The urgency for a change in genetics healthcare provision: views from Portuguese medical geneticists.

In the last decades, genetics has experienced significant technological advancements worldwide. However, in Portugal, serious limitations persist, compromising the functioning of healthcare in medical genetics. This study aimed to promote sharing and discussion among genetic medical professionals, to outline concrete actions to address gaps in clinical practice. Three focus groups were conducted with 19 specialists in medical genetics. The data were analyzed using the thematic analysis method to extract the main themes from the discussions. From the analysis, four conceptual themes emerged: (i) framing Portuguese genetic services in light of the European context; (ii) improvement of medical genetics education and population literacy; (iii) transforming of medical genetics services; and (iv) operationalizing the change. The results demonstrated that increasing training resources and strengthening multiprofessional teams by hiring more genetic professionals, such as clinical geneticists, molecular geneticists, and other genetic specialists, is crucial to enhancing the responsiveness of genetic services. Integrating medical genetics into all specialties and primary care, as well as updating the national network of medical genetics, are critical points for increasing equity and enabling healthcare to be provided more fairly. Including other medical genetics professionals such as genetic counsellors, nurses and psychologists also plays a significant role in providing comprehensive and quality care. This collaborative approach aims to provide effective genetic assistance and enhance the adequacy of genetic healthcare. The findings are compiled as recommendations to support the profession moving forward that can be applied to other healthcare contexts worldwide.

Concepções sobre saúde mental infantojuvenil de enfermeiros da Estratégia Saúde da Família / Family health strategy nurses'conceptions of child-adolescent mental health / Concepciones sobre la salud mental de niños y adolescentes de las enfermerías de la estrategia de salud familiar

Visando analisar as concepções sobre a saúde mental infantojuvenil de enfermeiros da Estratégia Saúde da Família, este estudo, de natureza descritivo qualitativa, foi realizado com 47 enfermeiras, nas Unidades de Saúde da Família de João Pessoa PB, e partiu dos pressupostos das Políticas Públicas de Atenção à Saúde Mental para crianças e adol escentes Para coletar os dados utilizaram se um questionário sociodemográfico e entrevistas semiestruturadas, analisadas por meio da Análise Categorial Temática de Bardin, das quais emergiram uma classe temática, três categorias e sete subcategorias. Os resultados apontaram que as concepções sobre a SMI se pautam no modelo biomédico, sem ênfase na promoção da saúde e com pouca especificidade e familiaridade com questões relativas à saúde mental dessa população.

In order to analyze Family Health Strategy nurses' conceptions of child adolescent mental health, this descriptive qualitative study was conducted with 47 nurses, in the Family Health Units of João Pessoa PB, and started from the assumptions of the Public Policies of Mental Health Care for children and adolescents. Data were collected using a questionnaire, which captured the sociodemographic data, and semi structured interviews were analyzed through Bardin's Thematic Categorical Analysis, which originated a thematic class, three categories and seven subcategories. The results showed that the conceptions a re based on the biomedical model, with no emphasis on health promotion and with little specificity and familiarity with issues related to the mental healt h of this population.

Con el fin de analizar las concepciones sobre la salud mental de niños y adolescentes en las enfermer í as de la Estrategia de Salud Familiar, este estudio descriptivo cualitativo se llevó a cabo con 47 enfermeras, en Unidades de Salud Familiar de Joao Pesso a PB, a partir de los supuestos de las Políticas Públicas de Atención de Salud Mental para niños y adolescentes. Para recopilar los datos, se utilizó un cuestionario, que capturó los datos sociodemográficos, y entrevistas semiestructuradas, analizadas a tr avés del Análisis Categórico Temático de Bardin, de la que surgieron una clase temática, tres categorías y siete subcategorías. Los resultados mostraron que las concepciones sobre SMNA se basan en el modelo biomédico, sin énfasis en la promoción de la salu d y con poca especificidad y familiaridad con los temas relacionados con la salud mental de esta población.

Quality-of-life outcomes of a weight management program for adolescents based on motivational interviewing.

OBJECTIVE: To compare motivational interviewing (MI) with conventional care regarding the health-related quality-of-life (HRQoL) of adolescents with overweight/obesity. METHODS: RCT with parallel design, involving two groups: intervention group (MI group [MIG]) and control group (conventional intervention group [CIG]). The intervention included three 30-minute interviews 3 months apart. OUTCOME: Change in Pediatric Quality of Life Inventory (PedsQL) scores. A mixed repeated-measures analysis of variance was used to assess group versus time interactions. RESULTS: Eighty-three participants finished the protocol (82% girls). MIG participants showed a significant average increase (+4.7) on the Psychosocial (t[41] = -2.388, p = .022, d = .37) and Emotional Subscales (+5.1) (t[41] = 5.733, p < .001, d = .88). CIG participants showed a significant average decrease on the Psychosocial (-6.1) (t[40] = 5.733, p < .001, d = .90), Emotional (-14.1) (t[40] = 7.249, p < .001, d = 1.13) and Social Subscales (-3.8) (t[40] = 3.782, p = .001, d = .59) and on the Total Score (-4.4) (t[40] = 3.535, p = .001, d = .55) CONCLUSION: MI improved HRQoL among overweight adolescents participating in a weight management program. PRACTICE IMPLICATIONS: MI increases HRQoL and has the potential to benefit weight management programs for adolescents.

Preditores motivacionais de adesão à prevenção do câncer do colo do útero em estudantes universitárias / Motivational predictors of adherence to cervical cancer prevention among female college students

Este estudo analisou o papel das variáveis motivacionais na adesão à prevenção do câncer do colo do útero. Participaram da pesquisa 399 estudantes universitárias que responderam a um questionário em que avaliaram fatores de adesão à prevenção do câncer, incluindo variáveis sociodemográficas, nível de conhecimento sobre o câncer e variáveis motivacionais. Os resultados mostraram que as variáveis motivacionais explicam de 34% a 54% da variância (p < 0,001) da intenção de adesão aos comportamentos de prevenção (exames de Papanicolau, uso de preservativo e restrição do número de parceiros sexuais) e são também um preditor significativo do envolvimento efetivo nesses comportamentos (odds ratios: 0,33 - 5,83; p < 0,05). O estudo evidencia a importância de considerar quer as variáveis motivacionais facilitadoras (autoeficácia e construção da intenção de adesão), quer as debilitantes (custos emocionais) no planejamento e avaliação de intervenções de educação para a saúde, com vistas a maximizar a adesão à prevenção do câncer do colo do útero.

This study examined the role of motivation in young women's adherence to cervical cancer prevention. A total of 399 college female students completed a questionnaire that assessed a variety of factors influencing adherence to cancer prevention, including sociodemographic, knowledge and motivational variables. Results showed that motivation significantly predicted the intention to engage in the various preventive behaviors (Pap test, use of condoms, and restriction of the number of sexual partners), explaining 34% to 54% of the variance (p < 0.001), as well as the effective engagement in those preventive behaviors (odds ratio between 0.33 - 5.83; p < 0.05). These findings have important implications for designing and evaluating health education interventions to increase adherence to cervical cancer prevention by suggesting they should target both enhancing facilitating motivation (specifically, self-efficacy and building intention to engage in preventive behaviors) and decreasing debilitating motivation (specifically, emotional costs), thereby maximizing program efficacy.

[Proposal of a Portuguese Tool for Quality Assessment of Genetic Counselling: a New Tool for Healthcare Professionals]. / Proposta de Uma Escala Portuguesa para a Avaliação da Qualidade do Aconselhamento Genético: Uma Nova Ferramenta para os Profissionais da Saúde.

INTRODUCTION: The lack of tools for quality assessment of genetic counselling is recognized in national and international studies. The correlation of quality of healthcare practice with greater satisfaction of patients and affected families is also well established. The present study describes the development and validation of the first Portuguese scale for quality assessment of genetic counselling practice. It encompasses a proposal of a new tool for the evaluation of the process by professionals. MATERIAL AND METHODS: The definition of an initial pool of items and their organization was based on a literature review and identification of the main genetic counselling dimensions as well as the theoretical dimensions of the Reciprocal Engagement Model. After a pre-test validation the scale was submitted to psychometric validation using a sample of 30 participants who evaluated 81 genetic counselling sessions. RESULTS: Based on statistical and empirical criteria the best items were selected. The final 50 items- version comprises five dimensions: education, counselees' characteristics and decision-making, therapeutic relationship, effects of the process on the counselees and services organization. DISCUSSION: Results showed consistent psychometric properties of the scale supported on theoretical and practice concepts of genetic counseling. The reduced number of participants involved in psychometric validation is a limitation of the study, which reflected the reduced number of professionals in genetic healthcare services. CONCLUSION: The scale proposed at this study is a novel and multidimensional instrument that aimed to contribute to the improvement of genetic counselling practice in Portugal.

Introdução: A falta de ferramentas para avaliar a qualidade do aconselhamento genético é uma limitação reconhecida em estudos nacionais e internacionais. É conhecida também a relação da qualidade da prática nos cuidados de saúde com uma maior satisfação dos doentes e das famílias afetadas. O seguinte estudo apresenta a construção e validação da primeira escala portuguesa para avaliação da qualidade da prática do aconselhamento genético. Engloba uma proposta de ferramenta para a avaliação do processopelos próprios profissionais.Material e Métodos: Iniciou-se este estudo pela revisão da literatura e identificação das principais dimensões do aconselhamento genético. De seguida, procedeu-se à elaboração dos itens e à sua organização mediante as dimensões teóricas do Modelo do Envolvimento Recíproco. Após um pré-teste alcançou-se a versão que foi proposta para validação a uma amostra de 30 participantes, que avaliaram 81 sessões de aconselhamento genético.Resultados: Através de critérios estatísticos e empíricos selecionaram-se os melhores itens, ficando a escala constituída por 50 itens. Esta versão da escala compreende cinco dimensões: educação, características do consultando e tomada de decisão, relação terapêutica, efeitos do processo no consultando e organização do serviço.Discussão: Os resultados mostraram que se trata de uma escala válida, com características psicométricas consistentes e fundamentada em simultâneo do ponto de vista teórico-prático do aconselhamento genético. O número reduzido de participantes envolvidos na validação da escala constitui uma limitação, que reflete o número reduzido de profissionais a exercer nesta área dos cuidados de saúde.Conclusão: A escala proposta neste estudo é um instrumento pioneiro, multidimensional que pretende contribuir para a qualidade da prática do aconselhamento genético em Portugal.

Anthropometric outcomes of a motivational interviewing school-based randomized trial involving adolescents with overweight.

Motivational interviewing (MI) is an effective method to promote weight loss that can be delivered by non-mental health providers. The aim of this study was to evaluate whether MI was superior to conventional counseling to improve the anthropometric outcomes of adolescents with obesity/overweight. It was a controlled cluster randomized trial with parallel design in a school setting. The study included two groups: Motivational Interviewing Group (MIG) and control group (Conventional Intervention Group, CIG). Students participated in three face-to-face 30-min interviews, 3 months apart. Outcomes were BMI z-score, abdominal circumference, percentages of fat mass and muscle mass, and blood pressure. Sessions were coded with the Motivational Interviewing Treatment Integrity (MITI) manual. Mixed repeated-measures ANOVAs were used to assess the group versus time interaction. Effect sizes were calculated for each ANOVA with eta-squared measures (η2). Eighty-three adolescents finished the protocol. While MIG participants showed a significant improvement in all anthropometric scores at 6 months, CIG participants showed an unfavorable change in those variables.Conclusion: Our results provide additional evidence of the short-term usefulness of a school-based MI intervention on anthropometric outcomes of adolescents with obesity/overweight, demonstrating that pediatricians can play an important role in the prevention and management of pediatric obesity.Trial registration: The study is called IMAGINE and is registered in Clinicaltrials.gov with the number NCT02745795. What is Known: • Although MI has been recognized as an effective counseling style for behavioral change in weight loss, there are few reports about the anthropometric outcomes of interventions with adolescents being treated for obesity/overweight. • Our study showed significant positive changes in anthropometric variables (BMI z-score, abdominal circumference, percentage of fat mass, percentage of muscular mass, systolic and diastolic blood pressure) after only three face-to-face sessions over 6 months. What is New: • MI delivered by non-mental health providers in a school setting seems to have short-term usefulness in a program aiming the treatment of obese/overweight adolescents.

Effect of Motivational Interviewing on depression scale scores of adolescents with obesity and overweight.

The aim of this study was to compare the effect of motivational interview (MI) with conventional care on the depression scale scores of adolescents with obesity/overweight. It was a controlled cluster randomized trial with parallel design, including two groups: intervention group [Motivational Interview Group (MIG)], control group [Conventional Intervention Group (CIG)]. INTERVENTION: three face-to-face 30min' interviews three months apart (only MIG interviews were based on MI principles). OUTCOMES: change in Children Depression Inventory (CDI) scores. We used a mixed repeated-measures ANOVAs analysis to assess the group vs time interaction. Effect size was calculated for ANOVA with difference of means of the total score (DOMTS). CDI scores were compared by a paired t-test. Eighty-three (84%) adolescents finished the intervention. There was a significant time vs group interaction both groups. While in the CIG scores significantly increased, in the MIG the scores significantly decreased. The DOMTS was significantly different between the two groups. We concluded that MI showed a positive effect on depression scale scores over time relatively to conventional intervention.

Facing a patient who seeks help after a suicide attempt: the difficulties of health professionals.

BACKGROUND: Although intervention with suicidal patients is one of the hardest tasks in clinical practice, little is known about health professionals' perceptions about the difficulties of working with suicidal patients. AIMS: The aims of this study were to: (1) describe the difficulties of professionals facing a suicidal patient; (2) analyze the differences in difficulties according to the sociodemographic and professional characteristics of the health professionals; and (3) identify the health professionals' perceived skills and thoughts on the need for training in suicide. METHOD: A self-report questionnaire developed for this purpose was filled out by 196 health professionals. Exploratory principal components analyses were used. RESULTS: Four factors were found: technical difficulties; emotional difficulties; relational and communicational difficulties; and family-approaching and logistic difficulties. Differences were found between professionals who had or did not have training in suicide, between professional groups, and between the number of patient suicide attempts. Sixty percent of the participants reported a personal need for training and 85% thought it was fundamental to implement training plans targeted at health professionals. CONCLUSION: Specific training is fundamental. Experiential and active methodologies should be used and technical, relational, and emotional questions must be included in the training syllabus.

Maternal Coping Strategies in Response to a Child's Chronic and Oncological Disease: a Cross-Cultural Study in Italy and Portugal.

A child's oncological or chronic disease is a stressful situation for parents. This stress may make it difficult for appropriate management strategies aimed at promoting the child's wellbeing and helping him or her cope with a disease to be adopted. In particular, this study focuses on the possible connections between the variable national cultural influences and the parental strategies used to cope with a child's severe disease by comparing the experiences of Italian and Portuguese mothers. The study investigates differences and cross-cultural elements among the coping strategies used by Italian and Portuguese mothers of children with oncological or chronic disease. Two groups of mothers took part: 59 Italian mothers (average age 37.7 years; SD=4.5) and 36 Portuguese mothers (average age 39.3 years; SD=4.6). The tool used was the Italian and the Portuguese versions of the COPE inventory that measures five coping strategies: Social Support, Avoidance Coping, Positive Aptitude, Religious Faith and Humor, Active Coping. There were statistically significant differences between Portuguese and Italian mothers regarding Social Support (F(3, 94)=6.32, P=0.014, ɳ(2)=0.065), Religious Faith and Humor (F(3, 94)=20.06, P=0.001, ɳ(2)=0.18, higher values for Portuguese mothers) and Avoidance Coping (F(3, 94)=3.30, P=0.06, ɳ(2)=0.035, higher values for Italian mothers). Regarding child's disease, the only statistically significant difference was in Religious Faith and Humor (F(3, 94)=7.49, P=0.007, ɳ(2)=0.076, higher values for mothers of children with chronic disease). The findings of specific cultural transversalities provide the basis for reflection on important factors emerging on the relationship between physicians and parents. In fact, mothers' coping abilities may allow health workers involved in a child's care not only to understand how parents face a distressful event, but also to provide them with professional support.

Psychometric properties of the Social Skills Questionnaire: Portuguese adaptation of the student form (grades 7 to 12).

The present study aims to analyze the psychometric properties of the student form (Grades 7 to 12) of the Social Skills Questionnaire authored by Gresham and Elliott (1990), on a sample of Portuguese adolescents. Participants included 573 students, both female and male, aged 14 to 19. Reliability was assessed through Cronbach's alpha and was .87 for the total scale, ranging from.58 to .72 for the subscales. A confirmatory factor analysis revealed that the main adjustment indices presented unexpected values. A principal components analysis indicated that several items of the cooperation subscale correlated with other factors. Adequate adjustment indices were found when cooperation was removed from the model. Semantic dualities due to cultural factors and difficulties assuming the cooperation dimension as an independent dimension might explain the results observed. The reorganization of the SSQ offers a reliable and valid instrument for research within the Portuguese population.

The psychological adjustment of children with asthma: study of associated variables.

As part of a larger research project aimed to understand the impact of asthma in the psychological adjustment of children, this study focuses in the identification of factors associated with this process. The sample of this study consisted of 89 children, aged 8 to 12 with physician diagnosed asthma. To assess children's adjustment, the Portuguese versions of the following instruments were used: School-age Temperament Inventory (McClowry, 1995) Schoolagers Coping Strategies Inventory (Ryan-Wenger, 1990); Pediatric Quality of Life Inventory - PedsQL (Varni, Seid & Kurtin, 2001); The Self-perception Profile for Children (Harter, 1985), Child Behavior Checklist (Achenbach, 1991); Social Skills Rating System (Gresham & Elliot, 1990). The results revealed that negative reactivity predicts the level of anxiety/depression, task persistence and perceived coping efficacy predicts social skills and that self-esteem is a significant predictor of the perceived quality of life. A significant proportion of shared variance was also found what seems to confirm the existence of multi-determination in the process of adjustment. The main conclusion is that two dimensions of temperament (negative reactivity and task persistence), as well as perceived coping efficacy and self-esteem, play a significant role in influencing the psychological adjustment of children with asthma.

A avaliação da competência social: versão portuguesa da forma para professores do SSRS / The assessment of social competence: portuguese adaptation of the SSRS (teacher form ) to children

O trabalho de investigação aqui apresentado teve um duplo objetivo: explorar as dimensões da competência social em crianças portuguesas e adaptar um instrumento de avaliação válido para a investigação e intervenção nesta área e utilizável em contexto escolar. Nesse sentido, o presente estudo examinou a estrutura fatorial e a consistência interna da escala para professores do Social Skills Rating System - nível básico, de Gresham e Elliott (1990) em 342 alunos do 3º e 6º anos de escolaridade. Este instrumento destina-se a avaliar a competência social, baseando-se numa perspectiva multidimensional. Os resultados apóiam uma concepção multifacetada da competência social e são semelhantes aos apresentados em estudos prévios.(AU)

A avaliaçäo da competência social: versäo portuguesa da forma para professores do SSRS / The assessment of social competence: portuguese adaptation of the SSRS (teacher form ) to children

O trabalho de investigaçäo aqui apresentado teve um duplo objetivo: explorar as dimensöes da competência social em crianças portuguesas e adaptar um instrumento de avaliaçäo válido para a investigaçäo e intervençäo nesta área e utilizável em contexto escolar. Nesse sentido, o presente estudo examinou a estrutura fatorial e a consistência interna da escala para professores do Social Skills Rating System - nível básico, de Gresham e Elliott (1990) em 342 alunos do 3º e 6º anos de escolaridade. Este instrumento destina-se a avaliar a competência social, baseando-se numa perspectiva multidimensional. Os resultados apóiam uma concepçäo multifacetada da competência social e säo semelhantes aos apresentados em estudos prévios.