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1.
Cell ; 174(3): 505-520, 2018 07 26.
Artigo em Inglês | MEDLINE | ID: mdl-30053424

RESUMO

Although gene discovery in neuropsychiatric disorders, including autism spectrum disorder, intellectual disability, epilepsy, schizophrenia, and Tourette disorder, has accelerated, resulting in a large number of molecular clues, it has proven difficult to generate specific hypotheses without the corresponding datasets at the protein complex and functional pathway level. Here, we describe one path forward-an initiative aimed at mapping the physical and genetic interaction networks of these conditions and then using these maps to connect the genomic data to neurobiology and, ultimately, the clinic. These efforts will include a team of geneticists, structural biologists, neurobiologists, systems biologists, and clinicians, leveraging a wide array of experimental approaches and creating a collaborative infrastructure necessary for long-term investigation. This initiative will ultimately intersect with parallel studies that focus on other diseases, as there is a significant overlap with genes implicated in cancer, infectious disease, and congenital heart defects.


Assuntos
Mapeamento Cromossômico/métodos , Transtornos do Neurodesenvolvimento/genética , Biologia de Sistemas/métodos , Redes Reguladoras de Genes/genética , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla/métodos , Genômica/métodos , Humanos , Neurobiologia/métodos , Neuropsiquiatria
2.
Mol Psychiatry ; 28(1): 329-340, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36104436

RESUMO

Depressive disorders are the most burdensome psychiatric disorders worldwide. Although huge efforts have been made to advance treatment, outcomes remain unsatisfactory. Many factors contribute to this gridlock including suboptimal animal models. Especially limited study comparability and replicability due to imprecise terminology concerning depressive-like states are major problems. To overcome these issues, new approaches are needed. Here, we introduce a taxonomical concept for modelling depression in laboratory mice, which we call depression-like syndrome (DLS). It hinges on growing evidence suggesting that mice possess advanced socioemotional abilities and can display non-random symptom patterns indicative of an evolutionary conserved disorder-like phenotype. The DLS approach uses a combined heuristic method based on clinical depression criteria and the Research Domain Criteria to provide a biobehavioural reference syndrome for preclinical rodent models of depression. The DLS criteria are based on available, species-specific evidence and are as follows: (I) minimum duration of phenotype, (II) significant sociofunctional impairment, (III) core biological features, (IV) necessary depressive-like symptoms. To assess DLS presence and severity, we have designed an algorithm to ensure statistical and biological relevance of findings. The algorithm uses a minimum combined threshold for statistical significance and effect size (p value ≤ 0.05 plus moderate effect size) for each DLS criterion. Taken together, the DLS is a novel, biologically founded, and species-specific minimum threshold approach. Its long-term objective is to gradually develop into an inter-model validation standard and microframework to improve phenotyping methodology in translational research.


Assuntos
Depressão , Pesquisa Translacional Biomédica , Animais , Humanos , Camundongos , Depressão/diagnóstico , Neuropsiquiatria , Modelos Animais de Doenças
3.
J Neuropsychiatry Clin Neurosci ; 36(1): 11-21, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37727060

RESUMO

In the early 20th century, neurology training included more experience in psychiatry, and psychiatry training included more training in neurology than what is currently required. After World War I, the increased need for differential diagnosis of what might now be called functional neurological disorders resulted in the military encouraging combined residency training in neurology and psychiatry and the promulgation of the term "neuropsychiatry" for this specialty. Thirty-six percent of physicians certified by the American Board of Psychiatry and Neurology in its first decade (1935-1945) held certification in both neurology and psychiatry. However, the term neuropsychiatry gradually became used interchangeably with general psychiatry-to distinguish it from psychoanalysis-and lost its specificity. It is widely held that the popularity of psychoanalysis resulted in psychiatrists perceiving less need for neurological knowledge, and inclusion of neurology content in psychiatry training decreased. Dual residency training programs in neurology and psychiatry began to increase in popularity again in the 1980s as advances in neuroscience, neuroimaging, and pharmacology, paired with the growth of behavioral neurology, laid the foundation for meaningful practice of neuropsychiatry. The author surveyed 207 physicians who graduated from both a neurology and psychiatry residency and 18 current trainees in combined neuropsychiatry residency programs to collect information on their current practice, academic activity, and opinions about their training. The response rate was 64%. Respondents' attitudes toward the value of their dual neurology and psychiatry training were overwhelmingly positive. Reasons for the lack of growth of combined residency programs in neurology and psychiatry are examined.


Assuntos
Internato e Residência , Neurologia , Neuropsiquiatria , Neurociências , Psiquiatria , Humanos , Estados Unidos , Neurologia/educação , Neurociências/educação
4.
Artigo em Inglês | MEDLINE | ID: mdl-37727059

RESUMO

Behavioral neurology & neuropsychiatry (BNNP) fellowships are accredited by the United Council for Neurologic Subspecialties (UCNS). Programs cover the UCNS-recommended topics differently. A curriculum accessible to all fellowships would standardize education and identify gaps in topics that are less well covered across programs. The purpose of the present needs assessment was to inform the development of the Online Core Curriculum and Mastery: BNNP (OCCAM-BNNP), a website for all UCNS-accredited BNNP programs. Program directors and fellows were surveyed to learn how well topics are covered and identify educational gaps, or specific topics on the UCNS website that are less well represented among programs. Thirty-seven fellowship program directors listed on the UCNS website were invited to take the survey and forward it to both current fellows (graduating in 2021) and recent graduates (graduated from 2015 to 2020). There were 29 responses from 37 programs. Of the 34 topics that respondents rated on a 1-5 Likert scale (from "not covered" to "completely covered"), 15 of 34 (44%) were identified as having >40% of responses as mostly "not covered," "incompletely covered," or "partially covered." Ninety-seven percent of respondents affirmed that it would be useful to have a free web-based resource for BNNP education. Slightly under one-half of all BNNP topics were not well covered. A survey was undertaken to identify and fill the educational gaps indicated by fellowship directors and fellows, and the OCCAM-BNNP website was developed as a repository for relevant content, providing a resource that many BNNP clinicians would find useful.


Assuntos
Neurologia , Neuropsiquiatria , Humanos , Estados Unidos , Avaliação das Necessidades , Currículo , Bolsas de Estudo , Neurologia/educação , Inquéritos e Questionários
5.
J Neuropsychiatry Clin Neurosci ; 36(2): 87-100, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38111331

RESUMO

Telehealth and telemedicine have encountered explosive growth since the beginning of the COVID-19 pandemic, resulting in increased access to care for patients located far from medical centers and clinics. Subspecialty clinicians in behavioral neurology & neuropsychiatry (BNNP) have implemented the use of telemedicine platforms to perform cognitive examinations that were previously office based. In this perspective article, BNNP clinicians at Massachusetts General Hospital (MGH) describe their experience performing cognitive examinations via telemedicine. The article reviews the goals, prerequisites, advantages, and potential limitations of performing a video- or telephone-based telemedicine cognitive examination. The article shares the approaches used by MGH BNNP clinicians to examine cognitive and behavioral areas, such as orientation, attention and executive functions, language, verbal learning and memory, visual learning and memory, visuospatial function, praxis, and abstract abilities, as well as to survey for neuropsychiatric symptoms and assess activities of daily living. Limitations of telemedicine-based cognitive examinations include limited access to and familiarity with telecommunication technologies on the patient side, limitations of the technology itself on the clinician side, and the limited psychometric validation of virtual assessments. Therefore, an in-person examination with a BNNP clinician or a formal in-person neuropsychological examination with a neuropsychologist may be recommended. Overall, this article emphasizes the use of standardized cognitive and behavioral assessment instruments that are either in the public domain or, if copyrighted, are nonproprietary and do not require a fee to be used by the practicing BNNP clinician.


Assuntos
COVID-19 , Neurologia , Neuropsiquiatria , Telemedicina , Humanos , Hospitais Gerais , Pandemias , Atividades Cotidianas , Massachusetts , Cognição
6.
Cogn Behav Neurol ; 37(2): 49-56, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38717325

RESUMO

Behavioral neurology & neuropsychiatry (BNNP) is a field that seeks to understand brain-behavior relationships, including fundamental brain organization principles and the many ways that brain structures and connectivity can be disrupted, leading to abnormalities of behavior, cognition, emotion, perception, and social cognition. In North America, BNNP has existed as an integrated subspecialty through the United Council for Neurologic Subspecialties since 2006. Nonetheless, the number of behavioral neurologists across academic medical centers and community settings is not keeping pace with increasing clinical and research demand. In this commentary, we provide a brief history of BNNP followed by an outline of the current challenges and opportunities for BNNP from the behavioral neurologist's perspective across clinical, research, and educational spheres. We provide a practical guide for promoting BNNP and addressing the shortage of behavioral neurologists to facilitate the continued growth and development of the subspecialty. We also urge a greater commitment to recruit trainees from diverse backgrounds so as to dismantle persistent obstacles that hinder inclusivity in BNNP-efforts that will further enhance the growth and impact of the subspecialty. With rapidly expanding diagnostic and therapeutic approaches across a range of conditions at the intersection of neurology and psychiatry, BNNP is well positioned to attract new trainees and expand its reach across clinical, research, and educational activities.


Assuntos
Neurologia , Humanos , Neurologia/tendências , Neuropsiquiatria/tendências
7.
Eur Child Adolesc Psychiatry ; 33(1): 139-149, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36695897

RESUMO

Recently, there has been an increase in telemedicine applied to child neuropsychiatry, such as the use of online platforms to collect remotely case histories and demographic and behavioral information. In the present proof-of-concept study, we aimed to understand to what extent information parents and teachers provide through online questionnaires overlaps with clinicians' diagnostic conclusions on attention-deficit/hyperactivity disorder (ADHD). Moreover, we intended to explore a possible role that autism spectrum disorders (ASD) symptoms played in this process. We examined parent- and teacher-rated questionnaires collected remotely and an on-site evaluation of intelligence quotients from 342 subjects (18% females), aged 3-16 years, and referred for suspected ADHD. An easily interpretable machine learning model-decision tree (DT)-was built to simulate the clinical process of classifying ADHD/non-ADHD based on collected data. Then, we tested the DT model's predictive accuracy through a cross-validation approach. The DT classifier's performance was compared with those that other machine learning models achieved, such as random forest and support vector machines. Differences in ASD symptoms in the DT-identified classes were tested to address their role in performing a diagnostic error using the DT model. The DT identified the decision rules clinicians adopt to classify an ADHD diagnosis with an 82% accuracy rate. Regarding the cross-validation experiment, our DT model reached a predictive accuracy of 74% that was similar to those of other classification algorithms. The caregiver-reported ADHD core symptom severity proved the most discriminative information for clinicians during the diagnostic decision process. However, ASD symptoms were a confounding factor when ADHD severity had to be established. Telehealth procedures proved effective in obtaining an automated output regarding a diagnostic risk, reducing the time delay between symptom detection and diagnosis. However, this should not be considered an alternative to on-site procedures but rather as automated support for clinical practice, enabling clinicians to allocate further resources to the most complex cases.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Transtorno Autístico , Neuropsiquiatria , Criança , Feminino , Humanos , Masculino , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Espectro Autista/diagnóstico , Aprendizado de Máquina Supervisionado , Pré-Escolar , Adolescente
8.
Behav Sci Law ; 42(1): 20-27, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38030957

RESUMO

Significant advances in various disciplines of neurosciences, such as neurology, neuropsychiatry, neuroimaging, and neurogenetics, have caused an exciting field to emerge in the field of forensic neuropsychiatry called neurolaw. The resurgence of interest in this field has paralleled the renaissance of neuropsychiatry in the last few decades. This historical review of the practice of forensic neuropsychiatry provides an insight into the past with the hope that it will guide the future development of this field.


Assuntos
Neurologia , Neuropsiquiatria , Neurociências , Humanos
9.
Behav Sci Law ; 42(1): 11-19, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37983666

RESUMO

As neuroscience technologies develop, ethical and legal questions arise regarding their use and societal impact. Neuroethics and neurolaw are growing interdisciplinary fields that address these questions. This review article presents the research agenda of both areas, examines the use and admissibility of neuroscience in expert testimony and legal settings, and discusses ethical issues related to forensic neuropsychiatrists claiming expertise in neuroscience, formulating medical opinions based on neuroscience, and considering its relevance to criminal responsibility. Forensic neuropsychiatrists should be aware of emerging neuroscientific evidence, its utility and limits in rendering diagnoses and explaining behavior, and, before seeking such evidence for legal purposes, its availability and admissibility. When testifying in matters involving neuroscientific evidence, ensuring truthfulness and balance, having sufficient and validated knowledge (including openness with confirming and disconfirming evidence), understanding standards of practice, and drawing relevant and appropriate conclusions remain important.


Assuntos
Neuropsiquiatria , Neurociências , Humanos , Psiquiatria Legal , Prova Pericial
10.
Behav Sci Law ; 42(1): 56-64, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38163822

RESUMO

The neuropsychiatric contribution to capital sentencing proceedings has grown substantially in recent decades as the consideration of neurological and psychiatric factors in criminal behavior has been increasingly accepted as relevant to the quest for justice. This review article will focus on the legal theories underlying neuropsychiatric input into capital sentencing decisions, as well as some of the investigative techniques and resulting data which may be offered by forensic neuropsychiatrists in this context. The death penalty is unique in its severity and irreversibility, as the courts, including the U.S. Supreme Court, have noted repeatedly. "Death is different," and the recognition of this has generated a set of court decisions and statutes pertinent specifically to capital proceedings, both procedural and substantive.


Assuntos
Pena de Morte , Neuropsiquiatria , Psiquiatria , Humanos , Aplicação da Lei , Direito Penal
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