Autosomal Dominant Osteopetrosis (ADO) caused by a Missense Variant in the TCIRG1 Gene.

CONTEXT: Autosomal dominant osteopetrosis (ADO) is a rare genetic disorder due to impaired osteoclastic bone resorption. Clinical manifestations frequently include fractures, osteonecrosis (particularly of the jaw or maxilla), osteomyelitis, blindness, and/or bone marrow failure. ADO usually results from heterozygous missense variants in the Chloride Channel 7 gene (CLCN7) that cause disease by a dominant negative mechanism. Variants in the T cell immune regulator 1 gene (TCIRG1) are commonly identified in autosomal recessive osteopetrosis but have only been reported in one patient with ADO. CASE DESCRIPTION: Here we report 3 family members with a single heterozygous missense variant (p.Gly579Arg) in TCIRG1 who have a phenotype consistent with ADO. Three of five protein prediction programs suggest this variant likely inhibits the function of TCIRG1. CONCLUSIONS: This is the first description of adult presentation of ADO caused by a TCIRG1 variant. Similar to families with ADO from CLCN7 mutations, this variant in TCIRG1 results in marked phenotype variability, with two subjects having severe disease and the third having very mild disease. This family report implicates TCIRG1 missense mutations as a cause of ADO and demonstrates that the marked phenotypic variability in ADO may extend to disease caused by TCIRG1 missense mutations.

Assessment of adolescent decision-making capacity for pharmacy access to hormonal contraception.

OBJECTIVES: To examine adolescents' decision-making capacity for pharmacsist-prescribed hormonal contraception. STUDY DESIGN: A subset of 60 females, ages 14-21, were recruited to complete the MacArthur Competence Assessment Tool-Treatment. Overall scores were compared by age and demographic factors and variation examined. RESULTS: Participants scored high on the MacArthur Competence Assessment Tool-Treatment with little variation in the scores (18.8 [±1.9]/20 total points). Factors such as chronic illness, health literacy, and family affluence were not associated with of overall scores. CONCLUSIONS: Adolescents and young adults have the capacity to make decisions regarding contraception in the pharmacy access settings.

Adolescent Women with Congenital Heart Disease: Self-Reported Reproductive Health Discussions with Health Care Providers.

STUDY OBJECTIVE: This study evaluated self-reported discussions with health care providers (HCPs) among adolescent and young adult (AYA) women with congenital heart disease (CHD). DESIGN: Data were collected through a one-time survey of AYA women. SETTING: Participants were recruited from pediatric cardiology clinics. PARTICIPANTS: AYA women with CHD, ages 14-21 (N = 107) INTERVENTIONS: None MAIN OUTCOME MEASURES: Questionnaires assessed adolescent characteristics and specific HCP discussions regarding transmissibility of a cardiac condition to the infant, risk of pregnancy, and hormonal contraception. Outcome measures were self-reported discussions with HCPs about these reproductive health topics. RESULTS: Mean age was 16.8 years (SD = 2.1). Self-reported reproductive health discussions were infrequent, including discussions on transmissibility of a heart condition to their offspring (37%), risk of pregnancy to their offspring (34%), risks of pregnancy to their health (46%), and risks of hormonal contraception given their heart condition (21%). Reported discussions were most commonly with a cardiologist. CONCLUSIONS: AYA women with CHD reported limited discussions about reproductive health topics important to those with CHD. Lack of appropriate and timely counseling could lead to poor maternal and child health outcomes. Targeted interventions that improve reproductive health discussions between HCPs and AYA women with CHD are needed to close critical information and service gaps.

Adolescents' and Young Adults' Ability to Self-Screen for Contraindications to Hormonal Contraception and the Role of Chronic Illness.

PURPOSE: Multiple states allow pharmacists to prescribe hormonal contraception but can have age restrictions. The study objective was to examine how age influences adolescents' and young adults' (AYAs) ability to self-report potential contraindications to hormonal contraception compared with physician reports (our "gold standard"). METHODS: Between February 2017 and August 2018, girls aged 14-21 years and their physicians were recruited in outpatient adolescent primary and subspecialty care clinics. Screeners were completed separately for medical conditions that are potential contraindications to hormonal contraception as defined by the Centers for Disease Control Medical Eligibility Criteria. Overall, discordance was defined as differences between the patient's and provider's answers, and potential unsafe discordance was defined as AYAs underreporting of contraindications. Multivariable logistic regression was used to examine predictors of overall and unsafe discordance. RESULTS: Of 394 AYA/physician pairs, 45% were from subspecialty clinics, 35% identified as African American, the mean age was 16.7 ± 1.9 years, and 38% were sexually active. Fifty percent of patients reported potential contraindications to hormonal contraception. There was only an 18% rate of unsafe discordance, with no statistical difference by age but a higher rate in subspecialty clinics (28% vs. 10%). No variables were predictive of higher rates of unsafe discordance in general or subspecialty clinics. CONCLUSIONS: Potential overall and unsafe discordance between AYAs' and physicians' reports of medical contraindications to combined hormonal contraception were not related to younger age and thus support expansion of pharmacy access to adolescents. Pediatric subspecialists need to proactively address hormonal contraceptive needs and safety as pharmacy access expands.

Reproductive health conversations in adolescents with CHD.

BACKGROUND: Reproductive issues as related to CHD must be discussed in the clinic and at home. Providers can ensure that correct information is imparted to the adolescent and encourage mothers to provide support and guidance to the adolescent. The level to which these conversations occur is unknown. METHODS: A survey distributed to female adolescent/mother dyads assessed self-reported conversations with the healthcare provider and between each other about reproductive health topics. A clinician survey was completed to assess CHD diagnosis, risk of hormonal contraception, and pregnancy risk. RESULTS: Among 91 dyads, 33.0% of adolescents and 42.9% of mothers reported discussing recurrence risk of CHD with the provider. In regard to the cardiac lesion affecting a baby, 30.7% of adolescents and 28.7% of mothers reported discussing this with a provider. Significantly less adolescents and mothers reported discussing the risks of hormonal contraception and pregnancy with a provider. In assessing conversations between adolescents and mothers, only 44.2% of adolescents and 52.3% of mothers reported discussing with each other the safety of using birth control and 46.5% of adolescents and 64.0% of mothers reported discussing the safety of pregnancy. CONCLUSIONS: Adolescents with CHD and their mothers report low rates of reproductive health-related conversations with the healthcare provider, and mothers report low rates of having these conversations with their daughters. These topics should be discussed at each appointment with the cardiologist and must be encouraged to continue at home.

Measuring research mistrust in adolescents and adults: Validity and reliability of an adapted version of the Group-Based Medical Mistrust Scale.

Mistrust of health care providers among persons of color is a significant barrier to engaging them in research studies. Underrepresentation of persons of color is particularly problematic when the health problem under study disproportionately affects minoritized communities. The purpose of this study was to test the validity and reliability of an abbreviated and adapted version of the Group Based Medical Mistrust Scale. The GBMMS is a 12-item scale with three subscales that assess suspicion, experiences of discrimination, and lack of support in the health care setting. To adapt for use in the research setting, we shortened the scale to six items, and replaced "health care workers" and "health care" with "medical researchers" and "medical research," respectively. Using panelists from a market research firm, we recruited and enrolled a racially and ethnically diverse sample of American adults (N = 365) and adolescents aged 14-17 (N = 250). We administered the adapted scale in a web-based survey. We used Cronbach's alpha to evaluate measure internal reliability of the scale and external factor analysis to evaluate the relationships between the revised scale items. Five of the six items loaded onto a single factor, with (α = 0.917) for adolescents and (α = 0.912) for adults. Mean scores for each item ranged from 2.5-2.9, and the mean summary score (range 6-25) was 13.3 for adults and 13.1 for adolescents. Among adults, Black respondents had significantly higher mean summary scores compared to whites and those in other racia/ethnic groups (p<0.001). There was a trend toward significance for Black adolescents as compared to white respondents and those in other racial/ethnic groups (p = 0.09). This five-item modified version of the GBMMS is reliable and valid for measuring research mistrust with American adults and adolescents of diverse racial and ethnic identities.

Tapping into Community Resiliency in Rural Adolescent Pregnancy Prevention: An Implementation Sciences Approach.

Although rural youth experience marked inequities in adolescent pregnancy, there is little guidance for implementing evidence-based programs (EBPs) in rural settings. When implementation occurs in rural communities, it frequently focuses on deficits, rather than strengths or capacity for growth. Using the consolidated framework for implementation research (CFIR), we describe a resiliency-focused implementation of two middle school EBPs in rural Midwestern communities, including the intervention, outer and inner settings, individuals, implementation processes and preliminary outcomes. Data included program staff interviews, feedback from local partners, community meetings notes, and participant surveys. Using the CFIR, we describe the engagement of rural communities themselves in a resilience-based implementation of adolescent pregnancy prevention EPBs. Communities self-described as rural, traditional and religious. They identified adolescent pregnancy, substance use, and academic success as priorities. To address infrastructure needs and build on local strengths, funds were used to hire local partners to implement the program. As small communities, stakeholders were closely networked and wanted to address local needs. Local partners selected the EBP based upon community values and priorities. Champions, including local partner organizations and schools were locally based and were well connected. Intensive training of local staff and piloting with adaptation assured fidelity and sustainability, while increasing community implementation skills and comfort. In Clinton County, enrollment was 1946 with students receiving the program in 6th, 7th, and/or 8th grades. In Southern Indiana, 7275 students received the program once in either 6th, 7th, or 8th. We conclude that the CFIR can facilitate the implementation of a community resilience-focused adolescent pregnancy prevention intervention in rural communities.

Only Yes Means Yes: Sexual Coercion in Rural Adolescent Relationships.

PURPOSE: Sexual consent is important to healthy relationships; however, sexual coercion is common. We examine modifiable risk and protective factors for sexual coercion among high school students in a rural community. METHODS: We surveyed 10th graders (N = 442) in a rural, Midwestern, low-to-middle income county before receiving an evidence-based sex education program. Sexual coercion was a single item, "has anyone you were dating or going out with forced you to do sexual things that you did not want to do?" We examined associations between sexual coercion and demographics, risk behaviors, sexual self-efficacy, controlling relationship behaviors, parent communication, and adverse childhood experiences. RESULTS: Approximately 22% of females and 8% of males reported experiencing sexual coercion at least once in their lifetime. Gender differences emerged in associated risk and protective factors, including sexual sex efficacy, controlling relationship behaviors, parent-adolescent communication about sex, and adverse childhood experiences. CONCLUSIONS: Sexual coercion is common among adolescents in rural communities. Prevention interventions should target modifiable risk and protective factors.