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Abstract Therapeutic Alliance (TA) has been consistently reported as a robust predictor of therapy outcomes and is one of the most investigated therapy relational factors. Research on therapists' and clients’ contributions to the alliance development and the alliance-outcome relationship had shown mixed results. The relation of the therapist’s and client’s biological markers with the alliance is an important and under-investigated topic. Taking advantage of data mining techniques, this exploratory study aimed to investigate the role of different therapist and client factors, including heart rate (HR) and electrodermal activity (EDA), in relation to TA. Twenty-two dyads with 6 therapists and 22 clients participated in the study. The Working Alliance Inventory (WAI) was used to evaluate the client’s and therapist's perception of the alliance at the end of each session and through the therapy processes. The Cross-Industry Standard Process for Data Mining (CRISP-DM) was used to explore patterns that may contribute to TA. Machine Learning (ML) models have been employed to provide insights into the predictors and correlates of TA. Our results showed that Linear Regression (LR) was the best technique for predicting the therapist’s TA, with client “Diagnostic” and therapy “Termination” being identified as significant predictors of the therapist’s TA. In addition, for clients’ TA, the Random Forest (RF) was shown to have the best performance. The therapist’s TA and therapy “Outcome” were observed as the most influential predictors for the client’s TA. In addition, while the Heart Rate (therapist) was negatively associated with the therapist’s TA, EDA in the client was a physiological indicator related to the client’s TA. Overall, these findings can assist in identifying key factors that therapists should focus on to enhance the quality of therapeutic alliance. Results are discussed in terms of their consistency with empirical literature, innovative and interdisciplinary research on the therapeutic alliance field, and, in particular, the use of the Data Mining approach in a psychotherapy context.

The mapping of therapeutic collaboration throughout counseling deepens our understanding of how the helping relationship fosters client change. To better understand the process of career construction counseling (CCC), we analyzed the therapeutic collaboration on six successful face-to-face cases. The participants were six Portuguese adults, five women and one man, real clients of a career counseling service, and four psychologists, three female and one male trained in the career intervention model. The participants completed demographic questions and measures of career certainty, vocational identity, career indecision, and psychological functioning. The Therapeutic Collaboration Coding System was used to track collaboration throughout all interactive episodes. The clinical significance of the intervention was calculated by analyzing pre-post-test statistical differences for each case, with the Reliable Change Index and Z score. The findings evidenced a pattern of therapeutic collaboration evolution for good outcome cases. Based on this pattern, we propose a model of process-outcome evolution for the three phases of CCC.

Driven by the theory-building around the role of the non-verbal components to communication, we aimed to understand how therapists experience the therapeutic process using a facial mask. The empirical evidence of the power of non-verbal communication to engage therapists and clients in therapeutic work, develop a positive and collaborative relationship between them, and display empathy is quite large. A mixed-methods approach was adopted, drawing from the therapists’ participation in an online survey. A sample of 137 psychotherapists with different therapy orientations and years of clinical practice participated in the study. Therapists conducted face-to-face therapy wearing face masks with existing and/or new clients. We performed an exploratory analysis, using descriptive statistics, to explore the psychotherapists’ evaluations regarding perceived impact of face masks on different therapy quality dimensions. In a complementary rationale, we analyzed the therapists’ perspectives on their experience wearing face masks using the thematic analysis methodology. Results show that among 137 psychotherapists, 114 were attending both existing and new clients, whereas only 13 were seeing exclusively existing clients and 10 were working exclusively with new clients. Despite no major differences were found between conditions regarding the perceived impact of face masks on different therapy quality dimensions and strategies adopted, the qualitative analysis allowed us to expand the quantitative results and deepen understanding of psychotherapists’ experience. Based on general and typical patterns, we propose two distinct models to describe the therapist’s experiences narrative when working with existing or new clients wearing face masks. Based on the results, we propose some recommendations to clinical practice in similar conditions.

This study examined the therapeutic collaboration in a case of Life Design Counseling (LDC) with narrative change and positive career outcomes. The therapeutic collaboration-change model and correspondent coding system were used to in-tensively study the helping relationship throughout three sessions of LDC. The collaboration coding system enables the assessment of each therapeutic exchange within and outside of the client’s therapeutic zone of proximal development, defined as the space between the client’s actual therapeutic developmental level and his/her potential developmental level fomented by a collaborative relationship. Results show that in all sessions, counsellor and client worked mainly within the therapeutic proximal development zone, that is, they were able to interact collaboratively. The coding of the counsellor’s interventions throughout the counselling process was in accordance with the life-design framework. The collaboration-change model and coding system contributed to understand the process of change in LDC.

We aim to analyze the reliability of the Portuguese version of the Classification System for Personal Constructs - CSPC (Feixas, Geldschläger & Neimeyer, 2002). That is a system of 53 content categories divided into six basic areas (moral, emotional, relational, personal, intellectual/operational, and values/interests) and two supplemental areas (existential and concrete descriptors). In this study, we adapt to Portuguese language the CSPC, using a sample of 448 constructs extracted from 32 repertory grids, and we analyze the reliability of this classification system. The degree of agreement achieved was excellent. Our findings are similar to those found by the versions of the CSPC in other languages, which demonstrates the reliability of the Portuguese version of the CSPC.

Apresenta-se um estudo que tem como objectivo avaliar as mudanças no self de carreira de estudantes universitários do início para o final do último ano de graduação. Para tal recorreu-se a um estudo de medidas repetidas dos índices de uma Grelha de Repertório da Carreira (GRC), desenvolvido para este propósito. Esta grelha avalia a relação estabelecida pelos estudantes entre construtos vocacionais, aspectos do self e figuras determinantes da construção da sua identidade. Do estudo participaram 80 estudantes de graduação da Universidade do Minho, no noroeste de Portugal, inscritos pela primeira vez no último ano do curso de licenciatura, dos quais 49 são mulheres (61,25%) e 31 são homens (38,75%), com idades compreendidas entre os 21 e os 45 anos (M=23,9, DP=4,31). Os resultados evidenciam variações intraindividuais, na flexibilidade cognitiva e definição do self de carreira, inferiores no segundo momento de avaliação.

Segundo a terapia narrativa de White, a mudança ocorre a partir da identificação e expansão dos resultados únicos, entendidos como excepções à narrativa problemática. O Sistema de Codificação de Momentos de Inovação (SCMI) foi desenvolvido para identificar estas novidades narrativas – que denominamos momentos de inovação (MIs) – nas sessões de psicoterapia. Este sistema permite identificar 5 tipos de MIs: acção, reflexão, protesto, reconceptualização e desempenho da mudança. Pretendemos compreender como é que os diferentes tipos de MIs emergem ao longo do processo terapêutico. Deste modo, apresentamos a análise do processo de mudança de um caso de sucesso de terapia construtivista, a partir do SCMI. A reconceptualização emerge na fase intermédia do processo e evolui progressivamente até ao final. A reflexão está presente ao longo do processo, sendo bastante elevada nas sessões iniciais e intermédias e decrescendo nas sessões finais. Os MIs de desempenho da mudança, acção e protesto estão quase ausentes.

O self de carreira constituí um subconjunto organizado do universo cognitivo de uma pessoa, responsável pelo carácter subjetivo que a mesma confere à carreira. Este estudo pretende avaliar mudanças no conteúdo do self de carreira de estudantes universitários, do início para o final do último ano de graduação. Para tal, recorreu-se a medidas repetidas dos índices da Grelha de Repertório da Carreira (Silva & Taveira, 2005; Silva, 2008). Na investigação, participaram 80 estudantes, dos quais 49 são mulheres (61,25%) e 31 são homens (38,75%), com idades entre os 21 e os 45 anos (M= 23,9, DP= 4,31). Os resultados indicam que, no final da licenciatura, os estudantes diminuem a distância como se constrõem em relação aos outros e mantêm uma construção positiva do self de carreira.

ABSTRACT Background: The diagnosis of autism spectrum disorder (ASD) in Down syndrome (DS) is underestimated because it is necessary to understand which aspects of the behavioral phenotype are related to DS and which are related to ASD. Objective: To conduct a systematic review of the literature on early identification and diagnosis of ASD in patients with DS. Data source: The VHL, MEDLINE, Cochrane, CINAHL, Scopus, Web of Science and Embase databases were searched and data were evaluated using PRISMA. Data synthesis: Out of 1,729 articles evaluated, 15 were selected. Although well studied, identification of ASD in DS can be difficult because of the need to understand which aspects of the behavioral phenotype are related to Down syndrome and which to autism. In this review, the prevalence of ASD was found to range from 12% to 41%. Early identification of autism risk in individuals with Down syndrome is still poorly studied, even though there are screening instruments for infants. Several instruments for diagnosing autism in individuals with Down syndrome were found, but a developmental approach is fundamental for making a clear diagnosis. Conclusions: Screening procedures are important for detecting early signs of autism risk in the first year of life. Careful evaluation methods are needed to establish the diagnosis, which include choosing appropriate tools for evaluation of development and cognition, and analysis of qualitative aspects of social interaction, among others. It has been indicated in the literature that early detection and timely accurate diagnosis, in association with an intervention, may benefit development, quality of life and social inclusion.

O presente artigo trata sobre o problema da existência dos dilemas morais, propondo uma solução plausível para esse problema. Tradicionalmente, a suposição de que esses dilemas existem sugere um tipo de inconsistência. Devido a essa inconsistência, ou a existência desses dilemas ou os princípios deônticos dos quais a contradição é derivada devem ser negados. Diante disso, dada à relevância dos princípios deônticos e frente às evidências contundentes da existência dos dilemas morais, argumentamos em favor da não rejeição de nenhuma das duas possibilidades; defendemos que é possível a permanência dos princípios concomitantemente com a existência dos dilemas, partindo do pressuposto de que existem contradições verdadeiras ou dialetéias, juntamente com a sugestão da mudança do paradigma lógico através do qual os dilemas são tratados.

Abstract Background Hepatic glycogen storage diseases (GSDs) are a group of rare genetic disorders in which glycogen cannot be metabolized to glucose in the liver because of enzyme deficiencies along the glycogenolytic pathway. GSDs are well‐recognized diseases that can occur without the full spectrum, and with overlapping in symptoms. Methods We analyzed a cohort of 125 patients with suspected hepatic GSD through a next‐generation sequencing (NGS) gene panel in Ion Torrent platform. New variants were analyzed by pathogenicity prediction tools. Results Twenty‐seven new variants predicted as pathogenic were found between 63 variants identified. The most frequent GSD was type Ia (n = 53), followed by Ib (n = 23). The most frequent variants were p.Arg83Cys (39 alleles) and p.Gln347* (14 alleles) in G6PC gene, and p.Leu348Valfs (21 alleles) in SLC37A4 gene. Conclusions The study presents the largest cohort ever analyzed in Brazilian patients with hepatic glycogenosis. We determined the clinical utility of NGS for diagnosis. The molecular diagnosis of hepatic GSDs enables the characterization of diseases with similar clinical symptoms, avoiding hepatic biopsy and having faster results.

No cotidiano, muitas vezes nos encontramos diante de situações moralmente conflitantes que requerem decisões. Em certas ocasiões, dependendo do tipo de conflito em que o agente moral se encontra, tais decisões não são triviais. Situações em que uma pessoa tem a exigência moral de efetivar duas ações, mas não pode efetivar ambas porque efetivar uma impede de efetivar a outra, caracterizam o que chamamos de dilemas morais. Esse tipo de circunstância pode sugerir um tipo de inconsistência que, de acordo com alguns, leva à negação da existência desses conflitos ou leva à negação de alguns princípios deônticos consagrados. No cerne dessa querela está a construção de argumentos baseados na inconsistência lógica visando à demonstração de que dilemas morais não existem. Nesse sentido, esse trabalho tem como objetivo expor alguns argumentos contra a existência dos dilemas morais baseados na inconsistência lógica, bem como uma análise dos princípios deônticos usados para gerar essa inconsistência. Feito isso, procuraremos responder a questão se a inconsistência lógica realmente implica na não existência desses dilemas.

Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH. The present text suggests guidelines for the clinical management of NF, with emphasis on NF1.

Neurofibromatoses (NF) are a group of genetic multiple tumor growing predisposition diseases: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), which have in common the neural origin of tumors and cutaneous signs. They affect nearly 80 thousand of Brazilians. In recent years, the increased scientific knowledge on NF has allowed better clinical management and reduced complication morbidity, resulting in higher quality of life for NF patients. In most cases, neurology, psychiatry, dermatology, clinical geneticists, oncology and internal medicine specialists are able to make the differential diagnosis between NF and other diseases and to identify major NF complications. Nevertheless, due to its great variability in phenotype expression, progressive course, multiple organs involvement and unpredictable natural evolution, NF often requires the support of neurofibromatoses specialists for proper treatment and genetic counseling. This Part 1 offers step-by-step guidelines for NF differential diagnosis. Part 2 will present the NF clinical management.

Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alph-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label, non-randomized, multicenter cohort study of patients with MPS I. Data were collected from questionnaires completed by attending physicians at the time of diagnosis (T1; n = 34) and at a median time of 2.5 years later (T2; n = 24/34). The 24 patients for whom data were available at T2 were allocated into groups: A, no ERT (9 patients; median age at T1 = 36 months; 6 with severe phenotype); B, on ERT (15 patients; median age at T1 = 33 months; 4 with severe phenotype). For all variables in which there was no between-group difference at baseline, a delta of ;±20% was considered clinically relevant. The following clinically relevant differences were identified in group B in T2: lower rates of mortality and reported hospitalization for respiratory infection; lower frequency of hepatosplenomegaly; increased reported rates of obstructive sleep apnea syndrome and hearing loss; and stabilization of gibbus deformity. These changes could be due to the effect of ERT or of other therapies which have also been found more frequently in group B. Our findings suggest MPS I patients on ERT also receive a better overall care. ERT may have a positive effect on respiratory morbidity and overall mortality in patients with MPS I. Additional studies focusing on these outcomes and on other therapies should be performed.

O retardo mental é uma condição presente em 2% a 3% da população e mais da metade dos casos ainda são considerados idiopáticos. Sua etiologia é heterogênea e as anomalias cromossômicas têm importante contribuição. A aplicação de técnicas de citogenética clássica e de citogenética molecular tem permitido o diagnóstico preciso em muitos casos, proporcionando melhor acompanhamento clínico e aconselhamento genético. Este trabalho tem como objetivo informar sobre os principais exames atualmente disponíveis para a investigação de rearranjos cromossômicos em pacientes com retardo mental idiopático, incluindo cariótipo com bandeamento G, hibridação in situ fluorescente (FISH), cariotipagem espectral (SKY), amplificação de múltiplas sondas dependente de ligação (MLPA) e hibridação genômica comparativa em array (array-CGH).Mental retardation is a condition that affects 2%-3% of the population and more than half of the cases are still deemed idiopathic. Its etiology is heterogeneous and chromosome abnormalities play a significant role. The application of classical cytogenetic and molecular cytogenetic techniques has enabled accurate diagnosis in several cases, which allows better clinical monitoring and genetic counseling. This paper aims at informing about the major tests currently available to investigate chromosome abnormalities in patients with idiopathic mental retardation, including GTG-banded karyotyping, fluorescence in situ hybridization (FISH), spectral karyotyping (SKY), multiplex ligation-dependent probe amplification (MLPA) and array-comparative genomic hybridization (array-CGH).

OBJECTIVE: Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the most common group of neurodegenerative disorders of childhood. We report the clinical data and molecular analysis of a large Brazilian family. METHOD: Family composed of two consanguineous couples and thirty-two children. Clinical data of ten JNCL patients and molecular analyses on 13 participants were obtained. RESULTS: The large 1.02 kb deletion was detected. The most severe phenotype, with autistic behavior, tics and parkinsonism was seen in a 12-year-old female and a milder phenotype in a 14-year-old male. Nyctalopia was the first symptom in one deceased child. The visual loss of six patients has been first observed in the school and not at home. CONCLUSION: The report highlights the phenotypical intrafamily variation in 10 affected children of this family. The molecular investigation of this large family in our metabolic center turned possible the diagnosis, right approach and genetic counseling.