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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]

Purpose: The study's primary aims were to describe the long-term speech outcomes for adolescents and young adults with a history of childhood apraxia of speech (CAS) and to examine the association of persistent speech sound errors with measures of literacy skills, phonological processing, motor speech production, and parent report of early motor difficulty., Method: Data from a large longitudinal 25-year study were used to explore outcomes for 32 individuals with a history of CAS, ages 12;6 (years;months) to 25 years ( M = 17.4, SD = 4.7). Persistent and nonpersistent groups were compared on decoding, phonological processing, multisyllabic word repetition, diadochokinetic rate, and parent report of motor involvement. Parametric (Welch's t tests) and nonparametric tests (Wilcoxon and Fisher exact tests) were used to identify differences between the groups' distributions. Developmental trajectories of speech production were plotted., Results: Outcomes for individuals with CAS are highly variable, with some demonstrating speech sound errors into adolescence and young adulthood. Speech sound errors were primarily on later developing sounds. Persistence was significantly associated with early motor difficulties. Difficulties with multisyllabic words, phonological processing, and literacy were often present regardless of persistence or nonpersistence of speech errors., Conclusions: Children with CAS are at risk for persistent speech sound errors into adulthood. For children showing limited progress with more traditional speech therapy, alternative interventions should be explored. Individuals with persistent speech sound errors are more likely to have a history of early motor deficits. Regardless of persistence, participants with CAS demonstrated ongoing weaknesses in literacy, phonological processing skills, and complex speech production tasks.

Background: Speech and language are interconnected systems, and language disorder often co-occurs with childhood apraxia of speech (CAS) and non-CAS speech sound disorders (SSDs). Potential trade-off effects between speech and language in connected speech in children without overt language disorder have been less explored., Method: Story retell narratives from 24 children (aged 5;0-6;11 [years;months]) with CAS, non-CAS SSD, and typical development were analyzed in Systematic Analysis of Language Transcripts (SALT) regarding morphosyntactic complexity (mean length of C-unit in words [MLCU]), lexical diversity (moving-average type-token ratio [MATTR]), and linguistic accuracy (any linguistic error/bound morpheme omissions) and compared to 128 age-matched children from the SALT database. Linear and mixed-effects logistic regressions were performed with speech accuracy (percent phonemes correct [PPC]) and diagnostic group as predictors of the narrative variables., Results: PPC predicted all narrative variables. Poorer PPC was associated with lower MLCU and MATTR as well as a higher likelihood of linguistic errors. Group differences were only observed for the error variables. Comparison to the SALT database indicated that 13 of 16 children with CAS and SSD showed a higher-than-expected proportion of linguistic errors, with a small proportion explained by individual speech errors only., Conclusions: The high occurrence of linguistic errors, combined with the relationship between PPC and linguistic errors in children with CAS/SSD, suggests a trade-off between speech accuracy and language output. Longitudinal studies are needed to investigate whether children with SSDs without language disorder show more language difficulties over time as linguistic demands increase.

PurposeReal-time magnetic resonance imaging (MRI) and accompanying analytical methods are shown to capture and quantify salient aspects of apraxic speech, substantiating and expanding upon evidence provided by clinical observation and acoustic and kinematic data. Analysis of apraxic speech errors within a dynamic systems framework is provided and the nature of pathomechanisms of apraxic speech discussed.MethodOne adult male speaker with apraxia of speech was imaged using real-time MRI while producing spontaneous speech, repeated naming tasks, and self-paced repetition of word pairs designed to elicit speech errors. Articulatory data were analyzed, and speech errors were detected using time series reflecting articulatory activity in regions of interest.ResultsReal-time MRI captured two types of apraxic gestural intrusion errors in a word pair repetition task. Gestural intrusion errors in nonrepetitive speech, multiple silent initiation gestures at the onset of speech, and covert (unphonated) articulation of entire monosyllabic words were also captured.ConclusionReal-time MRI and accompanying analytical methods capture and quantify many features of apraxic speech that have been previously observed using other modalities while offering high spatial resolution. This patient's apraxia of speech affected the ability to select only the appropriate vocal tract gestures for a target utterance, suppressing others, and to coordinate them in time.

Este trabalho parte de inquietações acerca do atendimento de uma criança, na Clínica de Linguagem, cuja mãe solicitou um diagnóstico diferencial entre Apraxia de Fala na Infância e Transtorno do Espectro Autista. Discute-se a contradição entre a indecidibilidade diagnóstica e a suposta universalidade destas categorias. O objetivo é propor um diagnóstico de linguagem que leve em consideração não somente as inusitadas produções orais de uma criança, mas seu modo de relação à fala do outro e à própria. Utilizou-se como método a discussão de um caso clínico, cujo diagnóstico de linguagem era indicativo de fracassos na inscrição significante no corpo. A intervenção foi realizada sobre o efeito da fala da criança no outro que, à deriva, ficava preso ao espelhamento do gesto motor, impossibilitado de a ele atribuir valor linguístico.

الملخص: تعتبر متلازمة اليد الغريبة من مضاعفات السكتة الدماغية النادرة. بالرغم من أن حدوث المتلازمة بعد السكتة الدماغية غير شائع، إلإ أنها يمكن أن تسبب أثرا معطلا على نمط الحياة والوظيفة لدى المرضى بعد السكتة الدماغية. ومن الصعب التفريق بين متلازمة اليد الغريبة والجلطة المخية النصف كروية غير السائدة مع أعراض العمى الشقي وإهمال النصف الأيسر، حيث إن المرضى بمتلازمة اليد الغريبة يمكن أيضا أن يكون لديهم إهمال وكذلك أعراض سلوكية، إذا كانت تشمل الفص الجبهي. نحن هنا نصف حالة لرجل عمره ٦٢عاما أُدخل إلى قسم إعادة التأهيل وتم علاجه من الإهمال وتعذر الأداء بعد السكتة الدماغية للشريان الدماغي الأوسط الأيمن. بعد المزيد من التقييم، تم تشخيص المريض بمتلازمة اليد الغريبة. وظيفيا، تم تحسنه واختفت الأعراض بعد أربعة أشهر من السكتة الدماغية. في وصف هذه الحالة، قمنا بإبراز صفات متلازمة اليد الغريبة ونهج علاجها الفريد Abstract: Alien hand syndrome (AHS) is a rare post-stroke complication. Although the occurrence of AHS after stroke is rare, it can have a disabling impact on the lifestyle and career of the patients post stroke. It is difficult to distinguish AHS from the non-dominant hemispheric infarction with symptoms of hemianopia and left hemineglect, as patients with AHS can also have neglect as well as behaviour symptoms if the frontal lobe is involved. We report the case of a 62-year-old gentleman who was admitted to the rehabilitation ward and was treated for neglect and apraxia following right middle cerebral artery stroke. After further re-evaluation, the patient was diagnosed with AHS. Functionally, he improved and the symptoms disappeared four months after the stroke. In this case report, we highlight the features of AHS and provide a unique management approach.

Copyright of Estilos da Clínica is the property of FEUSP - Faculdade de Educacao da USP - Universidade de Sao Paulo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Brachial plexus trauma (BPT) often affects young patients and may result in lasting functional deficits. Standard care following BPT involves monitoring for clinical and electrophysiological evidence of muscle reinnervation, with surgical treatment decisions based on the presence or absence of spontaneous recovery. Data are emerging to suggest that central and peripheral adaptation may play a role in recovery following BPT. The present review highlights adaptive and maladaptive mechanisms of central and peripheral nervous system changes following BPT that may contribute to functional outcomes. Rehabilitation and other treatment strategies that harness or modulate these intrinsic adaptive mechanisms may improve functional outcomes following BPT.

Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Ataxia-ocular apraxia 2 (AOA2) is a rare neurodegenerative autosomal recessive disorder with no effective treatment. In this study, we present the case of a patient diagnosed with AOA2, who experienced walking instability and uncoordinated movement. The patient underwent transcranial alternating current stimulation (tACS) treatment for 4 weeks with follow-up after 1 month. The effectiveness of the treatment was evaluated using the International Cooperative Ataxia Rating Scale (ICARS), the Scale for the Assessment and Rating of Ataxia (SARA), the 9-Hole Peg Test (9HPT), and functional near-infrared spectroscopy (fNIRS). Following treatment, the patient's ataxia symptoms showed significant improvement and continued to be alleviated during the follow-up period, suggesting a lasting effect of tACS treatment. Our findings from this case study provide compelling evidence for the potential of tACS as a treatment option for AOA2., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Cerebrolysin concentrate is a medication whose main active ingredient is brain-derived neurotrophic factor. It has been reported to help in the restoration of cognitive function and overall physical function after brain injuries. We present the case of a 72-year-old man with severe oral apraxia due to a left middle cerebral artery ischemic stroke involving the left insular cortex. He was being tube fed due to severe oral apraxia with cognitive decline that made it difficult for him to even imitate simple oral movements. The patient initially had impaired consciousness and cognitive function. He also had limited physical activity due to acute stroke complications, such as hemorrhagic transformation of cerebral infarction, and required bed rest until 23 days after onset. The patient received intravenous cerebrolysin concentrate in addition to intensive rehabilitation therapy from 23 days after onset. After rehabilitation and administration of cerebrolysin concentrate, there was a marked recovery within a short period of time to the point where oral intake of a regular diet was possible, indicating a significant improvement in oral apraxia. It is a notable example of the potential therapeutic effect of cerebrolysin concentrate for post-stroke oral apraxia., Competing Interests: Conflict of Interest: The authors have no potential conflicts of interest to disclose., (Copyright © 2024. Korean Society for Neurorehabilitation.)

Purpose: Little is known about the literacy skills of children with childhood apraxia of speech (CAS) or effective methods for teaching them to read. This systematic scoping review aimed to synthesise what is known about this issue., Method: Nine databases were searched to identify relevant articles. Included articles were categorised by study design, quality, and confidence of CAS diagnosis., Result: Twenty-three articles were included, 17 described literacy skills of children with CAS and six trialled literacy interventions. Children with CAS had early skills deficits that manifest as literacy difficulties in the later school years and beyond. They frequently had poorer outcomes compared with both typical readers and children with other speech disorders. Both the extent of literacy impairment and responsiveness to intervention appear to be related to the severity of speech impairment. Four literacy interventions for children with CAS were identified., Conclusions: Children with CAS are at high risk of literacy difficulty and may require early literacy intervention to help them attain academic success. Further research is warranted to determine the longer-term literacy outcomes of children with CAS, appropriate means of assessment, and whether a systematic synthetic phonics approach is an effective form of literacy instruction for this population.

Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is highly heritable, but the understanding of underlying genetic mechanisms has proved challenging. In this study, we use molecular genetic techniques to investigate an admixed isolated founder population from the Robinson Crusoe Island (Chile), who are affected by a high incidence of SLI, increasing the power to discover contributory genetic factors. We utilize exome sequencing in selected individuals from this population to identify eight coding variants that are of putative significance. We then apply association analyses across the wider population to highlight a single rare coding variant (rs144169475, Minor Allele Frequency of 4.1% in admixed South American populations) in the NFXL1 gene that confers a nonsynonymous change (N150K) and is significantly associated with language impairment in the Robinson Crusoe population (p = 2.04 × 10-4, 8 variants tested). Subsequent sequencing of NFXL1 in 117 UK SLI cases identified four individuals with heterozygous variants predicted to be of functional consequence. We conclude that coding variants within NFXL1 confer an increased risk of SLI within a complex genetic model.

RESUMO Objetivos Revisar sistematicamente os protocolos e/ou avaliações que contribuem para o diagnóstico de apraxia de fala na infância (AFI) e classificá-los de acordo com a dimensão clínica avaliada. Estratégia de pesquisa Estudo de revisão sistemática da literatura nas bases de dados MEDLINE (acessado via PubMed), LILACS, Scopus e SciELO, com os descritores Apraxias, Childhood apraxia of speech, Evaluation, Assessment, Validation Studies, Evaluation Studies, Language Therapy, Rehabilitation of Speech and Language Disorders, Child e Child, Preschool. Critérios de seleção A busca nas bases de dados foi conduzida por três pesquisadores independentes. Foram incluídos estudos que avaliavam, de forma clara, sujeitos com suspeita ou diagnóstico de AFI. Os revisores realizaram a coleta de dados no que diz respeito às características metodológicas, intervenções e desfechos dos estudos, por meio de planilhas previamente elaboradas especificamente para o presente estudo. O dado principal coletado foi referente aos procedimentos de avaliação da AFI para crianças. Resultados A maior parte dos estudos (14 dos 21 incluídos) realizou a associação entre a avaliação de habilidades motoras e/ou articulatórias e segmentais. Cinco realizaram avaliação de todos os aspectos elencados: motor e/ou articulatória, segmental e suprassegmental e dois realizaram apenas avaliação motora e/ou articulatória. A idade dos sujeitos variou de 3 a 12 anos. Conclusão A maioria das pesquisas considerou a associação entre habilidades motoras e/ou articulatórias e segmentais para avaliação da apraxia de fala na infância. Sugere-se a realização de mais estudos, a fim de buscar evidências de validade.

ABSTRACT Purpose To compare the treatment time for acquired neurological disorders of communication and the reason for discharge of users of a medium complexity care service for two periods: before and after implementation of treatment indicators. Methods A retrospective cohort study was carried out involving the analysis of medical records of users of the Adult Language Sector of the Speech and Hearing Therapy Service of the Integrated Rehabilitation Center, seen before and after treatment indicators implementation. Results 129 electronic medical records of users who remained under treatment until discharge from speech therapy in the two studied periods were analyzed. The mean duration of speech therapy for these users was 10.9 months for the first period and 7.8 months for the second period. After implementation of the indicators with regular reassessments, 72 out of the 89 users continued with treatment. There was a statistically significant difference in the therapy average time and reason for discharge before and after treatment indicators implementation. Conclusion After treatment indicators implementation, there was a reduction of the average speech therapy treatment time for communication disorders and an increase of speech therapy discharge percentage of users seen in a Brazilian service of medium complexity.

Senataxin, encoded by the SETX gene, contributes to multiple aspects of gene expression, including transcription and RNA processing. Mutations in SETX cause the recessive disorder ataxia with oculomotor apraxia type 2 (AOA2) and a dominant juvenile form of amyotrophic lateral sclerosis (ALS4). To assess the functional role of senataxin in disease, we examined differential gene expression in AOA2 patient fibroblasts, identifying a core set of genes showing altered expression by microarray and RNA-sequencing. To determine whether AOA2 and ALS4 mutations differentially affect gene expression, we overexpressed disease-specific SETX mutations in senataxin-haploinsufficient fibroblasts and observed changes in distinct sets of genes. This implicates mutation-specific alterations of senataxin function in disease pathogenesis and provides a novel example of allelic neurogenetic disorders with differing gene expression profiles. Weighted gene co-expression network analysis (WGCNA) demonstrated these senataxin-associated genes to be involved in both mutation-specific and shared functional gene networks. To assess this in vivo, we performed gene expression analysis on peripheral blood from members of 12 different AOA2 families and identified an AOA2-specific transcriptional signature. WGCNA identified two gene modules highly enriched for this transcriptional signature in the peripheral blood of all AOA2 patients studied. These modules were disease-specific and preserved in patient fibroblasts and in the cerebellum of Setx knockout mice demonstrating conservation across species and cell types, including neurons. These results identify novel genes and cellular pathways related to senataxin function in normal and disease states, and implicate alterations in gene expression as underlying the phenotypic differences between AOA2 and ALS4.

ObjectiveTo identify early cognitive and neuroimaging features of sporadic nonfluent/agrammatic variant of primary progressive aphasia (nfvPPA) caused by frontotemporal lobar degeneration (FTLD) subtypes.MethodsWe prospectively collected clinical, neuroimaging, and neuropathologic data in 11 patients with sporadic nfvPPA with FTLD-tau (nfvPPA-tau, n = 9) or FTLD-transactive response DNA binding protein pathology of 43 kD type A (nfvPPA-TDP, n = 2). We analyzed patterns of cognitive and gray matter (GM) and white matter (WM) atrophy at presentation in the whole group and in each pathologic subtype separately. We also considered longitudinal clinical data.ResultsAt first evaluation, regardless of pathologic FTLD subtype, apraxia of speech (AOS) was the most common cognitive feature and atrophy involved the left posterior frontal lobe. Each pathologic subtype showed few distinctive features. At presentation, patients with nfvPPA-tau presented with mild to moderate AOS, mixed dysarthria with prominent hypokinetic features, clear agrammatism, and atrophy in the GM of the left posterior frontal regions and in left frontal WM. While speech and language deficits were prominent early, within 3 years of symptom onset, all patients with nfvPPA-tau developed significant extrapyramidal motor signs. At presentation, patients with nfvPPA-TDP had severe AOS, dysarthria with spastic features, mild agrammatism, and atrophy in left posterior frontal GM only. Selective mutism occurred early, when general neurologic examination only showed mild decrease in finger dexterity in the right hand.ConclusionsClinical features in sporadic nfvPPA caused by FTLD subtypes relate to neurodegeneration of GM and WM in frontal motor speech and language networks. We propose that early WM atrophy in nfvPPA is suggestive of FTLD-tau pathology while early selective GM loss might be indicative of FTLD-TDP.

Introdução: Dentre as dificuldades de comunicação encontradas em casos de Transtornos do Espectro do Autismo (TEA), recentemente a literatura tem apontado uma relação de comorbidade com a apraxia de fala na infância (AFI). O objetivo do presente estudo foi relatar a avaliação de AFI em 3 crianças com diagnóstico de TEA. Relato: Os sujeitos foram três crianças com idades entre 4 e 6 anos, com diagnóstico médico de TEA. Os sujeitos foram submetidos à avaliação de linguagem, utilizando o teste avaliação de desenvolvimento da linguagem (ADL) e a prova de vocabulário do teste ABFW, avaliação das praxias orais (sonorizadas, orofaciais, sequência de movimentos e movimentos paralelos) e avaliação de características vocais, prosódicas e de fala. Verificou-se que todos os sujeitos apresentaram atraso moderado de linguagem com melhor desempenho em área receptiva. A dificuldade nas tarefas práxicas orais foram mais evidentes em um dos casos estudados. Já as alterações vocais, prosódicas e de fala compatíveis com AFI apareceram em todos os casos relatados. Conclusão: Nos três casos relatados, foi possível observar sinais de AFI, com prejuízos em habilidades motoras orais, prosódia e praxias orais, assim como inconsistência na produção dos sons da fala.

To analyze the effectiveness of a home-based restorative and compensatory upper limb apraxia (ULA) rehabilitation program. Randomized controlled trial. Neurology Unit of San Cecilio Hospital and 2 private and specialized health care centers. Community dwelling participants (N=38) between the ages of 25 and 95 years old (sex ratio, 1:1) with unilateral mild-to-moderate poststroke lesions (time of evolution since stroke, 12.03±8.98mo) and secondary ULA. Participants were randomly assigned to an 8-week combined ULA functional rehabilitation group (n=19) 3 days per week for 30 minutes or to a traditional health care education protocol group (n=19) once a month for 8 weeks. Both interventions were conducted at home. Sociodemographic and clinical data, Barthel Index (primary outcome), Lawton and Brody Scale, observation and scoring activities of daily living, the De Renzi tests for ideational and ideomotor apraxia and imitating gestures test, recognition of gestures, test for upper limb apraxia , and stroke-specific quality of life scale were assessed at 3 time points: baseline, posttreatment (8wk), and follow-up (8wk). There were statistically significant differences among the groups regarding ideomotor apraxia, imitating gestures, global recognition of gestures, intransitive gestures, and comprehension of gesture production (P <.05) in favor of the experimental group. However, no statistically significant differences were found between the groups regarding functionality or quality of life (P >.05). Regarding the within-group effect, statistically significant differences were found in all neuropsychological outcomes at posttreatment and follow-up (P <.05). A functional rehabilitation program was found to be superior to a traditional health care education program and resulted in improvements in neuropsychological functioning in ULA poststroke. Conventional education showed an insufficient effect on apraxia recovery. Further studies with larger sample sizes are needed to determine the effect of rehabilitation strategies on functionality and quality of life of poststroke ULA patients. [ABSTRACT FROM AUTHOR]

There is a growing body of literature examining the utility of behavioral treatment in primary progressive aphasia (PPA). There are, however, no studies exploring treatment approaches to improve speech production in individuals with apraxia of speech (AOS) associated with the nonfluent variant of PPA. The purpose of this study was to examine a novel approach to treatment of AOS in nonfluent PPA. We implemented a treatment method using structured oral reading as a tool for improving production of multisyllabic words in an individual with mild AOS and nonfluent variant PPA. Our participant showed a reduction in speech errors during reading of novel text that was maintained at one year post-treatment. Generalization of improved speech production was observed on repetition of words and sentences and the participant showed stability of speech production over time in connected speech. Results suggest that oral reading treatment is an efficient and effective means of addressing multisyllabic word production in AOS associated with nonfluent PPA, with lasting and generalized treatment effects.

Purpose: The purpose of this study was to examine whether differences in motor speech features are related to presentations of dysphagia in progressive supranuclear palsy (PSP) given the sparsity of data examining this relationship., Method: Motor speech disorder (MSD) type and severity along with specific swallowing variables were analysed to obtain insights among these relationships in 73 participants with PSP., Result: Results revealed that most participants (93%) had dysarthria, with 19% having co-occurring apraxia of speech (AOS). Greater MSD severity was related to more severe pharyngeal phase impairments (95% CI [-0.917, -0.146], p  = 0.008). While certain motor speech and swallowing scores varied minimally across participants, incremental changes in these functions were more likely to occur when specific MSD features were present. A trend for participants with spastic dysarthria and/or AOS to exhibit more severe dysphagia was observed., Conclusion: This study points to the need for thorough neurological evaluation, with inclusion of speech-language pathology consultation, in the standard of care for PSP. Comprehensive assessment of both motor speech and swallowing functions can inform differential diagnosis and assist patients/families facing decisions regarding modalities for communication and nutrition in the setting of neurodegenerative disease. Additional research may yield greater insights about relevant assessment and intervention considerations in PSP.

Purpose: The purpose of the present study was to explore the ability of Hebrew-speaking children with childhood apraxia of speech (CAS) to produce lexical stress., Method: A total of 36 children aged between 4 and 7 years, 18 children with CAS, and 18 typically developing (TD) children participated in the study. All children completed language and speech assessments. The children imitated 20 weak-strong and strong-weak target words within short sentences and in isolation. Acoustic analysis of the vowels in the stressed and unstressed syllables of the target words and perceptual judgment of the words by six speech-language pathologists were conducted., Results: The acoustic analysis showed significant differences in duration, fundamental frequency, and amplitude between stressed and unstressed vowels in weak-strong and strong-weak words and in both groups of children. The total duration for both the stressed and weak syllables was longer in children with CAS compared to TD children. Rated on a Likert scale of 1-5, where 5 indicates correct production, the productions of lexical stress in the CAS group were judged as above 4 on average but were significantly worse compared to the TD group. The target productions of children with CAS were judged as including excessive, equal, or misplaced stress in 10.8% of the productions, whereas 5.8% of the target productions of the TD children were judged as having inappropriate stress., Conclusions: The present findings suggest that Hebrew-speaking children with CAS produce the acoustic characteristics of lexical stress similarly to their peers, and their productions are perceived as having relatively good lexical stress (above 4), although not as good as TD children.

Introduction: C9orf72 expansion is the most common genetic abnormality in behavioral variant frontotemporal dementia (bvFTD) and amyotrophic lateral sclerosis. Although psychiatric prodromes are common in C9orf72 expansion carriers, there are only scattered reported cases of primary psychiatric disorders, such as bipolar disorder, diagnosed at disease onset. Moreover, C9orf72 carrier status is rarely identified in bipolar disorder genetic studies., Case Report: A 51-year-old, right-handed woman with 16 years of education presented for evaluation of long-standing cognitive and behavioral change. She initially displayed symptoms of mania and florid, multimodal psychotic symptoms at age 39. Her bipolar disorder symptoms were initially responsive to medication; however, she later developed executive dysfunction and behavioral symptoms consistent with bvFTD. She became progressively nonverbal, and her limited speech was notable for speech apraxia. At the time of presentation, she demonstrated cortical sensory deficit, ideomotor and oral-buccal apraxia, and unstable gait. Neuroimaging revealed diffuse brain atrophy. Postmortem histopathological evaluation revealed frontotemporal lobar degeneration with TDP-43 inclusions, type B, and genetic study identified C9orf72 expansion. A detailed review of family history found a strong paternal history of bipolar disorder and substance use disorder., Conclusions: We describe a rare case of C9orf72 expansion initially characterized by late-onset bipolar disorder and florid, multimodal psychotic symptoms, followed years later by bvFTD diagnosis. This report emphasizes the importance of completing a neurological examination, obtaining a detailed family history, and pursuing genetic screening to distinguish between primary psychiatric disorder and bvFTD in individuals who meet the criteria for late-onset bipolar disorder., Competing Interests: The authors declare no conflict of interest., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Navigation skills are essential for independent living as they allow us to explore our environment; find our way to new locations, refine pathways to familiar locations and retrace our route home. Alongside motor coordination difficulties, there is evidence that individuals with Developmental Coordination Disorder (DCD/Dyspraxia) experience spatial processing difficulties, which are known to negatively affect navigation abilities. However, although self-reports indicate that adults with DCD have difficulties with sense of direction and navigation, no known studies have measured navigation abilities and strategies in adults with DCD. Furthermore, given evidence that individuals with DCD report higher levels of anxiety, we will additionally investigate associations between anxiety and navigation in this group., Aims: This study compares navigation abilities, navigation strategies and spatial anxiety in adults with and without DCD., Methods: Participants include 226 Adults aged 18-55 years, across two groups 1) DCD (N = 138, 111 F:25 M; 2:Other) 2); Typically Developing (N = 88, 77 F: 11 M). In this cross-sectional study, participants completed a series of tasks on the online Qualtrics platform. This included the Adult Developmental Coordination Disorder Checklist, the State-Trait Anxiety Inventory, the Wayfinding Anxiety Measure, the Wayfinding Questionnaire, the Wayfinding Strategy Questionnaire, and a navigation task., Results: Our analysis shows that 1) compared to those with typical development, individuals with DCD have similar navigation performance but lower navigation and orientation scores, and distance estimation scores. 2) Movement co-ordination difficulties were only a significant predictor of landmark recognition and egocentric path route knowledge, and played no role for other aspects of navigation performance. 3) For wayfinding strategy use the DCD group used orientation strategies significantly less often than those with typical development, however there was no group difference in the use of route strategies. 4) The DCD group had significantly higher spatial anxiety scores across navigation, manipulation and imagery spatial sub-domains, even after controlling for general anxiety. 5) Spatial navigation anxiety was a significant predictor of navigational skill for all three wayfinding measures (navigation & orientation, distance estimation and spatial anxiety)., Conclusions: The findings establish benchmarks of navigational skills in DCD and highlight spatial anxiety and route strategies as factors that may inhibit navigation success and could help specify suitable intervention targets., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Purpose of reviewAutism spectrum disorders (ASDs) are heterogeneous neurodevelopmental disorders associated with various co-morbidities. Neurological co-morbidities include motor impairments, epilepsy, and sleep dysfunction. These impairments have been receiving more attention recently, perhaps because of their significant impact on the behavior and cognitive function of children with ASDs. Here, we review the epidemiology, etiology, and clinical approach to these neurological co-morbidities and highlight future research directions.Recent findingsMotor impairments include stereotypies, motor delays, and deficits, such as dyspraxia, incoordination, and gait problems. Sleep dysfunction typically presents as difficulty with sleep onset and prolonged awakenings during the night. Recent data suggest that abnormalities in melatonin may affect sleep and may be a potential treatment target. There is no classic epilepsy syndrome associated with ASDs. Intellectual disability, syndromic autism, and female sex are specific risk factors. Recent research has focused on identifying the overlapping pathways between these neurological co-morbidities and the core deficits in ASDs, which may have direct and powerful implications for treatment and prognosis.SummaryMotor impairment, epilepsy, and sleep dysfunction are common neurological co-morbidities in ASDs. Clinicians should be aware that recognition and treatment of these issues may improve the function and outcome of children with ASDs.

Background: Corticobasal syndrome (CBS) is a neurodegeneration characterized by asymmetric parkinsonism, dystonia, myoclonus, and apraxia. In the early stage, CBS presents with asymmetric parkinsonism and cortical symptoms (apraxia and alien hand), and neuroimaging finding is often vague, making early clinical differentiation from idiopathic Parkinson disease (IPD) challenging. This study was performed to delineate the specific patterns of cortical hypoperfusion, dopamine transporter (DAT) uptake using dual-phase FP-CIT PET in discriminating between CBS and IPD at early stage., Patients and Methods: The study enrolled clinically diagnosed CBS (n = 11) and IPD (n = 22) patients (age and sex matched). All participants underwent dual-phase 18 F-FP-CIT PET, and regional SUV ratio (SUVR) was obtained by semiquantitative analysis. The early perfusion imaging and DAT imaging were compared between groups., Results: The regional SUVRs (early phase) of the frontal lobe, thalamus, cingulate, and caudate were significantly lower in patients with CBS, whereas the SUVR of occipital lobe was lower in the IPD group. The CBS group exhibited more prominent asymmetry than the IPD group, particularly in the perirolandic area, superior frontal gyrus, and anterior parietal lobe in early phase PET. Striatal DAT uptake (delayed phase) revealed that the caudate showed lower SUVR and prominent asymmetry in the CBS group, and the caudate-to-putamen ratio (CP ratio) was significantly lower in CBS patients ( P < 0.001). Among the parameters (early and delayed), the CP ratio in DAT exhibited the most powerful discriminative power from receiver operating characteristic curve comparison (area under curve = 0.983)., Conclusions: This study demonstrated that the dual-phase FP-CIT PET is useful in differentiating CBS and IPD in the early stage of the disease, and a lower CP ratio of DAT imaging is highly informative for distinguishing between corticobasal degeneration and IPD., Competing Interests: Conflicts of interest and sources of funding: The authors have no conflicts of interest or financial support to report. This research was supported by the Basic Science Research Program through the National Research Foundation of Korea funded by the Ministry of Education (no. NRF-2022R1F1A1074588; J.H.Y.) and the intramural research fund of Ajou University of Medical Center., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Individuals with childhood apraxia of speech (CAS) were reported to have genetic variations related to gluten sensitivity and some neuroanatomic changes, which could be associated with alterations in neurotransmitters levels such as glutamate and gamma-aminobutyric acid (GABA). The aim was to measure the levels of antigliadin immunoglobulin A (IgA) antibody, glutamate, and GABA in the plasma of children with CAS compared with children with delayed language development (DLD) and neurotypical (NT) children., Methods: The participants (N = 120) were in three groups: Group I for CAS (N = 30), Group II for DLD (N = 60), and Group III for NT (N = 30). The abilities of children in Groups I and II were evaluated. The plasma levels of antigliadin IgA, glutamate, and GABA were determined by enzyme-linked immunosorbent assay., Results: The intelligence quotient and expressive language age in Group I were low compared with Group II (P = 0.001; 0.004). The levels of antigliadin IgA and glutamate in Group I were higher compared with the other two groups, whereas the level of GABA was lower (P < 0.0001). An imbalance between glutamate and GABA was found in Group I. In Group II, no measures differed from NTs except lower GABA levels (P = 0.0007)., Conclusions: The elevated levels of antigliadin IgA antibody and glutamate demonstrated high sensitivity and specificity, differentiating children with CAS from children with DLD and NT children. The low levels of GABA contributed to the imbalance between the excitatory and inhibitory neurotransmitters' levels detected in children with CAS., Competing Interests: Declaration of competing interest The authors declare that they do not have competing interests regarding publishing this article., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Objective: To identify the cortical and subcortical distribution of atrophy and the disorganization of white matter bundles underlying the apraxic disorders in a patient with corticobasal degeneration (CBD). Method: Patient underwent appropriate neuropsychological tasks aimed at identifying the nature of the apraxic disorder and morphometric structural MRI with whole-brain voxel-wise analysis. Results: Progressive limbkinetic apraxia (LKA) with onset in the right upper limb with subsequent extension to the limbs, trunk, orofacial district, and eye movements was documented, associated with element of ideomotor apraxia (IMA). The MRI study showed grey matter atrophy extending to much of the frontal cortex bilaterally, including the precentral cortex, and into the inferior parietal regions. Caudate and putamen were involved on the left. Significant clusters of white matter atrophy were found in the bilateral superior longitudinal fasciculus (SLF), inferior longitudinal fasciculus (ILF) and corpus callosum (CC). Sensory evoked potentials (SEPs) and motor evoked potentials (MEPs) were normal. Conclusion: Previous observations in CBD indicate lack of inhibitory control from the sensory to the primary motor cortex with dysfunctional frontoparietal and cortico-motoneuron projections. Our neuroimaging data are partially consistent with these observations suggesting that the apraxic disorder in our patient might be produced by the disconnection of the primary motor cortex from the parietal areas that prevents selection and control of muscle movements, in the presence of preserved cortico-motoneuron as demonstrated by normal PEM. Apraxic disorders in CBD are high-level deficits of movement control that spare the motoneuron.

Introduction: Speech and language therapists (SLTs) worldwide report challenges with providing recommended, evidence-based intervention intensity for children with speech sound disorder (SSD). Challenges such as service constraints and/or family contexts impact on access to optimal therapy intensity. Existing research indicates that empowering and training parents to deliver intervention at home, alongside SLT support, offers one possible solution to increasing the intensity of intervention children with SSD receive. Digital health could increase accessibility to intensive home practice and help sustain engagement with therapy activities. Further exploration is needed around what makes parent-implemented interventions for children with SSD effective, for who and in which situations. This paper outlines the protocol for a realist review which aims to explore the active ingredients and contextual factors of effective digital parent-led interventions., Methods and Analysis: A realist review will explore the research question, following six stages. The scope of the review will be determined, and initial programme theories will be developed about what works in digital parent-implemented interventions for SSD, for whom, how, why and in what circumstances. Relevant secondary data, identified through a formal search strategy, will be selected, appraised, analysed and synthesised using realist principles to test and further refine the initial programme theories. This process will develop refined underpinning explanatory theories which capture the interaction between contexts, mechanisms and outcomes of the intervention. An expert steering group will provide insight to inform explanatory theories, searches, and dissemination., Ethics and Dissemination: Ethical approval is not required for this review. The refined programme theories from the review will inform the next stages of a wider study. A subsequent realist evaluation will test and further refine theories with key stakeholders. Following this, the underpinning programme theory will be used to coproduce a digital tool, to support parents to deliver home intervention alongside SLT support., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.)

Background: Progressive apraxia of speech (PAOS) is characterized by difficulties with motor speech programming and planning. PAOS targets gray matter (GM) and white matter (WM) microstructure that can be assessed using diffusion tensor imaging (DTI) and multishell applications, such as neurite orientation dispersion and density imaging (NODDI). In this study, we aimed to apply DTI and NODDI to add further insight into PAOS tissue microstructure., Methods: Twenty-two PAOS patients and 26 age- and sex-matched controls, recruited by the Neurodegenerative Research Group (NRG) at Mayo Clinic, underwent diffusion MRI on 3T MRI. Brain maps of fractional anisotropy (FA) and mean diffusivity (MD) from DTI and intracellular volume fraction (ICVF) and isotropic volume fraction (IsoVF) from NODDI were generated. Global WM and GM, and specific WM tracts were identified using tractography and lobar GM regions., Results: Global WM differences between PAOS and controls were greatest for ICVF, and global GM differences were greatest for MD and IsoVF. Abnormalities in key WM tracts involved in PAOS, including the body of the corpus callosum and frontal aslant tract, were identified with FA, MD, and ICVF, with excellent differentiation of PAOS from controls (area under the receiver operating characteristic curves >.90). MD and ICVF identified abnormalities in arcuate fasciculus, thalamic radiations, and corticostriatal tracts. Significant correlations were identified between an index of articulatory errors and DTI and NODDI metrics from the arcuate fasciculus, frontal aslant tract, and inferior longitudinal fasciculus., Conclusions: DTI and NODDI represent different aspects of brain tissue microstructure, increasing the number of potential biomarkers for PAOS., (© 2024 The Authors. Brain and Behavior published by Wiley Periodicals LLC.)

Individuals with childhood apraxia of speech often exhibit greater difficulty with expressive language than with receptive language. As a result, they may benefit from alternative modes of communication. Here, we present a patient with childhood apraxia of speech who used pointing as a means of communication at age 2 ¼ years and self-made gestures at age 3½, when he had severe difficulties speaking in spite of probable normal comprehension abilities. His original gestures included not only word-level expressions, but also sentence-length ones. For example, when expressing "I am going to bed," he pointed his index finger at himself (meaning I ) and then put both his hands together near his ear ( sleep ). When trying to convey the meaning of "I enjoyed the meal and am leaving," he covered his mouth with his right hand ( delicious ), then joined both of his hands in front of himself ( finish ) and finally waved his hands ( goodbye ). These original gestures and pointing peaked at the age of 4 and then subsided and completely disappeared by the age of 7, when he was able to make himself understood to some extent with spoken words. The present case demonstrates an adaptive strategy for communication that might be an inherent competence for human beings., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)

Ideomotor limb apraxia is a classic neurological disorder manifesting as a breakdown in co-ordinated limb control with spatiotemporal deficits. We employed kinematic analyses of simple aiming movements in left hemisphere-damaged patients with and without limb apraxia and a normal control group to examine preprogramming and response implementation deficits in apraxia. Damage to the frontal and parietal lobes was more common in apraxics, but neither frontal nor parietal damage was associated with different arm movement deficits. Limb apraxia was associated with intact preprogramming but impaired response implementation. The response implementation deficits were characterized by spatial but not temporal deficits, consistent with decoupling of spatial and temporal features of movement in limb apraxia. While the apraxics' accuracy was normal when visual feedback was available, it was impaired when visual feedback of either target location or hand position was unavailable. This finding suggests that ideomotor limb apraxia is associated with disruption of the neural representations for the extrapersonal (spatial location) and intrapersonal (hand position) features of movement. The non-apraxic group's normal kinematic performance demonstrates that the deficits demonstrated in the apraxic group are not simply a reflection of left hemisphere damage per se.

OBJECTIVES: The objective of the study reflected image processing defects in patients with dementia. PATIENTS AND METHODS: Patients with memory complaint with Hindi Mental Status Examination (HMSE) score of 20 seen in the last 5 years were evaluated for mirror agnosia and mirror-image agnosia. Visual acuity was checked and corrected. A 45 cm × 45 cm plain mirror was used. It was kept at 30-cm distance from the patient. Their ability to recognize the mirror was confirmed. They were asked to identify reflected objects, ornaments, dress, self-image, image of caregiver, and two each of famous, smiling, crying, and novel faces. RESULTS: A total number of patients with memory complaint were 512 and vascular dementia were 211. Others = 301 patients who had features suggestive of apraxia and agnosias = 69. Among the 69 patients, 65.2% were male and 34.8% female, mean age was 62.5. Disease wise distribution is frontotemporal dementia: 24.64%. Vascular dementia: 21.84%. Alzheimer's disease (AD): 20.29%. Unclassified: 14.49%. Mixed: 14.49%. diffuse Lewy body disease: 2.89%. Cortico basal degeneration syndrome (CBGD): 1.45%. The pattern of reflected image processing abnormality is mirror agnosia: 9 patients. Mirror-image agnosia: 11 patients. CONCLUSIONS: Patients with AD showed wide variety of apraxias and mirror agnosia. Those with mirror-image agnosia did not show apraxias. In both groups, females were dominated. There is a clear delineation of features in patients with mirror agnosia and mirror-image agnosia. Mirror-image and mirror agnosia in degenerative dementias are not reported in the literature. [ABSTRACT FROM AUTHOR]

ABSTRACT Currently, there are no studies reporting how much balance impairment coexists with gait apraxia in mild and moderate Alzheimer’s disease (AD). Objectives To assess correlations among gait apraxia, balance impairment and cognitive performance in mild (AD1, n = 30) and moderate (AD2, n = 30) AD. Method The following evaluations were undertaken: gait apraxia (Assessment Walking Skills); balance performance (Berg Balance Scale); Clinical Dementia Rating and Mini-mental State Examination (MMSE). Results While disregarding AD subgroups, Berg Balance Scale and the MMSE correlated significantly with Assessment Walking Skills and 23% of all subjects scored below its cut-off. After stratification, Berg Balance Scale correlated significantly with Assessment Walking Skills in both AD subgroups, and with the MMSE only in AD1. Conclusions Balance impairment does not necessarily coexist with gait apraxia. Gait apraxia is more prevalent in moderate AD when compared with mild AD.

The performance of right and left hemisphere stroke patients was compared to normal control groups on a task where subjects alternately hit two targets which varied in size from 0.5 to 6.5 cm. The stroke patients used the arm ipsilateral to damage, and the control groups used the same arm as their respective stroke group. Lesion size and location were similar for the two stroke groups. No deficits were found for the right hemisphere stroke group. The left stroke group's tapping speed was not slower at the smallest target, but became progressively slower relative to the control group's as target size increased. Variability in tapping speed increased as target size increased for all except the left stroke group. While the entire left stroke group was as accurate as their controls, the apraxic, but not nonapraxic, patients made more errors on smaller targets only. Two explanations for these findings both emphasize the left hemisphere's special role in motor programming; one focuses upon its dominance for movements which are independent of sensory feedback and the other emphasizes its specialization for processing rapid temporal information.

Sixteen left-hemisphere stroke patients, who were apraxic or nonapraxic, and 17 control subjects performed sequences of hand postures that varied in the number of different postures (repetitive and heterogeneous) and sequence length (one to five). Performance of the left hand (ipsilateral to stroke) was compared with a control group using the left hand. All stroke patients had slower reaction times and were slower to execute single hand postures, but the apraxic group was not slower than the nonapraxic group. Both the apraxic and the nonapraxic groups had similar problems scheduling or timing motor programs for both sequence types such that inter-response times were more affected by sequence length than the control group. However, only the apraxic group showed abnormalities in preprogramming heterogeneous sequences. The apraxic group also made more errors and had longer movement times (MTs) than for the other groups, but only for heterogeneous sequences containing more than three hand postures. The nonapraxic group did not show slower MTs or greater errors, regardless of the type or the length of sequences. These results suggested deficits in encoding, generating single movements and in scheduling or timing a series of actions which generally attributable to left hemisphere damage. However, abnormalities in temporal organization processes prior to and during movement were specific to apraxia. The dissociation between the two stroke groups on some but not all aspects of sequencing has implications for different cognitive mechanisms supporting motor sequencing.

Este estudo propõe relatar o efeito do fortalecimento de relações de leitura e da transferência de controle de estímulos sobre a produção da fala de uma criança com apraxia de fala. Utilizou-se o programa Aprendendo a Ler e a Escrever em Pequenos Passos(r). As atividades foram realizadas em 22 sessões, com duas sessões semanais, de 30 minutos cada. Como resultados houve aumento na porcentagem de acertos na produção da fala do participante frente a diferentes estímulos. Os resultados corroboram os estudos anteriores sobre o favorecimento da fala por meio de relações de equivalência e dados sobre o benefício do trabalho a partir do fortalecimento da rede de leitura e escrita.