Periprosthetic fractures are osteoporotic fractures: missed opportunities for osteoporosis diagnosis.

Joint replacement surgery is common in older adults, leading to increasing periprosthetic fracture (PPFx) occurrence. We reviewed all PPFx seen over a 4-year period at an academic hospital. Clinical osteoporosis could be diagnosed based on existing data in 104 (67%) at the time of PPFx. Periprosthetic fractures are generally osteoporosis-related. PURPOSE: Periprosthetic fractures (PPFx) cause morbidity, mortality, and cost. This study's purpose was to describe osteoporosis-related data available at the time of PPFx. METHODS: The electronic medical record (EMR) of PPFx patients seen over 4 years in a university orthopedic practice were reviewed. Demographic data and osteoporosis relevant parameters were collected. Prior DXA studies were reviewed, and L1 Hounsfield unit (HU) measurements were performed on CT scans obtained within 2 years before PPFx. Clinical osteoporosis was defined as prior diagnosis, prescribed osteoporosis treatment, T-score ≤ - 2.5, HU ≤ 100, or prior fracture. RESULTS: Records of 156 PPFx patients (115 F/41 M), mean (SD) age 75.4 (11.9), were reviewed. Almost all 153/156 (98%) of these fractures were femoral. Falls caused 139 (89%); 12 (8%) were spontaneous. Mean time post-arthroplasty was 7.9 (6.3) years. Prior fragility fracture(s) occurred in 72 (46%); 14 were PPFx. Osteoporosis was previously diagnosed in 45 (29%) and medications prescribed in 41 (26%). Prior to PPFx, DXA data were available in 62, mean (SD) lowest T-score was - 1.9 (0.9) and was ≤ - 2.5 in 19. CT data were available in 46; mean (SD) L1 HU was 79.0 (29.4) and was ≤ 100 in 35. Based on existing data, clinical osteoporosis could have been diagnosed in 104 (67%) at the time of PPFx. CONCLUSION: Periprosthetic fractures are osteoporosis-related. They occur in older adults, often female, and result from falls; BMD, when assessed, is low. Data available at the time of PPFx often allows osteoporosis diagnosis; this should prompt evaluation and pharmacologic treatment consideration.

Characterizing emergency department and inpatient health care utilization after seizure-related hospitalization: A retrospective cohort study.

OBJECTIVE: Seizure care is a significant driver of health care costs in both emergency department (ED) and inpatient settings, but the majority of studies have focused on inpatient admissions as the only metric of health care utilization. This study aims to better characterize ED and inpatient encounters among patients with seizure to inform care and policy. METHODS: Using statewide administrative data from the Healthcare Cost and Utilization Project State Inpatient Databases and State Emergency Department Databases from Florida and New York, we identified patients with a seizure-related index hospitalization between January 1, 2016, and December 31, 2018. Among this cohort, we examined the incidence and characteristics of subsequent acute care visits in the ED and inpatient settings for 365 days after initial hospital discharge. RESULTS: A total of 54 456 patients had an eligible seizure-related hospitalization. Patients were 49% female, predominantly White (64%) and non-Hispanic (84%), and used a public primary payer (68%). There were 36 838 (68%) patients with at least one acute care visit in the year following discharge. Overall, patients had a median of 2 (interquartile [IQR] = 1-5) subsequent acute care visits and the median time to first acute care visit was 53 days (IQR = 15-138). Of the 154 369 subsequent acute care visits, 97 399 (63%) were ED-only visits, 56 970 (37%) were readmissions, and 37 176 (24%) were seizure-related. There were 18 786 patients (35%) with four or more acute care visits over 365 days of follow-up. Patients with four or more visits contributed 84% of acute care visits and 78% of costs after initial hospitalization. SIGNIFICANCE: The majority of patients hospitalized for seizure return to the ED or hospital at least once in the year after discharge. A small portion of patients account for the majority of ED and inpatient visits as well as health care costs associated with this population, identifying a subgroup of patients who may benefit from improved inpatient and outpatient management.

A Multi-Modal Approach to Islet and Pancreas Transplantation With Calcineurin-Sparing Immunosuppression Maintains Long-Term Insulin Independence in Patients With Type I Diabetes.

Long-term success in beta-cell replacement remains limited by the toxic effects of calcineurin inhibitors (CNI) on beta-cells and renal function. We report a multi-modal approach including islet and pancreas-after-islet (PAI) transplant utilizing calcineurin-sparing immunosuppression. Ten consecutive non-uremic patients with Type 1 diabetes underwent islet transplant with immunosuppression based on belatacept (BELA; n = 5) or efalizumab (EFA; n = 5). Following islet failure, patients were considered for repeat islet infusion and/or PAI transplant. 70% of patients (four EFA, three BELA) maintained insulin independence at 10 years post-islet transplant, including four patients receiving a single islet infusion and three patients undergoing PAI transplant. 60% remain insulin independent at mean follow-up of 13.3 ± 1.1 years, including one patient 9 years after discontinuing all immunosuppression for adverse events, suggesting operational tolerance. All patients who underwent repeat islet transplant experienced graft failure. Overall, patients demonstrated preserved renal function, with a mild decrease in GFR from 76.5 ± 23.1 mL/min to 50.2 ± 27.1 mL/min (p = 0.192). Patients undergoing PAI showed the greatest degree of renal impairment following initiation of CNI (56% ± 18.7% decrease in GFR). In our series, repeat islet transplant is ineffective at maintaining long-term insulin independence. PAI results in durable insulin independence but is associated with impaired renal function secondary to CNI dependence.

Evaluating the efficacy of prototype antiseizure drugs using a preclinical pharmacokinetic approach.

OBJECTIVE: Pharmacokinetics (PK) of a drug drive its exposure, efficacy, and tolerability. A thorough preclinical PK assessment of antiseizure medications (ASMs) is therefore essential to evaluate the clinical potential. We tested protection against evoked seizures of prototype ASMs in conjunction with analysis of plasma and brain PK as a proof-of-principle study to enhance our understanding of drug efficacy and duration of action using rodent seizure models. METHODS: In vivo seizure protection assays were performed in adult male CF-1 mice and Sprague Dawley rats. Clobazam (CLB), N-desmethyl CLB (NCLB), carbamazepine (CBZ), CBZ-10,11-epoxide (CBZE), sodium valproate (VPA), and levetiracetam (LEV) concentrations were quantified in plasma and brain using liquid chromatography-tandem mass spectrometry. Mean concentrations of each analyte were calculated and used to determine PK parameters via noncompartmental analysis in Phoenix WinNonLin. RESULTS: NCLB concentrations were approximately 10-fold greater than CLB in mice. The antiseizure profile of CLB was partially sustained by NCLB in mice. CLB concentrations were lower in rats than in mice. CBZE plasma exposures were approximately 70% of CBZ in both mice and rats, likely contributing to the antiseizure effect of CBZ. VPA showed a relatively short half-life in both mice and rats, which correlated with a sharp decline in efficacy. LEV had a prolonged brain and plasma half-life, associated with a prolonged duration of action in mice. SIGNIFICANCE: The study demonstrates the utility of PK analyses for understanding the seizure protection time course in mice and rats. The data indicate that distinct PK profiles of ASMs between mice and rats likely drive differences in drug efficacy between rodent models.

Development of an antiseizure drug screening platform for Dravet syndrome at the NINDS contract site for the Epilepsy Therapy Screening Program.

OBJECTIVE: Dravet syndrome (DS) is a rare but catastrophic genetic epilepsy, with 80% of patients carrying a mutation in the SCN1A gene. Currently, no antiseizure drug (ASD) exists that adequately controls seizures. In the clinic, individuals with DS often present first with a febrile seizure and, subsequently, generalized tonic-clonic seizures that can continue throughout life. To facilitate the development of ASDs for DS, the contract site of the National Institute of Neurological Disorders and Stroke (NINDS) Epilepsy Therapy Screening Program (ETSP) has evaluated a mouse model of DS using the conditional knock-in Scn1aA1783V/WT mouse. METHODS: Survival rates and temperature thresholds for Scn1aA1783V/WT were determined. Prototype ASDs were administered via intraperitoneal injections at the time-to-peak effect, which was previously determined, prior to the induction of hyperthermia-induced seizures. ASDs were considered effective if they significantly increased the temperature at which Scn1aA1783V/WT mice had seizures. RESULTS: Approximately 50% of Scn1aA1783V/WT survive to adulthood and all have hyperthermia-induced seizures. The results suggest that hyperthermia-induced seizures in this model of DS are highly refractory to a battery of ASDs. Exceptions were clobazam, tiagabine, levetiracetam, and the combination of clobazam and valproic acid with add-on stiripentol, which elevated seizure thresholds. SIGNIFICANCE: Overall, the data demonstrate that the proposed model for DS is suitable for screening novel compounds for the ability to block hyperthermia-induced seizures and that heterozygous mice can be evaluated repeatedly over the course of several weeks, allowing for higher throughput screening.

Mediators of quality of life in brain injury.

PRIMARY OBJECTIVE: This study examined the mediating role of perceived social support and mastery on quality of life (QOL) among adults with brain injury. RESEARCH DESIGN: An a priori structural model hypothesizing the relationships among symptom severity, mastery, social support, and QOL variables were tested. METHODS AND PROCEDURES: Individuals with brain injury across the United States participated in an online survey (N = 183). Structural equation modeling (SEM) was used to examine the model fit. MAIN OUTCOMES AND RESULTS: The model fit the data well (χ2(15) = 13.68). The Normed Bentler-Bonnet Fit Index (NFI) was.97; Goodness-of-Fit Statistic (GFI) was .98; Adjusted-Goodness-of-Fit (AGFI) was.96; and the Comparative Fit Index (CFI) was 1.00. The direct effects supported all expected relationships among the study variables. Social support and mastery fully mediated the relationship between symptom severity and QOL. Mastery partially mediated the relationship between social support and QOL. CONCLUSIONS: These findings underscore the importance of incorporating psychosocial factors into interventions, with attention on increasing levels of perceived social support and mastery skills to foster greater QOL.

Validation of a Preclinical Drug Screening Platform for Pharmacoresistant Epilepsy.

The successful identification of promising investigational therapies for the treatment of epilepsy can be credited to the use of numerous animal models of seizure and epilepsy for over 80 years. In this time, the maximal electroshock test in mice and rats, the subcutaneous pentylenetetrazol test in mice and rats, and more recently the 6 Hz assay in mice, have been utilized as primary models of electrically or chemically-evoked seizures in neurologically intact rodents. In addition, rodent kindling models, in which chronic network hyperexcitability has developed, have been used to identify new agents. It is clear that this traditional screening approach has greatly expanded the number of marketed drugs available to manage the symptomatic seizures associated with epilepsy. In spite of the numerous antiseizure drugs (ASDs) on the market today, the fact remains that nearly 30% of patients are resistant to these currently available medications. To address this unmet medical need, the National Institute of Neurological Disorders and Stroke (NINDS) Epilepsy Therapy Screening Program (ETSP) revised its approach to the early evaluation of investigational agents for the treatment of epilepsy in 2015 to include a focus on preclinical approaches to model pharmacoresistant seizures. This present report highlights the in vivo and in vitro findings associated with the initial pharmacological validation of this testing approach using a number of mechanistically diverse, commercially available antiseizure drugs, as well as several probe compounds that are of potential mechanistic interest to the clinical management of epilepsy.

Evolution of technique in performance of minimally invasive colectomies.

BACKGROUND: Hand-assisted laparoscopic surgery is commonly used in colorectal surgery and provides benefit in complex cases. OBJECTIVE: This study examined the minimally invasive surgical trends, patient characteristics, and operative variables unique to patients undergoing hand-assisted laparoscopic surgery. DESIGN: This was a retrospective medical chart review. SETTINGS: The study was conducted in a tertiary care medical center. PATIENTS: Patients included in the study were those who underwent pure laparoscopic colectomies, hand-assisted laparoscopic colectomies, and traditional open surgery for elective treatment of diverticular disease, colorectal cancer, IBD, and benign polyp disease. MAIN OUTCOME MEASURES: Primary outcomes included patient characteristics and operative variables unique to patients undergoing hand-assisted laparoscopic surgery and documentation of operative technique trends within an experienced colorectal group. RESULTS: Diverticular disease characteristics specific to hand-assisted laparoscopic surgery included the presence of dense inflammatory adhesions (p < 0.0001), diverticular fistulas (p < 0.0001), and unresolved phlegmon (p = 0.0003). Characteristics specific for colorectal cancer included intraoperative tumor bulk (p < 0.0001) and the inability to achieve appropriate surgical resection margins (p < 0.001). Similarly, variables identified for benign polyp disease included adhesions (p < 0.0001) and the ability to gain adequate exposure (p < 0.0001). Limited use of hand-assisted laparoscopic surgery was observed in patients with IBD. LIMITATIONS: This was a retrospective, observational study from a single center. CONCLUSIONS: Conversion to hand-assisted laparoscopic surgery provides benefit in surgical scenarios where dense inflammatory adhesions, diverticular fistulas, and intra-abdominal postdiverticulitis phlegmon are present. In addition, benefit is observed in patients with colorectal cancer where laparoscopic dissection of bulky tumor proves to be difficult and where the technical ability to obtain margins using pure laparoscopy is compromised. Although our practice has changed to favor pure laparoscopy, hand-assisted laparoscopic surgery continues to play an important role in complex colorectal cases that otherwise would require open surgery (see video, Supplemental Digital Content 1, http://links.lww.com/DCR/A146).

Brief Report: Quantifying Speech Production Coordination from Non- and Minimally-Speaking Individuals.

PURPOSE: Non-verbal utterances are an important tool of communication for individuals who are non- or minimally-speaking. While these utterances are typically understood by caregivers, they can be challenging to interpret by their larger community. To date, there has been little work done to detect and characterize the vocalizations produced by non- or minimally-speaking individuals. This paper aims to characterize five categories of utterances across a set of 7 non- or minimally-speaking individuals. METHODS: The characterization is accomplished using a correlation structure methodology, acting as a proxy measurement for motor coordination, to localize similarities and differences to specific speech production systems. RESULTS: We specifically find that frustrated and dysregulated utterances show similar correlation structure outputs, especially when compared to self-talk, request, and delighted utterances. We additionally witness higher complexity of coordination between articulatory and respiratory subsystems and lower complexity of coordination between laryngeal and respiratory subsystems in frustration and dysregulation as compared to self-talk, request, and delight. Finally, we observe lower complexity of coordination across all three speech subsystems in the request utterances as compared to self-talk and delight. CONCLUSION: The insights from this work aid in understanding of the modifications made by non- or minimally-speaking individuals to accomplish specific goals in non-verbal communication.

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.

BACKGROUND: Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals with PMS also have epilepsy or seizures, with a wide range of types and ages of onset. Investigating the impact of seizures on intellectual and adaptive functioning for PMS is a primary concern for caregivers and is important to understanding the natural history of this syndrome. METHODS: We report on results from 98 individuals enrolled in a prospective, longitudinal study. We detailed seizure frequency, type, and age of onset, and we analyzed seizure occurrence with best estimate IQ, adaptive functioning, clinical features, and genotype. We conducted multiple linear regression analyses to assess the relationship between the presence of seizures and the Vineland Adaptive Behavior Scale, Second Edition (VABS-II) Adaptive Behavior Composite score and the best estimate full-scale IQ. We also performed Chi-square tests to explore associations between seizure prevalence and genetic groupings. Finally, we performed Chi-square tests and t-tests to explore the relationship between seizures and demographic features, features that manifest in infancy, and medical features. RESULTS: Seizures were present in 41% of the cohort, and age of onset was widely variable. The presence of seizures was associated with significantly lower adaptive and intellectual functioning. Genotype-phenotype analyses were discrepant, with no differences in seizure prevalence across genetic classes, but with more genes included in deletions of participants with 22q13 deletions and seizures compared to those with 22q13 deletions and no seizures. No clinical associations were found between the presence of seizures and sex, history of pre- or neonatal complications, early infancy, or medical features. In this cohort, generalized seizures were associated with developmental regression, which is a top concern for PMS caregivers. CONCLUSIONS: These results begin to eludicate correlates of seizures in individuals with PMS and highlight the importance of early seizure management. Importantly, presence of seizures was associated with adaptive and cognitive functioning. A larger cohort might be able to identify additional associations with medical features. Genetic findings suggest an increased capability to realize genotype-phenotype relationships when deletion size is taken into account.

Preferences in Clinical Care of Individuals With Differences of Sex Development.

OBJECTIVES: To identify the most important attributes related to the process of achieving, and outcomes associated with, successful care for differences of sex development (DSD). METHODS: We developed a best-worst scaling survey administered to 520 DSD stakeholders, including individuals or family members of those with DSD, health care specialists, and patient support and advocacy representatives. Fourteen process-related attributes and 16 outcome-related attributes were identified through qualitative research. We estimated relative importance scores and coefficients from regression analysis to understand the relative importance of attributes and conducted latent class analysis to explore heterogeneity in preferences. RESULTS: The 3 most important process attributes were (1) good communication between care team and patient/family, (2) care team educated patient/family about condition, and (3) care team incorporates the values of patient/family. The 3 most important outcome attributes were (1) patient satisfaction, (2) patient mental health, and (3) treatment maintains physical health. Latent class analyses showed that respondents had heterogeneous preferences. For process-related attributes, we identified 3 respondent groups: "Patient autonomy and support" (46% of respondents), "Education and care transitions" (18%), and "Shared decision-making" (36%). For outcome-related attributes, we identified 2 respondent groups: "Preserving function and appearance" (59% of respondents) and "Patient health and satisfaction" (41%). CONCLUSIONS: Outcomes such as patient satisfaction and health were the most important outcome attributes, and good communication and education from the care team were the most important process attributes. Respondents expressed heterogeneous preferences for selected DSD care attributes that providers should consider to improve satisfaction with and quality of DSD care.

ReCANVo: A database of real-world communicative and affective nonverbal vocalizations.

Nonverbal vocalizations, such as sighs, grunts, and yells, are informative expressions within typical verbal speech. Likewise, individuals who produce 0-10 spoken words or word approximations ("minimally speaking" individuals) convey rich affective and communicative information through nonverbal vocalizations even without verbal speech. Yet, despite their rich content, little to no data exists on the vocal expressions of this population. Here, we present ReCANVo: Real-World Communicative and Affective Nonverbal Vocalizations - a novel dataset of non-speech vocalizations labeled by function from minimally speaking individuals. The ReCANVo database contains over 7000 vocalizations spanning communicative and affective functions from eight minimally speaking individuals, along with communication profiles for each participant. Vocalizations were recorded in real-world settings and labeled in real-time by a close family member who knew the communicator well and had access to contextual information while labeling. ReCANVo is a novel database of nonverbal vocalizations from minimally speaking individuals, the largest available dataset of nonverbal vocalizations, and one of the only affective speech datasets collected amidst daily life across contexts.

When the Brain Cares: Personal interests amplify engagement of language, self-reference, and reward regions in the brains of children with and without autism.

Human language is shaped by individual experiences and interests. However, to study language in the brain, researchers use generic stimuli, avoiding the variable personal interests that typically animate language. Thus, it is unknown how personal interests affect language function in the brain. We conducted personalized functional magnetic resonance imaging (fMRI) in 20 typically-developing children as they listened to personalized narratives about their specific interest and non-personalized, generic narratives. Personally-interesting narratives amplified engagement of language regions, producing more consistent activation patterns across individuals - even though each narrative was unique - than the generic narratives. The personalized narratives also engaged self-reference and reward areas of the brain associated with motivation. Amplification of brain responses to personally-interesting narratives was also observed in 15 autistic children, a condition characterized by both intense specific interests and difficulties with communication. Here we show that personal interests significantly affect language processing in the human brain.

Information sharing in differences of sex development: The creation of a caregiver-support tool.

INTRODUCTION: 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. METHOD: 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. RESULTS: 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. DISCUSSION: 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) 2023 APA, all rights reserved).

Mortality Rates After Nonoperative Geriatric Hip Fracture Treatment: A Matched Cohort Analysis.

OBJECTIVE: To compare the mortality rate between geriatric patients with hip fracture treated nonoperatively and a matched cohort treated operatively. DESIGN: Retrospective Observational Matched Cohort Study. SETTING: Academic Level 1 Trauma Center. PATIENTS: Geriatric patients who sustained femoral neck and intertrochanteric/peritrochanteric fractures, excluding isolated greater trochanteric fractures. All patients older than 65 years with hip fractures over a 10-year period were identified. Operative patients were matched at a 2:1 ratio, when possible, to nonoperative patients based on Charlson Comorbidity Index and American Society of Anesthesiologists score. INTERVENTION: Nonoperative treatment or operative treatment (femoral neck fractures: cannulated screw fixation or hemiarthroplasty; intertrochanteric/peritrochanteric fractures: sliding hip screw or cephalomedullary nail fixation; or proximal femoral locking plate). MAIN OUTCOMES: Mortality calculated at 30 and 90 days, and 1-year after injury. Mortality was compared between groups using logistic regression while controlling for age, CVA/TIA, and dementia. RESULTS: Seven hundred seventy-two patients (171 nonoperative and 601 operative) were initially identified. After applying the matching algorithm, 128 nonoperative and 239 operative patients were included in the analysis. There were no significant differences in age, sex, Charlson Comorbidity Index, or American Society of Anesthesiologists score between the cohorts. Nonoperative patients had a significantly higher 1-year mortality rate than operative patients [46.1% vs. 18.0%, Odds Ratio (95% confidence interval): 3.85 (2.34-6.41), P < 0.001]. CONCLUSIONS: Geriatric patients with hip fracture treated nonoperatively had a 1-year mortality rate of 46.1%, more than double the rate among operative patients. LEVEL OF EVIDENCE: Therapeutic Level III. See Instructions for Authors for a complete description of levels of evidence.

Surgical Decision-Making for Individuals with Differences of Sex Development: Stakeholders' views.

Introduction: Advocacy 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. Methods: Stakeholders (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." Results: Several 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. Conclusion: DSD 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.

A survey of healthcare professionals' perceptions of the decisional needs of parents with an infant born with a disorder/difference of sex development.

INTRODUCTION: Parents of infants born with differences in sex development (DSD) face many difficult decisions. As part of a larger project designed to develop educational interventions to promote shared decision making, this study assessed healthcare professionals' (HCPs) perceptions of parental decision-making needs when an infant is born with a DSD. METHODS: A cross-sectional web-based survey following the Ottawa Decision Support Framework was conducted in two waves, between October 2020 and June 2022. Survey domains included: common DSD decisions, indicators of parents' decisional needs, and resources and approaches to support parental decision making. Eligible participants were HCPs working within interprofessional pediatric DSD centers in the USA. Up to three reminders were sent. Descriptive analysis was conducted. RESULTS: 71 HCPs participated; most (>90%) reported parents experience signs of decisional conflict including feeling unsure, worrying about what could go wrong, and fear of choosing a "wrong," irreversible option. The majority (90%) reported parents experience strong emotions interfering with their receptivity to information or deliberation. The majority (>70%) identified inadequate parental knowledge of the DSD as a barrier to decision making, coupled with information overload (>90%). HCPs rated several factors as "very" important, including: parents having information on benefits, harms, and other features of options (93%), having information about all the available options (87%), and having access to providers to discuss the options (84%). Providers endorsed using a variety of approaches to support parents' decision making; however, access to decision aids was not universally rated as highly important (very, 44%; somewhat, 46%; a little, 10%). IMPLICATIONS: Overall, HCPs expressed favorable attitudes toward supporting active parental participation in medical decision making. Opportunities for enhanced support of shared decision making included: a) recognizing and addressing parental emotional distress and informational overload at a time when parents need to consider complex options for their infant or young child; and b) the need for HCPs to encourage values clarification in decision-making encounters with parents.

"It became easier once I knew": Stakeholder perspectives for educating children and teenagers about their difference of sex development.

OBJECTIVE: Secrecy about a child's difference of sex development (DSD) can lead to internalized shame and stigma. We explored how teenagers and adults with DSD, parents, healthcare providers, and allied professionals value and perceive patient education. METHODS: Stakeholders (n = 110) completed qualitative semi-structured interviews. Relevant themes for educational content were queried and organized. RESULTS: Education was consistently identified as essential to successful outcomes. There was less consistency in how to educate patients. Disagreement existed regarding who should champion the education process. Participants believed medically relevant information should be shared gradually with attention to developmental capacity. Details were lacking regarding how much or what information to share. Participants noted that vetted resources were helpful. Benefits of sharing condition-specific information with patients included supporting their psychosocial development. Barriers included parental resistance to sharing information due to shame/stigma, and cultural and/or family dynamics. CONCLUSIONS: Stakeholders' different perspectives regarding patient DSD education warrant future research to focus on the design, evaluation, and implementation of education-focused interventions. PRACTICE IMPLICATIONS: Healthcare providers are responsible for supporting the education of children and teenagers with DSD about their condition. When considering barriers, adopting a cultural or family systems framework can reduce parental resistance and promote open dialogue.

Decisional Support Needed when Facing Tough Decisions: Survey of Parents with Children having Differences of Sex Development.

Introduction: Parents 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. Methods: 34 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. Results: Decisions 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. Discussion: Parents 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.