Neuropsychological and mental health concerns in a multicenter clinical sample of youth with turner syndrome.

Clinical practice guidelines for individuals with Turner syndrome (TS) recommend screening for neuropsychological concerns (NC) and mental health concerns (MHC). However, current provider screening and referral patterns for NC and MHC are not well characterized. Additionally, prevalence of and risk factors for NC and MHC vary across studies. This multicenter chart review study examined the prevalence, risk factors for, and management of NC and MHC in a cohort of 631 patients with TS from three pediatric academic medical centers. NC and/or MHC were documented for 48.2% of patients. Neuropsychological evaluation recommendations were documented for 33.9% of patients; 65.4% of the sample subsequently completed these evaluations. Mental health care recommendations were documented in 35.0% of records; subsequent documentation indicated that 69.7% of these patients received such services. Most notably, rates of documented MHC, NC, and related referrals differed significantly by site, suggesting the need for standardized screening and referral practices. TS diagnosis in early childhood was associated with an increased risk of NC. Spontaneous menarche was associated with increased risk of MHC. Younger age at growth hormone initiation was associated with both increased risk of isolated NC and co-occurring NC and MHC. Mosaic karyotype was associated with decreased risk of NC and MHC.

Surgical experiences in adolescents and young adults with differences of sex development: A qualitative examination.

BACKGROUND: Surgical intervention in youth with differences of sex development (DSD) is a controversial topic. Historically, evidence suggests that genital surgery in DSD is associated with mixed patient satisfaction. However, less is known about surgical outcomes under therapeutic advancements in the past several decades. OBJECTIVE: The purpose of the current study is to provide an updated and empirical qualitative examination of the surgical experiences and responses to care of adolescents and young adults (AYA) with DSD in order to fill this gap in the literature and inform patient care. METHODS: Qualitative interviews were conducted with 37 AYA (ages 12-26) with DSD. Interviews were transcribed, coded, and analyzed thematically. RESULTS: Three major themes were identified: 1) knowledge related to surgery; 2) surgical and medical experience; and 3) psychosocial factors related to surgery. Results demonstrated that most AYA were not involved in the decision to pursue surgery and were observed to have varying levels of knowledge regarding their surgeries. Most participants in the current study had received a DSD-related surgery and the majority described having positive surgical experiences and few regrets. Nonetheless, AYA described both medical and psychosocial challenges related to their surgeries and recoveries and offered feedback on ways to improve the surgical process. DISCUSSION: The current study provides a qualitative examination of the surgical experiences of 37 AYA with DSD. Findings highlight the importance of regular and ongoing communication with providers to improve knowledge related to surgery during the decision-making process as well as after surgical intervention. Results underscore the benefits of multidisciplinary teams and the value of patient handouts and decision aids in assisting AYA in the decision to pursue surgical intervention. Other specific recommendations for providers include increased patient privacy during genital exams, greater emphasis on psychoeducation and pain management strategies, and the use of behavioral health services to assist with challenges and social support. CONCLUSIONS: The decision to pursue surgical intervention in youth with DSD remains a complex and controversial issue, and more information regarding patients' perspectives on surgery is needed. The current study provides novel insights into patient experiences of surgical intervention and highlights the need for psychosocial support throughout the shared decision-making process.

Body Image Dissatisfaction, Breastfeeding Experiences, and Self-Efficacy in Postpartum Women with and Without Eating Disorder Symptoms.

BACKGROUND: Women during the postpartum period undergo significant changes which affect body image, eating behaviors, and, potentially, breastfeeding. There is limited research about relationships among these variables, particularly related to breastfeeding experiences and self-efficacy. RESEARCH AIMS: To determine: (1) the associations between eating disorder symptoms and body image, breastfeeding self-efficacy, and breastfeeding experiences; and (2) the differences in body image, breastfeeding self-efficacy, breastfeeding experiences, and breastfeeding status of postpartum women with and without clinically significant eating disorder symptoms. METHODS: A secondary data analysis using a 2-group correlational, cross-sectional online survey design was used. Participants with infants 2-6 months old who had breastfed their infant at least once (N = 204) were recruited nationally to complete a cross-sectional survey assessing breastfeeding and postpartum physical and mental health using validated measures. Linear and logistic regression evaluated differences between participants with and without eating disorder symptoms regarding their body image, breastfeeding experience and self-efficacy, and breastfeeding status (continued vs. discontinued) at 2 months postpartum. RESULTS: Clinical eating disorder symptoms were reported by 9.8% (n = 20). Participants with clinical eating disorder symptoms reported lower appearance evaluations (B = -0.53, 95% CI [-0.93, -0.14]) and body image satisfaction (B = -0.55, 95% CI [-0.87, -0.23]); reduced odds of breastfeeding at 2 months postpartum (AOR = 0.15, 95% CI [0.04, 0.56]); and lower breastfeeding self-efficacy (B = -7.70, 95% CI [-14.82, -0.58] relative to participants without clinical symptoms. No differences between groups were observed for breastfeeding experiences. CONCLUSIONS: Participants with clinically significant eating disorder symptoms are at risk for early breastfeeding discontinuation and lower breastfeeding self-efficacy. Our findings have implications for future research and clinical care practices, including screening for body image concerns and eating disorder symptoms and supporting breastfeeding self-efficacy.

Improving Psychosocial Risk Assessment and Service Provision for Craniofacial Team Patients: A Quality Improvement Project.

To improve psychosocial risk assessment and service provision for children with craniofacial conditions presenting for annual interdisciplinary team visits.Institute for Healthcare quality improvement model.U.S. pediatric academic medical center.Caregivers of children ages 0-17 years with craniofacial conditions presenting for 1692 team visits between August 2017 and July 2019.Key drivers included: (1) standardizing pre-visit triage processes; (2) administering the Psychosocial Assessment Tool-Craniofacial Version (PAT-CV); (3) utilizing PAT-CV scores in real time to add patients to psychosocial provider schedules; and (4) family education. Interventions included improving patient screening, increasing PAT-CV completion rate, altering clinic flow, providing patient and parent education about psychosocial services, and altering team member roles to fully integrate PAT-CV administration and scoring in the clinic.The primary outcome was the percentage of patients identified for psychosocial consultations via nurse triage, PAT-CV score, family or provider request who completed consultations. The secondary outcome was the percentage of patients completing needed psychosocial consultations based on elevated PAT-CV scores.Use of the PAT-CV resulted in an increase in the percentage of patients with elevated psychosocial risk who received a psychosocial consultation from 86.7% to 93.4%. The percentage of children receiving psychosocial consultation at their annual team visit due to elevated PAT-CV scores increased from 72% to 90%.Integrating a validated psychosocial risk screening instrument can improve risk identification and psychosocial consultation completion. A combination of risk screening approaches may be indicated to identify patients in need of psychosocial services.

Fertility Discussions: Perspectives of Adolescents and Young Adults With Differences of Sex Development.

Objective: Fertility-related health care and decision-making needs for youth with differences of sex development (DSD) are complex and vary by condition and the values and preferences of each individual and their partner and/or family. Discussing fertility implications can be a challenging aspect of clinician and family communication about a DSD diagnosis. This qualitative study assesses fertility-related communication experiences of adolescents and young adults (AYA) with DSD. Method: Participants included 97 AYA with DSD ages 12-26 years (M = 18.5, SD = 3.9) who completed questionnaires on demographic and medical information and patient-clinician communication. A subsample of 33 AYA also completed semistructured interviews about experiences with fertility discussions. Results: Two major themes, each with subthemes, were identified: (1) understanding of fertility related to (1a) one's own fertility status, (1b) reproductive and parenting options, and (1c) emotional reactions to one's own fertility status and (2) conversations about fertility related to (2a) reflections on conversations, (2b) barriers, and (2c) advice. Conclusions: AYA perspectives in this study provide important information about how youth with DSD learn about their fertility status, the impact their fertility status has on them, and the fertility-related conversations they have with their providers and families. Specific recommendations for providers and parents or caregivers include the following: inform youth of their fertility status as early as possible; be direct but patient in delivering information; begin by giving basic information and provide more detail as the conversation unfolds; revisit the conversation over time to allow for further discussion or information-seeking; offer additional information or resources, including behavioral health resources.

Psychosocial Functioning Among Children With and Without Differences of Sex Development.

OBJECTIVE: To assess health-related quality of life (HRQoL), psychosocial adjustment, and family functioning of children with differences of sex development (DSD) or cleft lip and/or palate (CL/P). METHODS: In this cross-sectional study, parents of children with DSD (n = 67), CL/P (n = 121), and a comparison group of unaffected youth (n = 126) completed standardized measures assessing family functioning and their children's HRQoL and psychosocial adjustment. Medical charts were abstracted for youth with either congenital condition. RESULTS: Children with DSD were rated as having significantly lower HRQoL and greater internalizing problems compared to youth with CL/P and unaffected youth. Children in the DSD group were also significantly more likely to fall into the clinical risk categories for total and internalizing problems relative to the CL/P and unaffected groups. Caregivers of children with DSD were significantly more likely to endorse items about child suicidality compared with caregivers in the CL/P and unaffected groups. No significant differences were found between groups for externalizing problems or the expressiveness domain of family functioning; parents of children with DSD reported significantly less family conflict relative to the other groups and greater cohesion relative to the unaffected group. Conclusions Youth with DSD appear to be at greater risk for psychosocial problems relative to children with CL/P and unaffected peers. Results underscore the need for integrated interdisciplinary care and ongoing psychosocial risk monitoring in youth with DSD.

Patient and Caregiver Attitudes toward Disorders of Sex Development Nomenclature.

PURPOSE: The medical terminology applied to differences/disorders of sex development has been viewed negatively by some affected individuals. A clinical population of patients with differences/disorders of sex development and their caregivers were surveyed regarding current nomenclature, hypothesizing that those unaffiliated with support groups would have more favorable attitudes. MATERIALS AND METHODS: We recruited English and Spanish speaking patients 13 years old or older with differences/disorders of sex development and their caregivers at 5 national tertiary care clinics from July 2016 to December 2018. No diagnoses were excluded. Participants completed a survey rating terminology commonly applied to differences/disorders of sex development. Responses were compared between subgroups, including members vs nonmembers of a support group. RESULTS: Of 185 potential participants approached 133 completed the survey (72% response rate). Congenital adrenal hyperplasia (33%) was the most common diagnosis. "Variation of sex development" was the most liked term (37%) but was not liked more significantly than "disorders of sex development" (27%, p=0.16). No term was liked by a majority of respondents. "Disorders of sex development" (37%) and "intersex" (53%) were the only terms most frequently viewed unfavorably. Support group members were significantly more likely to dislike the term "intersex" (p=0.02) and to like "variation of sex development" (p=0.02). CONCLUSIONS: A clinical population of patients and their caregivers had generally neutral attitudes toward nomenclature applied to differences/disorders of sex development. Members of a support group had clearer terminology preferences. "Variation of sex development" was the most liked term, and "disorders of sex development" and "intersex" were the most disliked. No term was liked by most respondents, and no clear alternative to the present nomenclature was identified.

Fertility counseling and preservation discussions for females with Turner syndrome in pediatric centers: practice patterns and predictors.

OBJECTIVE: To examine fertility counseling and fertility preservation (FP) referrals for young women with Turner syndrome (TS) at pediatric centers and identify possible associations with patient demographic and medical characteristics. DESIGN: Retrospective medical record review. SETTING: Pediatric academic medical centers. PATIENT(S): Four hundred and sixty-nine young women with TS (mean age = 14 years, standard deviation 8.5 years; 77% white) who received care between March 2013 and March 2018. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Standardized form to abstract demographics, medical (karyotype; menarchal status; developmental, neuropsychological, and psychological concerns), and treatment characteristics (duration of care, receipt of multidisciplinary care, documentation of fertility/pregnancy counseling, FP specialist referrals) from medical records. RESULT(S): We found that 67% of families had documented fertility counseling, although only 27% of charts documented counseling with patients specifically. Only 10% of patients were referred to a FP specialist; 59% of patients with spontaneous menarche had no referral. Pregnancy risk counseling was documented in 38% of charts. In multivariate analyses, families were more likely to receive counseling if the patients had multidisciplinary care (adjusted odds ratio [AOR] 2.82). Greater duration of care (AOR 1.16); mosaic (AOR 47.94), complex (AOR 14.59), or partial deletions karyotypes (AOR 35.69); spontaneous menarche (AOR 4.65); and multidisciplinary care (AOR 4.02) had increased odds of FP specialist referrals. Patients with developmental concerns (AOR 0.08) had decreased odds of referrals. CONCLUSION(S): Fertility and pregnancy counseling are not routinely documented among patients with TS, and even patients with a limited window of reproductive potential were infrequently referred to FP specialists. Patients seen in multidisciplinary clinics were more likely to receive recommended counseling.

Adherence to Orthodontic Treatment in Youth With Craniofacial Conditions: A Survey of US Orthodontists.

OBJECTIVE: (1) To explore orthodontists' perceptions of nonadherence and related factors in their patients with craniofacial conditions; (2) to examine differences in adherence perceptions by provider characteristics; (3) to evaluate current adherence interventions. DESIGN: Cross-sectional. SETTING: United States-based orthodontists affiliated with a nonprofit association for providers treating oral cleft and craniofacial conditions received survey invitations via list-serv, e-mail, and social media. PARTICIPANTS: Thirty-eight orthodontists participated (mean age = 50.5 ± 10.7 years; 76% Caucasian; 55% male; 54% private practice). MAIN OUTCOME MEASURE: An 80-item survey assessed demographic characteristics; frequencies of various adherence problems and adherence-related prolonged or terminated treatment; importance of adherence to treatment outcomes; factors that may impact adherence; interest in improving adherence; and use of adherence-enhancing interventions. RESULTS: Adherence problems were common, yet 80.6% of participants rated adherence as "very important" to cleft treatment outcomes. Child behavior and motivation, caregiver reinforcement of behavior, and provider communication with the family were identified as factors that greatly impact adherence. Orthodontists in university-affiliated programs were more likely to rate individual, family, health-care system, and community factors as impacting adherence compared to private practice orthodontists; 80.6% used adherence interventions; these strategies were all rated as "sometimes successful." CONCLUSIONS: Nonadherence to cleft lip/palate-related orthodontic care is common and potentially detrimental to care. Current interventions are not uniformly successful and could be better tailored. Understanding provider, patient, and family factors that affect adherence can inform individualized treatment planning to improve adherence and ultimately, treatment outcomes.

Assessment of Psychosocial Risk in Families of Children With Craniofacial Conditions Using the Psychosocial Assessment Tool-Craniofacial Version.

OBJECTIVES: Using the Psychosocial Assessment Tool-Craniofacial Version (PAT-CV), this study measured variation in psychosocial risk in families of children with craniofacial conditions by demographic and clinical characteristics, frequency of condition-related problems, concordance between caregivers' report of risk, and association between risk level and psychosocial service utilization. DESIGN: Caregivers (n = 242) of 217 children with craniofacial conditions completed the PAT-CV, a psychosocial risk screener. Medical records were also abstracted. RESULTS: The PAT-CV scores varied significantly by insurance type and syndromic versus nonsyndromic diagnosis type. Language problems were most commonly reported on the Craniofacial Problems subscale, though 13% to 56% of parents endorsed specific problems. Mothers and fathers reported similar risk levels. Families with past social work or behavioral health consults had higher PAT-CV scores than those without consultations. CONCLUSION: The PAT-CV efficiently screens for psychosocial risk and craniofacial-specific problems. This tool may help clinicians identify families in need of intervention.

Identifying Psychosocial Risk Factors Among Families of Children With Craniofacial Conditions: Validation of the Psychosocial Assessment Tool-Craniofacial Version.

OBJECTIVE: To evaluate the psychometric properties of the Psychosocial Assessment Tool-Craniofacial Version (PAT-CV), a screening instrument for psychosocial risk in families of children with craniofacial conditions, and to examine risk classification of patients in a craniofacial population. DESIGN: Prospective, cross-sectional, single-center study. SETTING: Interdisciplinary cleft lip and palate/craniofacial center at a US children's hospital. PARTICIPANTS: Parents/caregivers (n = 242) of 217 children ages 1 month to 17 years being treated for a congenital syndromic or nonsyndromic craniofacial condition completed the PAT-CV and validating measures from July 2015 to July 2016. The PAT-CV was completed by 121 caregivers a second time to assess test-retest reliability. MAIN OUTCOME MEASURES: PAT-CV, Child Behavior Checklist, Adult Self-Report, Pediatric Quality of Life Inventory, Craniofacial Experiences Questionnaire, and Family Environment Scale. RESULTS: Construct validity of the PAT-CV was supported by significant correlations ( P < .001) between PAT-CV total and subscale scores and the validated measures. PAT-CV total scores categorized 59.9% of families within the universal risk group, 32.3% within the targeted risk group, and 7.8% within the clinical range. Good criterion validity was indicated by significantly higher scores ( P < .0001) obtained on the validated measures for those in the targeted and clinical risk groups. Internal consistency (Cronbach's α = 0.86) and test-retest reliability for the PAT-CV total score ( r = 0.77, P < .0001) were acceptable. CONCLUSIONS: The PAT-CV appears to be a reliable and valid screening instrument for psychosocial risk. Accurate identification of risk and implementation of appropriate interventions may contribute to improvements in medical and psychosocial outcomes.

Youth-Adult Connectedness:: A Key Protective Factor for Adolescent Health.

Over the past 30 years, prevention science in the adolescent health field has moved from interventions focused on preventing single problem behaviors to efforts employing a dual approach, addressing risk factors that predict problems while simultaneously nurturing protective factors and promoting positive development. Through an examination of previous research and empirical case examples with vulnerable youth, this article considers the hypothesis that adolescents' sense of connectedness to caring adults acts as a protective factor against a range of risk behaviors. Multivariate analyses with existing data examined indicators of youth-adult connectedness among two groups at high risk for poor health outcomes: (1) mentor-youth relationship quality in an urban, ethnically diverse sample of students in a school-based mentoring program (2014 survey, N=239); and (2) parent-youth connectedness in a statewide sample of high school students who reported homelessness in the past year (2013 survey, N=3,627). For youth in the mentoring program, a high-quality youth-mentor relationship was significantly associated with positive social, academic, and health-related behaviors. Among students who experienced homelessness, all measures of parent connectedness were significantly associated with lower sexual risk levels. Collectively, findings from these analyses and previously published studies by this research group provide evidence that strong, positive relationships with parents and other caring adults protect adolescents from a range of poor health-related outcomes and promote positive development. Youth-adult connectedness appears to be foundational for adolescent health and well-being. Program, practice, and policy decisions should consider what strengthens or hinders caring, connected youth-adult relationships.

Healthcare Barriers and Utilization Among Adolescents and Young Adults Accessing Services for Homeless and Runaway Youth.

Homeless and runaway youth are at disproportionate risk for adverse health outcomes. Many barriers to accessing healthcare have been documented; however, the relative impact of discrete barriers on homeless youth healthcare utilization behavior is not firmly established. We administered a survey examining reported barriers and healthcare utilization among adolescents and young adults accessing services at three community centers for homeless and runaway youth. Of 180 respondents, 57 % were male, 80 % non-White, and 21 % identified as a sexual minority. Stepwise logistic regression models, controlling for age and study site, explored associations between barriers and 3 healthcare utilization outcomes (doctor visit in past 12 months; regular care provider; frequent emergency department (ED) visits). The most commonly reported barriers were "don't have a ride" (27.2 %), "no insurance" (23.3 %), and "costs too much" (22.8 %). All fear-based barriers (e.g., "I don't trust the doctors") were reported by <5 % of surveyed youth. Significant predictors of having seen a doctor in the past 12 months included sexual minority status (OR 2.8, p = 0.04) and possession of health insurance (OR 4.9, p < 0.001). Female sex (OR 5.2, p < 0.001) and reported external barriers other than health insurance (OR 0.2, p < 0.001) were associated with having a regular care provider. Fear-based concerns were associated (OR 3.8, p = 0.02) with frequent ED visits, as was being insured (OR 2.2, p = 0.03). These results underscore the need to clearly define healthcare outcomes when investigating barriers to care among homeless and runaway youth as the impact of discrete barriers varies depending on outcome of focus.