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Journal of Advanced Nursing Feb 2021To identify the components of transition programs for the successful transition of adolescents and young adults with spina bifida and to synthesize the literature... (Review)
Review
AIMS
To identify the components of transition programs for the successful transition of adolescents and young adults with spina bifida and to synthesize the literature findings on the transition outcomes of the programs.
DESIGN
Mixed-methods systematic review.
DATA SOURCES
PubMed, CINAHL, PsycINFO, and Web of Science (January 2010-June 2019).
REVIEW METHODS
The methodological quality was appraised using the Mixed Methods Appraisal Tool and Cochrane Risk of Bias Tool. Extracted data were summarized as tables. For data synthesis, a sequential explanatory design was used.
RESULTS
Eight studies were selected. The main components of the transition programs identified the participants' characteristics and intervention strategies. Quantitative studies reported only positive transition outcomes, including independence and satisfaction with social support and transition experience, whereas negative outcomes such as negative experiences communicating with providers and uncertainty were further reported in qualitative studies.
CONCLUSION
For development and implementation of a successful transition program, it is necessary to assess the characteristics and needs of the participants and incorporate their needs with input from parents and trained healthcare providers.
IMPACT
When planning transition programs, a comprehensive effort that encompasses program development, implementation, and evaluation, based on developmental tasks and long-term perspectives, is needed. Transition program that reflect the cultural characteristics of Eastern and developing countries are needed.
Topics: Adolescent; Health Personnel; Humans; Parents; Qualitative Research; Social Support; Spinal Dysraphism; Transitional Care; Young Adult
PubMed: 33222278
DOI: 10.1111/jan.14651 -
British Journal of Neurosurgery Oct 2022Despite the evident clinical, neurological, orthopedic, and urodynamic dysfunctions, neuroanatomic imaging is normal in patients with occult tethered cord syndrome... (Review)
Review
BACKGROUND AND OBJECTIVES
Despite the evident clinical, neurological, orthopedic, and urodynamic dysfunctions, neuroanatomic imaging is normal in patients with occult tethered cord syndrome (OTCS). Therefore, the diagnosis of OTCS can be very complex. In this regard, this systematic review aimed to determine the main clinical features (i.e. neurological, musculoskeletal, and urological abnormalities) and improvement rates of these symptoms in patients with OTCS after the section of the filum terminale (SFT).
MATERIALS AND METHODS
All the papers published in three electronic databases, namely Google Scholar, PubMed, and Web of Science, were searched for the purposes of this study. The searching process started on 15 October and lasted until 9 November 2020. Eventually, 10 reports were found about the clinical outcomes of SFT for the management of the OTCS.
RESULTS
The included studies were carried out on a total of 234 patients with OTCS, all of whom had undergone SFT. Evaluation of urologic symptoms revealed that 40-100% of patients with OTCS suffered from urinary instability. Moreover, its improvement rate after SFT was estimated at 59-100%. Evaluation of neurological symptoms indicated that 25-69% of patients with OTCS suffered from back/leg pain, And its improvement rate, the symptoms of back/leg pain of all patients were resolved or improved after SFT. Lower extremity weakness was found in 9-40% of patients with OTCS which was resolved or improved after SFT in about 25-100% of patients. Nevertheless, surgical indications for occult tight filum terminale syndrome remain controversial.
CONCLUSION
Although it seems that the SFT in OTCS patients is promising in treating neurologic, orthopedic and urological symptoms, usage of surgical untethering for patients with OTCS is a controversial issue. Clinical evaluation and urodynamic testing can be used to identify patients with OTCS. However, a multidisciplinary diagnostic work-up is strongly recommended for every child with OTCS.
Topics: Child; Humans; Neural Tube Defects; Cauda Equina; Back Pain
PubMed: 34709093
DOI: 10.1080/02688697.2021.1995589 -
Neurology Jun 2024This practice guideline provides updated evidence-based conclusions and recommendations regarding the effects of antiseizure medications (ASMs) and folic acid...
This practice guideline provides updated evidence-based conclusions and recommendations regarding the effects of antiseizure medications (ASMs) and folic acid supplementation on the prevalence of major congenital malformations (MCMs), adverse perinatal outcomes, and neurodevelopmental outcomes in children born to people with epilepsy of childbearing potential (PWECP). A multidisciplinary panel conducted a systematic review and developed practice recommendations following the process outlined in the 2017 edition of the American Academy of Neurology Clinical Practice Guideline Process Manual. The systematic review includes studies through August 2022. Recommendations are supported by structured rationales that integrate evidence from the systematic review, related evidence, principles of care, and inferences from evidence. The following are some of the major recommendations. When treating PWECP, clinicians should recommend ASMs and doses that optimize both seizure control and fetal outcomes should pregnancy occur, at the earliest possible opportunity preconceptionally. Clinicians must minimize the occurrence of convulsive seizures in PWECP during pregnancy to minimize potential risks to the birth parent and to the fetus. Once a PWECP is already pregnant, clinicians should exercise caution in attempting to remove or replace an ASM that is effective in controlling generalized tonic-clonic or focal-to-bilateral tonic-clonic seizures. Clinicians must consider using lamotrigine, levetiracetam, or oxcarbazepine in PWECP when appropriate based on the patient's epilepsy syndrome, likelihood of achieving seizure control, and comorbidities, to minimize the risk of MCMs. Clinicians must avoid the use of valproic acid in PWECP to minimize the risk of MCMs or neural tube defects (NTDs), if clinically feasible. Clinicians should avoid the use of valproic acid or topiramate in PWECP to minimize the risk of offspring being born small for gestational age, if clinically feasible. To reduce the risk of poor neurodevelopmental outcomes, including autism spectrum disorder and lower IQ, in children born to PWECP, clinicians must avoid the use of valproic acid in PWECP, if clinically feasible. Clinicians should prescribe at least 0.4 mg of folic acid supplementation daily preconceptionally and during pregnancy to any PWECP treated with an ASM to decrease the risk of NTDs and possibly improve neurodevelopmental outcomes in the offspring.
Topics: Humans; Anticonvulsants; Pregnancy; Female; Epilepsy; Pregnancy Complications; Prenatal Exposure Delayed Effects; Neurodevelopmental Disorders; Abnormalities, Drug-Induced; Teratogenesis; Infant, Newborn
PubMed: 38748979
DOI: 10.1212/WNL.0000000000209279 -
The Science of the Total Environment Feb 2024Exposure to pesticides during pregnancy has been associated with several serious congenital malformations, such as neural tube defects, therefore, is a cause for concern... (Review)
Review
Exposure to pesticides during pregnancy has been associated with several serious congenital malformations, such as neural tube defects, therefore, is a cause for concern in terms of human health. This review aims to gather information related to maternal exposure during pregnancy and the risk of triggering neural tube defects in the offspring. The search strategy for the studies followed the PRISMA guidelines. We conducted a systematic search in the Science Direct, PubMed, Cochrane Library, Embase, Scopus, and Web of Science databases for all epidemiological studies that sought to associate exposure to pesticides during embryonic development with the risk of neural tube defects (NTDs). The keywords used were "pesticide", "herbicide", "congenital" and "neural". Of the 229 articles, 8 eligible ones (7 case-control and 1 cross-sectional) evaluated pesticide exposure in pregnancy. Different methods were used, including analysis of biological samples and questionnaires. The pesticides studied included insecticides, herbicides, fungicides, and nematicides. Insecticides were the most studied, with variations in concentrations between tissues and studies. Distinct levels of pesticides have been detected in maternal serum, placenta, and umbilical cord. Models were statistically adjusted for confounding factors, such as smoking and dietary supplement intakes. Concentrations were measured in different exposure windows (periconception and prenatal), related to NTDs such as anencephaly and spina bifida. Different data collection techniques, types of biological samples, and exposure windows were used, which made comparison difficult. The main pesticides studied included DDT, DDE, HCH, and endosulfan. Maternal serum showed the highest concentrations of pesticides, but detection in placental tissue and umbilical cord confirms embryonic exposure. Confounding variables were adjusted for in the analysis of the articles, but they may still contribute to the risk of NTDs. All the studies analyzed pesticide exposure and the relationship with NTDs. However, a more standardized survey would be ideal for better comparisons.
Topics: Female; Humans; Pregnancy; Pesticides; Insecticides; Cross-Sectional Studies; Placenta; Neural Tube Defects; Herbicides; Risk Factors
PubMed: 38104833
DOI: 10.1016/j.scitotenv.2023.169317 -
Genes Oct 2021The maternal environment during the periconceptional period influences foetal growth and development, in part, via epigenetic mechanisms moderated by one-carbon... (Review)
Review
The maternal environment during the periconceptional period influences foetal growth and development, in part, via epigenetic mechanisms moderated by one-carbon metabolic pathways. During embryonic development, one-carbon metabolism is involved in brain development and neural programming. Derangements in one-carbon metabolism increase (i) the short-term risk of embryonic neural tube-related defects and (ii) long-term childhood behaviour, cognition, and autism spectrum disorders. Here we investigate the association between maternal one-carbon metabolism and foetal and neonatal brain growth and development. Database searching resulted in 26 articles eligible for inclusion. Maternal vitamin B, vitamin B, homocysteine, and choline were not associated with foetal and/or neonatal head growth. First-trimester maternal plasma folate within the normal range (>17 nmol/L) associated with increased foetal head size and head growth, and high erythrocyte folate (1538-1813 nmol/L) with increased cerebellar growth, whereas folate deficiency (<7 nmol/L) associated with a reduced foetal brain volume. Preconceptional folic acid supplement use and specific dietary patterns (associated with increased B vitamins and low homocysteine) increased foetal head size. Although early pregnancy maternal folate appears to be the most independent predictor of foetal brain growth, there is insufficient data to confirm the link between maternal folate and offspring risks for neurodevelopmental diseases.
Topics: Brain; Carbon; Embryonic Development; Female; Fetal Development; Fetus; Folic Acid; Humans; Pregnancy; Vitamin B 12
PubMed: 34681028
DOI: 10.3390/genes12101634 -
The Journal of Craniofacial SurgeryEncephaloceles rarely develop following traumatic skull fractures. Given their low incidence, the clinical presentations and management strategies of these lesions are...
Encephaloceles rarely develop following traumatic skull fractures. Given their low incidence, the clinical presentations and management strategies of these lesions are confined to case reports and limited case series. A systematic literature review was performed using PubMed, Ovid, and Web of Science databases to identify relevant articles using Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. A total of 37 articles met inclusion criteria, including the case presented herein. These articles reported 52 traumatic encephaloceles. Mean patient age was 25.3 years (range 6 mo-66 y) with a male predominance (63%, 33/52). The most common bony defects resulting in encephalocele formation were the orbital roof (52%, 27/52), ethmoid (35%, 18/52), and sphenoid (10%, 5/52). Mean time from traumatic injury to initial presentation was 21.3 months (range 0 d-36 y) with a bimodal distribution split between immediately following the traumatic injury (57%, 26/46) or in a delayed manner (43%, 20/46). Common presentations of orbital roof, frontonasal, and temporal bone encephaloceles were exophthalmos (85%, 23/27), cerebrospinal fluid rhinorrhea (71%, 17/24), and hearing loss (100%, 4/4), respectively. Operative approach, repair technique, and materials used for encephalocele reduction were highly variable. Surgical intervention afforded definitive symptomatic improvement or resolution in the majority of cases (89%, 42/47). Clinical outcomes did not differ between orbital, frontonasal, or temporal bone encephaloceles ( P =0.438). Traumatic encephaloceles are a rare entity with diverse presenting symptomatology dependent upon the location of fracture dehiscence. Surgical intervention affords symptomatic improvement in the majority of cases irrespective of encephalocele location, time to presentation, or operative approach.
Topics: Humans; Male; Child; Female; Encephalocele; Cerebrospinal Fluid Rhinorrhea; Temporal Bone; Orbit; Hearing Loss
PubMed: 36000749
DOI: 10.1097/SCS.0000000000008955 -
European Spine Journal : Official... Mar 2021To compare the clinical and radiological outcomes in patients with congenital scoliosis (CS) and tethered cord syndrome (TCS) undergoing deformity correction with (NI... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
To compare the clinical and radiological outcomes in patients with congenital scoliosis (CS) and tethered cord syndrome (TCS) undergoing deformity correction with (NI group) versus without (NNI group) prior neurosurgical intervention aimed at detethering the cord.
METHODS
A systematic review and meta-analysis were performed. The databases PubMed, Embase and Google Scholar were searched until March 2020. Inclusion criteria was studied describing performance of deformity correction and fusion surgery for congenital scoliosis with tethered cord syndrome with or without prior detethering procedure. Studies describing growth sparing procedures or congenital scoliosis associated with non-tethering pathologies such as syrinx were excluded. Case reports and series with less than 10 subjects were also excluded. NIH quality assessment tool was used for assessing quality of individual study.
RESULTS
Sixteen studies were included for analysis of which eight were found to be retrospective case series (level IV evidence) and retrospective case-control studies (level III evidence) each. Overall proportional meta-analysis found no significant difference in correction rate, operative duration, blood loss or complication rate between the NI and NNI groups. However, subgroup analysis performed after inclusion of only level III evidence studies revealed significantly lesser operative duration and blood loss with comparable correction and complication rate in NNI group.
CONCLUSION
Deformity correction and fusion surgery may be performed safely and effectively in CS with TCS patients without the need of a prior detethering procedure.
Topics: Humans; Neural Tube Defects; Retrospective Studies; Scoliosis; Syringomyelia; Treatment Outcome
PubMed: 33201289
DOI: 10.1007/s00586-020-06662-7 -
The Cochrane Database of Systematic... Jan 2024Vitamin B deficiency is a major public health problem worldwide, with the highest burden in elderly people, pregnant women, and young children. Due to its role in DNA...
BACKGROUND
Vitamin B deficiency is a major public health problem worldwide, with the highest burden in elderly people, pregnant women, and young children. Due to its role in DNA synthesis and methylation, folate metabolism, and erythropoiesis, vitamin B supplementation during pregnancy may confer longer-term benefits to maternal and child health outcomes.
OBJECTIVES
To evaluate the benefits and harms of oral vitamin B supplementation during pregnancy on maternal and child health outcomes.
SEARCH METHODS
We searched the Cochrane Pregnancy and Childbirth's Trials Register, ClinicalTrials.gov, the World Health Organization International Clinical Trials Registry Platform (ICTRP) on 2 June 2023, and reference lists of retrieved studies.
SELECTION CRITERIA
Randomised controlled trials (RCTs), quasi-RCTs, or cluster-RCTs evaluating the effects of oral vitamin B supplementation compared to placebo or no vitamin B supplementation during pregnancy.
DATA COLLECTION AND ANALYSIS
We used standard Cochrane methods. Four review authors independently assessed trial eligibility. Two review authors independently extracted data from included studies and conducted checks for accuracy. Three review authors independently assessed the risk of bias of the included studies using the Cochrane RoB 1 tool. We used GRADE to evaluate the certainty of evidence for primary outcomes.
MAIN RESULTS
The review included five trials with 984 pregnant women. All trials were conducted in low- and middle-income countries, including India, Bangladesh, South Africa, and Croatia. At enrolment, 26% to 51% of pregnant women had vitamin B deficiency (less than 150 pmol/L), and the prevalence of anaemia (haemoglobin less than 11.0 g/dL) ranged from 30% to 46%. The dosage of vitamin B supplementation varied from 5 μg/day to 250 μg/day, with administration beginning at 8 to 28 weeks' gestation through to delivery or three months' postpartum, and the duration of supplementation ranged from 8 to 16 weeks to 32 to 38 weeks. Three trials, involving 609 pregnant women, contributed data for meta-analyses of the effects of vitamin B supplementation compared to placebo or no vitamin B supplementation. Maternal anaemia: there may be little to no difference for maternal anaemia by intervention group, but the evidence is very uncertain (70.9% versus 65.0%; risk ratio (RR) 1.08, 95% confidence interval (CI) 0.93 to 1.26; 2 trials, 284 women; very low-certainty evidence). Maternal vitamin B status: vitamin B supplementation during pregnancy may reduce the risk of maternal vitamin B deficiency compared to placebo or no vitamin B supplementation, but the evidence is very uncertain (25.9% versus 67.9%; RR 0.38, 95% CI 0.28 to 0.51; 2 trials, 272 women; very low-certainty evidence). Women who received vitamin B supplements during pregnancy may have higher total vitamin B concentrations compared to placebo or no vitamin B supplementation (mean difference (MD) 60.89 pmol/L, 95% CI 40.86 to 80.92; 3 trials, 412 women). However, there was substantial heterogeneity (I = 85%). Adverse pregnancy outcomes: the evidence is uncertain about the effect on adverse pregnancy outcomes, including preterm birth (RR 0.97, 95% CI 0.55 to 1.74; 2 trials, 340 women; low-certainty evidence), and low birthweight (RR 1.50, 95% CI 0.93 to 2.43; 2 trials, 344 women; low-certainty evidence). Two trials reported data on spontaneous abortion (or miscarriage); however, the trials did not report quantitative data for meta-analysis and there was no clear definition of spontaneous abortion in the study reports. No trials evaluated the effects of vitamin B supplementation during pregnancy on neural tube defects. Infant vitamin B status: children born to women who received vitamin B supplementation had higher total vitamin B concentrations compared to placebo or no vitamin B supplementation (MD 71.89 pmol/L, 95% CI 20.23 to 123.54; 2 trials, 144 children). Child cognitive outcomes: three ancillary analyses of one trial reported child cognitive outcomes; however, data were not reported in a format that could be included in quantitative meta-analyses. In one study, maternal vitamin B supplementation did not improve neurodevelopment status (e.g. cognitive, language (receptive and expressive), motor (fine and gross), social-emotional, or adaptive (conceptual, social, practical) domains) in children compared to placebo (9 months, Bayley Scales of Infant and Toddler Development Third Edition (BSID-III); 1 trial; low-certainty evidence) or neurophysiological outcomes (72 months, event-related potential measures; 1 trial; low-certainty evidence), though children born to women who received vitamin B supplementation had improved expressive language domain compared to placebo (30 months, BSID-III; 1 trial; low-certainty evidence).
AUTHORS' CONCLUSIONS
Oral vitamin B supplementation during pregnancy may reduce the risk of maternal vitamin B deficiency and may improve maternal vitamin B concentrations during pregnancy or postpartum compared to placebo or no vitamin B supplementation, but the evidence is very uncertain. The effects of vitamin B supplementation on other primary outcomes assessed in this review were not reported, or were not reported in a format for inclusion in quantitative analyses. Vitamin B supplementation during pregnancy may improve maternal and infant vitamin B status, but the potential impact on longer-term clinical and functional maternal and child health outcomes has not yet been established.
Topics: Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Pregnancy; Abortion, Spontaneous; Anemia; Dietary Supplements; Outcome Assessment, Health Care; Vitamin B 12; Vitamins
PubMed: 38189492
DOI: 10.1002/14651858.CD013823.pub2 -
Reproductive Health Oct 2022Anencephaly is a fatal congenital anomaly characterized by the absence of brain hemispheres and cranial arch. Timely preventive measures can be taken by knowing the... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Anencephaly is a fatal congenital anomaly characterized by the absence of brain hemispheres and cranial arch. Timely preventive measures can be taken by knowing the exact prevalence of this common neural tube defect; thus, carried out through systematic review and meta-analysis, the present study was conducted to determine the worldwide prevalence, incidence and mortality of anencephaly.
METHODS
Cochran's seven-step instructions were used as the guideline. Having determined the research question and inclusion and exclusion criteria, we studied MagIran, SID, Science Direct, WoS, Web of Science, Medline (PubMed), Scopus, and Google Scholar databases. Moreover, the search strategy in each database included using all possible keyword combinations with the help of "AND" and "OR" operators with no time limit to 2021. The I test was used to calculate study heterogeneity, and Begg and Mazumdar rank correlation tests were employed to assess the publication bias. Data were analyzed by Comprehensive Meta-Analysis software (Version 2).
RESULTS
In this study, the statements of Preferred Reporting Items for Systematic Reviews and Meta-Analyzes (PRISMA) were used. In the first stage, 1141 articles were found, of which 330 duplicate studies were omitted. 371 articles were deleted based on the inclusion and exclusion criteria by reviewing the title and abstract of the study. 58 articles were removed by reviewing the full text of the article because it was not relevant to the research. 360 studies with a sample size of 207,639,132 people were considered for the meta-analysis. Overall estimate of the prevalence, incidence and attenuation of anencephaly worldwide were 5.1 per ten thousand births (95% confidence interval 4.7-5.5 per ten thousand births), 8.3 per ten thousand births (95% confidence interval 5.5-9.9 per ten thousand births), 5.5 per ten thousand births (95% confidence interval 1.8-15 per ten thousand births) respectively the highest of which according to the subgroup analysis, belonged to the Australian continent with 8.6 per ten thousand births (95% confidence interval 7.7-9.5 per ten thousand births).
CONCLUSION
The overall prevalence of anencephaly in the world is significant, indicating the urgent need for preventive and treating measures.
Topics: Anencephaly; Australia; Humans; Neural Tube Defects; Prevalence
PubMed: 36253858
DOI: 10.1186/s12978-022-01509-4 -
Jornal de Pediatria 2023To map available scientific evidence about the pediatric population with spina bifida submitted to transanal irrigation to manage signs and symptoms of neurogenic bowel. (Review)
Review
OBJECTIVE
To map available scientific evidence about the pediatric population with spina bifida submitted to transanal irrigation to manage signs and symptoms of neurogenic bowel.
SOURCE OF DATA
This research was developed according to recommendations from the Joanna Briggs Institute Reviewers' Manual and the PRISMA Extension for Scoping Reviews. Searches were carried out in the databases: CINAHL, Medline/Pubmed, Scielo, Scopus, Web of Science, Embase, LILACS, Proquest, and the CAPES catalog of theses and dissertations. Quantitative and qualitative studies on the topic were included, as long as they dealt with this population. There was no predetermined time frame.
SUMMARY OF THE FINDINGS
The authors found 1.020 studies, selected 130 for close reading, and included 23 in the review, all of which had been published from 1989 to 2021. The authors mapped the characteristics of the studies, including their definitions of concepts and use of scales, criteria for the indication of transanal irrigation, training to carry out the procedure, devices and solutions used, number and frequency of transanal irrigations, health care actions, time spent, associated complications, complementary exams, adherence rate, follow-up, and outcomes, focusing on the benefits for bowel management.
CONCLUSIONS
Despite the variability of evaluation parameters and term definitions, evidence suggests that transanal irrigation is a safe and effective method to manage fecal incontinence. Studies in the field are likely to grow, using standardized scales and longitudinal follow-ups. The authors suggest further research on transanal irrigation in the pediatric population with spina bifida in the Latin American context.
Topics: Humans; Child; Neurogenic Bowel; Constipation; Therapeutic Irrigation; Fecal Incontinence; Spinal Dysraphism
PubMed: 36852756
DOI: 10.1016/j.jped.2023.02.001