Browsing by Subject "Spina bifida"
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Item Age-based risk of end-stage kidney disease in patients with myelomeningocele(Elsevier, 2023-04) Adams, Cyrus M.; Misseri, Rosalia; Roth, Joshua D.; Whittam, Benjamin M.; Guckien, Zoe E.; King, Shelly J.; Kaefer, Martin; Rink, Richard C.; Szymanski, Konrad M.; Urology, School of MedicineObjective We aimed to quantify end-stage kidney disease (ESKD) risk after infancy in individuals with myelomeningocele (MMC) followed by urology in the modern medical era and to assess if ESKD risk was higher after surgery related to a hostile bladder. Methods We retrospectively reviewed patients with MMC followed by urology at our institution born ≥ 1972 (when clean intermittent catheterization was introduced) past 1 year of age (when mortality is highest, sometimes before establishing urology care). ESKD was defined as requiring permanent peritoneal/hemodialysis or renal transplantation. Early surgery related to hostile bladder included incontinent vesicostomy, bladder augmentation, detrusor Botulinum A toxin injection, ureteral reimplantation, or nephrectomy for recurrent urinary tract infections. Survival analysis and proportional hazards regression were used. Sensitivity analyses included: risk factor analysis with only vesicostomy, timing of surgery, including the entire population without minimal follow-up (n = 1054) and only patients with ≥ 5 years of follow-up (n = 925). Results Overall, 1029 patients with MMC were followed for a median of 17.0 years (49% female, 76% shunted). Seven patients (0.7%) developed ESKD at a median 24.3 years old (5 hemodialysis, 1 peritoneal dialysis, 1 transplantation). On survival analysis, the ESKD risk was 0.3% at 20 years old and 2.1% at 30 years old (Figure). This was ∼100 times higher than the general population (0.003% by 21 years old, p < 0.001). Patients who underwent early surgery for hostile bladder had higher ESKD risk (HR 8.3, p = 0.001, 6% vs. 1.5% at 30 years). On exploratory analyses, gender, birth year, shunt status and wheelchair use were not associated with ESKD risk (p ≥ 0.16). Thirty-year ESKD risk was 10% after early vesicostomy vs. 1.4% among children without one (p = 0.001). Children undergoing bladder surgery between 1.5 and 5 years old had a higher risk of ESKD. No other statistically/clinically significant differences were noted. Comment Patients with MMC remain at risk of progressive renal damage throughout life. We relied on the final binary ESKD outcome to quantify this risk, rather than imprecise glomerular filtration rate formulas. Analysis was limited by few people developing ESKD, inconsistent documentation of early urodynamic findings and indications for bladder-related surgery. Conclusions While ESKD is relatively uncommon in the MMC population receiving routine urological care, affecting 2.1% of individuals in the first 3 decades, it is significantly higher than the general population. Children with poor bladder function are likely at high risk, underlining the need for routine urological care, particularly in adulthood.Item Central precocious puberty in spina bifida children: Guidelines for the care of people with spina bifida(IOS Press, 2020) Almutlaq, Nourah; O’Neil, Joseph; Fuqua, John S.; Pediatrics, School of MedicineChildren 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.Item Decompression for Chiari malformation type II in individuals with myelomeningocele in the National Spina Bifida Patient Registry(American Association of Neurological Surgeons, 2018) Kim, Irene; Hopson, Betsy; Aban, Inmaculada; Rizk, Elias B.; Dias, Mark S.; Bowman, Robin; Ackerman, Laurie L.; Partington, Michael D.; Castillo, Heidi; Castillo, Jonathan; Peterson, Paula R.; Blount, Jeffrey P.; Rocque, Brandon G.; Neurological Surgery, School of MedicineObjective: The purpose of this study was to determine the rate of decompression for Chiari malformation type II in individuals with myelomeningocele in the National Spina Bifida Patient Registry (NSBPR). In addition, the authors explored the variation in rates of Chiari II decompression across NSBPR institutions, examined the relationship between Chiari II decompression and functional lesion level of the myelomeningocele, age, and need for tracheostomy, and they evaluated for temporal trends in rates of Chiari II decompression. Methods: The authors queried the NSBPR to identify all individuals with myelomeningocele between 2009 and 2015. Among these patients, they identified individuals who had undergone at least 1 Chiari II decompression as well as those who had undergone tracheostomy. For each participating NSBPR institution, the authors calculated the proportion of patients enrolled at that site who underwent Chiari II decompression. Logistic regression was performed to analyze the relationship between Chiari II decompression, functional lesion level, age at decompression, and history of tracheostomy. Results: Of 4448 individuals with myelomeningocele identified from 26 institutions, 407 (9.15%) had undergone at least 1 Chiari II decompression. Fifty-one patients had undergone tracheostomy. Logistic regression demonstrated a statistically significant relationship between Chiari II decompression and functional lesion level of the myelomeningocele, with a more rostral lesion level associated with a higher likelihood of posterior fossa decompression. Similarly, children born before 2005 and those with history of tracheostomy had a significantly higher likelihood of Chiari II decompression. There was no association between functional lesion level and need for tracheostomy. However, among those children who underwent Chiari II decompression, the likelihood of also undergoing tracheostomy increased significantly with younger age at decompression. Conclusions: The rate of Chiari II decompression in patients with myelomeningocele in the NSBPR is consistent with that in previously published literature. There is a significant relationship between Chiari II decompression and functional lesion level of the myelomeningocele, which has not previously been reported. Younger children who undergo Chiari II decompression are more likely to have undergone tracheostomy. There appears to be a shift away from Chiari II decompression, as children born before 2005 were more likely to undergo Chiari II decompression than those born in 2005 or later.Item The Future of the Multidisciplinary Clinic(Hindawi Publishing Corporation, 2007-11-12) Brei, Timothy J.; Pediatrics, School of MedicineThe multidisciplinary clinic is the accepted model for health care delivery related to spina bifida. This article focuses on the factors affecting multidisciplinary care delivery and future challenges for multidisciplinary programs.Item Linguistic, Content and Face Validity of the Swedish Version of a Quality-of-Life Assessment for Children, Teenagers and Adults with Spina Bifida(MDPI, 2024-05-15) Dellenmark-Blom, Michaela; Andersson, Marie; Szymanski, Konrad M.; Andréasson, Charlotta Levén; Arnell, Magdalena Vu Minh; Sjöström, Sofia; Abrahamsson, Kate; Pediatrics, School of MedicineSpina bifida includes a spectrum of different neural tube defects. Myelomeningocele is the most serious type and is associated with a risk of paralysis and sensory dysfunction below the affected level, bladder/bowel dysfunction, brain dysmorphology, and impaired health-related quality of life (HRQoL). The aim of this study was to describe the establishment of linguistic, content and face validity of the Swedish version of a Quality-of-Life Assessment for children (QUALAS-C, n = 10 items), teenagers (QUALAS-T, n = 10 items) and adults with spina bifida (QUALAS-A, n = 15 items) based on the original US English versions. The process included close collaboration with the original instrument developer and complied with international standards on patient-reported outcome measurements. The procedure includes forward translation, expert and patient/parent review and reconciliation, back translation, back translation review and cognitive debriefing interviews with 16 people with spina bifida aged 8 to 33, providing them with the possibility of evaluating the clarity, adequacy, and comprehensiveness of QUALAS-C, QUALAS-T and QUALAS-A, respectively. The interviews lasted a median of 15 min (range 8–16) for QUALAS-C, 10 min (range 9–15) for QUALAS-T and 24 min (range 9–38) for QUALAS-A. Four main issues/topics needed attention and discussion after both the forward and back translation. Following the back translation review, all issues were resolved. The patient feedback revealed recognition of the HRQoL issues included in QUALAS, and also difficulties in understanding some questions. After the patients’ evaluation, four items were reworded for clarity. No study participant reported a wish to add to or remove questions from QUALAS. Hence, the Swedish versions of QUALAS became conceptually equivalent to the original US English versions and achieved linguistic, content and face validity. While empowering the voices of people with spina bifida, these results also enable their HRQoL to be properly assessed in research and clinical care in Sweden and in international studies.Item Parent/caregiver’s role in nutrition, physical activity, and food access among children diagnosed with spina bifida(IOS Press, 2023) Whelan, JoAnne L.; Armstrong, Cheryl L. H.; Schroyer, Rebecca; O’Neil, Joseph; Nutrition and Dietetics, School of Health and Human SciencesPurpose: This pilot study aimed to determine the parent/caregiver's role in nutrition/eating habits, physical activity behaviors, and food access among children diagnosed with spina bifida (SB). Methods: Parents/caregivers of children with SB were asked to participate at a single, outpatient SB clinic. Demographic, biomedical data, parent/caregiver nutrition knowledge, family nutrition and physical activity (FNPA), and food security survey scores were compared. Descriptive, regression, and correlational statistics were conducted for analysis via SPSS 29. Results: Of the 117 parents/caregivers surveyed, completed data suggested most were overweight/obese (average body mass index [BMI] of 30.63 kg/m2±8.40; n = 99) with an average nutrition knowledge score of 71% (17.83±3.33). As FNPA scores decreased, the patient/child's maximum BMI z scores increased (β= -0.043; confidence interval -0.079, -0.007; p = 0.020), suggesting the less active and/or less healthy eating habits, the higher body mass was noted for the child. Forty four percent of children (n = 99) were in the overweight/obese weight range based on maximum BMI z score. Conclusion: These findings suggest there is a need for parental/caregiver nutrition education to assist children with SB with meal and activity planning to achieve optimal health.Item Parent/caregiver’s role in nutrition, physical activity, and food access among children diagnosed with spina bifida(IOS, 2023) Whelan, JoAnne L.; Armstrong, Cheryl L. H.; Schroyer, Rebecca; O'Neil, Joseph; Pediatrics, School of MedicinePURPOSE: This pilot study aimed to determine the parent/caregiver’s role in nutrition/eating habits, physical activity behaviors, and food access among children diagnosed with spina bifida (SB). METHODS: Parents/caregivers of children with SB were asked to participate at a single, outpatient SB clinic. Demographic, biomedical data, parent/caregiver nutrition knowledge, family nutrition and physical activity (FNPA), and food security survey scores were compared. Descriptive, regression, and correlational statistics were conducted for analysis via SPSS 29. RESULTS: Of the 117 parents/caregivers surveyed, completed data suggested most were overweight/obese (average body mass index [BMI] of 30.63 kg/m2±8.40; n = 99) with an average nutrition knowledge score of 71% (17.83±3.33). As FNPA scores decreased, the patient/child’s maximum BMI z scores increased (β= –0.043; confidence interval –0.079, –0.007; p = 0.020), suggesting the less active and/or less healthy eating habits, the higher body mass was noted for the child. Forty four percent of children (n = 99) were in the overweight/obese weight range based on maximum BMI z score. CONCLUSION: These findings suggest there is a need for parental/caregiver nutrition education to assist children with SB with meal and activity planning to achieve optimal health.Item Research Needs for Effective Transition in Lifelong Care of Congenital Genitourinary Conditions: A Workshop Sponsored by the National Institute of Diabetes and Digestive and Kidney Diseases(Elsevier, 2017-05) Hsieh, Michael; Wood, Hadley M.; Dicianno, Brad E.; Dosa, Nienke P.; Gomez-Lobo, Veronica; Mattoo, Tej K.; Misseri, Rosalia; Norton, Jenna M.; Sawin, Kathleen J.; Scal, Peter; Wright, James E.; Star, Robert A.; Bavendam, Tamara; Urology, School of MedicineOver the last 5 decades, health-care advances have yielded quantum improvements in the life expectancy of individuals with congenital genitourinary conditions (CGCs), leading to a crisis of care. Many individuals with CGC enter adulthood unprepared to manage their condition. Pediatric CGC specialists lack training to manage adulthood-related health-care issues, whereas adult genitourinary specialists lack training within the context of CGCs. To address these challenges, the National Institutes of Diabetes and Digestive and Kidney Diseases convened individuals with CGCs and experts from a variety of fields to identify research needs to improve transitional urology care. This paper outlines identified research needs.Item Sexual activity and function of adult men with spina bifida(Elsevier, 2023-06) Szymanski, Konrad M.; Roth, Joshua D.; Hensel, Devon J.; Wiener, John S.; Younsi, Nina; Stein, Raimund; Whittam, Benjamin; Kaefer, Martin; Rink, Richard C.; Cain, Mark P.; Misseri, Rosalia; Urology, School of MedicineObjective Data on sexual function of men with spina bifida (SB) is limited. We aimed to assess sexual activity and erectile dysfunction (ED) in a large international sample of men with SB. Methods Men with SB (≥18yo) were recruited in an international online survey via clinics and social media. We collected data on demographics, ambulation (Hoffer classification), penile rigidity (Erection Hardness Score), sexual activity and ED (International Index of Erectile Function). Non-parametric tests were used. Results A total of 162 men (median age 35, 62% shunted, 38% community ambulators) reported sexual desire similar to the general population (p = 0.82), but 55% were dissatisfied with their sex life (Summary Table). Overall, 36% reported full penile rigidity with erections, more commonly with better ambulation (p = 0.01), 69% had ever experienced orgasm and 84% ejaculated. In 44 men (27%) attempting sexual intercourse in the last 4 weeks, 59% had ED (11% severe, 7% moderate, 14% mild-moderate, 27% mild). In this group, 91% of men reporting less than full penile rigidity had ED, compared to 30% with full penile rigidity (p = 0.001). Overall, partnered non-genital contact in the last 3 months was reported by 56%, solo masturbation: 62%, partnered intercourse: 48% (31% vaginal). Of 54 men who used phosphodiesterase type 5 inhibitors (PDE5I), 80% reported improved erections, 56% improved intercourse. Overall, 40% reported non-genital erogenous zones as most pleasurable, especially with poorer ambulation (p = 0.002, chest/nipples: 73%). Comment Strengths of this study include anonymous, voluntary, online participation maximizing participation of a heterogenous, international population. Whenever available, we compared findings to published values for the general population. Since romantic and sexual activity is a complex intersection of interest, opportunity and ability, a more comprehensive assessment was beyond the study's scope. Future work will focus on the interplay with issues like incontinence. Conclusions ED was frequent among men with SB, especially in men with poorer ambulation. PDE5 inhibitors may be beneficial. Partnered sexual activity was reported by half of the men, although it may not involve penetrative intercourse.Item Short stature and the effect of human growth hormone: Guidelines for the care of people with spina bifida(IOS Press, 2020) O'Neil, Joseph; Fuqua, John S.; Pediatrics, School of MedicineIt 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.