Effect of photobiomodulation combined with physical therapy on functional performance in children with myelomeningocele: A protocol randomized clinical blind study.

INTRODUCTION: Myelomeningocele is a severe type of spina bifida, resulting from improper closure of the neural tube. This condition drastically affects the structures of the spinal cord resulting in deficiencies. The combination of these deficiencies results in an overall decrease in mobility and functional participation amongst this population. Physiotherapy plays an essential role in rehabilitating people with MMC. The current literature shows that resources such as photobiomodulation (PBM) may support the rehabilitation of neurological conditions. The aim of the proposed study is to evaluate the effects of photobiomodulation (PBM) combined with physical therapy on functional performance in children with low lumbosacral myelomeningocele. MATERIALS AND METHODS: This is a protocol randomized clinical blind study, that will include 30 individuals of both sexes, aged between 5 to 8 years, diagnosed with low and sacral lumbar myelomeningocele and capable of performing the sit-to-stand task. The participants will be randomly assigned into two treatment groups: PBM + physiotherapeutic exercises and sham PBM + physiotherapeutic exercises. Irradiation will be carried out with light emitting diode (LED) at a wavelength of 850 nm, energy of 25 J per point, 50 seconds per point and a power of 200 mW. The same device will be used in the placebo group but will not emit light. Muscle activity will be assessed using a portable electromyograph (BTS Engineering) and the sit-to-stand task will be performed as a measure of functioning. Electrodes will be positioned on the lateral gastrocnemius, tibialis anterior and rectus femoris muscles. The Pediatric Evaluation of Disability Inventory will be used to assess functional independence. Quality of life will be assessed using the Child Health Questionnaire-Parent Form 50. Changes in participation will be assessed using the Participation and Environment Measure for Children and Youth. The data will be analyzed with the aid of GraphPad PRISM. DISCUSSION: The results of this study can contribute to a better understanding of the effectiveness of PBM on functioning and quality of life in children with myelomeningocele. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT04425330.

Prenatal Repair and Physical Functioning Among Children With Myelomeningocele: A Secondary Analysis of a Randomized Clinical Trial.

Importance: The Management of Myelomeningocele Study (MOMS), a randomized clinical trial of prenatal vs standard postnatal repair for myelomeningocele, found that prenatal repair reduced hydrocephalus and hindbrain herniation and improved motor function in children aged 12 to 30 months. The Management of Myelomeningocele Study Follow-up (MOMS2) was conducted in children at ages 5 to 10 years. The primary (neurocognitive) outcome has already been reported. Objective: To determine whether MOMS2 participants who had prenatal repair have better physical functioning than those with postnatal repair. Design, Setting, and Participants: Participants from MOMS were recruited for participation in the follow-up study, MOMS2, conducted from April 9, 2012, to April 15, 2017. For this secondary analysis of the randomized clinical trial, trained examiners without knowledge of the treatment group evaluated the physical characteristics, self-care skills, neurologic function, and mobility of the children. Physical functioning outcomes were compared between the prenatal and postnatal repair groups. MOMS2 was conducted at the same 3 clinical sites as MOMS. Home visits were conducted for families who were unable to travel to one of the clinical sites. Of the 161 children with myelomeningocele aged 5 to 10 years old enrolled in MOMS2, 154 had a physical examination and were included in the analyses. Exposures: Prenatal repair of myelomeningocele. Main Outcomes and Measures: Prespecified secondary trial outcomes of self-care skills, functional mobility, walking skills, and motor level. Results: This analysis included 78 children with postnatal repair (mean [SD] age, 7.4 [2.1] years; 50 girls [64.1%]; 69 White children [88.5%]) and 76 with prenatal repair (mean [SD] age, 7.5 [1.2] years; 43 boys [56.6%]; 70 White children [92.1%]). Children in the prenatal repair group were more competent with self-care skills (mean [SD] percentage of maximum FRESNO Scale score, 90.8% [9.6%] vs 85.5% [17.6%]) and were commonly community ambulators per the Modified Hoffer Classification (51.3% prenatal vs 23.1% postnatal; adjusted relative risk [aRR] for sex, 1.70; 95% CI, 1.23-2.34). Children with prenatal repair also performed the 10-m walk test 1 second faster (difference in medians, 1.0; 95% CI, 0.3-1.7), had better gait quality (adjusted mean difference for home distances of 5 m, 1.71; 95% CI, 1.14-2.54), and could perform higher-level mobility skills (adjusted mean difference for motor total, 5.70; 95% CI, 1.97-11.18). Children in the prenatal repair group were less likely to have a motor function level worse than their anatomic lesion level (aRR, 0.44; 95% CI, 0.25-0.77). Conclusions and Relevance: This secondary analysis of a randomized clinical trial found that the physical functioning benefits of prenatal repair for myelomeningocele reported at age 30 months persisted into school age. These findings indicate the benefit of prenatal repair of myelomeningocele for school-aged children. Trial Registration: ClinicalTrials.gov Identifier: NCT00060606.

Turbulent Cerebrospinal Fluid Flow in Enlarging Terminal Myelocystocele.

Terminal myelocystocele is a rare type of neural tube malformation, consisting of a skin-covered lumbosacral mass, highly associated with other complex abdominal malformations within the OIES complex (omphalocele, imperforate anus, exstrophy of the cloaca and spinal defects). We present a case of a premature female with an extensive lumbosacral mass at birth, as well as an omphalocele, cloacal exstrophy, renal abnormalities, and sacral agenesis. Lumbar magnetic resonance imaging revealed a meningocele sac herniating through the bone defects and containing a syringocele sac. Advanced imaging techniques showed turbulent cerebrospinal fluid flow. At control, 4 weeks later, the defect doubled in size. The myelocystocele sac was evacuated and closed, and the patient persisted with paraparesis. The role of cerebrospinal fluid flow analysis is well established in Chiari-type malformations, in which turbulent flow within the syrinx is related to a better outcome after surgery. It is possible that the same principle could be applied to other spinal malformations, as shown in this case of terminal myelocystocele.

Prevalence of Sleep Disordered Breathing in Children With Myelomeningocele.

BACKGROUND: Retrospective studies have shown high rates of sleep disordered breathing in children with myelomeningocele. However, most patients included in those studies underwent polysomnography because of symptoms, so the prevalence of sleep disordered breathing in this population is unknown. OBJECTIVE: To determine the prevalence of sleep disordered breathing in children with myelomeningocele using screening polysomnography. METHODS: In this cross-sectional study, all children with myelomeningocele seen in a multi-disciplinary spina bifida clinic between 2016 and 2020 were referred for polysomnography regardless of clinical symptoms. Included children had not previously undergone polysomnography. The primary outcome for this study was presence of sleep disordered breathing, defined as Apnea-Hypopnea Index (AHI, number of apnea or hypopnea events per hour of sleep) greater than 2.5. Clinical and demographic variables relevant to myelomeningocele were also prospectively collected and tested for association with presence of sleep apnea. RESULTS: A total of 117 participants underwent polysomnography (age 1 mo to 21 yr, 49% male). The majority were white, non-Hispanic. Median AHI was 1.9 (interquartile range 0.6-4.2). A total of 49 children had AHI 2.5 or greater, yielding a sleep disordered breathing prevalence of 42% (95% CI 33%-51%). In multivariable logistic regression analysis, children with more rostral neurological lesion levels had higher odds of sleep disordered breathing (OR for thoracic, mid-lumbar, and low-lumbar: 7.34, 3.70, 4.04, respectively, compared to sacral level, P = .043). CONCLUSION: Over 40% of a sample of children with myelomeningocele, who underwent screening polysomnography, had significant sleep disordered breathing. Routine screening polysomnography may be indicated in this population.

Daily Physical Activity in Children and Adolescents with Low Lumbar and Sacral Level Myelomeningocele.

PURPOSE: Children with low lumbar and sacral level myelomeningocele are expected to be community ambulators. However, they do not always meet the expected ambulation level by the time they reach adulthood. The purpose of this study is to investigate daily activity energy expenditure and physical activity levels of these patients in daily routine. MATERIALS AND METHODS: 20 patients and 20 healthy peers were included in this case-control study. Omnidirectional accelerometer monitor was used for assessing activity energy expenditure, and daily durations spent in sedentary, light activity, and moderate to vigorous physical activity levels (NCT04186338). RESULTS: Mean activity energy expenditure and moderate to vigorous physical activity duration were significantly lower in the patient group, while age was positively correlated with sedentary time and negatively correlated with light activity time. CONCLUSIONS: In patients with myelomeningocele, increasing daily activity energy expenditure and moderate to vigorous physical activity and, especially as age progresses, decreasing the sedentary behavior may assist in providing the expected ambulation level. These patients should be encouraged to partake in regular exercise programs.

In utero myelomeningocele repair: The natural history of patients with incontinent pattern (sphincteric deficiency: leakage below 40 CMH20).

INTRODUCTION: Since 2011 we have been following prospectively myelomeningocele patients treated in utero with particular interest to patients with sphincter weakness/deficiency. We investigated the changes of bladder pattern and upper urinary tract with time in children who underwent in utero repair and had low-pressure incontinence based on urodynamic evaluation (UE). MATERIALS AND METHODS: From the 120 patients in our database, 117 had at least one UE. Of these, 30 were classified as incontinent when leaking at low pressure (<40 cmH20). We reviewed clinical evaluation, urinary tract ultrasound, voiding cystourethrography (VCUG), and other UE parameters at first and last evaluation. RESULTS: We found 30 cases (25.64%). Mean age at initial evaluation was 4.97 months followed by UE done initially at mean age of 5.73 months. Follow-up was 28.4 months. Febrile urinary tract infection has been found in four patients (13.3%), hydronephrosis in four patients, and bladder neck thickening in three (10%). The VCUG showed vesicoureteral reflux in three cases (3/27, 11.1%). A total of 90% of patients had detrusor overactivity with mean maximum detrusor pressure (33.37 cmH20). Only 16.67% of patients showed normal bladder capacity. From the 30 patients, 23 had at least two UE. We noticed a change of bladder pattern as follows: six patients became of high-risk pattern, five normal, and two with underactive bladder pattern. The average interval between the first and last UE was 25.5 months (median: 15 months). CONCLUSION: We concluded that 43.47% of patients with low DLPP have kept the incontinent pattern. If the initial LPP was below 30 cmH20, 70% remained with the incontinet pattern.

Relationship Between Motor Level and Wheelchair Transfer Ability in Spina Bifida: A Study From the National Spina Bifida Patient Registry.

OBJECTIVE: To identify the specific features that contribute to the variability in baseline wheelchair transfer and the changes in transfer ability (gain or loss) over time for a large cohort of patients with spina bifida (SB) in the National Spina Bifida Patient Registry. DESIGN: Longitudinal cohort study. SETTING: A total of 35 United States outpatient SB clinic sites. PARTICIPANTS: Individuals (N=1687) with SB ages 5-73 (median, 13.33) years who were therapeutic ambulators or nonambulators. INTERVENTION: Not applicable. MAIN OUTCOME MEASURE: Ability to transfer from a wheelchair to another level surface. RESULTS: Bayesian Network Analysis was used to reduce the initial variable set to the following predictors: SB subphenotype, motor level, age, insurance, sex, race, ethnicity, surgical procedures, and number of visits. We used a multinomial logistic model with Wald Chi-square analysis of effects to examine the relationships between transfer ability and predictors. A total of 295 of 1687 eligible patients (17.56%) with myelomeningocele (MMC) and 6 of 58 eligible patients (10.32%) with non-MMC experienced changes in transfer ability during the period of the study. For those with MMC and non-MMC, the highest number of individuals exhibiting changes in motor level had changes from thoracic to high-lumbar, high-lumbar to thoracic, high-lumbar to midlumbar, and midlumbar to high-lumbar lesion levels. Results of the Bayesian Network Analysis revealed that motor level was the predominant factor associated with baseline transfer ability followed by age. The combination of SB sub phenotype, motor level, age, insurance status, number and type of surgical procedures, and time point accurately classified the loss, gain, or no change in transfer ability 82.7% of the time. CONCLUSIONS: Motor level was the predominant factor associated with baseline transfer ability, and the change in transfer ability was directly related to a corresponding change in motor level that might be explained by changes in muscle strength of the iliopsoas and quadriceps.

Relationship between Movement Quality, Functional Ambulation Status, and Spatiotemporal Gait Parameters in Children with Myelomeningocele.

AIMS: We investigated relationships among the Pediatric Neuromuscular Recovery Scale (Peds NRS), modified Hoffer Scale, and spatiotemporal gait parameters in children with myelomeningocele (MMC). METHODS: 21 children with MMC, age 5.3 years (SD = 2.6), were assessed by three clinicians using the Peds NRS and modified Hoffer Scale. In eight children, gait parameters were also measured. RESULTS: The Peds NRS summary score demonstrated good correlation with modified Hoffer Scale score (r = -0.64, p = 0.002) that accounted for 41% of variation in summary score. Six Peds NRS seated/standing items exhibited good relationships with modified Hoffer Scale (r = -0.51 to -0.70, p ≤ 0.023), and the sit-to-stand item demonstrated an excellent relationship (r = -0.85, p < 0.001). Sit-to-stand and three standing/walking items exhibited excellent associations with cadence (Rs = 0.81 to 0.88, p ≤ 0.014), and swing and stance time (both Rs = -0.83 to -0.90, p ≤ 0.01). Two Peds NRS standing items and modified Hoffer Scale score demonstrated good correlations with velocity (Rs = 0.71, p = 0.047; Rs = -0.73, p = 0.04, respectively). CONCLUSIONS: Our findings suggest that children with MMC who exhibit greater movement quality and trunk control are likely to be functional ambulators with more optimal spatiotemporal gait parameters.

Predictors of Walking Activity in Children and Adolescents With Myelomeningocele.

OBJECTIVE: To assess the relationship between real-world walking activity in children and adolescents with myelomeningocele (MMC) and gross measures of lower extremity strength, range of motion, demographics, and medical history. DESIGN: Prospective study. SETTING: Participants recruited in outpatient clinics; data collected in a hospital-based motion analysis laboratory and in the community. PARTICIPANTS: Children and adolescents (N=52) with daily step count data available from a larger study of ambulatory children and adolescents with MMC. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURE: Univariate and multivariate regression was used to assess which participant characteristics and clinical factors were related to average number of steps per day. RESULTS: Univariate analysis showed a lower number of steps per day correlated with older age, male sex, higher body mass index, higher lesion level, use of assistive devices for ambulation, history of shunt placement, more television (TV) watched per week, lower hip extension and abduction strength, knee flexion strength, and ankle dorsiflexion and plantarflexion strength, and decreased knee and hip range of motion. Only assistive device usage and hours of TV watched per week remained in the final multivariate model predicting number of steps per day. CONCLUSIONS: Walking activity in children and adolescents with MMC was best predicted by assistive device use and amount of sedentary activity. Other predictors of walking activity from univariate analysis were related to assistive device use. This information can help tailor rehabilitation efforts and educate patients and families. Interventions targeting early prevention of strength loss and contractures may be important to retain or increase walking activity in children and adolescents with MMC.

Decreased respiratory performance of children and adolescents with myelomeningocele who use a wheelchair - preliminary data.

Myelomeningocele (MMC) is a neural tube defect that often causes spinal cord injury at the thoracolumbar region, as well as sensory and motor paralysis in the lower limbs. This leads to continuous use of a wheelchair and, consequently, a sedentary lifestyle, predisposition to muscle weakness, cardiovascular and respiratory disorders, obesity, and structural alterations in the spine. We assessed the respiratory function and shoulder strength of MMC participants who were wheelchair-users and had no respiratory complaints and compared them to healthy children and adolescents. MMC (n=10) and healthy (n=25) participants of both genders with a mean age of 12.45 years (SD=2.1) were assessed for weight, height, respiratory performance, and isometric peak for shoulder flexors, extensors, abductors, and adductors, using an isokinetic dynamometer. Medullary lesion, functional levels, and abnormal curvatures of the spine were assessed for MMC participants. The level of spinal cord injury for the majority of the MMC participants was high lumbar and they had scoliosis. MMC showed lower values for forced vital capacity, forced expiratory volume at the first second, forced expiratory flow (25-75%), maximal voluntary ventilation, and isometric peak for shoulder flexors and adductors compared to healthy participants. This indicated a decreased vital capacity, respiratory muscle endurance, and shoulder muscle strength.

Are primary and secondary types of brain anomalies exclusive factors affecting the attention networks in individuals with spina bifida?

OBJECTIVE: Individuals with spina bifida myelomeningocele (SBM) frequently exhibit cognitive impairments on tasks mediated by brain regions involved in the posterior attention network. Although such deficits have been historically assumed to result from primary and secondary brain insults, there is a dearth of literature regarding whether sequential versus simultaneous surgical closure of neural folds and surgical shunt placement affect neuropsychological function and brain structure of attention networks that have been widely studied in individuals with SBM. The current study addressed these gaps in a large cohort of children and adults with SBM. METHOD: White matter pathways and regional brain volumes of anterior and posterior attention networks were quantified through probabilistic tractography and automated segmentation, respectively. The Child Attention Network Test measured behavioral components of posterior and anterior attention networks. RESULTS: Sequential operations were associated with reduced orienting accuracy and smaller left superior parietal and dorsolateral prefrontal cortex volumes compared to simultaneous operations, controlling for a number of shunt revisions and age. Greater number of shunt revisions was associated with higher radial diffusivity values in the parietal tectocortical pathway. Older participants had greater accuracy and faster conflict resolution performance compared to younger participants, across operation type and number of shunt revisions. CONCLUSIONS: Shunt treatment and revision history related to brain structure and functions associated with the posterior attention network. Neurosurgical history also differentiated the harmful effects of early hydrocephalus on brain structure of the posterior from the anterior attention networks in SBM. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

Spinal Angulation: A Limitation of the Fetal Lamb Model of Myelomeningocele.

INTRODUCTION: The surgically induced fetal lamb model is the most commonly used large animal model of myelomeningocele (MMC) but is subject to variation due to surgical technique during defect creation. MATERIAL AND METHODS: Thirty-one fetal lambs underwent creation of the MMC defect, followed by defect repair with either an extracellular matrix (ECM) patch (n = 10) or ECM seeded with placental mesenchymal stromal cells (n = 21). Postnatal hindlimb function was assessed using the Sheep Locomotor Rating (SLR) scale. Postmortem magnetic resonance imaging of the lumbar spine was used to measure the level and degree of spinal angulation, as well as cross-sectional area of remaining vertebral bone. RESULTS: Median level of angulation was between the 2nd and 3rd lumbar vertebrae, with a median angle of 24.3 degrees (interquartile range 16.2-35.3). There was a negative correlation between angulation degree and SLR (r = -0.44, p = 0.013). Degree of angulation also negatively correlated with the normalized cross-sectional area of remaining vertebral bone (r = -0.75, p < 0.0001). DISCUSSION: Surgical creation of fetal MMC leads to varying severity of spinal angulation in the ovine model, which affects postnatal functional outcomes. Postnatal assessment of spinal angulation aids in standardization of the surgical model of fetal MMC repair.

Urinary and Fecal Continence in 5-Year-Old Patients Who Underwent in utero Myelomeningocele Repair: A Prospective Study.

INTRODUCTION: After the successful results of in utero myelomeningocele (MMC) repair presented by the Management of Myelomeningocele Study, the concept of fetal surgery was introduced in our institution in 2011. Since then, we have been able to follow prospectively a group of patients with attention to urological care. In the present study, we were interested in estimating urinary and fecal continence in this new subset of patients. MATERIAL AND METHODS: We selected from our database patients aged 5 years or older for evaluation of urinary and fecal continence. We reviewed all charts and completed a questionnaire to study aspects of urinary and fecal continence. RESULTS: We identified 14 patients, i.e., 4 (28.6%) males and 10 (71.4%) females. The mean age at MMC surgery was 25.6 gestational weeks. The uro-dynamic class was high-risk in 6 (42.9%), incontinent in 4 (28.6%), hypocontractile in 1 (7.1%), and normal in 3 (21.4%) patients. Three patients had undergone surgery (2 augmentations, i.e., 1 in association with a left colon ACE Macedo-Malone procedure and 1 mini-sling urethroplasty). Twelve patients underwent clean intermittent catheterization (CIC) (85.7%). Only 3 (21.4%) patients had no urinary leakage. Eleven patients (78.6%) used diapers. Eight patients (57.2%) underwent retrograde rectal irrigation and 11 (78.6%) complained of fecal loss. Eleven patients (78.6%) did not report an impact on their self-esteem. CONCLUSION: Despite the use of CIC in 85.7% of the cases, the continence rate in MMC patients operated on in utero was low and 78.6% of the patients used diapers. This data can be used to educate parents about future conditions of their 5-year-old children and may stimulate the debate regarding further attempts (surgical or not) to improve fecal and urinary continence.

In utero myelomeningocoele repair and urological outcomes: the first 100 cases of a prospective analysis. Is there an improvement in bladder function?

OBJECTIVES: To evaluate the first 100 cases of in utero myelomeningocoele (MMC) repair and urological outcomes in a prospective analysis aiming to define possible improvement in bladder function. PATIENTS AND METHODS: We used a protocol consisting of a detailed medical history, urinary tract ultrasonography, voiding cystourethrography, and urodynamic evaluation. Patients were categorised into four groups: normal, high risk (overactive bladder with a detrusor leak-point pressure >40 cm H2 O and high filling pressures also >40 cm H2 O), incontinent, and underactivity (underactive bladder with post-void residual urine), and patients were treated accordingly. RESULTS: We evaluated 100 patients, at a mean age of 5.8 months (median 4 months), classified as high risk in 52.6%, incontinent in 27.4%, with underactive bladder in 4.2%, and only 14.7% had a normal bladder profile. Clean intermittent catheterisation was initiated in 57.3% of the patients and anticholinergics in 52.6%. Antibiotic prophylaxis was initiated in 19.1% of the patients presenting with vesico-ureteric reflux. CONCLUSION: The high incidence of abnormal bladder patterns suggests little benefit of in utero MMC surgery concerning the urinary tract.

Can dynamic ultrasonography replace urodynamics in the follow-up of patients with myelomeningocele? A prospective concurrent study.

AIMS: To evaluate the accuracy of dynamic ultrasonography (DUS), as a feasible alternative diagnostic method to identify detrusor overactivity (DO) in patients with neurogenic bladder. METHODS: We performed concurrent analysis of 81 pairs of urodynamic study (UDS) and DUS, in 63 patients with myelomeningocele (MMC), from June 2014 to February 2017. The assessment focused on bladder behavior during the filling phase, DO evaluation, DO with leakage, compliance, and maximum cystometric capacity (MCC). RESULTS: Patient age ranged from 3 months to 34 years (median, 84 months); 47.6% were male. Overall, 9.5% of patients had chronic kidney disease, 20.6% had recurrent urinary tract infection, 19.05% had vesicoureteral reflux, and 69.8% had constipation. Anticholinergic therapy was used by 41.3% of patients. DO was observed in 45.67% of patients and DO with leakage in 42.6%. Mean bladder compliance was 10.39 mL/cmH2 O and normal MCC was 56.79%. DUS had 91.89% sensitivity in identifying DO, 88.64% specificity, 87.18% positive predictive value, 92.86% negative predictive value, and 90.12% accuracy, with a kappa coefficient of 0.8 (P < 0.001). CONCLUSION: MMC follow-up is essential because urinary parameters can change during patient growth. The standard examination is invasive and has related complications, making noninvasive evaluation a desirable alternative, like DUS. Our data suggest that DO and MCC can be evaluated using DUS in patients with MMC. UDS should be performed in patients with abnormal findings on ultrasound evaluation or those with worsening of urinary tract function.

Damaged cardiovascular autonomic control in wheelchair-using children and adolescents with myelomeningocele: a case-control study.

BACKGROUND: Cardiovascular autonomic dysfunction is associated with the development of cardiovascular diseases, but little is known about it in children and adolescents with myelomeningocele. OBJECTIVE: This study investigated the cardiovascular autonomic function in wheelchair-using children and adolescents with myelomeningocele. METHODS: Twenty-two participants were assigned to one of two groups: myelomeningocele group (n=11) and Control group (n=11). Heart rate variability and systolic blood pressure variability were collected in supine resting position using spectral analyses. Spontaneous baroreflex sensitivity was collected by time-domain through the sequence method. RESULTS: At rest, heart rate was higher in myelomeningocele group when compared to Control group (mean difference 22.1, 95% CI 4.82-39.40; p=0.01). The heart rate and systolic blood pressure variability parameters did not show differences between groups. However, myelomeningocele showed lower gain mean in baroreflex sensitivity (mean difference -4.5, 95% CI -8.47 to -0.60; p=0.02), when compared to Control. CONCLUSION: Wheelchair-using children and adolescents with myelomeningocele presented differences in the autonomic cardiovascular function. This may be associated with hypomobility due to wheelchair dependence, and venous muscle pump insufficiency due to paraplegia.

The Spinal Structure and Lung Function Relationship in an Untreated Nonambulatory Myelomeningocele Group of Patients.

INTRODUCTION: The relationship between spinal structure and respiratory function has been coined as thoracic insufficiency syndrome and is defined as the inability of the thorax to support normal respiratory function or lung growth. Little is known about what supports this relationship in untreated nonambulatory myelomeningocele patients. METHODS: A prospective cross-sectional study of nonambulatory myelodysplasia patients was performed. Anatomic, radiographic, and functional parameters were evaluated to validate the respiratory-spinal structure relationship. Thirty-one patients diagnosed with nonambulatory myelomeningocele fulfilled the inclusion criteria. RESULTS: The imaging study confirmed the spinal deformity. Lung functions measured in this patient population describe reduced lung volumes by CT lung volume reconstruction, reduced vital capacity by spirometry, and reduced total lung capacity by the nitrogen washout method. Together, these findings suggest moderate restrictive respiratory disease. The blood count study did not show evidence of anemia or other blood disturbances. Echocardiogram analysis did not show pulmonary hypertension in any patient. CONCLUSION: The data validate the relationship between spinal structure and lung function. However, there is no simple structural feature that could help to diagnose thoracic insufficiency syndrome. Thus, the diagnosis continues to be based on a combination of clinical findings and radiological and respiratory function evaluations. LEVEL OF EVIDENCE: Level III.

Urinary continence appears to enhance social participation and intimate relations in adolescents with myelomeningocele.

INTRODUCTION: The majority of adults with myelomeningocele (MMC) in Western Sweden use incontinence pads. There is an ongoing discussion as to whether continence improves the quality of life (QoL) in individuals with MMC as it has been hard to establish that an increase in QoL measured by generic health-related quality of life (HRQoL) instruments is achieved by continence surgery. OBJECTIVE: The hypotheses are that patients who are actively involved in a urotherapy/urology program are more continent than patients who are not and that urinary continence is one of the conditions required to enable social participation and physical intimacy. STUDY DESIGN: All 25 individuals in Western Sweden with MMC (15 males) aged 16-18 years were involved in this cross-sectional, prospectively designed study of urinary and fecal continence. During interviews, questions were asked about the following: clean intermittent catheterization (CIC) and bowel regimens, the need for reminders or help from an assistant, social participation, and physical intimacy with a partner. RESULTS: In the group, overall 17 of 25 (68%) had achieved urinary continence, 19 of 25 (76%) had a medical history of fecal continence, and 14 of 25 (56%) had no prescription for incontinence pads. Those who were urinary continent (17) included all nine patients who had received continence surgery in addition to six patients taking anticholinergics and two following the CIC procedure only. Urinary incontinence due to sphincter insufficiency was found in eight individuals, all of whom declined surgical treatment. All individuals (25/25) physically catheterized themselves, and 15/25 (60%) performed the fecal elimination regimen independently. Twelve individuals participated actively in social life, and eight of them had, or had had, a partner. All these 12 were urinary continent, and all but one were able to follow a fecal elimination regimen independently. Three of the 12 said they were fecal incontinent but knew how to become continent by following the prescribed fecal elimination regimen. DISCUSSION: Studies in this patient group have shown that incontinence means that it's harder to live a healthy adult life. Children too worry about incontinence episodes at school, and 70% consider urinary incontinence a problem. A limitation in the study is the small population, something often seen in rare diseases. CONCLUSIONS: With standardized follow-up, active treatment strategy and uro/bowel therapy, the urinary continence rate in adolescents with MMC at the study center is high compared with adults with MMC in Sweden. It appears that urinary continence is important in enabling successful participation in social life and in intimate physical relations with others.

Two-Port Fetoscopic Repair of Myelomeningocele in Fetal Lambs.

OBJECTIVE: The aim of this study was to assess the feasibility and the effectiveness of a fetoscopic myelomeningocele (MMC) repair with a running single suture using a 2-port access in the sheep model. METHODS: Eighteen fetuses underwent surgical creation of a MMC defect at day 75. Fetuses were then randomized into 3 groups. Four fetuses remained untreated (control group). In the other 14 fetuses, a prenatal repair was performed at day 90: 7 fetuses had an open repair (oMMC), and 7 fetuses had a fetoscopic repair (fMMC) using a single-layer running suture through a 2-port access. Lambs were sacrificed at term, and histological examinations were performed. RESULTS: Hindbrain herniation was observed in all live lambs in the control group. A complete closure of the defect was achieved in all the lambs of the fMMC group. A complete healing of the defect and no hindbrain herniation were observed in all live lambs of the oMMC and fMMC groups. The durations of surgeries were not statistically different between the oMMC and the fMMC groups (60 vs. 53 min, p = 0.40), as was the risk of fetal loss (fMMC: 1/7, oMMC: 3/7, p = 0.56). DISCUSSION: Fetoscopic repair of MMC can be performed using a single-layer running suture through a 2-port access and may be promising to reduce the risk of premature rupture of membranes.

Decreased respiratory performance of children and adolescents with myelomeningocele who use a wheelchair - preliminary data

Myelomeningocele (MMC) is a neural tube defect that often causes spinal cord injury at the thoracolumbar region, as well as sensory and motor paralysis in the lower limbs. This leads to continuous use of a wheelchair and, consequently, a sedentary lifestyle, predisposition to muscle weakness, cardiovascular and respiratory disorders, obesity, and structural alterations in the spine. We assessed the respiratory function and shoulder strength of MMC participants who were wheelchair-users and had no respiratory complaints and compared them to healthy children and adolescents. MMC (n=10) and healthy (n=25) participants of both genders with a mean age of 12.45 years (SD=2.1) were assessed for weight, height, respiratory performance, and isometric peak for shoulder flexors, extensors, abductors, and adductors, using an isokinetic dynamometer. Medullary lesion, functional levels, and abnormal curvatures of the spine were assessed for MMC participants. The level of spinal cord injury for the majority of the MMC participants was high lumbar and they had scoliosis. MMC showed lower values for forced vital capacity, forced expiratory volume at the first second, forced expiratory flow (25-75%), maximal voluntary ventilation, and isometric peak for shoulder flexors and adductors compared to healthy participants. This indicated a decreased vital capacity, respiratory muscle endurance, and shoulder muscle strength.