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Children (Basel, Switzerland) Apr 2024CACNA1C gene encodes the alpha 1 subunit of the CaV1.2 L-type Ca2+ channel. Pathogenic variants in this gene have been associated with cardiac rhythm disorders such as... (Review)
Review
CACNA1C gene encodes the alpha 1 subunit of the CaV1.2 L-type Ca2+ channel. Pathogenic variants in this gene have been associated with cardiac rhythm disorders such as long QT syndrome, Brugada syndrome and Timothy syndrome. Recent evidence has suggested the possible association between CACNA1C mutations and neurologically-isolated (in absence of cardiac involvement) phenotypes in children, giving birth to a wider spectrum of CACNA1C-related clinical presentations. However, to date, little is known about the variety of both neurological and non-neurological signs/symptoms in the neurologically-predominant phenotypes. We conducted a systematic review of neurologically-predominant presentations without cardiac conduction defects, associated with CACNA1C mutations. We also reported a novel de novo missense pathogenic variant in the CACNA1C gene of a children patient presenting with constructional, dressing and oro-buccal apraxia associated with behavioral abnormalities, mild intellectual disability, dental anomalies, gingival hyperplasia and mild musculoskeletal defects, without cardiac conduction defects. The present study highlights the importance of considering the investigation of the CACNA1C gene in children's neurological isolated syndromes, and expands the phenotype of the CACNA1C related conditions. In addition, the present study highlights that, even in absence of cardiac conduction defects, nuanced clinical manifestations of the Timothy syndrome (e.g., dental and gingival defects) could be found. These findings suggest the high variable expressivity of the CACNA1C gene and remark that the absence of cardiac involvement should not mislead the diagnosis of a CACNA1C related disorder.
PubMed: 38790536
DOI: 10.3390/children11050541 -
Neuropsychology Review Mar 2024Researchers and clinicians have long used meaningful intransitive (i.e., not tool-related; MFI) gestures to assess apraxia-a complex and frequent motor-cognitive... (Review)
Review
Researchers and clinicians have long used meaningful intransitive (i.e., not tool-related; MFI) gestures to assess apraxia-a complex and frequent motor-cognitive disorder. Nevertheless, the neurocognitive bases of these gestures remain incompletely understood. Models of apraxia have assumed that meaningful intransitive gestures depend on either long-term memory (i.e., semantic memory and action lexicons) stored in the left hemisphere, or social cognition and the right hemisphere. This meta-analysis of 42 studies reports the performance of 2659 patients with either left or right hemisphere damage in tests of meaningful intransitive gestures, as compared to other gestures (i.e., MFT or meaningful transitive and MLI or meaningless intransitive) and cognitive tests. The key findings are as follows: (1) deficits of meaningful intransitive gestures are more frequent and severe after left than right hemisphere lesions, but they have been reported in both groups; (2) we found a transitivity effect in patients with lesions of the left hemisphere (i.e., meaningful transitive gestures more difficult than meaningful intransitive gestures) but a "reverse" transitivity effect in patients with lesions of the right hemisphere (i.e., meaningful transitive gestures easier than meaningful intransitive gestures); (3) there is a strong association between meaningful intransitive and transitive (but not meaningless) gestures; (4) isolated deficits of meaningful intransitive gestures are more frequent in cases with right than left hemisphere lesions; (5) these deficits may occur in the absence of language and semantic memory impairments; (6) meaningful intransitive gesture performance seems to vary according to the emotional content of gestures (i.e., body-centered gestures and emotional valence-intensity). These findings are partially consistent with the social cognition hypothesis. Methodological recommendations are given for future studies.
PubMed: 38448754
DOI: 10.1007/s11065-024-09634-6 -
Neuropsychology Review Oct 2023Primary progressive aphasia (PPA) and primary progressive apraxia of speech (PPAOS) are neurodegenerative syndromes characterized by progressive decline in language or... (Review)
Review
Primary progressive aphasia (PPA) and primary progressive apraxia of speech (PPAOS) are neurodegenerative syndromes characterized by progressive decline in language or speech. There is a growing number of studies investigating speech-language interventions for PPA/PPAOS. An updated systematic evaluation of the treatment evidence is warranted to inform best clinical practice and guide future treatment research. We systematically reviewed the evidence for behavioral treatment for speech and language in this population. Reviewed articles were published in peer-reviewed journals through 31 May 2021. We evaluated level of evidence, reporting quality, and risk of bias using a modified version of the American Speech-Language Hearing Association (ASHA) Levels of Evidence, an appraisal point system, additional reporting quality and internal/external validity items, and, as appropriate, the Single Case Experimental Design Scale or the Physiotherapy Evidence Database - PsycBITE Rating Scale for Randomized and Non-Randomized Controlled Trials. Results were synthesized using quantitative summaries and narrative review. A total of 103 studies reported treatment outcomes for 626 individuals with PPA; no studies used the diagnostic label PPAOS. Most studies evaluated interventions for word retrieval. The highest-quality evidence was provided by 45 experimental and quasi-experimental studies (16 controlled group studies, 29 single-subject designs). All (k = 45/45) reported improvement on a primary outcome measure; most reported generalization (k = 34/43), maintenance (k = 34/39), or social validity (k = 17/19) of treatment for at least one participant. The available evidence supports speech-language intervention for persons with PPA; however, treatment for PPAOS awaits systematic investigation. Implications and limitations of the evidence and the review are discussed.
PubMed: 37792075
DOI: 10.1007/s11065-023-09607-1 -
Multimedia Tools and Applications Mar 2023Speech is a powerful, natural mode of communication that facilitates effective interactions in human societies. However, when fluency or flow of speech is affected or...
Speech is a powerful, natural mode of communication that facilitates effective interactions in human societies. However, when fluency or flow of speech is affected or interrupted, it leads to speech impairment. There are several types of speech impairment depending on the speech pattern and range from mild to severe. Childhood apraxia of speech (CAS) is the most common speech disorder in children, with 1 out of 12 children diagnosed globally. Significant advancements in speech assessment tools have been reported to assist speech-language pathologists diagnosis speech impairment. In recent years, speech assessment tools have also gained popularity among pediatricians and teachers who work with preschoolers. Automatic speech tools can be more accurate for detecting speech sound disorders (SSD) than human-based speech assessment methods. This systematic literature review covers 88 studies, including more than 500 children, infants, toddlers, and a few adolescents, (both male and female) (age = 0-17) representing speech impairment from more than 10 countries. It discusses the state-of-the-art speech assessment methods, including tools, techniques, and protocols for speech-impaired children. Additionally, this review summarizes notable outcomes in detecting speech impairments using said assessment methods and discusses various limitations such as universality, reliability, and validity. Finally, we consider the challenges and future directions for speech impairment assessment tool research.
PubMed: 37362682
DOI: 10.1007/s11042-023-14913-0 -
Journal of Clinical and Experimental... Feb 2023To 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... (Review)
Review
INTRODUCTION
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.
METHOD
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.
RESULTS
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.
CONCLUSIONS
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.
Topics: Humans; Alzheimer Disease; Activities of Daily Living; Neuropsychological Tests; Apraxias; Frontotemporal Dementia
PubMed: 37039061
DOI: 10.1080/13803395.2023.2199971 -
American Journal of Speech-language... May 2023This systematic review aims to summarize and evaluate the available literature on speech and language therapy interventions for acquired apraxia of speech since 2012.
PURPOSE
This systematic review aims to summarize and evaluate the available literature on speech and language therapy interventions for acquired apraxia of speech since 2012.
METHOD
A systematic search in six electronic databases was performed from 2013 to 2020. The following primary outcomes were summarized: (a) improvement in targeted behaviors, (b) generalization, and (c) maintenance of outcomes. Moreover, studies were evaluated for the level of evidence and the clinical phase.
RESULTS
Of the 3,070 records identified, 27 studies were included in this review. The majority of the studies ( = 22) used articulatory kinematic approaches followed by intersystemic facilitation/reorganization treatments ( = 4) and other approaches ( = 1). According to the classes defined in (Gronseth et al., 2017), one was Class II, 10 were Class III, 10 were Class III-b (fulfill Class III criteria except for independence of assessors' criterion), and five were Class IV. In terms of clinical phase, one study classified as Phase III, 10 as Phase II, and 15 as Phase I.
CONCLUSIONS
Among the interventions for apraxia of speech, articulatory kinematic treatments have become prominent over the last 8 years. Focusing on self-administrated therapies, use of technology for therapy administration and development of treatments that focus on apraxia of speech and aphasia simultaneously were identified as new advancements in the apraxia of speech literature. The methodological quality, clinical phase, and level of evidence of the studies have improved within the past 8 years. Large-scale randomized controlled trials for articulatory kinematic approaches and future studies on other treatment approaches are warranted.
SUPPLEMENTAL MATERIAL
https://doi.org/10.23641/asha.22223785.
Topics: Humans; Speech Therapy; Speech; Apraxias; Aphasia; Speech Production Measurement
PubMed: 36917788
DOI: 10.1044/2022_AJSLP-21-00236 -
Journal of Communication Disorders 2023Prosody serves central functions in language processing including linguistic functions (linguistic prosody), like structuring the speech signal. Impairments in... (Review)
Review
A systematic review on production and comprehension of linguistic prosody in people with acquired language and communication disorders resulting from unilateral brain lesions.
BACKGROUND
Prosody serves central functions in language processing including linguistic functions (linguistic prosody), like structuring the speech signal. Impairments in production and comprehension of linguistic prosody have been described for persons with unilateral right (RHDP) or left hemisphere damage (LHDP). However, reported results differ with respect to the characteristics and severities of these impairments AIMS: We conducted a systematic literature review focusing on production and comprehension of linguistic prosody at the prosody-syntax interface (i.e., phrase or sentence level) in LHDP and RHDP.
METHODS & PROCEDURES
In a systematic literature search we included: (i) empirical studies with (ii) adult RHDP and/or LHDP (iii) investigating production and/or comprehension of linguistic prosody at the (iv) phrase or sentence level (v) reporting quantitative data on prosodic measures. We excluded overview papers; studies involving participants with dysarthria, apraxia of speech, foreign accent syndrome, psychiatric diseases, and/or neurodegenerative diseases; studies focusing primarily on emotional prosody; and on lexical stress / word level; studies of which no full text was available and/or that were published in a language other than English. We searched the databases BIOSIS, MEDLINE, EMBASE, PubMed, Web of Science, CINAHL, Cochrane Library, PSYNDEX, PsycINFO and speechBITE, last searched on January 13 2022.We found 2,631 studies without duplicates. We identified 43 studies which were included into our systematic review. For data extraction and synthesis of results, we grouped studies by (i) modality (production vs. comprehension), (ii) function (syntactic structure vs. information structure), and (iii) by experiment task. For production studies, outcome measures were defined as the productive use of the different prosodic cues (lengthening, pause, f0, amplitude). For comprehension studies, performance measures (accuracy and reaction times) were defined as outcome measures. In accordance with the PRISMA 2020 statement (Page et al., 2021), we conducted a quality check to assess study risk of bias. Our review was pre-registered with PROSPERO (CRD42019120308).
OUTCOMES & RESULTS
Of the 43 studies reviewed, 30 studies involved RHDP (n = 309), assessing production in 15 studies and focusing on comprehension of prosody in 16 studies (one study investigated production and comprehension). LHDP (n = 438) were included in 35 studies of which 15 studied production and 21 evaluated comprehension of prosody (one study investigated production and comprehension). Despite the heterogeneity of results in the studies reviewed, our synthesis of results suggests that both LHDP and RHDP show limitations, but no complete impairment, in their production and/or comprehension of linguistic prosody. Prosodic limitations are evident in different areas of processing linguistic prosody, like syntactic disambiguation or the distinction between sentence types. There is a tendency towards more severe limitations in LHDP as compared to RHDP.
CONCLUSIONS
We only included published studies into our review and did not perform an assessment of risk of reporting bias as well as systematic certainty assessments of the outcomes. Despite these limitations, we conclude that both groups show deficits in production and comprehension of linguistic prosody, but neither LHDP nor RHDP are completely impaired in their prosodic processing. This suggests that prosody is a relevant communicative resource for LHDP and RHDP worth being addressed in speech-language-therapy.
Topics: Adult; Humans; Comprehension; Language; Linguistics; Communication Disorders; Brain; Speech Perception
PubMed: 36623377
DOI: 10.1016/j.jcomdis.2022.106298 -
Dementia & Neuropsychologia 2022Dysphagia is described as a highly relevant comorbidity of Alzheimer's disease (AD). However, there is a scarcity of studies aiming at the characteristics and...
UNLABELLED
Dysphagia is described as a highly relevant comorbidity of Alzheimer's disease (AD). However, there is a scarcity of studies aiming at the characteristics and progression of dysphagia.
OBJECTIVE
The objective of this study was to identify the specific characteristics, progression, and prevalence of dysphagia in AD.
METHODS
Publications were searched in the PubMed (MEDLINE), EBSCO, ScienceDirect, and BASE databases. Critical appraisal and evidence-level analysis were conducted using the Joanna Briggs Institute and Effective Public Health Practice Project's (EPHPP) tools.
RESULTS
A total of 26 studies were reviewed. Symptoms begin in the early stage of AD, as oral phase impairments, and progress to pharyngeal symptoms and swallowing apraxia in the later stages of AD. Dysphagia progresses, as AD, along a , with severity depending on individual variability. There were no studies found on prevalence.
CONCLUSIONS
Dysphagia is a complex and important comorbidity in AD that impacts the quality of life. No recent publications on prevalence may imply that is not being coded as a potential cause for pneumonia deaths in AD.
PubMed: 36619845
DOI: 10.1590/1980-5764-DN-2021-0073 -
International Journal of Rheumatic... Mar 2023Cogan's syndrome (CS) is a rare inflammatory disease characterized by interstitial keratitis or uveitis, vestibular impairment, and progressive hearing loss, commonly...
Cogan's syndrome (CS) is a rare inflammatory disease characterized by interstitial keratitis or uveitis, vestibular impairment, and progressive hearing loss, commonly bilateral. Although glucocorticoids are fundamental treatment options, in most cases, hearing loss gradually worsens. Herein we report 2 pediatric cases of CS who were treated with corticosteroids and methotrexate. One patient had a cochlear implant, and the hearing of the other patient improved with treatment. Also, a systematic literature review was conducted for articles including pediatric CS patients. In the literature, 34 articles describing 44 pediatric patients with CS were identified. Sudden hearing loss (95.3%) and ocular symptoms (92.5%) were the most common manifestations in these patients. Also, aortic involvement was present in 19.5% of patients in the literature. Otorhinolaryngologists, ophthalmologists, and pediatricians should collaborate to diagnose and manage CS to prevent progressive hearing loss and eye involvement.
Topics: Humans; Child; Cogan Syndrome; Hearing Loss, Sensorineural; Syndrome; Keratitis
PubMed: 36502531
DOI: 10.1111/1756-185X.14531 -
International Journal of... Aug 2023Music-based interventions are used in the treatment of childhood speech sound disorders (SSDs). Hypotheses on working mechanisms are being developed, focussing on shared... (Review)
Review
PURPOSE
Music-based interventions are used in the treatment of childhood speech sound disorders (SSDs). Hypotheses on working mechanisms are being developed, focussing on shared neural processes. However, evidence of the effect of treatment with musical elements in SSDs in children is lacking. This study reviews the literature regarding the use of music-based interventions in the treatment of childhood SSDs.
METHOD
A systematic search in six databases was conducted, yielding 199 articles, eight of which met the inclusion criteria. Included articles were reviewed on study characteristics, patient characteristics, interventions, outcomes and methodological quality.
RESULT
This review included four case studies, three single-subject design studies and one cohort study. Seven studies reported positive outcomes on speech production, but outcome measures in the four studies with experimental design were not all aimed at the level of speech (motor) processes. Methodological quality was sufficient in one study.
CONCLUSION
Seven out of eight studies in this review report positive outcomes of music-based interventions in the treatment of SSDs. However, these outcomes are not sufficiently supported by evidence due to insufficient methodological quality. Suggestions for improving methodological quality in future research are presented.
Topics: Child; Humans; Music; Speech Sound Disorder; Cohort Studies; Speech Therapy
PubMed: 35900281
DOI: 10.1080/17549507.2022.2097310