scholarly journals Characterization of Speech and Language Phenotype in GLUT1DS

Children ◽  
2021 ◽  
Vol 8 (5) ◽  
pp. 344
Author(s):  
Martina Paola Zanaboni ◽  
Ludovica Pasca ◽  
Barbara Valeria Villa ◽  
Antonella Faggio ◽  
Serena Grumi ◽  
...  
Keyword(s):  
Language Impairment ◽  
Poor Performance ◽  
Population Data ◽  
Deficiency Syndrome ◽  
Speech And Language ◽  
Motor Speech ◽  
Speech And Language Impairment ◽  
Transporter Deficiency ◽  
Language Assessment Battery ◽  
Language Areas

Background: To analyze the oral motor, speech and language phenotype in a sample of pediatric patients with GLUT 1 transporter deficiency syndrome (GLUT1DS). Methods: eight Italian-speaking children with GLUT1DS (aged 4.6–15.4 years) in stable treatment with ketogenic diet from a variable time underwent a specific and standardized speech and language assessment battery. Results: All patients showed deficits with different degrees of impairment in multiple speech and language areas. In particular, orofacial praxis, parallel and total movements were the most impaired in the oromotor domain; in the speech domain patients obtained a poor performance in the diadochokinesis rate and in the repetition of words that resulted as severely deficient in seven out of eight patients; in the language domain the most affected abilities were semantic/phonological fluency and receptive grammar. Conclusions: GLUT1DS is associated to different levels of speech and language impairment, which should guide diagnostic and therapeutic intervention. Larger population data are needed to identify more precisely a speech and language profile in GLUT1DS patients.

scholarly journals Swallowing, Oral Motor, Motor Speech, and Language Impairments Following Acute Pediatric Ischemic Stroke

Stroke ◽  
2021 ◽  
Author(s):  
Victoria Sherman ◽  
Rosemary Martino ◽  
Ishvinder Bhathal ◽  
MN, Gabrielle DeVeber ◽  
Nomazulu Dlamini ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Caregiver Burden ◽  
Language Impairment ◽  
Pediatric Stroke ◽  
Speech And Language ◽  
Motor Speech ◽  
Oral Motor ◽  
Cerebral Sinovenous Thrombosis ◽  
Speech And Language Impairment ◽  
Sinovenous Thrombosis

Background and Purpose: Following adult stroke, dysphagia, dysarthria, and aphasia are common sequelae. Little is known about these impairments in pediatric stroke. We assessed frequencies, co-occurrence and associations of dysphagia, oral motor, motor speech, language impairment, and caregiver burden in pediatric stroke. Methods: Consecutive acute patients from term birth-18 years, hospitalized for arterial ischemic stroke (AIS), and cerebral sinovenous thrombosis, from January 2013 to November 2018 were included. Two raters reviewed patient charts to detect documentation of in-hospital dysphagia, oral motor dysfunction, motor speech and language impairment, and caregiver burden, using a priori operational definitions for notation and assessment findings. Other variables abstracted included demographics, pre-existing conditions, stroke characteristics, and discharge disposition. Impairment frequencies were obtained by univariate and bivariate analysis and associations by simple logistic regression. Results: A total of 173 patients were stratified into neonates (N=67, mean age 2.9 days, 54 AIS, 15 cerebral sinovenous thrombosis) and children (N=106, mean age 6.5 years, 73 AIS, 35 cerebral sinovenous thrombosis). Derived frequencies of impairments included dysphagia (39% neonates, 41% children); oral motor (6% neonates, 41% children); motor speech (37% children); and language (31% children). Common overlapping impairments included oral motor and motor speech (24%) and dysphagia and motor speech (23%) in children. Associations were found only in children between stroke type (AIS over cerebral sinovenous thrombosis) and AIS severity (more severe deficit at presentation) for all impairments except feeding impairment alone. Caregiver burden was present in 58% patients. Conclusions: For the first time, we systematically report the frequencies and associations of dysphagia, oral motor, motor speech, and language impairment during acute presentation of pediatric stroke, ranging from 30% to 40% for each impairment. Further research is needed to determine long-term effects of these impairments and to design standardized age-specific assessment protocols for early recognition following stroke.

Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involvesFOXP2

2006 ◽  
Vol 140A (5) ◽  
pp. 509-514 ◽  
Author(s):  
Susan Zeesman ◽  
Małgorzata J.M. Nowaczyk ◽  
Ikuko Teshima ◽  
Wendy Roberts ◽  
Janis Oram Cardy ◽  
...  
Keyword(s):  
Language Impairment ◽  
Speech And Language ◽  
Speech And Language Impairment

Pitch and Timing Abilities in Inherited Speech and Language Impairment

2000 ◽  
Vol 75 (1) ◽  
pp. 34-46 ◽  
Author(s):  
Katherine J. Alcock ◽  
Richard E. Passingham ◽  
Kate Watkins ◽  
Faraneh Vargha-Khadem
Keyword(s):  
Language Impairment ◽  
Speech And Language ◽  
Speech And Language Impairment

scholarly journals Population-Based Screening of Children for Specific Speech and Language Impairment in Germany: A Systematic Review

2011 ◽  
Vol 63 (5) ◽  
pp. 247-263 ◽  
Author(s):  
Jürgen Kasper ◽  
Julia Kreis ◽  
Fülöp Scheibler ◽  
Delia Möller ◽  
Guido Skipka ◽  
...  
Keyword(s):  
Systematic Review ◽  
Language Impairment ◽  
Population Based ◽  
Speech And Language ◽  
Speech And Language Impairment

scholarly journals Metabolic and Structural Signatures of Speech and Language Impairment in Corticobasal Syndrome: A Multimodal PET/MRI Study

2021 ◽  
Vol 12 ◽  
Author(s):  
Jacy Bezerra Parmera ◽  
Isabel Junqueira de Almeida ◽  
Marcos Castello Barbosa de Oliveira ◽  
Marcela Lima Silagi ◽  
Camila de Godoi Carneiro ◽  
...  
Keyword(s):  
Language Impairment ◽  
Fdg Pet ◽  
Verbal Fluency ◽  
Inferior Frontal Gyrus ◽  
Premotor Cortex ◽  
Corticobasal Syndrome ◽  
Speech And Language ◽  
Positive Correlation ◽  
Major Cluster ◽  
Speech And Language Impairment

Introduction: Corticobasal syndrome (CBS) is a progressive neurological disorder related to multiple underlying pathologies, including four-repeat tauopathies, such as corticobasal degeneration and progressive supranuclear palsy, and Alzheimer's disease (AD). Speech and language are commonly impaired, encompassing a broad spectrum of deficits. We aimed to investigate CBS speech and language impairment patterns in light of a multimodal imaging approach.Materials and Methods: Thirty-one patients with probable CBS were prospectively evaluated concerning their speech–language, cognitive, and motor profiles. They underwent positron emission tomography with [18F]fluorodeoxyglucose (FDG-PET) and [11C]Pittsburgh Compound-B (PIB-PET) on a hybrid PET-MRI machine to assess their amyloid status. PIB-PET images were classified based on visual and semi-quantitative analyses. Quantitative group analyses were performed on FDG-PET data, and atrophy patterns on MRI were investigated using voxel-based morphometry (VBM). Thirty healthy participants were recruited as imaging controls.Results: Aphasia was the second most prominent cognitive impairment, presented in 67.7% of the cases, following apraxia (96.8%). We identified a wide linguistic profile, ranging from nonfluent variant-primary progressive aphasia to lexical–semantic deficits, mostly with impaired verbal fluency. PIB-PET was classified as negative (CBS-A– group) in 18/31 (58%) and positive (CBS-A+ group) in 13/31 (42%) patients. The frequency of dysarthria was significantly higher in the CBS-A– group than in the CBS-A+ group (55.6 vs. 7.7%, p = 0.008). CBS patients with dysarthria had a left-sided hypometabolism at frontal regions, with a major cluster at the left inferior frontal gyrus and premotor cortex. They showed brain atrophy mainly at the opercular frontal gyrus and putamen. There was a positive correlation between [18F]FDG uptake and semantic verbal fluency at the left inferior (p = 0.006, R2 = 0.2326), middle (0.0054, R2 = 0.2376), and superior temporal gyri (p = 0.0066, R2 = 0.2276). Relative to the phonemic verbal fluency, we found a positive correlation at the left frontal opercular gyrus (p = 0.0003, R2 = 0.3685), the inferior (p = 0.0004, R2 = 0.3537), and the middle temporal gyri (p = 0.0001, R2 = 0.3993).Discussion: In the spectrum of language impairment profile, dysarthria might be helpful to distinguish CBS patients not related to AD. Metabolic and structural signatures depicted from this feature provide further insights into the motor speech production network and are also helpful to differentiate CBS variants.

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