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IntroductionAdvocacy and human rights organizations have called for a moratorium on elective surgical procedures until the patient is able to fully participate in the decision-making process. Due to the controversial nature surrounding surgery in differences of sex development (DSD) care, we aimed to assess the factors that teens and adults with DSD, parents, healthcare providers and other allied professionals consider pertinent to complex surgical decisions in DSD.MethodsStakeholders (n=110) in DSD care participated in semi-structured interviews exploring features and potential determinants of successful healthcare outcomes. Audio-recordings were transcribed, coded, and analyzed using qualitative data software. Codes for “Process of Decision-Making” and “Successful Outcome–Surgery/Appearance/Function” were further searched using keywords “surgery,” “procedure,” and “timing.”ResultsSeveral themes were identified: 1) The nature or type of the decision being made; 2) Who should be involved in the decision-making process; 3) Timing of conversations about surgery; 4) Barriers to decision-making surrounding surgery; 5) The elements of surgical decision-making; and 6) The optimal approach to surgical decision-making. Many stakeholders believed children and adolescents with DSD should be involved in the process as developmentally appropriate.ConclusionDSD include a wide range of diagnoses, some of which may require urogenital reconstruction to relieve obstruction, achieve continence, and/or address other anatomical differences whether cosmetic or functional. Adolescents and adults with DSD desired autonomy and to be part of the decision-making process. Parents were divided in their opinion of who should be involved in making elective surgical decisions: the child or parents as proxy medical decision-makers. Providers and other professionals stressed the importance of process and education around surgical decisions. Ongoing research examines how decision-makers evaluate tradeoffs associated with decision options.

IntroductionParents of infants and young children newly diagnosed with differences of sex development (DSD) commonly face medical and psychosocial management decisions at a time when they are first learning about the condition and cannot consult their child for input. The aim of this study was to identify areas of greatest need for parental decisional support.Methods34 parents of children receiving care for DSD at one of three US children’s hospitals participated in a survey to learn what clinical and psychosocial decisions needed to be made on behalf of their child. Parents were then asked to identify and focus on a “tough” decision and respond to questions assessing factors affecting decision-making, decision-making preferences, decisional conflict, and decision regret. Descriptive analyses were conducted.ResultsDecisions about surgery and aspects of sharing information about their child’s condition with others were the two most frequently reported decisions overall, experienced by 97% and 88% of parents, as well as most frequently nominated as tough decisions. Many parents reported mild to moderate levels of decisional conflict (59%) and decision regret (74%). Almost all parents (94%) reported experiencing at least one factor as interfering with decision-making (e.g., “worried too much about choosing the ‘wrong’ option”). Parents universally reported a desire to be involved in decision-making – preferably making the final decision primarily on their own (79%), or together with their child’s healthcare providers (21%). The majority of parents judged healthcare providers (82%) and patient/family organizations (58%) as trustworthy sources of information.DiscussionParents of children with DSD encounter medical, surgical, and psychosocial management decisions. Despite difficulties including emotional distress and informational concerns (including gaps and overload), parents express strong desires to play key roles in decision-making on behalf of their children. Healthcare providers can help identify family-specific needs through observation and inquiry in the clinical context. Together with families, providers should focus on specific clinical management decisions and support parental involvement in making decisions on behalf of young children with DSD.

ObjectiveTo present the design and methodology for an actively enrolling comparative effectiveness study of revision palatoplasty versus pharyngoplasty for the treatment of velopharyngeal insufficiency (VPI)DesignProspective observational multicenter studySettingTwelve hospitals across the United States and CanadaParticipantsIndividuals who are 3–23 years of age with a history of repaired cleft palate and a diagnosis of VPI, with a total enrollment target of 528 participantsInterventionsRevision palatoplasty and pharyngoplasty (either pharyngeal flap or sphincter pharyngoplasty), as selected for each participant by their treatment teamMain Outcome Measure(s)The primary outcome is resolution of hypernasality, defined as the absence of consistent hypernasality as determined by blinded perceptual assessment of a standard speech sample recorded twelve months after surgery. The secondary outcome is incidence of new onset obstructive sleep apnea. Statistical analyses will use propensity score matching to control for demographics, medical history, preoperative severity of hypernasality, and preoperative imaging findings.ResultsStudy recruitment began February 2021. As of September 2022, 148 participants are enrolled, and 78 have undergone VPI surgery. Enrollment is projected to continue into 2025. Collection of postoperative evaluations should be completed by the end of 2026, with dissemination of results soon thereafter.ConclusionsPatients with VPI following cleft palate repair are being actively enrolled at sites across the US and Canada into a prospective observational study evaluating surgical outcomes. This study will be the largest and most comprehensive study of VPI surgery outcomes to date.

OBJECTIVES: To characterize the types of multisite pain experienced by children with functional abdominal pain disorders (FAPDs) and to examine differences in psychosocial distress, functional disability and health-related quality of life in children with multisite pain vs. abdominal pain alone. STUDY DESIGN: Cross-sectional study of children ages 7-17 years (n=406) with pediatric Rome III FAPDs recruited from both primary and tertiary care between January 2009 and June 2018. Subjects completed 14-day pain and stool diaries, as well as validated questionnaires assessing abdominal and non-abdominal pain symptoms, anxiety, depression, functional disability and health-related quality of life. RESULTS: 295 (73%) children endorsed at least one co-occurring non-abdominal pain thus were categorized as having multisite pain with the following symptoms: 172 (42%) headaches, 143 (35%) chest pain, 134 (33%) muscle soreness, 110 (27%) back pain, 94 (23%) joint pain, and 87 (21%) extremity (arms and legs) pain. In addition, 200 children (49%) endorsed two or more non-abdominal pain symptoms. Participants with (vs without) multisite pain had significantly higher abdominal pain frequency (P

This survey study aims to determine the prevalence of pregnancy complications and infertility in female physicians in comparison to the general population. Risk factors, workplace environment, and education are also examined.Physicians undertake long training and have stressful work environments during optimal childbearing years. While growing literature indicates increased rates of pregnancy complications and infertility in female surgeons, the prevalence in female physicians of all specialties is unknown.An anonymous, voluntary survey was distributed to female physicians via private physician social media groups. It queried pregnancy demographics and complications, infertility diagnosis and treatment, workplace environment, and prior education on these topics. Results were compared to general population data, between medical and surgical subspecialties, and between physicians who were and were not educated on the risks of delaying pregnancy.4,533 female physicians completed the survey. Compared to the general population, female physicians were older at first pregnancy, more often underwent infertility evaluation and treatment, and had higher rates of miscarriage and pre-term birth. During training, only 8% of those surveyed received education on the risks of delaying pregnancy. Those who were educated were significantly less likely to experience miscarriage or seek infertility evaluation or treatment. Compared to physicians in nonsurgical specialties, surgeons had fewer children, were older at first pregnancy, had more pre-term births and fetal growth problems, and were more likely to be discouraged from starting a family during training and practice.Female physicians, particularly surgeons, have a significantly greater incidence of miscarriage, infertility, and pregnancy complications compared to the general population. The culture of medicine and surgery must continue to evolve to better support women with family planning during their training and careers.

Social support can be a protective factor against the negative mental health outcomes experienced by some parents and caregivers of children with differences of sex development (DSD). However, established social support networks can be difficult to access due to caregiver hesitancy to share information with others about their child's diagnosis. Health care providers in the field of DSD, and particularly behavioral health providers, are well positioned to help caregivers share information with the important people in their lives in order to access needed social support. This article summarizes the development of a clinical tool to help clinicians facilitate discussions regarding information sharing with caregivers of children with DSD.Members of the psychosocial workgroup for the DSD -Translational Research Network completed a survey about their experiences facilitating information sharing discussions with caregivers of children with DSD and other health populations. The results of this survey were used to develop a clinical tool using ongoing iterative feedback from workgroup members, based on principles of user-centered design and quality improvement.Workgroup members consider information sharing an important aspect of working with caregivers of children with DSD. Additional resources and tools were identified as potentially helpful to these discussions.The DSD Sharing Health Information Powerfully-Team Version (SHIP-T) is a resource tool for DSD health care team members to utilize in hospital and ambulatory settings to help caregivers of children with DSD share information with their social support networks. The final SHIP-T is included in this article. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

Comprehensive fetal care centers address congenital anomalies by developing pre- and post-natal care plans in a multidisciplinary format. To reduce exposure during the Coronavirus Infectious Disease-2019 (COVID-19) pandemic, the Centers for MedicareMedicaid Services (CMS) broadened access to telehealth services. We assessed provider satisfaction with the rapid transition from in-person prenatal visits to multidisciplinary consultationsPatients referred to an urban academic fetal care center during the first 6 weeks of the COVID-19 pandemic underwent advanced imaging including fetal MRI, focused ultrasound, and fetal echocardiography. Subsequently, multidisciplinary telehealth consultations occurred with all providers attending virtually. Patients were given the option of attending the multidisciplinary telehealth consultation in a conference room in the hospital or from home. During these meetings, relevant images were reviewed with all participantsTwenty-two surveys were administered with a response rate of 82%. 89% of providers were highly satisfied with the telehealth format. 72% of providers would prefer the multidisciplinary telehealth format to an in-person visit for future visits after COVID-19 restrictions are lifted. 22% of providers would leave the choice to the patient's family. One provider preferred in-person visits. Some providers noted that virtual conferences limited the ability to draw pictures, show educational materials, and provide emotional support.Providers were overwhelmingly supportive of continuing multidisciplinary telehealth conferences for complex prenatal consultations, even after restrictions are lifted, which has led to the continuation of this model for the duration of the pandemic. Providers highlighted the convenience and improved care coordination across specialties. Further studies to examine the patient experience with virtual consultations are warranted.

Objective: Identify facilitators and barriers to implementing standardized outcome measurement in cleft care. Design: Cross-sectional, qualitative study. Setting/Participants: Participants included 24 providers and staff from a large, multidisciplinary cleft team in the southwest United States, 5 caregivers of children with cleft palate (with or without cleft lip) treated by this team, and 3 experts involved in implementing a cleft-specific standardized outcome measurement in the United Kingdom. Interventions: Semistructured, qualitative interviews were conducted exploring perceived facilitators and barriers to implementing standardized outcome measurement in cleft care. Interviews were audio-recorded, transcribed, and analyzed for content. The Consolidated Framework for Implementation Research was used to guide the interviews and analysis. The analysis focused on the characteristics of standardized outcome measurement that directly influence its adoption. Results: Participants identified both facilitators and barriers to implementing standardized outcome measurement. Facilitators included the strength and quality of evidence supporting improvements in cleft care delivery following implementation of standardized outcome measurement and the relative advantage of standardized outcome measurement over continuing the status quo. Barriers included the difficulty adapting standardized outcome measurement to meet local context and patient-specific needs and the complexity of implementing standardized outcome measurement. Conclusions: Providers, staff, and caregivers involved in cleft care perceive multiple benefits from standardized outcome measurement, while also recognizing substantial barriers to its implementation. Results from this study can be used to guide development of an implementation strategy for standardized outcome measurement that builds upon perceived strengths of the intervention and reduces perceived barriers.

Background: Palate re-repair has been proposed as an effective treatment for velopharyngeal insufficiency (VPI) with a low risk of obstructive sleep apnea (OSA). The authors conducted a systematic review and meta-analysis to determine the proportion of patients achieving normal speech resonance following palate re-repair for VPI, the proportion developing OSA, and the criteria for patient selection that are associated with increased effectiveness. Methods: PubMed, Embase, and Scopus were searched from inception through April 2018 for English language articles evaluating palate re-repair for the treatment of VPI in patients with a repaired cleft palate. Inclusion criteria included reporting of hypernasality, nasal air emission, nasometry, additional VPI surgery, and/or OSA outcomes. Meta-analysis was conducted using random effects models. Risk of bias was assessed regarding criteria for patient selection, blinding of outcome assessors, and validity of speech assessment scale. Results: Eighteen studies met inclusion criteria. The incidence of achieving no consistent hypernasality follow palate re-repair was 61% (95% confidence interval [CI]: 44%-75%). The incidence of additional surgery for persistent VPI symptoms was 21% (95% CI: 12%-33%). The incidence of OSA was 28% (95% CI: 13%-49%). Criteria for selecting patients to undergo re-repair varied, with anterior/sagittal position of palatal muscles (33%) and small velopharyngeal gap (22%) being the most common. No specific patient selection criteria led to superior speech outcomes ( P = .6572). Conclusions: Palate re-repair achieves normal speech resonance in many but not all patients with VPI. Further research is needed to identify the specific examination and imaging findings that predict successful correction of VPI with re-repair.

PurposeAdolescents develop their decision-making ability as they transition from childhood to adulthood. Participation in their medical care should be encouraged through obtaining assent, as recommended by the American Academy of Pediatrics (AAP). In this research, we aim to define the current knowledge of AAP recommendations and surgeon practices regarding assent for elective reconstructive procedures.MethodsAn anonymous electronic survey was distributed to North American paediatric surgeons and fellows through the American Pediatric Surgical Association (n=1353).ResultsIn total, 220 surgeons and trainees responded (16.3%). Fifty per cent of the surgeons who are familiar with the concept of assent had received formal training; 12% of the respondents had not heard of assent before the survey. Forty-seven per cent were aware of the 2016 AAP policy statement regarding assent in paediatric patients. Eighty-nine per cent always include adolescents as part of the consent discussion. Seventy-seven per cent solicit an expression of willingness to accept the proposed care from the patient. The majority (74%) of the surgeons perceived patient cooperation/understanding as the biggest barrier to obtaining assent. Over half of the respondents would consider proceeding with elective surgery despite the adolescent patient’s refusal. Reasons cited for proceeding with elective surgery include surgeons’ perception of medical necessity, perceptions of disease urgency, and lack of patient maturity.ConclusionPaediatric surgeons largely acknowledge the importance of assent, but variably practice the principles of obtaining assent from adolescent patients undergoing elective reconstructive procedures. Fewer surgeons are explicitly aware of formal policy statements or received formal training. Additional surgeon education and institutional policies are warranted to maximise inclusion of adolescents in their medical care.

Introduction: People with differences of sex development (DSD) and their families need education about these conditions while receiving emotional and peer support to participate in shared decision-making, reduce social isolation, and optimize physical and psychosocial outcomes. Barriers to education and support include limited knowledge and awareness by healthcare providers, tension among patient and medical communities, varied quality of educational resources, and the sensitive nature of DSD. We aimed to create an electronic repository of vetted quality online resources about DSD. Methods: The electronic resource repository (e-RR) was a collaboration between affected individuals and advocates and healthcare providers in the DSD-Translational Research Network (DSD-TRN), an NIH-supported consortium of US teams committed to standardizing and optimizing care in DSD. The e-RR development and ongoing growth involved: (1) identification of resources by the project team (3 advocates and 1 physician), (2) evaluation and feedback by DSD-TRN clinical teams, (3) creation of the e-RR, and (4) review and revision. Twitter-like descriptions accompanied each entry; resources were categorized by target age, audience, and condition. Results: Thirty-seven web-based educational, peer and advocacy support, and clinician-oriented resources were reviewed. Eight of 10 DSD-TRN teams responded to a survey regarding resource inclusion. Awareness of individual resources varied widely. Consensus was achieved when opinions differed; 30 resources were included. The e-RR is available online and as a downloadable booklet at http://www.accordalliance.org/resource-guide/. Conclusion: The e-RR increases awareness of and access to vetted educational and support resources for those with DSD and healthcare providers. It represents important collaboration between advocates and providers.

Traditional imaging modalities used to assess velopharyngeal insufficiency (VPI) do not allow for direct visualization of underlying velopharyngeal (VP) structures and musculature which could impact surgical planning. This limitation can be overcome via structural magnetic resonance imaging (MRI), the only current imaging tool that provides direct visualization of salient VP structures. MRI has been used extensively in research; however, it has had limited clinical use. Factors that restrict clinical use of VP MRI include limited access to optimized VP MRI protocols and uncertainty regarding how to interpret VP MRI findings. The purpose of this paper is to outline a framework for establishing a novel VP MRI scan protocol and to detail the process of interpreting scans of the velopharynx at rest and during speech tasks. Additionally, this paper includes common scan parameters needed to allow for visualization of velopharynx and techniques for the elicitation of speech during scans.

Background Shared decision-making (SDM) is the process by which patients/families and providers make healthcare decisions together. Our team of multidisciplinary disorders of sex development (DSD) has developed an SDM tool for parents and female patients with congenital adrenal hyperplasia (CAH) and associated genital atypia. What is new Elective genital surgery is considered controversial. SDM in a patient with genital atypia will allow patient/family to make an informed decision regarding surgical intervention. Case presentation Our patient is a 2.5-year-old female with CAH and genital atypia. Initially, her parents had intended to proceed with surgery; however, after utilizing the SDM checklist, they made an informed decision to defer urogenital sinus surgery for their daughter. Conclusions We successfully utilized an SDM tool with parents of a female infant with CAH and genital atypia, which allowed them to make an informed decision regarding surgery for their daughter. Future directions include a prospective enrolling study to determine the generalizability and applicability of SDM with families of children diagnosed with CAH.

Accurate diagnosis and stratification of children with irritable bowel syndrome (IBS) remain challenging. Given the central role of recurrent abdominal pain in IBS, we evaluated the relationships of pediatric IBS and abdominal pain with intestinal microbes and fecal metabolites using a comprehensive clinical characterization and multiomics strategy. Using rigorous clinical phenotyping, we identified preadolescent children (aged 7 to 12 years) with Rome III IBS (n = 23) and healthy controls (n = 22) and characterized their fecal microbial communities using whole-genome shotgun metagenomics and global unbiased fecal metabolomic profiling. Correlation-based approaches and machine learning algorithms identified associations between microbes, metabolites, and abdominal pain. IBS cases differed from controls with respect to key bacterial taxa (eg, Flavonifractor plautii and Lachnospiraceae bacterium 7_1_58FAA), metagenomic functions (eg, carbohydrate metabolism and amino acid metabolism), and higher-order metabolites (eg, secondary bile acids, sterols, and steroid-like compounds). Significant associations between abdominal pain frequency and severity and intestinal microbial features were identified. A random forest classifier built on metagenomic and metabolic markers successfully distinguished IBS cases from controls (area under the curve, 0.93). Leveraging multiple lines of evidence, intestinal microbes, genes/pathways, and metabolites were associated with IBS, and these features were capable of distinguishing children with IBS from healthy children. These multi-omics features, and their links to childhood IBS coupled with nutritional interventions, may lead to new microbiome-guided diagnostic and therapeutic strategies.

Bilateral gonadectomy was the historical recommendation for patients diagnosed with complete androgen insensitivity syndrome (CAIS) due to the perceived risk of malignancy in the gonads. However, new shared-decision making approaches are allowing patients to explore the option to defer surgery. Here we report two patients who presented with primary amenorrhea to their primary care provider (PCP). After imaging and karyotyping, these patients were diagnosed with CAIS. They underwent exams under anesthesia and diagnostic laparoscopies in which the gonads did not present any immediate concerns or indications for removal. After discussing their options using the shared-decision making approach with the differences in sex development (DSD) team, they opted to defer gonadectomy and follow up annually with imaging to monitor the gonads. Keywords: Complete androgen insensitivity syndrome, Gonadectomy, Shared-decision making

Rare medical conditions are difficult to study due to the lack of patient volume and limited research resources, and as a result of these challenges, progress in the care of patients with these conditions is slow. Individuals born with differences of sex development (DSD) fall into this category of rare conditions and have additional social barriers due to the intimate nature of the conditions. There is also a lack of general knowledge in the medical community about this group of diverse diagnoses. Despite these limitations, progress has been made in the study of effective ways to care for patients who are born with chromosomal or anatomical differences of their internal reproductive organs or external genitalia. Advocacy groups have placed a spotlight on these topics and asked for a thoughtful approach to educate parents of newborns, medical providers, and the adolescents and young adults themselves as they mature.(1) There is growing interest in the approaches to surgical reconstruction of the genitalia and the management of internal gonads, specifically the timing of procedures and the indications for those procedures.(2) Advocates suggest deferring surgical procedures until the affected individual can participate in the decision-making process. This approach requires a roadmap for addressing the long-term implications of delayed surgical management. Presented here is a review of the specific issues regarding the complex management of the various categories of DSD.

Summary Introduction Utilizing a qualitative phenomenological design, the Defining Successful Outcomes and Trade-offs study examined stakeholder perspectives regarding optimal healthcare delivery and outcomes for individuals with a difference/disorder of sex development (DSD). Objective We describe study methods and provide an overview of themes and subthemes. Study design Interviews were conducted with individuals with a DSD (n=24), parents of those with a DSD (n=19), healthcare providers (n=37), and others (n=30). Primary questions regarding clinical management of patients with DSD were: “What is a successful outcome?” and “How do you achieve it?” Results Themes included: understanding of DSD diagnosis and self-efficacy in management is necessary but complex; patient and family psychological well-being; support from others versus being stigmatized; affected person experiences physical health and accepts the implications of their condition; complexities in DSD decision making, roles and expectations; and knowledgeable providers and multidisciplinary teams are essential, notwithstanding persisting barriers (See Summary Figure). Participants recognized competing values potentially forcing trade-offs in decision making. Discussion. Recognition of diverse and sometimes conflicting perspectives regarding optimal pathways of care and outcomes – both within and among those with DSD and their providers –promises to enhance shared decision making. Conclusion Diverse perspectives and perceptions of trade-offs associated with DSD healthcare emphasize the need to tailor care for patients and families.

Purpose: Comprehensive fetal care centers address congenital anomalies by first performing advanced fetal imaging (e g ultrasound, echocardiography, fetal magnetic resonance imaging (MRI)) and later discussing those findings, the prognosis, pregnancy management, need for fetal intervention, delivery plan and postnatal management in a multi-disciplinary format This team approach to counseling can be logistically challenging due to the difficulty in assembling multiple providers from varied specialties on short notice To reduce exposure during the COVID-19 pandemic, the Centers for Medicare & Medicaid Services (CMS) broadened access to telehealth services We assessed provider satisfaction with the rapid transition from in-person prenatal visits to multidisciplinary consultations via telehealth as an adaptive response to the pandemic Methods: Patients who were referred to a busy fetal care center during the first six weeks of the pandemic were connected to the appropriate pediatric subspecialists by videoconference Some patients underwent advanced fetal imaging and a telehealth consultation with radiology and other appropriate subspecialists took place immediately after imaging was complete In other instances, imaging occurred and a telehealth visit with all applicable subspecialties took place in the patient's home at a later time During multidisciplinary meetings, the images were reviewed with all participants via screen sharing In some cases, providers met to review images prior to admitting the patient to the video call Provider type is listed in Table 1 Provider satisfaction with the telehealth paradigm was assessed by convenience sampling using an electronic survey Results: 22 surveys were administered and 18 providers responded for a response rate of 82% Table 2 shows the overall satisfaction with connectivity and with the format compared to in-person visits 89% of providers were highly satisfied with the telehealth format 72% of providers would prefer the multidisciplinary telehealth format to an in-person visit for future visits after COVID-19 restrictions are lifted 22% of providers would leave the choice to the patient's family One provider preferred in-person visits Other providers stated that they find inperson visits better for comforting the patient and for the ability to draw pictures or show educational materials Conclusion: Providers were overwhelmingly in support of multidisciplinary telehealth conferences for prenatal consultations This study shows that a multidisciplinary telehealth visit can be done with a high degree of satisfaction for providers Specific benefits included the ability to review images together as a team, to review the delivery plan and to provide care coordination across specialties Further studies are needed to better analyze the multidisciplinary approach to telehealth visits for prenatal care

Decisions about fertility preservation can be difficult in general but the recent application of preservation techniques to pediatric patients has ushered in a host of new ethical considerations. Fertility preservation (FP) may be considered for all patients who are at risk for infertility due to their medical diagnosis or treatment, including those undergoing gonadotoxic chemotherapy, those with differences of sex development (DSD) undergoing gonadectomy, 1 , 2 , 3 and transgender patients undergoing gender affirming surgery. The focus of this paper is to review the ethical issues involved in offering FP to pediatric oncology patients and, to a lesser extent, the new ethical issues that apply to patients with DSD. Some of the techniques and approach to counseling will also apply to transgender individuals, although that is beyond the scope of this work. We aim to discuss several barriers to offering FP and to advise how to counsel families in the setting of rapid changes in this field. Families should be educated about: • Infertility risk assessment and options for FP. • Experimental nature of certain technologies. • Appropriate consent of minor individuals and the concept of assent to treatment. • Financial barriers to storage and use of genetic material. • Time-sensitive nature of decision making. • Ownership of genetic material over the lifetime of a patient. Specific guidance for clinicians regarding some of these points was recently published in an American Academy of Pediatrics Clinical Report, 1 and we will illustrate the use of these guidelines in four case presentations.

ObjectivesThe aims of this study were to identify locations of births in Arizona with critical CHD, as well as to assess the current use of pulse-oximetry screening and capacities of birth centres to manage a positive screen.Study designInfants (n=487) with a potentially critical CHD were identified from the Arizona Department of Health Services from 2012 and 2013; charts were retrospectively reviewed. Diagnosis was confirmed using echocardiographies. ArcGIS was used to generate maps to visualise the location of treating facility and mother’s residence. Birth centres were surveyed to assess screening practices and capacities to manage critical CHD in 2015.ResultsOf the 272 patients identified with critical CHD, 52% had been diagnosed prenatally. Patients travelled an average distance of 55.1 miles to their treating facility. Mortality was not related to prenatal diagnosis (p=0.30), living at a high elevation (p=0.82), or to distance travelled to the treating facility (p=0.68). Of 50 birth centres, 33 responded to the survey and all centres practiced critical CHD screening. A total of 25 centres could perform paediatric echocardiographies; 64% of these centres could digitally transmit echocardiograms. In all, 24 birth centres maintained access to prostaglandins.ConclusionsPulse-oximetry screening in newborns is currently implemented in the majority of Arizona hospitals. Although most centres could perform initial management steps following a positive screen, access to paediatric cardiology services was limited. Patients with critical CHD sometimes travelled a great distance to treating facilities. Digital transmission of echocardiograms or tele-echocardiography would reduce the distance travelled for the management of a positive screen, decrease the financial burden of transportation, and expedite care for critically ill neonates.

Objectives This study evaluates whether certain patient or parental characteristics are associated with gastroenterology (GI) referral versus primary pediatrics care for pediatric irritable bowel syndrome (IBS). Methods A retrospective clinical trial sample of patients meeting pediatric Rome III IBS criteria was assembled from a single metropolitan health care system. Baseline socioeconomic status (SES) and clinical symptom measures were gathered. Various instruments measured participant and parental psychosocial traits. Study outcomes were stratified by GI referral versus primary pediatrics care. Two separate analyses of SES measures and GI clinical symptoms and psychosocial measures identified key factors by univariate and multiple logistic regression analyses. For each analysis, identified factors were placed in unadjusted and adjusted multivariate logistic regression models to assess their impact in predicting GI referral. Results Of the 239 participants, 152 were referred to pediatric GI, and 87 were managed in primary pediatrics care. Of the SES and clinical symptom factors, child self-assessment of abdominal pain duration and lower percentage of people living in poverty were the strongest predictors of GI referral. Among the psychosocial measures, parental assessment of their child's functional disability was the sole predictor of GI referral. In multivariate logistic regression models, all selected factors continued to predict GI referral in each model. Conclusions Socioeconomic environment, clinical symptoms, and functional disability are associated with GI referral. Future interventions designed to ameliorate the effect of these identified factors could reduce unnecessary specialty consultations and health care overutilization for IBS.

Background Children with irritable bowel syndrome (IBS) have lower health-related quality-of-life (HRQOL) than healthy controls (HC). Abdominal pain and psychosocial distress are negatively associated with HRQOL, although their relative effect is unclear. Aim The aim of this study was to compare the relative associations of abdominal pain and psychosocial distress with HRQOL in HC and IBS. Study Baseline abdominal pain, psychosocial distress, and HRQOL measures were obtained from HC and IBS pediatric clinical trial participants. Regression assessed which measures were most strongly associated with Physical and Psychosocial HRQOL separately by group. Interaction analyses examined group differences in the associations of abdominal pain and psychosocial distress with HRQOL. Results Eight-five HC and 213 children with IBS participated. Somatization was most strongly associated with Physical HRQOL in HC, and functional disability was most strongly related in IBS. With respect to Psychosocial HRQOL, somatization was most strongly associated for both HC and IBS; depression was also significantly associated in HC. The strength of association between somatization and Physical HRQOL differed between groups; the negative association was less pronounced for IBS than HC. The association between functional disability and both Physical and Psychosocial HRQOL differed significantly between groups; the negative associations were more pronounced for IBS than HC. Conclusions Multiple psychosocial distress measures, including somatization, were associated with HRQOL in children with IBS; HRQOL in HC was driven consistently by somatization, to the exclusion of other psychosocial concerns. The associations of somatization and functional disability with HRQOL are distinctly different between HC and IBS. This knowledge supports utilization of psychosocial interventions to improve overall well-being for children with IBS.

Individuals born on the spectrum of genetic abnormalities known as mixed gonadal dysgenesis (MGD) have a wide range of anatomical findings and management can be challenging in the newborn and adolescent. Historically, many individuals with MGD have undergone gonadectomy to avert the risk of gonadal malignancy. However, gonadectomy deprives patients of the benefits of their endogenous hormones, potential fertility, and in the case with MGD, has historically been done prior to addressing gender identity. Some patient advocates have proposed a delayed approach to surgical reconstructions and/or gonadectomy in other differences/disorders of sex development (DSD), particularly in patients with congenital adrenal hyperplasia and androgen insensitivity syndrome. In many areas of the world, there continues to be a shift toward delayed reconstructions and hesitancy regarding irreversible gonadectomy. To date, no clinical management protocol addressing these issues from a patient-centered approach has been described. We review what is known about malignancy risk and propose a management protocol for those with MGD that involves shared decision making regarding the gonads and addresses the long-term challenges with regard to gender and anatomy.

Caring for patients with congenital pelvic anomalies can be challenging in many ways but one crucial aspect is providing longitudinal into adulthood. Newborns with urinary, intestinal or vaginal obstruction require urgent operations to relieve obstruction followed by multiple reconstructive procedures involving the perineum. Openings are created in the pelvic floor musculature that did not exist in development. Adolescence presents further challenges for these postoperative patients while other diagnoses present for the first time in the peri-pubertal teenage years. Young adults can have new symptoms when they become sexually active and are faced with reproductive decisions. During all of these time periods, optimization of function is of paramount importance and patients who are suffering are not able to participate in school, sports or work. This study evaluates the prevalence of pelvic pain in newborns and adolescents with complex congenital pelvic anomalies, associated factors and possible treatment options.

Historically, individuals with androgen insensitivity syndrome (AIS) were managed with removal of gonadal tissue at various ages to avert the risk of gonadal malignancy. Recently, clinical practice changed, with gonadectomy being postponed until late adolescence. Adolescents and adults with complete AIS have questioned this approach. Additionally, testicular germ cell tumors are increasingly believed to be quite rare with rates as low as 0% in molecularly confirmed individuals with AIS. Gonadectomy deprives patients of the benefits of their endogenous hormones and potential fertility. Furthermore, human rights organizations advocate for deferring irreversible surgery in conditions known as differences of sex development, which includes AIS, to allow patient autonomy in decision-making. Recent literature supports an approach that uses risk stratification to manage gonads in AIS. Herein we review what is known about malignancy risk in the different subtypes of AIS and propose a management protocol for gonad retention.

BACKGROUND: Anxiety and depression are implicated as contributors to abdominal pain in pediatric irritable bowel syndrome (IBS) but is unclear if this pain is associated with other psychological factors. The study objective was to test if the impact of anxiety or depression on IBS symptom severity is mediated by somatization and/or pain catastrophizing. METHODS: We utilized baseline data from local pediatric IBS clinical studies. Through mediation analysis, we assessed whether somatization or pain catastrophizing mediated (either independently or combined) the separate relationships of anxiety or depression with IBS abdominal pain severity. KEY RESULTS: We analyzed 261 participants. All psychological factors were positively correlated with one another and IBS abdominal pain severity. The association of anxiety with IBS abdominal pain was mediated by both somatization and pain catastrophizing in individual analyses (each mediated standardized coefficient [β] 0.11, CI 0.05 – 0.18) and in multiple analysis (mediated standardized β 0.18, CI 0.09 – 0.27). The association of depression with IBS abdominal pain was also mediated by somatization (mediated standardized β 0.08, CI 0.02 – 0.14) and pain catastrophizing (mediated standardized β 0.06, CI 0.01 – 0.11) in individual analyses and in multiple analysis (mediated standardized β 0.19, CI 0.04 – 0.19). CONCLUSIONS & INFERENCES: Somatization and pain catastrophizing mediate the relationships between anxiety/depression and IBS abdominal pain severity. These findings suggest that somatization and pain catastrophizing may be better treatment targets than anxiety and depression. Clinicians should assess these psychological factors in pediatric IBS patients and refer for intervention to improve outcomes.

Adults with irritable bowel syndrome (IBS) frequently identify foods as exacerbating their gastrointestinal symptoms. In children with IBS, the prevalence of perceived food intolerances and their impact are unknown.Our aim was to determine the prevalence of self-perceived food intolerances and the relationship of these intolerances to abdominal pain, psychosocial distress, and quality of life in children with IBS.We conducted a cross-sectional study. Questionnaire and prospective diary data were collected from 2008 to 2014 by trained research coordinators.Participants were children 7 to 18 years old (pediatric Rome III IBS, n=154; age-sex matched healthy children, n=32) in Houston, TX.Perceived food intolerances and avoided foods were captured using the Childhood Food and Symptom Association Questionnaire. IBS severity was assessed by a ≥7-day pain diary and validated psychosocial questionnaires assessing quality of life, somatization, functional disability, depression, and anxiety.We used descriptive Spearman bivariate correlation, χ(2), and Poisson log-linear generalized model with Wald χ(2) statistics.A greater proportion of children with IBS (143 of 154 [92.9%]) vs healthy children (20 of 32 [62.5%]) identified at least one self-perceived food intolerance (χ(2)=22.5; P0.001). Children with IBS identified a greater number (median=4 [25% to 75% quartile=2 to 6]) of perceived symptom-inducing foods than healthy children (median=2 [25% to 75% quartile=0 to 4]; χ(2)=28.6; P0.001). Children with IBS avoided more foods (median=2 [25% to 75% quartile=1 to 4]) than healthy children (median=0 [25% to 75% quartile=0 to 2.75]; χ(2)=20.8; P0.001). The number of self-perceived food intolerances was weakly associated (r value range= -0.17 to 0.21) with pain frequency, pain severity, somatization, anxiety, functional disability, and decreased quality of life.Children with IBS have a high prevalence of self-perceived food intolerances. The number of these intolerances is weakly associated with measures of IBS severity.

Background & Aims Increased gut permeability might contribute to the pathogenesis of irritable bowel syndrome or functional abdominal pain (IBS or FAP). We investigated whether siblings and parents of children with IBS or FAP have increased gut permeability. Methods We performed permeability tests (using sucrose, lactulose, mannitol, and sucralose) on 29 siblings and 43 parents of children with IBS or FAP, and 43 children (controls) and 42 parents of controls, from primary and secondary care. Permeability studies were repeated in 7 siblings and 37 parents of children with IBS or FAP and 23 controls and 36 parents of controls following ingestion of 400 mg of ibuprofen. Percent recovery of sucrose was calculated based on analyses of urine collected overnight; the lactulose/mannitol ratio and percent recovery of sucralose were based on analyses of urine samples collected over a 24-hour period. Results When we controlled for age, sex, and family membership, siblings of children with IBS or FAP had increased small bowel permeability (urinary lactulose/mannitol ratio) vs controls (P = .004). There was no difference in gastroduodenal (percent sucrose recovery) or colonic (percent sucralose recovery) permeability between groups. Similarly, parents of children with IBS or FAP also had increased small bowel permeability, compared with parents of controls (P = .015), with no differences in gastric or colonic permeability. After administration of ibuprofen, gastroduodenal and small bowel permeability tended to be greater in IBS or FAP siblings (P = .08) and gastroduodenal permeability tended to be greater in IBS or FAP parents (P = .086). Conclusions Siblings and parents of children with IBS or FAP have increased baseline small intestinal permeability compared with control children and their parents. These results indicate that there are familial influences on gastrointestinal permeability in patients with IBS or FAP.

Background/Aims: Utilization of a psychosocial screener to identify families affected by a disorder/difference of sex development (DSD) and at risk for adjustment challenges may facilitate efficient use of team resources to optimize care. The Psychosocial Assessment Tool (PAT) has been used in other pediatric conditions. The current study explored the reliability and validity of the PAT (modified for use within the DSD population; PAT-DSD). Methods: Participants were 197 families enrolled in the DSD-Translational Research Network (DSD-TRN) who completed a PAT-DSD during a DSD clinic visit. Psychosocial data were extracted from the DSD-TRN clinical registry. Internal reliability of the PAT-DSD was tested using the Kuder-Richardson-20 coefficient. Validity was examined by exploring the correlation of the PAT-DSD with other measures of caregiver distress and child emotional-behavioral functioning. Results: One-third of families demonstrated psychosocial risk (27.9% “Targeted” and 6.1% “Clinical” level of risk). Internal reliability of the PAT-DSD Total score was high (α = 0.86); 4 of 8 subscales met acceptable internal reliability. A priori predicted relationships between the PAT-DSD and other psychosocial measures were supported. The PAT-DSD Total score related to measures of caregiver distress (r = 0.40, p < 0.001) and to both caregiver-reported and patient self-reported behavioral problems (r = 0.61, p < 0.00; r = 0.37, p < 0.05). Conclusions: This study provides evidence for the reliability and validity of the PAT-DSD. Given variability in the internal reliability across subscales, this measure is best used to screen for overall family risk, rather than to assess specific psychosocial concerns.

OBJECTIVES In adults with irritable bowel syndrome (IBS), bacterial gas production (colonic fermentation) is related to both symptom generation and intestinal transit. Whether gas production affects symptom generation, psychosocial distress, or intestinal transit in childhood IBS is unknown. METHODS Children (ages 7-17 years) with pediatric Rome III IBS completed validated psychosocial questionnaires and a 2-week daily diary capturing pain and stooling characteristics. Stool form determined IBS subtype. Subjects then completed a 3-hour lactulose breath test for measurement of total breath hydrogen and methane production. Carmine red was used to determine whole intestinal transit time. RESULTS A total of 87 children (mean age 13 ± 2.6 [standard deviation] years) were enrolled, of whom 50 (57.5%) were girls. All children produced hydrogen and 51 (58.6%) produced methane. Hydrogen and methane production did not correlate with either abdominal pain frequency/severity or psychosocial distress. Hydrogen and methane production did not differ significantly by IBS subtype. Methane production correlated positively with whole intestinal transit time (r = 0.31, P

Objectives A significant proportion of children with functional abdominal pain develop chronic pain. Identifying clinical characteristics predicting pain persistence is important in targeting interventions. We examined whether child anxiety and/or pain-stooling relations were related to maintenance of abdominal pain frequency and compared the predictive value of 3 methods for assessing pain-stooling relations (ie, diary, parent report, child report). Methods Seventy-six children (7-10 years old at baseline) who presented for medical treatment of functional abdominal pain were followed up 18 to 24 months later. Baseline anxiety and abdominal pain-stooling relations based on pain and stooling diaries and child- and parent questionnaires were examined in relationship to the persistence of abdominal pain frequency. Results Children's baseline anxiety was not related to persistence of pain frequency. Children who, however, displayed irritable bowel syndrome (IBS) symptoms at baseline maintained pain frequency at follow-up, whereas in children in whom there was no relationship between pain and stooling, pain frequency decreased. Pain and stool diaries and parent report of pain-stooling relations were predictive of pain persistence but child-report questionnaires were not. Conclusions The presence of IBS symptoms in school-age children with functional abdominal pain appears to predict persistence of abdominal pain over time, whereas anxiety does not. Prospective pain and stooling diaries and parent report of IBS symptoms were predictors of pain maintenance, but child report of symptoms was not.

Differences of sex development (DSD) include a variety of complex congenital genitourinary abnormalities--whether sporadic or hereditary. The 2006 DSD Consensus Statement and 2016 Update Consensus Statement encourage better communication among providers, between providers and parents, as well as among providers, parents, and patients when developmentally appropriate.(1, 2) However, a lack of clear communication about the diagnosis and its sequelae may occur at three levels: 1) disclosure from DSD patients’ families to their physician, 2) disclosure from patients to their families/communities, and 3) disclosure from the physician to the DSD patient. Additionally, there is a paucity of research available on how culture can impact disclosure among individuals with DSDs. This article discusses disclosure among the various stakeholders and briefly explores the impact of cultural expectations and beliefs with regards to disclosure.

Reports exist regarding a gradual approach to the care of patients with differences of sexual development. Each patient and family have different values and styles of learning that have to be taken into account. The goals of care should include education about the condition, counseling of the patient and family, and a complete outlining of treatment options. Motivated by a call from the 2010 Health Reform Law for the use of shared decision-making tools and the emphasis placed on these issues by the DSD Consensus Statement, we sought to develop and implement such tools for the DSD population. (1–3) Thus we developed an organized checklist for providers to share with a patients and families affected by CAIS beginning with the initial visit. The development of the document enlisted input from physicians, clinical coordinator, advocacy groups and affected individuals. It allows providers to explain the process of care and develop a plan for delivery of that care over multiple visits spanning six months or more. The checklist is divided into five sections: 1) An overview addressing how much information is desired and in what manner the patient prefers to obtain information; 2) A preferred words list so that the patient can choose nomenclature that is most comfortable; 3) A list of topics to review over the course of multiple visits; 4) A list of questions to be answered by the providers or other resources over time, and; 5) A list of concerns to be addressed before surgical intervention is considered. An organized approach to long-term delivery of compassionate care and accurate information can be facilitated for patients with CAIS by the use of a shared decision-making checklist. Documentation of the care delivery process can stimulate referral to peer support and promote fully informed consent for treatment decisions. The use of the checklist should encourage trust in the provider, as well as aid in identifying and addressing stressors for the patient and family. The checklist will be updated and revised as new treatments and advanced technology emerges.

The care of infants with congenital adrenal hyperplasia has recently been examined and principles of shared decision making are being used to aid families at that crucial stage of care. Although there is no rigorous data to support delay of surgery, some families are choosing to wait until the patient can participate in choosing the course of care. Whether patients undergo reconstructive procedures or not in the newborn period, they may need or desire revision or primary surgeries as an adolescent or young adult. The first priority for one of these young, now more autonomous, patients is to help them take charge of their own care and develop an understanding of their medical needs. In the process of providing that education, providers and teams can connect to the patient, their caregivers and advocates in a way that allows further investigation into possible medical and surgical needs in a less pressurized situation.

Objective To determine the relationship of both pubertal development and sex to childhood irritable bowel syndrome (IBS) clinical characteristics including gastrointestinal symptoms (eg, abdominal pain) and psychological factors. Study design Cross-sectional study with children ages 7-17 years (n = 143) with a pediatric Rome III IBS diagnosis recruited from both primary and tertiary clinics between January 2009 and January 2014. Subjects completed 14-day prospective pain and stool diaries, as well as validated questionnaires assessing several psychological factors (somatization, depression, anxiety) and Tanner stage. Stool form ratings were completed using the Bristol Stool Form Scale. Results Girls with higher Tanner scores (more mature pubertal development) had both decreased pain severity and pain interference; in contrast, boys with higher Tanner scores had both increasing pain severity (β = 0.40, P = .02) and pain interference (β = 0.16, P = .02). Girls (vs boys), irrespective of pubertal status, had both increased somatic complaints ( P = .005) and a higher percentage ( P = .01) of hard (Bristol Stool Form Scale type 1 or 2) stools. Pubertal status and sex did not significantly relate to IBS subtype, pain frequency, stooling frequency, anxiety, or depression. Conclusions In children with IBS, both pubertal development and/or sex are associated with abdominal pain severity, stool form, and somatization. These differences provide insight into the role of pubertal maturation during the transition from childhood to adult IBS.

Aliment Pharmacol Ther 2011; 33: 403–411 Summary Background Paediatric classification of irritable bowel syndrome (IBS) is complicated by the potential discrepancy between parent and child report and by the interpretation of pain-stool relations in the Rome III classification system. Aim To compare IBS classification by diary and by child and parent respondents. Methods Children (ages 7–10 years, n = 90) with recurrent abdominal pain and their parents completed IBS symptom questionnaires and 2-week pain and stool diaries. Diaries were coded with two algorithms, one defining stool changes individually and one defining changes normatively. Proportions of dichotomous classifications (IBS vs. not IBS) between pairs of classification methods/respondents were evaluated using Chi-squared tests (χ2) to determine whether coding methods were significantly related, the degree of inclusiveness, and whether differences in classification were randomly distributed. Results Individual and normative diary classifications were congruent in 62% of cases, but the individual method classified more children with IBS, 53% vs. 18%. Parent and child questionnaire reports were not correlated. The normative diary classifications and parent questionnaire were the most congruent pair of methods (76% of cases). Conclusions Poor congruence among methods suggests that Rome III IBS criteria need better specification, and efforts to improve parent-child agreement are necessary.

Introduction Myasthenia gravis (MG) is an autoimmune disorder of the postsynaptic neuromuscular junction resulting in fatigability of voluntary muscles. There has been increasing evidence supporting thymectomy for MG in adults, and evidence for the role of surgery in pediatric age groups is increasing. The purpose of this study is to describe the outcomes of our patients with juvenile MG undergoing thoracoscopic thymectomy. Material and methods All patients with juvenile MG who underwent thoracoscopic thymectomy at Phoenix Children's Hospital between 1999 and 2014 were included. Patients were diagnosed by their treating neurologist. An Osserman and Genkins criterion was used to classify the severity of the disease and DeFilippi classification was used to assess remission. Results Twelve patients underwent thoracoscopic thymectomy for juvenile MG during the time frame studied. Nine (75%) patients had an Osserman stage of IIB, with only two patients with ocular disease. There were no conversions to an open procedure. Seven (59%) patients had normal thymic histology, 4 (33%) had evidence of follicular hyperplasia and one (8%) had involutional changes. The median length of hospital stay was 2days (range 1–5days). There was no 30-day postoperative morbidity, reoperations or mortality. The median length of follow-up was 31months (range, 4–91months) and at the time of their last follow-up; all 12 (100%) patients had a DeFilippi Classification of 3 or better. Conclusion Surgery for MG in children is indicated for antibody-receptor-positive patients with moderate to severe disease. Thoracoscopic thymectomy is a safe and acceptable treatment for juvenile MG with good disease control. The low morbidity and shorter hospital duration make it an excellent option for consideration.