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PubMed2006

Singing mice, songbirds, and more: models for FOXP2 function and dysfunction in human speech and language.

In 2001, a point mutation in the forkhead box P2 (FOXP2) coding sequence was identified as the basis of an inherited speech and language disorder suffered by members of the family known as "KE." This mini-symposium review focuses on recent findings and research-in-progress, primarily from five laboratories. Each aims at capitalizing on the FOXP2 discovery to build a neurobiological bridge between molecule and phenotype. Below, we describe genetic through behavioral techniques used currently to investigate FoxP2 in birds, rodents, and humans for discovery of the neural bases of vocal learning and language.

Animals↗
PubMed2003

Speech and language therapy interventions for children with primary speech and language delay or disorder.

BACKGROUND: It is thought that approximately 6% of children have speech and language difficulties of which the majority will not have any other significant developmental difficulties. Whilst most children's difficulties resolve, children whose difficulties persist into primary school may have long-term problems concerning literacy, socialisation, behaviour and school attainment. OBJECTIVES: To examine the effectiveness of speech and language interventions for children with primary speech and language delay/disorder. SEARCH STRATEGY: The following databases were searched: The Cochrane Controlled Trials Register (Cochrane Library, CENTRAL: 2002/3), CINAHL (1982 - July 2002), EMBASE (1980 - Sept Week 4 2002), ERIC (1965 - 2002), MEDLINE (1966 - Sept Week 3 2002), PsycINFO (1872 - 2002/10 Week 2), The National Research Register (2002/3). In addition to this references were taken from reviews of the literature and reference lists from articles. SELECTION CRITERIA: The review considered randomised controlled trials of speech and language therapy interventions for children or adolescents with primary speech and language delay/disorder. DATA COLLECTION AND ANALYSIS: Titles and abstracts were identified and assessed for relevance, before the full text version was obtained of all potentially relevant articles. The data were categorised depending on the nature of the control group and considered in terms of the effects of intervention on expressive and receptive phonology, syntax and vocabulary. The outcomes used in the analysis were dependent on the focus of the study with only the primary effects of therapy being considered in this review. MAIN RESULTS: The results of twenty-five studies were used in the meta-analysis. The results suggest that speech and language therapy is effective for children with phonological (SMD=0.44, 95%CI: 0.01,0.86) or vocabulary difficulties (SMD=0.89, 95%CI: 0.21,1.56), but that there is less evidence that interventions are effective for children with receptive difficulties (SMD=-0.04, 95%CI: -0.64,0.56). Mixed findings were found concerning the effectiveness of expressive syntax interventions (n=233; SMD=1.02, 95%CI: 0.04-2.01). No significant differences were shown between clinician administered intervention and intervention implemented by trained parents, and studies did not show a difference between the effects of group and individual interventions (SMD=0.01, 95%CI: -0.26,1.17). The use of normal language peers in therapy was shown to have a positive effect on therapy outcome (SMD=2.29, 95%CI: 1.11,3.48). REVIEWER'S CONCLUSIONS: The review shows that overall there is a positive effect of speech and language therapy interventions for children with expressive phonological and expressive vocabulary difficulties. The evidence for expressive syntax difficulties is more mixed, and there is a need for further research to investigate intervention for receptive language difficulties. There is a large degree of heterogeneity in the results, and the sources of this need to be investigated.

Adolescent↗
PubMed2005

[Speech therapy intervention in comprehension disorders].

INTRODUCTION: Most of the studies conducted on the subject of language pathologies have focused on the expressive aspect, but there is now generalised agreement on considering that most language disorders stem essentially from problems in the processes allowing input of verbal information provided by the environment. DEVELOPMENT: We analyse the processes that take place in a child's mind when faced with verbal production and the communicative intentions of others, in an attempt to understand the nature of their difficulties. CONCLUSIONS: The comprehension of oral language brings into play a series of extremely complex processes that combine different domains of higher mental functioning. Speech therapy intervention must ensure it analyses the true extent of the verbal comprehension of each child and attempt to achieve a representation of the levels of alteration involved in the faulty understanding.

Auditory Perceptual Disorders↗
PubMed2001

[Language and learning disorders in epilepsy with continuous spike-waves during slow sleep].

Efficacy of antiepileptic drugs in children with epilepsy is usually evaluated on the basis of reduction in seizure frequency. However, in a number of cases, the effect of a drug in reducing EEG paroxysmal activity should be considered. This applies particularly to Landau-Kleffner syndrome and to the syndrome of continuous spike-waves during slow sleep. In developmental language disorders, EEG paroxysmal activity is present in almost 30% of the cases. Paroxysmal abnormalities are usually less frequent than what is observed in epilepsy with continuous spike-waves during slow sleep. Pathogenesis remains unknown and the relationship between EEG evolution and language improvement is not as clear as in Landau-Kleffner syndrome.

Adolescent↗
PubMed1986

Neurodevelopmental outcome and school performance of very-low-birth-weight infants at 8 years of age.

The neurodevelopmental outcome and school performance of 50 appropriate for gestational age (AGA) and 33 small for gestational age (SGA) very-low-birth-weight (VLBW) infants, compared to a control group (41 Term infants) were assessed at 8 years of age. The incidence of major handicaps among AGA and SGA/VLBW infants respectively, was 16% and 6%. No major handicap was found in the control group. The incidence of neurodevelopmental abnormalities (NDA) among AGA's (40%) and SGA's (57.6%) compared with the control group (31.7%) was found to be significantly higher. School failure occurred more frequently among VLBW infants (22.9%) and was related in children with NDA--and more particularly among AGA's--to the presence of language disorders or associated NDA. Evaluation of the consequences of NDA and school problems for later academic and professional achievement now requires further follow-up studies.

Achievement↗
PubMed1979

Process /prá/,ses/n: the action of moving forward progressively from one point to another on the way to completion.

A rationale for the application of a stage process model for the language-disordered child is presented. The major behaviors of the communicative system (pragmatic-semantic-syntactic-phonological) are summarized and organized in stages from prelinguistic to the adult level. The article provides clinicians with guidelines, based on complexity, for the content and sequencing of communicative behaviors to be used in planning remedial programs.

Adolescent↗
PubMed1998

Neurodevelopmental dysfunction and specific learning disabilities in school-aged twins.

The frequency of the developmental dysfunction and specific learning disabilities were assessed in the retrospective study in the group of 56 school-aged twins. The relationships between genetic, perinatal and social factors and learning disability were also determined. It was found that 12.5% of twins had learning disabilities. The most common neurodevelopmental dysfunction were language disorders, poor graphomotor fluency and poor fine motor dexterity. It was also found that educational difficulty were associated with prematurity, low Apgar scores, neonatal complications and familial predisposition.

Adolescent↗
PubMed2005

FOXP2 and the neuroanatomy of speech and language.

That speech and language are innate capacities of the human brain has long been widely accepted, but only recently has an entry point into the genetic basis of these remarkable faculties been found. The discovery of a mutation in FOXP2 in a family with a speech and language disorder has enabled neuroscientists to trace the neural expression of this gene during embryological development, track the effects of this gene mutation on brain structure and function, and so begin to decipher that part of our neural inheritance that culminates in articulate speech.

Animals↗
PubMed1996

Progressive supranuclear palsy presenting with dynamic aphasia.

BACKGROUND: Progressive supranuclear palsy (PSP) is an akinetic-rigid syndrome of unknown aetiology which usually presents with a combination of unsteadiness, bradykinesia, and disordered eye movement. Speech often becomes dysarthric but language disorders are not well recognised. METHODS: Three patients with PSP (pathologically confirmed in two) are reported in which the presenting symptoms were those of difficulty with language output. RESULTS: Neuropsychological testing showed considerable impairment on a range of single word tasks which require active initiation and search strategies (letter and category fluency, sentence completion), and on tests of narrative language production. By contrast, naming from pictures and from verbal descriptions, and word and sentence comprehension were largely intact. The degree of semantic memory impairment was also slight. CONCLUSIONS: Relatively selective involvement of cognitive processes critical for planning and initiating language output may occur in some patients with PSP. This presentation resembles the phenomenon of "verbal adynamia" or "dynamic aphasia" seen in patients with frontal lobe damage. Although definite cortical changes were present at postmortem examination, it is likely that the neuropsychological deficits reflect functional frontal deafferentation secondary to interruption of frontostriatal feedback loops.

Aged↗
PubMed2003

[Semiology of language].

The evaluation of aphasic language disorders requires to analyse impairments and preserved abilities in order to promote specific rehabilitation devices. The main types of errors observed in aphasia are defined. The different methods for the assessment of expression, repetition and comprehension in oral and written modalities are presented. The interest to use list of words specially devoted to the analysis of writing and reading disturbances is underlined.

Humans↗
PubMed1998

Dementia of frontal type and dementias with subcortical gliosis.

The group of Frontotemporal dementias (FTD) is composed of non-Alzheimer forms of dementia characterized clinically by behavioural and personality change leading to apathy and mutism. The disorder is associated with a progressive atrophy of the frontal, anterior temporal and anterior parietal lobes of the brain with several types of underlying pathology. One type (frontal lobe degeneration) is characterized by a microvacuolar degeneration of the outer cortical laminae along with a mild and mainly subpial gliosis and a loss of nerve cells, mostly from layers II and III. Another type shows transcortical tissue cavitation and florid gliosis with neuronal degeneration characterized by the presence of tau and ubiquitin positive inclusion bodies and alpha beta-crystallin-positive ballooned neurones: such changes have been termed 'Pick-type histology', and form the basis for the modern definition of 'Pick's disease'. The aetiological relationship between these two histological types is presently unknown. Both histologies can be differently distributed topographically throughout the brain to produce syndromes of progressive language disorder, when affecting bitemporal lobes or the left hemisphere preferentially, or progressive apraxia when parietal and motor regions are involved. Either pathology can be combined with or overlaps with that of classical motor neurone disease to produce motor neurone disease dementia. The underlying cause of FTD is unknown but genetic factors are strongly implicated. About half of cases show a previous family history of a similar disorder. In several families bearing a FTD clinical and pathological phenotype, linkage to chromosome 17 has been established but the pathology of this group appears distinctive and its relation to other forms of FTD awaits further elucidation. It is still possible that the many clinical and pathological variants of FTD may reflect different phenotypic expressions of a particular genetic change(s) at a single locus on this chromosome.

Cerebral Cortex↗
PubMed1976

Normal and retarded children's understanding of semantic relations in different verbal contexts.

The effect of different semantic relations presented in different verbal contexts to language retarded and normal children at the one-and two-word stage of development was studied. No significant difference was found between the performance of mentally retarded language-disordered and normal children on the verbal comprehension task. Both groups of children performed best on the possessive, next on the agent-object, then actor-action, and poorest on the locative relations. Finally, nonsense, telegraphic, and expanded contexts did make a difference in the children's understandings with expanded being the best, telegraphic next, and nonsense contexts poorest. Theoretical and clinical implications are discussed.

Child↗
PubMedDate not supplied

[Periodic lateralised epileptiform discharges as a form of presentation of neurosyphilis].

INTRODUCTION: Neurosyphilis is a recognised cause of epileptic seizures, but its association with periodic lateralised epileptiform discharges (PLED) has been described only rarely, in spite of the fact that it gives rise to acute vascular lesions. CLINICAL CASE: We report the case of a male patient who was diagnosed as having meningovascular syphilis after the onset of tonic clonic epileptic seizures and PLED in the left frontotemporal region. The initial neurological exploration revealed a syndrome of confusion and mild mixed, but predominantly motor, dysphasia. In complementary tests, the most noteworthy features were positive luetic serology in the blood and in cerebrospinal fluid (CSF), which was confirmed by means of treponemic assays. The patient was treated with penicillin for two weeks. The study was completed with a magnetic resonance (MR) brain scan that showed a small left temporal infarction, which was the origin of the clinical and electrical convulsive activity. The patient s evolution was satisfactory, with an improvement in the language disorder, and the seizures were controlled after the administration of phenytoin. The control electroencephalogram (EEG) that was performed later only showed a slowing in the known injured area. CONCLUSIONS: PLED are an infrequent electroencephalographic pattern whose appearance has been linked with acute brain lesions, mainly with strokes, tumours and meningoencephalitis. When, exceptionally, they appear as a consequence of an ischemia secondary to meningovascular syphilis their significance, clinical features and prognosis do not differ from other causes of a cerebrovascular disease.

Alcoholism↗
PubMed1983

Subtypes of reading disability.

Subtypes of reading disability were studied through the application of cluster analysis. A battery of 23 measures of reading, language, auditory and visual processing, memory, perceptual organization, and visual-motor coordination was administered to 65 reading-disabled children. The primary clustering technique was the K-means iterative partitioning method which yielded three clusters that were subsequently found to be stable and reproducible. The clusters were characterized by the following: (1) a visual processing deficit; (2) a generalized language disorder; and (3) a minimal deficit subtype. These subgroups were consistent with findings from previous investigations of subtypes of reading disability. The quality of the clusters was assessed through a series of evaluation techniques developed specifically for this purpose and through a cluster analysis of randomly generated data drawn from a normal distribution with the same covariance matrix as the actual data. These analyses indicated that the clusters were relatively heterogeneous, and thus this typology may have limited clinical utility. It is possible that future investigations with more severely disabled readers may produce more homogeneous clusters.

Adolescent↗
PubMed1979

Communication therapy for the young adult.

Speech clinicians are often frustrated in their assessment and therapeutic management of a young adult with speech and language problems. Procedures for children with language disorders and aphasic adults are often inadequate for the adult who has communication impairments that cannot be attributed to aphasia. This case study presents an account of a 29-year-old woman who had cognitive, linguistic, and pragmatic difficulties. Both diagnosis and therapy were based on recent innovations in the areas of cognition, linguistics, and interpersonal relations. Results indicated that therapy was successful when the client was responsible for therapy activities, when therapy combined tutorial as well as experimential sessions, and when each session focused on the development of cognitive, linguistic, and interpersonal domains. Specific examples of diagnostic and therapeutic activities are presented as well as the rationale underlying the approach to therapy.

Adult↗
PubMed1995

Examining the empirical and linguistic bases of current theories of agrammatism.

This paper, which is organized into five sections, critically examines the empirical support and linguistic assumptions underlying several current accounts of language disturbances in Broca's aphasia. In the first section, following a discussion of the use of signal detection methodologies in investigating grammatical sensitivity, the reliability of results from two studies that suggest that Broca's aphasic patients are differentially sensitive to grammatical constraints is examined. It is concluded that in some cases, claims of intact sensitivity are not supported. The second section examines the empirical support for the hypothesis that agrammatic patients are unable to compute syntactic dependency relationships because of slowed lexical processing. It is argued that the statistical treatment of the data and interpretive problems associated with the lexical decision paradigm undermine this hypothesis. In the third section, some of the linguistic assumptions underlying criticisms of chain-disruption hypotheses are examined. It is concluded that these criticisms are based on arguable linguistic assumptions. In the fourth section, it is argued that the linguistic and empirical support for both earlier and revised versions of Grodzinsky's default interpretive strategy is lacking. Methodological and conceptual shortcomings arising from this proposal are also discussed. In the final section, potential relationships between disordered language and currently developing models of normal language processing are discussed.

Aphasia, Broca↗
PubMed1986

Children with autistic behavior in a self-contained unit in the public schools.

The diagnosis of "autism" has been used to encompass a heterogeneous group of children who may differ in etiology, clinical manifestations, prognosis, and needed treatment. This paper presents the results of a comprehensive evaluation, using strict diagnostic criteria, of 33 children comprising the entire population of a self-contained unit for "autistic" children in the public school system of Hillsborough County, Florida. Only five of the children fit the criteria for early infantile autism. Six were diagnosed as suffering from schizophrenia, two as atypical developmental disorders. Twelve of the 33 showed evidence of neurological or recognized genetic abnormality, five had specific developmental language disorders, and three were severely retarded, cause unknown. Of the 12 children with evidence of neurological disease, five had chromosome abnormalities evident on cytogenetic study, two had high serum Cux++, one had histidinemia, one had maternal rubella, and three had dyskinesis of unknown origin. The heterogeneous nature of this group underlines the need for comprehensive evaluation of the autistic syndrome.

Adolescent↗