Vocal Parameters and Self-Perception in Individuals With Adductor Spasmodic Dysphonia.

OBJECTIVE: The study aimed to compare and correlate perceptual-auditory analysis of vocal parameters and self-perception in individuals with adductor spasmodic dysphonia before and after the application of botulinum toxin. STUDY DESIGN: This is a prospective cohort study. METHODS: Sixteen individuals with a diagnosis of adductor spasmodic dysphonia were submitted to the application of botulinum toxin in the thyroarytenoid muscle, to the recording of a voice signal, and to the Voice Handicap Index (VHI) questionnaire before the application and at two time points after application. Two judges performed a perceptual-auditory analysis of eight vocal parameters with the aid of the Praat software for the visualization of narrow band spectrography, pitch, and intensity contour. RESULTS: Comparison of the vocal parameters before toxin application and on the first return revealed a reduction of oscillation intensity (P = 0.002), voice breaks (P = 0.002), and vocal tremor (P = 0.002). The same parameters increased on the second return. The degree of severity, strained-strangled voice, roughness, breathiness, and asthenia was unchanged. The total score and the emotional domain score of the VHI were reduced on the first return. There was a moderate correlation between the degree of voice severity and the total VHI score before application and on the second return, and a weak correlation on the first return. CONCLUSIONS: Perceptual-auditory analysis and self-perception proved to be efficient in the recognition of vocal changes and of the vocal impact on individuals with adductor spasmodic dysphonia under treatment with botulinum toxin, permitting the quantitation of changes along time.

Cross-cultural adaptation and validation of the episodic autobiographic memory interview for Brazilian Portuguese / Validação e adaptação transcultural da entrevista para avaliação da memória episódica autobiográfica para o português brasileiro

Episodic memory enables the storage of personal events with specific temporal and spatial details, and their retrieval through a sensory experience, usually visual, which is called autonoetic consciousness. While, in Brazil, several scales for the evaluation of anterograde episodic memory have been validated, there is not yet an instrument to assess the episodic autobiographical memory. The aim of this study is thus to make a cross-cultural adaptation and validation of the Episodic Autobiographic Memory Interview (EAMI) for Brazilian Portuguese. Altogether, 11 patients with Alzheimer’s disease (AD) and 10 healthy controls (CTs) were evaluated. EAMI scores for AD patients were lower than those of CTs, and these scores also correlated positively with the Remember-Know coefficient. The intraclass correlation coefficient indicated a good inter-rater reliability. The Portuguese version of EAMI showed a good reliability and validity, which suggests that it is a useful tool for evaluation of autobiographical memory in Brazilian patients.

A memória episódica possibilita o arquivamento de eventos pessoais, com seus detalhes temporais e espaciais, e sua recuperação através de uma experiência sensorial, geralmente visual, chamada de consciência autonoética. No Brasil, foram validados vários instrumentos para avaliação da memória episódica anterógrada, porém não há ainda uma escala para avaliar a memória episódica autobiográfica. O objetivo deste estudo é realizar uma validação e adaptação transcultural da Entrevista para avaliação da Memória Episódica Autobiográfica (EMEA) para o português brasileiro. Onze pacientes com doença de Alzheimer (DA) e 10 controles normais foram avaliados. Os escores dos pacientes com DA na EMEA foram menores do que nos controles saudáveis. Estes escores se correlacionaram positivamente com o coeficiente Lembrar-Saber. O coeficiente de correlação intraclasse indicou uma confiabilidade inter-examinadores adequada. A EMEA demonstrou uma boa validade e confiabilidade, sugerindo que ela é um instrumento útil para a avaliação da memória autobiográfica em pacientes brasileiros.

Cross-cultural adaptation and validation of the episodic autobiographic memory interview for Brazilian Portuguese.

Episodic memory enables the storage of personal events with specific temporal and spatial details, and their retrieval through a sensory experience, usually visual, which is called autonoetic consciousness. While, in Brazil, several scales for the evaluation of anterograde episodic memory have been validated, there is not yet an instrument to assess the episodic autobiographical memory. The aim of this study is thus to make a cross-cultural adaptation and validation of the Episodic Autobiographic Memory Interview (EAMI) for Brazilian Portuguese. Altogether, 11 patients with Alzheimer's disease (AD) and 10 healthy controls (CTs) were evaluated. EAMI scores for AD patients were lower than those of CTs, and these scores also correlated positively with the Remember-Know coefficient. The intraclass correlation coefficient indicated a good inter-rater reliability. The Portuguese version of EAMI showed a good reliability and validity, which suggests that it is a useful tool for evaluation of autobiographical memory in Brazilian patients.

Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.

BACKGROUND: Recently, a number of patients have been described with structural rearrangements at 3q13.31, delineating a novel microdeletion syndrome with common clinical features including developmental delay and other neurodevelopmental disorders (NDD). A smallest region of overlapping deletions (SRO) involved five RefSeq genes, including the transcription factor gene ZBTB20 and the dopamine receptor gene DRD3, considered as candidate genes for the syndrome. METHODS AND RESULTS: We used array comparative genomic hybridization and next-generation mate-pair sequencing to identify key structural rearrangements involving ZBTB20 in two patients with NDD. In a patient with developmental delay, attention-deficit hyperactivity disorder, psychosis, Tourette's syndrome and autistic traits, a de novo balanced t(3;18) translocation truncated ZBTB20. The other breakpoint did not disrupt any gene. In a second patient with developmental delay and autism, we detected the first microdeletion at 3q13.31, which truncated ZBTB20 but did not involve DRD3 or the other genes within the previously defined SRO. Zbtb20 directly represses 346 genes in the developing murine brain. Of the 342 human orthologous ZBTB20 candidate target genes, we found 68 associated with NDD. Using chromatin immunoprecipitation and quantitative PCR, we validated the in vivo binding of Zbtb20 in evolutionary conserved regions in six of these genes (Cntn4, Gad1, Nrxn1, Nrxn3, Scn2a, Snap25). CONCLUSIONS: Our study links dosage imbalance of ZBTB20 to a range of neurodevelopmental, cognitive and psychiatric disorders, likely mediated by dysregulation of multiple ZBTB20 target genes, and provides new knowledge on the genetic background of the NDD seen in the 3q13.31 microdeletion syndrome.

Validation and internal consistency of Patient Health Questionnaire-9 for major depression in Parkinson's disease.

BACKGROUND: depression is common in Parkinson's disease (PD), although frequently under-recognised. Among the scales used to investigate depressive features in PD, the Patient Health Questionnaire-9 (PHQ-9) has been largely used, but no specific cut-off scores for depression have been established thus far, which hinders the use of the PHQ-9 in clinical and research settings. OBJECTIVE: we assessed the discriminant validity of the PHQ-9 in order to establish the best cut-off score for the diagnosis of major depression in PD patients. METHOD: one hundred and ten patients with a diagnosis of PD without dementia were evaluated with the Structured Clinical Interview for DSM-IV (SCID), considered as the gold standard for the diagnosis of major depression. Eighty-four PD patients completed the PHQ-9, the 15-item Geriatric Depression Scale (GDS-15) and the Zung Self-rating Depression Scale (SDS). RESULTS: the prevalence of current depression in the sample of PD patients was 25.5%. Maximal discrimination between depressed and non-depressed patients was reached with a cut-off score of 9 in the PHQ-9 (sensitivity of 100% and specificity of 83.1%). The internal consistency of the scale was 0.83 and, when used as a diagnostic instrument, the PHQ-9 had a sensitivity of 52.6% and specificity of 95.4%. The correlation coefficient between the PHQ-9 and the other two scales was 0.63. CONCLUSIONS: the PHQ-9 is an adequate instrument for the screening-but not diagnosis-of depression in PD patients, with optimal sensitivity and specificity attained with a cut-off score of 9.

Validity of the Brazilian version of the freezing of gait questionnaire.

OBJECTIVE: To validate the freezing of gait questionnaire (FOG-Q) for a Brazilian population of Parkinson's disease (PD) patients. METHODS: One hundred and seven patients with a diagnosis of PD were evaluated by shortened UPDRS motor scale (sUPDRm), Hoehn and Yahr (HY), Schwab and England scale (SE), Berg balance scale (BBS), falls efficacy scale international (FES-I), gait and balance scale (GABS), and the FOG-Q Brazilian version. RESULTS: 47.7% of PD patients had FOG episodes; this group had worse scores on sUPDRSm, FOGQ, FES-I, BBS, GABS and FOG item of UPDRS when compared to the PD group without FOG. The internal consistency was 0.86, intra-rater 0.82 and inter-rater 0.78. The FOG-Q Brazilian version was significantly correlated with items related to gait and balance. The ROC curve was 0.94, the sensitivity was 0.90and specificity was 0.92. CONCLUSION: Our study suggests that the FOG-Q Brazilian version is a reliable and valid instrument for assessing FOG in PD patients.

Validity of the Brazilian version of the freezing of gait questionnaire / Validação da versão brasileira da escala de congelamento da marcha

OBJECTIVE: To validate the freezing of gait questionnaire (FOG-Q) for a Brazilian population of Parkinson's disease (PD) patients. METHODS: One hundred and seven patients with a diagnosis of PD were evaluated by shortened UPDRS motor scale (sUPDRm), Hoehn and Yahr (HY), Schwab and England scale (SE), Berg balance scale (BBS), falls efficacy scale international (FES-I), gait and balance scale (GABS), and the FOG-Q Brazilian version. RESULTS: 47.7% of PD patients had FOG episodes; this group had worse scores on sUPDRSm, FOGQ, FES-I, BBS, GABS and FOG item of UPDRS when compared to the PD group without FOG. The internal consistency was 0.86, intra-rater 0.82 and inter-rater 0.78. The FOG-Q Brazilian version was significantly correlated with items related to gait and balance. The ROC curve was 0.94, the sensitivity was 0.90and specificity was 0.92. CONCLUSION: Our study suggests that the FOG-Q Brazilian version is a reliable and valid instrument for assessing FOG in PD patients.

OBJETIVO: Validar a escala de congelamento da marcha (FOG-Q) para a população brasileira com doença de Parkinson (DP). MÉTODOS: Cento e sete pacientes com diagnóstico de DP foram avaliados através da versão reduzida da escala UPDRS motora (UPDRSm), HY (Hoehn e Yahr), SE (Schwab e England), escala de equilíbrio de Berg (BBS), escala internacional de medo de quedas (FES-I), escala de marcha e equilíbrio (GABS) e FOG-Q. RESULTADOS: 47,7% dos pacientes com DP foram identificados com congelamento da marcha. Este grupo obteve resultados significativamente piores nas UPDRSm, FOGQ, FES-I, BBS, GABS e no item de congelamento da UPDRS em comparação ao grupo sem o sintoma. A consistência interna da escala foi 0,86, a confiabilidade inter-examinador 0,82 e intra-examinador 0,78. Curva ROC de 0,94, sensibilidade 0,90 e especificidade 0,92. CONCLUSÃO: Nosso estudo demonstra que a versão brasileira da escala de congelamento da marcha é válida para avaliar o congelamento da marcha em pacientes com DP.

Validity of the PHQ-2 for the screening of major depression in Parkinson's disease: two questions and one important answer.

INTRODUCTION: Depression is the most common psychiatric comorbidity in Parkinson's disease (PD), but is often under-diagnosed and under-recognized. OBJECTIVES: To evaluate and compare the psychometric qualities of the Patient Health Questionnaire (PHQ-2) and the depression item of the Unified Parkinson's Disease Rating Scale (UPDRS). METHOD: Cross-sectional study conducted at a movement disorders outpatient clinic. One hundred ten patients with a diagnosis of PD without dementia were evaluated. A neurologist administered the PHQ-2 and the UPDRS, and the diagnosis of major depression was performed using the structured clinical interview for DSM disorders - clinical version. Two self-rating scales (Zung Self-rating Depression Scale and 15-item Geriatric Depression Scale) were also used. RESULTS: The prevalence of current depression in the sample was 25.5% (n = 28). The scores of the PHQ-2 discriminated between subjects with and without depression, with an area under the receiver operating characteristic curve of 0.90. The sensitivity and specificity for a cut-off score of three were 75% and 89%, respectively. The values for the depression item of the UPDRS were slightly lower. CONCLUSION: The PHQ-2 is a valid tool for screening depression in PD.

Shape alterations in the striatum in chorea-acanthocytosis.

Chorea-acanthocytosis (ChAc) is an uncommon autosomal recessive disorder due to mutations of the VPS13A gene, which encodes for the membrane protein chorein. ChAc presents with progressive limb and orobuccal chorea, but there is often a marked dysexecutive syndrome. ChAc may first present with neuropsychiatric disturbance such as obsessive-compulsive disorder (OCD), suggesting a particular role for disruption to striatal structures involved in non-motor frontostriatal loops, such as the head of the caudate nucleus. Two previous studies have suggested a marked reduction in volume in the caudate nucleus and putamen, but did not examine morphometric change. We investigated morphometric change in 13 patients with genetically or biochemically confirmed ChAc and 26 age- and gender-matched controls. Subjects underwent magnetic resonance imaging and manual segmentation of the caudate nucleus and putamen, and shape analysis using a non-parametric spherical harmonic technique. Both structures showed significant and marked reductions in volume compared with controls, with reduction greatest in the caudate nucleus. Both structures showed significant shape differences, particularly in the head of the caudate nucleus. No significant correlation was shown between duration of illness and striatal volume or shape, suggesting that much structural change may have already taken place at the time of symptom onset. Our results suggest that striatal neuron loss may occur early in the disease process, and follows a dorsal-ventral gradient that may correlate with early neuropsychiatric and cognitive presentations of the disease.