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It is debated whether primary progressive apraxia of speech (PPAOS) and progressive agrammatic aphasia (PAA) belong to the same clinical spectrum, traditionally termed non-fluent/agrammatic variant primary progressive aphasia (nfvPPA), or exist as two completely distinct syndromic entities with specific pathologic/prognostic correlates. We analysed speech, language and disease severity features in a comprehensive cohort of patients with progressive motor speech impairment and/or agrammatism to ascertain evidence of naturally occurring, clinically meaningful non-overlapping syndromic entities (e.g. PPAOS and PAA) in our data. We also assessed if data-driven latent clinical dimensions with aetiologic/prognostic value could be identified. We included 98 participants, 43 of whom had an autopsy-confirmed neuropathological diagnosis. Speech pathologists assessed motor speech features indicative of dysarthria and apraxia of speech (AOS). Quantitative expressive/receptive agrammatism measures were obtained and compared with healthy controls. Baseline and longitudinal disease severity was evaluated using the Clinical Dementia Rating Sum of Boxes (CDR-SB). We investigated the data's clustering tendency and cluster stability to form robust symptom clusters and employed principal component analysis to extract data-driven latent clinical dimensions (LCD). The longitudinal CDR-SB change was estimated using linear mixed-effects models. Of the participants included in this study, 93 conformed to previously reported clinical profiles (75 with AOS and agrammatism, 12 PPAOS and six PAA). The remaining five participants were characterized by non-fluent speech, executive dysfunction and dysarthria without apraxia of speech or frank agrammatism. No baseline clinical features differentiated between frontotemporal lobar degeneration neuropathological subgroups. The Hopkins statistic demonstrated a low cluster tendency in the entire sample (0.45 with values near 0.5 indicating random data). Cluster stability analyses showed that only two robust subgroups (differing in agrammatism, executive dysfunction and overall disease severity) could be identified. Three data-driven components accounted for 71% of the variance [(i) severity-agrammatism; (ii) prominent AOS; and (iii) prominent dysarthria]. None of these data-driven LCDs allowed an accurate prediction of neuropathology. The severity-agrammatism component was an independent predictor of a faster CDR-SB increase in all the participants. Higher dysarthria severity, reduced words per minute and expressive and receptive agrammatism severity at baseline independently predicted accelerated disease progression. Our findings indicate that PPAOS and PAA, rather than exist as completely distinct syndromic entities, constitute a clinical continuum. In our cohort, splitting the nfvPPA spectrum into separate clinical phenotypes did not improve clinical-pathological correlations, stressing the need for new biological markers and consensus regarding updated terminology and clinical classification.

The non-fluent/agrammatic variant of primary progressive aphasia (nfvPPA) is a neurodegenerative syndrome primarily defined by the presence of apraxia of speech (AoS) and/or expressive agrammatism. In addition, many patients exhibit dysarthria and/or receptive agrammatism. This leads to substantial phenotypic variation within the speech-language domain across individuals and time, in terms of both the specific combination of symptoms as well as their severity. How to resolve such phenotypic heterogeneity in nfvPPA is a matter of debate. 'Splitting' views propose separate clinical entities: 'primary progressive apraxia of speech' when AoS occurs in the absence of expressive agrammatism, 'progressive agrammatic aphasia' (PAA) in the opposite case, and 'AOS + PAA' when mixed motor speech and language symptoms are clearly present. While therapeutic interventions typically vary depending on the predominant symptom (e.g. AoS versus expressive agrammatism), the existence of behavioural, anatomical and pathological overlap across these phenotypes argues against drawing such clear-cut boundaries. In the current study, we contribute to this debate by mapping behaviour to brain in a large, prospective cohort of well characterized patients with nfvPPA (n = 104). We sought to advance scientific understanding of nfvPPA and the neural basis of speech-language by uncovering where in the brain the degree of MRI-based atrophy is associated with inter-patient variability in the presence and severity of AoS, dysarthria, expressive agrammatism or receptive agrammatism. Our cross-sectional examination of brain-behaviour relationships revealed three main observations. First, we found that the neural correlates of AoS and expressive agrammatism in nfvPPA lie side by side in the left posterior inferior frontal lobe, explaining their behavioural dissociation/association in previous reports. Second, we identified a 'left-right' and 'ventral-dorsal' neuroanatomical distinction between AoS versus dysarthria, highlighting (i) that dysarthria, but not AoS, is significantly influenced by tissue loss in right-hemisphere motor-speech regions; and (ii) that, within the left hemisphere, dysarthria and AoS map onto dorsally versus ventrally located motor-speech regions, respectively. Third, we confirmed that, within the large-scale grammar network, left frontal tissue loss is preferentially involved in expressive agrammatism and left temporal tissue loss in receptive agrammatism. Our findings thus contribute to define the function and location of the epicentres within the large-scale neural networks vulnerable to neurodegenerative changes in nfvPPA. We propose that nfvPPA be redefined as an umbrella term subsuming a spectrum of speech and/or language phenotypes that are closely linked by the underlying neuroanatomy and neuropathology.

Verbal and oral apraxia are two possible consequences of stroke. It seems that there are not sufficient studies regarding the frequency of these disorders. This study aimed to evaluate the frequency of Verbal and oral apraxia. In addition, the relationship between apraxia and some variables such as age, gender, and education, as well as the relationship between types of apraxia with each other, and damaged areas of the brain in apraxia of the oral system in Persian-speaking patients with stroke were studied. In this descriptive-analytical study, 42 patients participated using the convenient sampling method. Verbal and oral apraxia were assessed using the oral and verbal apraxia tasks for adults test. Data were analyzed using independent t-test, Chi-square, and Fisher's exact test. The frequency of patients with oral apraxia was 35.7%, those with verbal apraxia was 2.3%, and the combination of both verbal and oral apraxia was 4.7%. People with apraxia were significantly older than those without apraxia. There was not any significant relationship between apraxia and gender, apraxia and education, and oral apraxia with verbal apraxia (p < 0.05). The present study's findings showed the high frequency of post-stroke apraxia and the high rate of its incidence with age. [ABSTRACT FROM AUTHOR]

PurposeWe characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder who carry heterozygous missense variants of the PRKAR1B gene, which encodes the R1β subunit of the cyclic AMP-dependent protein kinase A (PKA).MethodsVariants of PRKAR1B were identified by single- or trio-exome analysis. We contacted the families and physicians of the six individuals to collect phenotypic information, performed in vitro analyses of the identified PRKAR1B-variants, and investigated PRKAR1B expression during embryonic development.ResultsRecent studies of large patient cohorts with neurodevelopmental disorders found significant enrichment of de novo missense variants in PRKAR1B. In our cohort, de novo origin of the PRKAR1B variants could be confirmed in five of six individuals, and four carried the same heterozygous de novo variant c.1003C>T (p.Arg335Trp; NM_001164760). Global developmental delay, autism spectrum disorder, and apraxia/dyspraxia have been reported in all six, and reduced pain sensitivity was found in three individuals carrying the c.1003C>T variant. PRKAR1B expression in the brain was demonstrated during human embryonal development. Additionally, in vitro analyses revealed altered basal PKA activity in cells transfected with variant-harboring PRKAR1B expression constructs.ConclusionOur study provides strong evidence for a PRKAR1B-related neurodevelopmental disorder.

RESUMO Objetivo Elaborar um protocolo de avaliação do planejamento motor da fala com estímulos fonologicamente balanceados para o português brasileiro e que contemple todas as variáveis necessárias para este diagnóstico. Método Foram realizadas três etapas: Na primeira, construíram-se listas de palavras cujo critério principal foram os padrões silábicos e acentuais. Do levantamento realizado na Etapa 1, procedeu-se à seleção dos vocábulos que compuseram a primeira versão do protocolo na Etapa 2, reunidas em duas tarefas: de repetição e de Leitura em Voz Alta (LVA). Em seguida, investigou-se a ocorrência das palavras usando a base de dados do Corpus Brasileiro (PUC-SP) - Linguateca. Na etapa 3 realizou-se a análise estatística para verificar se as listas de repetição e de LVA estavam equilibradas quanto à ocorrência das palavras. Assim, as listas foram distribuídas em quartis e foram analisadas de forma descritiva e bivariada. O nível de significância utilizado foi de 5%. Resultados Após a realização de todas as etapas, foi possível obter as palavras que compuseram as listas das tarefas de repetição e de LVA. Finalmente, foram então acrescidas ao protocolo as demais tarefas consideradas essenciais para a avaliação da apraxia como as taxas diadococinéticas e a prancha para a emissão oral espontânea. Conclusão O protocolo desenvolvido contém as tarefas consideradas padrão para a avaliação da apraxia de fala pela literatura internacional, o que torna esse instrumento importante para o diagnóstico desse distúrbio em falantes do português brasileiro.

Background and importanceApraxia of speech is a disorder of articulatory coordination and planning in speech sound production. Its diagnosis is based on deficits in articulation, prosody, and fluency. It is often described concurrent with aphasia or dysarthria, while pure apraxia of speech is a rare entity.Clinical presentationA right-handed man underwent focal surgical resection of a recurrent grade III astrocytoma in the left hemisphere dorsal premotor cortex located in the posterior middle frontal gyrus. After the procedure, he experienced significant long-term speech production difficulties. A battery of standard and custom language and articulatory assessments were administered, revealing intact comprehension and naming abilities, and preserved strength in orofacial articulators, but considerable deficits in articulatory coordination, fluency, and prosody-consistent with diagnosis of pure apraxia of speech. Tractography and resection volumes compared with publicly available imaging data from the Human Connectome Project suggest possible overlap with area 55b, an under-recognized language area in the dorsal premotor cortex and has white matter connectivity with the superior longitudinal fasciculus.ConclusionThe case reported here details a rare clinical entity, pure apraxia of speech resulting from resection of posterior middle frontal gyrus. While not a classical language area, emerging literature supports the role of this area in the production of fluent speech, and has implications for surgical planning and the general neurobiology of language.

Alien limb refers to movements that seem purposeful but are independent of patients reported intentions. Alien limb often co-occurs with apraxia in the corticobasal syndrome, and anatomical and phenomenological comparisons have led to the suggestion that alien limb and apraxia may be causally related as failures of goal-directed movements. Here, we characterised the nature of alien limb symptoms in patients with the corticobasal syndrome (n = 30) and their relationship to limb apraxia. Twenty-five patients with progressive supranuclear palsy Richardson syndrome served as a disease control group. Structured examinations of praxis, motor function, cognition and alien limb were undertaken in patients attending a regional specialist clinic. Twenty-eight patients with corticobasal syndrome (93%) demonstrated significant apraxia and this was often asymmetrical, with the left hand preferentially affected in 23/30 (77%) patients. Moreover, 25/30 (83%) patients reported one or more symptoms consistent with alien limb. The range of these phenomena was broad, including changes in the sense of ownership and control as well as unwanted movements. Regression analyses showed no significant association between the severity of limb apraxia and either the occurrence of an alien limb or the number of alien limb phenomena reported. Bayesian estimation showed a low probability for a positive association between alien limb and apraxia, suggesting that alien limb phenomena are not likely to be related to severity apraxia. Our results shed light on the phenomenology of these disabling and as yet untreatable clinical features, with relevance to theoretical models of voluntary action.

RESUMO Objetivo Apresentar a tradução e adaptação transcultural do Apraxia of Speech Rating Scale (ASRS) versão 3.5 para o português brasileiro. Método Estudo de validação restrito à tradução e adaptação transcultural. Foram realizadas as seguintes etapas: tradução e síntese das traduções; verificação da aplicabilidade da síntese da escala por juízes, recrutados para tal finalidade; análise da relevância e da viabilidade da escala, calculadas pelo Índice de Validade de Conteúdo (IVC) individual (IVC-I) e total (IVC-T). Foram selecionados 18 fonoaudiólogos, cujas respostas foram utilizadas para a análise de concordância (coeficientes de correlação intraclasse - CCI) e o cálculo do Índice de Validade de Conteúdo (IVC). Por fim, a síntese da tradução foi equiparada quanto à equivalência semântica, idiomática, experiencial, conceitual, sintática, gramatical e operacional. Resultados O CCI variou entre 0,83 e 0,94. Seis itens obtiveram valores superiores a 0,9. Os demais itens apresentaram valores entre 0,8 e 0,9. O IVC-I e IVC-T apresentaram excelentes valores (IVC ≥ 0,78) para a relevância e viabilidade. Conclusão A versão brasileira do ASRS 3.5 apresenta equivalência semântica, idiomática, experiencial, conceitual e sintática/gramatical em relação ao original, dessa forma, está apta para as próximas etapas de validação.

To investigate the role and influence of apraxia regarding dementia severity in Alzheimer's disease (AD). In addition, to examine whether apraxia or its association to dementia severity show distinct characteristics between typical and atypical variants of AD, that commonly include frontal, logopenic, posterior, and Down's syndrome variant. The search conducted on 4 December 2020 in the Cinahl, Ovid Medline, PsycArticles, PsycInfo, Scopus and Web of Science databases yielded 251 non-duplicate records published since 2000. Ten records examining the association between Clinical Dementia Rating (CDR) scores and apraxia in AD were included in the review. Dementia severity was related to apraxia in AD, and the prevalence and severity of apraxia increased as dementia progressed. Constructional, ideomotor (imitation of meaningless gestures), orofacial, speech, gait, and total praxis, including constructional, ideomotor, and ideational praxis, tasks differentiated dementia severity in AD. In the atypical variants of AD apraxia occurred frequently but because of the small number of participants, no statistical analyses were available. The results highlight the need for extensive assessment of AD severity, and praxis assessment throughout the disease course. Apraxia affects the independent functioning and communication of the patient, tool use, and the ability to perform activities of daily living. Apraxia occurs frequently in AD and other neurodegenerative diseases, and apraxia assessment has shown to differentiate AD from other neurodegenerative diseases, particularly frontotemporal dementia. Thus, apraxia assessment serves in recognizing the atypical variants of AD as well. [ABSTRACT FROM AUTHOR]

Aim of this study was to investigate the effect of post-stroke oral apraxia on dysphagia in patients with subacute stroke. We retrospectively analyzed the clinical data of 130 supratentorial stroke patients from January 2015 to February 2021 who underwent a formal limb and oral apraxia test and videofluoroscopic swallowing study (VFSS), and we compared the patients in two groups: the apraxia and non-apraxia (oral apraxia score > 45 and ≤ 45 points, respectively). All the patients participated in the standardized testing battery. The test variables were videofluoroscopic dysphagia scale (VDS), oral transit time (OTT), pharyngeal delay time (PDT), pharyngeal transit time, and penetration-aspiration scale (PAS); we conducted multivariable regression analysis with those parameters to confirm the significance of oral apraxia as a clinical determinant of post-stroke dysphagia. The mean oral apraxia scores were 38.4 and 47.6 points in the apraxia and non-apraxia groups, respectively (p < 0.001). The apraxia group had a higher proportion of delayed OTT for the 2-mL-thick liquid than the non-apraxia group (17.6% and 4.2%, respectively; p = 0.011). Oral apraxia was a significant determinant of VDS (p < 0.001), delayed OTT of 2-mL-thick liquids (p = 0.028), delayed PDT of cup drinking for thin liquid (p = 0.044), and PAS scores (p = 0.003). The presence of oral apraxia was significantly associated with dysphagia, especially with the VFSS parameters of the oral phase (thick liquid), pharyngeal phase (cup drinking for thin liquid) of swallowing, and increased risk of aspiration in subacute stroke patients. Thus, a formal assessment of oral apraxia is needed for stroke patients with dysphagia. [ABSTRACT FROM AUTHOR]