Safety and efficacy of waterproof casting for early onset scoliosis.

PURPOSE: The efficacy of traditional Mehta casting in the treatment of early onset scoliosis (EOS) is well-established. However, waterproof casting has not been previously described. Inherent advantages of waterproof casting include clearance for bathing/swimming, avoiding cast holidays, and improved family satisfaction. The purpose of this study was to assess the safety and efficacy of waterproof serial casting at controlling curve progression in EOS. METHODS: The current study is an IRB-approved Level IV retrospective consecutive cohort of EOS patients who underwent a serial 75% body weight traction-elongation-flexion Mehta cast protocol with waterproof cast padding. The addition of 3-point apical translation with stockinettes was utilized during casting. Bracing was initiated after correction < 15° or 1 year of serial casting. RESULTS: Seventeen patients at mean age 21.6 months, with pre-cast Cobb angle 52.3° (R: 35°-82°), underwent serial waterproof casting. In-cast correction index was 64%; for post-cast, Cobb angle was 18.6°. At mean 5.6 years follow-up (R: 2.3-8.9 years), 82% successfully avoided surgical intervention, 53% maintained correction < 25°, and 29% are considered "cured". 3/17 (18%) underwent a 2nd round of casting, and a total of 3/17 (18%) ultimately required surgery at 6.2 years post-casting. No major cast-related complications, decubiti, or cast holidays were encountered. CONCLUSION: Serial waterproof casting is safe and efficacious in EOS when compared to published results of traditional Mehta casting. Of 17 patients with mean pre-cast Cobb 52.3°, 82% successfully avoided surgery and 53% maintained mild curves < 25° magnitude at 5.6 years follow-up. No major complications or skin decubiti occurred, and advantages include clearance for bathing and avoidance of need for cast holidays during treatment. LEVEL OF EVIDENCE: Level IV.

Refining the referral criteria of persons who have been burned to palliative care: A modified Delphi approach.

A paucity of evidence is available to guide integration of specialist palliative care into burn care. This study's purpose was to develop consensus on referral criteria using a modified Delphi process. Content experts were defined as burn or palliative care providers in locations where the teams have collaborative history; published at least one manuscript or presented nationally on burn and palliative care collaboration; or nomination as having equivalent expertise. N = 202 eligible persons were identified; n = 43 participated in Iteration 1 and Iteration 3 retained 79%. Iteration 1 invited participants to rank published referral criteria on a 9-point Likert-style scale. Consensus was defined as an interquartile range ≤ 2. Consensus items with median scores ≤ 3 were dropped from further consideration. Consensus items with median scores ≥ 7 were considered to be important and excluded in Iteration 2. Iteration 2 which presented non-consensus items with their associated median (interquartile range) and the participant's own ranking from Iteration 1. Iteration 3 presented three models; participants ranked in order of preference and suggested revisions. Consensus was achieved on a final set of criteria for specialist palliative care for persons who sustain burn injuries. Future research should prospectively evaluate the criteria against meaningful outcomes.

Waterproof Hip Spica Casts for Pediatric Femur Fractures.

BACKGROUND: Hip spica casting is the treatment of choice for femur fractures in children ages 6 months to 5 years. Traditional spica (TS) casting utilizes cotton padding that precludes patient bathing. Waterproof (WP) casting has inherent advantages, including clearance for bathing and improved family satisfaction. This study examines the safety and efficacy of WP hip spica casting for the treatment of pediatric femur fractures. METHODS: This is a retrospective, matched cohort study of patients ≤5 years with a femur fracture treated with hip spica casting. Patients with WP casts were matched to patients with TS casts by age, sex, and fracture type. TS casts utilize a Goretex liner and cotton padding, while WP spicas utilize fully WP materials and can be completely submerged in water. RESULTS: Fifty patients were included (25 WP, 25 TS) without differences between cohorts in age, weight, or sex. There were no differences in operative time, length of stay, or length of time in cast. Patient charges were significantly lower in the WP group ($230 vs. $301, P <0.001). At cast-off, coronal/sagittal alignment and shortening were similar, while 9 TS patients had minor skin and/or cast complications that required outpatient repair versus only 1 WP patient ( P <0.001). CONCLUSIONS: In a matched comparison, WP spica casting significantly reduces skin and cast complications traditionally associated with cotton-based spica casting, with significantly lower charges for WP cast materials. Fracture healing rate, alignment, and shortening at cast-off are similar in WP versus TS casts. WP spica casting is safe and efficacious for pediatric femur fractures, with the inherent advantage of clearance for bathing. LEVEL OF EVIDENCE: Level 3.

Communication Training for Pediatric Hospitalists and its Impact on Clinical Practice with Families Using Languages Other than English.

OBJECTIVE: Providing equitable health care for children of families speaking Language Other than English (LOE) relies on linguistic services, including interpretation and translation. Inadequate education on effectively utilizing linguistic services can lead to a knowledge gap and subsequent challenges in leveraging these services. This study aims to evaluate the educational training provided to pediatric hospitalists and its association with clinical practice. METHODS: A multicenter cross-sectional survey of pediatric hospitalists was conducted through the Pediatric Research in Inpatient Setting (PRIS) network, a hospital-based independent research network. The survey was distributed to PRIS site leads with one response per institution. Associations between educational training received on proper communication with families speaking LOE and practice behaviors were analyzed using chi-square or Fisher's exact tests. RESULTS: We received responses from 72 out of 112 PRIS hospital site-leads. Among the respondents, 56% did not receive training on communication during their Graduate Medical Education years (residency or fellowship); 47% did not receive training at their current workplace. Only 6% of those receiving workplace training reported annual updates or refresher courses. Furthermore, 26% of respondents rated the training as "good," while 35% considered it "fair." Respondents who received training during Graduate Medical Education years and at their workplace reported that they asserted/advocated more on behalf of patients speaking LOE than those who did not (P < .01). CONCLUSION: Pediatric hospitalists lack adequate training to communicate effectively with families speaking LOE. Increased training is associated with increased advocacy. Further work should explore increasing communication training and its effect on patient outcomes.

Pediatric Palliative Care Referral Criteria Following Moderate or Severe Traumatic Brain Injuries.

Introduction/Aims: Traumatic brain injuries (TBIs) are one of the leading causes of death and disability in children and adolescents. A significant number of those who survive suffer from the lasting cognitive, physical, or behavioral effects of TBI while the loss is devastating for families. The aim of the study is to characterize the pediatric population and formulate referral criteria for palliative care (PC) consults who would guide the most beneficial allocation of resources. Methods: This is an IRB-approved retrospective chart review study from January 1, 2017, to October 1, 2021, of persons presenting to the emergency department of a 467-bed quaternary pediatric hospital in the midwest with a moderate or severe TBI (ICD-10: S.06.2X and S.06.5X9A). Participants were excluded if they were admitted directly from an outside hospital or if the diagnosis code did not meet criteria. Results: N = 33 patients presented with moderate or severe TBI, of which 17 had PC consult. There were no significant between-group demographic differences. Significant differences in clinical and outcome variables formed the basis of proposed referral criteria for specialist PC for children and adolescents sustaining a moderate-to-severe traumatic brain injury. Discussion: PC programs are a finite resource and should be available to and focused on those with greatest need. The proposed criteria provide empirically based guidance on when to consult, or consider consulting, specialist pediatric PC. Further testing of these criteria and their relationship with improved outcomes are desirable.

Through the Webcam: Impact of Telehealth on Developmental and Behavioral Pediatric Fellowship Training.

OBJECTIVE: The purpose of this study was to examine how fellowship program directors (PDs) and their fellows perceived the impact of telehealth on fellowship education in developmental behavioral pediatrics (DBP) during the COVID-19 pandemic. METHODS: Two surveys were designed targeting DBP PDs and fellows and were distributed by e-mail from January to May 2021. Surveys consisted of closed-ended and open-ended questions about telehealth's impact on didactics, clinical teaching, and clinical experience. Analyses included descriptive statistics, Fisher's exact test, χ 2 test, and qualitative classical content analysis. RESULTS: A total of 31 PDs (82%) and 62 fellows (51%) responded. Before the pandemic, 0% of programs had fellows do telehealth visits at least weekly vs during the pandemic, and 85% of the programs had fellows conduct telehealth video visits at least once/week ( p < 0.001). PDs and fellows agreed on many advantages of learning through telehealth particularly preceptors giving "real-time" feedback by private text messages and being able to observe fellow-run encounters unobtrusively. Ninety-four percent of fellows and 100% of fellowship directors believe that telehealth should be a formal part of DBP fellowship training even if in-clinic visits are available. CONCLUSION: Prepandemic and pandemic learning experiences differed significantly. PDs and fellows shared similar perceptions on how telehealth affected fellow education, except how telehealth affected didactics. Institutions varied in how telehealth was used to teach fellows, but many reported they found benefit in giving real-time feedback using chat functions during telehealth appointments. DBP fellowship programs should consider providing specific guidance to effectively teach telehealth to fellows.

Efficacy of intrathecal morphine administration in pediatric patients undergoing selective dorsal rhizotomy.

PURPOSE: The purpose of this study was to evaluate the effectiveness of intrathecal morphine following selective dorsal rhizotomy in pediatric patients previously diagnosed with cerebral palsy. METHODS: This was a retrospective, cohort analysis over the course of four years. The analysis consisted of a treatment group which received intrathecal morphine (5 mcg/kg) injection and a control group that did not receive the injection prior to dural closure. All patients underwent multilevel laminectomies for selective dorsal rhizotomy at Akron Children's Hospital. The effectiveness of the treatment was measured by total dose of hydromorphone administered on patient-controlled analgesia (PCA), number of days on oral narcotics, and cumulative dose of oral narcotic. RESULTS: Of the analyzed 15 pediatric patients, seven patients received intrathecal morphine injection while the other eight did not receive the treatment prior to dural closure. There was a difference of 1135 mcg in total PCA dose between the study group (3243 mcg) and the control group (4378 mcg). The total PCA dose based on weight was lower in the study group (163 mcg/kg) than in the control group (171 mcg/kg). CONCLUSION: Based on these findings, the administration of intrathecal morphine clinically reduces the opiate need in the first 96 hours post-operatively.

Linguistic Services for Hospitalized Children With Non-English Language Preference: A PRIS Network Survey.

BACKGROUND AND OBJECTIVES: Linguistic services, including verbal interpretation and written translation, are critical to providing equitable health care for families with non-English language preference (NELP). Despite evidence of provider disuse and misuse of linguistic services and resultant adverse outcomes, few studies have assessed the practices of pediatric hospitalists related to the use of linguistic services. Our objectives were to evaluate the current practices of communication and linguistic services used by pediatric hospitalists for hospitalized children with NELP and the barriers encountered in their use. METHODS: We conducted a multicenter cross-sectional survey of pediatric hospitalist site leaders through the Pediatric Research in Inpatient Setting network, an independent, hospital-based research network. The survey was created through an iterative process and underwent a face validation process with hospitalists and a survey methodology expert. RESULTS: We received responses from 72 out of 112 hospitalists (64%). Interpreter services were available widely; translation services were available in 49% of institutions. Difficulty accessing the services timely was reported as the most common barrier. Among respondents, 64% "strongly agree" or "somewhat agree" that they visit and give updates more frequently to English-speaking families than to NELP. Hospitalists reported using interpreter services "always" during 65% of admissions, 57% of discharges, and 40% on rounds. CONCLUSIONS: Families with NELP do not receive appropriate linguistic care when hospitalized. Providers update English-speaking families more frequently than non-English speaking families. Future directions include optimizing workflow to reduce the time constraints on hospitalists and increasing the timeliness and quality of interpreters and translators.

Integrating Palliative Care into Burn Care: A Retrospective Application of Criteria for Appropriate Referral.

Burn injuries often require complex interdisciplinary care. Despite potential benefits, consultation with specialist palliative care typically occurs in 2% of burn admissions, due largely to lack of availability and misconceptions concerning palliative care. Criteria to guide consultation with specialist palliative care have been developed at this institution. The purpose of this study was to quantify the sensitivity and specificity of these criteria, and then optimize them. Retrospective examination of 388 admissions over 15 months at this adult and pediatric Burn Center were conducted. Chi-square or Fisher's exact test for categorical variables and Wilcoxon Rank Sum test for continuous variables were used to test for between-group differences in demographic and clinical characteristics. Logistic regression model was built to determine modified Baux cut-off score using Youden index (J) value. Criteria were sensitive (0.96) and specific (0.90), though with a low positive predictive value (0.43). Persons with lengths of stay greater than one week, advanced directives, Allow Natural Death orders, and/or deterioration events were significantly more likely to have had palliative care consulted. There were significant between-group differences (with/without palliative care consultation) based on burn surface area, modified Baux score, and mortality risk. Potential criteria revisions are proposed. Prospective adherence to revised criteria could provide useful guidance to providers and benefit to patients and families.

Palliative Care and Burn Care: Empirically Derived Referral Criteria.

Burns frequently require complex interdisciplinary care. Specialist palliative care (PC) minimizes suffering, aids in decision making, and provides family support in addition to end-of-life care. Specialist PC is a limited resource, best conserved by identifying persons most likely to benefit from a PC referral. Little guidance is available for clinicians on whether and when to refer to PC. This study's purpose was to identify referral criteria using a mixed-methods approach. Data were examined for between-group differences using Fisher's exact, chi-square, or Wilcoxon Rank Sum tests. Qualitative thematic analysis was used to analyze PC provider notes to describe interventions provided. These data formed initial referral criteria, which were reviewed by an expert panel. Significant between-group differences included dying in the burn center; whether multiple patients were transported to the burn center from one event; and ventilator days. Four themes emerged from qualitative analysis. These included managing physical aspects of care; clarifying goals of care; managing end-of-life care; and managing patient/family psychosocial distress. Expert panel input clarified referral criteria language and supplemented the proposed criteria. We present empirically derived referral criteria to guide burn providers in referring persons for specialist PC. Subsequent testing is required to determine their efficacy in improving patient/family outcomes.

Hemodynamic profile effects of PM101 amiodarone formulation in patients with post-operative tachyarrhythmias.

Amiodarone may be considered for patients with junctional ectopic tachycardia refractory to treatment with sedation, analgesia, cooling, and electrolyte replacements. There are currently no published pediatric data regarding the hemodynamic effects of the newer amiodarone formulation, PM101, devoid of hypotensive agents used in the original amiodarone formulation. We performed a single-center, retrospective, descriptive study from January 2012 to December 2020 in a pediatric ICU. Thirty-three patients were included (22 male and 11 female) between the ages of 1.1 and 1,460 days who developed post-operative junctional ectopic tachycardia or other tachyarrhythmias requiring PM101. Data analysis was performed on hemodynamic parameters (mean arterial pressures and heart rate) and total PM101 (mg/kg) from hour 0 of amiodarone administration to hour 72. Adverse outcomes were defined as Vasoactive-Inotropic Score >20, patients requiring ECMO or CPR, or patient death. There was no statistically significant decrease in mean arterial pressures within the 6 hours of PM101 administration (p > 0.05), but there was a statistically significant therapeutic decrease in heart rate for resolution of tachyarrhythmia (p < 0.05). Patients received up to 25 mg/kg in an 8-hour time for rate control. Average rate control was achieved within 11.91 hours and average rhythm control within 62 hours. There were four adverse events around the time of PM101 administration, with three determined to not be associated with the medication. PM101 is safe and effective in the pediatric cardiac surgical population. Our study demonstrated that PM101 can be used in a more aggressive dosing regimen than previously reported in pediatric literature with the prior formulation.

Current state and practice variation in the use of Meningitis/Encephalitis (ME) FilmArray panel in children.

BACKGROUND: The Meningitis/Encephalitis FilmArray® Panel (ME panel) was approved by the U.S. Food and Drug Administration in 2015 and provides rapid results when assessing patients with suspected meningitis or encephalitis. These patients are evaluated by various subspecialties including pediatric hospital medicine (PHM), pediatric emergency medicine (PEM), pediatric infectious diseases, and pediatric intensive care unit (PICU) physicians. The objective of this study was to evaluate the current use of the ME panel and describe the provider and subspecialty practice variation. METHODS: We conducted an online cross-sectional survey via the American Academy of Pediatrics Section of Hospital Medicine (AAP-SOHM) ListServe, Brown University PEM ListServe, and PICU Virtual pediatric system (VPS) Listserve. RESULTS: A total of 335 participants out of an estimated 6998 ListServe subscribers responded to the survey. 68% reported currently using the ME panel at their institutions. Among test users, most reported not having institutional guidelines on test indications (75%) or interpretation (76%). 58% of providers self-reported lack of knowledge of the test's performance characteristics. Providers from institutions that have established guidelines reported higher knowledge compared to those that did not (51% vs. 38%; p = 0.01). More PHM providers reported awareness of ME panel performance characteristics compared to PEM physicians (48% vs. 27%; p = 0.004); confidence in test interpretation was similar between both groups (72 vs. 69%; p = 0.80). CONCLUSION: Despite the widespread use of the ME panel, few providers report having institutional guidelines on test indications or interpretation. There is an opportunity to provide knowledge and guidance about the ME panel among various pediatric subspecialties.

Glycogen storage disease type 1a in the Ohio Amish.

Glycogen storage disease type 1a (GSD1a) is an inborn error of glucose metabolism characterized by fasting hypoglycemia, hepatomegaly, and growth failure. Late complications include nephropathy and hepatic adenomas. We conducted a retrospective observational study on a cohort of Amish patients with GSD1a. A total of 15 patients cared for at a single center, with a median age of 9.9 years (range 0.25-24 years) were included. All patients shared the same founder variant in GCPC c.1039 C > T. The phenotype of this cohort demonstrated good metabolic control with median cohort triglyceride level slightly above normal, no need for continuous overnight feeds, and a higher quality of life compared to a previous GSD cohort. The most frequent complications were oral aversion, gross motor delay, and renal hyperfiltration. We discuss our unique care delivery at a single center that cares for Amish patients with inherited disorders.

Examining Illness through Pediatric Poetry and Prose: A Mixed Methods Study.

The purpose of this mixed-methods retrospective study was to characterize the linguistic and narrative properties of texts generated by hospitalized pediatric patients who are experiencing significant illnesses. These young writers voluntarily participated in a narrative intervention through a program at a children's hospital that serves diverse urban and rural populations. The primary aim was to use interpretive theoretical analysis and linguistic analysis to test the following hypotheses: (1) hospital-generated texts have linguistic characteristics consistent with texts written to improve health outcomes; (2) stories told by pediatric patients through poetry and prose can be classified using Frank's illness narrative types, serving as a starting point to situate caregivers into the pediatric writer's world in a moment in time; (3) pediatric stories are authentic stories that yield important insights about patients and their relationships with others despite lacking formal narrative elements (e.g., plot) and form.

A Retrospective Examination of Home PCA Use and Parental Satisfaction With Pediatric Palliative Care Patients.

INTRODUCTION: Home Patient-Controlled Analgesia (PCA) is an effective and often preferred therapy for the treatment of chronic pain symptoms in the pediatric palliative care patient. There is little previous research of patient experience with Home PCA. The purpose of this study was to investigate use of home PCA devices in pediatric patients to inform palliative care providers considering an alternative management option for the treatment of end-of-life or chronic pain. METHODS: A chart review was performed of patients prescribed home PCA. Surveys were sent to patients' guardians/caregivers. Questions referred to caregiver impression/satisfaction with information provided regarding use of the PCA machine, the medication used, the benefits and risks of PCA, monitoring of patient pain level and alertness, machine efficacy, and fears and concerns. RESULTS: Thirty-four patients met inclusion criteria, and 18 patient families completed surveys. Demographic data showed that the majority were Caucasian and had a cancer diagnosis. Patient age and duration of home PCA use varied greatly. Overall, participants were satisfied with information received and felt positively about home PCA, albeit expressing concerns. The majority described the machine as easy to use and were satisfied with their child's pain management and level of alertness. CONCLUSION: Responses indicated that home PCA is a manageable and effective alternative to traditional analgesic medications for management of chronic pain in the pediatric patient.

Bolus gastric feeds improve nutrition delivery to mechanically ventilated pediatric medical patients: Results of the COntinuous vs BOlus multicenter trial.

BACKGROUND: Comparison of bolus gastric feeding (BGF) vs continuous gastric feeding (CGF) with respect to timing and delivery of energy and protein in mechanically ventilated (MV) pediatric patients has not been investigated. We hypothesized that bolus delivery would shorten time to goal nutrition and increase the percentage of goal feeds delivered. METHODS: Multicenter, prospective, randomized comparative effectiveness trial conducted in seven pediatric intensive care units (PICUs). Eligibility criteria included patients aged 1 month to 12 years who were intubated within 24 h of PICU admission, with expected duration of ventilation at least 48 h, and who were eligible to begin enteral nutrition within 48 h. Exclusion criteria included patients with acute or chronic gastrointestinal pathology or acute surgery. RESULTS: We enrolled 158 MV children between October 2015 and April 2018; 147 patients were included in the analysis (BGF = 72, CGF = 75). Children in the BGF group were slightly older than those in the CGF; otherwise, the two groups had similar demographic characteristics. There was no difference in the percentage of patients in each group who achieved goal feeds. Time to goal feeds was shorter in the BGF group (hazard ratio 1.5 [CI 1.02-2.33]; P = 0.0387). Median percentage of target kilocalories (median kcal 0.78 vs 0.59; P ≤ 0.0001) and median percentage of protein delivered (median protein 0.77 vs 0.59; P ≤ 0.0001) was higher for BGF patients. There was no difference in serial oxygen saturation index between groups. CONCLUSION: Our study demonstrated shorter time to achieve goal nutrition via BGF compared with CGF in MV pediatric patients. This resulted in increased delivery of target energy and nutrition. Further study is needed in other PICU populations.

End of Life Outside of "Business Hours": A Retrospective Review Evaluating Time of Death and Provider Time at End of Life.

Introduction: Pediatric palliative care (PPC) benefits patients and families, while potentially creating emotional and resource-management burdens for providers. This study's purpose was to characterize the occurrence of deaths attended by PPC providers outside of "business hours." Methods:N = 786 PPC patients at a single center died between 2008 and 2015. Descriptive statistics were prepared for all variables (Wilcoxon rank-sum test for continuous; chi-square or Fisher's exact test for categorical). Results:N = 434 (55%) of deaths occurred outside of business hours; n = 332 (70%) were attended by PPC. Time spent attending a death was not significantly longer when other PPC providers were present but was when certain tasks were performed (coordination with medical examiner and memory making). Conclusion: The occurrence of the majority of deaths outside of business hours has significant implications for service delivery models, provider emotional health, and health care value.

Vaccination patterns of the northeast Ohio Amish revisited.

OBJECTIVES: The Holmes County Amish have low vaccination rates, an increasingly diverse population, and have an increased incidence of certain inherited diseases. The objectives were to evaluate; the rate and influences of vaccine hesitancy compared to a decade ago, vaccination patterns between Amish affiliations, vaccine practices of Amish special needs children, and the Amish's acceptance of a COVID-19 vaccine. STUDY DESIGN: In April of 2020, a survey assessing vaccination patterns and beliefs were mailed to 1000 Amish families, including ultra-conservative Amish sects and special needs families. RESULTS: The response rate was 39%. Among 391 respondents, 59% did not vaccinate their children, compared to only 14% that refused all vaccinations reported by Wenger et al in the same community only a decade ago. The ultra-conservative Amish rejected vaccines more often. Amish special needs children were more likely to receive vaccines than healthy Amish children. 75% responded they would reject a COVID-19 vaccine. Fear of adverse effects was the most common reason to reject vaccines. Families that accepted vaccines were more likely to cite a healthcare worker as the primary influence to vaccinate. Wives were more likely to cite their spouse as the primary influence to vaccinate. Families that rejected vaccines were more likely to state their bishop was the most influential person on vaccination. CONCLUSION: The Holmes County Amish have decreasing vaccine acceptance. Efforts to improve vaccination will require a targeted focus on the primary influences and beliefs of sub-populations within the Amish. Physician advocacy, peer mentorship, father-directed education, and close partnership with Church leadership will be needed to limit vaccine-preventable disease. The Amish may be at risk for low uptake of a COVID-19 vaccine.

Cranial Suture Evaluation on Routine Pediatric MRI.

PURPOSE: The efficacy of magnetic resonance imaging (MRI) for evaluating sutures has not been well studied. CT with 3-dimensional reformats is currently the preferred modality for imaging the major cranial sutures. The role of MRI is primarily is for evaluating the brain for any concurrent malformations. Our objective was to evaluate the reliability of MRI when compared to CT for evaluation of cranial sutures. METHODS: A list of 500 consecutive patients who underwent an MRI as well as a CT study was obtained. Studies were done between January 2011 and December 2016. The inclusion criteria required the 2 studies to be performed within 3 months of each other. All MRI studies were reviewed by a pediatric neuroradiologist to determine whether the sagittal, coronal, and lambdoid sutures were patent, fused or could not be assessed with confidence. In cases where a confident determination could not be made, the studies were reviewed with another pediatric neuro-radiologist and a decision made in concurrence. The CT scans were then evaluated in a similar fashion, after the MRI review was completed. The CT and MRI results were then compared to determine the accuracy of the MRI in assessing the sutures. RESULTS: Mean age of the studied children was 8.54 years. Seventy-two percent of the sagittal sutures were seen. When seen the sagittal suture was correctly identified in 98% of cases as either fused or patent. The lambdoid suture was seen in 94.3% of studies and was correctly designated as patent or fused in 99.6% of that subset of cases. The coronal suture was seen in 66.3% of the cases and when seen was always (100%) correctly designated. The probability of agreement between MRI and CT increased with age. The probability of sutures which were not seen decreased with age. The false negative and positives remained low for all ages. CONCLUSIONS: MRI is a viable tool for detection of cranial sutures. The 3-dimensional T1 Weighted sequence was particularly useful in suture evaluation. Although the visibility of sutures is inferior to that on a CT scan, if detected, the accuracy scan is fairly accurate in establishing fusion vs patency. It should be a part of routine surveillance on every pediatric neuro MRI study given the neurocognitive implications of incidental sutural synostosis.

Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.

Propionic acidemia (PA) is caused by inherited deficiency of mitochondrial propionyl-CoA carboxylase (PCC) and results in significant neurodevelopmental and cardiac morbidity. However, relationships among therapeutic intervention, biochemical markers, and disease progression are poorly understood. Sixteen individuals homozygous for PCCB c.1606A > G (p.Asn536Asp) variant PA participated in a two-week suspension of therapy. Standard metabolic markers (plasma amino acids, blood spot methylcitrate, plasma/urine acylcarnitines, urine organic acids) were obtained before and after stopping treatment. These same markers were obtained in sixteen unaffected siblings. Echocardiography and electrocardiography were obtained from all subjects. We characterized the baseline biochemical phenotype of untreated PCCB c.1606A > G homozygotes and impact of treatment on PCC deficiency biomarkers. Therapeutic regimens varied widely. Suspension of therapy did not significantly alter branched chain amino acid levels, their alpha-ketoacid derivatives, or urine ketones. Carnitine supplementation significantly increased urine propionylcarnitine and its ratio to total carnitine. Methylcitrate blood spot and urine levels did not correlate with other biochemical measures or cardiac outcomes. Treatment of PCCB c.1606A > G homozygotes with protein restriction, prescription formula, and/or various dietary supplements has a limited effect on core biomarkers of PCC deficiency. These patients require further longitudinal study with standardized approaches to better understand the relationship between biomarkers and disease burden.