"Don't know" sign: description and evaluation of its diagnostic accuracy for cognitive impairment.

OBJECTIVES: Patients in neurology clinics are sometimes not aware of the reason for the consultation, and we have called this circumstance the "Don't know" sign (DKS). Our objective was to define this new sign and its modalities and to evaluate its prevalence and its diagnostic accuracy for cognitive impairment (CI) in comparison to other observation-based signs. DESIGN, SETTING, AND PARTICIPANTS: A cross-sectional prospective study included all new outpatients evaluated by the authors at neurology consultation. MEASUREMENTS: We recorded observation-based signs. The Global Deterioration Scale (GDS) was used to assess the cognitive status of patients, based on clinical history, caregiver interview, and cognitive test results. We analyzed the prevalence and the diagnostic accuracy for CI of DKS, "head turning sign," "attending with," verbal repetition, and combinations, calculating sensitivity (Se), specificity (Sp), positive predictive value (PPV), and negative predictive value (NPV). RESULTS: We enrolled 673 consecutive patients (62% female) with a mean ± SD age of 59.3 ± 20.2 years. DKS was positive in 94 patients (14%) and was strongly associated with GDS score. DKS had a Se of 0.41, Sp of 0.98, PPV of 0.89, and NPV of 0.79 for CI diagnosis. The presence of at least two positive observation signs yielded a Se of 0.50, Sp of 0.97, PPV of 0.86, and NPV of 0.81. CONCLUSIONS: DKS is frequently observed in neurology outpatients. It has low sensitivity but high specificity and PPV for CI diagnosis. It does not require additional consultation time, and its use can be recommended in combination with other observation-based signs.

Carpenter syndrome in a patient from Tanzania.

Carpenter syndrome (acrocephalopolysyndactyly type II) is a rare autosomal recessive disorder. It was clinically diagnosed in a female baby with polysyndactyly and craniosynostosis in a referral clinic in Northern Tanzania. In the RAB23 gene, a previously described homozygous variant c.82C>T p.(Arg28*) was detected that results in a premature stop codon. Both parents were demonstrated to be heterozygous carriers of this variant. Herewith, its pathogenicity is proved. A literature search suggests this is the first molecularly confirmed case of Carpenter syndrome in continental Africa.

Discriminative validity of an abbreviated Semantic Verbal Fluency Test.

Semantic verbal fluency (SVF) is one of the most widely used tests for cognitive assessment due to its diagnostic utility (DU). OBJECTIVE: our objective is to evaluate the DU to detect cognitive impairment (CI) of a short version of the SVF applied in 30 seconds (SVF1-30). METHODS: a prospective sample of consecutive patients evaluated in a Neurology Unit between December 2016 and December 2017 were assessed with the Global Deterioration Scale (GDS), 30-second and 60-second SVF tests (animals), and the Fototest, which includes a fluency task of people's names. The DU for CI was evaluated by the area under the ROC curve and effect size ("d" Cohen). RESULTS: the study included 1012 patients (256 with CI, 395 with dementia). SVF1-30 shows a good correlation with GDS stage. The DU of SVF1-30 is identical to that of the classical version, applied in 60 seconds, (SVFtotal) for CI (0.89 ± 0.01; p > 0.50), and shows no significant difference for dementia (0.85 ± 0.01 vs. 0.86 ± 0.01, p > 0.15). DISCUSSION: the DU of SVF1-30 is similar to that of the SVFtotal, allowing a reduction in examination time with no loss of discriminative capacity.

A fluência verbal semântica (SVF) é um dos testes mais utilizados na avaliação cognitiva devido à sua utilidade diagnóstica (UD). OBJETIVO: Nosso objetivo foi o de avaliar o DU de uma versão abreviada do SVF aplicado em 30 segundos (SVF1-30) para a detecção do comprometimento cognitivo (CC). MÉTODOS: Amostra prospectiva de pacientes avaliados em uma Unidade de Neurologia entre dezembro de 2016 e dezembro de 2017. Global Deterioration Scale (GDS), um teste de SVF (animais), registrando os resultados em 30 e 60 segundos e Fototest, que inclui uma tarefa de fluência de nomes de pessoas foram aplicadas. A UD para CC foi avaliada pela área sob a curva ROC e o tamanho do efeito ("d" Cohen). RESULTADOS: foram incluídos 1012 sujeitos (256 CC e 395 demência). O SVF1-30 mostrou uma boa correlação com o estágio GDS. A UD de SVF1-30 é idêntico ao da versão clássica (SVFtotal) para CC (0,89 ± 0,01; p > 0,50) e sem diferença significativa para demência (0,85 ± 0,01 vs. 0,86 ± 0,01; p > 0,15). DISCUSSÃO: a UD do SVF1-30 é similar ao SVFtotal, o que permite diminuir o tempo de exploração sem perder a capacidade discriminativa.

Discriminative validity of an abbreviated Semantic Verbal Fluency Test / Validade discriminativa de um teste abreviado de Fluência Verbal Semântica

ABSTRACT. Semantic verbal fluency (SVF) is one of the most widely used tests for cognitive assessment due to its diagnostic utility (DU). Objective: our objective is to evaluate the DU to detect cognitive impairment (CI) of a short version of the SVF applied in 30 seconds (SVF1-30). Methods: a prospective sample of consecutive patients evaluated in a Neurology Unit between December 2016 and December 2017 were assessed with the Global Deterioration Scale (GDS), 30-second and 60-second SVF tests (animals), and the Fototest, which includes a fluency task of people's names. The DU for CI was evaluated by the area under the ROC curve and effect size ("d" Cohen). Results: the study included 1012 patients (256 with CI, 395 with dementia). SVF1-30 shows a good correlation with GDS stage. The DU of SVF1-30 is identical to that of the classical version, applied in 60 seconds, (SVFtotal) for CI (0.89 ± 0.01; p > 0.50), and shows no significant difference for dementia (0.85 ± 0.01 vs. 0.86 ± 0.01, p > 0.15). Discussion: the DU of SVF1-30 is similar to that of the SVFtotal, allowing a reduction in examination time with no loss of discriminative capacity.

RESUMO. A fluência verbal semântica (SVF) é um dos testes mais utilizados na avaliação cognitiva devido à sua utilidade diagnóstica (UD). Objetivo: Nosso objetivo foi o de avaliar o DU de uma versão abreviada do SVF aplicado em 30 segundos (SVF1-30) para a detecção do comprometimento cognitivo (CC). Métodos: Amostra prospectiva de pacientes avaliados em uma Unidade de Neurologia entre dezembro de 2016 e dezembro de 2017. Global Deterioration Scale (GDS), um teste de SVF (animais), registrando os resultados em 30 e 60 segundos e Fototest, que inclui uma tarefa de fluência de nomes de pessoas foram aplicadas. A UD para CC foi avaliada pela área sob a curva ROC e o tamanho do efeito ("d" Cohen). Resultados: foram incluídos 1012 sujeitos (256 CC e 395 demência). O SVF1-30 mostrou uma boa correlação com o estágio GDS. A UD de SVF1-30 é idêntico ao da versão clássica (SVFtotal) para CC (0,89 ± 0,01; p > 0,50) e sem diferença significativa para demência (0,85 ± 0,01 vs. 0,86 ± 0,01; p > 0,15). Discussão: a UD do SVF1-30 é similar ao SVFtotal, o que permite diminuir o tempo de exploração sem perder a capacidade discriminativa.