Genetics of language disorders: clinical conditions, phenotypes, and genes

2007 ◽  
pp. 684-700
Author(s):  
Mabel L. Rice ◽  
Filip Smolík
Keyword(s):  
Twin Studies ◽  
Language Disorders ◽  
Language Impairments ◽  
Speech Impairments ◽  
Language Abilities ◽  
Multiple Dimensions ◽  
Scientific Context ◽  
Ancient Times ◽  
Clinical Conditions

Persons who do not acquire language in the expected ways show variation that can be linked or associated with genetic variations. Just as in ancient times, there is great interest in young children's language abilities as a window onto inherited mechanisms. In the case of language impairments, there are multiple dimensions of possible phenotypes that intertwine language symptoms with more general cognitive and sensory symptoms. This article summarises current investigations of the FOXP2 gene, as a case study of the steps involved in relating language disorders and genes, and progresses toward the molecular level. It also brings in recent investigations of the genetics of reading and speech impairments, and possible overlap with language impairments; describes the outcomes of twin studies, and the ways that phenotype definitions interact with genetic interpretations; and looks at “the first psycholinguistic experiment,” reported by Herodotus and updated to the modern scientific context.

Understanding children with language problems. Shula Chiat. Cambridge: Cambridge University Press, 2000. Pp. 286.

2001 ◽  
Vol 22 (4) ◽  
pp. 647-650
Author(s):  
Stacy Silverman
Keyword(s):  
Language Processing ◽  
Language Disorder ◽  
Processing System ◽  
Language Disorders ◽  
Phonological Development ◽  
Language Abilities ◽  
Senior Lecturer ◽  
Problem Solve ◽  
The Impact

Examining the language abilities of children with language disorders should be a deductive process, using much more than the data that formal measures provide. The assessment should be a systematic, psycholinguistic exploration of aspects of a child's input and output, with a focus on the attempt to pinpoint specific areas of deficit within the language-processing system. Chiat, in this insightful and extremely accessible book, provides basic profiles of children with language disorders, along with case study examples, that both illustrate various forms of language disorder and demonstrate the use of tasks, commonly applied in psycholinguistic research, to problem-solve specific cases. Chiat is a senior lecturer in Linguistics at City University, London, where she is an established researcher who focuses primarily on phonological development and disorders and the impact of impaired phonology on lexical/semantic development.

Clinical Lessons From Studies of Children With Specific Language Impairment

2020 ◽  
Vol 5 (1) ◽  
pp. 12-29 ◽  
Author(s):  
Mabel L. Rice
Keyword(s):  
Language Impairment ◽  
Specific Language Impairment ◽  
Language Disorders ◽  
Language Impairments ◽  
Current Debate ◽  
Speech Impairments ◽  
Media Advocacy ◽  
Specific Language ◽  
Causal Pathways ◽  
Clinical Category

Purpose This clinical focus article addresses a current debate contrasting the long-standing label of “specific language impairment” (SLI) with a recent alternative, “developmental language disorders” (DLDs); the criteria for SLI yields a subset of children defined as DLD. Recent social media advocacy for DLD asserts that the two categories of children are clinically equivalent, and therefore, DLD can be used as a label for which SLI criteria would hold. Coupled with DLD advocacy is the assumption that research on SLI has not yielded clinically relevant outcomes. This clinical focus article challenges those assumptions. The clinical focus article is framed as parallels between precision medicine and evidence-based practice. The purposes of this clinical focus article are as follows: (a) revisit the legacy of research on SLI; (b) describe language development in children with SLI into adulthood; (c) address widespread but erroneous assumptions about relationships between speech impairments and language impairments, and relationships between nonverbal IQ and language impairments; (d) briefly review evidence for causal pathways; and (e) present clinical lessons from research on children with SLI. Method Narrative review is the method used in the study. Conclusions The purposes of the clinical focus article were met by reviews, commentary, and supporting arguments in each section. The conclusions are that the research and clinical category of SLI is needed for accurate and precise clinical practice, including diagnosis, prognosis, clinical goals, sequencing of tasks for success, and consideration of language disorders in the context of a broad thicket of related consequences.

A Case Study of Psychopathology and Personality Processes in Twins of Indian Origin

2020 ◽  
Vol 11 (01) ◽  
Author(s):  
Saranya Banerjee ◽  
Deepshikha Ray
Keyword(s):  
Twin Studies ◽  
Thematic Apperception Test ◽  
Psychometric Assessment ◽  
Intelligence Scale ◽  
Indian Origin ◽  
Thematic Apperception ◽  
Inkblot Test ◽  
Present Case Study

Twin studies have mostly focused on the pattern of maladaptive behaviour manifested by the twins and their biological basis but the findings have remained controversial till date. The present case study explores the psychopathology in 14 year old twins of Indian origin. They were referred for psychometric assessment and psychotherapy for their conduct problems. The tools administered on them during psychometric assessment are Wechsler Intelligence Scale for Children IV (WISC-IV), Rorschach Inkblot Test (RIBT) and Thematic Apperception Test (TAT). Findings are discussed in terms of the personality processes and relationship quality of the twins.

scholarly journals Pediatric Septic Arthritis of the Knee Due to a Multi-Sensitive Streptococcus pyogenes Strain Responsive to Clindamycin—A Case Report

Children ◽  
2021 ◽  
Vol 8 (3) ◽  
pp. 189
Author(s):  
Giada Maria Di Pietro ◽  
Irene Maria Borzani ◽  
Sebastiano Aleo ◽  
Samantha Bosis ◽  
Paola Marchisio ◽  
...  
Keyword(s):  
Septic Arthritis ◽  
Streptococcus Pyogenes ◽  
Antibiotic Sensitivity ◽  
Antimicrobial Treatment ◽  
Antibiotic Regimen ◽  
Hematogenous Spread ◽  
Clinical Resistance ◽  
Antibiotic Sensitivity Test ◽  
Clinical Conditions

Septic arthritis is an inflammatory process usually generated by a bacterial infection. The knee is one of the most frequently involved joints. The etiology varies depending on age, and hematogenous spread remains the primary cause in children. Herein, we report a case of a previously healthy three-year-old female who was referred to our institution for acute swelling of her right knee. After a clinical and radiological diagnosis of septic arthritis, an empirical treatment with a combination of cefotaxime and clindamycin was initiated. The isolation of a multi-sensitive Streptococcus pyogenes strain from the joint’s effusion prompted the discontinuation of clindamycin and the usage of cefotaxime alone. One week later, an ultrasound was executed due to worsening in the patient’s clinical conditions, and an organized corpuscular intra-articular effusion with diffuse synovial thickening was revealed. Cefotaxime was therefore replaced with clindamycin, which improved the symptoms. Despite the antibiotic sensitivity test having revealed a microorganism with sensitivity to both cephalosporin and clindamycin, clinical resistance to cefotaxime was encountered and a shift in the antimicrobial treatment was necessary to ensure a full recovery. This case study confirms that an antibiotic regimen based solely on a susceptibility test may be ineffective for such cases.

scholarly journals Water security in the Canadian Prairies: science and management challenges

2013 ◽  
Vol 371 (2002) ◽  
pp. 20120409 ◽  
Author(s):  
Howard Wheater ◽  
Patricia Gober
Keyword(s):  
Social Sciences ◽  
Large Scale ◽  
Water Security ◽  
Western Canada ◽  
Deep Uncertainty ◽  
Canadian Prairies ◽  
Multiple Dimensions ◽  
Security Challenges ◽  
Water Problems

In this paper, we discuss the multiple dimensions of water security and define a set of thematic challenges for science, policy and governance, based around cross-scale dynamics, complexity and uncertainty. A case study of the Saskatchewan River basin (SRB) in western Canada is presented, which encompasses many of the water-security challenges faced worldwide. A science agenda is defined based on the development of the SRB as a large-scale observatory to develop the underpinning science and social science needed to improve our understanding of water futures under societal and environmental change. We argue that non-stationarity poses profound challenges for existing science and that new integration of the natural sciences, engineering and social sciences is needed to address decision making under deep uncertainty. We suggest that vulnerability analysis can be combined with scenario-based modelling to address issues of water security and that knowledge translation should be coupled with place-based modelling, adaptive governance and social learning to address the complexity uncertainty and scale dynamics of contemporary water problems.

scholarly journals Online Social Gambling and Its Implications for the Study of Marketing Communications

2015 ◽  
Vol 4 (3) ◽  
pp. 22-50 ◽  
Author(s):  
Wilson Ozuem ◽  
Jason Prasad
Keyword(s):  
Single Case ◽  
Internet Technology ◽  
Marketing Communication ◽  
Single Case Study ◽  
New Approach ◽  
Real Money ◽  
Long Time ◽  
Ancient Times ◽  
Communication Practices

Gambling has been a part of humanity for a long time, and references to it have been found in some of the earliest dated records. Literature on the topic has been accumulating since ancient times. The advent of Internet technology along with its typical subsets provides a new approach to how gambling is conducted in postmodern times. Drawing on qualitative research and utilising a single case study strategy, this study examines online social gambling and real money gambling marketing communication practices as well as offers some insights into the development and implementation of effective marketing communication programmes. In contrast to existing studies, the paper, in part, proposes integrative and higher levels of marketing communication programmes between online social gambling and real money gambling environments.

Perception of Formant Transition Cues to Place of Articulation in Children With Language Impairments

1993 ◽  
Vol 36 (6) ◽  
pp. 1286-1299 ◽  
Author(s):  
Joan E. Sussman
Keyword(s):  
Working Memory ◽  
Language Learning ◽  
Left Hemisphere ◽  
Language Impairments ◽  
Phonetic Category ◽  
Language Abilities ◽  
Formant Transition ◽  
Place Of Articulation ◽  
Normal Language ◽  
Phonetic Categorization

Discrimination and phonetic identification abilities of 5- to 6-year-old children with language impairments were compared to those of 4-year-olds with normally developing language and to previous findings from 5- to 6-year-olds and adults for synthetic stimuli ranging from [ba] to da]. Results showed similar discrimination sensitivity to the second- and third-formant transition cues of stimuli by all children, with poorest sensitivity by the youngest. Phonetic categorization by children with language impairments was most different from the groups with normal language abilities, evidenced by a difference in the percent of tokens labeled as "BA" and by greater variability in labeling and in placement of phonetic category boundaries. Results support hypotheses by Gathercole and Baddeley (1990) suggesting that the phonological component of working memory may be disordered in children with language impairments. Results are also suggestive of specific difficulties with left-hemisphere processing associated with language learning rather than with problems related to sensitivity to formant transitions of the speech tokens.

scholarly journals Shame and Guilt in Christian Children: Interventions with Projective Techniques and Play Therapy

1994 ◽  
Vol 22 (4) ◽  
pp. 377-382 ◽  
Author(s):  
Nancy Stiehler Thurston
Keyword(s):  
Play Therapy ◽  
World View ◽  
Sunday School ◽  
Language Abilities ◽  
Projective Assessment ◽  
Theological Foundations ◽  
Shame And Guilt ◽  
God's Grace ◽  
Children’S Conceptions

Psychotherapy issues for religiously committed clients have been explored in several recent books and articles. While these works have focused on adults, little has been written on the therapy issues of religiously committed children. Emerging research suggests that children's conceptions of God are quite different than that of adults. Moreover, due to their concrete thinking, children often find it hard to grasp theological foundations to the Christian faith (e.g., salvation by grace) that adults typically assimilate into their world view. While children generally learn of God's grace and mercy in Sunday school, it has been found that some of them nonetheless struggle deeply with issues of guilt and shame. It has been well documented that children do not have the same cognitive and language abilities as adults, and therefore require considerably different modes of psychotherapy. For latency aged and younger children, play therapy is often the treatment of choice. This article will present a case study of a Christian child who participated in a projective assessment and play therapy for healing of shame and guilt issues.

Verbaal Communicatieve Vaardigheden Van Afasie-Patienten

1986 ◽  
Vol 24 ◽  
pp. 16-23
Author(s):  
Leo Blomert ◽  
Ch. Koster ◽  
H. van Mier ◽  
M-L. Kean
Keyword(s):  
Response Pattern ◽  
Language Disorders ◽  
Normal Subjects ◽  
Achievement Level ◽  
Language Abilities ◽  
Everyday Language ◽  
Verbal Behaviour ◽  
Fixed Structure ◽  
Communicative Abilities ◽  
Consistent Response

A test "Alledaagse Taalvaardigheidstest" (Everyday Language Abilities Test) was developed to measure the communicative abilities of patiens with language disorders. The test is composed of 15 everyday situations. These situations have a strong conven-tional character and a well-defined fixed structure. This was reflected in the very consistent response pattern given by 30 normal subjects used to standardise the test. A scoring system was designed with 2 separate scores; one for at least adequate communicative behaviour and one for conventional verbal behaviour. 17 Broca and 12 Wernicke aphasies were tested. Aphasies achieve a relatively high score for adequate communica-tive behaviour. This is relatively independent of their achievement level on a standard aphasia test. As to their conventional verbal behaviour Broca en Wernicke patients differ significantly from normals but not from each other. The ATT has obvious theoretical relevance. In addition the test can also be used as a diagnostic and therapy evaluative tool.

Sign in / Sign up

Export Citation Format

Share Document