RESUMO
Mature interpersonal decentering is a form of social cognitive role-taking involving reflective thought about one's interpersonal relationships. Previous research examining main effects for persons, card situation content, story content, and person-card interactions found more mature decentering in stories about heterosexual romantic-pull Thematic Apperception Test (TAT) cards (HRC) as compared with stories about nonromantic cards (NRC). To see whether differences in means corresponded to differential criterion validity, this multi-method study examined Inventory of Interpersonal Problems circumplex (IIP-C) scores associated with young adults' decentering maturity and deficits, comparing correlations with IIP-C scores of decentering scores calculated from HRC versus NRC. Similarly, to test the effect of story content, IIP-C scores were correlated with decentering scores calculated from stories having romantic versus nonromantic story content. Using circumplex statistical tests, decentering deficits were associated with domineering/vindictive interpersonal problems, and mature decentering with nonassertive/exploitable problems. Men who reported more exploitable problems decentered more maturely across all situations. Women who decentered more maturely in response to HRC reported more socially avoidant problems, whereas those who decentered more maturely to NRC reported more exploitable problems. Results for romantic versus nonromantic story content were largely uninterpretable (did not meet circumplexity assumption). Findings might assist clinicians' card selection.
Assuntos
Relações Interpessoais , Teste de Apercepção Temática , Feminino , Humanos , Masculino , Adulto JovemRESUMO
This study investigated the predictive utility of assessing clients' object relations functioning to prognosticate therapy dropout, quality of the early working alliance and psychotherapy process events reported by clients after their first five sessions. Clients accepting a recruitment invitation were administered the thematic apperception test (TAT) shortly after intake, and those still in treatment three to four sessions later rated the working alliance and psychotherapy process events. Participants were 47 clients beginning psychotherapy with advanced doctoral practicum students at a university-based community-serving training clinic. The Social Cognition and Object Relations Scales (SCORS), an object relations scoring system for TAT stories, was used to assess object relations functioning. The California Psychotherapy Alliance Scales-Patient form measured four dimensions of the alliance. The Therapy Orientation Process Scales, created from the Psychotherapy Process Q-set, measured clients' perceptions of therapy process events as involving relatively more psychodynamic or cognitive behavioural techniques. The SCORS significantly predicted remaining in therapy, client ratings of stronger working alliance and typical therapy process as more psychodynamic than cognitive behavioural. SCORS complexity of representations and capacity for emotional investment in relationships scales were the strongest predictors, especially of the patient commitment facet of the alliance. The findings suggest that (1) beginning psychotherapy with object relations assessment can be useful for treatment planning and (2) the relationship between clients' object relations functioning, working alliance and greater sensitivity to psychodynamic than to cognitive behavioural interventions depends on the aspect of object relations that is being assessed.
Assuntos
Apego ao Objeto , Pacientes Ambulatoriais/psicologia , Processos Psicoterapêuticos , Psicoterapia , Aliança Terapêutica , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
Assessors using storytelling assessment techniques have debated the relative importance of picture imagery (card pull) versus story content for interpreting clients' stories. This study used generalizability theory to compare sources of variance in scores for Feffer's Interpersonal Decentering as a function of persons, cards, raters, or interactions. Representing situational activation of mature role-taking (mentalizing of interpersonal processes), decentering activity should differ across interpersonal situations according to the social role norms involved, resulting in more variance due to card pull than for previously studied scoring systems. Decentering scores from stories told to heterosexual romantic-pull pictures were compared with those for other pictures and with scores from romantic versus nonromantic stories to identify score variance explained by card pull and story content. Considering cards as analogs for life situations, person-card interaction explained more decentering variance (53.7%) than did other effects. Heterosexual romantic-pull pictures stimulated more mature decentering than others; story content did not explain significant variance. Women told more mature decentering stories to heterosexual romantic-pull pictures than to other pictures, and more so than men did. Finding strong person-card interaction illuminates typically low internal consistency for content-based scoring systems. Recommendations for clinicians include implications for card selection and story content interpretation.
Assuntos
Interação Social , Teste de Apercepção Temática , Adulto , Feminino , Humanos , MasculinoRESUMO
BACKGROUND: Depressed primary care patients may present with somatic symptoms first, complicating differential diagnosis. Clinicians have few instruments for assessing this comorbidity. OBJECTIVE: To evaluate the psychometrics of the translated Chinese Depression and Somatic Symptoms Scale (DSSS) in Americans. PROCEDURES: A total of 491 nonclinical but symptomatic ethnically-diverse individuals completed the DSSS and Center for Epidemiologic Studies Depression Scale (CES-D). RESULTS: Factor analysis yielded 2 distinct factors: depression and somatic symptoms. DSSS and subscales showed internal consistency, reliability, and convergent validity with CES-D and subscales. CONCLUSIONS: These results support DSSS's trustworthiness for US populations. Using DSSS for patient assessment may assist diagnosis and inform interventions.
Assuntos
Depressão/diagnóstico , Transtorno Depressivo Maior/diagnóstico , Sintomas Inexplicáveis , Dor/diagnóstico , Adolescente , Depressão/psicologia , Transtorno Depressivo Maior/psicologia , Análise Fatorial , Feminino , Humanos , Masculino , Dor/psicologia , Psicometria , Reprodutibilidade dos Testes , Traduções , Estados Unidos , Adulto JovemRESUMO
The past decade has seen important developments in thematic apperceptive techniques (TATs), with the creation of new card sets having alternate pictures representing different cultures, new scoring systems becoming available, and increasing international communication of these achievements. However, continuing impediments to the development of a validational literature include lingering mistaken assumptions about the nature of story data, ongoing debates about appropriate psychometric evaluation, and continuing questions about how stimuli and scoring systems should be conceptualized and interpreted. Negotiating the publication system can impede some potential authors. Excellent work on TATs with children is not well known in the adult-focused journals. The labor burden of meeting increasingly sophisticated publication standards might be a barrier to assessors focused on clinical practice. Accumulating a focused evidence base is challenging given the diversity of criterion variables for which TATs have been used. Research on TATs by clinicians can span the science-practice gap, but the narrative arc can be a dramatic one. The articles in this special section on TATs represent important conceptual, methodological, and substantive innovations.
Assuntos
Transtornos da Personalidade/diagnóstico , Inventário de Personalidade , Teste de Apercepção Temática , Humanos , Personalidade , Técnicas Projetivas , PsicometriaRESUMO
Stories told about pictures have been used for both research and clinical practice since the beginning of modern personality assessment. However, with the growing science-practice gap, these thematic apperceptive techniques (TATs) have been used differently in those 2 venues. Scientific validation is presumptively general, but clinical application is idiographic and situation-specific. A bridge is needed. The manualized human-scored narrative analysis systems discussed here are valuable scientist-practitioner tools, but they require a validation literature to support further research publication, maintain their role in clinical training, and justify clinicians' reimbursement by third-party payers. To facilitate wider understanding of manualized TAT methodologies, this article addresses long-standing criticisms of TAT reliability and proposes some strategic solutions to the measurement error problem for both researchers and clinicians, including analyzing person-situation interactions, purposeful situation sampling for within-storyteller comparisons, and uses of small samples. The new rules for TATs include conceptual and methodological standards that researchers should aim to meet and report, reviewers should apply to manuscripts, and clinical assessors can use to analyze their own data and justify third-party payment.
Assuntos
Determinação da Personalidade , Teste de Apercepção Temática , Humanos , Personalidade , Transtornos da Personalidade/diagnóstico , Técnicas Projetivas , Psicometria , Reprodutibilidade dos TestesRESUMO
BACKGROUND: Sarcomeric gene mutations cause hypertrophic cardiomyopathy (HCM). In gene mutation carriers without left ventricular (LV) hypertrophy (G + LVH-), subclinical imaging biomarkers are recognized as predictors of overt HCM, consisting of anterior mitral valve leaflet elongation, myocardial crypts, hyperdynamic LV ejection fraction, and abnormal apical trabeculation. Reverse curvature of the interventricular septum (into the LV) is characteristic of overt HCM. We aimed to assess LV septal convexity in subclinical HCM. METHODS: Cardiovascular magnetic resonance was performed on 36 G + LVH- individuals (31 ± 14 years, 33 % males) with a pathogenic sarcomere mutation, and 36 sex and age-matched healthy controls (33 ± 12 years, 33 % males). Septal convexity (SCx) was measured in the apical four chamber view perpendicular to a reference line connecting the mid-septal wall at tricuspid valve insertion level and the apical right ventricular insertion point. RESULTS: Septal convexity was increased in G + LVH- compared to controls (maximal distance of endocardium to reference line: 5.0 ± 2.5 mm vs. 1.6 ± 2.4 mm, p ≤ 0.0001). Expected findings occurred in G + LVH- individuals: longer anterior mitral valve leaflet (23.5 ± 3.0 mm vs. 19.9 ± 3.1 mm, p ≤ 0.0001), higher relative wall thickness (0.31 ± 0.05 vs. 0.29 ± 0.04, p ≤ 0.05), higher LV ejection fraction (70.8 ± 4.3 % vs. 68.3 ± 4.4 %, p ≤ 0.05), and smaller LV end-systolic volume index (21.4 ± 4.4 ml/m(2) vs. 23.7 ± 5.8 ml/m(2), p ≤ 0.05). Other morphologic measurements (LV angles, sphericity index, and eccentricity index) were not different between G + LVH- and controls. CONCLUSIONS: Septal convexity is an additional previously undescribed feature of subclinical HCM.
Assuntos
Cardiomiopatia Hipertrófica/diagnóstico , Ventrículos do Coração/patologia , Imagem Cinética por Ressonância Magnética , Adolescente , Adulto , Doenças Assintomáticas , Cardiomiopatia Hipertrófica/genética , Cardiomiopatia Hipertrófica/patologia , Cardiomiopatia Hipertrófica/fisiopatologia , Estudos de Casos e Controles , Feminino , Marcadores Genéticos , Predisposição Genética para Doença , Ventrículos do Coração/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Fenótipo , Valor Preditivo dos Testes , Volume Sistólico , Função Ventricular Esquerda , Adulto JovemRESUMO
Age-related macular degeneration (AMD) is a leading cause of visual loss in Western populations. Susceptibility is influenced by age, environmental and genetic factors. Known genetic risk loci do not account for all the heritability. We therefore carried out a genome-wide association study of AMD in the UK population with 893 cases of advanced AMD and 2199 controls. This showed an association with the well-established AMD risk loci ARMS2 (age-related maculopathy susceptibility 2)-HTRA1 (HtrA serine peptidase 1) (P =2.7 × 10(-72)), CFH (complement factor H) (P =2.3 × 10(-47)), C2 (complement component 2)-CFB (complement factor B) (P =5.2 × 10(-9)), C3 (complement component 3) (P =2.2 × 10(-3)) and CFI (P =3.6 × 10(-3)) and with more recently reported risk loci at VEGFA (P =1.2 × 10(-3)) and LIPC (hepatic lipase) (P =0.04). Using a replication sample of 1411 advanced AMD cases and 1431 examined controls, we confirmed a novel association between AMD and single-nucleotide polymorphisms on chromosome 6p21.3 at TNXB (tenascin XB)-FKBPL (FK506 binding protein like) [rs12153855/rs9391734; discovery P =4.3 × 10(-7), replication P =3.0 × 10(-4), combined P =1.3 × 10(-9), odds ratio (OR) = 1.4, 95% confidence interval (CI) = 1.3-1.6] and the neighbouring gene NOTCH4 (Notch 4) (rs2071277; discovery P =3.2 × 10(-8), replication P =3.8 × 10(-5), combined P =2.0 × 10(-11), OR = 1.3, 95% CI = 1.2-1.4). These associations remained significant in conditional analyses which included the adjacent C2-CFB locus. TNXB, FKBPL and NOTCH4 are all plausible AMD susceptibility genes, but further research will be needed to identify the causal variants and determine whether any of these genes are involved in the pathogenesis of AMD.
Assuntos
Cromossomos Humanos Par 6 , Estudo de Associação Genômica Ampla , Imunofilinas/genética , Degeneração Macular/genética , Proteínas Proto-Oncogênicas/genética , Receptores Notch/genética , Tenascina/genética , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Feminino , Loci Gênicos , Predisposição Genética para Doença , Haplótipos , Humanos , Modelos Lineares , Modelos Logísticos , Masculino , Razão de Chances , Polimorfismo de Nucleotídeo Único , Análise de Componente Principal , Receptor Notch4 , Análise de Sequência de DNA , Proteínas de Ligação a TacrolimoRESUMO
BACKGROUND: Clinical interpretation of the large number of rare variants identified by high throughput sequencing (HTS) technologies is challenging. The aim of this study was to explore the clinical implications of a HTS strategy for patients with hypertrophic cardiomyopathy (HCM) using a targeted HTS methodology and workflow developed for patients with a range of inherited cardiovascular diseases. By comparing the sequencing results with published findings and with sequence data from a large-scale exome sequencing screen of UK individuals, we sought to quantify the strength of the evidence supporting causality for detected candidate variants. METHODS AND RESULTS: 223 unrelated patients with HCM (46±15 years at diagnosis, 74% males) were studied. In order to analyse coding, intronic and regulatory regions of 41 cardiovascular genes, we used solution-based sequence capture followed by massive parallel resequencing on Illumina GAIIx. Average read-depth in the 2.1 Mb target region was 120. Rare (frequency<0.5%) non-synonymous, loss-of-function and splice-site variants were defined as candidates. Excluding titin, we identified 152 distinct candidate variants in sarcomeric or associated genes (89 novel) in 143 patients (64%). Four sarcomeric genes (MYH7, MYBPC3, TNNI3, TNNT2) showed an excess of rare single non-synonymous single-nucleotide polymorphisms (nsSNPs) in cases compared to controls. The estimated probability that a nsSNP in these genes is pathogenic varied between 57% and near certainty depending on the location. We detected an additional 94 candidate variants (73 novel) in desmosomal, and ion-channel genes in 96 patients (43%). CONCLUSIONS: This study provides the first large-scale quantitative analysis of the prevalence of sarcomere protein gene variants in patients with HCM using HTS technology. Inclusion of other genes implicated in inherited cardiac disease identifies a large number of non-synonymous rare variants of unknown clinical significance.
Assuntos
Cardiomiopatia Hipertrófica/genética , Sequenciamento de Nucleotídeos em Larga Escala , Sarcômeros/genética , Adulto , Substituição de Aminoácidos/genética , Cardiomiopatia Hipertrófica/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Polimorfismo de Nucleotídeo Único , Sarcômeros/metabolismoRESUMO
AIMS: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease predominantly caused by mutations in desmosomal protein genes. Lamin A/C gene (LMNA) mutations are associated with dilated cardiomyopathy, conduction abnormalities and high incidence of sudden cardiac death. In this study, we screened a large cohort of ARVC patients for LMNA mutations. METHODS AND RESULTS: One hundred and eight patients from unrelated families with borderline (n = 27) or definite (n = 81) diagnosis of ARVC were genetically tested for five desmosomal genes and LMNA. Sixty-one (56.5%) were positive for desmosomal gene mutations. Standard polymerase chain reaction (PCR) amplification of the 12 protein-coding LMNA exons was performed and mutational screening performed by direct sequencing. Four patients (4%) without desmosomal gene mutations carried LMNA variants. Three had severe right ventricular involvement, and during follow-up three died (two suddenly and one from congestive heart failure); all three had conduction abnormalities on resting 12-lead electrocardiogram (ECG). Myocardial tissue from two patients showed myocyte loss and fibro-fatty replacement. In one of these, immunohistochemical staining with antibody to plakoglobin showed reduced/absent staining of the intercalated discs in the myocardium. CONCLUSION: Lamin A/C gene mutations can be found in severe forms of ARVC. Lamin A/C gene should be added to desmosomal genes when genetically testing patients with suspected ARVC, particularly when they also have ECG evidence for conduction disease.
Assuntos
Displasia Arritmogênica Ventricular Direita/genética , Desmossomos/genética , Lamina Tipo A/genética , Mutação de Sentido Incorreto/genética , Adulto , Idade de Início , Idoso , Displasia Arritmogênica Ventricular Direita/diagnóstico , Proteínas do Citoesqueleto/genética , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , LinhagemRESUMO
This review builds on those conducted over 25 years ago by Panek and Hayslip in examining the literature dealing with the use of verbal expressive techniques with older adults. Such findings based on the Rorschach Ink Blot Test, Holtzman Inkblot Technique, Hand Test, Sentence Completion methods, and the Thematic Apperception Test and kindred thematic apperceptive techniques are presented and evaluated regarding the evidence for age differences, differential diagnosis, extraneous individual differences in performance, and adequacy of normative data. Although available evidence appears to warrant the continued use of verbal expressive techniques with older adults, more adequately designed studies are necessary to fully support the potential of these assessment tools for decision making with this population: assisting in diagnosis, recommending the appropriateness of various living arrangements, facilitating supportive care choices, and aiding in treatment planning.
Assuntos
Envelhecimento/psicologia , Personalidade , Adulto , Fatores Etários , Idoso , Demência/psicologia , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Testes de Personalidade , PsicometriaRESUMO
Potential risks and ethical considerations inherent in surrogacy arrangements place tremendous responsibility on mental health professionals performing the necessary assessments, yet there is little discussion and no consensus on the best testing protocol. In the U.S., the Minnesota Multiphasic Personality Inventory-2 (MMPI-2) and the Personality Assessment Inventory (PAI) are the most common psychological measures used to screen gestational surrogates (GSs), although these self-report symptom inventories reveal tendencies to underreport, deny problems and present positive impressions that may conceal important clinical information. This study examines the utility of a multi-method approach in the psychological evaluation of GS candidates. A total of 43 women cleared to be GSs completed the PAI and an abbreviated protocol of a narrative construction assessment measure (The Thematic Apperception Test (TAT)) as part of the psychological screening process. Findings of the study show that utilising a multi-method approach in the psychological consideration of a GS can address the limitations inherent in a single-measure assessment approach. Including a narrative measure such as the TAT that is less affected by defensiveness found on self-report scales may allow for more subtleties in interpretation, helping assessors to identify women who may have particular psychological vulnerabilities. These might then be addressed through implications counselling.
Assuntos
MMPI , Determinação da Personalidade , Feminino , Humanos , AutorrelatoRESUMO
In the US, over 95 million people have been infected with COVID and over 1 million have died. 10% of Californians are infected with COVID with higher rates reported among Latinx, Pacific Islanders, and low-income people. Higher death rates have been reported among African Americans. People living with Alzheimer's Disease (AD) are also more likely to be infected with COVID. African Americans with AD have three times the COVID rate of Whites. Homecare workers who care for moderate to severe AD in home and community settings are frontline essential workers who manage complex AD-related problems like incontinence. Little is known about communication and problem-solving processes between homecare workers and families of people with AD to manage continence at home. This report describes the challenges facing homecare workers illustrated by an African American family caring for a relative with advanced AD during pandemic.
RESUMO
BACKGROUND: Macular degeneration is known to be a bilateral disease. This study set out to determine the symmetry of phenotype between eyes of patients with bilateral early AMD (or drusen) or late-stage AMD. This may be important information when considering the likelihood of anti-VEGF treatment. METHODS: This prospective, observational, cross-sectional study graded the color fundus photographs of both eyes of 1,114 Caucasian patients with either early or late-stage AMD. Patients were recruited from a tertiary referral UK population. The main outcomes were phenotype, comparison of number, type and overall area of drusen in early AMD and symmetry of late AMD. RESULTS: The overall agreement of phenotype in the entire cohort of patients was 53%, kappa statistic (κ)=0.31, (95% CI = 0.27-0.36). Within this group, a total of 271 patients were identified with bilateral soft and hard drusen (early AMD). Symmetry of phenotype within this group was high in terms of total of area of drusen (agreement = 79%, weighted κ = 0.75) and number of drusen. In those with bilateral geographic atrophy (GA), symmetry between area of GA was moderate (agreement 72%, weighted κ = 0.54), and in those with bilateral neovascular disease (choroidal neovascularization or pigment epithelial detachment), symmetry was poor (agreement 45%, weighted κ = 0.16). Out of the entire cohort, 62% (n = 688) had neovascular disease in at least one eye and 37.5% of these had bilateral disease. CONCLUSIONS: The observed symmetry of phenotype between eyes with drusen appears to reduce in GA and neovascular forms of AMD. Overall, 53% of the cohort had symmetrical disease in terms of phenotype, 23% had neovascular disease in both eyes, 9.3% had GA in both eyes, and 39% of patients had neovascular disease in one eye and non-neovascular disease in the other. This may have implications for the potential need for anti-VEGF treatment of AMD in second eye involvement.
Assuntos
Neovascularização de Coroide/diagnóstico , Lateralidade Funcional , Atrofia Geográfica/patologia , Degeneração Macular/diagnóstico , Drusas Retinianas/patologia , Idoso , Idoso de 80 Anos ou mais , Neovascularização de Coroide/classificação , Estudos Transversais , Feminino , Humanos , Degeneração Macular/classificação , Masculino , Pessoa de Meia-Idade , Fenótipo , Estudos ProspectivosRESUMO
Our study examined differences in HIV-related coping in relation to depression in men and women. Ethnically diverse participants (n = 247, 46% women) were recruited in Dallas/Fort Worth and completed medical and demographic information, the Coping with HIV Scale (CHIV), and the Center for Epidemiological Studies-Depression scale (CES-D). Multiple regression analyses revealed that in men, depression was associated with symptoms, higher use of distraction, blame, expression and lower use of positive growth. In women, depression was associated with symptoms and higher use of blame. These results shed light on the ways in which each gender copes with HIV and may help researchers develop interventions tailored to the needs of the HIV-positive population.
Assuntos
Adaptação Psicológica/fisiologia , Depressão/psicologia , Infecções por HIV/psicologia , Homens/psicologia , Mulheres/psicologia , Adulto , Idoso , Depressão/epidemiologia , Depressão/etnologia , Feminino , Infecções por HIV/epidemiologia , Infecções por HIV/etnologia , Humanos , Masculino , Pessoa de Meia-Idade , Análise de Componente Principal , Fatores Sexuais , Inquéritos e Questionários , Texas/epidemiologia , Adulto JovemRESUMO
Acculturation theories and research find that both new culture acquisition and heritage culture attachment are associated with positive outcomes. However, gender-related analyses are rare. In this mixed-method study of 73 Asian Indian American women who were first- or second-generation immigrants from Kerala, India, those classified as behaviorally bicultural, assimilated, separated, or marginalized did not differ significantly in well-being. Being older and married was related to higher self-esteem; unmarried women reported more Kerala attitudinal marginalization. With age, marital status, immigrant generation, and both cultural behavioral orientations controlled, Kerala attitudinal marginalization (but not Anglo attitudinal marginalization) correlated moderately with both lower self-esteem and more severe depressive symptoms. Content analysis of open-ended question data suggested associations among more intricate and multifaceted acculturation processes and psychological well-being via the rewards and challenges the women described. Attaining the "best of both worlds" that some mentioned meant selective adoption and rejection of facets of each culture: family connectedness and control, freedom and moral decline, opportunity, and discrimination. For these women, status-related characteristics (being younger and single representing lower status), discrimination experiences, and attitudinal rejection of their heritage culture (although it accords women lower status than men) had negative psychological outcomes. (PsycInfo Database Record (c) 2020 APA, all rights reserved).
Assuntos
Aculturação , Asiático/psicologia , Emigrantes e Imigrantes , Saúde Mental , Marginalização Social , Adulto , Depressão/psicologia , Feminino , Humanos , Casamento , Autoimagem , Estados UnidosRESUMO
American and Chinese literatures on emotion-focused coping show inconsistent associations with distress, attributable to criterion contamination problems with measures. This problem was remedied by the American Emotional Approach Coping (EAC) scales, which are not confounded with distress; however, there is no Chinese counterpart. The EAC is of theoretical interest for exploring cross-cultural models of psychological and physical health since it allows one to measure emotion processing (theoretically lowering distress) without emotion expression (maintaining collectivist group harmony). In the present study, the EAC scales were translated into Chinese and their factorial, criterion, and discriminant validity as well as measurement invariance of the two versions were examined in 353 Chinese and 491 Americans. Previous validational findings for American EAC scales were replicated and configural and metric invariance demonstrated, supporting the comparable reliability and validity of the Chinese EAC scales. Chinese showed fewer gender differences than Americans.
Assuntos
Adaptação Psicológica , Emoções , China , Humanos , Psicometria , Reprodutibilidade dos TestesRESUMO
OBJECTIVES: To determine (1) detailed retinal and audiological features of probands harboring the A3243G mitochondrial DNA mutation (m.3243A>G) and their asymptomatic maternal relatives, (2) intrafamilial and interfamilial phenotypic variability, and (3) the presence of other systemic features. METHODS: Seven probands harboring the A3243G mitochondrial DNA mutation and 36 asymptomatic maternal relatives were ascertained. Participants underwent ophthalmologic examination, fundus photography, autofluorescence imaging, and audiological evaluation and completed a questionnaire. Blood samples were taken to test for diabetes, determine renal function, and screen relatives for the A3243G mutation. RESULTS: The A3243G mutation was associated with both intrafamilial and interfamilial variable expressivity regarding retinal appearance, hearing loss, diabetes, and other systemic features. The most common macular appearance in maternal relatives (one-third of those positive for the mutation) was mild abnormalities of the retinal pigment epithelium (more clearly identified using autofluorescence), which may therefore be a useful clinical indicator suggesting positive mutation status. Four probands and 13 mutation-positive relatives were found to have evidence of significant bilateral, cochlear, symmetrical age-adjusted hearing loss, predominantly affecting high frequencies. CONCLUSIONS: Hearing loss and macular disturbance were the most frequent findings in mutation-positive participants, with 95% of mutation-positive relatives having hearing loss. Diabetes was the least frequent finding. Patients with progressive hearing loss may merit ophthalmologic assessment to detect retinal abnormalities consistent with the A3243G mutation. Conversely, patients with macular features in keeping with the A3243G mutation should have audiological testing, even in the absence of diabetes or a positive family history.
Assuntos
DNA Mitocondrial/genética , Surdez/genética , Degeneração Macular/genética , Mutação Puntual , Retina/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Audiometria , Glicemia/análise , Análise Mutacional de DNA , Feminino , Fluorescência , Humanos , Degeneração Macular/diagnóstico , Masculino , Pessoa de Meia-Idade , Linhagem , Epitélio Pigmentado Ocular/patologia , Acuidade VisualRESUMO
PURPOSE: Retinitis pigmentosa is a clinically and genetically heterogeneous disorder. It is characterized by progressive degeneration of the peripheral retina, leading to night blindness and loss of the peripheral visual field. PRPF31 is one of four pre-mRNA splicing factors identified as causing autosomal dominant retinitis pigmentosa, with incomplete penetrance being the unique feature associated with mutations in this gene. The purpose of this study was to identify PRPF31 mutations in a cohort of 118 cases of autosomal dominant retinitis pigmentosa and determine the genotype-phenotype correlation emerging from the spectrum of mutations in this gene. METHODS: Probands with autosomal dominant retinitis pigmentosa underwent ophthalmic evaluation. Blood samples were obtained, genomic DNA was isolated, and PRPF31 exons along with adjacent splice junctions were amplified by PCR and screened by direct sequencing. RESULTS: In the 118 individuals with autosomal dominant retinitis pigmentosa, six mutations were identified, of which four were novel. One previously known splice site mutation was identified in two other apparently unrelated families. CONCLUSIONS: Mutations in PRPF31 causing adRP were present in nearly 5% of a mixed U.K. population. The age of onset and the severity of the disease varied with different mutations. In addition, individuals carrying the same mutation showed a range of phenotypic variation, suggesting the involvement of other modifying genes.