Journal articles on the topic 'Spina bifida (SB)'
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1
Iqbal, Muhammad Arslan, Muhammad Zohaib Chaudhary, Muhammad Waseem Abbas, Faiza Maqsood, Fiza Fatima, and Muhammad Nouman Iqbal. "SPINA BIFIDA;." Professional Medical Journal 23, no. 08 (August 10, 2016): 893–901. http://dx.doi.org/10.29309/tpmj/2016.23.08.1659.
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Spina Bifida (SB) is a neural tube defect (NTD) due defect in neural tube,characterized by incomplete closure of spinal column. Occurrence of SB varies in differentcountries. In developed countries, it is about 0.4 per 1000 births, in US 0.7 per 1000 births and inAsia 1.9 per 1000 births. SB mostly occurs during first trimester of pregnancy. Variants of SB areSpina bifida Occulata, Spina bifida Cystica [meningocele and myelomeningocele], Spina bifidaManifesta and Spina bifida Aperta. Among these myelomeningocele is the most common type.Causing agents of SB may be genetic, non-genetic or environmental factors. Non-genetic factorsinvolve anti-convulsant drugs, anti-epileptic drugs, maternal obesity, maternal diabetes andpoor nutritional status (folate and vitamin B12 deficiency). Environmental factors are pesticides,nitrated compounds and air pollution. Common manifestations are brain malformations (ArnoldChiari II malformation and hydrocephalus), spinal cord abnormalities, latex allergy, breathingproblems, urological abnormalities and cardio-metabolic dysfunction. Diagnostic techniquesfor Spina bifida are ultrasound screening, Magnetic Resonance Imagining (MRI), amniocentesisand maternal serum alpha-fetoprotein. To prevent the risk of Spina bifida, it is recommended forthe mother to use 0.4mg of folic acid per day or in mothers affected with multiple pregnanciesrecommended dose of folic acid is 4mg per day.
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O’Neil, Joseph, and John S. Fuqua. "Short stature and the effect of human growth hormone: Guidelines for the care of people with spina bifida." Journal of Pediatric Rehabilitation Medicine 13, no. 4 (December 22, 2020): 549–55. http://dx.doi.org/10.3233/prm-200710.
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It is estimated that a significant percentage of individuals with spina bifida (SB) are shorter than their age-matched typical peers. Parents of children with spina bifida may ask if human growth hormone is appropriate for their child. This article discusses short stature and the use of human growth hormone among children with SB. This guideline was developed for SB Healthcare Guidelines from the 2018 Spina Bifida Association’s Fourth Edition of the Guidelines for the Care of People with Spina Bifida.
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Kritikos, Tessa K., Kathryn Smith, and Grayson N. Holmbeck. "Mental health guidelines for the care of people with spina bifida." Journal of Pediatric Rehabilitation Medicine 13, no. 4 (December 22, 2020): 525–34. http://dx.doi.org/10.3233/prm-200719.
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Spina bifida’s (SB) impact on cognitive, physical, and psychosocial functioning places individuals at risk for mental health concerns. This article discusses the SB Mental Health Guidelines from the 2018 Spina Bifida Association’s Fourth Edition of the Guidelines for the Care of People with Spina Bifida and reviews evidence-based directions with the intention of helping individuals with SB achieve optimal mental health throughout the lifespan. Guidelines address clinical questions pertaining to the psychosocial impact of SB on mental health and adaptation, domains of mental health that are affected in individuals with SB, areas of resilience, common maladaptive behaviors that may impact people with SB, and resources or practices that are helpful in mitigating mental health issues in this population. Gaps in the research and future directions are discussed.
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Wilson, Pamela E., and Shubhra Mukherjee. "Mobility guidelines for the care of people with spina bifida." Journal of Pediatric Rehabilitation Medicine 13, no. 4 (December 22, 2020): 621–27. http://dx.doi.org/10.3233/prm-200744.
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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.
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Queally, Jennifer T., Marcia A. Barnes, Heidi Castillo, Jonathan Castillo, and Jack M. Fletcher. "Neuropsychological care guidelines for people with spina bifida." Journal of Pediatric Rehabilitation Medicine 13, no. 4 (December 22, 2020): 663–73. http://dx.doi.org/10.3233/prm-200761.
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While the neuropsychological profile for individuals with Spina Bifida (SB) can vary, often certain patterns of strengths and weaknesses are evident across the lifespan. Understanding variability related to neural structure, genetics, ethnicity, and the environment is key to understanding individual differences in outcomes and can be vital in planning interventions and tracking progress. This article outlines the SB Guideline for the Neuropsychological Care of People with Spina Bifida from the 2018 Spina Bifida Association’s Fourth Edition of the Guidelines for the Care of People with Spina Bifida and acknowledges that further research in SB neurocognitive profiles is warranted.
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Church, Paige Terrien, Heidi Castillo, Jonathan Castillo, Anne Berndl, Timothy Brei, Gregory Heuer, Lori J. Howell, and Mark Merkens. "Prenatal counseling: Guidelines for the care of people with spina bifida." Journal of Pediatric Rehabilitation Medicine 13, no. 4 (December 22, 2020): 461–66. http://dx.doi.org/10.3233/prm-200735.
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As the diagnosis of Spina Bifida (SB) is often made prenatally, SB-specific prenatal counseling is needed. It is essential to provide information about medical care and lifelong impact of this diagnosis, treatment options available to women carrying fetuses affected, and resources that will assist in the care of individuals with SB. This article outlines the SB Prenatal Counseling Guidelines from the 2018 Spina Bifida Association’s Fourth Edition of the Guidelines for the Care of People with Spina Bifida and acknowledges that further research in SB prenatal counseling is warranted.
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Schindelmann, Kim Hannah, Fabienne Paschereit, Alexandra Steege, Gisela Stoltenburg-Didinger, and Angela M. Kaindl. "Systematic Classification of Spina Bifida." Journal of Neuropathology & Experimental Neurology 80, no. 4 (February 12, 2021): 294–305. http://dx.doi.org/10.1093/jnen/nlab007.
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Abstract Spina bifida (SB) is an umbrella term for multiple conditions characterized by misclosure of vertebral arches. Neuropathologic findings in SB cases are often reported with imprecise and overlapping terminology. In view of the increasing identification of SB-associated genes and pathomechanisms, the precise description of SB subtypes is highly important. In particular, the term “myelomeningocele” is applied to various and divergent SB subtypes. We reevaluated 90 cases with SB (58 prenatal; 32 postnatal). The most frequent SB phenotype in our cohort was myeloschisis, which is characterized by an open neural plate with exposed ependyma (n = 28; 31.1%). An open neural plate was initially described in only in two-thirds of the myeloschisis cases. An additional 21 cases (23.3%) had myelomeningocele; 2 cases (2.2%) had a meningocele; and 21 cases (23.3%) had an unspecified SB aperta (SBA) subtype. Overall, the SB phenotype was corrected in about one-third of the cases. Our findings highlight that “myelomeningocele” and “SB aperta” cannot be used as synonymous terms and that myeloschisis is an underreported SB phenotype. Based on our findings and a review of literature we propose a classification of SB subtypes in SB occulta and the 3 SBA subtypes, meningocele, myelomeningocele, and myeloschisis.
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Castillo, Jonathan, Heidi Castillo, Judy K. Thibadeau, and Tim Brei. "Spina bifida care, education, and research: A multidisciplinary community in a global context." Journal of Pediatric Rehabilitation Medicine 14, no. 4 (December 23, 2021): 569–70. http://dx.doi.org/10.3233/prm-219015.
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Worldwide neural tube defects, such as encephalocele and spina bifida (SB), remain a substantial cause of the global burden of disease; and in the US, Latinos consistently have a higher birth prevalence of SB compared with other ethnic groups. From limited access and fragmented care, to scarcely available adult services, many are the challenges that besiege those living with SB. Thus, to provide inclusion and active involvement of parents of children and adults with SB from all communities, innovative approaches will be required, such as community-based participatory research and culturally competent learning collaboratives. Promisingly, the Spina Bifida Community-Centered Research Agenda was developed by the community of people living with SB through the Spina Bifida Association (SBA). Additionally, the SBA will host the Fourth World Congress on Spina Bifida Research and Care in March of 2023. Just as the SBA is clearly committed to this population, the Journal of Pediatric Rehabilitation Medicine will continue to serve as a catalyst for SB care, education, and research across the SB population in a global context.
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Meneses, Veronica, Sarah Parenti, Heather Burns, and Richard Adams. "Latex allergy guidelines for people with spina bifida." Journal of Pediatric Rehabilitation Medicine 13, no. 4 (December 22, 2020): 601–9. http://dx.doi.org/10.3233/prm-200741.
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An estimated 85% of individuals with spina bifida (SB) survive into adulthood, warranting SB-specific transition to adult healthcare guidelines to address the diverse and complex medical, adaptive, and social needs particular to this condition. Latex allergy constitutes one important health concern for this population that requires ongoing and life-long evidence-based management. This article discusses management of latex allergy according to the SB Latex Allergy Healthcare Guidelines from the 2018 Spina Bifida Association’s Fourth Edition of the Guidelines for the Care of People with Spina Bifida, reviews current care models in which such latex allergy guidelines can be implemented, and explores further relevant research topics in SB care relative to latex allergy.
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Van Speybroeck, Alexander, Patricia Beierwaltes, Betsy Hopson, Suzanne McKee, Lisa Raman, Ravindra Rao, and Rebecca Sherlock. "Care coordination guidelines for the care of people with spina bifida." Journal of Pediatric Rehabilitation Medicine 13, no. 4 (December 22, 2020): 499–511. http://dx.doi.org/10.3233/prm-200738.
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Care coordination is the deliberate organization of patient care activities between two or more participants (including the patient) involved in a person’s care to facilitate the appropriate delivery of health care services. Organizing care involves the marshalling of personnel and other resources needed to carry out all required patient care activities. It is often managed by the exchange of information among participants responsible for different aspects of care [1]. With an estimated 85% of individuals with Spina Bifida (SB) surviving to adulthood, SB specific care coordination guidelines are warranted. Care coordination (also described as case management services) is a process that links them to services and resources in a coordinated effort to maximize their potential by providing optimal health care. However, care can be complicated due to the medical complexities of the condition and the need for multidisciplinary care, as well as economic and sociocultural barriers. It is often a shared responsibility by the multidisciplinary Spina Bifida team [2]. For this reason, the Spina Bifida Care Coordinator has the primary responsibility for overseeing the overall treatment plan for the individual with Spina Bifida[3]. Care coordination includes communication with the primary care provider in a patient’s medical home. This article discusses the Spina Bifida Care Coordination Guideline from the 2018 Spina Bifida Association’s Fourth Edition of the Guidelines for the Care of People with Spina Bifida and explores care coordination goals for different age groups as well as further research topics in SB care coordination.
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Sawin, Kathleen J., Timothy J. Brei, and Amy J. Houtrow. "Quality of life: Guidelines for the care of people with spina bifida." Journal of Pediatric Rehabilitation Medicine 13, no. 4 (December 22, 2020): 565–82. http://dx.doi.org/10.3233/prm-200732.
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Quality of Life (QOL) and Health-Related Quality of Life (HRQOL) are important concepts across the life span for those with spina bifida (SB). This article discusses the SB Quality of Life Healthcare Guidelines from the 2018 Spina Bifida Association’s Fourth Edition of the Guidelines for the Care of People with Spina Bifida. The focus of these QOL Guidelines was to summarize the evidence and expert opinions on how to mitigate factors that negatively impact QOL/HRQOL or enhance the factors positively related to QOL/HRQOL, the measurement of QOL/HRQOL and the gaps that need to be addressed in future research.
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Almutlaq, Nourah, Joseph O’Neil, and John S. Fuqua. "Central precocious puberty in spina bifida children: Guidelines for the care of people with spina bifida." Journal of Pediatric Rehabilitation Medicine 13, no. 4 (December 22, 2020): 557–63. http://dx.doi.org/10.3233/prm-200728.
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Children with spina bifida are at greater risk of developing central precocious puberty (CPP) compared to others. Therefore, early recognition and timely referral for further evaluation by a pediatric endocrinologist allows appropriate management that reduces the impact of CPP. This article discusses the diagnosis and management of CPP in children with spina bifida. This guideline was developed for SB Transition Healthcare Guidelines from the 2018 Spina Bifida Association’s Fourth Edition of the Guidelines for the Care of People with Spina Bifida.
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Berndl, Anne, Margaret Nosek, and Ashley Waddington. "Women’s health guidelines for the care of people with spina bifida." Journal of Pediatric Rehabilitation Medicine 13, no. 4 (December 22, 2020): 655–62. http://dx.doi.org/10.3233/prm-200757.
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Women and girls with spina bifida have specific health care concerns. It is essential that they, and their health care providers have access to information to help them make healthy choices throughout their lifespan. This article aims to address key aspects of health pertinent to girls and women with spina bifida and outlines the SB Women’s Health Guidelines for the Care of People with Spina Bifida. Further research into this area is needed.
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Bong, Gary W., and Eric S. Rovner. "Sexual Health in Adult Men with Spina Bifida." Scientific World JOURNAL 7 (2007): 1466–69. http://dx.doi.org/10.1100/tsw.2007.191.
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Medical and surgical advances in the treatment of spina bifida (SB) have resulted in increasing numbers of patients reaching adulthood. As such, issues related to sexual maturity are being investigated to offer optimal healthcare to men with spina bifida. This report constitutes a review of the current literature relating to adults with spina bifida and issues of sexuality, erectile dysfunction and fertility. In general, adult males with spina bifida have normal sexual desires and an interest in addressing these issues with healthcare providers. Sexual education and access to intimacy are delayed compared to the general population. 75% of men achieve erections, but maintaining erections is a problem and some may be merely reflexive in nature. The many of these men show marked improvement with sildenafil. In SB erectile dysfunction and infertility are related to the level of neurological lesion with the best performance status in those with sacral lesions and intact reflexes. Men with lesions higher than T10 are at risk for azoospermia. There is an increased risk of neural tube defects in the children of men with spina bifida, but the current incidence with modern folic acid therapy is unknown. As the number of males with spina bifida reaching sexual maturity increases, further investigation into sexuality, sex education, intimacy, and treatments for erectile dysfunction and infertility will be needed.
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Fremion, Ellen, Rachel Madey, Kristen A. Staggers, Melissa Morrison-Jacobus, Larry Laufman, Heidi Castillo, and Jonathan Castillo. "Factors associated with self-management independence and quality of life for adolescents and young adults with spina bifida engaged in a guideline-based transition clinic." Journal of Pediatric Rehabilitation Medicine 14, no. 4 (December 23, 2021): 631–41. http://dx.doi.org/10.3233/prm-200758.
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PURPOSE: To determine characteristics associated with self-management independence and quality of life (QOL) among adolescents and young adults with spina bifida (AYASB) engaged in a spina bifida (SB) health care transition clinic. METHODS: During SB transition visits, Eighty-eight AYASB ages 14-20 completed the Adolescent/Young Adult Self-management and Independence Scale II Self-Report/SB (AMIS II-SR/SB), scores ranging from 1–7 with 7 indicating full independence in activities, and the QUAlity of Life Assessment in Spina bifida for Teens (QUALAS-T), which has two subscales, family/independence (QFI) and bowel/bladder (QBB), with scores ranging from 0-100 with 100 indicating maximal QOL score. Demographic and clinical variables were collected from the electronic medical record. RESULTS: The baseline AMIS II-SR/SB score was 3.3 (SD 1.0). Baseline scores for QUALAS-T QFI and QBB subscales were 73.8 (SD 19.9) and 63.8 (SD 25.8). Older age was associated with a higher baseline AMIS II-SR/SB score (p = 0.017). Over time, AMIS II-SR/SB total significantly improved (p < 0.001), but QFI and QBB did not. AYASB not on chronic intermittent catheterization (CIC) and those using urethral CIC significantly improved in AMIS II-SR/SB total scores (p = 0.001), but those using abdominal channel CIC did not. CONCLUSION: Baseline bladder management method was associated with self-management improvement for AYASB engaged in a SB-specific transition clinic.
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Nikolic, D., S. Cvjeticanin, I. Petronic, R. Brdar, D. Cirovic, M. Bizic, Z. Milincic, and R. Karan. "Individual Phenotype Trait Variability as Genetic Markers of Gender Susceptibility to Spina Bifida." Balkan Journal of Medical Genetics 14, no. 1 (January 1, 2011): 11–17. http://dx.doi.org/10.2478/v10034-011-0012-5.
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Individual Phenotype Trait Variability as Genetic Markers of Gender Susceptibility to Spina BifidaWe compared individual trait variability in 65 male and 81 female patients with spina bifida occulta (SBO) or spina bifida aperta (SBA) against 170 male and 200 female subjects randomly selected Serbian subjects without these conditions. Variability was evaluated by direct observation of 15 homozygous recessive traits (HRT), while gender was evaluated separately. Individual trait variations between genders in SBO patients (4/15 HRT) and in SBA patients (12/15 HRT) showed remarkable differences. Individual trait variations between the male control group and SBO (9/15 HRT), between the female control group and SBO (5/15 HRT), between the male control group and SBA (8/15 HRT), between the female control group and SBA (9/15 HRT), between male SBO and SBA patients (6/15 HRT), between female SBO and SBA patients (6/15 HRT), also indicated remarkable differences. These differences could be explained by different expression of genes that may contribute to expression of spina bifida (SB).
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Mazur, Lynnette, Danielle Bishop, and Najma Aijaz. "A Prenatal Diagnosis and Repair of Spina Bifida." Journal of Surgical Case Reports and Images 4, no. 5 (July 19, 2021): 01–04. http://dx.doi.org/10.31579/2690-1897/073.
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Before the 2011 Management of Meningomyelocele Study (MOMS) was published, the standard of care for SB was surgical closure of the defect shortly after birth. The MOMS trial showed that prenatal repair could limit damage to exposed spinal contents, arrest spinal fluid leakage, reverse hindbrain herniation, and improve fetal outcomes. Repair,usually between 19 and 25 weeks gestation is done by hysterotomy or a laparoscopic procedure
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Mukminin, Amiril, and Wienta Diarsvitri. "KELAINAN KONGENITAL MULTIPEL PADA NEONATUS DENGAN SPINA BIFIDA: SERIAL KASUS." Surabaya Biomedical Journal 1, no. 2 (January 31, 2022): 129–36. http://dx.doi.org/10.30649/sbj.v1i2.19.
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Pendahuluan: Spina bifida (SB) merupakan suatu kelainan kongenital sistem saraf pusat dengan prevalensi tertinggi dalam spektrum cacat tabung saraf (neural tube defect) akibat gangguan penutupan tulang belakang janin pada bulan pertama kehamilan.
Laporan kasus: Dilaporkan dua kasus SB pada bayi laki-laki berusia dua hari dan tiga hari yang lahir prematur. Pada kedua pasien ditemukan massa di area lumbosakral disertai rembesan cairan serebrospinal (cerebro spinal fluid) serta kelainan kongenital multipel antara lain berupa congenital talipes equinovarus (CTEV) bilateral, hipospadia dan atresia ani. Kedua pasien menjalani pemeriksaan darah, ekokardiografi, CT scan tanpa kontras dan babygram. Hasil pemeriksaan darah menunjukkan peningkatan prothrombine time, thromboplastine time dan kalium. Hasil CT scan menunjukkan ventriculomegali dan edema otak. Echocardiography menunjukkan adanya PDA. Pasien menjalani kolostomi, repair spina bifida dan pemasangan ventriculoperitoneal (VP) shunt.
Pembahasan: SB sering disertai dengan kelainan kongenital lain yang berasal dari lapisan neuroektoderm saat embriogenesis. Segera setelah bayi lahir perlu dilakukan pemeriksaan dan manajemen secara komprehensif dari tim multidisiplin terkait adanya bagian neural placode yang terbuka untuk mengetahui lokasi, ukuran, apakah ada kebocoran cairan serebrospinal serta kelainan kongenital lain yang menyertai.
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Fremion, Ellen, David Kanter, and Margaret Turk. "Health promotion and preventive health care service guidelines for the care of people with spina bifida." Journal of Pediatric Rehabilitation Medicine 13, no. 4 (December 22, 2020): 513–23. http://dx.doi.org/10.3233/prm-200718.
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Individuals with Spina Bifida (SB) have unique lifelong medical and social needs. Thus, when considering how to promote health and offer preventive care, providers must adapt general healthcare screening and counseling recommendations to their patients’ physical and cognitive impairments along with discerning how to monitor secondary or chronic conditions common to the population. This article provides an update on the health promotion and preventive health care guidelines developed as part of the Spina Bifida Association’s fourth edition of the Guidelines for the Care of People with Spina Bifida. The guidelines highlight accommodations needed to promote general preventive health, common secondary/chronic conditions such as obesity, metabolic syndrome, hypertension, musculoskeletal pain, and considerations for preventing acute care utilization for the SB population throughout the lifespan. Further research is needed to understand the effectiveness of preventive care interventions in promoting positive health outcomes and mitigating potentially preventable acute care utilization.
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Taylor, Heather B., Marcia A. Barnes, Susan H. Landry, Paul Swank, Jack M. Fletcher, and Furong Huang. "Motor Contingency Learning and Infants with Spina Bifida." Journal of the International Neuropsychological Society 19, no. 2 (January 8, 2013): 206–15. http://dx.doi.org/10.1017/s1355617712001233.
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AbstractInfants with Spina Bifida (SB) were compared to typically developing infants (TD) using a conjugate reinforcement paradigm at 6 months-of-age (n= 98) to evaluate learning, and retention of a sensory-motor contingency. Analyses evaluated infant arm-waving rates at baseline (wrist not tethered to mobile), during acquisition of the sensory-motor contingency (wrist tethered), and immediately after the acquisition phase and then after a delay (wrist not tethered), controlling for arm reaching ability, gestational age, and socioeconomic status. Although both groups responded to the contingency with increased arm-waving from baseline to acquisition, 15% to 29% fewer infants with SB than TD were found to learn the contingency depending on the criterion used to determine contingency learning. In addition, infants with SB who had learned the contingency had more difficulty retaining the contingency over time when sensory feedback was absent. The findings suggest that infants with SB do not learn motor contingencies as easily or at the same rate as TD infants, and are more likely to decrease motor responses when sensory feedback is absent. Results are discussed with reference to research on contingency learning in infants with and without neurodevelopmental disorders, and with reference to motor learning in school-age children with SB. (JINS, 2013,19, 1–10)
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Trinh, Anne, Phillip Wong, Anuradha Sakthivel, Michael C. Fahey, Sabine Hennel, Justin Brown, Boyd J. Strauss, Peter R. Ebeling, Peter J. Fuller, and Frances Milat. "Fat–Bone Interactions in Adults With Spina Bifida." Journal of the Endocrine Society 1, no. 10 (September 27, 2017): 1301–11. http://dx.doi.org/10.1210/js.2017-00258.
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Abstract Context Spina bifida (SB) can lead to changes in body composition and bone mineral density (BMD) through diminished ambulation, renal impairment, and anticonvulsant medication. With increased life expectancy, diseases such as obesity and osteoporosis are emerging comorbidities in SB, with limited data to guide management. Objective To examine the relationship between cardiometabolic factors, body composition, BMD, and minimal trauma fractures (MTFs) in adults with SB. Design Retrospective cross-sectional study. Setting and Participants Forty-nine adults with SB (median age, 32.7 years; interquartile range, 22.6 to 39.0) who had undergone dual-energy x-ray absorptiometry imaging at a single tertiary hospital from 2004 to 2015. Results The mean body mass index was 31.7 ± 7.5 kg/m2; 26 (53.1%) were obese. Using age- and sex-matched fat percentiles from the National Health and Nutrition Examination Survey III, 62.5% had a total body percentage fat greater than the 95th percentile. Low bone mass (defined as a Z-score of ≤−2.0) was present in 21.9% at the L1 vertebra and in 35.1% at the femoral neck. Ten (20.4%) had a history of MTFs. A BMD or Z-score at L1, femoral neck, or total body site did not correlate with the occurrence of MTF. Fat mass was significantly and positively associated with BMD after adjustment for age, sex, and height and accounted for 18.6% of the variance in BMD (P = 0.005). The prevalence of metabolic comorbidities, such as hypertension (20.4%) and obstructive sleep apnea (16.3%), was high. Conclusions Obesity and low BMD are common in young adults with SB. An increased fat mass correlated significantly with BMD. The prevalence of metabolic complications in patients with SB is increased and deserves further study.
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Tian, Tian, Xuanye Cao, Sung-Eun Kim, Ying Linda Lin, John W. Steele, Robert M. Cabrera, Menuka Karki, et al. "FKBP8 variants are risk factors for spina bifida." Human Molecular Genetics 29, no. 18 (September 15, 2020): 3132–44. http://dx.doi.org/10.1093/hmg/ddaa211.
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Abstract Neural tube defects (NTDs) are a group of severe congenital malformations caused by a failure of neural tube closure during early embryonic development. Although extensively investigated, the genetic etiology of NTDs remains poorly understood. FKBP8 is critical for proper mammalian neural tube closure. Fkbp8−/− mouse embryos showed posterior NTDs consistent with a diagnosis of spina bifida (SB). To date, no publication has reported any association between FKBP8 and human NTDs. Using Sanger sequencing on genomic DNA samples from 472 SB and 565 control samples, we identified five rare (MAF ≤ 0.001) deleterious variants in SB patients, while no rare deleterious variant was identified in the controls (P = 0.0191). p.Glu140* affected FKBP8 localization to the mitochondria and created a truncated form of the FKBP8 protein, thus impairing its interaction with BCL2 and ultimately leading to an increase in cellular apoptosis. p.Ser3Leu, p.Lys315Asn and p.Ala292Ser variants decreased FKBP8 protein level. p.Lys315Asn further increased the cellular apoptosis. RNA sequencing on anterior and posterior tissues isolated from Fkbp8−/− and wildtype mice at E9.5 and E10.5 showed that Fkbp8−/− embryos have an abnormal expression profile within tissues harvested at posterior sites, thus leading to a posterior NTD. Moreover, we found that Fkbp8 knockout mouse embryos have abnormal expression of Wnt3a and Nkx2.9 during the early stage of neural tube development, perhaps also contributing to caudal specific NTDs. These findings provide evidence that functional variants of FKBP8 are risk factors for SB, which may involve a novel mechanism by which Fkbp8 mutations specifically cause SB in mice.
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Sarno, Laura, Gabriele Saccone, Marco Di Cresce, Pasquale Martinelli, and Giuseppe Maria Maruotti. "Spina Bifida—Ultrasonographic Diagnosis in First and Second Trimesters." Donald School Journal of Ultrasound in Obstetrics and Gynecology 11, no. 4 (2017): 341–46. http://dx.doi.org/10.5005/jp-journals-10009-1541.
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ABSTRACT Accurate and timely prenatal diagnosis of spina bifida (SB) is a major challenge of actual antenatal care. The diagnosis of spina bifida may be only suspected during I trimester because the detection rate of intracranial traslucency is 50%; the final diagnosis is made in the II trimester by direct visualization of defect of spine or the presence of myelomeningocele or the visualization of indirect signs. When a spine defect is detected it is necessary a neurosurgical counseling with the patient .The degree of handicap and the survival rate depend on the level of injury, the size of the defect, and the presence of associated anomalies. In tertiary fetal medicine centers, two-dimensional (2D) and three-dimensional (3D) ultrasound allows an accurate determination of the location, type, extention of the defect. Maternal—fetal surgery for myelomeningocele repair must be offered to carefully selected patients even if there are significant maternal implications and complications How to cite this article Sarno L, Saccone G, Di Cresce M, Martinelli P, Maruotti GM. Spina Bifida—Ultrasonographic Diagnosis in First and Second Trimesters. Donald School J Ultrasound Obstet Gynecol 2017;11(4):341-346.
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Mann, Lovepreet K., Jong Hak Won, Rajan Patel, Eric P. Bergh, Jeannine Garnett, Meenakshi B. Bhattacharjee, Ponnada A. Narayana, et al. "Allografts for Skin Closure during In Utero Spina Bifida Repair in a Sheep Model." Journal of Clinical Medicine 10, no. 21 (October 25, 2021): 4928. http://dx.doi.org/10.3390/jcm10214928.
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Objectives: Use of off-label tissue graft materials, such as acellular dermal matrix (ADM), for in utero repair of severe spina bifida (SB), where primary skin layer closure is not possible, is associated with poor neurological outcomes. The cryopreserved human umbilical cord (HUC) patch has regenerative, anti-inflammatory, and anti-scarring properties, and provides watertight SB repair. We tested the hypothesis that the HUC is a superior skin patch to ADM for reducing inflammation at the repair site and preserving spinal cord function. Methods: In timed-pregnant ewes with twins, on gestational day (GD) 75, spina bifida was created without a myelotomy (functional model). On GD 95, repair was performed using HUC vs. ADM patches (randomly assigned) by suturing them to the skin edges. Additionally, full thickness skin closure as a primary skin closure (PSC) served as a positive control. Delivery was performed on GD 140, followed by blinded to treatment neurological assessments of the lambs using the Texas Spinal Cord Injury Scale (TSCIS) for gait, proprioception, and nociception. Lambs without spina bifida were used as controls (CTL). Ex vivo magnetic resonance imaging of spines at the repair site were performed, followed by quantitative pathological assessments. Histological assessments (blinded) included Masson’s trichrome, and immunofluorescence for myeloperoxidase (MPO; neutrophils) and for reactive astrocytes (inflammation) by co-staining vimentin and GFAP. Results: The combined hind limbs’ TSCIS was significantly higher in the HUC group than in ADM and PSC groups, p = 0.007. Both ADM and PSC groups exhibited loss of proprioception and mild to moderate ataxia compared to controls. MRI showed increased pathological findings in the PSC group when compared to the HUC group, p = 0.045. Histologically, the meningeal layer was thickened (inflammation) by 2–3 fold in ADM and PSC groups when compared to HUC and CTL groups, p = 0.01. There was lower MPO positive cells in the HUC group than in the ADM group, p = 0.018. Posterior column astrocyte activation was increased in ADM and PSC lambs compared to HUC lambs, p = 0.03. Conclusion: The HUC as a skin patch for in utero spina bifida repair preserves spinal cord function by reducing underlying inflammation when compared to ADM.
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Haapala, Heidi J., Mary Schmidt, Paul Lin, Neil Kamdar, Elham Mahmoudi, and Mark D. Peterson. "Musculoskeletal Morbidity Among Adults Living With Spina Bifida and Cerebral Palsy." Topics in Spinal Cord Injury Rehabilitation 28, no. 3 (June 1, 2022): 73–84. http://dx.doi.org/10.46292/sci21-00078.
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Background: Individuals living with cerebral palsy (CP) or spina bifida (SB) are at heightened risk for chronic health conditions that may develop or be influenced by the impairment and/or the process of aging. Objectives: The objective of this study was to compare the incidence of and adjusted hazards for musculoskeletal (MSK) morbidities among adults living with and without CP or SB. Methods: A retrospective, longitudinal cohort study was conducted among adults living with (n = 15,302) CP or SB and without (n = 1,935,480) CP or SB. Incidence estimates of common MSK morbidities were compared at 4 years of enrollment. Survival models were used to quantify unadjusted and adjusted hazard ratios for incident MSK morbidities. The analyses were performed in 2019 to 2020. Results: Adults living with CP or SB had a higher 4-year incidence of any MSK morbidity (55.3% vs. 39.0%) as compared to adults without CP or SB, and differences were to a clinically meaningful extent. Fully adjusted survival models demonstrated that adults with CP or SB had a greater hazard for all MSK disorders; this ranged from hazard ratio (HR) 1.40 (95% CI, 1.33 to 1.48) for myalgia to HR 3.23 (95% CI, 3.09 to 3.38) for sarcopenia and weakness. Conclusion: Adults with CP or SB have a significantly higher incidence of and risk for common MSK morbidities as compared to adults without CP or SB. Efforts are needed to facilitate the development of improved clinical screening algorithms and early interventions to reduce risk of MSK disease onset/progression in these higher risk populations.
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Bıkmazer, Alperen, Esra Giray, Ayşe Rodopman Arman, İbrahim Gökçe, and Evrim Karadağ Saygı. "Psychosocial problems and cognitive functions in children with spina bifida." Turkish Journal of Physical Medicine and Rehabilitation 68, no. 1 (March 1, 2022): 37–45. http://dx.doi.org/10.5606/tftrd.2022.6658.
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Objectives: This study aims to assess psychosocial functioning in relation to lesion level and ambulatory status in children with spina bifida (SB) and compare them to their peers. Patients and methods: Between March 2013 and May 2013, a total of 31 patients with SB (11 males, 20 females; mean age: 9.4 years; range, 6 to 14.7 years) and 36 typically developing peers (16 males, 20 females; mean age: 9.8 years; range, 6.5 to 14.8 years) were included in the study. All participants were assessed using a semi-structured psychiatric diagnostic interview via the Kiddie Schedule for Affective Disorders and Schizophrenia Present and Lifetime Version (K-SADS-PL), Wechsler Intelligence Scale for Children-Revised (WISC-R), Behavioral Rating Inventory of Executive Functions (BRIEF) parent form, Social Responsiveness Scale (SRS), and Aberrant Behavior Checklist (ABC). Results: In the SB group, the rate of psychiatric disorders was significantly higher (p=0.001) and the SRS scores and the planning and organizational components of the executive function were higher than their peers (p=0.02 and p=0.007, respectively). The psychiatric diagnosis rate, BRIEF, and SRS total scores did not significantly differ according to lesion level and ambulatory status. The BRIEF initiate and organization of materials subtest scores and ABC scores were significantly lower at high lesion levels (p=0.02, p=0.02, and p=0.02, respectively) and non-community walkers (p=0.002, p=0.03, and p=0.003, respectively). Conclusion: Psychiatric disorders, impairment in social responsiveness, and planning and organization components of the executive function are prevalent in children with SB with no intellectual disabilities, compared to their peers. Therefore, psychosocial counseling and multidisciplinary follow-up for SB patients seem to be beneficial.
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Cruz-Martínez, Rogelio, Felipe Chavelas-Ochoa, Miguel Martínez-Rodríguez, Karla Aguilar-Vidales, Alma Gámez-Varela, Jonahtan Luna-García, Hugo López-Briones, et al. "Open Fetal Microneurosurgery for Intrauterine Spina Bifida Repair." Fetal Diagnosis and Therapy 48, no. 3 (2021): 163–73. http://dx.doi.org/10.1159/000513311.
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<b><i>Objectives:</i></b> The aim of the study was to describe the feasibility of open fetal microneurosurgery for intrauterine spina bifida (SB) repair and to compare perinatal outcomes with cases managed using the classic open fetal surgery technique. <b><i>Methods:</i></b> In this study, we selected a cohort of consecutive fetuses with isolated open SB referred to our fetal surgery center in Queretaro, Mexico, during a 3.5-year period (2016–2020). SB repair was performed by either classic open surgery (6- to 8-cm hysterotomy with leakage of amniotic fluid, which was replaced before uterine closure) or open microneurosurgery, which is a novel technique characterized by a 15- to 20-mm hysterotomy diameter, reduced fetal manipulation by fixing the fetal back, and maintenance of normal amniotic fluid and uterine volume during the whole surgery. Perinatal outcomes of cases operated with the classic open fetal surgery technique and open microneurosurgery were compared. <b><i>Results:</i></b> Intrauterine SB repair with a complete 3-layer correction was successfully performed in 60 cases either by classic open fetal surgery (<i>n</i> = 13) or open microneurosurgery (<i>n</i> = 47). No significant differences were observed in gestational age (GA) at fetal intervention (25.4 vs. 25.1 weeks, <i>p</i> = 0.38) or surgical times (107 vs. 120 min, <i>p</i> = 0.15) between both groups. The group with open microneurosurgery showed a significantly lower rate of oligohydramnios (0 vs. 15.4%, <i>p</i> = 0.01), preterm rupture of the membranes (19.0 vs. 53.8%, <i>p</i> = 0.01), higher GA at birth (35.1 vs. 32.7 weeks, <i>p</i> = 0.03), lower rate of preterm delivery <34 weeks (21.4 vs. 61.5%, <i>p</i> = 0.01), and lower rate of perinatal death (4.8 vs. 23.1%, <i>p</i> = 0.04) than the group with classic open surgery. During infant follow-up, the rate of hydrocephalus requiring ventriculoperitoneal shunting was similar between both groups (7.5 vs. 20%, <i>p</i> = 0.24). All patients showed an intact hysterotomy site at delivery. <b><i>Conclusion:</i></b> Intrauterine spina repair by open fetal microneurosurgery is feasible and was associated with better perinatal outcomes than classic open fetal surgery.
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Hampton, Lyla E., Jack M. Fletcher, Paul T. Cirino, Susan Blaser, Larry A. Kramer, James Drake, and Maureen Dennis. "Hydrocephalus status in spina bifida: an evaluation of variations in neuropsychological outcomes." Journal of Neurosurgery: Pediatrics 8, no. 3 (September 2011): 289–98. http://dx.doi.org/10.3171/2011.6.peds10584.
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Object The effect of hydrocephalus status on neuropsychological outcomes in children with spina bifida (SB) has not been carefully evaluated. The authors hypothesized a stepwise progression of outcomes related to hydrocephalus status (shunt-treated, arrested, or no hydrocephalus) and that motor, spatial, and executive function tasks would be more sensitive to hydrocephalus status than vocabulary and reading tasks. Methods Two hundred eight children (mean age 11.2 years) with SB were grouped according to hydrocephalus status: shunt-treated hydrocephalus (166 children), arrested hydrocephalus (18 children), and no hydrocephalus (24 children). Sixty-one typically developing children were included as a control group (mean age 12.05 years). All children were tested across neuropsychological content domains, including verbal and nonverbal IQ, reading and mathematical achievement, explicit memory, visuospatial function, executive function, and motor skills. Results There was a stepwise progression of outcomes. Averaging across tasks, performance scores of children with SB and no hydrocephalus (mean standard score 92.60) were higher than those of children with SB and arrested hydrocephalus (mean standard score 86.86), and scores of children in the latter group were higher than those of children with SB and shunt-treated hydrocephalus (mean standard score 82.30). All 3 groups scored lower than the control group (mean standard score 105.94). Fine motor tasks best differentiated the arrested-hydrocephalus and shunt-treated groups. Verbal and executive function tasks, often associated with socioeconomic status, best differentiated the group of children with SB and no hydrocephalus from the control group. Conclusions With the exception of fine motor skills and small differences in memory and spatial domains, children with SB and arrested or shunt-treated hydrocephalus have similar neuropsychological profiles. Performance of all 3 groups of children with SB was below that of the control group, which also reflects the lower socioeconomic status of the children with SB.
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Dunleavy, Mary Jo. "The Role of the Nurse Coordinator in Spina Bifida Clinics." Scientific World JOURNAL 7 (2007): 1884–89. http://dx.doi.org/10.1100/tsw.2007.305.
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There are numerous multidisciplinary spina bifida (SB) clinics (typically including urology, orthopedics, neurosurgery, developmental pediatrics, physiatry, nursing, social work, and physical and occupational therapy) throughout the U.S. Many SB clinics have a nurse coordinator. The coordinator's role is truly multifaceted. It goes far beyond coordinating the clinic visit in which patients and families are seen for care. The frequency of clinical visits varies from program to program, from a few hours once a month to a full day every week. This role encompasses many aspects of care for this complex patient population, which will be described.
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Smith, Zoe R., and Grayson N. Holmbeck. "Factor Structure of Medical Autonomy Scales in Young People with Spina Bifida." Journal of Pediatric Psychology 46, no. 6 (March 4, 2021): 698–709. http://dx.doi.org/10.1093/jpepsy/jsab013.
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Abstract Objective The primary goal of this study was to examine the factor structure of a spina bifida (SB) medical responsibilities measure and a medical regimen skills scale across time in families of youth with SB. Method One-hundred and forty youth with SB and their parents were assessed in both childhood/adolescence and adolescence/young adulthood. The Sharing of SB Medical Responsibilities Scale (SOSBMR) includes 34 items for which participants indicate who is responsible for each task. The SB Independence Survey (SBIS) is composed of 50 SB-specific medical skills items in yes-no format. Confirmatory factor analyses (CFA) were conducted to examine the factor structure of the SOSBMR and SBIS in childhood and adolescence (ages 8–15) and in adolescence/young adulthood (AYA; ages 16–25). Results One- and seven-factor CFAs were compared for both measures. For the SBIS, both mother- and father-report were used in childhood; self-report was employed for AYA. For the SOSBMR, only self-report was used for both age groups. Across each rater and time point, the seven-factor models of the SBIS and SOSBMR had adequate to excellent fit and reliability, indicating the ability to use each subscale. In addition, each of the corresponding subscales on the SOSBMR and SBIS were associated with each other across raters and time, showing good concurrent and predictive validity. Conclusions From childhood to young adulthood, the subscales of the SOSBMR can be used to examine responsibility across multiple medical tasks and the SBIS can be used to assess medical regimen skills and mastery in young people with SB.
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Hasan, Khader M., Ambika Sankar, Christopher Halphen, Larry A. Kramer, Linda Ewing-Cobbs, Maureen Dennis, and Jack M. Fletcher. "Quantitative diffusion tensor imaging and intellectual outcomes in spina bifida." Journal of Neurosurgery: Pediatrics 2, no. 1 (July 2008): 75–82. http://dx.doi.org/10.3171/ped/2008/2/7/075.
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Object Patients with spina bifida (SB) have variable intellectual outcomes. The authors used diffusion tensor (DT) imaging to quantify whole-brain volumes of gray matter, white matter, and cerebrospinal fluid (CSF), and perform regional quantitative microstructural assessments of gray matter nuclei and white matter tracts in relation to intellectual outcomes in patients with SB. Methods Twenty-nine children with myelomeningoceles and 20 age- and sex-matched children with normal neural tube development underwent MR imaging with DT image acquisition and assessments of intelligence. The DT imaging–derived metrics were the fractional anisotropy (FA), axial (parallel), and transverse (perpendicular) diffusivities. These metrics were also used to segment the brain into white matter, gray matter, and CSF. A region-of-interest analysis was conducted of the white and gray matter structures implicated in hydrocephalus. Results The amount of whole-brain gray matter was decreased in patients with SB, with a corresponding increase in CSF (p < 0.0001). Regional transverse diffusivity in the caudate nucleus was decreased (p < 0.0001), and the corresponding FA was increased (p < 0.0001), suggesting reduced dendritic branching and connectivity. Fractional anisotropy in the posterior limb of the internal capsule increased in the myelomeningocele group (p = 0.02), suggesting elimination of some divergent fascicles; in contrast, the FA in several white matter structures (such as the corpus callosum genu [p < 0.001] and arcuate fasciculus) was reduced, suggesting disruption of myelination. Diffusion tensor imaging–metrics involving gray matter volume and the caudate nucleus, but not other structures, predicted variations in IQ (r = 0.37–0.50; p < 0.05). Conclusions Diffusion tensor imaging–derived metrics provide noninvasive neuronal surrogate markers of the pathogenesis of SB and predict variations in general intellectual outcomes in children with this condition.
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Schroeder, A., M. Joeckel, F. van Nooten, M. Lindemann, D. Lambrelli, D. Eriksson, M. Raluy, R. Wasiak, and R. Stein. "PND25 Burden of Spina Bifida (SB) in Germany - the Characteristics of SB Population." Value in Health 15, no. 7 (November 2012): A550. http://dx.doi.org/10.1016/j.jval.2012.08.1949.
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Motta, Guilherme Lang, Anna Bujons, Yesica Quiróz, Erika Llorens, Maira Zancan, and Tiago Elias Rosito. "Sexuality of Female Spina Bifida Patients: Predictors of a Satisfactory Sexual Function." Revista Brasileira de Ginecologia e Obstetrícia / RBGO Gynecology and Obstetrics 43, no. 06 (June 2021): 467–73. http://dx.doi.org/10.1055/s-0041-1732464.
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Abstract Objective To assess the sexual function of women with spina bifida (SB), and to verify the factors that influence their sexual function. Methods A cross-sectional study in which a validated female-specific questionnaire was applied to 140 SB female patients from four different cities (Porto Alegre, Brazil; and Barcelona, Madrid, and Málaga, Spain) between 2019 and 2020. The questionnaires collected data on the clinical characteristics of SB, and female sexual function was assessed using the 6-item version of the Female Sexual Function Index (FSFI-6) validated to Portuguese and Spanish. Results Half of the patients had had sexual activity at least once in the life, but most (57.1%) did not use any contraception method. Sexual dysfunction was present in most (84.3%) patients, and all sexual function domains were impaired compared those of non-neurogenic women. The presence of urinary and fecal incontinence significantly affected the quality of their sexual activity based on the FSFI-6. Conclusion The specific clinical aspects of the SB patients, such as urinary and fecal incontinence, should be properly addressed by their doctors, since they are associated with reduced sexual activity and lower FSFI-6 scores in the overall or specific domains. There is also a need to improve gynecological care among sexually-active SB patients, since most do not use any contraceptive methods and are at risk of inadvertent pregnancy.
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Fairman, Andrea D., Erika T. Yih, Daniel F. McCoy, Edmund F. LoPresti, Michael P. McCue, Bambang Parmanto, and Brad E. Dicianno. "Iterative Design and Usability Testing of the iMHere System for Managing Chronic Conditions and Disability." International Journal of Telerehabilitation 8, no. 1 (July 1, 2016): 11–20. http://dx.doi.org/10.5195/ijt.2016.6194.
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A novel mobile health platform, Interactive Mobile Health and Rehabilitation (iMHere), is being developed to support wellness and self-management among people with chronic disabilities. The iMHere system currently includes a smartphone app with six modules for use by persons with disabilities and a web portal for use by medical and rehabilitation professionals or other support personnel. Our initial clinical research applying use of this system provides insight into the feasibility of employing iMHere in the development of self-management skills in young adults (ages 18-40 years) with spina bifida (Dicianno, Fairman, McCue, Parmanto, Yih, et al., 2015). This article is focused on describing the iterative design of the iMHere system including usability testing of both the app modules and clinician portal. Our pilot population of persons with spina bifida fostered the creation of a system appropriate for people with a wide variety of functional abilities and needs. As a result, the system is appropriate for use by persons with various disabilities and chronic conditions, not only spina bifida. In addition, the diversity of professionals and support personnel involved in the care of persons with spina bifida (SB) also enabled the design and implementation of the iMHere system to meet the needs of an interdisciplinary team of providers who treat various conditions. The iMHere system has the potential to foster communication and collaboration among members of an interdisciplinary healthcare team, including individuals with chronic conditions and disabilities, for client-centered approach to support self-management skills.
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Hopson, Betsy, Elizabeth N. Alford, Kathrin Zimmerman, Jeffrey P. Blount, and Brandon G. Rocque. "Development of an evidence-based individualized transition plan for spina bifida." Neurosurgical Focus 47, no. 4 (October 2019): E17. http://dx.doi.org/10.3171/2019.7.focus19425.
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OBJECTIVEIn spina bifida (SB), transition of care from the pediatric to adult healthcare settings remains an opportunity for improvement. Transition of care is necessarily multidimensional and focuses on increasing independence, autonomy, and personal responsibility for health-related tasks. While prior research has demonstrated that effective transition can improve health outcomes and quality of life while reducing healthcare utilization, little is known about the most advantageous transition program components/design. The individualized transition plan (ITP) was developed to optimize the readiness of the adolescent with SB for adult healthcare. The ITP is a set of clearly articulated, mutually developed goals that arise from best available data on successful transition and are individualized to meet the individual challenges, needs, and attributes of each patient and family.METHODSProspectively completed ITPs were retrospectively reviewed from June 2018 to May 2019. Demographic and disease characteristics were collected, and specific goals were reviewed and categorized.RESULTSThirty-two patients with an ITP were included. The cohort was 50% male and had a mean age of 16.4 years. For goal 1 (maximize education), the most common goal was to complete a career interest survey (44%), followed by researching application/admission requirements for programs of interest (25%), shadowing in and/or visiting a workplace (16%), and improving high school performance (16%). For goal 2 (bowel management), most patients (59%) had a working bowel program with few or no bowel accidents. Eight patients (25%) were having more than the desired number of bowel accidents and received formal consultation with a gastroenterologist. Five patients (16%) needed only minor adjustments to their bowel management regimen. Goal 3 (SB program coordinator goal) focused on documenting medical and/or surgical history for the majority of patients (66%). Other goals aimed to increase patient communication in healthcare settings or utilize available community resources.CONCLUSIONSThe authors developed an evidence-based ITP that focuses around 5 goals: maximizing education, bowel continence, and goals set by the SB clinic coordinator, parent/caregiver, and patient. Although developed for the authors’ SB clinic, the ITP concept is applicable to transition of care in any chronic childhood illness.
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Alriksson-Schmidt, Ann I., Katherine Ong, Matthew R. Reeder, Judy K. Thibadeau, and Marcia L. Feldkamp. "Site, frequency, and duration of pain in young children with spina bifida." Journal of Pediatric Rehabilitation Medicine 14, no. 4 (December 23, 2021): 571–82. http://dx.doi.org/10.3233/prm-190661.
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PURPOSE: To investigate the: (1) percent of children with spina bifida (SB) complaining of pain, (2) frequency, duration, and cause of pain by sex, level of lesion type of SB, and ambulation status, (3) body sites reported to hurt, by variables in objective 2, and (4) associations between physical and mental/emotional health between caregiver and child. METHODS: Cross-sectional study of 101 caregivers of children (3 to 6 years old) with SB. Survey data and information from medical records were included. Pearson chi-square, one-way ANOVA, Fisher’s exact test, logistic regressions, and bivariate correlations were used. RESULTS: Seventy percent reported that their child complained of pain, which did not significantly differ by sex, level of lesion, type of SB, or ambulation status. Most (86%) were reported to have experienced pain for less than 24 hours. The most frequently reported pain site was the head, followed by the abdomen and the lower body. Number of pain sites was moderately correlated with frequency of pain complaints. Correlations between how caregivers reported their own physical/mental/emotional health and how they rated that of their children ranged from weak (r = 0.22) to moderate (r = 0.55). CONCLUSION: Almost seven of ten children reportedly complained of pain ranging from at least once a month to everyday. Pain needs to be routinely assessed and treated in this population.
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Winning, Adrien M., Colleen Stiles-Shields, Colleen F. Bechtel Driscoll, Diana M. Ohanian, Autumn N. Crowe, and Grayson N. Holmbeck. "Development of an Observational Parental Scaffolding Measure for Youth with Spina Bifida." Journal of Pediatric Psychology 45, no. 6 (June 22, 2020): 695–706. http://dx.doi.org/10.1093/jpepsy/jsaa042.
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Abstract Objective To examine the reliability and validity of a new observational measure of parental scaffolding, as well as the impact of parental scaffolding on academic and social outcomes among youth with spina bifida (SB). Methods As part of a larger study, 137 families of youth with SB participated in family interaction tasks and self-report questionnaires at the baseline assessment. Teachers also reported on youth’s academic independence and competence, as well as social skills. Guided by previous research and theoretical formulations, a rational approach to measure development was employed whereby maternal and paternal scaffolding composites were created using the Family Interaction Macro-coding System (Holmbeck, Zebracki, Johnson, Belvedere, & Hommeyer (2007). Parent-child interaction macro-coding manual. Unpublished coding system. Chicago: Loyola University Chicago). Results The scaffolding measure demonstrated acceptable interrater and scale reliabilities. Additionally, both the maternal and paternal scaffolding composites were significantly associated with scores from self-report questionnaires of parenting behaviors in the expected directions. Maternal scaffolding was positively associated with IQ, academic competence, academic independence, and social self-control in youth with SB, whereas paternal scaffolding was positively associated with social cooperation and social self-control. Differences in scaffolding emerged between mothers and fathers, as well as across demographic variables. Conclusion Initial findings support the use of the scaffolding measure. Future research should continue to examine the utility of this scaffolding measure in families of youth with SB.
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Bakanienė, Indrė, and Audronė Prasauskienė. "Clinical and Environmental Predictors of Health-Related Quality of Life in Lithuanian Children and Adolescents with Spina Bifida: A Cross-Sectional Analysis of a Nationally Represented Sample." Medicina 54, no. 4 (August 28, 2018): 59. http://dx.doi.org/10.3390/medicina54040059.
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Background and objectives: In pediatric chronic health conditions, health-related quality of life (HRQOL) is a useful indicator of health, development, and well-being. The purpose of the study was to assess the effect of clinical and environmental factors on the HRQOL of children and adolescents with spina bifida (SB). Materials and methods: A cross-sectional study of the sample of 99 children and adolescents with SB aged 5 to 17 years. The questionnaires used in the study were the Spina Bifida Health-Related Quality of Life instrument (HRQOL-SB), and the Participation and Environment Measure for Children and Youth. Medical data were obtained from the medical records and the clinical examination. Results: A multivariate linear regression revealed that the most potent predictors of the HRQOL in children with SB were the community overall environmental supports (β = 0.504; p = 0.0001), a number of health conditions (β = −0.395; p = 0.0001), access to personal transportation (β = 0.236; p = 0.023), and supplies (β = 0.181; p = 0.031), explaining 80.3% of the variance in the SB-HRQOL scores. The most significant predictors of the HRQOL in adolescents were a number of health conditions (β = −0.387; p = 0.0001), cognitive demands of activities at home (β = 0.345; p = 0.0001), supplies (β = 0.267; p = 0.0001), money (β = 0.303; p = 0.0001), physical layout at school (β = 0.188; p = 0.008), and access to public transportation (β = 0.206; p = 0.019), explaining 89.5% of the variance in the SB-HRQOL scores. Conclusions: Both clinical and environmental factors determined the HRQOL of children and adolescents with SB. Environmental supports and resources contributed to HRQOL more than medical problems, especially in adolescents. The number of associated medical problems, reflecting disease severity, was the more potent clinical predictor compared to an individual health problem.
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Kayle, Mariam, David I. Chu, Alexa Stern, Wei Pan, and Grayson N. Holmbeck. "Predictors of Distinct Trajectories of Medical Responsibility in Youth with Spina Bifida." Journal of Pediatric Psychology 45, no. 10 (September 8, 2020): 1153–65. http://dx.doi.org/10.1093/jpepsy/jsaa065.
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Abstract Objective To determine if there are distinct developmental trajectories of medical responsibility in youth with spina bifida (SB) across ages 8–17 years and to identify condition-related, parental, and family systems predictors of membership in these trajectory groups. Methods Participants were 140 youth with SB and their parents who participated in four waves of a longitudinal study across 6 years (ages 8–15 years at Time 1). Multi-method (questionnaires and observed family interactions) and multi-respondent assessments were conducted during home visits. Results Findings revealed that there were two distinct developmental trajectories that characterized this sample, with one being labeled “high increasing” (two thirds of the sample) and one labeled “low increasing” (one third of the sample). Most predictor variables were significantly associated with trajectory group membership, with the exception of ethnicity, SES, and measures of conflict. When all significant univariate predictors were included in the same model, only intelligence quotient (IQ), family stress, and gender were retained as significant. Conclusions Most youth exhibited relatively rapid increases in responsibility over the course of late childhood and adolescence, but there was a smaller portion of the sample that did not exhibit this type of developmental trajectory. The magnitude of the IQ effect on group differentiation appeared to attenuate the effects of most other predictors. It will be important for clinicians working with youth with SB to recognize that the transfer of medical responsibility from parent to child cannot be expected to unfold in the same manner for all families of youth with SB.
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Furuta, Akira, Yasuyuki Suzuki, Ryosuke Takahashi, Birte Petersen Jakobsen, Takahiro Kimura, Shin Egawa, and Naoki Yoshimura. "Effects of Transanal Irrigation on Gut Microbiota in Pediatric Patients with Spina Bifida." Journal of Clinical Medicine 10, no. 2 (January 10, 2021): 224. http://dx.doi.org/10.3390/jcm10020224.
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Recent studies using 16S rRNA-based microbiota profiling have demonstrated dysbiosis of gut microbiota in constipated patients. The aim of this study was to investigate the changes in gut microbiota after transanal irrigation (TAI) in patients with spina bifida (SB). A questionnaire on neurogenic bowel disfunction (NBD), Bristol scale, and gut microbiota using 16S rRNA sequencing were completed in 16 SB patients and 10 healthy controls aged 6–17 years. Then, 11 of 16 SB patients with moderate to severe NBD scores received TAI for 3 months. Changes in urine cultures were also examined before and after the TAI treatments. In addition, correlation of gut microbiota and Bristol scale was analyzed. Significantly decreased abundance in Faecalibacterium, Blautia and Roseburia, and significantly increased abundance in Bacteroides and Roseburia were observed in the SB patients compared with controls and after TAI, respectively. The abundance of Roseburia was significantly correlated positively with Bristol scale. Urinary tract infection tended to decrease from 82% to 55% after TAI (p = 0.082) despite persistent fecal incontinence. Butyrate-producing bacteria such as Roseburia play a regulatory role in the intestinal motility and host immune system, suggesting the effects of TAI on gut microbiota.
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Furuta, Akira, Yasuyuki Suzuki, Ryosuke Takahashi, Birte Petersen Jakobsen, Takahiro Kimura, Shin Egawa, and Naoki Yoshimura. "Effects of Transanal Irrigation on Gut Microbiota in Pediatric Patients with Spina Bifida." Journal of Clinical Medicine 10, no. 2 (January 10, 2021): 224. http://dx.doi.org/10.3390/jcm10020224.
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Recent studies using 16S rRNA-based microbiota profiling have demonstrated dysbiosis of gut microbiota in constipated patients. The aim of this study was to investigate the changes in gut microbiota after transanal irrigation (TAI) in patients with spina bifida (SB). A questionnaire on neurogenic bowel disfunction (NBD), Bristol scale, and gut microbiota using 16S rRNA sequencing were completed in 16 SB patients and 10 healthy controls aged 6–17 years. Then, 11 of 16 SB patients with moderate to severe NBD scores received TAI for 3 months. Changes in urine cultures were also examined before and after the TAI treatments. In addition, correlation of gut microbiota and Bristol scale was analyzed. Significantly decreased abundance in Faecalibacterium, Blautia and Roseburia, and significantly increased abundance in Bacteroides and Roseburia were observed in the SB patients compared with controls and after TAI, respectively. The abundance of Roseburia was significantly correlated positively with Bristol scale. Urinary tract infection tended to decrease from 82% to 55% after TAI (p = 0.082) despite persistent fecal incontinence. Butyrate-producing bacteria such as Roseburia play a regulatory role in the intestinal motility and host immune system, suggesting the effects of TAI on gut microbiota.
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Dicianno, Brad E., Hubert S. Swana, Rory A. Cooper, and Timothy J. Brei. "Innovations in Telemedicine Services in Spina Bifida Clinics in the U. S. During the Covid-19 Pandemic." Technology & Innovation 22, no. 2 (March 16, 2022): 157–64. http://dx.doi.org/10.21300/22.2.2021.4.
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The COVID-19 pandemic has dramatically impacted delivery of outpatient care. Many people with spina bifida (SB) in the U.S. receive outpatient healthcare in a multidisciplinary setting. In accordance with state healthcare mandates, outpatient multidisciplinary clinic visits were deferred, postponed, or canceled, while telemedicine systems were implemented. A survey was created and distributed to all known SB clinics in the U.S. We explored the impact of the COVID-19 pandemic on the delivery of outpatient care for the SB population and the use of telemedicine in response. Novel uses of telehealth, benefits of use, suggestions for overcoming barriers, and future opportunities are identified and discussed.
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Driscoll, Colleen F. Bechtel, Diana M. Ohanian, Monique M. Ridosh, Alexa Stern, Elicia C. Wartman, Meredith Starnes, and Grayson N. Holmbeck. "Pathways by which Maternal Factors are Associated With Youth Spina Bifida-Related Responsibility." Journal of Pediatric Psychology 45, no. 6 (April 26, 2020): 610–21. http://dx.doi.org/10.1093/jpepsy/jsaa020.
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Abstract Objective Achieving condition-related autonomy is an important developmental milestone for youth with spina bifida (SB). However, the transfer of condition-related responsibility to these youth can be delayed due to parent factors. This study aimed to investigate two potential pathways by which maternal factors may be associated with condition-related responsibility among youth with SB: (a) Maternal adjustment → perception of child vulnerability (PPCV) → youth condition-related responsibility; and (b) Maternal PPCV → overprotection → youth condition-related responsibility. Methods Participating youth with SB (N = 140; Mage=11.4 years, range = 8–15 years) were recruited as part of a longitudinal study; data from three time points (each spaced 2 years apart) from the larger study were used. Mothers reported on personal adjustment factors, PPCV, and overprotection. An observational measure of overprotection was also included. Mothers, fathers, and youth with SB reported on youths’ degree of responsibility for condition-related tasks. Analyses included age, lesion level, IQ, and the dependent variables at the prior wave as covariates. Results Bootstrapped mediation analyses revealed that PPCV significantly mediated the relationship between maternal distress and youth responsibility for medical tasks such that higher levels of distress at Time 1 predicted higher levels of PPCV at Time 2 and lower youth medical responsibility at Time 3. Furthermore, self-reported maternal overprotection significantly mediated the relationship between maternal PPCV and youth responsibility for medical tasks. Conclusions Maternal personal distress, PPCV, and self-reported overprotection are interrelated and affect youth’s condition-related responsibility. Interventions for mothers of youth with SB that target these factors may improve both maternal and youth outcomes.
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Kohleis, Katy, Markus Storck, Sibylle Geissler-preuss, Almut Hirsch, Florian Kuhn, Stefan Ortfeld, Marion Rapp, and Harald Bode. "Risikofaktoren für psychische Auffälligkeiten von Kindern und Jugendlichen mit Infantiler Zerebralparese und Spina bifida." Klinische Pädiatrie 231, no. 01 (September 4, 2018): 28–34. http://dx.doi.org/10.1055/a-0664-0832.
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Zusammenfassung Hintergrund Kinder und Jugendliche mit infantiler Zerebralparese (CP) und mit Spina bifida (SB) haben ein erhöhtes Risiko für psychische Auffälligkeiten. Ziel dieser Studie war es, im Vergleich beider Gruppen krankheitsspezifische und psychosoziale Risikofaktoren mit der qualitativen Ausprägung psychischer Auffälligkeiten zu korrelieren. Patienten In einer multizentrischen Querschnittstudie wurden 271 Patienten mit CP und 84 mit SB (Alter 3–17 Jahre) eingeschlossen. Methoden Die Eltern beantworteten die Strengths and Difficulties Questionnaire (SDQ), machten Angaben zum soziodemografischen Status und zur sozialen Teilhabe ihrer Kinder. Daten zum kognitiven, motorischen und sozialen Funktionsniveau der Patienten wurden aus den Akten bzw. durch die behandelnden Pädiater erhoben. Ergebnisse 30,2% der CP und 18,1% der SB Patienten zeigten einen auffälligen SDQ-Gesamtproblemwert (Norm 10,0%). Erhöhte Prävalenzen bestanden fort, wenn für den IQ als Kovariate kontrolliert wurde. In beiden Gruppen wurden Korrelationen zwischen externalisierenden Auffälligkeiten (Verhaltensprobleme, Hyperaktivität) und Schweregrad (IQ-Minderung; motorische Beeinträchtigung) gefunden. Emotionale Probleme korrelierten – unabhängig vom Schweregrad – mit der sozialen Teilhabe. In beiden Gruppen bestanden nur schwache Zusammenhänge mit Alter und Geschlecht. Bei Berücksichtigung des IQ als Kovariate bestanden keine Gruppenunterschiede in der psychischen Symptomatik zwischen CP und SB-Patienten. Schlussfolgerung Psychische Auffälligkeiten bei Kindern und Jugendlichen mit CP bzw. SB korrelieren mit verschiedenen Risikofaktoren (IQ, motorische Beeinträchtigung, Alter, Geschlecht, Teilhabe). Eine Verbesserung ihrer Früherkennung, der Teilhabe und psychotherapeutische Angebote sind erforderlich.
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Garver, Amanda E., Salini Mohanty, Brad E. Dicianno, and Renee M. Turchi. "Primary care providers need education and resources to provide optimal care for children and adults with spina bifida." Journal of Pediatric Rehabilitation Medicine 14, no. 4 (December 23, 2021): 681–89. http://dx.doi.org/10.3233/prm-210039.
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PURPOSE: The objective of this study was to describe the knowledge, attitudes, and practices related to caring for youth with SB within a statewide pediatric primary care medical home network. METHODS: Health care professionals who were members of the Pennsylvania Medical Home Program (PAMHP) statewide network were surveyed on sociological demographics, confidence in and knowledge of topics that impact the spina bifida (SB) population, education on SB, designating responsibility of care, tasks completed in the office, and transition from pediatric to adult care from October 2016 through November 2016. RESULTS: Among 67 respondents, 78%believed counseling families/caregivers about the impact of SB on everyday life was a shared responsibility between primary care physicians (PCP) and SB clinics. Eighty five percent of participants indicated they had exposure to SB through clinical courses or didactics in training but only 54%of participants felt knowledgeable on the impact of SB on everyday life. CONCLUSION: Findings suggest a need for increased educational efforts, improved awareness of SB, and access to evidence-based guidelines for PCPs to promote accessible and coordinated care to individuals with SB.
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HEFFELFINGER, AMY K., JENNIFER I. KOOP, PHILIP S. FASTENAU, TIMOTHY J. BREI, LISA CONANT, JENNIFER KATZENSTEIN, SUSAN E. CASHIN, and KATHLEEN J. SAWIN. "The relationship of neuropsychological functioning to adaptation outcome in adolescents with spina bifida." Journal of the International Neuropsychological Society 14, no. 5 (September 2008): 793–804. http://dx.doi.org/10.1017/s1355617708081022.
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Adolescents with spina bifida (SB) vary in their ability to adapt to the disease, and it is likely that numerous risk and protective factors affect adaptation outcomes. The primary aim was to test neuropsychological impairment, exemplified herein by executive dysfunction, as a risk factor in the Ecological Model of Adaptation for Adolescents with SB. Specific hypotheses were that: (1) executive functioning predicts the adaptation outcome of functional independence in adolescents with SB; (2) executive functioning mediates the impact of neurological severity on functional independence; and (3) family and adolescent protective factors are related to functional independence and moderate the relationship between executive functioning and functional independence. Forty-three adolescents aged 12–21 years completed neuropsychological measures and an interview that assessed risk, adolescent and family protective factors, and functional independence. Age, level of lesion, executive functioning, and the protective factor adolescent activities were significantly correlated with the functional independence outcome. In hierarchical regression analysis, the model accounted for 61% of the variance in functional independence outcomes. Executive functioning mediated the impact of neurological severity on functional independence. (JINS, 2008, 14, 793–804.)
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Dicianno, Brad E., Nienke Dosa, and Patricia Beierwaltes. "Preface to the special issue for the guidelines for the care of people with spina bifida." Journal of Pediatric Rehabilitation Medicine 13, no. 4 (December 22, 2020): 457–59. http://dx.doi.org/10.3233/prm-200691.
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“Guidelines for the Care of People with Spina Bifida” provide the best, most up-to-date recommendations for care across the lifespan, from newborn to adult. This special issue of the Journal of Pediatric Rehabilitation Medicine is a collection of key sections of the 2018 Guidelines. The sections of the Guidelines published herein have been expanded from their original format to include more background information about key topics and why they are important in the care of people with SB. It is the hope of SBA that these and future Guidelines will promote and standardize best practice regardless of the characteristics of individuals with SB or where their care was received. It is through providing better care that we will ultimately achieve a better future for all those living with SB.
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Simpson, Tess S., Leah A. Grande, Jessica J. Kenny, Pamela E. Wilson, and Robin L. Peterson. "Child, Parent, and Family Adjustment for Patients Followed in a Multidisciplinary Spina Bifida Clinic." Topics in Spinal Cord Injury Rehabilitation 28, no. 3 (June 1, 2022): 41–58. http://dx.doi.org/10.46292/sci21-00074.
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Objectives: To characterize child, parent, and family adjustment for patients followed in a multidisciplinary spina bifida (SB) clinic. Methods: Participants were drawn from clinical cases seen through a multidisciplinary outpatient SB clinic at a children’s hospital between 2017 and 2019. Participants included 209 youth under 19 years old who were diagnosed with SB and their parents. Self-reported internalizing symptoms were measured in youth in grade 3 through 12 using the 25-item Revised Children’s Anxiety and Depression Scale-25 (RCADS-25). Self- and parent-reported quality of life and family functioning were obtained using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales and Family Impact Modules. Results: A total of 45.7% of children and adolescents reported at-risk psychosocial functioning on the PedsQL. In contrast, only 5% of patients reported clinically elevated internalizing symptoms on the RCADS. Parents’ quality of life and family functioning in the study were higher than in most studies of parents of children with other chronic health conditions, children with attention deficit-hyperactivity disorder, and healthy control samples. Conclusion: Our findings indicate that children and adolescents with SB are at risk for poor health-related quality of life (HRQOL); however, poorer HRQOL may not necessarily be associated with more severe psychiatric symptoms in this population. Examining resilience factors that may help to buffer against challenges to HRQOL will be important in informing future interventions.
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Aguilera, Antonio M., David L. Wood, Cortney Keeley, Hector E. James, and Philipp R. Aldana. "Young adults with spina bifida transitioned to a medical home: a survey of medical care in Jacksonville, Florida." Journal of Neurosurgery: Pediatrics 17, no. 2 (February 2016): 203–7. http://dx.doi.org/10.3171/2015.7.peds14694.
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OBJECT The transition of the young adult with spina bifida (YASB) from pediatric to adult health care is considered a priority by organized pediatrics. There is a paucity of transition programs and related studies. Jacksonville Health and Transition Services (JaxHATS) is one such transition program in Jacksonville, Florida. This study’s purpose was to evaluate the health care access, utilization, and quality of life (QOL) of a group of YASBs who have transitioned from pediatric care. METHODS A survey tool addressing access to health care and quality of health and life was developed based on an established survey. Records of the Spinal Defects Clinic held at Wolfson Children’s Hospital and JaxHATS Clinic were reviewed and YASBs (> 18 and < 30 years old) were identified. RESULTS Ten of the 12 invited YASBs in the Jacksonville area completed the surveys. The mean age of respondents was 25.1 years. All reported regular medical home visits, 8 with JaxHATS and 2 with other family care groups. All reported easy access to medical care and routine visits to spina bifida (SB) specialists; none reported difficulty or delays in obtaining health care. Only 2 patients required emergent care in the last year for an SB-related medical problem. Seven respondents reported very good to excellent QOL. Family, lifestyle, and environmental factors were also examined. CONCLUSIONS In this small group of YASBs with a medical home, easy access to care for medical conditions was the norm, with few individuals having recent emergency visits and almost all reporting at least a good overall QOL. Larger studies of YASBs are needed to evaluate the positive effects of medical homes on health and QOL in this population.
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Saluja, Sandeep, Sneh Agarwal, Anita Tuli, Shashi Raheja, and Sarika Rachel Tigga. "Morphological Variations of Sacrum in Adult Indian Population." International Journal of Anatomy and Research 10, no. 1 (January 5, 2022): 8230–37. http://dx.doi.org/10.16965/ijar.2021.193.
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Introduction: The sacrum is considered as a highly variable bone. Several morphological variations have been documented which exhibit differences in the frequency of occurrence and morphological characteristics in various study populations. Variant anatomy of the sacrum may be associated with backache, enuresis, neurological anomalies of the lower limb and functional disorders of lower urinary tract. Purpose: The purpose of this study was to identify and describe morphological variations of sacrum in Indian population and enable comparison with different populations. Materials and Methods: The study was conducted on 108 dry adult human sacra and morphological characteristics and variations were noted. Results: Sacral skewness was observed in 7.4% sacra with right sided skewness being predominant. The presence of accessory auricular surface (AAS) was noted in 13% sacra which was at the level of S3 vertebra in most sacra. Spina bifida (SB) was observed in 11.1% sacra and it was most commonly located at S1 vertebral level. Furthermore, the lumbo-sacral transitional vertebra (TV) was documented in 10.2% sacra. Conclusions: Sacrum displays numerous variations in Indian population such as skewness, AAS, SB and TV. Thorough knowledge of morphological characteristics and variations of sacrum is vital and should be contemplated during diagnosis and treatment of sacrum-related diseases. KEY WORDS: Accessory auricular surface, Spina bifida, Transitional vertebra, Sacral skewness, Variations.