Search

Youth with spina bifida (SB) are at increased risk for inattention and executive dysfunction challenges. This study aimed to characterize the development of inattention and executive dysfunction in SB and examine the relationship between condition severity (i.e. lesion level, shunt status, and shunt revisions) and inattention and executive dysfunction at age 11.5 and longitudinally. Participants included 140 youth with SB. Condition severity was collected via parent reports and chart review. Parents and teachers reported on youth’s inattention and executive dysfunction using informant-based measures across five time points. Parents and teachers both reported linear decreases in inhibition and working memory problems. Development of inattention and shifting problems varied by reporter. At 11.5 years, shunt status predicted worse parent- and teacher-reported inattention and executive dysfunction, while shunt revisions predicted worse parent-reported working memory alone. Higher lesion level predicted fewer parent-reported inhibition problems at 11.5 years. Over time, more shunt revisions and higher lesion level predicted worse parent-reported inattention and inhibition, respectively. Findings suggest that inattention and executive dysfunction may significantly change over time in youth with SB, related to condition severity and reporter. Early deficit identification and intervention implementation, particularly for youth with greater SB severity, may result in better longitudinal outcomes. [ABSTRACT FROM AUTHOR]

To perform a cross-cultural adaptation of the OMNI verbal descriptors to Brazilian-Portuguese and examine the validity of the Brazilian version for arm-crank activity. Cross-cultural adaptation stages were: permission, translation, synthesis, back translation, expert committee review, pretesting, and submission and appraisal. For the concurrent validity, a Brazilian OMNI-Wheel scale was used to obtain rating of perceived exertion for the overall body (RPEOverall) and arms (RPEArms) in participants (n = 9, 10–17 years) with spina bifida. Cardiopulmonary exercise test was used to measure heart rate (HR) and oxygen uptake (VO2). Repeated Measures Correlation (rrm) was used to examine the scale validity. The cross-cultural adaptation produced equivalence between English and Brazilian-Portuguese verbal descriptors based on successful translation and pretesting. The Brazilian OMNI-wheel was validated based on strong associations of RPEOverall with VO2 (rrm (35) = 0.86, 95% CI [0.93, 0.73], p < 0.001) and HR (rrm (35) = 0.89, 95% CI [0.94, 0.79], p < 0.001) and RPEArms with VO2 (rrm (33) = 0.82, 95% CI [0.91, 0.66], p < 0.001) and HR (rrm (33) = 0.82, 95% CI [0.91, 0.66], p < 0.001). The OMNI scale was cross-culturally adapted to Brazilian-Portuguese. The Brazilian OMNI-Wheel was validated based on strong associations of RPE with HR and VO2. The original English OMNI was cross-culturally adapted to Brazilian-Portuguese. A Brazilian wheelchair OMNI was concurrently validated for Arm-Crank Activity in adolescents with spina bifida. This OMNI scale version may aid health providers in monitoring perceived exertion in Brazil. [ABSTRACT FROM AUTHOR]

1) To explore how children with spina bifida (SB) and their parents understand bodyweight, health and weight management; and 2) To identify what services and supports children with SB and their families feel are most appropriate to help them manage their health and weight. The study used interpretive description within a qualitative design. Participants were children with SB (aged 10-18) attending two Canadian SB clinics and their parents. Data were collected through individual interviews and analyzed using inductive thematic analysis. Five children and five parents participated in the study. Children and parents had a weight-centric approach to health, which was related to the child's mobility. Weight was considered to be under individual control and mostly through diet. Trusting relationships between healthcare providers, children and families were important to discuss weight in a non-judgemental manner. Children should be involved in setting meaningful and achievable weight management goals. Greater knowledge of how children with SB and their families understand weight and health offers opportunities for non-judgemental discussions about their needs and wishes. Helping families to place more value on health over weight may reduce feelings of stigma, while allowing children to develop some autonomy over health-related decisions. Children with spina bifida and their parents do not recognise the complexity of factors contributing to weight regulation. Weight regulation was often seen as the child's responsibility, which could lead to feelings of guilt and shame through internalised weight stigma Healthcare professionals working with children with spina bifida should explore their perceptions, beliefs, and behaviours related to weight, health and mobility to ensure they are not causing themselves physical and/or psychological harm [ABSTRACT FROM AUTHOR]

Abstract\nIMPLICATIONS FOR REHABILITATIONPurpose of the Article: To (1) summarise the personal and clinical characteristics of persons with disabilities (PwDs) in the US who were evaluated for mobility assistive equipment (MAE) in the functional mobility assessment and uniform dataset (FMA/UDS) and (2) stratify subpopulations of PwD who reported falling versus those who do not report a fall.Materials and Methods: This study was a retrospective, descriptive cohort analysis of adults with disabilities using the FMA/UDS. Data are collected during a user’s initial evaluation for a new mobility device. The sample is intentionally general to be inclusive of all mobility device users. The primary variable of interest was a patient-reported fall within the 3 months leading up to their evaluation for a new mobility device. Subpopulation characteristics were stratified by this binary fall variable.Results and Conclusions: This study provides descriptions of PwDs being evaluated for a new mobility device. There were 11,084 PwDs with 31 different primary diagnoses. During their new mobility device evaluation, 52.2% of PwDs reported at least one fall in the last 3 months. For those who reported a fall, 46.6% of PwDs were using a walking aid or no device at all before the new mobility device evaluation. Additionally, persons with progressively acquired disabilities (i.e., Parkinson’s disease, osteoarthritis and cardiopulmonary disease) reported higher rates of falls than those with congenital disabilities (i.e., cerebral palsy and spina bifida). These findings will influence future studies comparing different types of devices and their influence on falls and user satisfaction.52.2% of persons with disabilities (PwDs) seeking a new wheelchair evaluation reported at least one fall in the last 3 months.Persons with progressively acquired disabilities (i.e., Parkinson’s disease, osteoarthritis and cardiopulmonary disease) reported higher rates of falls than those with congenital disabilities (i.e., cerebral palsy and spina bifida).Earlier interventions for fall prevention including professional wheelchair evaluations may be warranted, but further research is necessary to explore long-term effectiveness.52.2% of persons with disabilities (PwDs) seeking a new wheelchair evaluation reported at least one fall in the last 3 months.Persons with progressively acquired disabilities (i.e., Parkinson’s disease, osteoarthritis and cardiopulmonary disease) reported higher rates of falls than those with congenital disabilities (i.e., cerebral palsy and spina bifida).Earlier interventions for fall prevention including professional wheelchair evaluations may be warranted, but further research is necessary to explore long-term effectiveness. [ABSTRACT FROM AUTHOR]

The Quality of Life Assessment in Spina bifida for Teenagers (QUALAS-T) is a tool used to evaluate health-related quality of life (HRQOL) in adolescents with spina bifida (SB). The purpose of this study was to translate the QUALAS-T into Korean and validate its Korean version (QUALAS-T-K). Translation and validation processes were carried out in accordance with a specified protocol, including forward and back translation, a content validity study, and a main study. The tool's reliability was evaluated based on its internal consistency and stability. Factor analysis was conducted, and convergent validity was confirmed using the KIDSCREEN-27. Of the 59 participants, 35 had lipomyelomeningoceles. Confirmatory factor analysis confirmed that QUALAS-T-K had the same structure as QUALAS-T. The QUALAS-T-K showed excellent internal consistency (α: 0.872–0.893, ω: 0.875–0.885), test–retest reliability (ICC:0.84–0.92), and weak to strong correlations with the KIDSCREEN-27. The QUALAS-T-K, developed by reflecting on the characteristics of SB and considering the applicability of Korean cultural characteristics and clinical practice, is a convenient and reliable tool with excellent internal consistency and stability. This could be a useful tool in clinical and research settings for HRQOL evaluation of adolescents with SB. Optimizing health-related quality of life (HRQOL) is one of the goals of individuals with spina bifida (SB), and HRQOL measures that reflect the condition specificity of SB should be performed. The QUAlity of Life Assessment in Spina bifida for Teenagers (QUALAS-T), developed in the USA, is a self-reported HRQOL questionnaire used in research and clinical practice for adolescents with SB. This study revealed that the QUALAS-T, translated into Korean, is a valid, convenient, and reliable tool. The Korean version of the QUALAS-T is a useful tool that can be used in clinical and research settings to optimize HRQOL in adolescents with SB. [ABSTRACT FROM AUTHOR]

AbstractObjective: The pediatric patient populations in the United States are becoming increasingly diverse in culture. In addition to medical factors, a variety of sociocultural factors (including educational systems, language, immigration status, etc.) can impact a child’s cognitive development, performance on traditional neuropsychological measures, provider interactions, differential diagnosis, and recommendations. A culturally-informed neuropsychological evaluation aims to understand the impact of sociocultural factors and integrate them into the assessment approach. Fujii’s ECLECTIC framework (acronym for Education & Literacy, Culture/Acculturation, Language, Economic Issues, Communication Style, Testing Situation, Intelligence Conceptualization, and Context of Immigration) can be used to guide culturally-informed neuropsychological evaluations of children with complex medical conditions. Method: Using the ECLECTIC framework, this paper describes clinical considerations and offers practical solutions for providing culturally-informed pediatric neuropsychology evaluations. Four diverse patients with spina bifida are reviewed. Results: The case presentations highlight the application of the ECLECTIC framework within a medically complex pediatric patient population. Conclusions: Spina bifida is one example of a pediatric medical population in which both medical and sociocultural factors can impact cognitive development and the evaluation process. The ECLECTIC framework defines a variety of sociocultural factors that can influence cognitive development and multiple aspects of a pediatric neuropsychological evaluation. Pediatric neuropsychologists should use the ECLECTIC framework to provide culturally-informed evaluations for our increasingly diverse patient populations. [ABSTRACT FROM AUTHOR]

This study aims to investigate whether the treatment effects, in terms of goal attainment, transfer effects and impact on executive functions, of an intervention in children with cerebral palsy or spina bifida using the Cognitive Orientation to daily Occupational Performance (CO-OP) Approach are maintained over time, from immediately after the intervention to three months afterwards. A three-month follow-up study, from an intervention using CO-OP. Thirty-four children (7–16 years) each identified four goals (one untrained to examine transfer) and participated in an eleven-session intervention. Assessments were performed at baseline, immediately after the intervention and at a three-month follow-up using the Canadian Occupational Performance Measure and the Performance Quality Rating Scale. Executive function and self-rated competence were assessed at the same timepoints. Statistically significant and clinically relevant improvements in goal achievement were demonstrated for both trained and untrained goals after the intervention and were maintained at follow-up. The clinically relevant improvement in untrained goals continued to increase until follow-up. Self-rated competence increased after the intervention and was maintained at follow-up. The CO-OP intervention was effective in achieving and maintaining the children's own goals over time. The transfer effect was confirmed by higher goal attainment for the untrained goals. The children's self-defined goals were achieved after the Cognitive Orientation to daily Occupational Performance (CO-OP) intervention and remained so at the three-month follow-up. The CO-OP Approach is useful for children with cerebral palsy or spina bifida. A transfer effect was demonstrated for untrained goals by both subjective and objective assessments. Using children's self-defined goals is effective. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Propulsive wheelchair capacity may be influenced by arm muscle performance. Objectives: To determine whether children and adolescent wheelchair-users with spina bifida show reduced arm muscle strength compared to their typically developing peers and to compare muscle strength data obtained by isokinetic and handheld dynamometry (HHD). Participants (mean age 12.5 ± 2.5 years) were assigned to spina bifida (SB; n = 11) or control (n = 22) groups. Isokinetic dynamometry was used to measure peak torque (PT) during dynamic (60°s−1 and 120°s−1) and isometric strength testing (MVIC) for shoulder and elbow flexors and extensors. HHD was used to measure MVIC of the same muscle groups. SB showed reduced isokinetic PT for shoulder extensors at 60°s−1 and 120°s−1, shoulder flexor MVIC, and elbow flexors at 60°s−1 and MVIC; higher PT for shoulder flexors and elbow flexors at 120°s−1; and decreased MVIC for elbow flexors but not extensors compared to controls when assessed by HHD. The SB and control groups showed strong positive correlations between MVIC data obtained by the two devices for all muscle groups (r ≥ 0.81; p <.01), except for shoulder flexor MVIC in controls (r = 0.68; p <.01). SB presented reduced levels of dynamic slow-speed and isometric shoulder and elbow muscle strength and greater dynamic high-speed shoulder and elbow flexor strength than controls possibly due to the exposure to self-sustained wheelchair ambulation. Exercise-based intervention protocols to increase slow-speed arm muscle strength should be considered in youth with SB. Strong positive correlations observed between muscle strength assessed by isokinetic dynamometry and HHD support the use of HHD in this clinical population. [ABSTRACT FROM AUTHOR]

Background: Myelomeningocele or spina bifida is an open neural tube defect that is characterized by protrusion of the meninges and the spinal cord through a deformity in the vertebral arch and spinous process. Myelomeningocele of post-natal tissue is well described; however, pre-natal tissue of this defect has no known previous histologic characterization. We compared the histology of different forms of pre-natal myelomeningocele and post-natal myelomeningocele tissue obtained via prenatal intrauterine and postnatal surgical repairs. Methods: Pre-and post-natal tissues from spina bifida repair surgeries were obtained from lipomyelomeningocele, myeloschisis, and myelomeningocele spina bifida defects. Tissue samples were processed for H&E and immunohistochemical staining (KRT14 and p63) to assess epidermal and dermal development. Results: Prenatal skin near the defect site develops with normal epidermal, dermal, and adnexal structures. Within the grossly cystic specimens, histology shows highly dense fibrous connective tissue with complete absence of a normal epidermal development with a lack of p63 and KRT14 expression. Conclusion: Tissues harvested from prenatal and postnatal spina bifida repair surgeries appear as normal skin near the defect site. However, cystic tissues consist of highly dense fibrous connective tissue with complete absence of normal epidermal development. [ABSTRACT FROM AUTHOR]

This study aimed to translate and cross-culturally adapt the QUAlity of Life Assessment in Spina bifida for Children (QUALAS-C) and validate the Korean version of the QUALAS-C (QUALAS-C-K). Three urologists translated the QUALAS-C into Korean. Facial and content validity were assessed in the pilot study. Back-translation into English was performed. In the main study, the QUALAS-C-K and Korean version of KIDSCREEN-27 were administered simultaneously. Test-retest reliability was confirmed by re-administering the QUALAS-C-K. Internal consistency was verified using Cronbach's alpha. Factor analysis was performed, and convergent and divergent validity were demonstrated using the Korean version of KIDSCREEN-27. A total of 53 children with spina bifida participated in the main study. Cronbach's alpha for the overall instrument determined good internal consistency (0.72–0.85), the intraclass correlation coefficient showed good stability (0.74–0.77), and the factor analysis converged to the same two-factor structure as in the original version. Construct validity revealed weak-to-moderate associations (r ≤ 0.57) between QUALAS-C-K and K-KIDSCREEN-27, indicating that QUALAS-C-K measures different aspects of the HRQOL than K-KIDSCEEN-27. The QUALAS-C-K is a reliable and valid instrument for assessing the health-related quality of life of children with SB in Korea. Health-related quality of life (HRQOL) is an important patient-reported outcome among children with spina bifida (SB). The QUAlity of Life Assessment of Spina bifida for Children (QUALAS-C) is a self-reported, age-appropriate, and condition-specific HRQOL questionnaire for children with SB, developed in the United States. Our study demonstrated that the Korean version of the QUAlity of Life Assessment of Spina bifida for Children (QUALAS-C-K) is a valid and reliable tool. The QUALAS-C-K is a succinct and valuable questionnaire that can be used to assess HRQOL of children with SB, particularly focusing on bladder and bowel problems in clinical practice and research. [ABSTRACT FROM AUTHOR]

War conflict is especially difficult for people with disabilities and their families. The aim of our study was to determine the impact of the full-scale Russian invasion of Ukraine on the lives of people with spina bifida. We initiated an online survey for people with spina bifida and 53 respondents gave answers. The survey showed that Russian aggression has a significant negative impact on the health of people with spina bifida: their access to basic services (in more than 50% of respondents), and to treatment (in more than 35%) and rehabilitation (in 62.3%). The most vulnerable were people with limited motor activity. Mental health of people was also greatly affected (in 67.9%). Counseling, information and psychological sustentation are important components of support for people with spina bifida and their families during wartime. [ABSTRACT FROM AUTHOR]

Split cord malformations are disorders of gastrulation. Disorders of secondary neurulation occur later and are traditionally considered separate from the former. Complex split cord malformations involving both the cord and the conus and encompassing the epochs of gastrulation, primary neurulation, junctional neurulation, and secondary neurulation have not been described in literature. We present a four-year-old boy with such a malformation and postulate the embryological mechanism involved. The clinical vignette of this unique case has been described. We report a good clinical outcome in this patient with surgical management. [ABSTRACT FROM AUTHOR]

The primary aim of this study was to characterize Cognitive Disengagement Syndrome (CDS) symptomatology in youth with spina bifida (SB). One hundred and sixty-nine patients aged 5–19 years old were drawn from clinical cases seen through a multidisciplinary outpatient SB clinic at a children's hospital between 2017 and 2019. Parent-reported CDS and inattention were measured using Penny's Sluggish Cognitive Tempo Scale and the Vanderbilt ADHD Rating Scale. Self-reported internalizing symptoms were measured with the 25-item Revised Children's Anxiety and Depression Scale (RCADS-25). We replicated Penny's proposed 3-factor structure of CDS with slow, sleepy, and daydreamer components. The slow component of CDS overlapped heavily with inattention, while the sleepy and daydreamer components were distinct from inattention and internalizing symptoms. Eighteen percent (22 of 122) of the full sample met criteria for elevated CDS, and 39% (9 of 22) of those patients did not meet criteria for elevated inattention. Diagnosis of myelomeningocele and presence of a shunt were associated with greater CDS symptoms. CDS can be measured reliably in youth with SB and can be discriminated from inattention and internalizing symptoms in this population. ADHD rating scale measures fail to identify a substantial portion of the SB population with attention-related challenges. Standard screening for CDS symptoms in SB clinics may be important to help identify clinically impairing symptoms and design targeted treatment plans. [ABSTRACT FROM AUTHOR]

Standing power wheelchairs (PWSDs) expand positioning and mobility options for individuals with motor impairments. Although more available, little is known about how PWSDs are used in everyday life. to describe children's use of PWSDs in the first three months post-wheelchair delivery and the impacts on satisfaction with participation in daily life. An interrupted time series of purposefully sampled children aged 5–18 years who were receiving a PWSD. The Wheelchair Outcome Measure for Young People (WhOM-YP) documented satisfaction with patient-reported meaningful participation outcomes. Data loggers objectively measured wheelchair mobility outcomes including distance travelled, bouts of mobility, and duration. Data were measured over two sessions pre-wheelchair-delivery and at one week, one month and three months post-wheelchair-delivery. Six children aged 7–18 years participated, four diagnosed with cerebral palsy, two with spina bifida. Analyses of individual data illustrated positive change in overall WhOM-YP satisfaction scores after PWSD provision though change varied across time, as did, distance, bouts of mobility and duration of use. Participants identified 14 in-home and 16 out-of-home unique participation outcomes, although several commonalities existed. PWSDs hold promise for increasing children's satisfaction with participation in daily life, in addition to possibly increasing mobility outcomes. For children with mobility limitations, PWSDs may promote participation in daily life and increased mobility. Data logger technology provides valuable information about children's PWSD use and how this varies over time. Benefits and challenges exist with implementing PWSD and data logger technologies. When implementing PWSD use, it is critical to consider context, training and support needs of clients and caregivers. [ABSTRACT FROM AUTHOR]

This study explored the acceptability of Children and Teens in Charge of their Health (CATCH), a program for children with spina bifida or cerebral palsy to enhance their physical activity and diet. Qualitative interviews were conducted with children (n = 6) and their parents (n = 6) who participated in CATCH. Analysis used an environmental systems framework. Microsystem factors impacting acceptability of the program were: Children's motivations for change, their age, and their physical health. Mesosystem factors were: Use of virtual coaching and the relationship between coach and child. Macrosystem factors (e.g. Covid-19), did not impact acceptability, but affected some goal attainment strategies. CATCH was broadly acceptable to children and parents and shows promise as a health promotion program tailored to children with disabilities. An environmental systems framework can potentially help other health promotion programs enhance their acceptability and success. [ABSTRACT FROM AUTHOR]

Introduction: Intradural spinal lipomas are very rare and constitute less than 1% of all spinal tumors. Such tumors are usually associated with spinal dysraphism and occur mostly in the lumbosacral or cervical region. Intradural spinal lipomas tends to be intramedullary or subpial. Meningeal melanocytoma is further rarer cases that comprise less than 0.1% of cases. These usually occur in the fifth or fifth decade and chances of malignant transformation are high. Case report: Here, we report an extremely rare case (first to the best of our knowledge) of a 9 years female child who presented to us with rapid progressing paraparesis. She was operated and found to have an intradural purely extramedullary spinal lipoma without spinal dysraphism. Moreover, she had melanin pigment deposits all over her meninges which is further rare. On presentation, the patient was bedridden but after surgery, the patient improved and could walk without support. Conclusions: To the best of our knowledge, this is the first case of spinal cord lipoma in dorsal location along with melanin pigments in the meninges. We discuss the pathogenesis, presentation and management of intradural extramedullary spinal lipomas. [ABSTRACT FROM AUTHOR]

The QUAlity of Life Assessment in Spina bifida (QUALAS) for adults (QUALAS-A) evaluates the health-related quality of life (HRQOL), reflecting the condition specificity of adults with spina bifida (SB). The study's purpose was to translate and cross-culturally adapt the QUALAS-A into Korean and validate a Korean-modified version of the QUALAS for Young Adults (QUALAS-YA-Km). Face and content validity were evaluated in the pilot study. Internal consistency and test-retest reliability were confirmed in the main study. Factor analysis was performed, and convergent and divergent validity was verified using the World Health Organization Quality of Life assessment instrument abbreviated version (WHOQOL-BREF). Forty-seven adults had myelomeningocele. Five items with low communality were deleted through the factor analysis, and the domains were renamed. The QUALAS-YA-Km showed good internal consistency (Cronbach's alpha 0.73–0.83) and excellent test-retest reliability (intraclass correlation coefficient 0.84–0.89). The QUALAS-YA-Km showed good convergent and divergent validity, with weak to strong correlations with the WHOQOL-BREF. Developed with consideration of Korea's cultural characteristics, the QUALAS-YA-Km is a convenient and reliable instrument, with good internal consistency, stability, and construct validity. This can be a useful tool in clinical and research settings for HRQOL optimization in young adults with SB. Optimizing health-related quality of life (HRQOL) is one of the goals of people with spina bifida (SB), which requires HRQOL measurements that reflect the condition specificity of SB The QUAlity of Life Assessment of Spina bifida for Adults (QUALAS-A) is a self-reported HRQOL questionnaire for adults with SB developed in the United States, which is used in research and clinical practice The present study revealed that the Korean modified version of the QUAlity of Life Assessment of Spina bifida for Young Adults (QUALAS-YA-Km), developed in consideration of the cultural characteristics of Korea, is a valid, convenient, and reliable tool The QUALAS-YA-Km, is a useful tool that can be used in clinical and research settings for HRQOL optimization in adults with SB [ABSTRACT FROM AUTHOR]

Background: Myelomeningocele (MMC) causes significant morbidity and mortality. Efforts have been directed to correct this defect in utero. The neuropathology literature on antenatally repaired MMC and associated complications in humans is limited. Case report: A 12-day-old female, who underwent prenatal MMC repair via a two-layer closure (dural replacement patch, primary skin closure), was born at 34 weeks' gestation. Her group B streptococcus positive mother received appropriate antepartum prophylactic antibiotics. She remained stable until day 11 of life when she underwent rapid clinical deterioration. Despite aggressive intervention, she expired on day 12. Review of placental pathology showed maternal and fetal inflammatory response. Autopsy revealed Gram-positive cocci and inflammation within the basilar leptomeninges and lumbosacral region. Neural and dermal elements were present within the MMC repair. Conclusion: This case documents integration of the dermal matrix patch to neural elements, adhering the spinal cord to scar tissue, the clinical implications of which remain unclear. [ABSTRACT FROM AUTHOR]

The purpose of this exploratory case series was to describe the outcomes for both a child-learner and a child-peer after a single manual wheelchair (MWC) skills training session involving child-based peer training techniques, followed by related home-based skills practice. Participants were a 9-year-old with L4–L5 spina bifida (pseudonym: Amari) and a 3-year-old with T10 spina bifida (pseudonym: Mary). Pre-intervention examination included administration of the Wheelchair Skills Test Questionnaire (WST-Q), the MWC short scale within the Mobility domain of the Paediatric Evaluation of Disability – Computer Adapted Test (MWC PEDI-CAT), and the Canadian Occupational Performance Measure (COPM). The peer training session, facilitated by a physical therapy team, involved games and activities involving MWC use. When appropriate, Amari was asked to talk aloud and verbally describe the components of the skills she was performing. Each child and her mother were instructed in specific MWC skills to practice at home over a 3-week period. Both participants' post-intervention WST-Q capacity, confidence, and performance scores increased. Increases in parent-proxy COPM scores indicated clinically meaningful change in all identified occupational performance problems. Mary's total MWC PEDI-CAT post-intervention score increased by 11 points. Both mothers reported that the participation in the activities helped also to improve their child's self-esteem and self-image. Both the participants in this exploratory case appeared to demonstrate improvements in MWC skills, self-esteem, and self-image following a single child-based MWC skills peer training session and related home-based skills practice. Future research involving such peer training methods is warranted. [ABSTRACT FROM AUTHOR]

Children with cerebral palsy (CP) or spina bifida (SB) often have executive dysfunction affecting activity performance. With the Cognitive Orientation to daily Occupational Performance (CO-OP) Approach, children find their own way to perform activities, using problem-solving strategies and meta-cognitive thinking. The present study aimed to investigate the effectiveness of the CO-OP Approach in children with CP or SB, compared with conventional rehabilitation, in achieving self-identified activity goals, and to explore any generalization and transfer effects. Randomized controlled trial, CO-OP versus treatment as usual, 38 children (7–16 years) participated. Each child identified four goals (to study generalization and transfer, one remained untrained). Primary outcomes: Canadian Occupational Performance Measure (COPM) and Performance Quality Rating Scale (PQRS). Secondary outcomes assessed executive functions and self-rated everyday-life competence. Self-rated goal attainment (COPM) was significantly greater for both trained and untrained goals in the CO-OP group compared with the control group. The rating of observed performance (PQRS) was significantly higher for trained goals in the CO-OP group. The CO-OP group experienced fewer problems in everyday life after treatment. Executive functions did not differ significantly between groups. CO-OP is more effective than ordinary treatment in achieving both trained and untrained goals. CO-OP enables children with CP (MACS levels I–III) or SB without intellectual disabilities to reach self-identified goals. CO-OP shows transfer effects to new activities and situations, which may enhance children's self-efficacy. CO-OP is an important complement to conventional rehabilitation services for children with CP and SB. [ABSTRACT FROM AUTHOR]

Objective To study the prevalence of abnormalities of the septi pellucidi (SP) in a cohort of fetuses with open spinal dysraphism (OSD) and to determine whether this condition is secondary to obstructive ventriculomegaly and, therefore, part of the natural history of prenatal intracranial hypotension (PICH) syndrome. Methods Magnetic resonance imaging (MRI) studies from fetuses with OSD were analyzed. The SP were assessed using axial and coronal T2-weighted images of the fetal brain and classified as intact, partially absent, or completely absent. Additionally, the correlation between the presence or absence of the SP and the size of the lateral ventricles, degree of cerebellar tonsillar herniation, collapse of the fourth ventricle, and interpeduncular angle was investigated. Results A total of 32 fetuses with OSD were studied. Mean gestational age at the time of the fetal MRI was 25.5 ± 3.9 weeks (range, 19–35) and mean ventricular size was 16.2 ± 4.2 mm (range, 8–26). Twenty-three (71.9%) fetuses had cerebellar tonsillar herniation. The IPA was completely collapsed in 23 cases (71.9%), reduced in seven (21.9%), and unreadable in two (6.3%). Twenty (62.5%) fetuses presented with intact SP, 10 (31.3%) with partially absent SP (incomplete fenestration), and two (6.3%) with completely absent SP (complete fenestration). Fenestration of the SP correlated significantly with the degree of ventriculomegaly (Pearson’s correlation coefficient =0.459; p = .01). However, there was no correlation with the IPA, collapse of the fourth ventricle, and cerebellar tonsillar herniation. Conclusions More than one-third of the fetuses with OSD had fenestration of the SP. The most probable etiology is increased intraventricular pressure leading to local necrosis of the SP. As fenestration of the SP is a secondary event associated with PICH syndrome, this condition should not be considered a contraindication for intrauterine repair of the spinal defect. Instead, it should be seen as an indicator of the severity of the intraventricular pressure. [ABSTRACT FROM AUTHOR]

Background To describe the brain Doppler changes in fetuses with isolated open spina bifida (OSB). Study design Doppler ultrasound measurements including the umbilical artery (UA) pulsatility index (PI), middle cerebral artery (MCA) PI, and their combination into the cerebroplacental ratio (CPR) and umbilicocerebral ratio (UCR) were performed in a cohort of fetuses with OSB. Included patients were individually matched to a control group without structural anomalies and similar gestational ages. MCA-PI and/or CPR values below the 5th centile were considered abnormal and indicative of cerebral blood redistribution, while UCR and UA-PI above the 95th centile were considered abnormal. Results During the study period, 266 fetuses were recruited, 133 normally grown fetuses with OSB and 133 matched controls. Doppler recordings were successfully obtained in all fetuses at a median gestational age of 30.9 weeks. All cases showed UA-PI within normal ranges, but fetuses with OSB showed significantly higher frequency of cerebral blood redistribution (15.0 vs. 3.0%, p < .01), MCA-PI <5th centile (10.5% vs. 3.0%, p = .01), decreased CPR (9.8% vs. 2.3%, p = .01) and increased UCR (17.2 % vs 7.5 %, p =.02). The rate of cerebral blood redistribution was significantly higher in the OSB group with ventriculomegaly in comparison to those with OSB and normal lateral ventricle diameter (18.6% vs. 3.2%, respectively; p <.05). Conclusion A proportion of fetuses with isolated open spina bifida showed cerebral blood redistribution. [ABSTRACT FROM AUTHOR]

To study psychological distress and fatigue among persons with spina bifida (SB) 50 years or older and living in Norway. In 2017, cross-sectional data were collected (n = 30). The Hospital Anxiety and Depression Scale (HADS) and the Fatigue Severity Scale (FSS) were used. Descriptive statistics, non-parametric tests, and Spearman correlations were performed. Relevant information from previous studies on adults with chronic spinal cord injury (SCI) and the general population, were collected for comparison. Participants were 18 women and 12 men, mean age 57.5 (SD 5.6), 26 with myelomeningocele, and six with hydrocephalus. Thirty percent scored above the HADS-A- and 20% above the HADS-D thresholds, thus in the same range as previous studies of SB, but higher compared to persons with SCI and norms. HADS-D correlated with pain and FSS scores. Forty percent reported fatigue symptoms (9/15 without hydrocephalus, 3/6 with hydrocephalus). The study revealed a high prevalence of fatigue symptomatology among middle-aged and older adults with SB. Symptoms of anxiety and depression were more common than among persons with chronic SCI and norms. SB follow-ups should include awareness of psychological distress and fatigue, and investigate pain and medication side effects among possible influencing factors. Clinicians treating adult persons with SB should be aware of possible psychological distress and fatigue symptomatology among these patients. We suggest an initial screening for psychological distress and fatigue in persons with SB during follow-up visits and rehabilitation. Interventions to reduce pain may influence levels of psychological distress and/or fatigue in patients with SB. Clinicians should enquire about the effects of medication on fatigue when assessing and prescribing new medications; a thorough medication review helps to assess the benefits and risks. [ABSTRACT FROM AUTHOR]

Variations in split cord malformation (SCM) are known. However, association of SCM type I with myelomeningocele along with same level dorsal bony spur has not been described previously. We report a 1-year old male child who presented with these findings with associated syringomyelia, lipoma and tethered cord. [ABSTRACT FROM AUTHOR]

As sluggish cognitive tempo (SCT) shows similar inattention and neuropsychological dysfunction as youth with spina bifida (SB), it is important to examine whether neuropsychological functioning may affect the development of SCT in this population. Participants were 140 youth with SB and their parents who participated in five waves of a longitudinal study across eight years (ages 8–15 years at Time 1). At Time 1, teacher-, mother-, and father-report of SCT showed 9%, 8.3%, and 5.3% impairment in SCT respectively compared to other youth in the sample. Growth curves were used to examine changes over time in mother-, father-, and teacher-reported SCT. Four neurocognitive variables were included (attention, working memory, cognitive flexibility, plan/organize) as predictor variables of SCT growth and intercepts. Mother, father, and teacher-report of SCT were included in separate models. Age and shunt status were included as covariates in the growth models. Inattentive symptoms were also included as a covariate in working memory, shift, and plan/organize models. Worse working memory at Time 1 predicted an increase in mother-reported SCT symptoms over eight years (β = −.28) and poorer cognitive shifting skills predicted higher rates of teacher-reported SCT over time (β = −.61). All other neurocognitive variables predicted the intercept, but not the slope of SCT symptoms. Results indicate that worse neurocognitive functioning is associated with higher levels of SCT symptoms and that worse working memory and cognitive flexibility at baseline predicted an increase in SCT symptoms as youth with SB age. It may be important for clinicians to monitor and assess levels of SCT in youth with SB. [ABSTRACT FROM AUTHOR]

To assess self-perceived health and sense of coherence (SOC) in adolescents with spina bifida (SB) in the West Bank, Palestine, compared to a healthy reference group. Further, to assess the association between impairment levels in the adolescents with SB and their self-perceived health and SOC. Fifty adolescents with SB and 150 healthy adolescents completed measures of self-perceived health – the Pediatric Quality of Life Inventory (PedsQLTM 4.0) – and SOC. The rehabilitation center nurses identified the physical impairments of the adolescents with SB from their medical records, and classified them by impairment severity. Adolescents with SB reported lower self-perceived health (PedsQL median 55, IQR 42–67), than the reference group (median 85, IQR 74–90), p < 0.001, and lower SOC (median 47, IQR 44–50) than the reference group (median 55, IQR 44–61), p < 0.001. Impairment level was inversely associated with both self-perceived health and SOC. The low self-perceived health and SOC among adolescents with SB in Palestine indicate the need for collaboration between policy makers and providers to improve these adolescents' physical and social environment and to promote the rehabilitation services provided for them. The low self-perceived health and SOC among adolescents with SB in Palestine highlight the need to develop appropriate interventions to promote their health, independency, and self-care management. Collaboration of the caregivers and health care providers is required to develop, implement, and evaluate intervention programs that might promote coping abilities of the adolescents with SB. A multidisciplinary approach is needed to set goals that have a meaningful impact on social, emotional, behavioral, and educational conditions of the adolescents with SB and in different settings, for example, home, school, and community. The environment in Palestine presents barriers to the social engagement of adolescents with SB, and new ways are needed to enhance their participation in the society to promote their self-concept and wellbeing. [ABSTRACT FROM AUTHOR]

To evaluate first trimester maternal weight as a spina bifida screening marker. Case-control study of spina bifida and unaffected pregnancies; cases were from national records and controls from women referred to prenatal screening centers in the Ukraine. The median and inter-quartile range of weight, body mass index (BMI) and the obesity rate (BMI ≥ 30 kg/m2) were compared. Discriminatory power was assessed by logistic regression. Gaussian modeling was used to predict the additional spina bifida detection when weight was included as a screening marker risk in addition to first trimester biparietal diameter (BPD) and serum α-fetoprotein (AFP). There were 97 cases and 274 controls. The distribution of maternal weight was increased in cases by 3 kg, on average, about 5% (p <.05); BMI was increased about 8% (p <.005). Some 15% of cases were obese compared with 6.9% of controls (p <.02). In logistic regression including BMI and maternal age, 29% cases and 9.8% controls had high risk of spina bifida. Modeling predicted that incorporating weight would increase the detection rate compared with BPD and AFP alone by 3% and BMI would increase it by 4%. Incorporating maternal weight into first trimester spina bifida screening protocols will increase detection. [ABSTRACT FROM AUTHOR]

The purpose of this study was to perform a cross-cultural adaptation of the Functional Mobility Scale (FMS) to Brazilian Portuguese and analyse its construct validity and intra-rater reliability in a sample of caregivers of children and adolescents with spina bifida (SB). The cross-cultural adaptation followed five stages: two forward translations, synthesis, back-translation, committee review and pre-testing (n = 20). Construct validity was assessed by comparing the FMS with the classifications of Hoffer and Schoenmakers (n = 40). Intra-rater reliability was assessed by comparing the ratings of 14 caregivers, on two occasions. Kendall's tau correlation coefficient was used to test the construct validity of the FMS, while the kappa coefficient was used to test intra-rater reliability. Caregivers reported no difficulties with completing the FMS in Brazilian Portuguese. Construct validity tests showed positive correlations between the distances of 5 m (house), 50 m (school) and 500 m (community) in the FMS and the classifications of Hoffer (τ = 0.84; τ = 0.90; τ = 0.68; p < 0.01) and Schoenmakers (τ = 0.83; τ = 0.89; τ = 0.76; p < 0.01), respectively. Excellent intra-rater reliability (kappa = 0.9–1.0) was found for all three distances in the FMS. The FMS in Brazilian Portuguese showed acceptable intra-rater reliability and construct validity when used to measure the mobility level of patients with SB. We recommend its use in clinical practice and research. A valid and reliable instrument for assessing the mobility of patients with SB; A cross-cultural and adapted FMS in Brazilian Portuguese; An instrument for therapeutic and functional approaches outside the clinical setting; The FMS in the Brazilian Portuguese online version shows mistranslations. [ABSTRACT FROM AUTHOR]

Uveal colobomata are eye defects that result from failure of the optic fissure of the neuroectoderm-derived optic cup to close between weeks 5–7 of fetal life. Mutations in YAP1 have previously been linked to uveal coloboma. We present the clinical features and genetic basis of a one-year-old male with bilateral uveal colobomata. Clinical features were gathered from an age-appropriate evaluation and retrospectively from clinical records. DNA samples were collected from the proband, his uncle (who also had coloboma), both parents, and one sibling. Whole-genome sequencing of the coding regions and intron-exon boundaries confirmed a mutation in the proband. These genetic findings were verified using the Sanger method of DNA sequencing. The proband is a male with congenital bilateral colobomata (iris/retina/nerve), reduced vision, nystagmus with null point, bilateral microcornea, right microphthalmia, possible mild right hemifacial microsomia, a tubular nose, possible spina bifida occulta, and astigmatism. Whole-genome sequencing confirmed a heterozygous YAP1 frameshift mutation NM_001130145.3:c.178dupG p.(Asp60GlyfsTer52) in the proband. This mutation was absent in all other tested family members. We report a de novo mutation in YAP1 that likely results in nonsense-mediated decay. Given the association with YAP1 haploinsufficiency and colobomatous microphthalmia, this novel variant provides a molecular diagnosis for the proband. Further insight into YAP1 mutations may have implications in the prevention/treatment of uveal coloboma and other syndromic disorders. [ABSTRACT FROM AUTHOR]

Sedentary behavior (SB) is widely studied as it is associated with cardiometabolic health and obesity issues. However, children with Intellectual and Developmental Disabilities (IDD) have been understudied. Accelerometers are commonly used to measure SB in typically developing populations but may be inappropriate for IDD populations due to differences in body movement and physiologic responses to the activity. The use of Evenson sedentary cut-points, created based on typically developing children, has yet to be applied and/or examined in children with IDD. A descriptive cross-sectional study was conducted to (1) Assess the feasibility of applying Evenson sedentary cut-points in children with IDD (2) Describe SB over a two-week period between diagnosis groups. The SB of 22 participants (8 children with Down syndrome, 6 children with spina bifida, 8 children with no chronic illness) was assessed on two separate occasions: (1) during a 7-minute sedentary protocol, and (2) over a two-week period. The study supports the preliminary efficacy of using Evenson cut-points for this population, with 100% of participants being within the Evenson counts per minute (0–100 cpm) during the 7-minute sedentary protocol. The total volume of SB over a two-week period was not significantly different between diagnosis groups (8.8 h, 8.6 h, and 7.1 h of SB for children with Down syndrome, spina bifida, or those with no chronic illness, respectively; p = 0.36). Evenson sedentary cut-points can be used for children with IDD. Preliminary data suggest that children with IDD do not engage in significantly different SB than children without a chronic illness. Further study is warranted. Objective measures of physical activity and sedentary behavior for children with Down syndrome or spina bifida are rarely used due to potential differences in body movement (e.g., gait) during ambulation compared to typically developing peers that may influence the accuracy of cut-points. This study supports that Evenson sedentary cut-points can be used in children with Down syndrome or spina bifida to assess sedentary activity. Preliminary findings from this study demonstrate similarities in patterns of sedentary behaviors exhibited by our sample of children with Down syndrome, spina bifida, or no chronic illness. [ABSTRACT FROM AUTHOR]

Background MTHFR gene may be a key epigenetic regulation-related factor crucial during embryogenesis. We performed a meta-analysis to determine the association of fetal MTHFR C677T polymorphism with neural tube defects (NTDs). Methods A comprehensive literature search of the PubMed, Embase, and CNKI database was performed up to April 10, 2020. Results A total of 19 case-control studies with 2,228 NTDs cases and 4,220 controls were identified. Pooled data revealed that the fetal MTHFR C677T polymorphism was significantly highly correlated with development of NTDs in the overall population. Stratified analysis showed a significant association among Caucasians and Asians, but not in mixed populations. There was a significant association between the MTHFR C677T polymorphism and spina bifida risk. No publication bias was found under any genetic model. Conclusions Our pooled data support the fetal MTHFR C677T polymorphism association with risk of NTDs, especially among Caucasians and Asians. [ABSTRACT FROM AUTHOR]

The association of the fetal MTHFR A1298C (rs1801131) polymorphism and neural tube defects (NTDs) susceptibility has been widely demonstrated, but the results remain inconclusive. Thus, we performed a meta-analysis to investigate the association between fetal MTHFR A1298C polymorphism and NTDs risk. An electronic search of PubMed, web of science, SciELO, CNKI database for studies on the fetal MTHFR A1298C polymorphism and NTDs risk was performed up to March 30, 2020. A total of 22 case-control studies with 3,224 fetuses with NTDs and 3,295 controls were selected. Overall, pooled data showed that the fetal MTHFR A1298C polymorphism was not significantly associated with risk an increased risk of NTDs in the global population. When stratified analysis by ethnicity, country of origin and NTDs type, still no statistically significant association was found. Our pooled data emerged no evidence for significant association between fetal MTHFR A1298C polymorphism and NTDs risk. [ABSTRACT FROM AUTHOR]

Background: In utero neurologic injury in myelomeningocele (MMC) occurs via a two-hit process: failed neural tube closure followed by neurodegeneration in utero. Meconium in the amniotic fluid contains pancreatic digestive enzymes and is neurotoxic in rat models of MMC.Objectives: The objectives of this study were to demonstrate the neurotoxicity of α-amylase and to compare the enzyme concentration and activity in the amniotic fluid of rats with retinoic acid induced MMC to a healthy control population.Study Design: Timed pregnant Sprague Dawley rats were gavage fed all-trans retinoic acid (60 mg/kg) in olive oil on gestational day E10 to induce a MMC defect. Control rats received olive oil. Amniotic fluid was collected on embryonic days E15, E17, E19, and E21. The amniotic fluid amylase concentration and relative activity were measured at each gestational age, and levels were compared between the MMC and control groups using Wilcoxon Rank Sum and Kruskal-Wallis tests. In a subset of dams sacrificed on E10.5, neuroepithelial cells were isolated from control embryos and exposed to α-amylase in increasing concentrations. Percentage of cell survival was assessed with CellProfiler software.Results: Amniotic fluid amylase activity for embryonic days E15, E17, E19, and E21 was determined for MMC and control pups. Amylase activity increased significantly from E15 to E21 in both control (p = 3.0 × 10-5) and MMC (p = 1.5 × 10-5) groups. Relative amylase activity was significantly increased in MMC pups compared to controls on E19 (247,792.8 versus 106,263.6; p = .0019) and E21 (772,645.8 versus 481,975.3; p = .021); no difference was detected on E15 (36,646.8 versus 40,179.3; p = .645) or E17 (121,617.5 versus 71,750; p = 1.000). In vitro, amylase demonstrated dose-dependent toxicity to fetal rat neuroepithelial cells.Conclusion: Amylase concentration and activity level were higher in the amniotic fluid of rats with retinoic acid induced MMC compared to controls with advancing gestational age. As amylase is toxic to neural epithelial cells, the higher activity of this digestive enzyme in fetuses with MMC may be a contributor to neural tube damage in utero. Future research should focus on amylase and other digestive enzymes in human MMC, as they may serve as potential targets of in utero therapy. [ABSTRACT FROM AUTHOR]

To examine associations between neurosegmental and functional level classifications in children with Spina Bifida, and determine which classification best reflects daily walking activity. A prospective correlational study was conducted. Children with Spina Bifida were given ratings for lesion level [X-ray and International Myelodysplasia Study Group (IMSG) level determined by muscle strength] and functional level [Hoffer ambulatory level and Dias functional classification of myelomeningocele (FCM), Functional Mobility Scale (FMS)]. Daily walking activity was measured with a StepWatch monitor. Data were analyzed using Spearman rank correlation. Sixty-one children were included, [56% male, average age 9.8 (SD 2.7) years]. The neurosegmental level classifications, X-ray lesion level and IMSG level showed little to no correlation with each other (r = 0.17). Among functional classifications, the Dias FCM correlated strongly with the FMS (r = 0.80−0.87). Correlations with steps per day were moderate to good for the Dias FCM and the FMS (r = 0.53−0.62), fair for IMSG level (r = 0.45), and little to none for X-ray lesion level (r = 0.03). The Dias FCM is comprehensive, including elements of neurosegmental level and function, and correlates well with walking activity. We recommend its use for classifying function in patients with Spina Bifida. Functional classifications correlate better with daily walking activity than neurosegmental level classifications for patients with Spina Bifida. The Dias FCM includes neurosegmental and functional level elements, correlates well with daily activity, and is recommended for use in classifying Spina Bifida patients. Combined use of the FMS and activity monitoring is recommended for research and clinical assessment. [ABSTRACT FROM AUTHOR]

Background: Though much research has been done on the cognitive profiles of children, the abilities of patients with SBM as they age into adulthood are not well understood. Objective: Determine if adults with SBM have impairments in overall cognition, attention, executive function, and memory compared to typically developing adults or a standardized population mean. Methods: A medical librarian composed a search of spina bifida, adults, and cognitive function. 549 results were screened using title and abstract. Data were extracted using Covidence review software, including risk of bias assessments. 24 studies were included. Results: Memory impairments, notably working and prospective, have been reported. Results in other domains varied. Average VIQ or PIQ did not imply lack of impairment in other specific domains. Conclusion: Memory impairments should be accounted for and neuropsychological testing should be considered when providing care to adults with SBM. Future longitudinal cognitive aging and interventional studies are needed. [ABSTRACT FROM AUTHOR]

Neural tube defects can be as mild as spina bifida, to as severe as anencephaly, with only a fraction of these cases presenting as both craniorachischisis and exencephaly. Case report: The G3, P1011 mother was 25-years old, who at an estimated fetal gestational age of 17 weeks had a fetal diagnosis of anencephaly based on a sonogram, resulting in elective pregnancy termination. The female fetus had an open neural tube defect, consisting of craniorachischisis and exencephaly. No abnormalities were noted in any other organs. Conclusion: Although mostly associated with anencephaly, craniorachischisis can also be associated with exencephaly in early pregnancy. [ABSTRACT FROM AUTHOR]

Aims: This study aimed to investigate the relationship between lumbar lordosis angle (LLA) and trunk functions, sitting balance, functional independence, and lesion level in children with spina bifida (SB). Methods: Thirty children with SB were included. LLA was measured with a flexible ruler. The Pediatric Functional Reach Test (PRT), Trunk Impairment Scale (TIS), Functional Independence Measure for Children (WeeFIM), and International Myelodysplasia Study Group Criteria were used to evaluate sitting balance, trunk functions, functional independence, and motor lesion level respectively. The correlations were performed by using Spearman's correlation test. Results: There were significant correlations between the LLA and PRT, TIS, and WeeFIM results. Also, a significant correlation was found between the LLA and lesion level (p <.05). Conclusions: The development of the LLA in the normal range should be supported in rehabilitation approaches aiming to increase sitting balance, functional independence, and trunk functions in children with SB.Abbreviations: SB: Spina Bifida; LLA: Lumbar Lordosis Angle; MMS: Meningomyelocele; WeeFIM: Functional Independence Measure for Children; TIS: Trunk Impairment Scale; PRT: Pediatric Functional Reach Test [ABSTRACT FROM AUTHOR]

Objectives: To examine whether supratentorial, infratentorial, and calvarial manifestations of open spina bifida (OSB) occur in the first-trimester.Methods: Supratentorial (midbrain curvature, thalamic height), infratentorial (fourth ventricle diameter, brain-stem diameter [BSD], ratio of BSD to BSD-occipital bone diameter [BSOB]), and calvarial (frontomaxillary facial [FMF] angle) parameters were measured in stored midsagittal facial images at 110-136 weeks of 500 normal and 10 open spina-bifida fetuses by 3 blinded examiners.Results: OSB fetuses displayed a larger midbrain curvature (93.26 ± 6.97 versus 97.79 ± 10.04, p < .05), decreased FMF angle (84.10 ± 5.44 versus 78.46 ± 5.82, p < .001), smaller fourth ventricle diameter (0.25 ± 0.04 mm versus 0.18 ± 0.05 mm, p < .001), smaller BSD (0.29 ± 0.04 mm versus 0.23 ± 0.04 mm; p < .001), and increased BSD to BSOB ratio (0.64 ± 0.71 versus 0.73 ± 0.93, p < .03) than normal controls, respectively. Thalamic height was not significantly altered. Detection rates of OSB were highest for fourth ventricle diameter and FMF angle (60% and 40%, respectively, at 95% specificity). BSD, BSD to BSOB ratio, midbrain curvature yielded sensitivities of 30% with 95% specificity. Two-dimensional discrimination for pairs of measures combining fourth ventricle diameter with FMF angle increased sensitivity to 90% with specificity of 90.7%.Conclusions: Our findings suggest that supratentorial, infratentorial, and calvarial changes consistent with the Chiari-II malformation are already established in first-trimester fetuses with OSB. [ABSTRACT FROM AUTHOR]

Objective: This study compared the morbidities and financial burden associated with prenatal open myelomeningocele repair versus postnatal repair.Materials and Methods: The retrospective study cohort included 23 mother-infant dyads undergoing prenatal repair and 30 with postnatal repair. Financial, demographic, and medical information were obtained for mother-infant dyads from each infant's birth through the first year of life.Results: Infants in the prenatal repair group were significantly affected by sequelae of prematurity, including apnea, bronchopulmonary dysplasia, and retinopathy of prematurity. Importantly, fewer of these infants required ventriculoperitoneal shunt procedures and the overall improved composite outcome of shunting or death. Infants in the postnatal repair group required more hospital readmissions in the first year of life. Financial costs for mother-infant dyads in the prenatal repair group were higher, driven by the length of stay in the neonatal intensive care unit and maternal hospital admissions. Kaplan-Meier curves analyzing the relative contributions of the length of stay and total charges in the population were constructed. The maternal contribution was markedly different between groups due to postoperative hospitalization, readmission, and close fetal surveillance required. Though these differences did not reach statistical significance, it highlights an important burden on families and the medical system.Conclusions: This is the first study to report the contributions of prematurity in relation to maternal and infant morbidity and financial costs. The benefits of prenatal myelomeningocele repair include lower risk for ventriculoperitoneal shunting and fewer hospital readmissions. The risk of preterm birth and its neonatal sequelae continue to be a significant burden. [ABSTRACT FROM AUTHOR]

Executive dysfunction causes significant real-life disability for children with spina bifida (SB) and acquired brain injury (ABI), and efficient interventions are needed. Goal Management Training (GMT) is a cognitive rehabilitation intervention for improving executive function (EF) that has received empirical support in studies of adults with SB and ABI. The purpose of this study was to determine the feasibility and acceptability of a newly developed pediatric GMT protocol (pGMT). Thirteen children (7 boys, 10-16 years) with SB (n = 4), traumatic brain injury (n = 8), and encephalitis (n = 1) were included, based upon the presence of EF problems as described by parents. The participants received 21 h of pGMT, using inpatient intervention periods, followed by 4 h of pGMT outpatient guidance over 8 weeks. Notably, pGMT was found to be both feasible and acceptable, with satisfactory compliance for the children, parents and teachers, in addition to being considered acceptable by all participants. Furthermore, a reliable change in daily life EF was reported by the parents for 2 children. And, some children obtained scores below clinical cut-off on a measure of parent reported real-life EF after intervention. Hence, findings suggest that a randomized controlled trial of pGMT, with a larger sample size, should be conducted. [ABSTRACT FROM AUTHOR]

To determine prevalence, incidence and risk factors for foot pressure ulcers in ambulatory children with spina bifida. Retrospective cohort study of 72 ambulatory children (age range 0–23.9 years) with spina bifida treated at a pediatric tertiary care facility. Data on foot pressure ulcers were recorded and analyzed to determine prevalence, incidence and predictive factors. Foot pressure ulcers occurred in 50/143 limbs (35%) over 10.5 ± 3.5 years. Average incidence was 0.10 foot pressure ulcer incidents per person-year, and prevalence in years with complete follow-up was 8.8%. Prevalence was related to age [higher for ages 11–15 (17%), than ages 0–10 (5%) and 16+ years (7%), p < 0.0001], and varus/valgus foot deformities (p < 0.001) and brace use (0.32 risk difference, p = 0.01), but not with standing foot position, deformity rigidity, body mass index, spina bifida type, lesion level, ambulatory level or co-morbidities. Most common sites were the heel (21/96, 22%), lateral malleolus (12/96, 13%), and plantar 5th metatarsal head (11/96, 12%). Foot pressure ulcers occur in nearly 1 out of 10 ambulatory children with spina bifida, most often in pre-teens or young teen-agers with foot deformities, who use braces. This information can help direct skin care education and prevention to those most vulnerable. Foot pressure ulcers occur in children and adolescents with spina bifida, most commonly in those aged 11-15 years, with foot deformities and who use braces. Ulcer development was unrelated to stiffness of foot deformity, body mass index, lesion or functional level, or presence of comorbidities such as Arnold-Chiari malformation, syringomyelia or shunted hydrocephalus. Skin care education and preventative measures should be provided to all patients, but with particular emphasis for those with these risk factors. [ABSTRACT FROM AUTHOR]

Little is known about how youth with spina bifida (SB) acquire adaptive functioning skills across development. Therefore, the current study examined: (1) trajectories of adaptive functioning in youth with SB as they transitioned from childhood into adolescence, and (2) neuropsychological functioning as a potential risk factor for long-term adaptive functioning difficulties. Participants (n = 131 youth with SB) were recruited as part of a larger ongoing longitudinal study. Growth curves were used to examine changes over time across six adaptive functioning skills: communication, self-direction, functional academics, social, self-care, and home living skills. Additionally, youth's attention and executive functioning (i.e., working memory, planning/organizational skills, cognitive flexibility, inhibition) were assessed via questionnaires and performance-based assessments, and entered as predictors in the models. Youth's communication, self-direction, functional academics, self-care, and home living skills increased over time across age, whereas youth's social skills did not. Scaled scores for youth's social, communication, self-direction, and functional academics skills were generally within normal limits, whereas those for self-care and home living skills fell in the borderline range. Better attention and executive functioning predicted a higher intercept for many adaptive functioning abilities at 11.5 years old, above and beyond the influence of IQ. However, these variables did not predict growth in adaptive functioning. Results indicate that youth with SB acquire skills across development to better meet the demands of daily life. However, youth with poorer neurocognitive functioning may demonstrate adaptive functioning deficits in early childhood and benefit from timely intervention. [ABSTRACT FROM AUTHOR]

Spina bifida myelomeningocele is a major cause of disability among adolescents. However, little research is available in low-income nations such as South Africa. Investigating the contributors and hindrances to well-being in adolescents with spina bifida myelomeningocele may yield novel insights. In this study we included both adolescents and their primary caregivers to examine their perspectives on caring for and facilitating improvements in the life of the adolescents living with spina bifida myelomeningocele. To identify and document the perceptions of adolescents with spina bifida myelomeningocele and their primary caregivers on the factors that contribute to and hinder the well-being of adolescents living with spina bifida myelomeningocele in South Africa. An explorative qualitative research design was utilized, guided by a positive psychology theoretical framework. Fourteen participants, consisting of seven adolescent-primary caregiver dyads, were interviewed. Data were analyzed using thematic analysis and coded inductively using ATLAS.ti software. We identified eight themes describing participants' perceptions on contributors and hindrances to the well-being of adolescents with spina bifida myelomeningocele. Contributing factors included: family support, social groups, special needs education, sport participation, striving for independence, and finding meaning in life. Hindrances included: structural (lack of resources, medical care and mobility challenges) and social (bullying and harmful friendships, secrecy about the condition, social isolation and unhappiness) hindrances to well-being. Acknowledging the contributors and hindrances to the well-being of adolescents with spina bifida myelomeningocele is crucial for guiding informed positive interventions and preventing blind spots. Given the limited number of positive contexts, concentrated effort is required to facilitate opportunities for growth in a range of environments. Primary caregivers lack insight into the positive and negative aspects of the adolescents' lives. We suggest families prioritize bonding time and open communication. Exploring the perspectives of adolescents living with spina bifida and their parents regarding well-being is important to develop appropriate interventions. Adolescents living with spina bifida value social support and social interaction as ways to maintain well-being. Special needs education institutions with curriculums tailored to adolescents with spina bifida promote comfort, acceptance, and personal excellence. Sport contributes to the mental, social and physical well-being of adolescents with spina bifida. Sport inspires and offers opportunities for success, it improves school attendance, increases positive affect, and provides opportunities for close relationships with friends and family. Finding ways to mitigate the stigma around spina bifida is necessary to improve adolescents' well-being within South Africa. [ABSTRACT FROM AUTHOR]

Children with low lumbar and sacral level myelomeningocele are expected to be community ambulators. However, they do not always meet the expected ambulation level by the time they reach adulthood. The purpose of this study is to investigate daily activity energy expenditure and physical activity levels of these patients in daily routine. 20 patients and 20 healthy peers were included in this case-control study. Omnidirectional accelerometer monitor was used for assessing activity energy expenditure, and daily durations spent in sedentary, light activity, and moderate to vigorous physical activity levels (NCT04186338). Mean activity energy expenditure and moderate to vigorous physical activity duration were significantly lower in the patient group, while age was positively correlated with sedentary time and negatively correlated with light activity time. In patients with myelomeningocele, increasing daily activity energy expenditure and moderate to vigorous physical activity and, especially as age progresses, decreasing the sedentary behavior may assist in providing the expected ambulation level. These patients should be encouraged to partake in regular exercise programs. [ABSTRACT FROM AUTHOR]

This pilot study examined the impact of an occupation based intervention using a telerehabilitation format with adolescents with myelomeningocele (MMC). We conducted a nonrandomized pilot study including four adolescents ages 14–18 with MMC. The intervention program included 10–12 sessions of the Cognitive Orientation to daily Occupational Performance remotely delivered via videoconferencing. Outcome measures included the Canadian Occupational Performance Measure (COPM), Wee-Functional Independence Measure;(Wee-FIM), and the Pediatric Quality of Life Inventory (PedsQL). Assessments were administered at baseline, post intervention and at three-month follow-up. Following intervention, participants rated their performance as having improved 2 points on the COPM for 8 out of 12 trained goals and on 2 out of 8 untrained goals. At 3-month follow-up improvement was reported on 9 out of 12 trained goals and 3 out of 8 untrained goals All participants made clinically significant improvements on the Wee-FIM total score following intervention and improvements were maintained at 3-month follow-up. The intervention effect on the PedsQL was inconclusive. Feedback interviews suggested that participants experience high satisfaction from the results and implementation of the intervention. Our results demonstrate potential efficacy of occupation based teleintervention for adolescents with MMC. [ABSTRACT FROM AUTHOR]

Congenital spinal lipomatous malformations (spinal lipomas, lipomyeloceles, and lipomyelomeningoceles) are closed neural tube defects over the lower back. Differentiation from some other closed neural tube defects in this region can be problematic for pathologists. This review is based on PubMed searches of the embryology, gross and histopathologic findings, and laboratory reporting requisites for retained medullary spinal cords, coccygeal medullary vestiges and cysts, myelocystoceles, true human vestigial tails, and pseudotails for comparison with congenital spinal lipomatous malformations. Embryology, imaging, gross and histopathology of these closed neural tube lesions have different but overlapping features compared to congenital spinal lipomatous malformations, requiring context for diagnosis. The lipomyelocele spectrum and to some degree all of the malformations discussed, even though they may not share gross appearance, anatomic site, surgical approach, or prognosis, require clinical and histopathologic correlation for final diagnosis. [ABSTRACT FROM AUTHOR]

Purpose: To study physical function perspectives in persons with spina bifida (SB) aged ≥50 years. In relation to this, we also wanted to survey participation perspectives, health issues and health services usage. Methods: We used predefined fixed questions to interview community-dwelling adults with SB in Norway. Physical function assessments included Timed Up and Go, the Six Minute Walk Test, and BMI was calculated. Descriptive statistics were used, and logistic regression was performed to study variables associated with community walking. Results: Eighteen women and twelve men, twenty-four of them without hydrocephalus, participated in the study. Their mean age was 57.5 years (range 51–76). The majority were well-functioning persons, with 53% employed. However, deterioration in ambulation started at a median age of 40 years in >80% of the participants. Higher odds for being a community walker were found for sacral SB, BMI < 30, and/or being more physical active per week. More than 60% of the study sample used antihypertensive medication, and 43% were obese (BMI ≥ 30). Pain was a commonly perceived health problem. About 50% had been through a comprehensive SB-specific health evaluation in adulthood. Conclusion: The striking results on obesity, hypertension, pain and deterioration in ambulatory function in middle-aged and elderly SB cases call for action. Our findings elucidate the importance of prevention and clinical follow-up throughout the lifespan, even in well-functioning SB cases. Weight-management and interventions to reduce hypertension are issues that need attention in follow-up and as part of secondary rehabilitation in spina bifida. Early deterioration in ambulatory function and pain in spina bifida are target areas for multidisciplinary secondary rehabilitation, and should adequately focus on maintaining or improving "real-life" functioning performance. Neurogenic bowel and fecal incontinence are important in relation to social participation in ageing spina bifida. Rehabilitation programs and research should take the level of cele and hydrocephalus into account. [ABSTRACT FROM AUTHOR]

Background: Case-control studies have consistently suggested an association between pre- or periconceptional maternal obesity and an increased risk for neural tube defects (NTDs). Few studies have examined the association between body mass index (BMI) and NTDs using measured weight and height. We examined this association in a large cohort study in China.Methods: We used data from a large population-based cohort study established to evaluate the effectiveness of folic acid supplementation to prevent NTDs in China. BMI was computed using maternal weight and height measured before pregnancy or during early pregnancy. External birth defects were identified through a unique birth defects surveillance system. We estimated the birth prevalence and prevalence odds ratios (POR) for NTDs by Chinese BMI categories, controlling for potential confounders.Results: Our study population included a total of 194,844 women. We observed significantly elevated risk for spina bifida (adjusted POR = 5.4, 95% CI: 1.3-22.5) among children born to obese compared to normal weight women. Among women who took folic acid supplements, the adjusted POR for spina bifida among obese women was 10.0 (95% CI: 2.3-42.6) compared to pill users who were of normal weight. Borderline significantly elevated risk was observed for anencephaly (adjusted POR = 1.8; 95% CI: 1.0-3.2) among children born to underweight compared to normal weight women.Conclusions: Our findings suggest that maternal periconceptional obesity may be associated with an increased risk for spina bifida. Maternal underweight may be associated with increased risk for anencephaly. [ABSTRACT FROM AUTHOR]

Purpose: Participation is defined as involvement and engagement in all life situations and is seen as an essential condition for children's development. Here, we analyzed the patterns and predictors of participation for Lithuanian children and adolescents with spina bifida (SB). Material and methods: A cross-sectional design was employed. Parents of children aged 5–18 years with SB (n = 99) completed the Participation and Environment Measure for Children and Youth. Information about children's health conditions and functional issues was also collected. Descriptive statistics were used to analyze participation patterns, and multiple linear regression analyses were employed to identify the significant explanatory factors in each setting. Results: Participation restriction was mainly observed in preschool/school and the community settings. The environmental factors consistently explained at least one dimension of participation across all settings. Intellectual abilities had a substantial effect on participation in the home and preschool/school setting, whereas the contribution of bowel incontinence was observed in the preschool/school setting. Conclusions: Our findings highlight the role of intellectual functioning, bowel continence, and the environmental factors in explaining participation of children with SB across different settings and, therefore, demonstrate the need for more supports and environmental modifications (especially for those who have lower level of cognitive abilities), as well as interventions targeting improved bowel continence. Children with spina bifida had low levels of participation in the community and preschool/school settings. The most important predictors for participation were intellectual abilities, bowel continence, and the environmental factors. Practitioners should pay more attention to environmental modifications (especially for children who have lower level of cognitive abilities) as primary targets of interventions aimed at promoting participation. Strategies to improve bowel continence could improve participation in the preschool/school setting. [ABSTRACT FROM AUTHOR]