Written language achievement in children and adolescents with neurofibromatosis type 1 and Plexiform Neurofibromas.

Neurofibromatosis type 1 (NF1) is associated with below average writing achievement. However, little is known about specific aspects of written language impacted by NF1, changes in writing over time, and associations between cognitive aspects of the NF1 phenotype and writing. At three timepoints over six years, children with NF1 and plexiform neurofibromas (PNs) completed Woodcock-Johnson tests of writing mechanics (Spelling, Punctuation & Capitalization, handwriting), written expression of ideas (Writing Samples), writing speed (Writing Fluency), and tests of general cognitive ability, executive function, memory, and attention. Children (N = 76, mean age = 12.8 ± 3.4 years) completed at least one baseline writing subtest. Overall writing scores were in the Average range (M = 93.4, SD = 17.4), but lower than population norms (p = 0.002). Scores were highest on Writing Samples (M = 95.2, SD = 17.3), and lowest for Punctuation & Capitalization (M = 87.9, SD = 18.8, p = 0.034). Writing scores were mostly stable over time. Nonverbal reasoning was related to some tests of writing mechanics and written expression of ideas. Short-term memory and inattention explained additional variance in Writing Samples and Spelling. Poor handwriting was associated with writing content beyond the impact of cognitive factors. Children with NF1 and PNs may benefit from early screening and writing support. Interventions should address the contribution of both cognitive and handwriting difficulties in written language.

Perceived transition readiness among adolescents and young adults with neurofibromatosis type 1 and plexiform neurofibromas: a cross-sectional descriptive study.

OBJECTIVES: Neurofibromatosis type 1 (NF1) is a genetic cancer predisposition syndrome that can impact multiple organ systems and is associated with plexiform neurofibroma tumors, requiring care from birth through adulthood. Adolescents and young adults (AYAs) with NF1 face several barriers to transition from pediatric to adult care. This cross-sectional study aimed to assess transition readiness in this population and to evaluate relationships between specific NF1 symptoms and transition readiness. METHODS: AYAs (aged 16-24) enrolled in existing studies related to NF1 were eligible. AYAs and their parents completed measures of transition readiness (Transition Readiness Assessment Questionnaire version 4 [TRAQ-4]), and AYAs also completed a transition readiness interview (UNC TRxANSITION). RESULTS: Thirty-eight AYAs (mean age = 19.95 ± 2.68 years) participated in the study. Average TRAQ scores indicated that AYAs were still learning Self-Management skills (M = 3.37, SD = 1.08) and Self-Advocacy skills (M = 3.98, SD = 0.67). Older AYAs had higher TRAQ scores for Self-Management (r = 0.70, p < .001) and Self-Advocacy (r = 0.41, p = .011) than younger AYAs. Parents and AYAs had similar TRAQ scores. About one third of AYAs (37.8%, n = 14) expressed uncertainty about how NF1 might affect them in the future. The remaining AYAs mostly expressed concerns regarding tumor growth, pain, or cancer. CONCLUSIONS: In this small study, preliminary findings suggest that AYAs with NF1 express confidence in many areas of transition readiness but continue to require support, particularly with Self-Management skills. Given the gaps in understanding of future health risks, AYAs with NF1 would benefit from early assessment, psychoeducation, and support for transition readiness to adult care.

Uptake and timing of bilateral and contralateral risk-reducing mastectomy in women with Li-Fraumeni syndrome.

PURPOSE: Women with Li-Fraumeni Syndrome (LFS) often consider risk-reducing mastectomy (RRM) due to extremely high risk of breast cancer at early ages. Data on uptake of RRM in LFS are scarce, and are inferred from experience in women with pathogenic variants (PVs) in BRCA1/2, despite differences in cancer risks. This study evaluated RRM uptake in a cohort of women with LFS. METHODS: Women (n = 205) with LFS enrolled in NCI's LFS study reported lifetime cancer diagnoses and mastectomies and completed questionnaires regarding reproductive history, cancer worry and risk perceptions. A subset of women participating in an annual cancer screening study received counseling regarding RRM. RESULTS: 65% (n = 71) of women diagnosed with presumed unilateral breast cancer (n = 109) underwent contralateral RRM over their lifetime. Nearly half (49%, n = 25) of the women who did not complete contralateral RRM within one year of their breast cancer diagnosis (n = 51) developed contralateral breast cancer (median interval = 6 years). Only 18.5% (n = 15) of women without breast cancer history (n = 81) underwent bilateral RRM. Median age at bilateral RRM of 39 years was sub-optimal for breast cancer risk reduction. Contralateral RRM was associated with early genetic diagnosis, participation in the screening study, and fewer prior cancers. Bilateral RRM uptake was associated with having had children, having breastfed, and high cancer worry. CONCLUSION: Uptake of contralateral RRM is high in women with LFS. The frequency of contralateral breast cancer necessitates active discussion of benefits of contralateral RRM and counseling regarding bilateral RRM should be tailored to the early age at risk of breast cancer onset in LFS. There is a need for research into the survival and long-term benefits of RRM in LFS.

Sex differences in affect-triggered lapses during smoking cessation: A daily diary study.

INTRODUCTION: Smoking lapses during a cessation attempt are common and are thought to be a key predictor of full relapse. Positive and negative affective states have been hypothesized as important precipitants of lapses during quit attempts, although findings have been mixed. Accumulating evidence suggests that women may smoke more when experiencing negative affective states, while men may smoke more when experiencing positive affective states. The possibility that these sex differences may play a role in predicting lapses during a smoking cessation attempt, however, has not been well-investigated. In this study, we hypothesized that, during a quit attempt, negative affect would be more strongly associated with lapses among women, and positive affect would be more strongly associated with lapses among men. METHOD: We conducted a prospective study in which male and female nicotine-dependent smokers (n = 60) made an unaided, 'cold-turkey' quit attempt. For fourteen days following the initiation of the quit attempt, participants completed daily diaries in which they recorded the degree to which states of 'good mood' and 'bad mood' preceded smoking lapses. RESULTS: Consistent with the study hypothesis, findings indicated that men reported higher good-mood-induced smoking lapses than women across the 14-day study interval. Conversely, while levels of bad-mood-induced smoking subsided over the 14-day interval among men, levels persisted among women. DISCUSSION: Results further underscore the need to address sex-specific affective triggers when developing smoking cessation strategies.

Direct and Indirect Effects of Psychological Distress on Stress-Induced Smoking.

OBJECTIVE: Numerous studies have modeled the effects of stress in the laboratory, demonstrating that smokers who are exposed to experimental stressors exhibit significant increases in acute psychological distress. Whether these stress reactions are predictive of stress-induced smoking during an actual quit attempt, however, has not been examined. Furthermore, the possibility that such effects are particularly strong among smokers with higher ambient levels of distress has not been addressed. METHOD: Nicotine-dependent smokers (N = 60; 40 women, 20 men) completed the Brief Symptoms Index (BSI) and then participated in a laboratory stress task 1 week before a quit attempt. Acute psychological distress was measured immediately before and after exposure to stressful and neutral stimuli. After they quit, participants completed a smoking diary for 14 days in which they recorded the degree to which their smoking was precipitated by emotional stress. RESULTS: Consistent with our hypotheses, BSI scores predicted both exaggerated laboratory stress responses (p < .005) and smoking that was attributable to stress during the 14-day postquit period (p < .01). Laboratory stress reactions were predictive of stress-induced smoking (p < .01), and acute psychological stress reactions mediated the effects of BSI on stress-induced smoking. CONCLUSIONS: Acute psychological stress reactivity is a potential mechanism underlying the effect of stress-induced smoking during a quit attempt.