RESUMO
BACKGROUND: A sizeable proportion of pathogenic genetic variants identified in young children tested for congenital differences are associated with neurodevelopmental psychiatric disorders (NPD). In this growing group, a genetic diagnosis often precedes the emergence of diagnosable developmental concerns. Here, we describe DAGSY (Developmental Assessment of Genetically Susceptible Youth), a novel interdisciplinary 'genetic-diagnosis-first' clinic integrating psychiatric, psychological and genetic expertise, and report our first observations and feedback from families and referring clinicians. METHODS: We retrieved data on referral sources and indications, genetic and NPD diagnoses and recommendations for children seen at DAGSY between 2018 and 2022. Through a survey, we obtained feedback from twenty families and eleven referring clinicians. RESULTS: 159 children (mean age 10.2 years, 57.2% males) completed an interdisciplinary (psychiatry, psychology, genetic counselling) DAGSY assessment during this period. Of these, 69.8% had a pathogenic microdeletion or microduplication, 21.5% a sequence-level variant, 4.4% a chromosomal disorder, and 4.4% a variant of unknown significance with emerging evidence of pathogenicity. One in four children did not have a prior NPD diagnosis, and referral to DAGSY was motivated by their genetic vulnerability alone. Following assessment, 76.7% received at least one new NPD diagnosis, most frequently intellectual disability (24.5%), anxiety (20.7%), autism spectrum (18.9%) and specific learning (16.4%) disorder. Both families and clinicians responding to our survey expressed satisfaction, but also highlighted some areas for potential improvement. CONCLUSIONS: DAGSY addresses an unmet clinical need for children identified with genetic variants that confer increased vulnerability for NPD and provides a crucial platform for research in this area. DAGSY can serve as a model for interdisciplinary clinics integrating child psychiatry, psychology and genetics, addressing both clinical and research needs for this emerging population.
Assuntos
Transtornos Mentais , Transtornos do Neurodesenvolvimento , Humanos , Criança , Transtornos do Neurodesenvolvimento/genética , Feminino , Masculino , Transtornos Mentais/genética , Predisposição Genética para Doença , AdolescenteRESUMO
Este artigo tem como objetivo analisar os desdobramentos da perspectiva biomédica em atendimentos psicológicos em um serviço interdisciplinar de transtornos alimentares. A metodologia consistiu em uma pesquisa documental de prontuários dos pacientes atendidos no programa diagnosticados com transtorno alimentar e que estavam em atendimento no período de agosto de 2012 a janeiro de 2013. As categorias clínicas privilegiadas nesta análise foram transferência, sintomas e diagnóstico. Ao todo foram 17 prontuários, todos de pacientes do sexo feminino, com idades entre 14 e 61 anos. Identificamos além da prevalência do discurso biomédico nos relatos de sessões, questões subjetivas presentes no discurso do paciente, mas pouco elaboradas nos prontuários, como as relações familiares, questões da oralidade, puberdade e da feminilidade. A partir da teoria psicanalítica de Freud e Lacan, discutimos tais questões, ressaltando a importância para a compreensão e acompanhamento de pacientes com transtornos alimentares...
This article aims to analyze the ramifications of the biomedical perspective in psychological services on an interdisciplinary service of nutritious disorders. The methodology consists of a documental research of medical registers of patients attended on the program who were diagnosed with nutritious disorder and that were being attended on the period between August 2012 and January 2013. The clinical categories privileged on this analysis were transference, symptoms and diagnosis. There was a total of 17 medical registers, all of female gender, aging between 14 and 61 years. Besides the prevalence of the biomedical discourse on the sessions report we identified subjective questions present on the patients discourse, but they were not extensively elaborated, such as familiar relationships, orality questions, puberty and femininity. From the psychoanalytical theory of Freud and Lacan, we discuss the mentioned questions, pointing out the importance to the comprehension and following of patients with nutritious disorders...
Cet article a pour but analyser le développement de la perspective biomédicale dans l'assistance psychologique sur un service interdisciplinaire de troubles alimentaires. La méthodologie repose sur une enquête documentaire de dossiers des patients traités dans le programme et diagnostiqués avec trouble alimentaire, ils ont été traités pendant la période d'Août 2012 à Janvier 2013. Les catégories cliniques envisagées dans cette analyse sont transfert, symptômes et diagnostic. En tout, ce sont 17 dossiers de patients, tous du sexe féminin, de 14 à 61 ans. Nous avons identifié au-delà de la prévalence du discours biomédical dans les comptes rendus des sessions, questions subjectives présentes dans le discours du patient, mais peu élaborées dans les dossiers, telles que les relations familiales, les questions de l'oralité, puberté et de la féminité. À partir de la théorie de Freud et Lacan, nous avons discuté ces questions, en soulignant l'importance pour la compréhension et le suivi des patients avec troubles alimentaires...
Este artículo tiene como objetivo analizar los desdoblamientos de la perspectiva biomédica en atendimientos psicológicos en un servicio interdisciplinar de transtornos orales. La metodología consistió in una investigación documental de prontuarios de los pacientes atendidos en el programa diagnosticados con transtorno alimentar y que estaban en atendimiento en el período de Agosto de 2012 a Enero de 2013. Las categorías clínicas privilegiadas en este análisis fueran transferencia, síntomas y diagnostico. Al todo fueran 17 prontuarios, todos de pacientes del sexo femenino, con edades entre 14 y 61 años. Identificamos allá de la prevalencia del discurso biomédico en los relatos de sesiones, cuestiones subjetivas presentes en el discurso del paciente, más poco elaboradas en los prontuatrios, como las relaciones familiares, cuestiones de la oralidad, pubertad y da feminidad. Partiendo de la teoría psicoanalítica de Freud y Lacan, discutimos tales cuestiones, resaltando la importancia para la comprensión y acompañamiento de pacientes con transtornos alimentares...
Assuntos
Humanos , Medicina do Comportamento , Transtornos da Alimentação e da Ingestão de Alimentos , Psicologia AplicadaRESUMO
Este artigo tem como objetivo analisar os desdobramentos da perspectiva biomédica em atendimentos psicológicos em um serviço interdisciplinar de transtornos alimentares. A metodologia consistiu em uma pesquisa documental de prontuários dos pacientes atendidos no programa diagnosticados com transtorno alimentar e que estavam em atendimento no período de agosto de 2012 a janeiro de 2013. As categorias clínicas privilegiadas nesta análise foram transferência, sintomas e diagnóstico. Ao todo foram 17 prontuários, todos de pacientes do sexo feminino, com idades entre 14 e 61 anos. Identificamos além da prevalência do discurso biomédico nos relatos de sessões, questões subjetivas presentes no discurso do paciente, mas pouco elaboradas nos prontuários, como as relações familiares, questões da oralidade, puberdade e da feminilidade. A partir da teoria psicanalítica de Freud e Lacan, discutimos tais questões, ressaltando a importância para a compreensão e acompanhamento de pacientes com transtornos alimentares.(AU)
This article aims to analyze the ramifications of the biomedical perspective in psychological services on an interdisciplinary service of nutritious disorders. The methodology consists of a documental research of medical registers of patients attended on the program who were diagnosed with nutritious disorder and that were being attended on the period between August 2012 and January 2013. The clinical categories privileged on this analysis were transference, symptoms and diagnosis. There was a total of 17 medical registers, all of female gender, aging between 14 and 61 years. Besides the prevalence of the biomedical discourse on the sessions report we identified subjective questions present on the patients discourse, but they were not extensively elaborated, such as familiar relationships, orality questions, puberty and femininity. From the psychoanalytical theory of Freud and Lacan, we discuss the mentioned questions, pointing out the importance to the comprehension and following of patients with nutritious disorders.(AU)
Cet article a pour but analyser le développement de la perspective biomédicale dans l'assistance psychologique sur un service interdisciplinaire de troubles alimentaires. La méthodologie repose sur une enquête documentaire de dossiers des patients traités dans le programme et diagnostiqués avec trouble alimentaire, ils ont été traités pendant la période d'Août 2012 à Janvier 2013. Les catégories cliniques envisagées dans cette analyse sont transfert, symptômes et diagnostic. En tout, ce sont 17 dossiers de patients, tous du sexe féminin, de 14 à 61 ans. Nous avons identifié au-delà de la prévalence du discours biomédical dans les comptes rendus des sessions, questions subjectives présentes dans le discours du patient, mais peu élaborées dans les dossiers, telles que les relations familiales, les questions de l'oralité, puberté et de la féminité. À partir de la théorie de Freud et Lacan, nous avons discuté ces questions, en soulignant l'importance pour la compréhension et le suivi des patients avec troubles alimentaires.(AU)
Este artículo tiene como objetivo analizar los desdoblamientos de la perspectiva biomédica en atendimientos psicológicos en un servicio interdisciplinar de transtornos orales. La metodología consistió in una investigación documental de prontuarios de los pacientes atendidos en el programa diagnosticados con transtorno alimentar y que estaban en atendimiento en el período de Agosto de 2012 a Enero de 2013. Las categorías clínicas privilegiadas en este análisis fueran transferencia, síntomas y diagnostico. Al todo fueran 17 prontuarios, todos de pacientes del sexo femenino, con edades entre 14 y 61 años. Identificamos allá de la prevalencia del discurso biomédico en los relatos de sesiones, cuestiones subjetivas presentes en el discurso del paciente, más poco elaboradas en los prontuatrios, como las relaciones familiares, cuestiones de la oralidad, pubertad y da feminidad. Partiendo de la teoría psicoanalítica de Freud y Lacan, discutimos tales cuestiones, resaltando la importancia para la comprensión y acompañamiento de pacientes con transtornos alimentares.(AU)
