Estimation of standing height in spina bifida: model development and validation.

OBJECTIVE: Childhood standing height has been estimated from arm span-related (heightAS) models. The authors aimed to develop and cross-validate a heightAS model in individuals with spina bifida (SB) and examine the accuracy of existing heightAS models. METHODS: Participants were individuals with sacral and low-lumbar SB (n = 14) and non-SB (n = 83), 7-16 years old. Arm span, age, sex, and group (SB vs. non-SB) were candidate height predictors. Sequential regression and leave-one-out cross-validation approaches were used for the model development (M1) and cross-validation (M1-M5). Existing models were: an SB-specific model from Polfuss et al. (M2) and non-SB specific models from Gauld et al. (M3), Mulu et al. (M4), and Zverev et al. (M5) studies. RESULTS: Arm span and group explained 95 % of the variance in height (R2 = 0.95; p < 0.001; SEE = 3.666 cm) and were included in the M1. Mean differences between actual and estimated height were 0.0 cm (M1), 0.4 cm (M2), and 0.5 cm (M5), all not significant (p > 0.05). However, Bland-Altman analysis revealed some variability in the predictability of the models across participants with limits of agreement ranging from 7.4 to 10.9 cm. Considerable errors were observed with M3 (mean diff: -5.58 cm, 95 % CI: -1.6, -20.2 cm), and M4 (mean diff: 10.5 cm, 95 % CI: -13.8, -27.3 cm). CONCLUSIONS: Models (M1, M2 and M5) may accurately estimate standing height in groups of children with SB. However, due to the wide limits of agreement, caution is recommended when applying these models for individual height estimations.

Assessment of Ventricular Size and Neurocognitive Outcomes in Children with Postnatal Closure of Myelomeningocele.

OBJECTIVE: To assess if ventricular size before shunting is correlated with neurodevelopmental outcomes in children with postnatal myelomeningocele closure. STUDY DESIGN: This retrospective review included children with postnatal surgical closure of myelomeningocele and neuropsychological testing between 2018 and 2023 at the University of California, San Francisco. Frontal-occipital horn ratio (FOHR) was measured immediately before shunt placement or on the first study that reported ventricular stability for nonshunted patients. The primary outcome was full scale IQ (FSIQ) on the Weschler Intelligence Scale. Secondary outcomes included indices of the Weschler scale, the Global Executive Composite from the Behavior Rating Inventory of Executive Function, and the general adaptive composite from the Adaptive Behavior Assessment Scale. Univariable and multivariable regression was used to determine if FOHR was correlated with neuropsychological scores. RESULTS: Forty patients met the inclusion criteria; 26 (65%) had shunted hydrocephalus. Age at neuropsychological testing was 10.9 ± 0.6 years. FOHR was greater in the shunted group (0.64 vs 0.51; P < .001). There were no differences in neuropsychological results between shunted and nonshunted groups. On univariable analysis, greater FOHR was associated with lower FSIQ (P = .025) and lower Visual Spatial Index scores (P = .013), which remained significant on multivariable analysis after adjusting for gestational age at birth, lesion level, shunt status, and shunt revision status (P = .049 and P = .006, respectively). Separate analyses by shunt status revealed that these effects were driven by the shunted group. CONCLUSIONS: Greater FOHR before shunting was correlated with lower FSIQ and the Visual Spatial Index scores on the Weschler Intelligence Scales. Larger studies are needed to explore further the relationship between ventricle size, hydrocephalus, and neurodevelopmental outcomes.

Transición del paciente adolescente con mielomeningocele en su paso al hospital de adultos / Transition of the adolescent patient with myelomeningocele to adult hospital care

El acceso a una salud integral de calidad a lo largo de la vida es un derecho de todos los adolescentes y jóvenes; pero sobre todo resulta relevante en aquellos pacientes con enfermedades complejas crónicas como el mielomeningocele pues de no realizarse tiene repercusión notoria sobre su estado de salud con mayor riesgo de morbimortalidad. En este artículo se comenta la experiencia sobre transición de pacientes con mielomeningocele que se realizó en forma organizada entre los servicios de Consultorio de Mielomeningocele y Hospital de día Polivalente del Hospital Garrahan y el Servicio de Adolescencia del Hospital Ramos Mejía. Se trata de un nuevo modelo asistencial de trabajo interdisciplinario y colaborativo teniendo como eje una fluida comunicación interinstitucional. Este acuerdo formal entre ambos hospitales contó con el recurso humano especializado y la estructura física adecuada para el abordaje integral de esta compleja enfermedad crónica. Este programa propició un entorno al paciente que aseguró el seguimiento por equipos interdisciplinarios. Esta es la mejor opción para brindar un cuidado integral, equitativo, coordinado y accesible mejorando la calidad de vida de los pacientes con mielomeningocele a largo plazo (AU)

Access to quality comprehensive health throughout life is a right of all adolescents and young people; but above all it is relevant in those patients with complex chronic diseases such as myelomeningocele because if it is not performed it has a notable impact on their health status with a greater risk of morbidity and mortality. This article discusses the transition experience of patients with myelomeningocele that was carried out in an organized manner between the Myelomeningocele Clinic and Multipurpose Day Hospital services of the Garrahan Hospital and the Adolescence Service of the Ramos Mejía Hospital. It is a new care model of interdisciplinary and collaborative work with fluid inter-institutional communication as its axis. This formal agreement between both hospitals had specialized human resources and the appropriate physical structure for the comprehensive approach to this complex chronic disease. This program provided an environment for the patient that ensured follow-up by interdisciplinary teams. This is the best option to provide comprehensive, equitable, coordinated and accessible care, improving the quality of life of patients with myelomeningocele in the long term (AU)

Antibiotic Overtreatment of Presumed Urinary Tract Infection Among Children with Spina Bifida.

OBJECTIVE: To identify factors associated with overtreatment of presumed urinary tract infection (UTI) among children with spina bifida using such criteria. STUDY DESIGN: A retrospective review of children with spina bifida (age <21 years) evaluated in the Emergency Department (ED) at a single institution was performed. Patients with a urinalysis (UA) performed who were reliant on assisted bladder emptying were included. The primary outcome was overtreatment, defined as receiving antibiotics for presumed UTI but ultimately not meeting spina bifida UTI criteria (≥2 urologic symptoms plus pyuria and urine culture growing >100k CFU/mL). The primary exposure was whether the components of the criteria available at the time of the ED visit (≥2 urologic symptoms plus pyuria) were met when antibiotics were initiated. RESULTS: Among 236 ED encounters, overtreatment occurred in 80% of cases in which antibiotics were initiated (47% of the entire cohort). Pyuria with <2 urologic symptoms was the most important factor associated with overtreatment (OR 9.6). Non-Hispanic White race was associated with decreased odds of overtreatment (OR 0.3). CONCLUSIONS: Overtreatment of presumed UTI among patients with spina bifida was common. Pyuria, which is not specific to UTI in this population, was the main driver of overtreatment. Symptoms are a cornerstone of UTI diagnosis among children with spina bifida, should be collected in a standardized manner, and considered in a decision to treat.

Double Myelomeningocele Repair by Fetal Surgery with a Single Micro-Hysterotomy.

INTRODUCTION: Open spina bifida (OSB) is the most common congenital anomaly of the central nervous system. It is associated with severe neurodevelopmental delay, motor impairment, hydrocephalus, and bowel and bladder dysfunction. In selected cases, intrauterine spina bifida repair has been shown to improve neonatal outcomes. Rarely, the spine can have a double defect compromising two different segments and there is a lack of evidence on the feasibility and benefits of intrauterine repair in these cases. CASE PRESENTATION: We present a case with both cervicothoracic and lumbosacral myelomeningocele, Arnold-Chiari malformation type II and bilateral ventriculomegaly, that was treated successfully at 25 weeks with open micro-neurosurgery. Double myelomeningocele was successfully treated through a single 2-cm micro-hysterotomy, by performing external versions to sequentially expose and repair both defects. Weekly postoperative follow-up showed no progression of ventriculomegaly or complications attributable to the procedure. Preterm rupture of membranes prompted a conventional cesarean delivery at 32 weeks of gestation. Neurodevelopmental outcome at 20 months was within normal ranges, having achieved ambulation without orthopedic support and with no need for ventriculoperitoneal shunting. CONCLUSION: This report demonstrates for the first time the feasibility of double OSB repair through a single 2-cm micro-hysterotomy, suggesting that selected isolated cases of double myelomeningocele could be candidates for fetal intervention. Further prospective studies should be carried out to assess the potential benefit of double OSB intrauterine open repair.

Intrauterine Correction of Fetal Myelomeningocele Through Minihysterotomy.

Spina bifida is the most common congenital central nervous system anomaly, resulting in lifelong neurologic, urinary, motor, and bowel disability.1 Its most frequent form is myelomeningocele, characterized by spinal cord extrusion into a sac filled with cerebrospinal fluid.1 We report the case of a 28-year-old pregnant female with no comorbidities. At 16 weeks of pregnancy, fetal ultrasound presented ventriculomegaly, cerebellar herniation, and lumbar myelomeningocele. At 22 weeks, intrauterine surgical correction was performed (Video 1). A minihysterotomy spanning approximately 3 cm was performed. The defect was opened, and the neural placode was dissected and released. This was followed by the isolation of the peripheric dura, which was molded into a tube and closed with watertight suture. Finally, the minihysterotomy was sutured and the skin was closed. The pregnancy followed its course with no complications, and the child was born at term with the lesion closed and no necessity of intensive care. Recent studies have demonstrated that infants who undergo open in utero myelomeningocele repair have better neurologic outcomes than those who are treated after birth.1,2 However, maternal morbidity is nonnegligible with the classical open surgery.2 Peralta et al2 propose a modification of the classic 6.0- to 8.0-cm hysterotomy in which the same multilayer correction of the spinal defect is performed through a 2.5- to 3.5-cm hysterotomy. This modification, called minihysterotomy, has been successfully performed outside of its creation center and was associated with reduced risks of preterm delivery and maternal, fetal, and neonatal complications.2,3.

Height and body mass index distribution in children and adolescents with and without spina bifida.

OBJECTIVE: Children with spina bifida (SB) are at risk for stunting and overweight. However, height and Body Mass Index (BMI) z-score distribution in children and adolescents with SB are unclear. The aim of this study was to examine height and BMI z-score distribution in Brazilian children and adolescents with and without SB. This study further aimed to examine whether height and BMI z-scores differ between individuals with and without SB. METHOD: This study included 101 participants (SB: n = 18; non-SB: n = 83, aged 7-16 years). The World Health Organization (WHO) AnthroPlus software was used to calculate height and BMI z-scores. AnthroPlus z-score distribution graphs were used to examine individual z-scores based on the 2007 WHO normal distribution curve. Effects of the group (SB vs non-SB) on height and BMI z-scores were examined with sequential regression. RESULTS: In the WHO distribution graph analysis, height z-scores of participants with SB were slightly left-shifted compared to the WHO normal distribution curve. In the regression analysis, group (SB vs non-SB) was a significant predictor of height z-scores after controlling for sex and age (ΔR2 = 0.064, p = 0.010). BMI z-scores of participants with SB were right-shifted compared to the WHO normal curve. However, there was no contribution of the group to BMI z-scores (ΔR2 = 0.011, p = 0.301). CONCLUSIONS: These findings suggest that Brazilian children and adolescents with SB may be at risk for reduced height and increased BMI.

Multidisciplinary management of people with spina bifida across the lifespan.

The average worldwide prevalence of neural tube defects (NTDs) is 1.0 per 1000 births. Its development is multifactorial due to genetic and non-genetic factors. Spina bifida (SB) is one of main representatives of NTD. The spinal cord lesion level is the main determinant of the level of paralysis, numbness, and difficulties with bladder/bowel functions. Myelomeningocele prenatal repair reduces hydrocephalus and hindbrain herniation and improves motor function. The severity of hydrocephalus is associated with poorer neurodevelopmental outcomes whether operated on prenatally or after birth. People with SB tend to have a lower IQ and cognitive difficulties. Early diagnosis, proactivity, and lifelong multidisciplinary follow-up are key protective issues. Invasive urological interventions should be considered in selected patients after failure of conservative treatment. Transition to adult care should be well planned as it is challenging. Health literacy is directly associated with success at transition. Sexuality and fertility should be addressed before/during puberty. Overall, the rates of fecal and urinary continence and skin breakdown increase with age, whereas the ability to ambulate declines with age. Bowel and urinary incontinence are independent predictors of lower health-related quality of life (HRQoL) in adults with SB. Bowel incontinence has negative impact on HRQoL regardless of frequency or amount. Long-term caregiver support should be offered at diagnosis. Survival at a mean of 50 years is poor, at 32%, due to central nervous system deaths, cancer, urological disease, and sepsis. Challenges to implementation of recommended practices exist, especially in low and middle-income countries.

Height and body mass index distribution in children and adolescents with and without spina bifida

Abstract Objective Children with spina bifida (SB) are at risk for stunting and overweight. However, height and Body Mass Index (BMI) z-score distribution in children and adolescents with SB are unclear. The aim of this study was to examine height and BMI z-score distribution in Brazilian children and adolescents with and without SB. This study further aimed to examine whether height and BMI z-scores differ between individuals with and without SB. Method This study included 101 participants (SB: n= 18; non-SB: n= 83, aged 7-16 years). The World Health Organization (WHO) AnthroPlus software was used to calculate height and BMI z-scores. AnthroPlus z-score distribution graphs were used to examine individual z-scores based on the 2007 WHO normal distribution curve. Effects of the group (SB vs non-SB) on height and BMI z-scores were examined with sequential regression. Results In the WHO distribution graph analysis, height z-scores of participants with SB were slightly left-shifted compared to the WHO normal distribution curve. In the regression analysis, group (SB vs non-SB) was a significant predictor of height z-scores after controlling for sex and age (ΔR2= 0.064, p= 0.010). BMI z-scores of participants with SB were right-shifted compared to the WHO normal curve. However, there was no contribution of the group to BMI z-scores (ΔR2= 0.011, p= 0.301). Conclusions These findings suggest that Brazilian children and adolescents with SB may be at risk for reduced height and increased BMI.

Analysis of long-term family dynamics in mothers who have undergone fetal myelomeningocele surgery using telemedicine: a pilot study

SUMMARY OBJECTIVE: The aim of this study was to understand the dynamics of families with children with myelomeningocele undergoing intrauterine fetal surgery. METHODS: A retrospective cohort pilot study was carried out with 11 mothers of children who had undergone intrauterine myelomeningocele repair. Participants in this study responded to an electronic questionnaire (via Google Forms), developed by the study authors, that consisted of 22 multiple-choice questions, of which 17 were closed-ended and 5 had a standardized format. RESULTS: The mean (± standard deviation) of the mothers' age was 37.6 (± 3.5) years. The median of gestational age at delivery and birthweight were 34.9 (range, 33 to 36.1) weeks and 2,300 (range, 1,950 to 2,763) g, respectively. The majority of mothers were white (81.8%), had university degree (81.8%), were Catholic (63.6%), and were married (100%). The majority of mothers rated their relationship with their husband, family, and friends as excellent (54.5, 72.7, and 54.5%, respectively). All 11 mothers reported that the newborn with myelomeningocele was born <37 weeks gestation and the birthweight most often<2,500 g. Approximately 64% of the mothers reported that their child required adaptations or had special needs, of which walking aids (50%) and bladder control (50%) were the most common ones. CONCLUSION: Telemedicine proved to be a useful tool in the long-term follow-up of children who underwent intrauterine surgery to correct myelomeningocele.

Micro-Surgical Treatment of Fetal Myelomeningocele / Tratamento microcirúrgico da mielomeningocele fetal

Introduction Myelomeningocele (MMC) is the most common malformation of the central nervous system compatible with life. We will report the results obtained with the prenatal closure of MMC at the Instituto Estadual do Cérebro Paulo Niemeyer (IECPN). Objectives Clinical outcome of fetuses undergoing intrauterine MMC repair by the Peralta mini-hysterotomy. Monitor the reduction of Arnold-Chiari II secondary to MMC, reduction of hydrocephalus and also motor development in these children. Methods Descriptive study of 26 cases with intrauterine MMC repair by mini-hysterotomy, or Peralta technique, performed at the IECPN from December 2017 to February 2020. Results Between December 2017 and February 2020, 26 pregnant women with children with MMC were operated on using Peralta technique. Fetuses were born at an average gestational age of 34.2 weeks and 8% were born before 30 weeks of gestation. The average birth weight was 2096g. It was possible to observe a significant reduction in the occurrence of Arnold-Chiari II in these patients, as well as an evident improvement in motor function in the neurological examination of these babies at the end of the first month of life, where 20 of 23 babies had active movement in the lower limbs. Discussion This study demonstrates the correction of fetal MMC through a mini-hysterotomy of 2.5 to 3.5 cm, developed in order to reduce maternal and fetal mortality. This mini-hysterotomy technique is not a minimally invasive procedure, as it is based on open surgery for the treatment of fetal MMC, as recommended by the Management of Myelomeningocele Study (MOMS).

Introdução Mielomeningocele (MMC) é a malformação mais comum do sistema nervoso central compatível com a vida. Nós relataremos os resultados obtidos com o fechamento pré-natal da MMC no Instituto Estadual do Cérebro Paulo Niemeyer (IECPN). Objetivos Desfecho clínico dos fetos submetidos a correção intrauterina de MMC por mini-histerotomia de Peralta. Monitorar a redução de Arnold-Chiari II secundária à MMC, redução da hidrocefalia e também o desenvolvimento motor nessas crianças. Métodos Estudo descritivo de 26 casos com correção intrauterina de MMC por mini-histerotomia ou técnica de Peralta realizadas no IECPN no período entre dezembro de 2017 a fevereiro de 2020. Resultados Entre dezembro de 2017 a fevereiro de 2020, 26 gestantes com filhos portadores de MMC, foram operadas utilizando-se a técnica de Peralta. Os fetos nasceram com uma idade gestacional média de 34,2 semanas e 8% nasceram antes das 30 semanas de gestação. O peso médio ao nascer foi de 2096 gramas. Foi possível observarmos uma significativa redução na ocorrência de Arnold-Chiari II nestes pacientes, bem como uma evidente melhora da função motora no exame neurológico destes bebês ao final do primeiro mês de vida, aonde 20 de 23 bebês apresentavam movimentação ativa nos membros inferiores. Discussão Este estudo demonstra a correção da MMC fetal através de uma mini-histerotomia de 2,5 à 3,5cm, desenvolvida com o intuito de reduzir a mortalidade materna e fetal. Esta técnica de mini-histerotomia não é um procedimento minimamente invasivo, pois é baseada na cirurgia aberta para o tratamento da MMC fetal, como preconiza o estudo Management of Myelomeningocele Study (MOMS).

Spina Bifida Global Learning Collaborative: Educating the next generation of clinicians, researchers, and advocates.

PURPOSE: This project aimed to launch an international learning community to guide the development of a spina bifida (SB) curriculum for global health trainees. METHODS: Using a descriptive study design, a convenience sample of SB curricula were identified in 2022-23 by members of the Spina Bifida World Congress Outreach Committee and evaluated during a series of monthly Zoom calls to discuss SB education in a global health context. Participants included (1) leadership from the ReachAnother Foundation, (2) invited panelists from the Spina Bifida World Congress Global Health Symposium, and (3) global health students and preceptors. Education initiatives in Ethiopia, Sweden, Argentina, Ecuador, and the United States were evaluated vis-à-vis format and content. RESULTS: All of the education initiatives referenced the framework of the World Health Organization International Classification of Functioning, Disability and Health. Formats varied and included both virtual and interactive workshops, print materials, videos, and guides for small group discussion. Content addressed four domains: Folate Prevention, Neurosurgical Training, After Care, and Data Collection. A multidisciplinary approach, partnerships with families, and workforce pipeline training were identified as guiding themes for educating the next generation of SB researchers and clinicians in global health settings. CONCLUSION: The Spina Bifida Global Learning Collaborative is a transnational group of advocates, clinicians, and investigators whose mission is the advancement of SB-related global health education. Lessons learned from the collaborative are being leveraged to develop a global health curriculum for learners, which may improve services for individuals with SB around the globe.

Cross-cultural adaptation and concurrent validity of the children's OMNI scale of perceived exertion for Arm-Crank activity in Spina Bifida.

PURPOSE: To perform a cross-cultural adaptation of the OMNI verbal descriptors to Brazilian-Portuguese and examine the validity of the Brazilian version for arm-crank activity. MATERIALS AND METHODS: Cross-cultural adaptation stages were: permission, translation, synthesis, back translation, expert committee review, pretesting, and submission and appraisal. For the concurrent validity, a Brazilian OMNI-Wheel scale was used to obtain rating of perceived exertion for the overall body (RPEOverall) and arms (RPEArms) in participants (n = 9, 10-17 years) with spina bifida. Cardiopulmonary exercise test was used to measure heart rate (HR) and oxygen uptake (VO2). Repeated Measures Correlation (rrm) was used to examine the scale validity. RESULTS: The cross-cultural adaptation produced equivalence between English and Brazilian-Portuguese verbal descriptors based on successful translation and pretesting. The Brazilian OMNI-wheel was validated based on strong associations of RPEOverall with VO2 (rrm (35) = 0.86, 95% CI [0.93, 0.73], p < 0.001) and HR (rrm (35) = 0.89, 95% CI [0.94, 0.79], p < 0.001) and RPEArms with VO2 (rrm (33) = 0.82, 95% CI [0.91, 0.66], p < 0.001) and HR (rrm (33) = 0.82, 95% CI [0.91, 0.66], p < 0.001). CONCLUSIONS: The OMNI scale was cross-culturally adapted to Brazilian-Portuguese. The Brazilian OMNI-Wheel was validated based on strong associations of RPE with HR and VO2. Implications For RehabilitationThe original English OMNI was cross-culturally adapted to Brazilian-Portuguese.A Brazilian wheelchair OMNI was concurrently validated for Arm-Crank Activity in adolescents with spina bifida.This OMNI scale version may aid health providers in monitoring perceived exertion in Brazil.

Characterization of Torquetenovirus in amniotic fluid at the time of in utero fetal surgery: correlation with early premature delivery and respiratory distress.

Torquetenovirus (TTV) is a commensal virus present in many healthy individuals. Although considered to be non-pathogenic, its presence and titer have been shown to be indicative of altered immune status in individuals with chronic infections or following allogeneic transplantations. We evaluated if TTV was present in amniotic fluid (AF) at the time of in utero surgery to correct a fetal neurological defect, and whether its detection was predictive of adverse post-surgical parameters. AF was collected from 27 women by needle aspiration prior to a uterine incision. TTV titer in the AF was measured by isolation of viral DNA followed by gene amplification and analysis. The TTV genomes were further characterized and sequenced by metagenomics. Pregnancy outcome parameters were subsequently obtained by chart review. Three of the AFs (11.1%) were positive for TTV at 3.36, 4.16, and 4.19 log10 copies/mL. Analysis of their genomes revealed DNA sequences similar to previously identified TTV isolates. Mean gestational age at delivery was >2 weeks earlier (32.5 vs. 34.6 weeks) and the prevalence of respiratory distress was greater (100% vs. 20.8%) in the TTV-positive pregnancies. TTV detection in AF prior to intrauterine surgery may indicate elevated post-surgical risk for earlier delivery and newborn respiratory distress.

Late repair in myelomeningoceles: initial experience in a single sub-Saharan center

Introduction: Myelomeningocele is the most common form of spinal dysraphism. In the African context, late diagnosis and surgical treatment are frequent. Objective: To characterize an initial series of open myelomeningocele cases that received delayed repair at the Hôpital de Référence de Maradi. Methods: A series of five cases is presented, with open myelomeningocele, who received delayed surgical repair at the Hôpital de Référence de Maradi, Niger, between June - December 2022. The information was obtained from medical records and imaging records. Results: Five patients were intervened, three female and two male. In all cases the age of the patients at the time of surgery was greater than 30 days. All the dysraphisms were open, showing signs of partial or total epithelialization of the placode, at the time of the intervention. During the evaluation of neurological function, three of them exhibited distal paraplegia, with reflex and sphincter involvement. Laboratory tests showed, in all cases, hemoglobin levels below 12 mg/dl. None of the cases showed deterioration of the neurological state with respect to the preoperative evaluation. Conclusions: The surgical treatment of myelomeningocele in a low-resource setting, as is common in sub-Saharan Africa, has its own characteristics, marked by late presentation to specialized hospital centers, and the low nutritional status of patients. Surgical resection, partial or total, of an exposed and devitalized placode, with signs of epitalization, does not seem to influence the postoperative neurological status.

Introducción: El mielomeningocele es la forma más común de disrafismo espinal. En el contexto africano es frecuente su diagnóstico y tratamiento quirúrgico tardío. Objetivo: caracterizar una serie inicial de casos de mielomeningocele abiertos que recibieron reparación tardía en el Hôpital de Référence de Maradi. Métodos: Se presenta una serie de cinco casos, con MMC abiertos, quienes recibieron reparación quirúrgica tardía en el Hôpital de Référence de Maradi, Niger, entre junio - diciembre de 2022. La información se obtuvo de las historias clínicas y los registros imagenológicos. Resultados: Se intervinieron cinco pacientes, tres femeninos y dos masculinos. En todos los casos la edad de los pacientes al momento de la cirugía era mayor de 30 días. La totalidad de los disrafismos fueron abiertos, mostrando signos de epitelización parcial o total de la placoda, al momento de la intervención. Durante la evaluación de la función neurológica, tres de ellos exhibieron paraplejia distal, con afectación refleja y esfinteriana. Los exámenes de laboratorio mostraron, en todos los casos, niveles de hemoglobina inferiores a 12 mg/dl. Ninguno de los casos mostró deterioro del estado neurológico con respecto a la evaluación prequirúrgica. Conclusiones: El tratamiento quirúrgico del mielomeningocele en un entorno de bajos recursos, como es habitual en el África subsahariana, tiene características propias, marcadas por la presentación tardía a los centros hospitalarios especializados, y el bajo estado nutricional de los pacientes. La resección quirúrgica, parcial o total, de una placoda expuesta y desvitalizada, con signos de epitalización, no parece influir en el estado neurológico postoperatorio.

Barriers and facilitators to the implementation of mandatory folate fortification as an evidence-based policy to prevent neural tube defects.

BACKGROUND: Neural tube defects continue to be one of the main congenital malformations affecting the development of the nervous system and a significant cause of disability and disease burden to individuals living with these conditions. Mandatory food fortification with folic acid is, by far, one of the most efficacious, safe, and cost-effective interventions to prevent neural tube defects. However, most countries fail to effectively fortify staple foods with folic acid, impacting public health and healthcare systems and generating dismal disparities. AIM: This article discusses the main barriers and facilitators for implementing mandatory food fortification as an evidence-based policy to prevent neural tube defects worldwide. METHODS: A comprehensive review of the scientific literature allowed the identification of the determinant factors acting as barriers or facilitators for the reach, adoption, implementation, and scaling up of mandatory food fortification with folic acid as an evidence-based policy. RESULTS: We identified eight barriers and seven facilitators as determinant factors for food fortification policies. The identified factors were classified as individual, contextual, and external, inspired by the Consolidated Framework for Implementation of Research (CFIR). We discuss mechanisms to overcome obstacles and seize the opportunities to approach this public health intervention safely and effectively. CONCLUSIONS: Several determinant factors acting as barriers or facilitators influence the implementation of mandatory food fortification as an evidence-based policy worldwide. Notoriously, policymakers in many countries may lack knowledge of the benefits of scaling up their policies to prevent folic acid-sensitive neural tube defects, improve the health status of their communities, and promote the protection of many children from these disabling but preventable conditions. Not addressing this problem negatively affects four levels: public health, society, family, and individuals. Science-driven advocacy and partnerships with essential stakeholders can help overcome the barriers and leverage the facilitators for safe and effective food fortification.

Biocellulose patch technique for fetoscopic repair of open spina bifida in twin pregnancy.

OBJECTIVES: Twin pregnancy is currently an exclusion criterion for prenatal repair of open spina bifida (OSB). The main objective of this study was to report on our experience of treating twin pregnancies with OSB using the skin-over-biocellulose for antenatal fetoscopic repair (SAFER) technique. We also discuss reconsideration of the current exclusion criteria for fetal OSB repair. METHODS: Eight fetuses with OSB from seven twin pregnancies underwent successful prenatal repair. Six pregnancies were dichorionic diamniotic with only one twin affected, and one was monochorionic diamniotic with both twins affected. Percutaneous fetoscopy was performed under CO2 insufflation of the sac of the affected twin. Neurosurgical repair was performed using a biocellulose patch to protect the placode, with the skin sutured to hold the patch in place, with or without a myofascial flap. Neurodevelopment was assessed using the pediatric evaluation of disability inventory scale in babies older than 6 months of adjusted age, whereas the Alberta scale was used for babies younger than 6 months of adjusted age. RESULTS: All 14 fetuses were liveborn and none required additional repair. Gestational age at surgery ranged from 27.3 to 31.1 weeks, and gestational age at birth ranged from 31.6 to 36.0 weeks. Four out of eight affected twins developed sepsis, but had a good recovery. No sequela of prematurity was found in any of the unaffected twins. Short-term neurodevelopment was normal in all evaluated unaffected twins (5/5) and in all but one affected twins (7/8). In the affected group, only one baby required ventriculoperitoneal shunt placement. CONCLUSIONS: Prematurity is frequent after fetal surgery, and the risk is increased in twin pregnancy. Nevertheless, prenatal surgery using the SAFER technique is feasible, with low risk to both twins and their mother when performed by a highly experienced team. Long-term cognitive assessment of the unaffected twin is needed. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Neural tube defects: Prevalence, mortality, and maternal characteristics in two departmental hospitals in the northwestern region of Nicaragua, 2006-2018.

BACKGROUND: Congenital anomalies are the fifth most common cause of neonatal mortality in Nicaragua, and neural tube defects (NTDs) are the most common of all cases of lethality associated with a birth defect. Prevalence and mortality estimates are needed to propose effective intervention strategies that prevent NTDs over time. METHODS: A cross-sectional study was carried out in northwestern Nicaragua from January 2006 to December 2018. All cases of NTDs (anencephaly, spina bifida, and encephalocele) were registered in hospital surveillance systems, and the medical histories of the mothers and newborns were reviewed. Prevalence was calculated by considering the number of live births and stillbirths older than 20 weeks of gestation with NTDs, divided by the total number of live births and stillbirths in each study year. Neonatal mortality rate (NMR) for NTD, and case fatality for spina bifida was calculated. RESULTS: Two hundred fifty cases of NTDs were identified from 178,498 deliveries (177,316 live births and 1,182 stillbirths). The prevalence of NTDs during this time period was 14.01 (95% CI: 12.27-15.74) per 10,000 births. The prevalence of spina bifida (n = 140), anencephaly (n = 97), and encephalocele (n = 13) was 7.84, (95% CI: 6.54-9.14), 5.43 (95% CI: 4.30-6.45), and 0.73 (95% CI: 0.33-1.12) per 10,000 births, respectively. Mothers with fetus or newborns affected with NTDs did not use folic acid prior to conception, and 11% experienced periods of hyperthermia during the first trimester of pregnancy. NMR for NTDs was 0.55 per 1.000 livebirths. Case fatality for all NTDs and for spina bifida were 55% and 18%, respectively. CONCLUSION: The prevalence and mortality of NTDs in the northwestern region of Nicaragua present peaks and troughs during the study period. Spina bifida was the most frequent type of NTD. We believe that these findings could be of use by health policy makers to strengthen the primary prevention of NTDs in the region through the monitoring of the food fortification policy and folic acid supplementation to women of childbearing age. Additional etiologic studies of NTDs should be considered to identify additional prevention measures.

Risk factors for shunting at 12 months following open fetal repair of spina bifida by mini-hysterotomy.

OBJECTIVES: Open spina bifida (OSB) is the most common neural tube defect. Prenatal repair reduces the need for ventriculoperitoneal shunting (VPS) due to hydrocephalus from 80-90% to 40-50%. We aimed to determine which variables work as risk factors for VPS at 12 months of age in our population. METHODS: Thirty-nine patients underwent prenatal repair of OSB by mini-hysterotomy. The main outcome was occurrence of VPS in the first 12 months of life. Logistic regression was used to estimate the odds ratios (OR) between prenatal variables and the need for shunting. RESULTS: VPS at 12 months occurred in 34.2% of the children. Larger ventricle size before surgery (62.5% ≥15 mm; 46.2% between 12 and 15 mm; 11.8% <12 mm; p=0.008), higher lesion level (80% >L2, vs. 17.9% ≤L3; p=0.002; OR, 18.4 [2.96-114.30]), and later gestational age at surgery (25.25 ± 1.18 vs. 24.37 ± 1.06 weeks; p=0.036; OR, 2.23 [1.05-4.74]) were related to increased need for shunting. In the multivariate analysis, larger ventricle size before surgery (≥15 mm vs. <12 mm; p=0.046; OR, 1.35 [1.01-1.82]) and higher lesion level (>L2 vs. ≤L3; p=0.004; OR, 39.52 [3.25-480.69]) were risk factors for shunting. CONCLUSIONS: Larger ventricle size before surgery (≥15 mm) and higher lesion level (>L2) are independent risk factors for VPS at 12 months of age in fetuses undergoing prenatal repair of OSB by mini-hysterotomy in the studied population.

The First Case of Fetus in Fetu in Nicaragua: The Management Experience of the Pediatric Neurosurgery Team.

Fetus in fetu (FIF) is a rare congenital anomaly of asymmetric monozygotic twins, where the parasitic twin develops abnormally inside the body of the host twin. In most cases, it is incorporated into the sibling's abdomen, which frequently presents as a retroperitoneal mass. Currently, at least 200 cases have been reported worldwide, being this the first case in Nicaragua. We describe a case of a male newborn, born via cesarean section, with a history of multiple congenital malformations observed via ultrasound examination. At birth, a mass is observed on its dorsum that impresses a skull, but without the presence of bones, with three limbs, two upper and one lower, with an outline located transversely on the pelvic girdle and the presence of two male genitalia with agenesis of the testicles and an accessory kidney. A preoperative diagnosis of FIF and spinal dysraphism was made by computed tomography (CT) and magnetic resonance imaging (MRI). They shared a spinal cord and had the presence of an open spinal defect type meningocele with aberrant roots. After the diagnosis and discussion, the multidisciplinary team proceeded to surgery to perform the separation of the twin (FIF). The subsequent anatomopathological examination revealed that the fetus was anencephalic and had reliable FIF characteristics. The resection was performed followed by the closure of the 430 mL meningocele and complete separation of the spine and the parasitic twin. We present the first case of fetus in fetu in Nicaragua.