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Comprehensive Child and Adolescent... Jun 2024This paper focuses on an innovative approach to preparing children and young people, with Spina Bifida, to move from child-centered to adult-oriented healthcare systems....
This paper focuses on an innovative approach to preparing children and young people, with Spina Bifida, to move from child-centered to adult-oriented healthcare systems. Reflecting on our role in delivering a national nurse led service, we set to identify and critique international transition tools in use for this population. Specifically, we aimed to identify the core capabilities and indicators of progression to successful transition, so that holistic interventions could be planned to match the needs of individuals and their carers. There were two phases to the study, initially focusing on a systematic literature review on transition tools and the specific items that these tools captured, including skills, abilities and behaviors. Phase two culminated in the articulation of a segmented and incremental "road map", aligned with facets deemed essential for a successful healthcare transition. The reporting of the literature review (phase one) followed the PRISMA guidelines and shaped the qualitative element of the study (phase two) through the use of semi-structured interviews and thematic analysis. The search strategy yielded 11 studies, which were then manually searched for other relevant literature, adding a further 14 articles. The review analyzed 7 specific tools for spina bifida and 8 generic tools, which were deemed appropriate for this group of patients. A comprehensive list of core capabilities was then articulated and framed to fit a progression timeline. Specific interventions were formulated to explore ways to co-produce resources that could enhance and support a planned transition to adult-focused services. Our proposed mapping of capabilities and progression could shape other transition programs, where nurses work collaboratively with young people, carers and other members of a team. More work is needed to further explore and embed the framework that, as we did, could be digitized and shared with all stakeholders involved in the transition process.
Topics: Humans; Spinal Dysraphism; Transition to Adult Care; Adolescent; Adult; Child; Qualitative Research
PubMed: 38713540
DOI: 10.1080/24694193.2024.2348830 -
Neurological Sciences : Official... Apr 2024Anti-N-methyl-D-aspartate receptor (NMDAr) antibody encephalitis is an autoimmune disorder characterized by synaptic NMDAr current disruption and receptor hypofunction,... (Review)
Review
INTRODUCTION
Anti-N-methyl-D-aspartate receptor (NMDAr) antibody encephalitis is an autoimmune disorder characterized by synaptic NMDAr current disruption and receptor hypofunction, often affecting women during pregnancy. Clinical manifestations associated with anti-NMDAr encephalitis can occur both in the mother and fetus.
METHODS
We generated a systematic search of the literature to identify epidemiological, clinical, and serological data related to pregnant women with anti-NMDAr encephalitis and their children, analyzing the fetal outcomes. We examined the age and neurologic symptoms of the mothers, the presence of an underlying tumor, immunotherapies used during pregnancy, duration of the pregnancy, and type of delivery.
RESULTS
Data from 41 patients were extrapolated from the included studies. Spontaneous interruption of pregnancy, premature birth, and cesarean section were reported in pregnant women with NMDAr encephalitis. Several fetal and neonatal symptoms (e.g., movement disorders, spina bifida, poor sucking, respiratory distress, cardiac arrhythmias, infections, icterus, hypoglycemia, and low birth weight) depending on the mother's serum anti-NR1 concentration were also reported.
CONCLUSIONS
We characterized the outcomes of children born from mothers with anti-NMDAr encephalitis, analyzing the pivotal risk factors related to pregnancy and maternal disorder. Neuropsychiatric involvement seems strictly related to pathogenic NMDAr antibodies detected in maternal and/or neonatal serum. These findings clarify a complex condition to manage, outlining the risks associated with pregnant women with anti-NMDAr encephalitis and also providing a concrete guide for therapeutic strategies to prevent potential harm to the fetus and the child's neurodevelopment.
PubMed: 38656594
DOI: 10.1007/s10072-024-07448-1 -
Ultrasound in Obstetrics & Gynecology :... Mar 2024To assess diagnostic accuracy of 2D ultrasound at 11-14 weeks gestation as a screening test for individual fetal anomalies and identify screening factors impacting... (Review)
Review
OBJECTIVES
To assess diagnostic accuracy of 2D ultrasound at 11-14 weeks gestation as a screening test for individual fetal anomalies and identify screening factors impacting detection.
METHODS
Systematic review and meta-analysis, developed and registered with PROSPERO (CRD42018111781). MEDLINE, EMBASE, Web of Science Core Collection and The Cochrane Library) were searched for studies evaluating the diagnostic accuracy of screening for 16 pre-specified, non-cardiac, congenital anomalies considered to be of interest to the early anomaly scan. We included prospective and retrospective studies from any healthcare setting and low risk, mixed risk and unselected populations. The reference standard was the detection of an anomaly on postnatal or post-mortem examination. Data were extracted to populate 2 x 2 tables and meta-analysis (random-effects model) undertaken to determine the diagnostic accuracy of screening for the pre-specified anomalies (individually and as a composite). Secondary analyses were performed to determine the impact of (1) imaging protocol (2) ultrasound modality (3) publication year and (4) index of sonographer suspicion at time of scan. Post-hoc secondary analysis was conducted to assess performance for studies from 2010. Risk of bias and quality assessment was undertaken for included studies using the Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2).
RESULTS
From 5684 citations, 202 papers were identified as eligible and reviewed, resulting in the inclusion of 526,322 fetuses (52 studies) of which 2,399 were affected by one or more of the 16 anomalies. Individual anomalies were not equally amenable to detection on first trimester ultrasound ranging from high (>80%) detection rates for severe conditions including acrania (98%), gastroschisis (96%) and exomphalos (95%) and holoprosencephaly (88%); they were lower for open spina bifida (69%), lower urinary tract obstruction (66%) lethal skeletal dysplasias (57%) and limb reduction defects (50%) and below 50% for facial clefts (43%), polydactyly (40%) and congenital diaphragmatic hernia (38). Conditions with low (<30%) detection rates included bilateral renal agenesis (25%), closed spina bifida (21%), isolated cleft lip only (14%) and talipes (11%). Specificity was >99% for all anomalies. Secondary analysis showed improvement of detection with publication year, and that the use of imaging protocols had a statistically significant impact on screening performance (p<0.0001).
CONCLUSIONS
Accurate detection of congenital anomalies using first trimester ultrasound is feasible. In this study we have determined screening characteristics for individual anomalies and have shown that detection rates and false positive rates are dependent on the type of anomaly. The use of a standardised protocol allows diagnostic performance to be maximised, and this particularly enhances screening performance for the detection of spina bifida, facial clefts and limb reduction defects. Highlighting the types of anomalies amenable to diagnosis and determining favourable screening test factors can support the development of first-trimester anomaly screening programs. This article is protected by copyright. All rights reserved.
PubMed: 38547384
DOI: 10.1002/uog.27649 -
The Bone & Joint Journal Mar 2024Children with spinal dysraphism can develop various musculoskeletal deformities, necessitating a range of orthopaedic interventions, causing significant morbidity, and...
AIMS
Children with spinal dysraphism can develop various musculoskeletal deformities, necessitating a range of orthopaedic interventions, causing significant morbidity, and making considerable demands on resources. This systematic review aimed to identify what outcome measures have been reported in the literature for children with spinal dysraphism who undergo orthopaedic interventions involving the lower limbs.
METHODS
A PROSPERO-registered systematic literature review was performed following PRISMA guidelines. All relevant studies published until January 2023 were identified. Individual outcomes and outcome measurement tools were extracted verbatim. The measurement tools were assessed for reliability and validity, and all outcomes were grouped according to the Outcome Measures Recommended for use in Randomized Clinical Trials (OMERACT) filters.
RESULTS
From 91 eligible studies, 27 individual outcomes were identified, including those related to clinical assessment (n = 12), mobility (n = 4), adverse events (n = 6), investigations (n = 4), and miscellaneous (n = 1). Ten outcome measurement tools were identified, of which Hoffer's Functional Ambulation Scale was the most commonly used. Several studies used unvalidated measurement tools originally developed for other conditions, and 26 studies developed new measurement tools. On the OMERACT filter, most outcomes reported pathophysiology and/or the impact on life. There were only six patient- or parent-reported outcomes, and none assessed the quality of life.
CONCLUSION
The outcomes that were reported were heterogenous, lack validation and failed to incorporate patient or family perceptions. Until outcomes can be reported unequivocally, research in this area will remain limited. Our findings should guide the development of a core outcome set, which will allow consistency in the reporting of outcomes for this condition.
Topics: Child; Humans; Orthopedics; Quality of Life; Reproducibility of Results; Outcome Assessment, Health Care; Spinal Dysraphism
PubMed: 38423096
DOI: 10.1302/0301-620X.106B3.BJJ-2023-0916.R1 -
Journal of Neurosurgery. Pediatrics Apr 2024Despite the high prevalence and significant implications of pediatric hydrocephalus, the etiological distribution of pediatric hydrocephalus across the diverse Asian... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
Despite the high prevalence and significant implications of pediatric hydrocephalus, the etiological distribution of pediatric hydrocephalus across the diverse Asian demographic is poorly understood. This study aimed to inform clinical guidelines and public health decisions by identifying the etiological distribution of pediatric hydrocephalus across Asia.
METHODS
In this systematic review and meta-analysis, the authors searched EMBASE, MEDLINE, CENTRAL, Global Health, Global Index Medicus, and Scopus, with no language restriction, from inception to January 27, 2023. Observational or experimental studies with pediatric data on the causes of hydrocephalus in a country within Asia were included. Pooled proportions of postinfectious hydrocephalus, nonpostinfectious hydrocephalus, and hydrocephalus related to spinal dysraphism were calculated using a random-effects model. Subgroup analyses were performed on prespecified moderators. Methodological study quality was assessed using the modified Newcastle-Ottawa Score and Cochrane's risk-of-bias tool as per the registered protocol on PROSPERO.
RESULTS
The search yielded 5110 results, for which 79 articles were included, with data on 11,529 children from 18 Asian countries. The pooled proportion of nonpostinfectious hydrocephalus was 29.0% (95% CI 22.9-35.5); postinfectious hydrocephalus was 10.7% (95% CI 7.7-14.1); and hydrocephalus secondary to dysraphism was 7.6% (95% CI 5.1-10.5). The pooled proportion of postinfectious hydrocephalus was greatest in lower-middle-income countries (19.2% [95% CI 12.8-26.3]). There was a negative association between the proportion of postinfectious hydrocephalus and Human Development Index (-1.45 [95% CI -2.21 to -0.69]; p < 0.001); urbanization of the country (-0.008 [95% CI -0.012 to -0.004]; p < 0.001); and increasing distance from the equator (-0.016 [95% CI -0.026 to -0.006]; p = 0.002). The pooled proportion of nonpostinfectious hydrocephalus was greatest in high-income countries (36.7% [95% CI 27.6-46.3]). Certain etiologies of pediatric hydrocephalus were more common in different cultural regions, with postinfectious hydrocephalus most common in South Asia (23.2% [95% CI 15.8-31.5]); nonpostinfectious in East Asia (38.3% [95% CI 26.6-50.7]); and dysraphism in West Asia (11.9% [95% CI 6.4-18.8]).
CONCLUSIONS
Geographic and economic characteristics are associated with the etiological distribution of pediatric hydrocephalus in Asia, with implications for prevention and management strategies. The large proportion of hydrocephalus cases in which the etiology was unclear highlights the need for both improved diagnostics as well as clear and strict universal guidelines on the etiological classification of hydrocephalus.
Topics: Child; Humans; Asia; Hydrocephalus; Income; Neural Tube Defects; Prevalence
PubMed: 38181497
DOI: 10.3171/2023.11.PEDS23389 -
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 -
BMJ Open Nov 2023This study aims to estimate the prevalence of neural tube defects (NTDs) and to identify potential risk factors in the Ethiopian context. (Meta-Analysis)
Meta-Analysis
OBJECTIVE
This study aims to estimate the prevalence of neural tube defects (NTDs) and to identify potential risk factors in the Ethiopian context.
STUDY DESIGN
Systematic review and meta-analysis.
STUDY PARTICIPANTS
A total of 611 064 participants were included in the review obtained from 42 studies.
METHODS
PubMed (Medline), Embase and Cochrane Library databases in combination with other potential sources of literature were systematically searched, whereby studies conducted between January 2010 and December 2022 were targeted in the review process. All observational studies were included and heterogeneity between studies was verified using Cochrane Q test statistics and I test statistics. Small study effects were checked using Egger's statistical test at a 5% significance level.
RESULT
The pooled prevalence of all NTDs per 10 000 births in Ethiopia was 71.48 (95% CI 57.80 to 86.58). The between-study heterogeneity was high (I= 97.49%, p<0.0001). Birth prevalence of spina bifida (33.99 per 10 000) was higher than anencephaly (23.70 per 10 000), and encephalocele (4.22 per 10 000). Unbooked antenatal care (AOR 2.26, 95% CI (1.30 to 3.94)), preconception intake of folic acid (AOR 0.41, 95% CI (0.26 to 0.66)), having chronic medical illness (AOR 2.06, 95% CI (1.42 to 2.99)), drinking alcohol (AOR 2.70, 95% CI (1.89 to 3.85)), smoking cigarette (AOR 2.49, 95% CI (1.51 to 4.11)), chewing khat (AOR 3.30, 95% CI (1.88 to 5.80)), exposure to pesticides (AOR 3.87, 95% CI (2.63 to 5.71)), maternal age ≥35 (AOR 1.90, 95% CI (1.13 to 3.25)), maternal low educational status (AOR 1.60, 95% CI (1.13 to 2.24)), residing in urban areas (AOR 0.75, 95% CI (0.58 to 0.97))and family history of NTDs (AOR 2.51, 95% CI (1.36 to 4.62)) were associated with NTD cases.
CONCLUSION
The prevalence of NTDs in Ethiopia is seven times as high as in other Western countries where prevention measures are put in place. Heredity, maternal and environmental factors are associated with a high prevalence of NTDs. Mandatory fortification of staple food with folic acid should be taken as a priority intervention to curb the burden of NTDs. To smoothen and overlook the pace of implementation of mass fortification, screening, and monitoring surveillance systems should be in place along with awareness-raising measures.
PROSPERO REGISTRATION NUMBER
CRD42023413490.
Topics: Female; Pregnancy; Humans; Prevalence; Ethiopia; Neural Tube Defects; Folic Acid; Risk Factors; Food, Fortified
PubMed: 37940152
DOI: 10.1136/bmjopen-2023-077685 -
Journal of Neurosurgery. Pediatrics Jan 2024Cervical saccular limited dorsal myeloschisis (LDM), previously so-called "cervical myelomeningocele," is a rare spinal dysraphism. Although the pathogenesis of true...
OBJECTIVE
Cervical saccular limited dorsal myeloschisis (LDM), previously so-called "cervical myelomeningocele," is a rare spinal dysraphism. Although the pathogenesis of true myelomeningocele is primary neurulation failure, LDM results from a delayed abnormality during the final stages of neurulation. The aim of the study was to evaluate the outcome of these patients and to assess the correlation of outcomes with the level and type of lesion. Also, pooled data from the literature on similar lesions were systematically reviewed.
METHODS
A retrospective study was conducted at Children's Medical Center (CMC), Tehran, Iran. Information of patients who underwent surgery between 2004 and 2020 (i.e., the recent series) was extracted and combined with data from a previously published series from the same center that were obtained between 2000 and 2003 (CMC series). The literature was reviewed for all published cases, to be combined with the CMC series for further analyses.
RESULTS
Twenty-two patients were included in the recent series. Combined with 16 previously published cases, 38 patients with a mean ± SD age at surgery of 11.75 ± 28.64 months were included in the CMC series. The rates of neurological deficit, hydrocephalus, and Chiari malformation type II in the CMC series were 26.32%, 39.47%, and 28.95%, respectively. The lesions were at the upper levels in 17 (44.7%) and lower cervical levels in 21 (55.3%) patients, with 31 cases (81.58%) diagnosed with stalk-type lesions and 7 cases (18.42%) with myelocystocele-type lesions. At final follow-up, 31 patients (81.57%) achieved sphincter continence, and all 36 accessible patients were ambulated, consisting of 28 (73.68%) independent and 8 (21.05%) dependent ambulation patients. The rates of Chiari malformation type II and hydrocephalus were insignificantly higher in patients with upper-level lesions, but those of neurological deficit, ambulation, and sphincter continence were not associated with level. The rates of hydrocephalus (p < 0.01), Chiari type II malformation (p < 0.01), and neurological deficit (p = 0.04) were significantly higher in the myelocystocele group. In the systematic review, 24.77% of patients had neurological deficit. Binary logistic regression showed that older age at surgery (p = 0.03) and associated spinal anomalies (p = 0.04) were significant predictors of deficits. Chiari type II malformation was significantly (p < 0.001) and hydrocephalus was marginally (p = 0.06) more common in patients with myelocystocele-type lesions. The rate of Chiari malformation type II was higher in patients with upper-level lesions (p = 0.02).
CONCLUSIONS
Patients with cervical saccular LDM had better outcome compared with those patients with true myelomeningocele in more distal areas. According to the current series, most patients obtained ambulation and voiding continence, regardless of the level or type of lesion. Hydrocephalus, Chiari type II malformation, and neurological deficit were more common in patients with myelocystocele-type lesions.
Topics: Child; Humans; Infant; Child, Preschool; Meningomyelocele; Arnold-Chiari Malformation; Follow-Up Studies; Retrospective Studies; Iran; Spinal Dysraphism; Hydrocephalus
PubMed: 37862714
DOI: 10.3171/2023.8.PEDS23271 -
Journal of Pediatric Urology Dec 2023To review the urological outcomes of proactive versus delayed management of children with a neurogenic bladder (NB). (Meta-Analysis)
Meta-Analysis Review
PURPOSE
To review the urological outcomes of proactive versus delayed management of children with a neurogenic bladder (NB).
METHODS
We performed a literature search on EMBASE, MEDLINE, Scopus, Web of Science, and Cochrane Central Register of Controlled Trials between January 1, 2000 to August 21, 2023 for studies investigating the management of spina bifida-associated NB in pediatric patients (0-18 years of age). Proactive management was defined as use of clean intermittent catheterization, and/or anticholinergics at presentation, or based on initial high-risk urodynamic findings by 1 year of age. Delayed management was defined as beginning management after 1 year of age or no intervention. Outcomes included incidence or diagnosis of secondary vesicoureteral reflux (VUR), urinary tract infection (UTI), and renal deterioration, which included renal scarring, loss of differential renal function on a nuclear scan, or a decrease in renal function defined by glomerular filtration rate or serum creatinine estimation. Forest plots were synthesized using the Inverse Variance method with random-effect model. The Risk of Bias was assessed using the ROBINS-I tool.
RESULTS
We included 8 observational studies on 652 pediatric patients with spina bifida-associated NB (mean follow-up - 7 years). Proactive management following initial assessment was associated with significantly lower risks of secondary VUR (OR 0.37 [0.19, 0.74], p = 0.004), non-febrile UTI (OR 0.35 [0.19, 0.62], p = 0.0004), and renal deterioration (OR 0.31 [0.20, 0.47], p < 0.00001).
DISCUSSION
Delayed management of NB potentially has 3 times higher risks of secondary VUR, non-febrile UTI, and renal deterioration. However, the evidence is limited by the high risk of bias due to lack of randomization and standardized reporting in observational studies.
CONCLUSION
While further well-defined prospective studies with long-term follow-up should be conducted to confirm this finding, this study supports the EAU/ESPU recommendations for early intervention in children with NB.
Topics: Child; Humans; Urinary Bladder, Neurogenic; Prospective Studies; Kidney; Vesico-Ureteral Reflux; Urinary Tract Infections; Spinal Dysraphism; Retrospective Studies
PubMed: 37726188
DOI: 10.1016/j.jpurol.2023.08.033 -
Environmental Health Perspectives Aug 2023Neural tube defects (NTDs) affect pregnancies worldwide annually. Few nongenetic factors, other than folate deficiency, have been identified that may provide... (Review)
Review
BACKGROUND
Neural tube defects (NTDs) affect pregnancies worldwide annually. Few nongenetic factors, other than folate deficiency, have been identified that may provide intervenable solutions to reduce the burden of NTDs. Prenatal exposure to toxic metals [arsenic (As), cadmium (Cd), mercury (Hg), manganese (Mn) and lead (Pb)] may increase the risk of NTDs. Although a growing epidemiologic literature has examined associations, to our knowledge no systematic review has been conducted to date.
OBJECTIVE
Through adaptation of the Navigation Guide systematic review methodology, we aimed to answer the question "does exposure to As, Cd, Hg, Mn, or Pb during gestation increase the risk of NTDs?" and to assess challenges to evaluating this question given the current evidence.
METHODS
We selected available evidence on prenatal As, Cd, Hg, Mn, or Pb exposure and risk of specific NTDs (e.g., spina bifida, anencephaly) or all NTDs via a comprehensive search across MEDLINE, Embase, Web of Science, and TOXLINE databases and applied inclusion/exclusion criteria. We rated the quality and strength of the evidence for each metal. We applied a customized risk of bias protocol and evaluated the sufficiency of evidence of an effect of each metal on NTDs.
RESULTS
We identified 30 studies that met our criteria. Risk of bias for confounding and selection was high in most studies, but low for missing data. We determined that, although the evidence was limited, the literature supported an association between prenatal exposure to Hg or Mn and increased risk of NTDs. For the remaining metals, the evidence was inadequate to establish or rule out an effect.
CONCLUSION
The role of gestational As, Cd, or Pb exposure in the etiology of NTDs remains unclear and warrants further investigation in high-quality studies, with a particular focus on controlling confounding, mitigating selection bias, and improving exposure assessment. https://doi.org/10.1289/EHP11872.
Topics: Female; Pregnancy; Humans; Cadmium; Lead; Prenatal Exposure Delayed Effects; Neural Tube Defects; Mercury; Manganese; Arsenic
PubMed: 37647124
DOI: 10.1289/EHP11872