Browsing by Subject "Myelomeningocele"

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    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 Medicine
    Objective 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.
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    Causes of death among people with myelomeningocele: A multi-institutional 47-year retrospective study
    (IOS Press, 2023) Szymanski, Konrad M.; Adams, Cyrus M.; Alkawaldeh, Mohammad Y.; Austin, Paul F.; Bowman, Robin M.; Castillo, Heidi; Castillo, Jonathan; Chu, David I.; Estrada, Carlos R.; Fascelli, Michele; Frimberger, Dominic C.; Gargollo, Patricio C.; Hamdan, Dawud G.; Hecht, Sarah L.; Hopson, Betsy; Husmann, Douglas A.; Jacobs, Micah A.; MacNeily, Andrew E.; McLeod, Daryl J.; Metcalfe, Peter D.; Meyer, Theresa; Misseri, Rosalia; O'Neil, Joseph; Rensing, Adam J.; Routh, Jonathan C.; Rove, Kyle O.; Sawin, Kathleen J.; Schlomer, Bruce J.; Shamblin, Isaac; Sherlock, Rebecca L.; Slobodov, Gennady; Stout, Jennifer; Tanaka, Stacy T.; Weiss, Dana A.; Wiener, John S.; Wood, Hadley M.; Yerkes, Elizabeth B.; Blount, Jeffrey; Pediatrics, School of Medicine
    Purpose: This study aimed to analyze organ system-based causes and non-organ system-based mechanisms of death (COD, MOD) in people with myelomeningocele (MMC), comparing urological to other COD. Methods: A retrospective review was performed of 16 institutions in Canada/United States of non-random convenience sample of people with MMC (born > = 1972) using non-parametric statistics. Results: Of 293 deaths (89% shunted hydrocephalus), 12% occurred in infancy, 35% in childhood, and 53% in adulthood (documented COD: 74%). For 261 shunted individuals, leading COD were neurological (21%) and pulmonary (17%), and leading MOD were infections (34%, including shunt infections: 4%) and non-infectious shunt malfunctions (14%). For 32 unshunted individuals, leading COD were pulmonary (34%) and cardiovascular (13%), and leading MOD were infections (38%) and non-infectious pulmonary (16%). COD and MOD varied by shunt status and age (p < = 0.04), not ambulation or birthyear (p > = 0.16). Urology-related deaths (urosepsis, renal failure, hematuria, bladder perforation/cancer: 10%) were more likely in females (p = 0.01), independent of age, shunt, or ambulatory status (p > = 0.40). COD/MOD were independent of bladder augmentation (p = >0.11). Unexplained deaths while asleep (4%) were independent of age, shunt status, and epilepsy (p >= 0.47). Conclusion: COD varied by shunt status. Leading MOD were infectious. Urology-related deaths (10%) were independent of shunt status; 26% of COD were unknown. Life-long multidisciplinary care and accurate mortality documentation are needed.
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    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 Medicine
    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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    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 Medicine
    Objective: 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.
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    Prenatal Surgery for Open Fetal Spina Bifida in Patients with Obesity: A Review of Current Evidence and Future Directions
    (MDPI, 2024-09-24) Bonanni, Giulia; Zargarzadeh, Nikan; Krispin, Eyal; Northam, Weston T.; Bevilacqua, Elisa; Mustafa, Hiba J.; Shamshirsaz, Alireza A.; Obstetrics and Gynecology, School of Medicine
    Background: Obesity rates have significantly increased globally, affecting up to 40% of women of childbearing age in the United States. While prenatal repair of open fetal spina bifida has shown improved outcomes, most fetal surgery centers exclude patients with a body mass index (BMI) ≥ 35 kg/m2 based on criteria from the Management of Myelomeningocele Study (MOMS) trial. This exclusion raises concerns about healthcare equity and highlights a significant knowledge gap regarding the safety and efficacy of fetal spina bifida repair in patients with obesity. Objective: To review the current state of knowledge regarding open fetal surgery for fetal spina bifida in patients with obesity, focusing on safety, efficacy, and clinical considerations. Methods: A comprehensive literature search was conducted using the PubMed and EMBASE databases, covering articles from the inception of the databases to April 2024. Studies discussing fetal surgery for neural tube defects and documenting BMI measurements and their impact on surgical outcomes, published in peer-reviewed journals, and available in English were included. Quantitative data were extracted into an Excel sheet, and data synthesis was conducted using the R programming language (version 4.3.3). Results: Three retrospective studies examining outcomes of prenatal open spina bifida repair in a total of 43 patients with a BMI ≥ 35 kg/m2 were identified. These studies did not report significant adverse maternal or fetal outcomes compared to patients with lower BMIs. Our pooled analysis revealed a perinatal mortality rate of 6.1% (95% CI: 1.76-18.92%), with 28.0% (95% CI: 14.0-48.2%) experiencing the premature rupture of membranes and 82.0% (95% CI: 29.2-98.0%) delivering preterm (<37 weeks). Membrane separation was reported in 10.3% of cases (95% CI: 3.3-27.7%), the mean gestational age at birth was 34.3 weeks (95% CI: 32.3-36.3), and the average birth weight was 2651.5 g (95% CI: 2473.7-2829.4). Additionally, 40.1% (95% CI: 23.1-60.0%) required a ventriculoperitoneal shunt. Conclusion: While current evidence suggests that fetal spina bifida repair may be feasible in patients with obesity, significant limitations in the existing body of research were identified. These include small sample sizes, retrospective designs, and a lack of long-term follow-up data. There is an urgent need for large-scale, prospective, multicenter studies to definitively establish the safety and efficacy of fetal spina bifida repair in patients with obesity. Such research is crucial for developing evidence-based guidelines, improving clinical outcomes, and addressing healthcare disparities in this growing patient population with obesity.
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    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 Medicine
    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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    Treated hydrocephalus in individuals with myelomeningocele in the National Spina Bifida Patient Registry
    (American Association of Neurological Surgeons, 2018) Kim, Irene; Hopson, Betsy D.; 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 Medicine
    Introduction: Although the majority of patients with myelomeningocele have hydrocephalus, reported rates of treatment of hydrocephalus vary widely. The purpose of this study was to determine the rate of surgical treatment for hydrocephalus in patients with myelomeningocele in the National Spina Bifida Patient Registry (NSBPR). In addition, we explored the variation in shunting rates across NSBPR institutions, examined the relationship between hydrocephalus and the functional lesion level of the myelomeningocele, and evaluated for temporal trends in rates of treated hydrocephalus. Methods: We queried the NSBPR to identify all patients with myelomeningoceles. Individuals were identified as having treated hydrocephalus if they had undergone at least one hydrocephalus-related operation. For each participating NSBPR institution, we calculated the proportion of patients enrolled at that site with treated hydrocephalus. Logistic regression was performed to analyze the relationship between hydrocephalus and the functional lesion level of the myelomeningocele as well as to compare the rate of treated hydrocephalus in children born before 2005 to those born in 2005 or later. Results: A total of 4448 patients with myelomeningocele were identified from 26 institutions, of whom 3558 patients (79.99%) had undergone at least one hydrocephalus-related operation. The rate of treated hydrocephalus ranged from 72% to 96% among institutions enrolling more than 10 patients. This difference in treatment rates between centers was statistically significant (p<0.001). Insufficient data were available in the NSBPR to analyze reasons for the different rate of hydrocephalus treatment between sites. Multivariate logistic regression demonstrated that more rostral functional lesion levels were associated with higher rates of treated hydrocephalus (p < 0.001) but demonstrated no significant difference in hydrocephalus treatment rates between children born before versus after 2005. Conclusion: The rate of hydrocephalus treatment in patients with myelomeningocele in the NSBPR is 79.99%, which is consistent with previously published literature. Our data demonstrate a clear association between functional lesion level of the myelomeningocele and the need for hydrocephalus treatment.