Automatic Speech Recognition in Primary Progressive Apraxia of Speech.

INTRODUCTION: Transcribing disordered speech can be useful when diagnosing motor speech disorders such as primary progressive apraxia of speech (PPAOS), who have sound additions, deletions, and substitutions, or distortions and/or slow, segmented speech. Since transcribing speech can be a laborious process and requires an experienced listener, using automatic speech recognition (ASR) systems for diagnosis and treatment monitoring is appealing. This study evaluated the efficacy of a readily available ASR system (wav2vec 2.0) in transcribing speech of PPAOS patients to determine if the word error rate (WER) output by the ASR can differentiate between healthy speech and PPAOS and/or among its subtypes, whether WER correlates with AOS severity, and how the ASR's errors compare to those noted in manual transcriptions. METHOD: Forty-five patients with PPAOS and 22 healthy controls were recorded repeating 13 words, 3 times each, which were transcribed manually and using wav2vec 2.0. The WER and phonetic and prosodic speech errors were compared between groups, and ASR results were compared against manual transcriptions. RESULTS: Mean overall WER was 0.88 for patients and 0.33 for controls. WER significantly correlated with AOS severity and accurately distinguished between patients and controls but not between AOS subtypes. The phonetic and prosodic errors from the ASR transcriptions were also unable to distinguish between subtypes, whereas errors calculated from human transcriptions were. There was poor agreement in the number of phonetic and prosodic errors between the ASR and human transcriptions. CONCLUSIONS: This study demonstrates that ASR can be useful in differentiating healthy from disordered speech and evaluating PPAOS severity but does not distinguish PPAOS subtypes. ASR transcriptions showed weak agreement with human transcriptions; thus, ASR may be a useful tool for the transcription of speech in PPAOS, but the research questions posed must be carefully considered within the context of its limitations. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.26359417.

Research Priorities for Childhood Apraxia of Speech: A Long View.

This article introduces the Journal of Speech, Language, and Hearing Research Special Issue: Selected Papers From the 2022 Apraxia Kids Research Symposium. The field of childhood apraxia of speech (CAS) has developed significantly in the past 15 years, with key improvements in understanding of basic biology including genetics, neuroscience, and computational modelling; development of diagnostic tools and methods; diversity of evidence-based interventions with increasingly rigorous experimental designs; and understanding of impacts beyond impairment-level measures. Papers in this special issue not only review and synthesize the some of the substantial progress to date but also present novel findings addressing critical research gaps and adding to the overall body of knowledge. A second aim of this prologue is to report the current research needs in CAS, which arose from symposium discussions involving researchers, clinicians, and Apraxia Kids community members (including parents of children with CAS). Four primary areas of need emerged from discussions at the symposium. These were: (a) What questions should we ask? (b) Who should be in the research? (c) How do we conduct the research? and (d) How do we move from research to practice? Across themes, symposium attendees emphasized the need for CAS research to better account for the diversity of people with CAS and improve the timeliness of implementation of high-level evidence-based practice across the lifespan. It is our goal that the articles and prologue discussion in this special issue provide an appreciation of advancements in CAS research and an updated view of the most pressing needs for future research.

Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.

BACKGROUND: Biallelic SUFU variants have originally been linked to Joubert syndrome, comprising cerebellar abnormalities, dysmorphism, and polydactyly. In contrast, heterozygous truncating variants have recently been associated with developmental delay and ocular motor apraxia, but only a limited number of patients have been reported. Here, we aim to delineate further the mild end of the phenotypic spectrum related to SUFU haploinsufficiency. METHODS: Nine individuals (from three unrelated families) harboring truncating SUFU variants were investigated, including two previously reported individuals (from one family). We provide results from a comprehensive assessment comprising neuroimaging, neuropsychology, video-oculography, and genetic testing. RESULTS: We identified three inherited or de novo truncating variants in SUFU (NM_016169.4): c.895C>T p.(Arg299∗), c.71dup p.(Ala25Glyfs∗23), and c.71del p.(Pro24Argfs∗72). The phenotypic expression showed high variability both between and within families. Clinical features include motor developmental delay (seven of nine), axial hypotonia (five of nine), ocular motor apraxia (three of nine), and cerebellar signs (three of nine). Four of the six reported children had macrocephaly. Neuropsychological and developmental assessments revealed mildly delayed language development in the youngest children, whereas general cognition was normal in all variant carriers. Subtle but characteristic SUFU-related neuroimaging abnormalities (including superior cerebellar dysplasia, abnormalities of the superior cerebellar peduncles, rostrally displaced fastigium, and vermis hypoplasia) were observed in seven of nine individuals. CONCLUSIONS: Our data shed further light on the mild but recognizable features of SUFU haploinsufficiency and underline its marked phenotypic variability, even within families. Notably, neurodevelopmental and behavioral abnormalities are mild compared with Joubert syndrome and seem to be well compensated over time.

A systematic scoping review of the literacy skills of children with childhood apraxia of speech: Recommendations for best practice and further research.

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.

Clinicopathologic and Neuroimaging Correlations of Nonverbal Oral Apraxia in Patients With Neurodegenerative Disease.

BACKGROUND AND OBJECTIVES: Nonverbal oral apraxia (NVOA) is the inability to plan, sequence, and execute voluntary oromotor movements in the absence of weakness. In the context of neurodegenerative disease, it remains unclear whether it is linked to a specific underlying pathologic, clinical, or neuroimaging finding. Thus, we aimed to assess the clinicopathologic and neuroimaging associations of NVOA. METHODS: We conducted a retrospective study of autopsy-confirmed patients previously assessed through an NVOA evaluation tool with a previously published cutpoint to screen for NVOA. We compared demographic and clinical characteristics and postmortem pathology between those who developed NVOA and those who did not. We also compared clinicopathologic characteristics in mild vs greater than mild NVOA and early vs late-emerging NVOA. SPM12 was used to assess patterns of gray matter loss in NVOA vs non-NVOA with age and sex included as covariates. RESULTS: A total of 104 patients (median age at symptom onset 63 years, 43% female) were included in the study. 63 (60.6%) developed NVOA. NVOA appeared at a median of 4.3 years from symptom onset. 29% developed NVOA within the first 3 years. Primary progressive apraxia of speech and the nonfluent variant of primary progressive aphasia were the most common baseline diagnoses in the NVOA group while progressive supranuclear palsy (PSP) syndrome and logopenic progressive aphasia (LPA) were the most common in patients without NVOA. Atrophy of the left lateral and medial posterior frontal cortex was related to NVOA. The most common pathologies associated with NVOA were PSP (36.5%) and corticobasal degeneration (CBD) (33.3%). In patients without NVOA, PSP (26.8%) and other pathologies (26.8%) were the most frequent. 11% of patients with NVOA had persistently mild NVOA and were more likely to have baseline diagnoses of LPA, PSP syndrome, or semantic dementia. The most frequent pathologies in this group were Alzheimer disease and PSP. The pathologic associations of greater than mild NVOA were CBD and PSP. DISCUSSION: NVOA is present in several clinical syndromes. It is most associated with PSP and CBD. NVOA is a manifestation of left lateral and medial posterior frontal cortex damage rather than a particular pathology.

Incidence of Primary Progressive Apraxia of Speech and Primary Progressive Aphasia in Olmsted County, MN, 2011-2022.

BACKGROUND AND OBJECTIVE: No epidemiologic studies have formally assessed the incidence of primary progressive aphasia (PPA) and primary progressive apraxia of speech (PPAOS). Thus, we decided to assess the incidence of these disorders in Olmsted County, MN, between 2011 and 2022, and to characterize clinical, radiographic, and pathologic characteristics of these patients. METHODS: This was a retrospective examination of data from a population-based cohort of patients with PPA and PPAOS prospectively identified in Olmsted County, MN, from 2011 to 2022. The incidence of PPA among adults (older than 18 years) was calculated for Olmsted County as the number of patients per 100,000 person-years during the study period. The adult population of Olmsted County was determined by the annual catchment population reported by the Rochester Epidemiological Project for each year 2011-2022. A behavioral neurologist verified the clinical diagnoses and determined subtypes. RESULTS: We identified 10 patients (60% female) within the study period (median age of symptoms onset: 70 years; range: 66-73), 8 with PPA and 2 with PPAOS. Of the 8 patients with PPA (6 female patients, 2 male patients), 2 met criteria for non-fluent variant PPA (nfvPPA), 3 for logopenic variant PPA (lvPPA), and 3 for semantic variant (svPPA). Speech evaluation confirmed the clinical diagnoses in all patients and all showed typical imaging findings consistent with their respective subtype. Six patients (2 PPAOS, 2 nfvPPA, 2 lvPPA) died and 3 underwent autopsy (2 PPAOS, 1 nfvPPA), confirming the pathologic diagnosis of progressive supranuclear palsy. The incidence of PPA + PPAOS was 0.70 persons per 100,000 person-years (95% CI 0.34-1.29 persons per 100,000) during the study period. The incidence of PPAOS was 0.14 persons per 100,000 person-years (95% CI 0.02-0.55 persons per 100,000), whereas for the 8 patients with PPA, the incidence was 0.56 persons per 100,000 person-years (95% CI 0.24-1.10 cases per 100,000). The incidence of nfvPPA was 0.14 persons per 100,000 person-years (95% CI 0.02-0.55), 0.21 persons per 100,000 person-years (95% CI 0.04-0.61) for lvPPA, and 0.21 persons per 100,000 person-years (95% CI 0.04-0.61) for svPPA. DISCUSSION: As a group, PPA and PPAOS are a relatively rare group of diseases. PPAOS has a slightly lower incidence than PPA as a group but similar incidence to the individual PPA variants.

Progressive verbal apraxia of reading.

We identified a syndrome characterized by a relatively isolated progressive impairment of reading words that the patient was able to understand and repeat but without other components of speech apraxia. This cluster of symptoms fits a new syndrome designated Progressive Verbal Apraxia of Reading. A right-handed man (AB) came with a 2.5-year history of increasing difficulties in reading aloud. He was evaluated twice, 2 years apart, using multimodal neuroimaging techniques and quantitative neurolinguistic assessment. In the laboratory, reading difficulties arose in the context of intact visual and auditory word recognition as well as intact ability to understand and repeat words he was unable to read aloud. The unique feature was the absence of dysarthria or speech apraxia in tasks other than reading. Initial imaging did not reveal statistically significant atrophy. Structural magnetic resonance and FDG-PET imaging at the second assessment revealed atrophy and hypometabolism in the right posterior cerebellum, in areas shown to be part of his language network by task-based functional neuroimaging at initial assessment. This syndromic cluster can be designated Progressive Verbal Apraxia of Reading, an entity that has not been reported previously to the best of our knowledge. We hypothesize a selective disconnection of the visual word recognition system from the otherwise intact articulatory apparatus, a disconnection that appears to reflect the disruption of multisynaptic cerebello-cortical circuits.

Multimodal cross-examination of progressive apraxia of speech by diffusion tensor imaging-based tractography and Tau-PET scans.

Progressive apraxia of speech (PAOS) is a 4R tauopathy characterized by difficulties with motor speech planning. Neurodegeneration in PAOS targets the premotor cortex, particularly the supplementary motor area (SMA), with degeneration of white matter (WM) tracts connecting premotor and motor cortices and Broca's area observed on diffusion tensor imaging (DTI). We aimed to assess flortaucipir uptake across speech-language-related WM tracts identified using DTI tractography in PAOS. Twenty-two patients with PAOS and 26 matched healthy controls were recruited by the Neurodegenerative Research Group (NRG) and underwent MRI and flortaucipir-PET. The patient population included patients with primary progressive apraxia of speech (PPAOS) and non-fluent variant/agrammatic primary progressive aphasia (agPPA). Flortaucipir PET scans and DTI were coregistered using rigid registration with a mutual information cost function in subject space. Alignments between DTI and flortaucipir PET were inspected in all cases. Whole-brain tractography was calculated using deterministic algorithms by a tractography reconstruction tool (DSI-studio) and specific tracts were identified using an automatic fiber tracking atlas-based method. Fractional anisotropy (FA) and flortaucipir standardized uptake value ratios (SUVRs) were averaged across the frontal aslant tract, arcuate fasciculi, inferior frontal-occipital fasciculus, inferior and middle longitudinal fasciculi, as well as the SMA commissural fibers. Reduced FA (p < .0001) and elevated flortaucipir SUVR (p = .0012) were observed in PAOS cases compared to controls across all combined WM tracts. For flortaucipir SUVR, the greatest differentiation of PAOS from controls was achieved with the SMA commissural fibers (area under the receiver operator characteristic curve [AUROC] = 0.83), followed by the left arcuate fasciculus (AUROC = 0.75) and left frontal aslant tract (AUROC = 0.71). Our findings demonstrate that flortaucipir uptake is increased across WM tracts related to speech/language difficulties in PAOS.

The yes-no reversal phenomenon in patients with primary progressive apraxia of speech.

Patients who have a yes-no reversal respond "yes" when they mean no and vice versa. The unintentional response can be made both verbally and with gestures (e.g., head shake or nod, thumbs up or down). Preliminary reports associate this phenomenon with 4-repeat tauopathies including primary progressive apraxia of speech (PPAOS), nonfluent/agrammatic primary progressive aphasia, and corticobasal syndrome; however, the significance and timing of this symptom relative to others are not well understood. Whereas some accounts associate yes-no reversals with other binary reversals (e.g., up/down, hot/cold) and attribute the reversals to disturbances of selection within the language system, others implicate more general inhibitory control processes. Here, we compared clinical and neuroimaging findings across 30 patients with PPAOS (apraxia of speech in the absence of aphasia), 15 of whom had a yes-no reversal complaint and 15 who did not. The two groups did not differ on any of the language or motor speech measures; however, patients who had the yes-no reversal received lower scores on the Frontal Assessment Battery and motor assessments. They also had greater hypometabolism in the left supplementary motor area and bilateral caudate nuclei on [18F]-fluorodeoxyglucose PET, but only the right caudate nucleus cluster survived correction for multiple comparisons. We interpret these results to suggest that the yes-no reversal phenomenon is associated with cognitive abilities that are supported by the frontostriatal network; more specifically, impaired response inhibition.

A Goal-Writing Framework for Motor-Based Intervention for Childhood Apraxia of Speech.

PURPOSE: There are multiple frameworks for goal writing that are applicable to the practice of speech-language pathology. Motor-based speech disorders are a subset of speech sound disorders that are thought to require specific elements of intervention that are typically not addressed in the traditional frameworks used in the clinical setting. The purpose of this tutorial is to review general approaches of goal writing and suggest additional elements that may be used to improve the efficiency and effectiveness of treatment for childhood motor speech disorders, specifically childhood apraxia of speech (CAS). METHOD: Existing models of goal writing were reviewed to ascertain elements common to most of these models. A basic framework was chosen and modified to include behaviors, conditions, and approaches to goal measurement tailored to the clinical needs of children with CAS. A resource for clinical decision making for children with CAS was developed to inform goal writing at the onset of treatment and adaptations that occur over the course of treatment. Case studies are presented to demonstrate how the presented framework can be applied to writing goals for motor-based treatment for two different children with CAS. DISCUSSION: Children with CAS require a specialized approach to intervention, which requires goals to reflect the unique clinical needs of this population. This tutorial offers resources that use the best available research evidence and current understanding of effective treatment practices for CAS to guide clinical decision making for motor-based intervention and goal writing. This tutorial is intended to guide treatment planning across varied settings to facilitate progress and optimize treatment outcomes for children with CAS.

The neural correlates of limb apraxia: An anatomical likelihood estimation meta-analysis of lesion-symptom mapping studies in brain-damaged patients.

Limb apraxia is a motor disorder frequently observed following a stroke. Apraxic deficits are classically assessed with four tasks: tool use, pantomime of tool use, imitation, and gesture understanding. These tasks are supported by several cognitive processes represented in a left-lateralized brain network including inferior frontal gyrus, inferior parietal lobe (IPL), and lateral occipito-temporal cortex (LOTC). For the past twenty years, voxel-wise lesion symptom mapping (VLSM) studies have been used to unravel the neural correlates associated with apraxia, but none of them has proposed a comprehensive view of the topic. In the present work, we proposed to fill this gap by performing a systematic Anatomic Likelihood Estimation meta-analysis of VLSM studies which included tasks traditionally used to assess apraxia. We found that the IPL was crucial for all the tasks. Moreover, lesions within the LOTC were more associated with imitation deficits than tool use or pantomime, confirming its important role in higher visual processing. Our results questioned traditional neurocognitive models on apraxia and may have important clinical implications.

Differential spectral characteristics of the Spanish fricative /s/ in the articulation of individuals with dysarthria and apraxia of speech.

PURPOSE: This study examines whether there are differences in the speech of speakers with dysarthria, speakers with apraxia and healthy speakers in spectral acoustic measures during production of the central-peninsular Spanish alveolar sibilant fricative /s/. METHOD: To this end, production of the sibilant was analyzed in 20 subjects with dysarthria, 8 with apraxia of speech and 28 healthy speakers. Participants produced 12 sV(C) words. The variables compared across groups were the fricative's spectral amplitude difference (AmpD) and spectral moments in the temporal midpoint of fricative execution. RESULTS: The results indicate that individuals with dysarthria can be distinguished from healthy speakers in terms of the spectral characteristics AmpD, standard deviation (SD), center of gravity (CoG) and skewness, the last two in context with unrounded vowel, while no differences in kurtosis were detected. Participants with AoS group differ significantly from healthy speaker group in AmpD, SD and CoG and Kurtosis, the first one followed unrounded vowel and the latter two followed by rounded vowels. In addition, speakers with apraxia of speech group returned significant differences with respect to speakers with dysarthria group in AmpD, CoG and skewness. CONCLUSIONS: The differences found between the groups in the measures studied as a function of the type of vowel context could provide insights into the distinctive manifestations of motor speech disorders, contributing to the differential diagnosis between apraxia and dysarthria in motor control processes.

Treatment for Childhood Apraxia of Speech: Past, Present, and Future.

PURPOSE: The purposes of this review article were to provide an introduction to and "bird's-eye" overview of the current evidence base for treatment of childhood apraxia of speech (CAS), identify some gaps and trends in this rapidly growing literature, and formulate some future research directions, in order to advance the evidence base and clinical practice for children with CAS. METHOD: Following a brief introduction outlining important concepts, a narrative review of the CAS treatment literature is provided, and trends and future directions are identified based on this review. The review is organized around four fundamental treatment research questions: (a) "Does Treatment X work?", (b) "Does Treatment X work better than Treatment Y?", (c) "For whom does Treatment X work?", and (d) "What does 'work' mean, anyway?" RESULTS: A wide range of CAS treatments with varying degrees of evidence for efficacy exists. Research is beginning to emerge that compares different treatments and seeks to determine optimal treatment parameters. Few studies to date have explored child-level predictors of treatment response, and the evidence base currently is limited in scope with respect to populations and outcomes studied. CONCLUSIONS: A growing evidence base supports the efficacy of a number of treatments for CAS. However, many important gaps in the literature were identified that warrant redoubled and sustained research attention. Research is beginning to emerge that addresses treatment optimization, comparison, candidacy, and outcomes. Suggestions for future research are offered, and the concept of a hypothesized pathway was applied to CAS to illustrate how components of an intervention can effect change in a clinical goal and can help guide development and refinement of treatments for children with CAS.

Acoustic Analyses of Tone Productions in Sequencing Contexts Among Cantonese-Speaking Preschool Children With and Without Childhood Apraxia of Speech.

PURPOSE: Pitch variations (tone productions) have been reported as a measure to differentiate Cantonese-speaking children with and without childhood apraxia of speech (CAS). This study aims to examine fundamental frequency (F0) changes within syllables and the effects of syllable structure, lexical status, and syllable positions on F0 in Cantonese-speaking preschool children with and without CAS. METHOD: Six children with CAS, six children with non-CAS speech sound disorder plus language disorder (S&LD), 22 children with speech sound disorder only (SSD), and 63 children with typical speech-language development (TD) performed the tone sequencing task (TST). Growth curve analysis was employed to analyze and compare the F0 values within syllables with three Cantonese tones (high level, high rising, and low falling). The analysis considered the effects of syllable structure (vowel and consonant-vowel), lexical status (word and nonword), and syllable position (initial, medial, and final) on F0, as well as comparisons within and between groups. RESULTS: Within each group, the effects of syllable structure and position on F0 values were found with different patterns. Between-group comparisons showed that the CAS group had reduced F0 contrasts. The CAS group could be differentiated from the control groups based on interactions of F0 with syllable structure and position, but not lexical status. The dissimilarity of F0 values detected between the CAS and SSD/TD groups was more prominent than that observed between the CAS and S&LD groups. CONCLUSIONS: This study demonstrated that Cantonese-speaking children with CAS had difficulty in varying F0 within syllables as compared to those without CAS, suggesting pitch variation difficulty and language-specific impairment profiles in CAS. Future investigations of objective measures for identifying Cantonese speakers with CAS and cross-linguistic investigations using growth curve analysis and the TST are suggested.

Progression to corticobasal syndrome: a longitudinal study of patients with nonfluent primary progressive aphasia and primary progressive apraxia of speech.

BACKGROUND AND OBJECTIVES: Nonfluent variant primary progressive aphasia (nfvPPA) and primary progressive apraxia of speech (PPAOS) can be precursors to corticobasal syndrome (CBS). Details on their progression remain unclear. We aimed to examine the clinical and neuroimaging evolution of nfvPPA and PPAOS into CBS. METHODS: We conducted a retrospective longitudinal study in 140 nfvPPA or PPAOS patients and applied the consensus criteria for possible and probable CBS for every visit, evaluating limb rigidity, akinesia, limb dystonia, myoclonus, ideomotor apraxia, alien limb phenomenon, and nonverbal oral apraxia (NVOA). Given the association of NVOA with AOS, we also modified the CBS criteria by excluding NVOA and assigned every patient to either a progressors or non-progressors group. We evaluated the frequency of every CBS feature by year from disease onset, and assessed gray and white matter volume loss using SPM12. RESULTS: Asymmetric akinesia, NVOA, and limb apraxia were the most common CBS features that developed; while limb dystonia, myoclonus, and alien limb were rare. Eighty-two patients progressed to possible CBS; only four to probable CBS. nfvPPA and PPAOS had a similar proportion of progressors, although nfvPPA progressed to CBS earlier (p-value = 0.046), driven by an early appearance of limb apraxia (p-value = 0.0041). The non-progressors and progressors both showed premotor/motor cortex involvement at baseline, with spread into prefrontal cortex over time. DISCUSSION: An important proportion of patients with nfvPPA and PPAOS progress to possible CBS, while they rarely develop features of probable CBS even after long follow-up.

Localizing apraxia in corticobasal syndrome: a morphometric MRI study.

Apraxia localization has relied on voxel-based, lesion-symptom mapping studies in left hemisphere stroke patients. Studies on the neural substrates of different manifestations of apraxia in neurodegenerative disorders are scarce. The primary aim of this study was to look into the neural substrates of different manifestations of apraxia in a cohort of corticobasal syndrome patients (CBS) by use of cortical thickness. Twenty-six CBS patients were included in this cross-sectional study. The Goldenberg apraxia test (GAT) was applied. 3D-T1-weighted images were analyzed via the automated recon-all Freesurfer version 6.0 pipeline. Vertex-based multivariate General Linear Model analysis was applied to correlate GAT scores with cortical thickness. Deficits in imitation of meaningless gestures correlated with bilateral superior parietal atrophy, extending to the angular and supramarginal gyri, particularly on the left. Finger imitation relied predominantly on superior parietal lobes, whereas the left angular and supramarginal gyri, in addition to superior parietal lobes, were critical for hand imitation. The widespread bilateral clusters of atrophy in CBS related to apraxia indicate different pathophysiological mechanisms mediating praxis in neurodegenerative disorders compared to vascular lesions, with implications both for our understanding of praxis and for the rehabilitation approaches of patients with apraxia.

The Effects of Yoga Breathing Before Motor Speech Practice in Acquired Apraxia of Speech: An n-of-1 Trial.

A previous study discovered that two speakers with moderate apraxia of speech increased their sequential motion rates after unilateral forced-nostril breathing (UFNB) practiced as an adjunct to speech-language therapy in an AB repeated-measures design. The current study sought to: (1) delineate possible UFNB plus practice effects from practice effects alone in motor speech skills; (2) examine the relationships between UFNB integrity, participant-reported stress levels, and motor speech performance; and (3) sample a participant-led UFNB training schedule to contribute to the literature's growing understanding of UFNB dosage. A single-subject (n-of-1 trial), ABAB reversal design was used across four motor speech behaviors. A 60-year-old female with chronic, severe apraxia of speech participated. The researchers developed a breathing app to assess UFNB practice integrity and administer the Simple Aphasia Stress Scale after each UFNB session. The participant improved from overall severe to moderate apraxia of speech on the Apraxia Battery for Adults. Visual inspection of graphs confirmed robust motor speech practice effects for all variables. Articulatory-kinematic variables demonstrated sensitivity to the UFNB-plus-practice condition and correlated to stress scale scores but not UFNB integrity scores. The participant achieved 20-minute UFNB sessions 4 times per week. Removal of UFNB during A2 (UFNB withdrawal) and after a 10-day break during B2 (UFNB full dosage) revealed UFNB practice effects on stress scale scores. UFNB with motor speech practice may benefit articulatory-kinematic skills compared to motor speech practice alone. Regular, cumulative UFNB practice appeared to lower self-perceived stress levels. These findings, along with prior work, provide a foundation to further explore yoga breathing and its use with speakers who have apraxia of speech.

Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report.

We describe here a 73-year-old patient presenting with atypical MSA-P-like phenotype carrying a monoallelic p. W279X mutation in the APTX gene, which causes ataxia with oculomotor apraxia type 1 (AOA1) when in homozygous state. We hypothesize that rare monoallelic APTX variants could modulate MSA risk and phenotype.