Understanding perspectives on neural tube defect management: insights from Jordanian parents.

INTRODUCTION: Neural tube defects (NTDs) represent a spectrum of heterogeneous birth anomalies characterized by the incomplete closure of the neural tube. In Jordan, NTDs are estimated to occur in approximately one out of every 1000 live births. Timely identification of NTDs during the 18-22 weeks of gestation period offers parents various management options, including intrauterine NTD repair and termination of pregnancy (TOP). This study aims to assess and compare parental knowledge and perceptions of these management modalities between parents of affected children and those with healthy offspring. MATERIALS AND METHODS: This retrospective case-control study was conducted at Jordan University Hospital (JUH) using telephone-administered questionnaires. Categorical variables were summarized using counts and percentages, while continuous variables were analyzed using mean and standard deviation. The association between exposure variables and outcomes was explored using binary logistic regression. Data analysis was performed using SPSS for Windows version 26 (SPSS Inc., Chicago, IL). RESULTS: The study sample comprised 143 participants, with 49.7% being parents of children with NTDs. The majority of NTD cases were associated with unplanned pregnancies, lack of folic acid supplementation, and postnatal diagnosis. Concerning parental knowledge of TOP in Jordan, 86% believed it to be legally permissible in certain situations. However, there was no statistically significant difference between cases and controls regarding attitudes toward TOP. While the majority of parents with NTD-affected children (88.7%) expressed a willingness to consider intrauterine surgery, this percentage decreased significantly (to 77.6%) after receiving detailed information about the procedure's risks and benefits (p = .013). CONCLUSIONS: This study represents the first case-control investigational study in Jordan focusing on parental perspectives regarding TOP versus intrauterine repair of myelomeningocele following a diagnosis of an NTD-affected fetus. Based on our findings, we urge the implementation of a national and international surveillance program for NTDs, assessing the disease burden, facilitating resource allocation toward prevention strategies, and promoting early diagnosis initiatives either by using newly suggested diagnostic biomarkers or early Antenatal ultrasonography.

Neurosurgical training and global health education: systematic review of challenges and benefits of in-country programs in the care of neural tube defects.

OBJECTIVE: The recognition that neurosurgeons harbor great potential to advocate for the care of individuals with neural tube defects (NTDs) globally has sounded as a clear call to action; however, neurosurgical care and training in low- and middle-income countries (LMICs) present unique challenges that must be considered. The objective of this study was to systematically review publications that describe the challenges and benefits of participating in neurosurgery-related training programs in LMICs in the service of individuals with NTDs. METHODS: Using MEDLINE (PubMed), the authors conducted a systematic review of English- and Spanish-language articles published from 1974 to 2019 that describe the experiences of in-country neurosurgery-related training programs in LMICs. The inclusion criteria were as follows-1) population/exposure: US residents, US neurosurgeons, and local in-country medical staff participating in neurosurgical training programs aimed at improving healthcare for individuals with NTDs; 2) comparison: qualitative studies; and 3) outcome: description of the challenges and benefits of neurosurgical training programs. Articles meeting these criteria were assessed within a global health education conceptual framework. RESULTS: Nine articles met the inclusion criteria, with the majority of the in-country neurosurgical training programs being seen in subregions of Africa (8/9 [89%]) and one in South/Central America. US-based residents and neurosurgeons who participated in global health neurosurgical training had increased exposure to rare diseases not common in the US, were given the opportunity to work with a collaborative team to educate local healthcare professionals, and had increased exposure to neurosurgical procedures involved in treating NTDs. US neurosurgeons agreed that participating in international training improved their own clinical practices but also recognized that identifying international partners, travel expenses, and interference with their current practice are major barriers to participating in global health education. In contrast, the local medical personnel learned surgical techniques from visiting neurosurgeons, had increased exposure to intraoperative decision-making, and were given guidance to improve postoperative care. The most significant challenges identified were difficulties in local long-term retention of trained fellows and staff, deficient infrastructure, and lower compensation offered for pediatric neurosurgery in comparison to adult care. CONCLUSIONS: The challenges and benefits of international neurosurgical training programs need to be considered to effectively promote the development of neurosurgical care for individuals with NTDs in LMICs. In this global health paradigm, future work needs to investigate further the in-country professionals' perspective, as well as the related outcomes.

Neural tube defects: review of experimental evidence on stem cell therapy and newer treatment options.

The failure of closure of the neural tube during development leads to malformations called neural tube defects (NTDs). The most common neural malformations in humans include anencephaly, encephalocele, exencephaly, craniorachischisis spina bifida with or without myelomeningocele, lipomyeloschisis, lipomyelomeningocele, meningocele and myelocystocele. Current preventive strategies are mainly based on pharmacologic/folic acid supplementation. However, stem cell-based and other combination approaches may emerge as potential treatment options for NTDs. This review provides an account of experimental evidence on stem cell therapy and newer treatment options for NTDs which have become available in recent years.

[Neural tube dysraphism: meningomyelocele and related disorders]. / Disrafizam neuralne cijevi: meningomijelokele i srodni poremecaji.

Neural tube disorders develop as a result of failure of neural tube closure between 3rd and 5th gestational weeks. This failure can cause soft structure anomalies (spina bifida, lumbal meningocela) or possible can contain neural tissue (meningomyeloccla, encephaloccla). Etiology of this disorder is not clear enough, and probably has multifactorial roots. Besides genetic factors, there are impact of some nutritional causes like folic acid. 28 cases with neural tube dysraphism hospitalized during period August 1999 till August 2002. at the Pediatric Clinic KCU Sarajevo were analyzed through retrospective study. 19/28 (67.8%) of newborn were from controlled pregnancy but without folic acid supplementation, 4 of them (14.2%) had prenatal diagnosis. Dysraphic disorder was the most often accompanied by paraplegia 16/28 (57.1%), hydrocephalus 17/28 (60.7%), from which 6/17 (35.2%) with Arnold Chiary malformation. 13/28 (46.4%) had skeletal deformities. Active preoperative treatment was conducted in 20/28 (71.4%) cases, and the rest of them were treated with home palliative care because of parent's rejection of surgery or major accompanied anomalies presence. In order to decrease the incidence of dysraphic disorders it is necessary to conduct periconceptional folic acid prevention, and provide early prenatal diagnosis. Long term treatment of children with meningomyclocele requires multidisciplinary approach that includes surgeons, orthopedists, pediatricians, physical therapists, in order to improve life quality of survived children.

Pathophysiology, prevention, and potential treatment of neural tube defects.

Neural tube defects (NTD) remain a major cause of morbidity in spite of the reduction in liveborn incidence with periconceptional folic acid. However, the etiology remains unknown. This article reviews studies that address causation and potential treatment of NTD in humans and in animal models that resemble aspects of the common human NTD. Studies of nutritional markers of vitamin B12 and folic acid support a defect in homocysteine metabolism; a thermolabile variant of methylene tetrahydrofolate reductase, an enzyme that remethylates homocysteine to methionine, correlates with a risk of NTD in some human populations. Numerous mouse mutant models of NTD exist, attesting to the ease of disruption of neurulation, and a genetic basis for this malformation. Of these models, the curly tail mouse mutant most closely resembles the common human NTD. Folic acid does not prevent NTD in this model; however inositol supplementation does result in a significant reduction in incidence. Recent advances in fetal surgery, and evidence from mechanically created myelomeningocele in large animals amenable to surgical intervention suggest that the handicaps associated with myelomeningocele and associated Chiari Type II malformation may be prevented by in utero NTD closure. Success will depend on preservation of neurological tissue until such intervention is possible. Further research in animal models at the genetic and cellular levels, together with technological surgical advances, provide hope that prevention of more NTD and the associated handicaps may be possible. MRDD Research Reviews 6:6-14, 2000.

Spina bifida and other neural tube defects.

NTDs, resulting from failure of the neural tube to close during the fourth week of embryogenesis, are the most common severely disabling birth defects in the United States, with a frequency of approximately 1 of every 2000 births. Neural tube malformations involving the spinal cord and vertebral arches are referred to as spina bifida, with severe types of spina bifida involving protrusion of the spinal cord and/or meninges through a defect in the vertebral arch. Depending on the level of the lesion, interruption of the spinal cord at the site of the spina bifida defect causes paralysis of the legs, incontinence of urine and feces, anesthesia of the skin, and abnormalities of the hips, knees, and feet. Two additional abnormalities often seen in children with spina bifida include hydrocephalus and the Arnold-Chiari type II malformation. Despite the physical and particular learning disabilities children with spina bifida must cope with, participation in individualized educational programs can allow these children to develop skills necessary for autonomy in adulthood. Advances in research to uncover the molecular basis of NTDs is enhanced by knowledge of the link between both the environmental and genetic factors involved in the etiology of NTDs. The most recent development in NTD research for disease-causing genes is the discovery of a genetic link to the most well-known environmental cause of neural tube malformation, folate deficiency in pregnant women. Nearly a decade ago, periconceptional folic acid supplementation was proven to decrease both the recurrence and occurrence of NTDs. The study of folate and its association with NTDs is an ongoing endeavor that has led to numerous studies of different genes involved in the folate metabolism pathway, including the most commonly studied thermolabile mutation (C677T) in the MTHFR gene. An additional focus for NTD research involves mouse models that exhibit both naturally occurring NTDs, as well as those created by experimental design. We hope the search for genes involved in the risk and/or development of NTDs will lead to the development of strategies for prevention and treatment. The most recent achievement in treatment of NTDs involves the repair of meningomyelocele through advancements in fetal surgery. Convincing experimental evidence exists that in utero repair preserves neurologic function, as well as resolving the hydrocephalus and Arnold-Chiari malformation that often accompany meningomyelocele defects. However, follow-up is needed to completely evaluate long-term neurologic function and overall improved quality of life. And in the words of Olutoye and Adzick, "until the benefits of fetal [meningomyelocele] repair are carefully elucidated, weighed against maternal and fetal risks, and compared to conventional postnatal therapy, this procedure should be restricted to a few centers that are committed (clinically and experimentally) to investigating these issues."

The lack of comprehensive care causing complications in patients with myelodysplasia.

In recent years those working in German SCI centres have realised that a growing number of young adults with myelodysplasia are seeking special treatment because of the lack of comprehensive and lifelong care. Statistical investigations, collected over a period of nine years, demonstrate that only severe complications in soft tissues, urology and equipment have led to an admission. The capacity of the centres is limited, and more facilities are necessary. There is a political demand.

Intravesical bladder stimulation in myelodysplasia.

Intravesical transurethral bladder stimulation has been used as a diagnostic and rehabilitative technique in children with a neurogenic bladder for 3 years. The program has expanded from 10 to 42 patients undergoing a significant number of therapy sessions. The technique presently is done on an outpatient basis. The child is catheterized for 90 minutes and undergoes electrotherapy for 60 minutes, ideally 3 to 5 days per week. An individual series consists of 15 to 30 daily sessions. Presently, 62 patients have been evaluated and 42 have had a least 1 complete series. This ongoing program has provided more data to classify better patients who can expect success with the program. Of the patients who presented initially with detrusor contractions and areflexia 80 and 33 per cent, respectively, can expect to void to completion or have full sensation so as to perform timely clean intermittent catheterization. A total of 21 patients underwent at least 3 series, and 38 per cent void with low pressure and total continence.