Parents of Children With Newly Diagnosed Disorders of Sex Development Identify Major Concerns: A Qualitative Study.

OBJECTIVES: To develop a conceptual framework to understand and define the impact of DSD diagnosis and management from the perspective of parents of recently diagnosed children. METHODS: Semi-structured interviews were conducted with parents of children diagnosed with 46 XX, 46 XY, or chromosomal DSD including complete or partial androgen insensitivity, congenital adrenal hyperplasia, or 5-alpha reductase deficiency. Analysis was completed using content analysis with an inductive approach by three coders. RESULTS: Parents of 6 patients agreed to be interviewed, consistent with saturation points for prior similar studies; a total of 16 recurring themes were identified which were further grouped by similarity and categorized into 1 of 3 meta-themes: a) personal impact (effect of diagnosis on parents psyche, happiness, gender/sexual identity, anatomic function, mental health), b) family impact (relationships with parents/siblings, parental guilt); and c) societal impact (bullying, need for secrecy, future desirability, societal openness to DSD individuals). CONCLUSIONS: Personal, family, and societal concerns amongst parents following a DSD diagnosis have significant potential psychosocial impacts for both parents as well children. The nexus between these categories provides a framework for approaching diagnosis and management of DSD and has implications for patients, families, and clinicians. Improved resource allocation, education, and clinical tools conceived through this framework may considerably alleviate potent psychosocial stressors for parents of children born with DSD.

Community perspectives on difference of sex development (DSD) diagnoses: A crowdsourced survey.

INTRODUCTION AND OBJECTIVES: Differences of sex development (DSD) engender ethical, social and psychosexual complexities that can complicate medical decision-making. We performed a web-based pilot study to estimate the utility value of a DSD diagnosis and to identify community concerns regarding DSD management. METHODS: A cross-sectional survey was posted on Amazon's Mechanical Turk, an online crowdsourcing platform. Respondents were ≥18y and were randomized to receive information on one of three common DSD conditions: Congenital Adrenal Hyperplasia (CAH), Mixed Gonadal Dysgenesis (MGD), and Partial Androgen Insensitivity Syndrome (PAIS). Time trade-off methodology was used to estimate utility values. Likert scale and statement-ranking questions were used to assess respondent perceptions. RESULTS: Of 1,628 respondents, median age was 34y; most respondents were parents (59.1%), white (77.1%), and previously unfamiliar with DSD (60.4%). The median overall utility value was 0.70 (IQR 0.50-0.90), similar to moderately severe chronic health conditions. Utility estimates varied based on the DSD scenario presented (0.80 CAH vs. 0.70 MGD vs. 0.80 PAIS, p = 0.0006), respondent gender (p < 0.0001), race (p = 0.002), religion (p = 0.005), and prior knowledge of DSD (p < 0.0001). Reported concerns included gender identity (23.4%), urinary function (20.5%) and surgical complications (17.4%). Most (67.5%) supported early surgical intervention at 6-18 mo; 10.4% thought surgery should occur ≥18 y. COMMENT: Limitations of this study include that survey participants were aware of the nature of the study, thus some respondents may have participated to skew the results. Given the nature of this pilot study, the representation of families with children with DSD within the study is severely limited given the rarity of DSDs. This means that their opinions may be diluted by the large sample size. However, because utility values are classically estimated according to community opinions, the utility data presented should be taken to reflect that of the specific sample studied and is not reflective of that of families with a vested interest in such cases. CONCLUSIONS: Community-based respondents perceived that DSD conditions were associated with a reduction in utility values (0.70-0.80), on par with moderately severe chronic health conditions. Estimates varied based on respondents' gender, race, religion and prior knowledge of DSD. Gender identity was the most concerning aspect for respondents.

Hospital and ED charges for spina bifida care in the United States between 2006 and 2014: Over $2 billion annually.

BACKGROUND: More children with spina bifida (SB) are surviving into adulthood. Unfortunately, little data exist regarding the economic implications of modern SB care. OBJECTIVE: We examined economic data from two national databases to estimate the annual nationwide hospital and emergency charges of SB from 2006-14. METHODS: We analyzed the 2006-2014 Nationwide Inpatient Sample (NIS) and Nationwide Emergency Department Sample (NEDS). SB patients were defined using ICD-9-CM codes. Demographic and charge data were obtained from each database. Multiple imputation was used to estimate missing data (1.6% for NIS and 22% in NEDS). The principal outcomes were mean, median, and total charges for encounters each year. RESULTS: There were 725,646 encounters for individuals with SB between 2006 and 2014. The average age of captured SB patients who were admitted to a hospital or seen in an ER was 29 years. In 2014, the median charge for inpatient encounters was $31,071 (IQR: $15,947, $63,063) and for ER encounters was $2407.02 (IQR: $1321.91, $4211.35). In total, the sum of charges from all SB-related admissions in 2014 was $1,862,016,217 (95% CI: $1.69 billion, $2.03 billion), while the sum of charges of all SB-related ER encounters in 2014 was $176,843,522 (95% CI: $158 million, $196 million). There was a steady increase in charges over the study period. CONCLUSION: Charges for SB-related inpatient and emergency care in the US in 2014 was in excess of $2 billion in contrast to $1.2 billion in 2006, after adjusting for inflation; this is an impressively high figure for a relatively small number of patients.

Partial and radical nephrectomy in children, adolescents, and young adults: Equivalent readmissions and postoperative complications.

OBJECTIVES: To compare and contrast the use of partial nephrectomy (PN) and radical nephrectomy (RN) in pediatric malignant renal tumors using a nationally representative database. METHODS: The 2010-2014 Nationwide Readmissions Database (NRD) was used to obtain PN and RN select postoperative data. ICD-9-CM codes were used to identify children (<10 years), adolescents (10-19 years) and young adults (20-30 years) diagnosed with malignant renal tumors who were treated with a PN or RN. The presence of a 30-day readmission, occurrence of postoperative complications, cost, and length of stay (LOS) were studied and weighted logistic regression models were fit to test for associations. RESULTS: There were 4330 weighted encounters (1289 PNs, 3041 RNs) that met inclusion criteria: 50.8% were children, 7.2% were adolescents, and 42% were young adults. Young adults had the highest rates of PN, whereas children had the highest rates of RN (p < 0.0001). Overall, no evidence was found to suggest a difference in odds between surgical modality and the presence of a 30-day readmission or postoperative complication. While PN was on average $9000 cheaper compared to RN overall, its cost was similar to that of RN for children. Similarly, PN patients had a shorter overall LOS compared to RN patients, but their LOS was similar to that of children who underwent RN. CONCLUSION: There was no evidence of a difference in odds between RN and PN in terms of postoperative readmissions or in-hospital complication rates. Additionally, we observed descriptive differences in both cost and LOS between the surgical modalities across age groups. TYPE OF STUDY: Retrospective comparative study (administrative database analysis). LEVEL OF EVIDENCE: Level III.