RESUMO
Background: The Finnish Gutsy Go programme is a positive youth development intervention designed to enhance adolescents' psychosocial well-being by enabling eighth-grade students to develop and execute good deeds within the community.Objective: This study aimed to explore the effect of the Gutsy Go programme on adolescents' positive mental health, experience of social inclusion, and social competence using a quasi-experimental study design.Methods: Data were collected with electronic questionnaires at baseline (n = 236 programme participants and n = 303 controls) and follow-up two weeks after the programme (n = 126, 54.2% programme participants and n = 103, 34.1% controls). Analyses included paired samples t-tests and mixed ANOVA analyses.Results: A statistically significant intragroup change across time was detected in the level of cooperation skills among programme participants (t(127) = -2.460, p = 0.015) but not among controls (t(102) = 1.088, p = 0.279). Statistically significant main effects were found for the intervention group on the experience of social inclusion (F(1, 1) = 9.34, p = 0.003, ηp2 = 0.040), cooperation skills (F(1,1) = 5.28, p = 0.020, ηp2 = 0.020), and empathy (F(1,1) = 6.44, p = 0.010, ηp2 = 0.030) across time.Conclusion: The Gutsy Go programme could be beneficial in improving adolescents' experience of social inclusion, cooperation skills, and empathy. More studies are needed to address the effects of the programme more firmly.
RESUMO
Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. In 2007, a group of European experts (the Mallorca group) published guidelines for the clinical management of LS. Since then substantial new information has become available necessitating an update of the guidelines. In 2011 and 2012 workshops were organised in Palma de Mallorca. A total of 35 specialists from 13 countries participated in the meetings. The first step was to formulate important clinical questions. Then a systematic literature search was performed using the Pubmed database and manual searches of relevant articles. During the workshops the outcome of the literature search was discussed in detail. The guidelines described in this paper may be helpful for the appropriate management of families with LS. Prospective controlled studies should be undertaken to improve further the care of these families.
Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/terapia , Adulto , Idoso , Colonoscopia/normas , Neoplasias Colorretais Hereditárias sem Polipose/complicações , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias/diagnóstico , Neoplasias/etiologia , Neoplasias/genética , Neoplasias/terapia , Vigilância em Saúde Pública , Fatores de Risco , Adulto JovemRESUMO
Recently, three children with a microduplication in 17p13 including the PAFAH1B1 gene that encodes LIS1 were reported. LIS1 overexpression has earlier been shown to affect brain development by causing migrational defects and reductions in brain volume [Bi et al., 2009]. Here, we report an additional patient with a microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 gene, that was inserted into the long arm of chromosome 4. The patient had psychomotor and growth retardation, dysmorphic features, small ventricular septal defect (VSD), and immunoglobulin abnormality. Only subtle abnormalities in brain MRI scan were seen. Interestingly, the facial features of our patient closely resemble those previously reported in 17p trisomy patients.
Assuntos
1-Alquil-2-acetilglicerofosfocolina Esterase/genética , Duplicação Cromossômica/genética , Cromossomos Humanos Par 17/genética , Proteínas Associadas aos Microtúbulos/genética , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Pré-Escolar , Cromossomos Humanos Par 4/genética , Feminino , Humanos , Fenótipo , RadiografiaRESUMO
We evaluated long-term psychosocial consequences of predictive genetic testing, and surveillance behaviour in Lynch syndrome (LS). We conducted a longitudinal study of 208 participants (62 LS mutation carriers and 146 non-carriers) who provided information on general anxiety (State-Trait Anxiety Inventory), fear of cancer and dying, satisfaction with life, risk and test perceptions, and surveillance behaviour in the baseline questionnaire before testing, and 1 month, 1 year and 7 years post-test. At 7 years, most of the psychosocial variables remained unchanged, regardless of mutation status. Carriers tended to underestimate their colorectal cancer risk but were more worried about their cancer risk than their counterparts. Non-carriers reported a higher degree of satisfaction with their testing decisions (P < 0.05), but had more doubts concerning test result validity than carriers (P < 0.05). All carriers attended a post-test colonoscopy surveillance, while 16% of non-carriers reported colonoscopy examinations. Those non-carriers with doubts about test validity were more likely (P = 0.019) to report post-test colonoscopy. Of the carriers, 17% had an interval longer than 3 years between their colonoscopies. Fear of dying soon, measured at 1-month post-test follow-up was the only psychosocial variable predicting non-compliance in recommended surveillance. No adverse psychosocial consequences were detected, and respondents were satisfied with their decision to testing 7 years post-test. Among the carriers, solely fear of dying soon predicted non-compliance in recommended surveillance. Some non-carriers were still worried about their risk and had doubts about the validity of their genetic testing results predicting post-test colonoscopy.
Assuntos
Ansiedade/psicologia , Colonoscopia/psicologia , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais Hereditárias sem Polipose/psicologia , Testes Genéticos , Cooperação do Paciente , Proteínas Adaptadoras de Transdução de Sinal/genética , Adulto , Ansiedade/etiologia , Criança , Colonoscopia/estatística & dados numéricos , Neoplasias Colorretais Hereditárias sem Polipose/complicações , Neoplasias Colorretais Hereditárias sem Polipose/epidemiologia , Feminino , Finlândia/epidemiologia , Seguimentos , Heterozigoto , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Proteína 1 Homóloga a MutL , Proteína 2 Homóloga a MutS/genética , Mutação/genética , Proteínas Nucleares/genética , Vigilância da População , Prognóstico , Qualidade de Vida , Inquéritos e Questionários , Fatores de TempoRESUMO
Identification of hereditary predisposition to cancer has limited significance if not followed by efficient cancer prevention. The responsibility of informing offspring about genetic risk often falls to the parents. We systematically investigated how parents with Lynch Syndrome share knowledge of genetic risk with their offspring, challenges in the communication process and wish for professional support. Of all known mutation carriers over age 40 (n = 337) in 102 Finnish Lynch Syndrome families, 86% completed a self-reported questionnaire; 248 of them (86%) had children. Of the 248 parents, 87% reported disclosure and 13% nondisclosure. Reasons for nondisclosure were mainly the young age of offspring, socially distant relationships, or feeling of difficulty in discussing the topic. Men reported significantly more often disclosure with a support person (spouse etc.) (P < 0.001). The most difficult communication aspect was discussing children's cancer risk. Of the 191 firstborn adult children informed, 69% had taken the predictive genetic test. Every third parent suggested that health professionals should be involved in passing on the information and that a family appointment at the genetic clinic should be organized at the time of disclosure. Nearly all parents had informed their adult offspring about the genetic risk and possibility of genetic testing, but almost one-third were unsure of how their offspring had used the information. The challenge is to improve the communication processes, so that all offspring would get the information important for their health care, and parents would get the professional support desired at disclosure.
Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais Hereditárias sem Polipose/psicologia , Comunicação , Predisposição Genética para Doença , Testes Genéticos/psicologia , Mutação/genética , Pais/psicologia , Adulto , Criança , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Família , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Relações Pais-Filho , Fatores de Risco , Revelação da VerdadeRESUMO
PURPOSE: Colonoscopies with polypectomies and endometrial biopsies with transvaginal ultrasonography, repeated at 2- to 3-year intervals, are performed for prevention or early detection of cancer in patients with DNA mismatch repair gene mutation causing Lynch syndrome. The long-term effectiveness of surveillance was evaluated in Lynch syndrome family members tested approximately 10 years ago. MATERIALS AND METHODS: Cancer incidence and survival were determined after an 11.5-year follow-up in 242 mutation-positive and 367 mutation-negative participants. These participants in 57 Lynch syndrome families with 14 different mutations were at 50% risk. The median age was 36 years (range, 18 to 72 years) in mutation carriers and 42 years (range, 18 to 72 years) in mutation-negative participants, and none had had cancer of the Lynch syndrome type. RESULTS: Compliance was 95.9% for the colonic surveillance and 97.1% for the gynecologic surveillance. Colorectal cancer (CRC) occurred in 30 mutation-positive participants, and 74 participants had adenomas removed. Three patients died of CRC. Endometrial cancer (EC) occurred in 19 of 103 women at risk, and 48 women had prophylactic hysterectomy. Six of 112 women at risk had ovarian cancer. The overall cancer risk ratio (RR) in mutation carriers was 5.80 (95% CI, 3.4 to 9.5). Cancer mortality rate (RR = 2.28; 95% CI, 0.82 to 6.31) and overall death rate (RR = 1.26; 95% CI, 0.65 to 2.46) were not significantly increased. CONCLUSION: Long-term compliance in surveillance for CRC and EC exceeded 95% in Lynch syndrome. All CRC deaths were not prevented as a result of noncompliance or missed lesions. Still, after 10 years of surveillance, no significant increase in mortality had occurred compared with mutation-negative relatives.
Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/genética , Testes Genéticos/métodos , Mutação , Proteínas Adaptadoras de Transdução de Sinal/genética , Adolescente , Adulto , Idoso , Causas de Morte , Colonoscopia , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/genética , Neoplasias Colorretais/mortalidade , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Feminino , Finlândia/epidemiologia , Seguimentos , Neoplasias dos Genitais Femininos/epidemiologia , Neoplasias dos Genitais Femininos/genética , Neoplasias dos Genitais Femininos/mortalidade , Heterozigoto , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Proteína 1 Homóloga a MutL , Proteína 2 Homóloga a MutS/genética , Neoplasias/epidemiologia , Neoplasias/genética , Neoplasias/mortalidade , Proteínas Nucleares/genética , Taxa de Sobrevida , Fatores de Tempo , Adulto JovemRESUMO
OBJECTIVE AND METHODS: We describe the insurance behaviour of subjects (n=271) who had previously taken a predictive genetic test for hereditary non-polyposis colorectal cancer (HNPCC); 31% of them were mutation positive, indicating a high risk of cancer. One year after testing, subjects were sent a questionnaire including questions about their present life and health insurance before participation in the study, and their actual and planned purchase of the insurance policies during the testing programme which compromised a pre-test counseling session, a period for reflection, the testing, and a test disclosure session. RESULTS: Thirty percent reported that they already had a life insurance and 14% a health insurance before participating in the study. The mutation-positive subjects possessed a health insurance significantly more often than the mutation-negative individuals (21 vs. 11%, p=0.02) and similar trend was observed for life insurance (36 vs. 28%, p=0.12). Life and health insurance policies purchased just before testing was reported by 3 and 2% of the subjects, respectively. Life and health insurance policies purchased after testing were reported by 3 and <1% respectively, and planned purchase by 3 and 2%, respectively. No statistically significant differences were found between the groups defined by mutation status in reports of life or health insurance behaviour during or after the programme. CONCLUSION: According to self-reported data, the mutation-positive subjects did not differ from the others in the purchase of life or health insurance policies. However, the mutation-positive individuals reported that they possessed health insurance policies before entering the study more often than their counterparts.