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Archives of Iranian Medicine Dec 2019Ataxia-telangiectasia is a multi-system disorder in which neurologic impairment and immune deficiency are observed. In the present study, patients with...
BACKGROUND
Ataxia-telangiectasia is a multi-system disorder in which neurologic impairment and immune deficiency are observed. In the present study, patients with ataxia-telangiectasia were followed to provide information regarding clinical and immunological features.
METHODS
We report a case series of 18 patients diagnosed with ataxia-telangiectasia, who were referred to a tertiary center of clinical immunology from 2008-2018. Clinical presentations, medical records and lab data were observed during this period with a mean follow-up time of 4.57 ± 2.66 years.
RESULTS
The mean age of the patients was 10.92 ± 3.24 years (11 females and 7 males). Thirteen patients (72.22%) were from families with consanguinity. Ataxia was the most common clinical feature, observed in 18 (100%) patients. The predominant clinical presentations were tremor and oculocutaneous telangiectasia, observed in 14 (77.8%) patients; dysarthria and oculomotor apraxia, observed in 13 (72.2%) patients. Infections were recorded in 12 (70.6%) patients. Decreased IgG level and IgA levels were observed in 5 (33.3%) and 6 (40.0%) patients, respectively. Decreased B-cell number and T-cell number were noted in 7 (46.67%) and 11 (73.33%) patients, respectively. Three (16.7%) patients were diagnosed with acute lymphoblastic leukemia and two of them expired subsequently.
CONCLUSION
Ataxia-telangiectasia is a progressive disease with no established therapy; so, it necessitates early diagnosis and follow-up of the patients. The presented clinical and immunological data in this study may help with diagnosis and management of the disease complications.
Topics: Adolescent; Apraxias; Ataxia Telangiectasia; Child; Child, Preschool; Cogan Syndrome; Disease Progression; Female; Humans; Male; Tremor
PubMed: 31823618
DOI: No ID Found -
Cortex; a Journal Devoted To the Study... Jan 2023Buccofacial apraxia (BFA) is associated with nonfluent/agrammatic variant primary progressive aphasia (nfvPPA) as well as with the severity of apraxia of speech (AOS), a...
Buccofacial apraxia (BFA) is associated with nonfluent/agrammatic variant primary progressive aphasia (nfvPPA) as well as with the severity of apraxia of speech (AOS), a core symptom of nfvPPA. However, an association with agrammatism has not been established. The aim of this study was to examine the association between BFA and agrammatism in nfvPPA and to determine differences in atrophic regions in primary progressive aphasia (PPA) with and without BFA. Seventy-four patients with PPA were recruited, including 34, 15, 10, and 15 patients with nfvPPA, semantic variant PPA, logopenic variant PPA, and unclassified PPA, respectively. All patients underwent language examination and BFA evaluations. Voxel-based morphometry (VBM) was performed to determine whether atrophy of a specific lesion correlated with the presence of BFA. BFA was observed in 20 and 3 patients with nfvPPA and unclassified PPA, respectively. In a comparison of patients with nfvPPA with and without BFA, the BFA group showed significantly worse spontaneous speech and writing in the Western Aphasia Battery. The agrammatism ratio or the ratio of agrammatic errors to the total number of particles was higher in the BFA group; however, the severity of prosodic and phonetic components of AOS did not differ between the two groups. VBM showed that the severity of BFA correlated with atrophy of the opercular and triangular areas of the inferior frontal gyrus to a part of the left middle frontal gyrus. BFA has a different anatomical basis from AOS in patients with nfvPPA and that BFA is characterized by more anterior degeneration compared to that of AOS.
Topics: Humans; Aphasia, Broca; Apraxias; Primary Progressive Nonfluent Aphasia; Frontal Lobe; Atrophy; Aphasia, Primary Progressive
PubMed: 36462386
DOI: 10.1016/j.cortex.2022.10.010 -
Brain : a Journal of Neurology May 2024Progressive apraxia of speech (PAOS) is a neurodegenerative motor-speech disorder that most commonly arises from a four-repeat tauopathy. Recent studies have established...
Progressive apraxia of speech (PAOS) is a neurodegenerative motor-speech disorder that most commonly arises from a four-repeat tauopathy. Recent studies have established that progressive apraxia of speech is not a homogenous disease but rather there are distinct subtypes: the phonetic subtype is characterized by distorted sound substitutions, the prosodic subtype by slow and segmented speech and the mixed subtype by a combination of both but lack of predominance of either. There is some evidence that cross-sectional patterns of neurodegeneration differ across subtypes, although it is unknown whether longitudinal patterns of neurodegeneration differ. We examined longitudinal patterns of atrophy on MRI, hypometabolism on 18F-fluorodeoxyglucose-PET and tau uptake on flortaucipir-PET in a large cohort of subjects with PAOS that had been followed for many years. Ninety-one subjects with PAOS (51 phonetic, 40 prosodic) were recruited by the Neurodegenerative Research Group. Of these, 54 (27 phonetic, 27 prosodic) returned for annual follow-up, with up to seven longitudinal visits (total visits analysed = 217). Volumes, metabolism and flortaucipir uptake were measured for subcortical and cortical regions, for all scans. Bayesian hierarchical models were used to model longitudinal change across imaging modalities with PAOS subtypes being compared at baseline, 4 years from baseline, and in terms of rates of change. The phonetic group showed smaller volumes and worse metabolism in Broca's area and the striatum at baseline and after 4 years, and faster rates of change in these regions, compared with the prosodic group. There was also evidence of faster spread of hypometabolism and flortaucipir uptake into the temporal and parietal lobes in the phonetic group. In contrast, the prosodic group showed smaller cerebellar dentate, midbrain, substantia nigra and thalamus volumes at baseline and after 4 years, as well as faster rates of atrophy, than the phonetic group. Greater hypometabolism and flortaucipir uptake were also observed in the cerebellar dentate and substantia nigra in the prosodic group. Mixed findings were observed in the supplementary motor area and precentral cortex, with no clear differences observed across phonetic and prosodic groups. These findings support different patterns of disease spread in PAOS subtypes, with corticostriatal patterns in the phonetic subtype and brainstem and thalamic patterns in the prosodic subtype, providing insight into the pathophysiology and heterogeneity of PAOS.
Topics: Humans; Carbolines; Male; Female; Aged; Apraxias; Positron-Emission Tomography; Middle Aged; Longitudinal Studies; Magnetic Resonance Imaging; Brain; Atrophy; Fluorodeoxyglucose F18; Phonetics; Aged, 80 and over; tau Proteins
PubMed: 38217867
DOI: 10.1093/brain/awae016 -
Journal of Speech, Language, and... Sep 2020Purpose Despite having distinct etiologies, acquired apraxia of speech (AOS) and childhood apraxia of speech (CAS) share the same central diagnostic challenge (i.e.,... (Review)
Review
Purpose Despite having distinct etiologies, acquired apraxia of speech (AOS) and childhood apraxia of speech (CAS) share the same central diagnostic challenge (i.e., isolating markers specific to an impairment in speech motor planning/programming). The purpose of this review was to evaluate and compare the state of the evidence on approaches to differential diagnosis for AOS and CAS and to identify gaps in each literature that could provide directions for future research aimed to improve clinical diagnosis of these disorders. Method We conducted a scoping review of literature published between 1997 and 2019, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews guidelines. For both AOS and CAS, literature was charted and summarized around four main methodological approaches to diagnosis: speech symptoms, quantitative speech measures, impaired linguistic-motor processes, and neuroimaging. Results Results showed that similar methodological approaches have been used to study differential diagnosis of apraxia of speech in adults and children; however, the specific measures that have received the most research attention differ between AOS and CAS. Several promising candidate markers for AOS and CAS have been identified; however, few studies report metrics that can be used to assess their diagnostic accuracy. Conclusions Over the past two decades, there has been a proliferation of research identifying potential diagnostic markers of AOS and CAS. In order to improve clinical diagnosis of AOS and CAS, there is a need for studies testing the diagnostic accuracy of multiple candidate markers, better control over language impairment comorbidity, more inclusion of speech-disordered control groups, and an increased focus on translational work moving toward clinical implementation of promising measures.
Topics: Adult; Apraxias; Child; Diagnosis, Differential; Humans; Speech; Speech Disorders; Speech Production Measurement
PubMed: 32783767
DOI: 10.1044/2020_JSLHR-20-00061 -
Journal Francais D'ophtalmologie Sep 2021
Topics: Apraxias; Cogan Syndrome; Hearing Loss, Sensorineural; Humans
PubMed: 33902936
DOI: 10.1016/j.jfo.2020.11.004 -
Neurologia Oct 2022Currently there is no tool to quantify buccophonatory apraxia to stratify, compare and monitor patients longitudinally in an objective manner. Our aim in this study is...
INTRODUCTION
Currently there is no tool to quantify buccophonatory apraxia to stratify, compare and monitor patients longitudinally in an objective manner. Our aim in this study is to create a quantitative scale for buccophonatory apraxia and evaluate it in patients with the non-fluent/grammatical variant of primary progressive aphasia (nfvPPA) and other neurodegenerative diseases that occur with speech and/or language problems.
METHODS
The scale was designed based on useful elements in the assessment of buccophonatory apraxia and the total was quantified in seconds. The scale was administered to 64 participants with diagnoses of: nfvPPA, semantic variant of primary progressive aphasia (svPPA), logopenic variant of primary progressive aphasia (lvPPA), Huntington's disease, Parkinson's disease, as well as a group of healthy controls.
RESULTS
Patients showed a significantly higher score compared to controls. The nfvPPA group had the highest mean score on the scale (429 seconds ± 278). The scale was useful to differentiate vnfPPA from svPPA and Parkinson's disease (area under curve [AUC] of 0.956 and 0.989, respectively), but less to differentiate it from Huntington's disease (AUC = 0.67) and lvPPA. There was a statistically significant relationship between total score and disease severity in nfvPPA (P < .029).
CONCLUSIONS
The Barcelona scale for buccophonatory apraxia could be useful to quantitatively evaluate buccophonatory apraxia in different neurodegenerative diseases, and compare patients, especially in nfvPPA.
PubMed: 36272532
DOI: 10.1016/j.nrleng.2022.09.006 -
Brain : a Journal of Neurology Apr 2024It is debated whether primary progressive apraxia of speech (PPAOS) and progressive agrammatic aphasia (PAA) belong to the same clinical spectrum, traditionally termed...
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.
Topics: Humans; Aphasia, Broca; Dysarthria; Apraxias; Language; Speech; Aphasia, Primary Progressive; Primary Progressive Nonfluent Aphasia
PubMed: 37988272
DOI: 10.1093/brain/awad396 -
Cortex; a Journal Devoted To the Study... Oct 2020It has now been 100 years since Hugo Liepmann, in his classic 1920 paper described limb kinetic, ideomotor, and ideational apraxia. There are now several rating scales... (Review)
Review
It has now been 100 years since Hugo Liepmann, in his classic 1920 paper described limb kinetic, ideomotor, and ideational apraxia. There are now several rating scales used to assess and grade the signs and symptoms associated with Parkinson's disease; however, none of these assesses patients for the presence of these disabling forms of upper limb apraxia. This paper, reviews the four types of apraxia that can be associated with Parkinson's disease, how they can be tested, the disabilities associated with these disorders and possible treatments.
Topics: Apraxias; Humans; Parkinson Disease; Upper Extremity
PubMed: 32801083
DOI: 10.1016/j.cortex.2020.05.017 -
Brain Communications 2021Pantomime has a long tradition in clinical neuropsychology of apraxia. It has been much more used by researchers and clinicians to assess tool-use disorders than real... (Review)
Review
Pantomime has a long tradition in clinical neuropsychology of apraxia. It has been much more used by researchers and clinicians to assess tool-use disorders than real tool use. Nevertheless, it remains incompletely understood and has given rise to controversies, such as the involvement of the left inferior parietal lobe or the nature of the underlying cognitive processes. The present article offers a comprehensive framework, with the aim of specifying the neural and cognitive bases of pantomime. To do so, we conducted a series of meta-analyses of brain-lesion, neuroimaging and behavioural studies about pantomime and other related tasks (i.e. real tool use, imitation of meaningless postures and semantic knowledge). The first key finding is that the area PF (Area PF complex) within the left inferior parietal lobe is crucially involved in both pantomime and real tool use as well as in the kinematics component of pantomime. The second key finding is the absence of a well-defined neural substrate for the posture component of pantomime (both grip errors and body-part-as-tool responses). The third key finding is the role played by the intraparietal sulcus in both pantomime and imitation of meaningless postures. The fourth key finding is that the left angular gyrus seems to be critical in the production of motor actions directed towards the body. The fifth key finding is that performance on pantomime is strongly correlated with the severity of semantic deficits. Taken together, these findings invite us to offer a neurocognitive model of pantomime, which provides an integrated alternative to the two hypotheses that dominate the field: The gesture-engram hypothesis and the communicative hypothesis. More specifically, this model assumes that technical reasoning (notably the left area PF), the motor-control system (notably the intraparietal sulcus), body structural description (notably the left angular gyrus), semantic knowledge (notably the polar temporal lobes) and potentially theory of mind (notably the middle prefrontal cortex) work in concert to produce pantomime. The original features of this model open new avenues for understanding the neurocognitive bases of pantomime, emphasizing that pantomime is a communicative task that nevertheless originates in specific tool-use (not motor-related) cognitive processes.
. PubMed: 35350708
DOI: 10.1093/braincomms/fcab263 -
Psychiatria Danubina 2023Almost 50% of patients with schizophrenia experience problems in their praxia performance, whereas executive function losses can be seen in patients with bipolar...
BACKGROUND
Almost 50% of patients with schizophrenia experience problems in their praxia performance, whereas executive function losses can be seen in patients with bipolar disorder. Although schizophrenia and bipolar disorder can be categorized as different disorders, in patient groups with similar symptom clusters, we aimed to determine whether there are common or disorder-specific praxia defects and to investigate the relationship between the sociodemographic and clinical features with apraxia.
SUBJECTS AND METHODS
52 Schizophrenia and 77 Bipolar Disorder Type I outpatients in remission for at least 6 months were included in our study. Test of Upper Limb Apraxia (TULIA) and Mayo Clinic Praxia Assessment Test (MCPAT) were used to evaluate praxia performance.
RESULTS
Patients with Schizophrenia performed poorer on the TULIA and MCPAT than patients with Bipolar Disorder Type I. While impairment in personal and social functioning was higher in the apraxic schizophrenia group compared to the non-apraxic group, the mean age of disease onset was lower. Functioning in the Apraxic Bipolar Disorder Type I group was lower than in the group without apraxia; whereas the patient's age, duration of disease and number of hospitalizations were higher.
CONCLUSIONS
Although apraxia, which have an important effect on the functioning and quality of life of the patient by causing impairment in daily activities, are seen at higher rates in patients with schizophrenia, might be also seen in patients with bipolar disorder type I. Decreasing diagnostic confusion and developing appropriate treatment strategies, evaluation of apraxia seems to be clinically important in terms of prognosis of diseases and functioning of patients.
Topics: Humans; Schizophrenia; Bipolar Disorder; Quality of Life; Apraxias; Prognosis; Neuropsychological Tests
PubMed: 37060592
DOI: 10.24869/psyd.2023.47