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1.
Trauma Violence Abuse ; : 15248380231223264, 2024 Jan 28.
Artículo en Inglés | MEDLINE | ID: mdl-38281152

RESUMEN

This article aimed to provide a systematic narrative synthesis of existing studies on the mediators of change in psychotherapy with adolescents (10-19 years) and transition age youth (TAY) (20-29 years) who have experienced trauma-related symptoms or posttraumatic disorder. Additionally, we were interested in identifying psychotherapy-, trauma type-, and clients' age- and gender-specific mediators of treatment outcome. Following the preferred reporting items for systematic reviews and meta-analyses, a total of 3,723 studies published in PubMed and PsycINFO databases were screened against inclusion criteria, revealing 15 eligible studies. No studies with only TAY were found; therefore, all results were limited to therapy with adolescents. Cognitive mediators were tested in 66% of selected studies, followed by parents/family-related, mental-health-related, therapy-related, and behavioral mediators. Moderate evidence was found for posttraumatic cognitions, whereas therapeutic alliance seemed to be a promising candidate for future research. Striking absence of non-cognitive-behavioral therapy interventions, emotional and adolescent-specific mediators, as well as studies with males and in non-Western societies was evident. Future original studies would benefit from applying methodological rigor in respect to mediation testing.

2.
Eur J Med Genet ; 67: 104908, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38143024

RESUMEN

In recent years, there has been a significant technological evolution in the field of genetics, leading to an increase in the number of professionals working in medical genetics and, consequently, a tremendous growth in genetic counselling. At the same time, there has been a growing recognition of the parameters on which to base a safe practice, not only regarding the technical skills of the professional but also regarding their counselling skills, including relational and empathy skills and the acknowledgement of the emotional impact that genetic counselling practice can have. However, despite this growing knowledge, there are still significant differences between the various European countries, and one area where this discrepancy is particularly evident is genetic counselling supervision. Thus, if there are countries where genetic counselling supervision is not even known by the professionals, there are others where it is mandatory for practice. This research had as an objective to understand if and how genetic counselling supervision is provided in Portugal, to identify routines, challenges and impacts of genetic counselling that should be explored in a supervision process and comprehend how professionals believe supervision should be conducted to be effective. A total of sixteen medical geneticists from main Portuguese genetic services were present in two online focus groups. None of the participants had access to genetic counselling supervision as a programmed routine and there was a consensus that a service of this kind would be particularly important for the professionals as genetic counselling has frequently challenging and emotional moments. Aspects regarding clinical supervision, the characteristics of the supervisor and the practical aspects of genetic counselling supervision implementation were also mentioned during the discussions. These results highlight the relevancy of the establishment of GC supervision routines and standardized guidelines in our country, as well as a need for evidence-based research focused on its impact at professional and practice level.


Asunto(s)
Asesoramiento Genético , Personal de Salud , Humanos , Portugal , Atención a la Salud , Europa (Continente)
3.
Artículo en Inglés | MEDLINE | ID: mdl-37591725

RESUMEN

INTRODUCTION: Innovative moments (IMs) pinpoint new and more adaptative meanings that emerge in clients' discourse during psychotherapy. Studies with adult clients have found a greater proportion of IMs in recovered compared to unchanged cases, but similar studies have yet to be conducted with adolescents. AIMS: The paper aims (1) to study retrospectively the emergence of IMs in therapy, using a post-therapy interview, in adolescents that underwent psychotherapy for depression, and (2) to characterize the themes present in IMs identified retrospectively in the interviews. METHOD: Semi-structured post-treatment interviews conducted with 24 adolescents on the experience of taking part in a clinical trial of youth depression, were coded using the Innovative Moments Coding System. After identifying IMs, a thematic analysis identified the prominent themes within them. RESULTS: Higher presence of IMs were found in recovered compared to unchanged cases. Two main themes emerged in the IMs, changes that occurred with therapy and attributions of changes. Recovered cases presented more IMs centred on the self, whereas unchanged cases identified more non-specific changes. CONCLUSION: This study suggests that it is possible to code IMs, identified retrospectively, based on post-therapy interviews with adolescents. Meaningful differences were found between recovered compared to unchanged cases. Therapeutic recovery was associated with a higher focus on the self and more specificity in clients' representations of the change process.

5.
Artículo en Inglés | MEDLINE | ID: mdl-36918434

RESUMEN

Psychotherapeutic treatment of adolescents requires age-specific approaches and thus plausibly also involves different change mechanisms than adult psychotherapy. To guide further research and improve therapeutic outcomes for adolescents, we reviewed all RCTs investigating mechanisms of change in the psychological treatment of adolescents to identify the most promising age-, disorder- or treatment-specific mediators. Following the preferred reporting items for systematic reviews (PRISMA), 106 studies were included that reported 252 statistical mediation tests assessed with 181 different measures. Most often studied and significant mediators were cognitive, followed by family-related, and behavioral variables. Several mediators were identified to be promising for future investigations: changes in negative thoughts, dysfunctional beliefs and metacognitive skills; family functioning and parenting skills; as well as successful engagement in therapy activities and increased impulse control. Symptom change during therapy was least often a mediator for other therapeutic changes. Relational and emotional mediators were largely understudied, whereas peer-influence appeared a promising mediator for intervention outcomes. Adolescence-specific mediators were most commonly investigated. Majority of studied mediators were not disorder-specific. There was a tendency to mainly test change mechanisms of specific theoretical models without considering other possible change theories. Further, virtually no studies fulfilled all criteria for rigorously investigating mediation and only nine were classified with an overall good study quality. While bearing in mind the current limitations in study designs, methodological rigor and reporting, there appears to be substantial evidence for transdiagnostic age-specific change models in the psychological treatment of adolescents. For future research, need for consensus on a core set of transdiagnostic and transtheoretical mediators and measures is highlighted. These should address likely core mechanisms of change, as well as take into account age-relevant developmental challenges and biological markers.

6.
Pathogens ; 12(2)2023 Jan 17.
Artículo en Inglés | MEDLINE | ID: mdl-36839422

RESUMEN

In September 2021, Bagaza virus (BAGV), a member of the Ntaya group from the Flavivirus genus, was detected for the first time in Portugal, in the heart and the brain of a red-legged partridge found dead in a hunting ground in Serpa (Alentejo region; southern Portugal). Here we report the genomic characterization of the full-length sequence of the BAGV detected (BAGV/PT/2021), including phylogenetic reconstructions and spaciotemporal analyses. Phylogenies inferred from nucleotide sequence alignments, complemented with the analysis of amino acid alignments, indicated that the BAGV strain from Portugal is closely related to BAGV strains previously detected in Spain, suggesting a common ancestor that seems to have arrived in the Iberia Peninsula in the late 1990s to early 2000s. In addition, our findings support previous observations that BAGV and Israel turkey meningoencephalitis virus (ITV) belong to the same viral species.

7.
Artículo en Inglés | MEDLINE | ID: mdl-36554475

RESUMEN

Family reunification is a complex process and is consensually considered the best solution for children in care, as soon as the family has changed the dysfunctional patterns that prevent child safety and well-being. Intervention throughout the entire process is crucial to the success of family reunification. This study aimed to explore and understand child protection professionals' views on factors influencing (un)successful family reunification trajectories. Using a qualitative design, 33 Portuguese child protection professionals participated in five focus groups. The thematic analysis revealed a set of influential factors within three different systemic levels: child, family, and child welfare system. The latter level was clearly predominant, pointing to the powerful role of the intervention as a vehicle for successful family reunification. The results showed the relevance attributed by the professionals to some main intervention guidelines, children-professionals' relationships, multisystemic assessment and intervention, coordinated work of intervention teams, and sufficient time between the court decision and the child's re-entry into the family home. The need for early intervention and its continuity after the child's reintegration into the home also emerged as relevant factors. This study provides in-depth knowledge of professionals' views on the intervention process, thus contributing to a comprehensive understanding of (un)successful family reunification trajectories.


Asunto(s)
Conducción de Automóvil , Protección a la Infancia , Niño , Humanos , Grupos Focales , Etnicidad , Intervención Educativa Precoz , Investigación Cualitativa , Familia
8.
Artículo en Inglés | MEDLINE | ID: mdl-36141556

RESUMEN

Effective psychological parenting interventions delivered to adoptive parents may prevent serious adjustment difficulties and promote a healthy functioning; however, less is known about adoptive parents' specific parental difficulties and help-seeking behaviors and perceptions, the understanding of which is deemed necessary to design well-informed interventions. This study aimed to describe parental difficulties, help-seeking behaviors, satisfaction with, and perceived barriers to seek, professional help, and acceptability of psychological parenting interventions among Portuguese adoptive parents. Comparisons with biological parents (Study 1) and between adoptive parents that requested adoption-specialized and non-specialized support (i.e., adoption-specialized vs. non-specialized help-seekers) (Study 2) were explored. A cross-sectional online survey was conducted. Participants were 471 adoptive and 552 biological parents of children aged under 18 years who were recruited through schools, adoption agencies, and social networks. They completed measures assessing parental difficulties, help-seeking behaviors, satisfaction with, and perceived barriers to seek, professional help, and acceptability of psychological parenting interventions. Comparison tests between the study groups, Pearson's correlations, analyses of covariance (ANCOVA) and multivariate logistic regressions (MLR) were performed. Parents' well-being and normative parenting challenges were the most frequent difficulties in both groups, but only associated with adoptive parents' help-seeking. Although difficulties related to a child's problems/parent-child relationship were more frequent among adoptive parents, adoption-related difficulties were rarely reported. Adoptive parents sought professional help more frequently, regardless of parental difficulties. Knowledge-related barriers to seeking help were the most frequent among adoptive parents. Adoption non-specialized help was less satisfactory. Acceptability of psychological parenting interventions was high, but dependent on parental difficulties. Implications for post-adoption services' development are discussed.


Asunto(s)
Conducta de Búsqueda de Ayuda , Adolescente , Estudios Transversales , Humanos , Relaciones Padres-Hijo , Responsabilidad Parental/psicología , Portugal
9.
Front Psychol ; 12: 703095, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34616334

RESUMEN

Background: Personality disorders (PDs) are a severe health issue already prevalent among adolescents and young adults. Early detection and intervention offer the opportunity to reduce disease burden and chronicity of symptoms and to enhance long-term functional outcomes. While psychological treatments for PDs have been shown to be effective for young people, the mediators and specific change mechanisms of treatment are still unclear. Aim: As part of the "European Network of Individualized Psychotherapy Treatment of Young People with Mental Disorders" (TREATme), funded by the European Cooperation in Science and Technology (COST), we will conduct a systematic review to summarize the existing knowledge on mediators of treatment outcome and theories of change in psychotherapy for young people with personality disorders. In particular, we will evaluate whether mediators appear to be common or specific to particular age groups, treatment models, or outcome domains (e.g., psychosocial functioning, life quality, and adverse treatment effects). Method: We will follow the reporting guidelines of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement recommendations. Electronic databases (PubMed and PsycINFO) have been systematically searched for prospective, longitudinal, and case-control designs of psychological treatment studies, which examine mediators published in English. Participants will be young people between 10 and 30years of age who suffer from subclinical personality symptoms or have a personality disorder diagnosis and receive an intervention that aims at preventing, ameliorating, and/or treating psychological problems. Results: The results will be published in a peer-reviewed journal and at conference presentations and will be shared with relevant stakeholder groups. The data set will be made available to other research groups following recommendations of the open science initiative. Databases with the systematic search will be made openly available following open science initiatives. The review has been registered in PROSPERO (evaluation is pending, registration number ID 248959). Implications: This review will deliver a comprehensive overview on the empirical basis to contribute to the further development of psychological treatments for young people with personality disorders.

10.
Cells ; 10(8)2021 08 16.
Artículo en Inglés | MEDLINE | ID: mdl-34440869

RESUMEN

Commercial hare and rabbit immortalized cell lines are extremely limited regarding the many species within the lagomorpha order. To overcome this limitation, researchers and technicians must establish primary cell cultures derived from biopsies or embryos. Among all cell types, fibroblasts are plastic and resilient cells, highly convenient for clinical and fundamental research but also for diagnosis, particularly for viral isolation. Here, we describe a fast and cheap method to produce primary fibroblast cell cultures from leporid species, using dispase II, a protease that allows dermal-epidermal separation, followed by a simple enzymatic digestion with trypsin. This method allows for the establishment of an in vitro cell culture system with an excellent viability yield and purity level higher than 85% and enables the maintenance and even immortalization of leporid fibroblastic cells derived from tissues already differentiated.


Asunto(s)
Fibroblastos/citología , Cultivo Primario de Células/métodos , Piel/citología , Animales , Biomarcadores/metabolismo , Separación Celular , Supervivencia Celular , Endopeptidasas/metabolismo , Fibroblastos/metabolismo , Lagomorpha , Tripsina/metabolismo
11.
Front Psychol ; 12: 708436, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34367033

RESUMEN

INTRODUCTION: Anxiety and depressive disorders are a significant problem that starts in childhood or adolescence and should be addressed early to avoid chronic mental conditions. There is strong evidence to demonstrate that psychological treatments are effective for these disorders, however, little is known on mediators and mechanisms of change of psychological treatment in adolescents and young adults. Understanding the pathways through which psychological treatments operate will facilitate more effective treatments. AIM: We aim to conduct a systematic review, exploring the available evidence on mediators of psychological treatments for anxiety and depression in adolescents and young adults. METHODS: A systematic search has been performed on PubMed and PsycINFO databases to identify studies from inception to 23rd February 2020. Eligible studies include randomized controlled trials and trials (quasi-experimental) designs that have enrolled adolescents and young adults presenting with depression and/or anxiety and that have examined mediators of psychological treatments. A group of 20 reviewers from the COST-Action TREATme (CA16102) divided into 10 pairs independently screen studies for inclusion, extract information from the included studies, and assess the methodological quality of the included studies and the requirements for mediators. The methodological quality will be assessed by The Mixed Methods Appraisal Tool. Extracted data from the included studies will be collected and presented using a narrative approach. DISCUSSION: This systematic review will summarize and provide a comprehensive overview of the current evidence on mediators of psychological treatments for anxiety and depression for adolescents and young adults. Results will allow the identification of strategies to optimize intervention to enhance clinical outcomes. ETHICS AND DISSEMINATION: Ethics approval is not required. Findings from this systematic review will be published in a peer-reviewed journal and disseminated at conferences and meetings. PROSPERO registration number: CRD42021234641.

12.
Aletheia ; 54(1): 6-15, jan.-jun. 2021. ilus
Artículo en Portugués | LILACS-Express | LILACS, Index Psicología - Revistas | ID: biblio-1285014

RESUMEN

RESUMO O objetivo deste estudo é identificar como a adoção aparece nas histórias de vida de indivíduos adotados e como eles normalizam suas experiências relacionadas à adoção. Focaliza-se a re-historiação do "eu" na narrativa e considera-se que o seu final é determinado por quem constrói a narrativa, não por eventos relatados cronologicamente. Os dados provêm das narrativas de dois indivíduos adotados, transcritas segundo convenções utilizadas na Análise da Conversa Etnometodológica, nas quais se destaca a presença dos eventos relacionados à adoção na re-historiação dos pesquisados e na constituição de seus "eus" parciais, considerando também as características rítmicas e outras propriedades da fala em interação. Foi possível constatar que o final da história influencia na maneira como a narrativa é construída e como as experiências de adoção aparecem nas narrativas, com maior ou menor grau de normalização a elas atribuído.


ABSTRACT This study aims at identifying how adoption appears in life stories of adopted individuals and how much they normalize their experiences related to adoption. Focus is given to the process of re-historization of the "I", and the end of a narrative is taken as determined by its author instead of the events that are told chronologically. The data comes from narratives of two adopted individuals, transcribed according to Etnomethodological Conversation Analysis. It is pointed out how the events related to adoption appear, when both individuals re-historize their life stories and their partial "I" is constituted. Rhythmical properties and other characteristics of speech are considered in the investigation as well. It was found that the story ending influences on how the narrative is constructed and on how much normalized events related to adoption appear.

13.
Syst Rev ; 10(1): 68, 2021 03 05.
Artículo en Inglés | MEDLINE | ID: mdl-33766137

RESUMEN

BACKGROUND: The care of the emergency department (ED) for a person after a suicide attempt can act as a protector against future suicidal behavior. For this reason, it is essential that the ED ensure an assistance that involves effective interventions in preventing suicidal behaviors. Among suicidal behaviors, it is known that suicide attempt is one of the most lethal risk factors for consummated suicide. In addition, the risk for further attempts is greater in the period from the immediate post-discharge up to 12 months after the last attempt. This makes the ED a key link in the suicide prevention chain. The purpose of this review is to investigate the effects of psychosocial interventions on suicide prevention, when applied in the ED after a suicide attempt. METHODS: This systematic review protocol was built and registered with the collaboration of a multidisciplinary scientific team. The review will include randomized clinical studies, quasi-experimental trials, and comparative observational studies, all conducted with people (11 years old or more) who have received a psychosocial suicide prevention intervention initiated in the ED after a suicide attempt. The research will be conducted across databases such as Cochrane Library, PubMed, EMBASE, PsycINFO, and DARE. The repetition of a suicide attempt and death by suicide as primary outcomes will be analyzed. The eligibility of the studies and data extraction will be carried out by matched and blind researchers. The risk of bias will be addressed using appropriate instruments. The analyses and synthesis of the results will be both qualitative and quantitative. DISCUSSION: From a public health point of view, suicide is in itself a public health problem and requires appropriate interventions at different levels of care in order to be prevented. Taking into account that a high percentage of people who died by suicide sought the ED for suicide attempt in the year before their death, the ED is a clinical context with a privileged potential to implement these interventions. Presently, several clinical studies seek to validate interventions to be adopted regarding the prevention of suicidal behavior. Current evidence indicates that different interventions must be strategically combined to reduce suicide attempts and their mortality. SYSTEMATIC REVIEW REGISTRATION: PROSPERO registration number CRD42019131040.


Asunto(s)
Cuidados Posteriores , Intento de Suicidio , Niño , Servicio de Urgencia en Hospital , Humanos , Alta del Paciente , Intervención Psicosocial , Ideación Suicida , Revisiones Sistemáticas como Asunto
14.
BMJ Open ; 11(3): e042411, 2021 03 05.
Artículo en Inglés | MEDLINE | ID: mdl-33674369

RESUMEN

INTRODUCTION: Approximately 75% of mental disorders emerge before the age of 25 years but less than half receive appropriate treatment. Little is known about the mechanisms underlying the therapeutic change of adolescents in psychotherapy. The 'European Network of Individualised Psychotherapy Treatment of Young People with Mental Disorders', funded by the European Cooperation in Science and Technology, will conduct the first systematic review to summarise the existing knowledge on mediators and theories of change in psychotherapy for adolescents. METHOD: A systematic review will be conducted, conforming to the reporting guidelines of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement recommendations. Electronic databases (PubMed and PsycINFO) have been systematically searched on 23 February 2020, for prospective, longitudinal and case-control designs which examine mediators of change. Participants will be adolescents between 10 and 19 years of age who suffer from a mental disorder or psychological difficulties and receive an intervention that aims at preventing, ameliorating and/or treating psychological problems. ETHICS AND DISSEMINATION: Ethical approval is not required for this systematic review as no primary data will be collected. The results will be published in a peer-reviewed journals and at conference presentations and will be shared with stakeholder groups. The whole data set will be offered to other research groups following recommendations of the open science initiative. Databases with the systematic search will be made openly available following open science initiatives. PROSPERO REGISTRATION NUMBER: CRD42020177535.


Asunto(s)
Trastornos Mentales , Psicoterapia , Adolescente , Adulto , Estudios de Casos y Controles , Humanos , Trastornos Mentales/terapia , Estudios Prospectivos , Proyectos de Investigación , Revisiones Sistemáticas como Asunto
15.
Front Psychiatry ; 12: 730921, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-35095586

RESUMEN

BACKGROUND: Externalising behaviours are becoming a remarkably prevalent problem during adolescence, often precipitating both externalising and internalising disorders in later adulthood. Psychological treatments aim to increase the social functioning of adolescents in order for them to live a more balanced life and prevent these negative trajectories. However, little is known of the intervening variables and mediators involved in these treatments' change mechanisms. We conducted a systematic review, exploring the available evidence on mediators of psychological treatments for externalising behaviours and symptoms amongst adolescents (10 to 19 years old). METHODS: A systematic search was performed on Medline and PsycINFO databases, which identified studies from inception to February 23, 2020. Eligible studies included randomised controlled trials that enrolled adolescents with externalising symptoms and behaviours as, at least, one of the primary outcomes. A group of 20 reviewers from the COST-Action TREATme (CA16102) were divided into 10 pairs. Each pair independently screened studies for inclusion, extracted information from the included studies, and assessed the methodological quality of the included studies and the requirements for mediators, following Kazdin's criteria. Risk of bias of RCTs was assessed by the Mixed Methods Appraisal Tool. Extracted data from the included studies were reported using a narrative synthesis. RESULTS: Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines (PRISMA), after removing duplicates, 3,660 articles were screened. Disagreements were resolved by consensus. In a second stage, 965 full-text articles were assessed for eligibility. A total of 14 studies fulfilled all inclusion criteria. The majority were related to systemic psychological treatment approaches. Two types of mediators were identified as potentially being involved in the mechanisms of change for better social improvements of adolescents: to increase healthier parent-adolescent relationships and parental discipline. However, there were significant and non-significant results amongst the same mediators, which led to discussing the results tentatively. CONCLUSIONS: Family variables were found to be the largest group of investigated mediators, followed by relational, behavioural, and emotional variables. No cognitive or treatment-specific mediators were identified. Both adequate behavioural control of adolescents' peer behaviour and a better positive balance in their relationships with their parents seemed to buffer the effects of externalising behaviours in adolescents. Several methodological limitations concerning mediation testing design, outcome measures, and mediator selection have been identified. ETHICS AND DISSEMINATION: Ethical approval was not required. PROSPERO registration number: CRD42021231835.

16.
Artículo en Inglés | LILACS | ID: biblio-1248353

RESUMEN

AIMS: The aims of this study were to characterize the etiological investigation of genetic cause in the autism spectrum disorder and to determine the factors related to its identification. METHODS: A retrospective descriptive study, with an analytical component, included children and adolescents with autism spectrum disorder followed in consultation at a level 2 hospital, between November 2017 and October 2019. The following variables were analyzed: age, sex, age at the first consultation, family history, objective examination, cognitive assessment, etiological investigation of genetic cause and etiological diagnosis of genetic cause. Statistical analysis was performed using the SPSS®v23 program (significance level 0.05). RESULTS: We identified 153 children with autism spectrum disorder, of which 48 underwent a genetic cause investigation: 45 performed microarray analysis (15.6% pathogenic); 42 carried out a molecular study of the Fragile X syndrome (one altered); two performed sequencing of the methyl CpG binding protein 2 (MECP2) gene (one altered). The diagnosis of genetic cause was made in 18.8% of the sample. The identification of the etiology of a genetic cause was related to global development delay/ intellectual disability (p = 0.04) and the presence of relevant family history (p = 0.005). CONCLUSIONS: The diagnostic yield of the genetic study was higher in patients with a global development delay /intellectual disability and in patients with relevant family history.


OBJETIVOS: Os objetivos deste estudo foram caracterizar a investigação etiológica de causa genética na perturbação do espetro do autismo e determinar os fatores que se relacionam com a sua identificação. MÉTODOS: Um estudo retrospetivo descritivo, com componente analítica, incluiu crianças e adolescentes com perturbação do espetro de autismo seguidos em consulta num hospital nível 2 entre novembro de 2017 e outubro de 2019. As seguintes variáveis foram analisadas: idade, sexo, idade na primeira consulta, antecedentes familiares, exame objetivo, avaliação cognitiva, investigação etiológica de causa genética e diagnóstico etiológico de causa genética. A análise estatística foi realizada utilizando o programa SPSS®v23 (nível de significância 0,05). RESULTADOS: Identificámos 153 crianças com perturbação do espetro de autismo, das quais 48 realizaram investigação etiológica de causa genética: 45 realizaram microarray (alterações patogénicas 15,6%); 42 realizaram estudo molecular da síndrome X-Frágil (um alterado); dois realizaram sequenciação do gene MECP2 (um alterado). O diagnóstico de causa genética foi feito em 18,8% da amostra. A identificação de etiologia de causa genética relacionou-se com défice intelectual/atraso global do desenvolvimento psicomotor (p=0,04) e com a presença de antecedentes familiares relevantes (p=0,005). CONCLUSÕES: A rentabilidade diagnóstica do estudo genético foi superior em doentes com atraso global do desenvolvimento psicomotor/défice intelectual associado e com antecedentes familiares relevantes.


Asunto(s)
Humanos , Niño , Adolescente , Trastorno del Espectro Autista , Trastorno Autístico/etnología
17.
Front Psychol ; 11: 2036, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32982848

RESUMEN

The suicide of a patient can be a disturbing experience for health professionals. According to literature, a patient suicide is a professional hazard in the path of prehospital emergency professionals. In the emergency context, several factors pointed out in literature as predictors of increased emotional impact and more severe traumatic reactions are present. However, the impact of patient suicide on prehospital emergency professionals is still an understudied subject. The aim of this study was to better understand the impact and emotional reactions of prehospital emergency professionals facing a patient suicide, using a qualitative approach. Semi-structured interviews were conducted with 19 prehospital professionals. Fourteen narratives about a patient suicide experience were obtained. Three main categories emerged from the process of content analyses: (1) emotional impact and related factors; (2) perceptions of impact; (3) emergency context and professional growing. Death by suicide in the prehospital emergency context had a considerable emotional impact on these professionals. Several participants described intrusive thoughts and images as a consequence of attending to the death scene. Regarding the perception of impact, there seemed to exist a variation between the levels of exposed to and affected by suicide. There are specific features of the prehospital emergency context that emerged in the narratives of participants as factors which increased the patient suicide impact, namely attending the death scene, encountering the family or other survivors, and managing the feeling of responsibility for not arriving in time of the rescue. The narratives of prehospital professionals also indicated some negative effects on their professional practice, such as doubts about their competence, training, and limits to liability. The death of a patient by suicide in the prehospital emergency context can be a difficult experience, marked with an intense emotional impact. Nevertheless, it can have some positive effects, such as professional growth and increased awareness for the phenomenon. Specific training appears to be fundamental to promote professional growth and to overcome the negative emotional impact.

18.
Rev Paul Pediatr ; 38: e2018294, 2020.
Artículo en Inglés, Portugués | MEDLINE | ID: mdl-32074227

RESUMEN

OBJECTIVE: To present a case of bilateral gynecomastia in a prepubertal boy with autism spectrum disorder, diagnosed with myotonic dystrophy type 1. CASE DESCRIPTION: A 12-year-old boy with autism spectrum disorder presented at a follow-up visit with bilateral breast growth. There was a family history of gynecomastia, cataracts at a young age, puberty delay, and myotonic dystrophy type 1. The physical examination showed that he had bilateral gynecomastia with external genitalia Tanner stage 1. Neurologic examination was regular, without demonstrable myotonia. The analytical study revealed increased estradiol levels and estradiol/testosterone ratio. After excluding endocrine diseases, the molecular study of the dystrophia myotonica protein kinase gene confirmed the diagnosis of myotonic dystrophy type 1. COMMENTS: A diagnosis of prepubertal gynecomastia should include an investigation for possible underlying diseases. This case report highlights the importance of considering the diagnosis of myotonic dystrophy type 1 in the presence of endocrine and neurodevelopmental manifestations.


Asunto(s)
Ginecomastia/etiología , Distrofia Miotónica/complicaciones , Trastorno del Espectro Autista/complicaciones , Niño , Estradiol/sangre , Genitales Masculinos/anatomía & histología , Ginecomastia/sangre , Humanos , Masculino , Distrofia Miotónica/sangre , Distrofia Miotónica/diagnóstico , Distrofia Miotónica/genética , Proteína Quinasa de Distrofia Miotónica/genética , Linaje , Pubertad , Testosterona/sangre
19.
Artículo en Inglés | LILACS | ID: biblio-1092122

RESUMEN

ABSTRACT Objective: To present a case of bilateral gynecomastia in a prepubertal boy with autism spectrum disorder, diagnosed with myotonic dystrophy type 1. Case description: A 12-year-old boy with autism spectrum disorder presented at a follow-up visit with bilateral breast growth. There was a family history of gynecomastia, cataracts at a young age, puberty delay, and myotonic dystrophy type 1. The physical examination showed that he had bilateral gynecomastia with external genitalia Tanner stage 1. Neurologic examination was regular, without demonstrable myotonia. The analytical study revealed increased estradiol levels and estradiol/testosterone ratio. After excluding endocrine diseases, the molecular study of the dystrophia myotonica protein kinase gene confirmed the diagnosis of myotonic dystrophy type 1. Comments: A diagnosis of prepubertal gynecomastia should include an investigation for possible underlying diseases. This case report highlights the importance of considering the diagnosis of myotonic dystrophy type 1 in the presence of endocrine and neurodevelopmental manifestations.


RESUMO Objetivo: Apresentar o caso de um adolescente pré-púbere com ginecomastia bilateral e transtorno do espectro autista, diagnosticado com distrofia miotônica tipo 1. Descrição do caso: Adolescente do sexo masculino de 12 anos, com transtorno do espectro autista, observado em consulta de seguimento por crescimento mamário bilateral. O paciente tinha antecedentes familiares de ginecomastia, catarata em idade jovem, atraso pubertário e distrofia miotônica tipo 1. À observação física, apresentava ginecomastia bilateral estádio 1 de Tanner. O exame neurológico era normal, sem miotonia aparente. O estudo analítico mostrou níveis elevados de estradiol e da relação estradiol/testosterona. Após exclusão de causas endócrinas, o estudo molecular do gene DMPK confirmou o diagnóstico de distrofia miotônica tipo 1. Comentários: Perante um quadro de ginecomastia pré-púbere, deve-se excluir doenças subjacentes. Este caso reforça a importância de considerar o diagnóstico de distrofia miotônica tipo 1 na presença de manifestações endócrinas e do neurodesenvolvimento.


Asunto(s)
Humanos , Masculino , Niño , Ginecomastia/etiología , Distrofia Miotónica/complicaciones , Linaje , Testosterona/sangre , Pubertad , Estradiol/química , Proteína Quinasa de Distrofia Miotónica/genética , Trastorno del Espectro Autista , Genitales Masculinos/anatomía & histología , Ginecomastia/sangre , Distrofia Miotónica/diagnóstico , Distrofia Miotónica/genética , Distrofia Miotónica/sangre
20.
Artículo en Inglés | MEDLINE | ID: mdl-29890677

RESUMEN

Clinical work with suicidal people is a demanding area. Little is known about health professionals’ practices when faced with suicidal patients. The aims of this study were to: (1) describe the practices most likely to be adopted by professionals facing a suicidal patient and (2) analyze the differences according to professional characteristics (group, specific training on suicide, and experience with suicidal patients). A self-report questionnaire that was developed for this study was filled out by 239 participants. Participants were psychologists, psychiatrists, and general practitioners who work in different contexts: hospitals, public health centres, schools or colleges, and community centres. Principal components analysis, analyses of variance, and t-tests were used. Four components were identified: (1) Comprehensive risk assessment; (2) protocols, psychotherapy and connectedness; (3) multidisciplinary clinical approach; and, (4) family, explaining a total of variance of 44%. Positive associations between suicide-related variables (training and experience) and practices were found. In general, health professionals’ practices are evidence-based, however a relevant percentage of professionals can benefit from training and improve their practices.


Asunto(s)
Pautas de la Práctica en Medicina/estadística & datos numéricos , Ideación Suicida , Femenino , Médicos Generales/educación , Humanos , Masculino , Portugal , Utilización de Procedimientos y Técnicas/estadística & datos numéricos , Psiquiatría/educación , Psicología/educación , Psicoterapia/educación , Psicoterapia/métodos , Medición de Riesgo , Autoinforme
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