Genomics of Speech and Language Disorders

2018 ◽  
Author(s):  
Joaquin Guerra ◽  
Ramon Cacabelos
Keyword(s):  
Molecular Mechanisms ◽  
De Novo ◽  
Language Disorder ◽  
Speech Sound ◽  
Language Disorders ◽  
Communication Disorders ◽  
Autism Spectrum ◽  
Speech Disorders ◽  
Speech And Language ◽  
Co Morbidity

There are multiple factors involved in speech and language. Investigating animal models, mainly through songbirds, have allowed a better understanding of the language process. Verbal dyspraxia, dysarthria, speech sound disorder, and stuttering are some examples of speech disorders, and specific language disorder, aphasia and, dyslexia of language disorders. More complex syndromes such as Autism-spectrum disorders, Down’s or Fragile X have more variable features. Genetic factors, such as hereditary or de novo mutations may be responsible for their development. In addition, most of them are involved in neurodevelopment with a huge range of molecular mechanisms and pathways that interact with each other, and there may be co-morbidity with other communication disorders or develop phenotypes unrelated to communication. Genes with heterogeneous functions in speech and language such as FOXP1, FOXP2, KIAA0319, ROBO1, APOE or CNTNAP2 are some examples. Epigenetic factors, especially miRNAs, influence their expressiveness. The genomics of these disorders allows us to understand language acquisition, carry out early detection strategies, genetic counseling and optimize future treatments, not only in communication disorders but also those neurological alterations that incorporate these mutations.

Genomics of Speech and Language Disorders

2018 ◽  
Author(s):  
Joaquin Guerra ◽  
Ramón Cacabelos
Keyword(s):  
Molecular Mechanisms ◽  
De Novo ◽  
Language Disorder ◽  
Speech Sound ◽  
Language Disorders ◽  
Communication Disorders ◽  
Autism Spectrum ◽  
Speech Disorders ◽  
Speech And Language ◽  
Co Morbidity

There are multiple factors involved in speech and language. Investigating animal models, mainly through songbirds, have allowed a better understanding of the language process. Verbal dyspraxia, dysarthria, speech sound disorder, and stuttering are some examples of speech disorders, and specific language disorder, aphasia and, dyslexia of language disorders. More complex syndromes such as Autism-spectrum disorders, Down’s or Fragile X have more variable features. Genetic factors, such as hereditary or de novo mutations may be responsible for their development. In addition, most of them are involved in neurodevelopment with a huge range of molecular mechanisms and pathways that interact with each other, and there may be co-morbidity with other communication disorders or develop phenotypes unrelated to communication. Genes with heterogeneous functions in speech and language such as FOXP1, FOXP2, KIAA0319, ROBO1, APOE or CNTNAP2 are some examples. Epigenetic factors, especially miRNAs, influence their expressiveness. The genomics of these disorders allows us to understand language acquisition, carry out early detection strategies, genetic counseling and optimize future treatments, not only in communication disorders but also those neurological alterations that incorporate these mutations.

Nonword Repetition Performance Differentiates Children Who Stutter With and Without Concomitant Speech Sound and Developmental Language Disorders

2022 ◽  
pp. 1-13
Author(s):  
Katelyn L. Gerwin ◽  
Bridget Walsh ◽  
Seth E. Tichenor
Keyword(s):  
Sound Production ◽  
Language Disorder ◽  
Speech Sound ◽  
Language Disorders ◽  
Nonword Repetition ◽  
Driving Factor ◽  
Speech And Language ◽  
Speech Sound Disorder ◽  
Language Abilities ◽  
Speech And Language Disorders

Purpose: The aim of this study was to examine how nonword repetition (NWR) performance may be impacted by the presence of concomitant speech and language disorders in young children who stutter (CWS). Method: One hundred forty-one children (88 CWS and 53 children who do not stutter [CWNS]) participated. CWS were divided into groups based on the presence of speech sound and/or language disorder or typical speech sound production and language abilities. NWR abilities were measured using stimuli composed of one- to four-syllable nonwords. Results: CWS with typical speech and language and CWNS had higher accuracy scores than CWS with concomitant speech and language disorders. We found no difference in accuracy scores between CWNS and CWS with typical speech and language abilities, nor did we find differences between CWS with speech sound disorder and CWS with both speech sound and language disorders. Accuracy decreased as nonword length increased for all groups. Conclusions: We found that the presence of a concomitant speech and language disorder was a driving factor behind poorer NWR performance in CWS. Accuracy scores differentiated CWS with concomitant disorders from CWS with typical speech and language but not CWS with typical speech and language from CWNS. Considering the speech and language abilities of CWS helped clarify poorer NWR performance and enhances generalizability to the population that exists clinically.

scholarly journals The Influence of Speech and Language Disorders on the Effectiveness of Rehabilitation of Individuals who Suffered Stroke

2019 ◽  
Vol 2 (13) ◽  
Author(s):  
Lina Varžaitytė ◽  
Raimondas Savickas ◽  
Liepa Šiupinienė ◽  
Vilija Varanienė
Keyword(s):  
Language Disorder ◽  
Early Period ◽  
Language Disorders ◽  
Inpatient Rehabilitation ◽  
Functional Independence ◽  
Speech Disorders ◽  
Speech And Language ◽  
Stroke Patients ◽  
The Difference ◽  
Speech And Language Disorders

Background. The speech and language disorders for stroke patients are associate with bigger morbidity, mortality, hypofunction, but the literature fndings are controversial. The aim of the study is to analyse the influence of speech and language disorders on the effectiveness of rehabilitation of individuals who suffered stroke. Subjects and methods. The study involved 64 individuals with stroke who were treated at LUHSH KK Neurorehabilitation subdivision during the years 2008 and 2010. In this analysis a retrospective data from hospital medical records forms was used. The effectiveness of rehabilitation was assessed by a change of results of functional independence measurement (FIM) and mini-mental state examination (MMSE) tests during rehabilitation. The factors that may influence the effectiveness of rehabilitation (age, gender, type of speech and language disorder) were analysed. Results. The analysis revealed that rehabilitation was effective and effcient for individuals who suffered stroke both in the right and the left side, and the difference was not statistically signifcant. The FIM results of individuals with speech disorders before rehabilitation were worse, comparing to those who had speech and language disorder. The difference was statistically significant (p = 0.004). But after rehabilitation, although the FIM results of subjects with speech impairments remained lower, the difference was not statistically signifcant (p = 0.367). The difference between FIM results after rehabilitation among separate aphasia groups was not statistically signifcant. But there was a statistically signifcant difference, comparing MMSE results before and after rehabilitation (p = 0.02). Conclusions. The inpatient rehabilitation was effective for stroke patients. The age and gender did not have statistically signifcant influence. The speech and language disorders did not have statistically signifcant influence to recovery of cognitive dysfunction for stroke patients in the early period of rehabilitation.Keywords: stroke, speech and language disorder, rehabilitation. 

scholarly journals Perception of Medial Consonants by Children With and Without Speech and Language Disorders: A Preliminary Study

2020 ◽  
Vol 29 (2) ◽  
pp. 883-889 ◽  
Author(s):  
Françoise Brosseau-Lapré ◽  
Jennifer Schumaker ◽  
Keith R. Kluender
Keyword(s):  
Language Disorder ◽  
Statistical Significance ◽  
Speech Sound ◽  
Language Disorders ◽  
Speech And Language ◽  
Language Tests ◽  
Mixed Analysis ◽  
Word Position ◽  
Preliminary Study ◽  
Speech And Language Disorders

Purpose The aim of this preliminary study was to investigate perception of the early-acquired consonant /p/ and later-acquired consonant /ʃ/ in medial word position by preschoolers with and without speech and language disorders. Method Twenty-four children, six with isolated speech sound disorder (SSD-only), six with SSD and concomitant developmental language disorder (SSD + DLD), and 12 with typical speech and language skills (TD) completed a battery of standardized speech and language tests as well as an identification task of /aCa/ disyllables. Targets and foils varied by only one place, manner, or voice feature. Mixed analysis of variance (participant groups × two target consonants) was conducted to compare performance of children in the three groups (between-subjects) and to compare performance on consonants that are early acquired or later acquired (within-subject). Results All groups of participants were more accurate in perceiving the early-acquired consonant than the later-acquired consonant. Overall performance by children with SSD-only did not differ significantly from children with TD. As a group, children with SSD + DLD were less accurate than children with TD and children with SSD-only for both target consonants. Conclusions Children with SSD + DLD performed less well than peers with SSD-only and with TD with both predictably easy and difficult sound contrasts. Children with SSD-only performed nominally less well than children with TD for the speech sound with which they have difficulty, but this difference did not reach statistical significance for these relatively small group sizes.

scholarly journals The Speech “Bamana”: Using the Syllable Repetition Task to Identify Underlying Phonological Deficits in Children With Speech and Language Impairments

2020 ◽  
Vol 63 (7) ◽  
pp. 2229-2244
Author(s):  
Elizabeth Roepke ◽  
Kathryn E. Bower ◽  
Catherine A. Miller ◽  
Françoise Brosseau-Lapré
Keyword(s):  
Multivariate Analysis ◽  
Initial Stress ◽  
Language Disorder ◽  
Speech Sound ◽  
Analysis Of Covariance ◽  
Speech And Language ◽  
Speech Sound Disorder ◽  
Phonological Deficits ◽  
Syllable Repetition ◽  
Repetition Task

Purpose This study compared performance on the Syllable Repetition Task (SRT) by preschoolers with diverse speech and language abilities to identify underlying impairments in speech processes. Method Three groups of 13 children ages 4 and 5 years with (a) typically developing (TD) speech and language, (b) speech sound disorder (SSD), and (c) comorbid developmental language disorder and speech sound disorder (DLD + SSD) completed the SRT. We calculated competence, memory, encoding, and transcoding scores, as well as word-initial stress pattern and vowel accuracy. Results A 3 × 3 (Group × Syllable length) factorial multivariate analysis of covariance revealed group differences for all measures and syllable length differences for memory, transcoding, and competence. There were no interactions between group and syllable length. TD children obtained the highest scores on each measure, though children with DLD + SSD performed similarly to TD children on encoding when vocabulary was included as a covariate. Children with SSD only outperformed children with DLD + SSD on competence and transcoding, and these two groups performed similarly on memory. A separate exploratory analysis using a 3 × 3 multivariate analysis of covariance revealed that children with DLD + SSD were more likely than children in the other groups to produce weak word-initial stress and vowel errors during syllable repetition. Conclusion Children with SSD and DLD + SSD exhibit underlying phonological deficits on the SRT compared to TD children. Results support the claim that memory and encoding are deficits in SSD. In addition, transcoding deficits were identified among children with no known oromotor impairment. Therefore, more research is required to identify the relationship between SRT performance and explicit measures of phonological processing.

Oral and Verbal Praxis in Impaired Language Learners

2021 ◽  
pp. 003151252110564
Author(s):  
Swapna Narayanan ◽  
Kavya Vijayan ◽  
Mekhala Vastare Guruprasad ◽  
Prashanth Prabhu P ◽  
Animesh Barman
Keyword(s):  
Specific Language Impairment ◽  
Language Production ◽  
Language Disorder ◽  
Speech Sound ◽  
Clinical Group ◽  
Assessment Protocol ◽  
Sequential Movements ◽  
Oral Motor ◽  
Co Morbidity ◽  
Significant Difference

In the context of language descriptions, the terms oral and verbal praxis refer to volitional movements for performing oral gestures and movements for speech. These movements involve programming articulators and rapid sequences of muscle firings that are required for speech sound productions. A growing body of research has highlighted the links between oral motor kinematics and language production skills in both typically developing (TD) children and children with developmental language disorders, including Specific Language Impairment (SLI). Yet, there have been limited attempts to assess the link between non-linguistic and linguistic development. In the present study, we investigated oral and verbal praxis behaviors in children with SLI. Fifteen children with SLI formed a clinical group and 15 children with typical development who were matched to the clinical group for chronological age, gender, and socio-economic status formed the TD group. We assessed participants in both groups for their language abilities with age-appropriate standardized language tests. To investigate oral and verbal praxis behaviors, we administered the Assessment Protocol for Oral Motor, Oral Praxis and Verbal Praxis Skills to the two groups. We used the non-parametric Mann–Whitney U test to compare the two groups with respect to oral and verbal praxis measures; and we found a significant difference between isolated and sequential movements in the oral praxis section in two age subgroups of these groups ( p ≤ .05). Spearman’s correlations revealed a strong correlation between core language scores and sequential movements in the younger children with SLI and in TD children. These results showed co-morbidity between SLI and poor oral motor skills, suggesting that SLI is not just a language disorder, but a group of co-morbid conditions that include oral motor and verbal praxis difficulties.

OP312 Developing A Tool-kit For Assessment Of Autism Spectrum Disorder

2021 ◽  
Vol 37 (S1) ◽  
pp. 12-12
Author(s):  
Leah Watson ◽  
Shirley Jonathan
Keyword(s):  
Autism Spectrum Disorder ◽  
Language Disorder ◽  
Autism Spectrum ◽  
Early Years ◽  
Spectrum Disorder ◽  
Global Developmental Delay ◽  
Evidence Based ◽  
Speech And Language ◽  
Autism Symptoms ◽  
Therapy Assessment

IntroductionBefore the coronavirus pandemic, children who were on the Early Years Neurodevelopment (EYND) assessment pathway and suspected to have possible Autism Spectrum Disorder (ASD), received clinic based appointments. This process included a parental interview by a doctor, a specialist speech and language therapy assessment, autism diagnostic observation schedule (ADOS), which were all carried out on hospital sites. These were postponed in March following national guidance. Our aim was to continue providing accurate evidence-based service for ASD diagnosis.MethodsWe utilised evidence-based telehealth methods to perform a specialist speech and language assessment in a child's home via video call. Parents were also invited to share videos of everyday activities via a secure portal. We could observe the child in a meaningful setting and witness functional impact of their needs. Each case is discussed by a multiagency panel based on DSM-V criteria.Online training was undertaken by professionals to deliver the Brief Observation of Autism Symptoms (BOSA) based on the ADOS for COVID times. Parents were coached by the therapist to enable them to become the administrator, rather than a professional.ResultsTelephonic feedback from the first ten parents whose children underwent a telehealth assessment has been positive; the home was deemed more natural and for some less distressing than clinic. Formal patient surveys have been devised for both the telehealth and BOSA clinic assessments. Analysis is expected by the end of March.To date we have been able to reach an outcome for thirty children, the diagnosis of ASD for twenty-four children and the other six received a diagnosis of global developmental delay or language disorder.ConclusionsWe expect that telehealth will reduce the number of assessments before an ASD diagnosis is made resulting in more prudent healthcare. The new methods have demonstrated clear increased parental participation.

ADHD and communication disorders

2018 ◽  
Author(s):  
Rosemary Tannock
Keyword(s):  
Clinical Manifestation ◽  
Clinical Assessment ◽  
Neurodevelopmental Disorders ◽  
Speech Sound ◽  
Language Disorders ◽  
Communication Disorders ◽  
Speech Sound Disorders ◽  
Treatment And Prevention ◽  
Pragmatic Communication

ADHD and communication disorders are both common neurodevelopmental disorders that often co-occur. Comorbidity (i.e. co-occurrence or two or more disorders in a person) is potentially important for the theory, the underlying aetiology, treatment, and prevention of the disorders. This chapter first reviews the extent of co-occurrence between ADHD and various subtypes of communication disorders (language disorders, speech sound disorders, social pragmatic communication disorders), along with their clinical manifestation. Next, the extant evidence to support or refute various models of comorbidity (i.e. artifactual versus non-artifactual) is reviewed and critiqued. The chapter concludes with a discussion of the implications of co-occurring communication disorders and ADHD for the clinical assessment and management of ADHD.

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