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1.
Transl Psychiatry ; 13(1): 397, 2023 Dec 16.
Artigo em Inglês | MEDLINE | ID: mdl-38104115

RESUMO

Genome-wide (GWAS) and copy number variant (CNV) association studies have reproducibly identified numerous risk alleles associated with bipolar disorder (BD), major depressive disorder (MDD), and schizophrenia (SCZ), but biological characterization of these alleles lags gene discovery, owing to the inaccessibility of live human brain cells and inadequate animal models for human psychiatric conditions. Human-derived induced pluripotent stem cells (iPSCs) provide a renewable cellular reagent that can be differentiated into living, disease-relevant cells and 3D brain organoids carrying the full complement of genetic variants present in the donor germline. Experimental studies of iPSC-derived cells allow functional characterization of risk alleles, establishment of causal relationships between genes and neurobiology, and screening for novel therapeutics. Here we report the creation and availability of an iPSC resource comprising clinical, genomic, and cellular data obtained from genetically isolated families with BD and related conditions. Results from the first 324 study participants, 61 of whom have validated pluripotent clones, show enrichment of rare single nucleotide variants and CNVs overlapping many known risk genes and pathogenic CNVs. This growing iPSC resource is available to scientists pursuing functional genomic studies of BD and related conditions.


Assuntos
Transtorno Depressivo Maior , Células-Tronco Pluripotentes Induzidas , Transtornos Psicóticos , Esquizofrenia , Animais , Humanos , Células-Tronco Pluripotentes Induzidas/metabolismo , Transtorno Depressivo Maior/genética , Transtorno Depressivo Maior/metabolismo , Transtornos Psicóticos/metabolismo , Esquizofrenia/genética , Esquizofrenia/metabolismo , Genômica , Estudo de Associação Genômica Ampla
2.
J Psychiatr Res ; 123: 159-163, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32065952

RESUMO

The Mood Disorder Questionnaire (MDQ) is an established screening tool for bipolar spectrum disorders (BSD), but has not been validated in diverse populations and the best scoring method remains uncertain. This study assessed diagnostic validity of the MDQ among Anabaptists, an underserved population frequently involved in genetic research. 161 participants completed the MDQ and were diagnosed by a best-estimate final diagnosis (BEFD). Diagnostic agreements between alternate MDQ scoring methods and the BEFD were quantified using Cohen's Kappa (κ), sensitivity (α), and specificity (ß). Scoring criteria evaluated included >7 simultaneous symptoms and at least moderate impairment, >7 simultaneous symptoms, with at least mild impairment, >7 symptoms only, with no further requirement, and three novel scoring methods that require >5 symptoms or fewer. Diagnostic agreement varied. The original method proved most specific but had the lowest κ and sensitivity. κ increased with more liberal scoring criteria, reaching a maximum under the lower-threshold symptom methods, with little loss of specificity in the 5-symptom method. Decreasing the symptom threshold below 5 conferred little or no benefit. These results support the diagnostic validity of the MDQ among this Anabaptist sample and suggest that a 5-symptom scoring method may increase diagnostic sensitivity in populations at high risk for bipolar disorder.


Assuntos
Transtorno Bipolar , Transtorno Bipolar/diagnóstico , Humanos , Programas de Rastreamento , Transtornos do Humor/diagnóstico , Sensibilidade e Especificidade , Inquéritos e Questionários
3.
J Pers Assess ; 101(5): 556-566, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-29611717

RESUMO

Growing evidence supports Therapeutic Assessment (TA), a collaborative and therapeutic approach to psychological assessment, as an effective method for enhancing motivation for and engagement with psychotherapy across a variety of clinical populations and treatment settings. However, to date there are no known studies assessing the use of TA in child psychiatric inpatient settings. This article briefly reviews the structure of child and family TA, enumerates the challenges and risks associated with short-term inpatient stays, and proposes a path for integrating TA into these units as a way to enhance the quality of care and reduce the risk of rapid rehospitalization. The authors provide three case examples from a child psychiatric inpatient unit, each using a modified version of TA and each integrating assessments into brief family interventions. The authors conclude with suggestions for best practice for child psychiatric inpatient TAs.


Assuntos
Proteção da Criança/psicologia , Pacientes Internados/psicologia , Motivação , Criança , Comportamento Infantil/psicologia , Família , Humanos , Psicoterapia/métodos
4.
J Adolesc ; 36(5): 839-48, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24011100

RESUMO

Achieving a sense of purpose during adolescence is a developmental asset; however, searching for that purpose may be a developmental stressor. Supportive parent-child relationships may help youth during this stressful experience. The present study included 207 female students in the sixth, eighth, and tenth grades from two competitive private schools. Searching for purpose negatively predicted self-esteem. Hierarchical linear regression examined moderating effects of parental trust and alienation on searching for purpose as a predictor of self-esteem. Parental alienation significantly moderated the association between search for purpose and girls' self-esteem; conversely, parental trust did not moderate the association. Results suggest that parent-child relationships characterized by high levels of parental alienation may exacerbate the pernicious effects of search for purpose. Person-based analyses found four clusters corresponding to Foreclosed Purpose, Diffused Purpose, Uncommitted Purpose/Moratorium, and Achieved Purpose. We discuss implications for practice and research based on these results.


Assuntos
Desenvolvimento do Adolescente , Relações Pais-Filho , Autoimagem , Adolescente , Feminino , Humanos , Quênia , Apego ao Objeto , Satisfação Pessoal , Identificação Social , Inquéritos e Questionários
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