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American Journal of Speech-language... May 2024Motor deficits are widely documented among autistic individuals, and speech characteristics consistent with a motor speech disorder have been reported in prior...
PURPOSE
Motor deficits are widely documented among autistic individuals, and speech characteristics consistent with a motor speech disorder have been reported in prior literature. We conducted an auditory-perceptual analysis of speech production skills in low and minimally verbal autistic individuals as a step toward clarifying the nature of speech production impairments in this population and the potential link between oromotor functioning and language development.
METHOD
Fifty-four low or minimally verbal autistic individuals aged 4-18 years were video-recorded performing nonspeech oromotor tasks and producing phonemes, syllables, and words in imitation. Three trained speech-language pathologists provided auditory perceptual ratings of 11 speech features reflecting speech subsystem performance and overall speech production ability. The presence, attributes, and severity of signs of oromotor dysfunction were analyzed, as were relative performance on nonspeech and speech tasks and correlations between perceptual speech features and language skills.
RESULTS AND CONCLUSIONS
Our findings provide evidence of a motor speech disorder in this population, characterized by perceptual speech features including reduced intelligibility, decreased consonant and vowel precision, and impairments of speech coordination and consistency. Speech deficits were more associated with articulation than with other speech subsystems. Speech production was more impaired than nonspeech oromotor abilities in a subgroup of the sample. Oromotor deficits were significantly associated with expressive and receptive language skills. Findings are interpreted in the context of known characteristics of the pediatric motor speech disorders childhood apraxia of speech and childhood dysarthria. These results, if replicated in future studies, have significant potential to improve the early detection of language impairments, inform the development of speech and language interventions, and aid in the identification of neurobiological mechanisms influencing communication development.
Topics: Humans; Child; Child, Preschool; Male; Adolescent; Female; Speech Intelligibility; Speech Perception; Speech Production Measurement; Autistic Disorder; Video Recording; Speech Disorders; Speech-Language Pathology; Articulation Disorders
PubMed: 38512040
DOI: 10.1044/2024_AJSLP-23-00237 -
Journal of Speech, Language, and... Apr 2024Childhood apraxia of speech (CAS) is a multivariate motor speech disorder that requires a motor-based intervention approach. There is limited treatment research on young...
PURPOSE
Childhood apraxia of speech (CAS) is a multivariate motor speech disorder that requires a motor-based intervention approach. There is limited treatment research on young children with CAS, reflecting a critical gap in the literature given that features of CAS are often in full expression early in development. Dynamic Temporal and Tactile Cueing (DTTC) is a treatment approach designed for children with severe CAS, yet the use of DTTC with children younger than 3 years of age has not been examined.
METHOD
A multiple single-case design was employed to examine the use of DTTC in seven children with CAS (aged 2.5-5 years) over the course of 6 weeks of intervention. Changes in word accuracy were measured in treated words from baseline to posttreatment and from baseline to maintenance (6 weeks posttreatment). Generalization of word accuracy changes to matched untreated words was also examined. A linear mixed-effects model was used to estimate the change in word accuracy for treated and untreated words across all children from baseline to posttreatment and to maintenance. A quasi-Poisson regression model was used to estimate mean change and calculate effect sizes for treated and untreated words.
RESULTS
Group-level analyses revealed significant changes in word accuracy for treated and untreated words at posttreatment and maintenance. At the child level, six of seven children displayed medium-to-large effect sizes where word accuracy increased in an average of 3.4/5 words across all children. Each child displayed some degree of generalization to untreated targets, specifically for words with the same syllable shape as the treated words.
CONCLUSIONS
These results demonstrate that DTTC can yield positive change in some young children with CAS. Key differences in each child's performance are highlighted.
Topics: Child; Humans; Child, Preschool; Speech; Speech Therapy; Apraxias; Speech Disorders; Cues
PubMed: 38512002
DOI: 10.1044/2024_JSLHR-23-00415 -
The International Tinnitus Journal Mar 2024Deep functional and structural neuroimaging of a series of Gerstmann's syndrome patients required high accuracy, and our results avoided false overlaps of heterogeneous...
Deep functional and structural neuroimaging of a series of Gerstmann's syndrome patients required high accuracy, and our results avoided false overlaps of heterogeneous brain lesions by handling each case of our study subjects separately as an individual case regarding functional and neuroimaging tests. Six patients with Gerstmann tetrad (one with dominant acalculia, one with dominant left and right disorientation, two with writing disabilities and two with finger agnosia) and 6 control subjects with close ages were recruited in the current study. In the main phase, we assessed brain activation in response to experimental and interventional settings using neuroimaging techniques (FMRI-Functional Magnetic Resonance Imagingwhere twelve pictures were taken on a Dell inspiration 3T all-body scanner with sequences of echo pictures, 80o angled, TE 35 ms) of the subject's brain to declare lesions existence and locations that might result in one of the four cognitive impairment domains of Gerstman's syndrome tetrad. We assessed statistically significant differences of patient images vs. control images as well as the images of patients presenting specific symptomatic cognitive dysfunction domain vs. the images of patients presenting the three other domains. Neuroimages were analyzed using multiple databases such as T1 weighted and free sequence types. Gerstmann's syndrome is mainly connected to injury in the dominant parietal lobe, so images comparisons and analysis were only restricted to the left parietal lobe region. P values <0.05were only considered as statistically significant difference in comparisons of functional tests time and accuracy of patients vs. in addition to comparisons of brain images parameters of patient group vs. control group and specific symptomatic domain patients vs. other symptomatic domains patients. Regarding functional testing, Patients group took significantly higher time compared to control group. Regarding brain images parameters, patients in each domain showed significantly different lesions compared to other domains. Moreover, control subjects showed no lesions in the left parietal lobe compared to significant lesions in the patient groups. These results oppose the theory of Gerstmann that a common brain structural injury may result in the combination of all of the four symptomatic dysfunction domains. This may be due to the fact that Gerstmann examined incomplete cases which represent a considerable criticism to his scientific basis. Moreover, he excluded patients with speech difficulties and apraxia.
Topics: Male; Humans; Gerstmann Syndrome; Case-Control Studies; Brain; Magnetic Resonance Imaging; Speech Disorders
PubMed: 38507641
DOI: 10.5935/0946-5448.20230038 -
Neuromolecular Medicine Mar 2024Familial Alzheimer's disease (AD) is a rare disease caused by autosomal-dominant mutations. APP (encoding amyloid precursor protein), PSEN1 (encoding presenilin 1), and...
Familial Alzheimer's disease (AD) is a rare disease caused by autosomal-dominant mutations. APP (encoding amyloid precursor protein), PSEN1 (encoding presenilin 1), and PSEN2 (encoding presenilin 2) are the most common genes cause dominant inherited AD. This study aimed to demonstrate a Chinese early-onset AD pedigree presenting as progressive memory impairment, apraxia, visual-spatial disorders, psychobehavioral disorders, and personality changes with a novel APP gene mutation. The family contains four patients, three carries and three normal family members. The proband underwent brain magnetic resonance imaging (MRI), F-fludeoxyglucose positron emission tomography (F-FDG-PET), cerebrospinal fluid amyloid detection, F-florbetapir (AV-45) Positron Emission Computed Tomography (PET) imaging, whole-exome sequencing and Sanger sequencing. Brain MRI images showed brain atrophy, especially in the entorhinal cortex, temporal hippocampus, and lateral ventricle dilation. The FDG-PET showed hypometabolism in the frontotemporal, parietal, and hippocampal regions. F-florbetapir (AV-45) PET imaging showed cerebral cortex Aβ protein deposition. The cerebrospinal fluid amyloid protein test showed Aβ42/Aβ40 ratio decreases, pathological phosphor-tau level increases. Whole-exome sequencing detected a new missense mutation of codon 671 (M671L), which was a heterozygous A to T point mutation at position 2011 (c.2011A > T) in exon 16 of the amyloid precursor protein, resulting in the replacement of methionine to Leucine. The co-separation analysis was validated in this family. The mutation was found in 3 patients, 3 clinical normal members in the family, but not in the other 3 unaffected family members, 100 unrelated normal subjects, or 100 sporadic patients with AD. This mutation was probably pathogenic and novel in a Chinese Han family with early-onset AD.
Topics: Humans; Alzheimer Disease; Amyloid beta-Protein Precursor; Fluorodeoxyglucose F18; Mutation; China; Presenilin-1; Amyloid beta-Peptides; Aniline Compounds; Ethylene Glycols
PubMed: 38504005
DOI: 10.1007/s12017-023-08770-1 -
Parkinsonism & Related Disorders Jun 2024Corticobasal syndrome is generally considered to be a sporadic condition. There are familial and isolated genetic cases, associated with GRN, MAPT, c9orf72 or PNRP...
Corticobasal syndrome is generally considered to be a sporadic condition. There are familial and isolated genetic cases, associated with GRN, MAPT, c9orf72 or PNRP variants. Some reports implicate other genes: LRRK2, CHMP2B, GBA, CYP27A1, PSEN1, APP, TARDBP and TBK1. Here, we report a case of a patient carrying a SQSTM1 Pro392Leu variant. We report a 57-year-old right-handed-woman with a history of progressive speech impairment, marked right side rigidity and bradykinesia, with rest tremor and stimulus sensitive myoclonus. She had predominantly right-sided apraxia. She had right side agraphestesia and astereognosis. MRI showed asymmetrical left frontotemporoparietal atrophy. DaTSCAN showed predominantly left involvement, PiB-PET was negative. CSF NfL was of 9356.5pg/mL. She carried a heterozygous variant P392L in SQSTM1. This case report expands the spectrum of phenotypes associated with SQSTM1 pathogenic variants. It also expands the list of genes associated with corticobasal syndrome, supporting the involvement of the ubiquitin-proteasome system in this condition.
Topics: Humans; Female; Middle Aged; Sequestosome-1 Protein; Primary Progressive Nonfluent Aphasia; Corticobasal Degeneration
PubMed: 38493523
DOI: 10.1016/j.parkreldis.2024.106069 -
Multiple Sclerosis and Related Disorders May 2024Many different pathologies may underlie tumefactive demyelinating lesions. Identifying clinical and radiologic distinguishing features before pathologic examination is...
BACKGROUND
Many different pathologies may underlie tumefactive demyelinating lesions. Identifying clinical and radiologic distinguishing features before pathologic examination is essential for diagnosis and treatment. In this study, we aimed to determine the clinical and radiologic features affecting the etiology and disease course of patients with tumefactive lesions (TDL).
MATERIALS AND METHODS
We included 35 clinicoradiologically or histologically diagnosed TDL patients in our center over 11 years. Patient records were retrospectively evaluated and recorded. Clinical features, cerebral neuroimaging, and histologic biopsy preparations, if any, were assessed by three independent neurologists, two neuroradiologists, and two pathologists at admission and follow-up, respectively.
RESULTS
The mean age of patients with TDL was 40.02±14.40 years. Symptom onset was 15 (1-365) days. The most common complaints at initial presentation were hemiparesis or hemiplegia, sensory complaints, and cognitive impairment (aphasia or apraxia). The lesions were most commonly localized in the frontal lobe (42.9 %). Mass effect was 17.1 %, edema 60 %, diffusion restriction 62.1 %, and contrast enhancement 71.9 % (mostly ring-shaped (68.8 %)) on MR images. Acute onset and OCB type-2 positivity were associated with MS diagnosis. On the other hand, CSF protein levels above 45 mg/dL were found to be related to non-MS etiologies. Only the predominance of aphasia or apraxia at onset was a risk factor for early high disability (EDSS>4; 3rd month). Subacute-chronic onset, being older than 40 years, or having brainstem symptoms at onset were independent risk factors for late high disability (2nd year).
CONCLUSION
Acute onset or OCB type 2 positivity is a clue for early diagnosis of MS, while elevated CSF protein is a clue for demyelinating diseases other than MS. Presentation with cognitive dysfunction at onset is an independent risk factor for early disability, while age above 40 years, subacute-chronic presentation and brainstem findings at presentation are independent risk factors for late disability.
Topics: Humans; Female; Male; Adult; Middle Aged; Multiple Sclerosis; Retrospective Studies; Magnetic Resonance Imaging; Prognosis; Demyelinating Diseases; Young Adult; Brain
PubMed: 38460252
DOI: 10.1016/j.msard.2024.105537 -
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 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Mar 2024Since genetic research entered the post-genomic era, the high heritability of language disorders has been confirmed. A variety of genetic-related diseases may cause...
Since genetic research entered the post-genomic era, the high heritability of language disorders has been confirmed. A variety of genetic-related diseases may cause various types of language disorders in children and/or adults. This article has summarized language disorders and their underlying mechanisms by searching the Web of Science database over the last decade, and combed the genetic researches for dyslexia, frontotemporal degeneration, specific language disorder, childhood speech apraxia and other single diseases that are strongly associated with the language disorders. It also provided a discussion over the co-occurrence of multiple diseases, with an aim to revealing the genetic association and/or pathogenetic mechanism in order to provide inspiration for the prevention, diagnosis, and treatment of language disorders.
Topics: Adult; Child; Humans; Genomics; Language Disorders; Atrophy; Genetic Research
PubMed: 38448032
DOI: 10.3760/cma.j.cn511374-20221115-00787 -
American Journal of Medical Genetics.... Feb 2024Pathogenic variants in DDX3X are associated with neurodevelopmental disorders. Communication impairments are commonly reported, yet specific speech and language...
Pathogenic variants in DDX3X are associated with neurodevelopmental disorders. Communication impairments are commonly reported, yet specific speech and language diagnoses have not been delineated, preventing prognostic counseling and targeted therapies. Here, we characterized speech and language in 38 female individuals, aged 1.69-24.34 years, with pathogenic and likely pathogenic DDX3X variants (missense, n = 13; nonsense, n = 12; frameshift, n = 7; splice site, n = 3; synonymous, n = 2; deletion, n = 1). Standardized speech, language, motor, social, and adaptive behavior assessments were administered. All participants had gross motor deficits in infancy (34/34), and fine motor deficits were common throughout childhood (94%; 32/34). Intellectual disability was reported in 86% (24/28) of participants over 4 years of age. Expressive, receptive, and social communication skills were, on average, severely impaired. However, receptive language was significantly stronger than expressive language ability. Over half of the assessed participants were minimally verbal (66%; 22/33; range = 2 years 2 months-24 years 4 months; mean = 8 years; SD = 6 years) and augmented speech with sign language, gestures, or digital devices. A quarter of the cohort had childhood apraxia of speech (25%; 9/36). Despite speech and language impairments, social motivation was a relevant strength. Many participants used augmentative and alternative communication (AAC), underscoring the need for early, tailored, and comprehensive AAC intervention.
PubMed: 38421120
DOI: 10.1002/ajmg.b.32971