use and sexual activity. However, this population participates in some risky health behaviors at similar rates compared to their TD peers (e.g., smoking). Youths' health risk behaviors may be influenced by their level of social adjustment. A challenge for future interventions for this population will be finding methods of improving social functioning without increasing the rate of health risk behavior.

The Maternal ITPK1 Gene Polymorphism Is Associated with Neural Tube Defects in a High-Risk Chinese Population

BackgroundEpidemiological surveys and animal studies have revealed that inositol metabolism is associated with NTDs, but the mechanisms are not clear. Inositol 1,3,4-trisphosphate 5/6-kinase (ITPK1) is a pivotal regulatory enzyme in inositol metabolic pathway. The objective was to assess the potential impact of the maternal ITPK1 genotypes on the inositol parameter and on the NTD risk in a NTD high-risk area in China.Methodology/ResultsA case-control study of pregnant women affected with NTDs (n = 200) and controls (n = 320) was carried out. 13 tag SNPs of ITPK1 were selected and genotyped by the Sequenom MassArray system. We found that 4 tag SNPs were statistically significant in spina bifida group (P<0.05). MACH was used to impute the un-genotyped SNPs in ITPK1 locus and showed that 3 meaningful SNPs in the non-coding regions were significant. We also predicted the binding capacity of transcription factors in the positive SNPs using the bioinformatics method and found that only rs3783903 was located in the conserved sequence of activator protein-1 (AP-1). To further study the association between biochemical values and genotypes, maternal plasma inositol hexakisphosphate (IP6) levels were also assessed using LC-MS. The maternal plasma IP6 concentrations in the spina bifida subgroup were 7.1% lower than control (136.67 vs. 147.05 ng mL−1, P<0.05), and significantly lower in rs3783903 GG genotype than others (P<0.05). EMSA showed a different allelic binding capacity of AP-1 in rs3783903, which was affected by an A→G exchange. The RT-PCR suggested the ITPK1 expression was decreased significantly in mutant-type of rs3783903 compared with wild-type in the 60 healthy pregnancies (P<0.05).Conclusions/SignificanceThese results suggested that the maternal rs3783903 of ITPK1 might be associated with spina bifida, and the allele G of rs3783903 might affect the binding of AP-1 and the decrease of maternal plasma IP6 concentration in this Chinese population.

Metabonomic Profiling of Human Placentas Reveals Different Metabolic Patterns among Subtypes of Neural Tube Defects

Neural tube defects (NTDs) are one of the most common types of birth defects with a complex etiology. We have previously profiled serum metabolites of pregnant women in Lvliang prefecture, Shanxi Province of China, which revealed distinct metabolic changes in pregnant women with NTDs outcome. Here we present a metabonomics study of human placentas of 144 pregnant women with normal pregnancy outcome and 115 pregnant women affected with NTDs recruited from four rural counties (Pingding, Xiyang, Taigu, and Zezhou) of Shanxi Province, the area with the highest prevalence worldwide. A panel of 19 metabolites related to one-carbon metabolism was also quantitatively determined. We observed obvious differences in global metabolic profiles and one-carbon metabolism among three subtypes of NTDs, anencephaly (Ane), spina bifida (SB), and Ane complicated with SB (Ane & SB) via mass-spectrometry-based metabonomics approach. Disturbed carbohydrate, amino acid, lipid, and nucleic acid metabolism were identified. Placental transport of amino acids might be depressed in Ane and Ane & SB group. Deficiency of choline contributes to Ane and Ane & SB pathogenesis via different metabolic pathways. The formation of NTDs seemed to be weakly related to folates. The metabonomic analysis reveals that the physiological and biochemical processes of the three subtypes of NTDs might be different and the subtype condition should be considered for the future investigation of NTDs.