Pediatric and Adult Recommendations Vary for Sibling Testing in Cystic Fibrosis

Four to 5 % of cystic fibrosis (CF) patients are diagnosed as adults and often have subtler symptoms. Their siblings are at genetic risk to also have a subtler disease state. Diagnostic testing is recommended for siblings of newly diagnosed infants, but recommendations are less clear for later diagnoses. This study explored sibling testing recommendations in pediatric and adult practice using a survey that was emailed to CF clinicians. There were 58 respondents. Results revealed that 82.5% of pediatric and 36.4% of adult care respondents reported always recommending diagnostic testing for siblings of a newly diagnosed patient. In adult care, another 33.3% reported recommending diagnostic testing if the sibling has symptoms. In pediatric care, whether the sibling had newborn screening was most influential. Most pediatric respondents prefer the sweat chloride test, while 40% in adult practice prefer familial mutation analysis. Perceived barriers included cost, insurance coverage and logistical concerns in both settings, parental emotional state in pediatrics, and concern making recommendations for someone who is not the patient in adult care. Genetic counselors may be able to meet familial needs in CF care, including sibling testing. Many newly diagnosed patients/families do not see a genetic counselor, especially in adult care. These data reveal opportunities for practice guidelines and standardization.     

A Two-Phase Approach to Developing SNAP: an iPhone Application to Support Appointment Scheduling and Management for Women with a <Emphasis Type="Italic">BRCA</Emphasis> Mutation

Professional organizations provide surveillance guidelines for BRCA1 and BRCA2 (BRCA) carriers with intact breasts and/or ovaries to facilitate early cancer detection. However, literature indicates adherence to surveillance guidelines is inconsistent at best. Using the Messaging Model for Health Communication Campaigns framework, we undertook a two-phase formative research approach to develop an intervention to promote adherence to surveillance guidelines. Discussion groups identified preferred intervention format and function in phase I. Findings indicated carriers desired a phone application (app) to assist with surveillance management and appointment tracking. Thus, an iPhone app for carriers to track appointments based on published surveillance guidelines was developed. In phase II, we obtained feedback from BRCA carriers via a survey during a prototype demonstration at a regional conference. Participants in phase II wanted reminder capabilities and the ability to add and modify information fields. This feedback informed intervention modifications, resulting in the Scheduling Necessary Advised Procedures (SNAP) iPhone app currently being pilot tested by BRCA carriers throughout the USA.     

Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls

Neurofibromatosis type 1 (NF1) is a genetic, autosomal dominant multi-organ disease characterized by susceptibility to tumor formation, changes in skin pigmentation, skeletal abnormalities, and neuropsychological deficits. Clinical studies have shown impaired health-related quality of life (HQoL) in adults with NF1. However, little is known about HQoL in non-clinical NF1 samples. We conducted a cross-sectional self-report survey of 142 persons with NF1 (M age?=?50.3 years, SD?=?12.0, range 32 to 80; 62.0% females) recruited from non-clinical settings. Several HQoL domains, including life satisfaction, mental health, sleep, pain, gastrointestinal problems, oral health, and social support, were compared between the NF1 sample and 46,293 controls from the HUNT3 population study. We also examined gender differences within the NF1 sample and predictors of HQoL. Compared to controls, the NF1 sample reported significantly poorer life satisfaction, mental health, sleep, and oral health, and more pain, gastrointestinal problems, comorbid diseases, and memory problems. Several HQoL domains were significantly correlated. Mental health was the only unique significant predictor of overall life satisfaction. Women with NF1 reported significantly more mental health, sleep, and pain problems than men with NF1. Mental health assessment and management should be integrated into clinical care of persons with NF1 to potentially improve their HQoL.     

Parkinson’s Disease: Patients’ Knowledge,Attitudes, and Interest in Genetic Counseling

The objective of this study was to assess the genetics knowledge of patients with Parkinson’s disease (PD), and to explore their attitudes on genetic testing and interest in genetic counseling. We surveyed 158 patients from the University of Maryland Parkinson’s Disease and Movement Disorders Center. Patients averaged a score of 63% on general genetics knowledge and 73% on PD genetics knowledge. Participants had an overall positive attitude toward genetic testing: 80% believed that the use of genetic tests among people should be promoted, and 83% would undertake genetic test for PD if it was available. Patients reported a high interest to discuss the benefits, risks, and impacts of genetic testing for PD (mean sum score?=?26, range?=?9–35), and 43% patients expressed interest in meeting with a genetic counselor. Multivariate regression analysis showed that patients who had more positive attitudes toward genetic testing for PD were more interested in meeting with a genetic counselor (β?=?0.6, p?<?0.001). This study is the first to demonstrate an interest in genetic counseling among patients with PD. Our findings demonstrate a new niche for genetic counselors to support patients in clarifying gaps or misconceptions in knowledge about PD genetics as well as the possible risks, benefits, and limitations of genetic testing.     

Finding a Balance: Reconciling the Needs of the Institution,Patient, and Genetic Counselor for Optimal Resource Utilization

The current practice of cancer genetic counseling is undergoing widespread change and scrutiny. While there are clinical resources for genetic counselors (GCs) regarding the delivery of cancer genetic services, there is limited literature regarding effective management of a genetic counseling clinical program. We have developed administrative tools to manage a large team of GCs at a single academic medical center over a period of increasing demand for genetics services, with the initial aim of decreasing wait time for urgent genetic counseling visits. Here, we describe the three main elements of the clinical operations: Balancing patient volume between GCs, scheduling tracks for both routine and urgent appointments, and a team of triaging GCs to ensure appropriate patient referrals. For each of these elements, we describe how they have been modified over time and present data to support the utility of these strategies. The preliminary evidence offered here suggests that these tools allow for an equitable distribution of patient volume between team members, as well as the timely and accurate scheduling of urgent patients. As a result of the experiences presented here, other genetic counseling programs grappling with similar issues should be aware that it is possible to shift clinical operations to serve certain patient populations in a more timely fashion while keeping both providers and GC staff satisfied.     

The Longitudinal Impact of a Family-Based Communication Intervention on Observational and Self-Reports of Sexual Communication

Parents can play a vital role in shaping teenagers’ sexual attitudes, behavior, and contraceptive use through communication, however, less is known about how to modify parent–adolescent communication among youth with mental health problems. The impact of a family-based sexual risk prevention intervention on both observational and self-report of parent–adolescent sexual communication was examined at 12 months among adolescents with mental health problems. Of the 721 parent–adolescent dyads recruited for the study, 167 videotapes of sexual discussions between parents and adolescent were coded for the family-based intervention and 191 videotapes for the active comparison. Longitudinal analyses examined differences between conditions (family-based vs. comparison) in self-reported and observed parent–adolescent sexual discussions and also examined the impact of gender on intervention response. More parent I-statements, healthier parent body language, and fewer adolescent Negative Vocalizations were detected for family-based intervention participants 12 months after participating in the brief intervention (11?h of total intervention time) relative to those in the comparison condition. Parents in the family-based intervention also self-reported better sexual communication at 12 months. The current study provides supporting evidence that a relatively brief family-based intervention was successful at addressing parent–adolescent sexual communication among a mental health sample.     

Validity of Adolescent and Parent Reports on the Six-Item ADHD Self-Report Scale (ASRS-6) in Clinical Assessments of Adolescent Social Anxiety

Adolescents experiencing social anxiety often experience co-occurring attention-deficit/hyperactivity disorder (ADHD) symptoms. Yet, assessing for social anxiety poses challenges given the already time-consuming task of distinguishing social anxiety from other commonly co-occurring internalizing conditions (e.g., generalized anxiety, major depression). Assessors need short screening devices to identify socially anxious adolescents in need of intensive ADHD assessments. A six-item version of the ADHD Self-Report Scale (ASRS-6) was originally developed to identify adults who likely meet diagnostic criteria for ADHD, but its psychometric properties have yet to be examined among adolescents. We tested the psychometric properties of the ASRS-6 when administered in clinical assessments for adolescent social anxiety. Eighty-nine 14–15 year old adolescents and their parents (67.4% female; 62.1% African American; 30 Clinic-Referred; 59 Community Control) completed the ASRS-6, measures of adolescent social anxiety and depressive symptoms, and parent-adolescent conflict. Adolescent self-reported and parent-reported ASRS-6 positively related with scores from established measures of social anxiety, depressive symptoms, and parent-adolescent conflict. Further, adolescent self-reported (but not parent-reported) ASRS-6 scores significantly discriminated adolescents on referral status. Adolescent self-reported (but not parent-reported) ASRS-6 scores incrementally predicted social anxiety over-and-above depressive symptoms, which commonly co-occur with social anxiety. Conversely, parent-reported (but not adolescent self-reported) ASRS-6 scores incrementally predicted parent-adolescent conflict over-and-above depressive symptoms, which commonly co-occur with conflict. When assessing adolescent ADHD symptoms, adolescents’ and parents’ reports meaningfully vary in their links to validity indicators. As such, among adolescents assessed for social anxiety, clinical assessments of adolescent ADHD symptoms should include both parent reports and adolescent self-reports.     

Linking Family Functioning and Self-Discrepancies among Children with Functional Somatic Symptoms

Functional somatic symptoms (FSS), defined as physical symptoms of unknown pathology, are common among children and adolescents and are often associated with high levels of functional impairment. Self-discrepancy theory (SDT) suggests that discrepancies between one’s ideal, ought, or undesired self-states and one’s actual self-representation may lead to emotional distress. Among families with dysfunctional patterns, such emotional distress may result in FSS. The current study examined the relationship between familial patterns and children’s levels of self-discrepancies, among children with and without FSS. Twenty-three children diagnosed with FSS and 23 children with orthopedic problems (non-FSS) and their mothers participated in the study. Mothers and children completed the Child Somatization Inventory and the Integrated Self-Discrepancies Index. Mothers also completed the general scale of the Family Assessment Device. Higher levels of symptom intensity were found in the FSS group than in the non-FSS group. Dysfunctional familial patterns were significantly higher in the FSS group, and higher levels of discrepancies were reported in the FSS group, compared with the non-FSS group. No significant relationship was found in the FSS group between level of self-state discrepancies and level of family functioning. Higher levels of dysfunctional patterns are observed among families of children with FSS. Furthermore, children with FSS and their mothers hold relatively high levels of self-state discrepancies. However, these elevated discrepancies are not significantly related to familial dysfunctional patterns. Viewing self-state discrepancies together with family maladaptive patterns might help address both inter- and intrapersonal conflicts within the family and reduce children’s symptoms.     

Single Parenthood and Adolescent Sexual Outcomes

Research suggests that children of single parents are at heightened risk of precocious sexual behavior, STDs, and other risky sexual outcomes. However, few such studies have addressed the type of single-parent family (single mother or single father), or differences across other-sex parent–child dyads. While gender essentialist models assume differences among youth living only with mothers or with fathers, constructivist models propose more flexible modes of parenting that lead to more similar outcomes. Using data from the National Longitudinal Study of Adolescent to Adult Health (n?=?2570) on youth between the ages of 15 and 19, we compared sexually-related outcomes among adolescents, both boys and girls, who lived with a single mother or a single father. These outcomes include sexual intercourse and knowledge, use of contraception, attitudes toward intimacy and pregnancy, and diagnosis of sexually-transmitted diseases. The results from linear and logistic regression models indicated few differences between single-mother and single-father families, or between same-sex and opposite-sex parent–child matches, using p values of .05 or smaller. Our results called into question essentialist models that posit higher risks for adolescents living with a particular parent or with an opposite-sex parent.