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Nature Reviews. Disease Primers Apr 2015Spina bifida is a birth defect in which the vertebral column is open, often with spinal cord involvement. The most clinically significant subtype is myelomeningocele... (Review)
Review
Spina bifida is a birth defect in which the vertebral column is open, often with spinal cord involvement. The most clinically significant subtype is myelomeningocele (open spina bifida), which is a condition characterized by failure of the lumbosacral spinal neural tube to close during embryonic development. The exposed neural tissue degenerates in utero, resulting in neurological deficit that varies with the level of the lesion. Occurring in approximately 1 per 1,000 births worldwide, myelomeningocele is one of the most common congenital malformations, but its cause is largely unknown. The genetic component is estimated at 60-70%, but few causative genes have been identified to date, despite much information from mouse models. Non-genetic maternal risk factors include reduced folate intake, anticonvulsant therapy, diabetes mellitus and obesity. Primary prevention by periconceptional supplementation with folic acid has been demonstrated in clinical trials, leading to food fortification programmes in many countries. Prenatal diagnosis is achieved by ultrasonography, enabling women to seek termination of pregnancy. Individuals who survive to birth have their lesions closed surgically, with subsequent management of associated defects, including the Chiari II brain malformation, hydrocephalus, and urological and orthopaedic sequelae. Fetal surgical repair of myelomeningocele has been associated with improved early neurological outcome compared with postnatal operation. Myelomeningocele affects quality of life during childhood, adolescence and adulthood, posing a challenge for individuals, families and society as a whole. For an illustrated summary of this Primer, visit: http://go.nature.com/fK9XNa.
Topics: Female; Folic Acid; Humans; Meningomyelocele; Pregnancy; Prenatal Care; Prenatal Diagnosis; Spinal Dysraphism
PubMed: 27189655
DOI: 10.1038/nrdp.2015.7 -
Neurology India 2021Hydrocephalus is the most important co-morbidity in myelomeningocele from a neurosurgical perspective. Historically, 75-80% of patients with myelomeningocele have... (Review)
Review
Hydrocephalus is the most important co-morbidity in myelomeningocele from a neurosurgical perspective. Historically, 75-80% of patients with myelomeningocele have required treatment with a shunt but recent advances including intra-uterine myelomeningocele closure and ETV-CPC are reducing this burden. The expression of hydrocephalus differs between patients and across the life span. Hydrocephalus impacts the clinical expression of other important co-morbidities including the Chiari II malformation and tethered spinal cord. Shunt failure is often the key stress to prompt symptomatic worsening of these other conditions. Shunt failure may occur with minimal ventricular change on CT or MRI in Spina Bifida patients. Waiting for radiographic changes in symptomatic SB patients with shunts may result in hydrocephalus related fatalities. It is hypothesized but not proven that shunt failure may contribute to respiratory insufficiency and be a risk factor for sudden death in adult patients with spina bifida. Excellence in hydrocephalus management in MMC is essential for proper care, good outcomes, and quality of life for patients and families.
Topics: Adult; Arnold-Chiari Malformation; Humans; Hydrocephalus; Meningomyelocele; Quality of Life; Spinal Dysraphism
PubMed: 35102990
DOI: 10.4103/0028-3886.332247 -
Journal of Pediatric Rehabilitation... 2020The Spina Bifida Association (SBA) is the organization that represents the needs of the population with spina bifida (SB). They are tasked with advocacy, education,... (Review)
Review
The Spina Bifida Association (SBA) is the organization that represents the needs of the population with spina bifida (SB). They are tasked with advocacy, education, optimizing care, and providing a social voice for those with spina bifida. In response to the tenet of optimizing care they were tasked with developing up to date clinical care guidelines which address health care needs for those impacted by spina bifida throughout their lifespan. This article will discuss the SB Mobility Healthcare Guidelines from the 2018 Spina Bifida Association's Fourth Edition of the Guidelines for the Care of People with Spina Bifida.
Topics: Adolescent; Adult; Child; Child, Preschool; Dependent Ambulation; Female; Humans; Infant; Infant, Newborn; Male; Mobility Limitation; Practice Guidelines as Topic; Spinal Dysraphism; Young Adult
PubMed: 33325411
DOI: 10.3233/PRM-200744 -
American Journal of Public Health Jan 2016Birth defects remain a significant source of worldwide morbidity and mortality. Strong scientific evidence shows that folic acid fortification of a region's food supply... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Birth defects remain a significant source of worldwide morbidity and mortality. Strong scientific evidence shows that folic acid fortification of a region's food supply leads to a decrease in spina bifida (a birth defect of the spine). Still, many countries around the world have yet to approve mandatory fortification through government legislation.
OBJECTIVES
We sought to perform a systematic review and meta-analysis of period prevalence of spina bifida by folic acid fortification status, geographic region, and study population.
SEARCH METHODS
An expert research librarian used terms related to neural tube defects and epidemiology from primary research from 1985 to 2010 to search in EMBASE and MEDLINE. We searched the reference lists of included articles and key review articles identified by experts.
SELECTION CRITERIA
Inclusion criteria included studies in English or French reporting on prevalence published between January 1985 and December 2010 that (1) were primary research, (2) were population-based, and (3) reported a point or period prevalence estimate of spina bifida (i.e., prevalence estimate with confidence intervals or case numerator and population denominator). Two independent reviewers screened titles and abstracts for eligible articles, then 2 authors screened full texts in duplicate for final inclusion. Disagreements were resolved through consensus or a third party.
DATA COLLECTION AND ANALYSIS
We followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses, or PRISMA, abstracting data related to case ascertainment, study population, folic acid fortification status, geographic region, and prevalence estimate independently and in duplicate. We extracted overall data and any subgroups reported by age, gender, time period, or type of spina bifida. We classified each period prevalence estimate as "mandatory" or "voluntary" folic acid fortification according to each country's folic acid fortification status at the time data were collected (as determined by a well-recognized fortification monitoring body, Food Fortification Initiative). We determined study quality on the basis of sample representativeness, standardization of data collection and birth defect assessment, and statistical analyses. We analyzed study-level period prevalence estimates by using a random effects model (α level of < 0.05) for all meta-analyses. We stratified pooled period prevalence estimates by birth population, fortification status, and continent.
RESULTS
Of 4078 studies identified, we included 179 studies in the systematic review and 123 in a meta-analysis. In studies of live births (LBs) alone, period prevalences of spina bifida were (1) lower in geographical regions with mandatory (33.86 per 100,000 LBs) versus voluntary (48.35 per 100,000 LBs) folic acid fortification, and (2) lower in studies of LBs, stillbirths, and terminations of pregnancy in regions with mandatory (35.22 per 100,000 LBs) versus voluntary (52.29 per 100,000 LBs) fortification. In LBs, stillbirths, and terminations of pregnancy studies, the lowest pooled prevalence estimate was in North America (38.70 per 100,000). Case ascertainment, surveillance methods, and reporting varied across these population-based studies.
CONCLUSIONS
Mandatory legislation enforcing folic acid fortification of the food supply lags behind the evidence, particularly in Asian and European countries. This extensive literature review shows that spina bifida is significantly more common in world regions without government legislation regulating full-coverage folic acid fortification of the food supply (i.e., Asia, Europe) and that mandatory folic acid fortification resulted in a lower prevalence of spina bifida regardless of the type of birth cohort. African data were scarce, but needed, as many African nations are beginning to adopt folic acid legislation.
Topics: Female; Folic Acid; Food, Fortified; Global Health; Humans; Pregnancy; Prevalence; Spinal Dysraphism; Vitamin B Complex
PubMed: 26562127
DOI: 10.2105/AJPH.2015.302902 -
Journal of Rehabilitation Medicine Oct 2014To evaluate sexual function amongst adult individuals with spina bifida and to register their subjective satisfaction with their sexual life and relationships.
OBJECTIVE
To evaluate sexual function amongst adult individuals with spina bifida and to register their subjective satisfaction with their sexual life and relationships.
SETTING
Department for Spinal Cord Injuries, East Denmark.
STUDY DESIGN AND METHODS
Cohort study. Medical record information, neurological examination, personal interview, Functional Independence Measure (FIMTM), Medical Outcome Study Short Form 36 (SF-36) on quality of life, and questions on sexual function and related topics. Study cohort: Fifty-three participants (27 women, 26 men) with spina bifida (mean age 27.1, range 18-35) years. Response rate 74%.
RESULTS
Fifty-one percent of subjects regarded their sexual life as a failure or dysfunctional. However, 45% reported being satisfied with their sexual life. Participants with partners were more satisfied with their sexual life than those without partners. Faecal, but not urinary, incontinence was associated with poorer sexual function and less satisfaction. Forty-nine percent of subjects indicated that the sexual education they received at puberty was useful; however, 32% lacked knowledge about their sexual functioning with regard to their disability.
CONCLUSION
There is a need for further sexual education and counselling for adults with spina bifida in order to improve their sexuality and quality of life.
Topics: Adult; Cohort Studies; Counseling; Denmark; Disability Evaluation; Female; Humans; Male; Quality of Life; Sex Education; Sexual Behavior; Sexuality; Spinal Dysraphism; Surveys and Questionnaires; Young Adult
PubMed: 25148270
DOI: 10.2340/16501977-1863 -
Journal of Medicine and Life 2021Spina bifida is a disorder characterized by failure of the neural tube to form during embryological development. The early signs in the head and spine may be detected on...
Spina bifida is a disorder characterized by failure of the neural tube to form during embryological development. The early signs in the head and spine may be detected on ultrasound from 11 weeks of gestation. Diabetes is a well-known teratogen factor that increases the chances of birth defects, such as neural tube defects. We report a 12 weeks case of spina bifida in type 1 diabetes.
Topics: Diabetes Mellitus; Female; Humans; Neural Tube Defects; Pregnancy; Spinal Dysraphism; Ultrasonography
PubMed: 35126760
DOI: 10.25122/jml-2021-0249 -
Developmental Medicine and Child... Mar 2021To systematically characterize radiological features of patients with spina bifida, their relationship to cognitive function, and differences between spina bifida aperta...
AIM
To systematically characterize radiological features of patients with spina bifida, their relationship to cognitive function, and differences between spina bifida aperta (SBA) and spina bifida occulta (SBO).
METHOD
In a retrospective study of 265 patients (117 females, 148 males; median age at imaging 11y, range 1-47y; SBA n=206, SBO n=59), the radiological phenotype was assessed through magnetic resonance imaging (MRI) (SBA n=171, SBO n=59). In 126 patients (SBA n=116, SBO n=10) Kaufman Assessment Battery for Children (KABC) or Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV) and Wechsler Adult Intelligence Scale, Fourth Edition (WAIS-IV) were performed.
RESULTS
Patients with spina bifida show numerous brain malformations, always present for SBA but rarely for SBO. The most frequent brain malformations in SBA included abnormal corpus callosum (69%), hypoplastic pons (50%), and hypoplastic mesencephalon (20%). Cognitive total IQ scores were below average in 44% (KABC) to 49% (WISC-IV) of children with SBA, while almost all children with SBO scored at least average. Stenogyria (p=0.006), pons (p=0.003), and mesencephalon hypoplasia (p=0.01) correlated with lower total IQ score and verbal comprehension. Various brain malformations correlate significantly with several cognitive domains, while lesion level only correlates with processing speed.
INTERPRETATION
IQ scores were significantly lower in patients with SBA than in patients with SBO. Verbal competence, perceptual reasoning, and working memory were significantly impaired for SBA and correlated with stenogyria and abnormalities of the midbrain and corpus callosum.
WHAT THIS PAPER ADDS
Brain malformations occur more frequently in spina bifida aperta (SBA) than in spina bifida occulta (SBO). Cognitive impairment is less frequent in SBO. Hydrocephalus, stenogyria, midbrain, and corpus callosum abnormalities are associated with lower cognitive function. Difference in prognosis in SBO versus SBA can alter prenatal counselling.
Topics: Adolescent; Adult; Brain; Child; Child, Preschool; Cognition; Female; Humans; Infant; Magnetic Resonance Imaging; Male; Middle Aged; Neuropsychological Tests; Retrospective Studies; Spinal Dysraphism; Wechsler Scales; Young Adult
PubMed: 33140418
DOI: 10.1111/dmcn.14717 -
Developmental Medicine and Child... Oct 2021To measure resilience and identify associated demographic and clinical factors in individuals with spina bifida.
AIM
To measure resilience and identify associated demographic and clinical factors in individuals with spina bifida.
METHOD
An anonymous survey was distributed via Facebook advertising to individuals with congenital urological conditions. Respondents 18 years or older with spina bifida were included in this study. Resilience was measured with the 10-item Connor-Davidson Resilience Scale. Mean resilience levels in the study population and a US general population sample were compared with Student's t-test. Multiple linear regression assessed demographic and clinical factors associated with resilience.
RESULTS
The mean resilience score for participants (n=195; 49 males, 146 females; mean age 40y 2mo [SD 12y 7mo] range 18-74y) was 27.2 (SD 7.5), which differed from a mean of 31.8 (SD 5.4) for a US general population sample (p<0.01). Multiple linear regression demonstrated significant positive associations between resilience and older age (p=0.04), prior urological surgeries (p=0.03), higher household education (p<0.01), and higher physical function (p<0.01).
INTERPRETATION
Resilience in individuals with spina bifida is moderately poor, relative to the general population, and is associated with certain demographic and clinical factors. As a modifiable construct with positive effects on quality of life, psychological well-being, and health-related behaviors, resilience is a promising target for intervention in individuals with spina bifida. What this paper adds Resilience in individuals with spina bifida is moderately poor. Resilience is lower in individuals with spina bifida than the general population. Resilience is associated with age, household education, physical function, and urological surgery.
Topics: Adolescent; Adult; Age Factors; Aged; Educational Status; Family Characteristics; Female; Humans; Male; Middle Aged; Physical Functional Performance; Resilience, Psychological; Spinal Dysraphism; Surveys and Questionnaires; Urologic Surgical Procedures; Young Adult
PubMed: 33987844
DOI: 10.1111/dmcn.14919 -
Ultrasound in Obstetrics & Gynecology :... Mar 2019Linked Comment: Ultrasound Obstet Gynecol 2018; 53: 293-301 Linked Comment: Ultrasound Obstet Gynecol 2018; 53: 302-308 Linked Comment: Ultrasound Obstet Gynecol 2018;...
Linked Comment: Ultrasound Obstet Gynecol 2018; 53: 293-301 Linked Comment: Ultrasound Obstet Gynecol 2018; 53: 302-308 Linked Comment: Ultrasound Obstet Gynecol 2018; 53: 309-313.
Topics: Female; Fetal Therapies; Humans; Neural Tube Defects; Outcome Assessment, Health Care; Pregnancy; Prenatal Diagnosis; Spinal Dysraphism
PubMed: 30835370
DOI: 10.1002/uog.20226 -
Journal of Pediatric Rehabilitation... 2020Self-management and independence behaviors are associated with improved health conditions common to spina bifida such as skin integrity and bowel and bladder management.... (Review)
Review
Self-management and independence behaviors are associated with improved health conditions common to spina bifida such as skin integrity and bowel and bladder management. While most children with spina bifida ultimately achieve basic self-care behaviors, (e.g., dressing appropriately, planning activities with peers, or cooking pre-planned meals), they often lag 2-5 years behind their typically-developing peers in these activities [1]. Valid and reliable condition-specific assessments of self-management and independence are critical to optimizing outcomes for this population. Partnerships among parents, clinicians, and youths with spina bifida are essential to implementing tailored interventions based on these assessments. The guidelines delineated in this article are informed by current self-management research for people with spina bifida and offer recommendations to promote self-management and independence across the lifespan.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Functional Status; Humans; Infant; Male; Practice Guidelines as Topic; Self-Management; Spinal Dysraphism; Young Adult
PubMed: 33252094
DOI: 10.3233/PRM-200734