Seasonal trend in the occurrence of myelomeningocele in nigeria: a hypothesis of climate-induced oxidative stress.

PURPOSE: Myelomeningocele is the most severe birth defect compatible with long-term survival. It accounts for 5.7% of neurological surgeries in Nigeria. However, the exact cause of this neural tube defect remains unidentified. This study aims to determine if seasonal variation is a potential environmental contributor. METHOD: This study prospectively recruited 242 children diagnosed with myelomeningocele at the University of Nigeria Teaching Hospital (UNTH), Enugu, Nigeria, between January 2010 and December 2022. Our primary outcome was the seasonal occurrence of myelomeningocele, while covariates included gender, birth order, maternal folic acid supplementation (FAS), and parental age. The estimated month of conception was derived from the mother's last menstrual period (LMP), and the occurrence of myelomeningocele across the various seasons in which these babies were conceived was assessed using the Lorenz curve and the Gini coefficient. RESULTS: 242 patients were studied with a male-to-female ratio of 1.26. The majority of cases were lumbosacral (93.4%), and none of the mothers commenced FAS before conception. The highest proportion of cases (39.7%) occurred during the hottest period of the dry season (January-March), while the lowest proportion (15.7%) occurred during the early wet season (April-June). The Gini index of 0.29, and the Gini coefficient derived from 100,000 Monte Carlo simulations of 0.24, indicate a significant variation in the distribution of myelomeningocele cases across different seasons of conception. CONCLUSION: The seasonal occurrence of myelomeningocele with a peak in January-March suggests a potential association with environmental factors including oxidative stress induced by solar radiation.

"Prevalence and secular trend of neural tube defects in fetal deaths in Argentina, 1994-2019".

BACKGROUND: Fetal deaths are a major source of information on the epidemiology of neural tube defects (NTDs; anencephaly and myelomeningocele). We analyzed NTDs prevalence and secular trend using fetal death records between 1994 and 2019 in Argentina. MATERIALS AND METHODS: Data were obtained from the Department of Statistics and Information of the Ministry of Health (DEIS). Using the number of fetal deaths due to anencephaly and myelomeningocele, we estimated the proportion of all fetal deaths due to anencephaly, myelomeningocele, and NTDs (anencephaly + myelomeningocele) during pre- and post-fortification period in Argentina. We also estimated the ratio of fetal deaths due to anencephaly, myelomeningocele, and NTDs (anencephaly + myelomeningocele) to 10,000 live births. Secular trend in the outcomes was analyzed using a Poisson model and Joinpoint regression analysis. RESULTS: In the entire period analyzed, the NTD proportion on fetal deaths was 1.32. In 1994, NTDs accounted for 34.7% of congenital malformations fetal deaths (CM) and 1.7% of all fetal deaths, whereas in 2019, these percentages were 9.4% and 0.5%, respectively. NTDs present a negative secular trend (p < .05). The risk of fetal death due to anencephaly and myelomeningocele decreases between 2005 and 2019 by 67% and 51% respectively (p < .05) in comparison to the period between 1994 and 2004 before the effective fortification of wheat flour used in the food industry destined for the domestic market. DISCUSSION AND CONCLUSION: We found a significant decrease in the risk of all fetal deaths due to NTDs, particularly anencephaly, in Argentina over the study period, with most reduction observed during the mandatory flour fortification era (introduced in Argentina in 2002). The inclusion of fetal deaths in NTD surveillance, coupled or uncoupled with other pregnancy outcomes, is essential for monitoring preventive supplementation measures.

Postnatal Myelomeningocele Repair in the United States: Rates and Disparities Before and After the Management of Myelomeningocele Study Trial.

BACKGROUND AND OBJECTIVES: Evolving technologies have influenced the practice of myelomeningocele repair (MMCr), including mandatory folic acid fortification, advances in prenatal diagnosis, and the 2011 Management of Myelomeningocele Study (MOMS) trial demonstrating benefits of fetal over postnatal MMCr in select individuals. Postnatal MMCr continues to be performed, especially for those with limitations in prenatal diagnosis, health care access, anatomy, or personal preference. A comprehensive, updated national perspective on the trajectory of postnatal MMCr volumes and patient disparities is absent. We characterize national trends in postnatal MMCr rates before and after the MOMS trial publication (2000-2010 vs 2011-2019) and examine whether historical disparities persist. METHODS: This retrospective, cross-sectional analysis queried Nationwide Inpatient Sample data for postnatal MMCr admissions. Annual and race/ethnicity-specific rates were calculated using national birth registry data. Time series analysis assessed for trends relative to the year 2011. Patient, admission, and outcome characteristics were compared between pre-MOMS and post-MOMS cohorts. RESULTS: Between 2000 and 2019, 12 426 postnatal MMCr operations were estimated nationwide. After 2011, there was a gradual, incremental decline in the annual rate of postnatal MMCr. Post-MOMS admissions were increasingly associated with Medicaid insurance and the lowest income quartiles, as well as increased risk indices, length of stay, and hospital charges. By 2019, race/ethnicity-adjusted rates seemed to converge. The mortality rate remained low in both eras, and there was a lower rate of same-admission shunting post-MOMS. CONCLUSION: National rates of postnatal MMCr gradually declined in the post-MOMS era. Medicaid and low-income patients comprise an increasing majority of MMCr patients post-MOMS, whereas historical race/ethnicity-specific disparities are improving. Now more than ever, we must address disparities in the care of MMC patients before and after birth.

Pre and postnatal care characteristics and management features of children born with myelomeningocele in the post-folate fortification era of staple foods in Costa Rica (2004-2022).

PURPOSE: To describe the clinical characteristics of pre- and postnatal care of children born with myelomeningocele in Costa Rica from 2004 to 2022 after the introduction of mandatory fortification of four major staple foods, describing the clinical features of this cohort including the size of the meningomyelocele, neurological level, presence of symptomatic Chiari II at birth, kyphosis, and the severity of hydrocephalus requiring cerebrospinal fluid (CSF) shunting. These results were compared against the pre-fortification historical data to determine favorable outcomes from this health policy. METHODS: We performed a retrospective review of the clinical records of patients with myelomeningocele at the spina bifida clinic from the National Children's Hospital of Costa Rica who were born between 2004 and 2022, a period when staple food fortification was implemented in the country for four food staples (wheat and corn flour, rice, and dairy products). Pre and postnatal care data pertaining to the number of obstetric ultrasound studies, the trimester in which they were performed, the detection of myelomeningocele and associated hydrocephalus, gestational age and route of delivery, neurological level, myelomeningocele defect size, associated kyphosis and symptomatic Chiari II malformation at birth, time periods of myelomeningocele repair, and CSF shunting were examined. A descriptive comparative frequency analysis between myelomeningocele (MMC) defect size, CSF shunt insertion, symptomatic Chiari II, and kyphosis between the different functional levels was performed with the estimation of the Fisher's exact chi-square test by contingency tables, and 0.05 was set as significance level. Additionally, the postnatal features of this cohort were compared against pre-fortification historical data obtained from 100 live-born patients between 1995 and 1996. RESULTS: A total of 215 patients that were live born between 2004 and 2022 were eligible for analysis with a follow up ranging from 1 to 19 years (median follow up: 7.9 years). Among 99.1% of the mothers of patients who had prenatal consultations, 95.8% had an average of 3.8 obstetric ultrasound studies which led to a 59% prenatal detection rate of myelomeningocele. The pre and post fortification features showed a male/female ratio that changed from 0.92 to 1.25 respectively. Among these newborns, there was an increase from 54 to 64% cesarean sections as method for delivery. Only 26% of the pre fortification patients had the MMC defect repaired in the first 24 h, 32% from 24 to 72 h, 20% from 72 h to 1 week, and 22% later than 10 days respectively which deeply contrasted with the post fortification cohort where 7.5% had the MMC defect repaired in less than 8 h, 12.2% from 8 to 12 h, 66.5% 12-24 h, and 12.7% from 24 to 48 h and 1% later than 48 h, respectively (P < 0.01). Regarding the post fortification myelomeningocele anatomic and functional characteristics, defect size was measured as less than 3 cm in 7% of cases, 3 to 5 cm in 50% of cases, 5 to 7 cm in 42% of cases, and greater than 7 cm in 1% of cases. Thirteen percent of the cases had paraplegia due to a thoracic level, 10% had a high lumbar level, 58% had a middle lumbar level, 13% a lower lumbar level, and 6% only sacral compromise. When the data from the pre and post fortification cohorts were adjusted and compared, there was a reduction from thoracic/high lumbar cases from 26 to 23% (P < 0.56), with an increase of middle lumbar cases from 43 to 58% and a reduction from 25 to 13% of low lumbar cases (P < 0.01) while there was no change in the 6% percentage of sacral cases respectively. Lesions that were considered too extensive or larger than 7 cm decreased from 7 to 1% while associated kyphotic deformities decreased from 6 to 1.4% (P < 0.01); symptomatic Chiari II malformation at birth also decreased from 7 to 2% in the pre- and post-fortification cohorts respectively with all these changes being statistically significant (P < 0.01). Seventy-nine percent and 80% of the pre and post FAF cohorts required CSF VP shunting with a mean time for insertion of 10 days after spinal defect closure with no significant statistical change between the two groups. CONCLUSIONS: This study describes a four-staple folate fortified population of live-born patients with myelomeningocele lesions whose neurological level, defect size, and associated deformities such as spinal kyphosis and symptomatic Chiari II at birth suggest that folate fortification could have diminished the severity of this congenital disease.

Diferencias en la duración del reflejo rectoanal inhibitorio en pacientes con constipación funcional refractaria y mielomeningocele / Differences in rectoanal inhibitory reflex duration between patients with refractory functional constipation and myelomeningocele

Introducción. Habitualmente, durante la manometría anorrectal, en lo correspondiente al reflejo rectoanal inhibitorio (RRAI) solo se pesquisa su presencia o ausencia. Estudios han reportado que su análisis detallado puede brindar datos de interés. Nuestra hipótesis es que la medición del RRAI puede dar información para reconocer causas orgánicas (médula anclada, lipoma, etc.) en pacientes en los que previamente se consideró como de causa funcional. Objetivos. Comparar la duración del reflejo rectoanal inhibitorio en la manometría anorrectal de pacientes con constipación funcional refractaria (CFR) y mielomeningocele (MMC). Población y métodos. Estudio observacional, transversal, analítico (2004-2019). Pacientes constipados crónicos con incontinencia fecal funcional y orgánica (mielomeningocele). Se les realizó manometría anorrectal con sistema de perfusión de agua y se midió la duración del RRAI con diferentes volúmenes (20, 40 y 60 cc). Grupo 1 (G1): 81 CFR. Grupo 2 (G2): 54 MMC. Se excluyeron pacientes con retraso madurativo, esfínter anal complaciente, agenesia sacra y aquellos no colaboradores. Resultados. Se incluyeron 135 sujetos (62 varones). La mediana de edad fue G1:9,57 años; G2: 9,63 años. Duración promedio G1 vs. G2 con 20 cc: 8,89 vs. 15,21 segundos; con 40 cc: 11.41 vs. 21,12 segundos; con 60 cc: 14,15 vs. 26,02 segundos. La diferencia de duración del RRAI entre ambos grupos con diferentes volúmenes fue estadísticamente significativa (p = 0,0001). Conclusión. La duración del RRAI aumenta a mayor volumen de insuflación del balón en ambas poblaciones. Pacientes con MMC tuvieron mayor duración del RRAI que aquellos con CFR. En los pacientes con RRAI prolongado, debe descartarse lesión medular.

Introduction. Usually, during anorectal manometry, only the presence or absence of rectoanal inhibitory reflex (RAIR) is investigated. Studies have reported that a detailed analysis may provide data of interest. Our hypothesis is that RAIR measurement may provide information to detect organic causes (tethered cord, lipoma, etc.) in patients in whom a functional cause had been previously considered. Objectives. To compare RAIR duration in anorectal manometry between patients with refractory functional constipation (RFC) and myelomeningocele (MMC). Population and methods. Observational, analytical, cross-sectional study (2004­2019). Patients with chronic constipation and functional and organic fecal incontinence (myelomeningocele). The anorectal manometry was performed with a water-perfused system, and the duration of RAIR was measured with different volumes (20, 40, and 60 cc). Group 1 (G1): 81 RFC. Group 2 (G2): 54 MMC. Patients with developmental delay, compliant anal sphincter, sacral agenesis and non-cooperative patients were excluded. Results. A total of 135 individuals were included (62 were male). Their median age was 9.57 years in G1 and 9.63 years in G2. Average duration in G1 versus G2 with 20 cc: 8.89 versus 15.21 seconds; 40 cc: 11.41 versus 21.12 seconds; 60 cc: 14.15 versus 26.02 seconds. The difference in RAIR duration with the varying volumes was statistically significant (p = 0.0001). Conclusion. RAIR duration was longer with increasing balloon inflation volumes in both populations. RAIR duration was longer in patients with MMC than in those with RFC. Spinal injury should be ruled out in patients with prolonged RAIR.

Neural Tube Defects from Antenatal Diagnosis to Discharge - a Tertiary Academic Centre Experience.

Background: Bleeding Worldwide, approximately 300,000 infants are born annually with neural tube defects (NTDs), which carry a high risk of morbidity and mortality. Objective: The aim of the study was to describe the experience with NTD patients born at a tertiary academic center. Methods: A retrospective record review of all neonates with NTD admitted to the neonatal intensive care unit over six years. Results: Out of the 39 patients identified, 32 (82.1%) were diagnosed antenatally. Most NTD cases were of the myelomeningocele 26 (66.7%) type. The most common site of the myelomeningocele was lumbar, and the thoracolumbar site had the worst prognosis. Conclusion: Early detection of the disease allows better planning of delivery and treatment decisions. Nevertheless, understanding the magnitude of the problem necessitates adopting public health prevention strategies for better outcomes.

Differences in rectoanal inhibitory reflex duration between patients with refractory functional constipationand myelomeningocele. / Diferencias en la duración del reflejo rectoanal inhibitorio en pacientes con constipación funcional refractaria y mielomeningocele.

Introduction. Usually, during anorectal manometry, only the presence or absence of rectoanal inhibitory reflex (RAIR) is investigated. Studies have reported that a detailed analysis may provide data of interest. Our hypothesis is that RAIR measurement may provide information to detect organic causes (tethered cord, lipoma, etc.) in patients in whom a functional cause had been previously considered. Objectives. To compare RAIR duration in anorectal manometry between patients with refractory functional constipation (RFC) and myelomeningocele (MMC). Population and methods. Observational, analytical, cross-sectional study (2004-2019). Patients with chronic constipation and functional and organic fecal incontinence (myelomeningocele). The anorectal manometry was performed with a water-perfused system, and the duration of RAIR was measured with different volumes (20, 40, and 60 cc). Group 1 (G1): 81 RFC. Group 2 (G2): 54 MMC. Patients with developmental delay, compliant anal sphincter, sacral agenesis and non-cooperative patients were excluded. Results. A total of 135 individuals were included (62 were male). Their median age was 9.57 years in G1 and 9.63 years in G2. Average duration in G1 versus G2 with 20 cc: 8.89 versus 15.21 seconds; 40 cc: 11.41 versus 21.12 seconds; 60 cc: 14.15 versus 26.02 seconds. The difference in RAIR duration with the varying volumes was statistically significant (p = 0.0001). Conclusion. RAIR duration was longer with increasing balloon inflation volumes in both populations. RAIR duration was longer in patients with MMC than in those with RFC. Spinal injury should be ruled out in patients with prolonged RAIR.

Introducción. Habitualmente, durante la manometría anorrectal, en lo correspondiente al reflejo rectoanal inhibitorio (RRAI) solo se pesquisa su presencia o ausencia. Estudios han reportado que su análisis detallado puede brindar datos de interés. Nuestra hipótesis es que la medición del RRAI puede dar información para reconocer causas orgánicas (médula anclada, lipoma, etc.) en pacientes en los que previamente se consideró como de causa funcional. Objetivos. Comparar la duración del reflejo rectoanal inhibitorio en la manometría anorrectal de pacientes con constipación funcional refractaria (CFR) y mielomeningocele (MMC). Población y métodos. Estudio observacional, transversal, analítico (2004-2019). Pacientes constipados crónicos con incontinencia fecal funcional y orgánica (mielomeningocele). Se les realizó manometría anorrectal con sistema de perfusión de agua y se midió la duración del RRAI con diferentes volúmenes (20, 40 y 60 cc). Grupo 1 (G1): 81 CFR. Grupo 2 (G2): 54 MMC. Se excluyeron pacientes con retraso madurativo, esfínter anal complaciente, agenesia sacra y aquellos no colaboradores. Resultados. Se incluyeron 135 sujetos (62 varones). La mediana de edad fue G1:9,57 años; G2: 9,63 años. Duración promedio G1 vs. G2 con 20 cc: 8,89 vs. 15,21 segundos; con 40 cc: 11.41 vs. 21,12 segundos; con 60 cc: 14,15 vs. 26,02 segundos. La diferencia de duración del RRAI entre ambos grupos con diferentes volúmenes fue estadísticamente significativa (p = 0,0001). Conclusión. La duración del RRAI aumenta a mayor volumen de insuflación del balón en ambas poblaciones. Pacientes con MMC tuvieron mayor duración del RRAI que aquellos con CFR. En los pacientes con RRAI prolongado, debe descartarse lesión medular.

Trends in the early care of infants with myelomeningocele in the United States 2012-2018.

PURPOSE: The early care of children with spina bifida has changed with the increasing availability of fetal surgery and evidence that fetal repair improves the long-term outcomes of children with myelomeningocele. We sought to determine current trends in the prevalence and early care of children with myelomeningocele using a national administrative database. METHODS: This is a retrospective, cross-sectional cohort study of infants with spina bifida admitted within the first 28 days of life using the 2012-2018 Healthcare Cost and Utilization Project National Inpatient Database. Patients with spina bifida were identified by ICD code and stratified into a cohort with a coded neonatal repair of the defect and those without a coded repair. This database had no identifier specific for fetal surgery, but it is likely that a substantial number of infants without a coded repair had fetal surgery. RESULTS: We identified 5,090 patients with a coded repair and 5,715 without a coded repair. The overall prevalence of spina bifida was 3.94 per 10,000 live births. The percentage of patients without neonatal repair increased during the study period compared to those with repair (p = 0.0002). The cohort without neonatal repair had a higher risk of death (p < 0.001), prematurity (p < 0.001), and low birth weight (p < 0.001). More shunts were placed in patients who underwent neonatal repair (p < 0.001). Patients without neonatal repair were less likely to have public insurance (p = 0.0052) and more likely to reside in zip codes within the highest income quartile (p = 0.0002). CONCLUSIONS: The prevalence of spina bifida from 2012 to 2018 was 3.94 per 10,000 live births, with an increasing number of patients without neonatal repair of the defect, suggesting increased utilization of fetal surgery. Patients without neonatal repair had a higher risk of death, prematurity, and low birth weight but were more likely to have commercial insurance and reside in high-income zip codes.

Weight Status of Children Participating in the National Spina Bifida Patient Registry.

OBJECTIVES: Describe the distribution of weight status categories and determine factors associated with overweight and obesity (OW/OB) in children and adolescents with spina bifida (SB) using the National Spina Bifida Patient Registry. METHODS: Demographic, anthropometric, and clinical data collected from 2009 through 2018 was used to describe the prevalence of OW/OB. The generalized estimating equation model (GEE) identified factors associated with OW/OB among individuals with SB. RESULTS: Participants (n = 7215) were aged 2 to 19 years (mean = 11.1; standard error, 0.06) and 51.4% female. The majority were non-Hispanic white (57.2%) followed by Hispanic or Latino (25.1%) and non-Hispanic Black (7.5%). The myelomeningocele (MMC) subgroup accounted for 76.3%. Most (60.2%) were community ambulators. The overall percentage of OW/OB was 45.2%, with 49.2% of MMC and 32.0% of nonmyelomeningocele OW/OB. Following the Centers for Disease Control Obesity Severity Classification System, 19.7% of MMC were in class 1, 6.6% in class 2, and 3.5% in class 3. Univariate analysis of MMC participants demonstrated demographic (age, sex, race/ethnicity, and clinic region) and clinical variables (functional level of lesion, ambulation, and number of shunt surgeries) were associated with OW/OB. The GEE model showed that OW/OB was independently, and significantly, associated with age, sex, race/ethnicity, lesion levels, and geographic location of the clinics. CONCLUSIONS: The demographic and clinical factors associated with OW/OB in children and adolescents with SB further our understanding of factors contributing to the higher prevalence of OW/OB in this population and may inform OW/OB prevention and treatment strategies.

Myelomeningocele among Pakistani population.

OBJECTIVE: To investigate the mutation in Vangl1 gene in patients of myelomeningocele. METHODS: The cross-sectional study was conducted from July 2017 to December 2017 in the Dow Diagnostic and Research Laboratory, Karachi, after approval from the ethics review committee of Dow University of Health Sciences, Karachi, and comprised clinically diagnosed infants and 10 healthy individuals from the outpatient department of Jinnah Postgraduate Medical Centre, Karachi. Several anatomical parameters were considered, such as size and site of the cyst. Blood samples were drawn and polymerase chain reaction was conducted for the identification of mutation in Vangl1 gene. Mutation analysis was carried out by aligning the sequence with the reference sequence. RESULTS: Of the 60 subjects, 50(83.3%) were cases with age range 0-10 years, and 10(16.6%) were age matched controls. Majority of the patients 44 (88%) were aged <1 year. Novel mutation in Vangl1 gene was identified at position 239, showing the substitution of valine with glycineV239G. Lumbar region was the most common site for the presentation of myelomeningocele in most of the patients 46(92%). CONCLUSIONS: The rare mutation of myelomeningocele was found present in the sample, and the disease was found mostly in the lumbar region.

Anomalías congénitas frecuentes en Uruguay entre 2011 y 2014: importancia de un registro para la evaluación de las necesidades de salud / Frequent congenital anomalies in Uruguay in 2011-2014; importance of a medical record for health assessment / Anomalias congênitas frequentes no Uruguai entre 2011-2014, importância de um registro para avaliação das necessidades de saúde

Introducción: las anomalías congénitas (AC) son un problema de salud pública con impacto en la infancia, la mortalidad infantil (MI) y la discapacidad. En Uruguay, así como en otros países desarrollados, las AC y la prematuridad son las principales causas de MI. Objetivos: el objetivo de este trabajo fue analizar las anomalías más frecuentes en el país entre 2011 y 2014, y evaluar los factores de riesgo. Material y método: los datos se obtuvieron del Registro Nacional de Defectos Congénitos y Enfermedades Raras y Estadísticas Vitales del Ministerio de Salud Pública. Resultados: se determinó que prácticamente la mitad de los casos fueron: cardiopatías congénitas, síndrome de Down y defectos del tubo neural (anencefalia, encefalocele y mielomeningocele), representando 0,42% (812/191.820) y 2,85% (38/1334) de los nacidos vivos (NV) y de los óbitos fetales respectivamente. Las prevalencias por 10.000 NV y OF fueron: 38,52 y 149,93 para cardiopatías congénitas; 3,6 y 7,5 para síndrome de Down; 2,1 y 127,4 para defectos del tubo neural. La edad materna avanzada fue el principal factor de riesgo de síndrome de Down. Los factores de riesgo observados en las tres anomalías seleccionadas fueron: prematurez, depresión neonatal y bajo peso al nacer. Conclusiones: las anomalías congénitas en general y las seleccionadas en este trabajo en particular, constituyen una causa relevante de morbimortalidad en el período neonatal e infantil, plausibles de prevención. El diagnóstico temprano es fundamental para planificar servicios de salud especializados. Los resultados aquí presentados se pueden utilizar como línea de base para medir el impacto de las acciones de salud a nivel nacional.

Introduction: congenital anomalies (CA) are a public health problem with an impact on childhood, infant mortality (IM) and disability. In Uruguay, as well as in other developed countries, CA and prematurity are the main causes of IM. Objectives: analyze the most frequent anomalies in the country in 2011-2014 and evaluate risk factors. Material and methods: the data were obtained from the National Record of Congenital Defects and Rare Diseases and health statistics from the Ministry of Public Health. Results: it was determined that practically half of the cases were: congenital heart disease, Down syndrome and Neural Tube Defects (anencephaly, encephalocele and myelomeningocele), accounting for 0.42% (812/191,820) and 2.85% (38/1334) of live births and stillbirths respectively. The prevalence per 10,000 NV and stillbirths were: 38.52 and 149.93 for Congenital Heart Disease; 3.6 and 7.5 for Down Syndrome; 2.1 and 127.4 for neural tube defects. Advanced maternal age was the main risk factor for Down syndrome. The risk factors observed in the three selected anomalies were: prematurity, neonatal depression and low birth weight. Conclusions: congenital anomalies in general, and those selected in this study in particular, are a relevant cause of morbidity and mortality in newborns and infants, likely to be prevented. Early diagnosis is essential for planning specialized health services. The results presented in the present paper can be used as a baseline to measure the impact of health actions at national level.

Introdução: as anomalias congênitas (AC) são um problema de saúde pública com impacto na infância, na mortalidade infantil (MI) e na deficiência. No Uruguai, assim como em outros países desenvolvidos as AC e prematuridade são as principais causas de MI. Objetivos: analisar as anomalias mais frequentes no país, entre 2011-2014 e avaliar os fatores de risco. Material e métodos: os dados foram obtidos do Registro Nacional de Defeitos Congênitos e Doenças Raras e estatísticas vitais do Ministério da Saúde Pública. Resultados: determinou-se que praticamente a metade dos casos eram: cardiopatias congênitas, Síndrome de Down e Defeitos do tubo neural (anencefalia, encefalocele e mielomeningocele), representando 0,42% (812/191.820) e 2,85% (38/1334) de nascidos vivos-NV e natimortos, respectivamente. As prevalências por 10.000 NV e natimortos foram: 38,52 e 149,93 para Cardiopatia Congênita; 3,6 e 7,5 para Síndrome de Down; 2,1 e 127,4 para defeitos do tubo neural. A idade materna avançada foi o principal fator de risco para a síndrome de Down. Os fatores de risco observados nas três anomalias selecionadas foram: prematuridade, depressão neonatal e baixo peso ao nascer. Conclusões: as anomalias congênitas em geral e as selecionadas neste estudo em particular, constituem causa relevante de morbimortalidade no período neonatal e infantil, possível de ser prevenida. O diagnóstico precoce é fundamental para o planejamento de serviços de saúde especializados. Os resultados aqui apresentados podem ser usados como base para medir o impacto das ações de saúde realizadas a nível nacional.

Pressure injuries are common in children with myelomeningocele: Results from a follow-up programme and register.

AIM: To investigate the occurrence of pressure injuries (PIs) in children with myelomeningocele (MMC) and to investigate the association between PIs and orthoses use by disability-specific variables. METHODS: Population-based registry study including participants in the Swedish multidisciplinary follow-up programme for MMC. Risks of PIs were investigated by birth cohort, country of birth, sex, type of MMC, muscle function level (MFL), and continence status. RESULTS: Of 180 participants, 29% had PIs recorded. Of the 132 participants with >1 assessment records, 17.4% reported multiple PI occasions. More assessments increased the likelihood of PIs (Odds Ratio [OR] = 1.33, 95% CI 1.15-1.54) and participants born 2015-2018 had a lower OR of PIs than those born 2007-2010 (OR = 0.08, 95% CI = 0.01-0.74). Those at MFL I had lower OR of PIs than those at MFL V (OR = 0.06, 95% CI 0.01-0.64). Of the 73 participants with orthoses on the lower extremities, 47% reported skin irritations/injuries in the last 4 weeks; 30% reported that it made them stop using orthoses. CONCLUSION: Pressure injuries are common even in young children with MMC. Many have recurring skin irritations. Inspecting for PIs should be part of a daily routine and tools to increase compliance are needed.

Frequency, Predictors, and Outcome of Seizures in Patients With Myelomeningocele: Single-Center Retrospective Cohort Study.

To determine the frequency, predictors, and outcomes of seizures in patients with myelomeningocele, we retrospectively analyzed the data from patients with myelomeningocele followed longitudinally at a single center from 1975 to 2013. We identified a total of 122 patients (61% female). The mean follow-up duration was 11.1 years (minimum-maximum = 0-34.5 years, SD = 8.8, median = 9.1 years). A total of 108 (88.5%) patients had hydrocephalus, and 98 (90.7%) of those patients required a ventriculoperitoneal shunt procedure. Twenty-four (19.7%) patients manifested with seizures, 23 of whom had hydrocephalus. The average age of seizure onset was 4.8 years (median 2 years of age). Falx dysgenesis (P = .004), lumbar myelomeningocele (P = .007), and cortical atrophy (P = .028) were significantly associated with epileptic seizure development. The average seizure-free period at the last follow-up in patients with a history of myelomeningocele and seizures was 8.1 years. We conclude that myelomeningocele patients with seizures have an overall good prognosis with considerable long-term seizure freedom.

Orthopaedic outcomes of prenatal versus postnatal repair of myelomeningocele.

Myelomeningocele, characterized by extrusion of the spinal cord through a spinal canal defect, is the most common form of spina bifida, often resulting in lifelong disability and significant orthopaedic issues. A randomized controlled trial (RCT) has shown the efficacy of prenatal repair in decreasing the need for shunting and improving motor outcomes. However, no studies have evaluated the effects of prenatal repair on orthopaedic outcomes. The purpose of this study was to determine the rates of orthopaedic conditions in patients with prenatal and postnatal repair of myelomeningocele and compare the rates of treatment required. This study analyzes the relevant outcomes from a prospective RCT (Management of Myelomeningocele Study). Eligible women were randomized to prenatal or postnatal repair, and patients were evaluated prospectively. Outcomes of interest included rates of scoliosis, kyphosis, hip abnormality, clubfoot, tibial torsion, and leg length discrepancy (LLD) at 12 and 30 months. The need for orthopaedic intervention at the same time points was also evaluated. Statistical analyses included descriptive statistics and univariate analyses. Data for the full cohort of 183 patients were analyzed (91 prenatal, 92 postnatal). There were no differences in rates of scoliosis, kyphosis, hip abnormality, clubfoot or tibial torsion between patients treated with prenatal or postnatal repair. The rate of LLD was lower in the prenatal repair group at 12 and 30 months (7 vs. 16% at 30 months, P = 0.047). The rates of patients requiring casting or bracing were significantly lower in patients treated with prenatal repair at 12 and 30 months (78 vs. 90% at 30 months, P = 0.036). Patients treated with prenatal myelomeningocele repair may develop milder forms of orthopaedic conditions and may not require extensive orthopaedic management.

Clinico-epidemiological profile and outcomes of babies with neural tube defects in a tertiary care center in Northern India.

INTRODUCTION: Neural tube defects constitute a major source of disability among children. Proper management requires accurate diagnosis, an assessment of the severity of the lesion, a decision whether intervention is warranted, the nature of the intervention, and educating the family of the need for lifelong medical care. But to do so, reliable data regarding presentation and outcome is very crucial. AIM OF THE STUDY: To discuss the clinical epidemiological profile and outcome of babies admitted with neural tube defects (NTDs). MATERIAL AND METHODS: Retrospective observational study was done by extracting data from case notes and follow-up files in Department of Neonatology, PGIMER and Dr. RML Hospital, New Delhi over a period from March 2015 to July 2020. RESULTS: A total of 25 babies were included in the study. Majority of babies were born to mother at a median age group of 24 (19-36) yrs and nearly one-third of them were illiterate. The history of maternal periconceptional folic acid intake was seen in only five babies (21%). Two third of babies were male (64%) and the median age at admission was at 9 (1-27) days of life. Majority of the cases were open types of NTDs with most common type being meningomyelocele (88%) followed by occipital encephalocele (12%) and there was one case of closed type of neural tube defect having lipomeningomyelocele (4%). The most common associated anomaly was hydrocephalus (76%) followed by Arnold chiari malformation (56%). Motor weakness in form of paraparesis or paraplegia was present in 21 (84%) babies and sensory deficit was present in 44% babies. Bowel and bladder dysfuntion was present in 48% of cases. Ventriculitis was the most common associated morbidity (38%). Meningomyelocele (MMC) repair was the most commonly performed primary surgery (33%) followed by Ventriculo-peritoneal (VP) shunt repair (24%). Twelve babies (48%) were discharged while 2 (8%) expired and 11 (44%) babies left against medical advice. CONCLUSION: Neural tube defect is a congenital disorder with significant morbidity. The clinical severity of the NTDs and the uncertainty in their cause makes this a priority for further research. National policies for prevention, in utero diagnosis, and early surgical intervention are required for a better prognosis.

In utero myelomeningocele repair and incidence of lower urinary tract surgery. Results of a prospective study.

INTRODUCTION: The purpose of this study was to determine the incidence of lower urinary tract surgery in patients with myelomeningocele (MMC) operated in utero as well as in the subgroup of patients with a minimum age of 5 years. METHODS: We use a previously published protocol to categorize bladder patterns and propose the treatment: high risk pattern-anticholinergics and clean intermittent catheterization (CIC); incontinent and normal patterns-clinical surveillance and underactivity pattern- CIC. Non-response to clinical treatment with maintenance of detrusor pressure higher than 40 cmH20 with worsening of hydronephrosis or recurrent urinary infection were imperative indications for surgery and urinary incontinence due to sphincter deficiency and leakage pressure below 40 cmH20 in patients aged 5 years and older were possible indications too. We identified the prevalence of urinary tract surgery and concomitant treatment of constipation and refractory fecal incontinence by convenience, the technique performed and surgery outcomes. RESULTS: A total of 122 patients are part of the prospective protocol. The first UE was performed in 119 patients (median age of 4 months). The categorization of the bladder pattern was high risk in 52.1%, incontinent in 25.2%, hypocontractile 4.2% and normal in 18.5%. Current follow-up was 29.9 months (1-99 months). Surgery was performed on 10 patients (8.4%): 3 vesicostomies, 2 surgeries to treat vesicoureteral reflux, 6 bladder augmentations, 3 ACE and a sling surgery. Considering only patients older than 5 years, we identified 65 patients and seven surgeries performed (10.8%). DISCUSSION: Most bladder reconstruction studies are case series of single institutions or cooperative services, most of which are retrospective. The prospective clinical interpretation and imaging and urodynamic exams over time allowed us prospectively to define the risk of surgery in patients with myelomeningocele operated in utero. It must be considered that the response to the initial urological treatment and even the failure that leads to the need for surgery have to be evaluated in a context of follow-up time. For this reason we have studied separately patients over 5 years-old and also the group considered to be at greatest risk for surgery, the high-risk group of the categorization already described. CONCLUSION: We found an incidence of 10.8% of surgeries in patients over 5 years-old and 12.9% for the high-risk group. This information may be useful to educate parents when stating urological treatment.

Factors Affecting the Intensive Care Stay of Patients with Spinal Neural Tube Defects.

AIM: To evaluate the duration of hospitalization and the factors that increase this duration in cases treated in the neonatal intensive care unit with the diagnosis of a spinal neural tube defect (NTD). MATERIAL AND METHODS: The demographic characteristics, NTD type and level, ventriculoperitoneal (V-P) shunt needs, accompanying spinal deformity, antibiotherapy applied during treatment, and intensive care stay periods of 73 patients treated in our clinic between July 2017 and 2020 were retrospectively evaluated. RESULTS: The intensive care stay of NTD cases was 7?109 (mean=23) days. Fifty-one cases (69.9%) had myeloschisis, and 22 cases (30.1%) had myelomeningocele (MMC) sac. A V-P shunt was applied to 24 cases (32.9%) during hospitalization, and additional antibiotherapy was given to 32 (43.8%) cases. CONCLUSION: In myeloschisis cases compared with MMC marsupial cases, incidences of ventricular dilatation, kyphotic/scoliotic spine pathology, V-P shunt requirement, and longer hospital stay were observed. No difference in the duration of hospitalization was found in patients who underwent defect repair between the first day and 48 h after birth. However, the length of stay in hospital increased in patients operated on after 48 h. The period was longer in cases operated after seven days postnatally. Therefore, by performing NTD surgical treatment within the first 48 hours, the need for additional antibiotherapy and hospital stay can be shortened.

Myelomeningocele-Chiari II malformation-Neurological predictability based on fetal and postnatal magnetic resonance imaging.

OBJECTIVE: This systematic comparison between pre- and postnatal imaging findings and postnatal motor outcome assesses the reliability of MRI accuracy in the prognostication of the future long-term (mean, 11.4 years) ambulatory status in a historic group of postnatally repaired myelomeningocele (MMC) cases. METHODS: A retrospective, single-center study of 34 postnatally repaired MMC patients was performed. We used fetal and postnatal magnetic resonance imaging (MRI) to compare the fetal and postnatal radiological lesion level to each other and to the postnatal ambulatory level as a standard of reference and analyzed Chiari II malformation characteristics. RESULTS: In 13/15 (87%) and 29/31 (94%) cases, the functional level was equal to or better than the prenatal and postnatal radiological lesion level. A radiological lesion level agreement within two segments could be achieved in 13/15 (87%) patients. A worse than expected functional level occurred in cases with Myelocele (2/3 patients), coexistent crowding of the posterior fossa (2/3 patients) and/or abnormal white matter architecture, represented by callosal dysgenesis (1/3 patients). In all patients (2/2) with a radiological disagreement of more than two segments, segmentation disorders and scoliosis were observed. CONCLUSION: Fetal and postnatal MRI are predictive of the long-term ambulatory status in postnatally repaired MMC patients.

Validation of pediatric sleep questionnaire in children with Chiari malformation and/or spina bifida with or without myelomeningocele.

Sleep-disordered breathing (SDB) is common in Chiari Malformation (CM) and Spina Bifida (SB) and can lead to adverse consequences if untreated. Therefore, screening is very important but the Pediatric Sleep Questionnaire (PSQ) has not been validated in this population. Further, there is limited data on the validity of this tool in children with central nervous system malformations. Retrospective chart review of CM and SB patients evaluated in our sleep center between 2008 and 2018. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of the PSQ and several of its components were calculated to predict obstructive sleep apnea (OSA). A total of 149 patients met criteria for analysis. The majority were referred to a sleep specialist due to concern for SDB. OSA was found in 36% (53/149) of all patients. The sensitivity and specificity of the PSQ to predict OSA was 73.58% and 20.83%, respectively. The PPV was 33.91%, and the NPV was 58.82%. Specificity values were higher for PSQ as negative predictors of moderate or severe OSA. In this population, the sensitivity of PSQ for OSA is reasonable but lower than values described in other populations. The specificity and NPV are low. Even with a high prevalence of OSA, symptoms of SDB may overlap with those of other comorbidities leading to a low specificity. A PSQ could be used to prioritize which patients need a PSG more urgently than others. Further studies are needed to define an optimal cut-off value of the PSQ in this population.