scholarly journals Dissection of molecular mechanisms underlying speech and language disorders

2005 ◽  
Vol 26 (1) ◽  
pp. 111-128 ◽  
Author(s):  
SIMON E. FISHER

Developmental disorders affecting speech and language are highly heritable, but very little is currently understood about the neuromolecular mechanisms that underlie these traits. Integration of data from diverse research areas, including linguistics, neuropsychology, neuroimaging, genetics, molecular neuroscience, developmental biology, and evolutionary anthropology, is becoming essential for unraveling the relevant pathways. Recent studies of the FOXP2 gene provide a case in point. Mutation of FOXP2 causes a rare form of speech and language disorder, and the gene appears to be a crucial regulator of embryonic development for several tissues. Molecular investigations of the central nervous system indicate that the gene may be involved in establishing and maintaining connectivity of corticostriatal and olivocerebellar circuits in mammals. Notably, it has been shown that FOXP2 was subject to positive selection in recent human evolution. Consideration of findings from multiple levels of analysis demonstrates that FOXP2 cannot be characterized as “the gene for speech,” but rather as one critical piece of a complex puzzle. This story gives a flavor of what is to come in this field and indicates that anyone expecting simple explanations of etiology or evolution should be prepared for some intriguing surprises.

Author(s):  
Katelyn L. Gerwin ◽  
Bridget Walsh ◽  
Seth E. Tichenor

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.


Author(s):  
Joaquin Guerra ◽  
Ramon Cacabelos

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.


1989 ◽  
Vol 10 ◽  
pp. 26-36
Author(s):  
Paul Fletcher

Language pathology is a broad term, used to refer to the symptoms of speech and language speech and language disorders, the aetiologies of these disorders, and the methods and results of the disciplines which study them. The major disciplines involved are medicine, psychology, and linguistics (including speech science). It is neither possible nore desirable, in an inter-disciplinary field, to ignore the contribution of other sciences. Here, however, the concentration will be, so far as is feasible, on the distincitve role of linguistics in the investigation of language disorders. The term language disorder is used as a general label for any persistent non-normal linguistic behaivor in children or adults.


Author(s):  
S. Ya. Volgina ◽  
A. R. Ahmetova ◽  
E. A. Nikolaeva ◽  
R. G. Gamirova ◽  
N. A. Solovyeva

Speech and language are the most important means of communication between a child and the outer world. Currently in the Russian Federation there is no reliable data on the prevalence of speech and language disorders in children. According to foreign authors, speech disorders are diagnosed in 3,4–6,4% in the population of preschool children, and language disorders are diagnosed in 8–10% of cases. Early identification of the causes of speech and language development disorders in children is a complex interdisciplinary problem. The authors have developed an algorithm for diagnosing speech and language developmental disorders in preschool children, where the district pediatrician plays the leading role. It is district pediatrician who can assess the speed of the child’s speech skills development, based on age norms, analyze the history data, risk factors, carry out a physical examination of the child, develop an individual program for conducting basic laboratory and instrumental studies and consult specialists. Dynamic observation of this category of children is important.


2018 ◽  
Vol 61 (5) ◽  
pp. 1279-1291 ◽  
Author(s):  
Ramesh Raghavan ◽  
Stephen Camarata ◽  
Karl White ◽  
William Barbaresi ◽  
Susan Parish ◽  
...  

Purpose The aim of the study was to provide an overview of population science as applied to speech and language disorders, illustrate data sources, and advance a research agenda on the epidemiology of these conditions. Method Computer-aided database searches were performed to identify key national surveys and other sources of data necessary to establish the incidence, prevalence, and course and outcome of speech and language disorders. This article also summarizes a research agenda that could enhance our understanding of the epidemiology of these disorders. Results Although the data yielded estimates of prevalence and incidence for speech and language disorders, existing sources of data are inadequate to establish reliable rates of incidence, prevalence, and outcomes for speech and language disorders at the population level. Conclusions Greater support for inclusion of speech and language disorder–relevant questions is necessary in national health surveys to build the population science in the field.


1986 ◽  
Vol 51 (2) ◽  
pp. 98-110 ◽  
Author(s):  
Joseph H. Beitchman ◽  
Rama Nair ◽  
Marjorie Clegg ◽  
P. G. Patel

A representative sample of 5-year-old kindergarten children was assessed for speech and/or language disorder. Of the 1,655 children tested, 180 were identified as having speech or language impairment. It is estimated that within the total reference population, between 16.2% and 21.8% would show some impairment; for the boys, the rate would be 15.5% to 20.7% and for the girls, between 19.1% and 25.1%. Most of these children would show some language impairment as opposed to speech problems only. Approximately 36% of the identified boys and 30% of the girls would have speech problems only, the remainder having speech and language problems or language problems only. Followup studies of these children are needed to ascertain their outcome and language status in middle childhood.


Author(s):  
Lina Varžaitytė ◽  
Raimondas Savickas ◽  
Liepa Šiupinienė ◽  
Vilija Varanienė

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. 


Author(s):  
Joaquin Guerra ◽  
Ramón Cacabelos

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.


PEDIATRICS ◽  
1965 ◽  
Vol 36 (4) ◽  
pp. 637-647
Author(s):  
Gertrud L. Wyatt

From 4 to 9% of elementary school children with normal to superior intelligence exhibit symptoms of developmental speech and language disorders, such as: stuttering (or stammering);* severely defective articulation in the absence of hearing loss; and finally the syndrome of multiple perceptual, motor, and language disorder. These developmental deviations or disorders interfere markedly with early school adaptation. If no adequate help is forthcoming the symptoms may increase in severity and interfere with the achievement and social adaptation of the children concerned. The sex ratio reported has been, as a rule, 75% boys to 25% girls. The importance of the preschool years for language development has been established in many studies.1, 2 McCarthy referred to the "amazingly rapid acquisition of an extremely complex system of symbolic habits by young children,"1 while Penfield and Roberts3 mentioned the "biological time table for language learning," and assumed that the most intensive learning occurs between 2 and 4 years of age. Studies in language development carried out earlier in the century were mostly normative, focusing upon the number of different sounds and words mastered by the majority of children at a given age1, 4, 5 Thus we expect the "average" child to begin using his first words between 10 and 18 months of age, to master approximately 300 words at age 2, and approximately 1,000 words at age 3. In a more recent study, Templin compared her findings concerning children's learning of consonant sounds with those of other investigators.6 The pediatrician, trying to evaluate a child's stage of language development may want to know what specific sounds a child should be able to master at what particular age.


2020 ◽  
Vol 29 (2) ◽  
pp. 883-889 ◽  
Author(s):  
Françoise Brosseau-Lapré ◽  
Jennifer Schumaker ◽  
Keith R. Kluender

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.


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