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1.
Dorothy V. M. Bishop 《Philosophical transactions of the Royal Society of London. Series B, Biological sciences》2014,369(1634)
Many children with specific language impairment (SLI) have persisting problems in the correct use of verb tense, but there has been disagreement as to the underlying reason. When we take into account studies using receptive as well as expressive language tasks, the data suggest that the difficulty for children with SLI is in knowing when to inflect verbs for tense, rather than how to do so. This is perhaps not surprising when we consider that tense does not have a transparent semantic interpretation, but depends on complex relationships between inflections and hierarchically organized clauses. An explanation in terms of syntactic limitations contrasts with a popular morpho-phonological account, the Words and Rules model. This model, which attributes problems to difficulties with applying a rule to generate regular inflected forms, has been widely applied to adult-acquired disorders. There are striking similarities in the pattern of errors in adults with anterior aphasia and children with SLI, suggesting that impairments in appreciation of when to mark tense may apply to acquired as well as developmental disorders. 相似文献
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Bishop DV 《Philosophical transactions of the Royal Society of London. Series B, Biological sciences》2001,356(1407):369-380
Specific language impairment (SLI) is the term used to refer to unexplained difficulties in language acquisition in children. Over the past decade, there has been rapid growth of evidence indicating that genes play an important part in the aetiology of SLI. However, further progress in elucidating the role of genes in causing SLI is limited by our lack of understanding of the phenotype. Studies to date have been hampered by the fact that we do not know whether SLI should be treated as a discrete disorder or a continuous variable, let alone which measures should be used to identify cases, or how many subtypes there are. Recent research suggests that theoretically motivated measures of underlying processes may be better than conventional clinical diagnoses for identifying aetiologically distinct types of language impairment. There has been a tendency for researchers to embrace parsimony and look for a single cause of SLI-or in any event, to identify different subtypes, each with a different single cause. Research is reviewed that suggests that may not be a fruitful approach to SLI, and that an approach in terms of multiple risk and protective factors, which is widely adopted in medicine, is more realistic. 相似文献
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Perception and discrimination of auditory and speech stimuli in children aged 7-9 years with either receptive (n=6) or expressive (n=5) type of special language impairment and 7 healthy age-matched controls was investigated using evoked potential technique. The measurements were performed with a 32-channel Neuroscan electroencephalographic system. Two types of stimuli were applied, pure tones (1 kHz and 2 kHz) and double syllabi consisting of one consonant and one vocal characteristic of Croatian language. The stimuli were presented in an oddball paradigm, requiring a conscious reaction for the subjects. Latencies and amplitudes of P1, N1, P2, N2, P3, N4, and SW waves were analized, as well as the reaction time and number of responses. There were found no statistically significant difference between children with special language impairment and the control group in average response time and number of responses to tone burst or double syllable. Analysis of variance of all used variables showed a statistically significant difference in P3 and Sw wave latencies after double syllable stimulation, P3 and N4 waves latencies after target stimulation, P2 and Sw wave amplitude; and in N1 wave amplitude after pure tone stimulation. Our study showed that children with speech and language disorder take longer time to perceive and discriminate between either tonal or speech auditory stimuli than children with typical speech and language development. 相似文献
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Background
The extraordinarily high incidence of grammatical language impairments in developmental disorders suggests that this uniquely human cognitive function is “fragile”. Yet our understanding of the neurobiology of grammatical impairments is limited. Furthermore, there is no “gold-standard” to identify grammatical impairments and routine screening is not undertaken. An accurate screening test to identify grammatical abilities would serve the research, health and education communities, further our understanding of developmental disorders, and identify children who need remediation, many of whom are currently un-diagnosed. A potential realistic screening tool that could be widely administered is the Grammar and Phonology Screening (GAPS) test – a 10 minute test that can be administered by professionals and non-professionals alike. Here we provide a further step in evaluating the validity and accuracy (sensitivity and specificity) of the GAPS test in identifying children who have Specific Language Impairment (SLI).Methods and Findings
We tested three groups of children; two groups aged 3;6–6:6, a typically developing (n = 30) group, and a group diagnosed with SLI: (n = 11) (Young (Y)-SLI), and a further group aged 6;9–8;11 with SLI (Older (O)-SLI) (n = 10) who were above the test age norms. We employed a battery of language assessments including the GAPS test to assess the children''s language abilities. For Y-SLI children, analyses revealed a sensitivity and specificity at the 5th and 10th percentile of 1.00 and 0.98, respectively, and for O-SLI children at the 10th and 15th percentile .83 and .90, respectively.Conclusions
The findings reveal that the GAPS is highly accurate in identifying impaired vs. non-impaired children up to 6;8 years, and has moderate-to-high accuracy up to 9 years. The results indicate that GAPS is a realistic tool for the early identification of grammatical abilities and impairment in young children. A larger investigation is warranted in children with SLI and other developmental disorders. 相似文献6.
Alexander Rudov Marco Bruno Luigi Rocchi Augusto Accorsi Giorgio Spada Antonio Domenico Procopio Fabiola Olivieri Maria Rita Rippo Maria Cristina Albertini 《Epigenetics》2013,8(10):1023-1029
Disorders of human communication abilities can be classified into speech and language disorders. Speech disorders (e.g., dyspraxia) affect the sound generation and sequencing, while language disorders (e.g., dyslexia and specific language impairment, or SLI) are deficits in the encoding and decoding of language according to its rules (reading, spelling, grammar). The diagnosis of such disorders is often complicated, especially when a patient presents more than one disorder at the same time. The present review focuses on these challenges. We have combined data available from the literature with an in silico approach in an attempt to identify putative miRNAs that may have a key role in dyspraxia, dyslexia and SLI. We suggest the use of new miRNAs, which could have an important impact on the three diseases. Further, we relate those miRNAs to the axon guidance pathway and discuss possible interactions and the role of likely deregulated proteins. In addition, we describe potential differences in expressional deregulation and its role in the improvement of diagnosis. We encourage experimental investigations to test the data obtained in silico. 相似文献
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A major susceptibility locus for specific language impairment is located on 13q21 总被引:16,自引:0,他引:16
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Bartlett CW Flax JF Logue MW Vieland VJ Bassett AS Tallal P Brzustowicz LM 《American journal of human genetics》2002,71(1):45-55
Children who fail to develop language normally-in the absence of explanatory factors such as neurological disorders, hearing impairment, or lack of adequate opportunity-are clinically described as having specific language impairment (SLI). SLI has a prevalence of approximately 7% in children entering school and is associated with later difficulties in learning to read. Research indicates that genetic factors are important in the etiology of SLI. Studies have consistently demonstrated that SLI aggregates in families. Increased monozygotic versus dizygotic twin concordance rates indicate that heredity, not just shared environment, is the cause of the familial clustering. We have collected five pedigrees of Celtic ancestry that segregate SLI, and we have conducted genomewide categorical linkage analysis, using model-based LOD score techniques. Analysis was conducted under both dominant and recessive models by use of three phenotypic classifications: clinical diagnosis, language impairment (spoken language quotient <85) and reading discrepancy (nonverbal IQ minus non-word reading >15). Chromosome 13 yielded a maximum multipoint LOD score of 3.92 under the recessive reading discrepancy model. Simulation to correct for multiple models and multiple phenotypes indicated that the genomewide empirical P value is <.01. As an alternative measure, we also computed the posterior probability of linkage (PPL), obtaining a PPL of 53% in the same region. One other genomic region yielded suggestive results on chromosome 2 (multipoint LOD score 2.86, genomic P value <.06 under the recessive language impairment model). Our findings underscore the utility of traditional LOD-score-based methods in finding genes for complex diseases, specifically, SLI. 相似文献
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FOXP2 is not a major susceptibility gene for autism or specific language impairment 总被引:8,自引:0,他引:8
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Newbury DF Bonora E Lamb JA Fisher SE Lai CS Baird G Jannoun L Slonims V Stott CM Merricks MJ Bolton PF Bailey AJ Monaco AP;International Molecular Genetic Study of Autism Consortium 《American journal of human genetics》2002,70(5):1318-1327
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Association of specific language impairment (SLI) to the region of 7q31 总被引:16,自引:0,他引:16
O'Brien EK Zhang X Nishimura C Tomblin JB Murray JC 《American journal of human genetics》2003,72(6):1536-1543
FOXP2 (forkhead box P2) was the first gene characterized in which a mutation affects human speech and language abilities. A common developmental language disorder, specific language impairment (SLI), affects 6%-7% of children with normal nonverbal intelligence and has evidence of a genetic basis in familial and twin studies. FOXP2 is located on chromosome 7q31, and studies of other disorders with speech and language impairment, including autism, have found linkage to this region. In the present study, samples from children with SLI and their family members were used to study linkage and association of SLI to markers within and around FOXP2, and samples from 96 probands with SLI were directly sequenced for the mutation in exon 14 of FOXP2. No mutations were found in exon 14 of FOXP2, but strong association was found to a marker within the CFTR gene and another marker on 7q31, D7S3052, both adjacent to FOXP2, suggesting that genetic factors for regulation of common language impairment reside in the vicinity of FOXP2. 相似文献
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Friederici AD 《Neuron》2006,52(6):941-952
The neural correlates of early language development and language impairment are described, with the adult language-related brain systems as a target model. Electrophysiological and hemodynamic studies indicate that language functions to be installed in the child's brain are similar to those of adults, with lateralization being present at birth, phonological processes during the first months, semantic processes at 12 months, and syntactic processes around 30 months. These findings support the view that the brain basis of language develops continuously over time. Discontinuities are observed in children with language impairment. Here, the observed functional abnormalities are accompanied by structural abnormalities in inferior frontal and temporal brain regions. 相似文献
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Bartlett CW Flax JF Logue MW Smith BJ Vieland VJ Tallal P Brzustowicz LM 《Human heredity》2004,57(1):10-20
Specific language impairment is a neurodevelopmental disorder characterized by impairments essentially restricted to the domain of language and language learning skills. This contrasts with autism, which is a pervasive developmental disorder defined by multiple impairments in language, social reciprocity, narrow interests and/or repetitive behaviors. Genetic linkage studies and family data suggest that the two disorders may have genetic components in common. Two samples, from Canada and the US, selected for specific language impairment were genotyped at loci where such common genes are likely to reside. Significant evidence for linkage was previously observed at chromosome 13q21 in our Canadian sample (HLOD 3.56) and was confirmed in our US sample (HLOD 2.61). Using the posterior probability of linkage (PPL) to combine evidence for linkage across the two samples yielded a PPL over 92%. Two additional loci on chromosome 2 and 7 showed weak evidence for linkage. However, a marker in the cystic fibrosis transmembrane conductance regulator (7q31) showed evidence for association to SLI, confirming results from another group (O'Brien et al. 2003). Our results indicate that using samples selected for components of the autism phenotype may be a useful adjunct to autism genetics. 相似文献
13.
Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairment 总被引:6,自引:0,他引:6
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SLI Consortium 《American journal of human genetics》2004,74(6):1225-1238
Specific language impairment (SLI) is defined as an unexplained failure to acquire normal language skills despite adequate intelligence and opportunity. We have reported elsewhere a full-genome scan in 98 nuclear families affected by this disorder, with the use of three quantitative traits of language ability (the expressive and receptive tests of the Clinical Evaluation of Language Fundamentals and a test of nonsense word repetition). This screen implicated two quantitative trait loci, one on chromosome 16q (SLI1) and a second on chromosome 19q (SLI2). However, a second independent genome screen performed by another group, with the use of parametric linkage analyses in extended pedigrees, found little evidence for the involvement of either of these regions in SLI. To investigate these loci further, we have collected a second sample, consisting of 86 families (367 individuals, 174 independent sib pairs), all with probands whose language skills are 1.5 SD below the mean for their age. Haseman-Elston linkage analysis resulted in a maximum LOD score (MLS) of 2.84 on chromosome 16 and an MLS of 2.31 on chromosome 19, both of which represent significant linkage at the 2% level. Amalgamation of the wave 2 sample with the cohort used for the genome screen generated a total of 184 families (840 individuals, 393 independent sib pairs). Analysis of linkage within this pooled group strengthened the evidence for linkage at SLI1 and yielded a highly significant LOD score (MLS = 7.46, interval empirical P<.0004). Furthermore, linkage at the same locus was also demonstrated to three reading-related measures (basic reading [MLS = 1.49], spelling [MLS = 2.67], and reading comprehension [MLS = 1.99] subtests of the Wechsler Objectives Reading Dimensions). 相似文献
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Pentzos Daponte A. Vienna A. Brant L. Hauser G. 《International Journal of Anthropology》2004,19(4):289-295
In 14141 male and 14141 female Greek children and adolescents ranging in age between seven and fifteen years the presence
of cheek dimples was investigated. Neither sex (12.6% in both female and males) nor side differences when expressed unilaterally
were observed. There was however a significant increase of dimples with age as well as significantly higher numbers of asymmetric
than symmetric expressions in all age groups.
With respect to these observations hypotheses of origin of cheek dimples and related effects of age are discussed. 相似文献
15.
Villanueva P Jara L Palomino H 《Human biology; an international record of research》2010,82(4):395-408
Specific language impairment (SLI) is a developmental language disorder that occurs for no known reason. The disorder affects 2-8% of children. Some scientific evidence suggests that genetic factors are implicated in the etiology of SLI. The disorder is genetically complex. Two novel loci, SLI1 on chromosome 16q24 (MIM 606711) and SLI2 on chromosome 19q13 (MIM 606712), have been found to be highly correlated with SLI. Four genes have been identified as susceptibility genes. SLI occurs at an unusually elevated incidence (35%) among the population of Robinson Crusoe Island (Chile), which also has a high consanguinity rate. This finding supports the influence of genetic mechanisms in the transmission of SLI based on a founder effect. To investigate further the genetic involvement in this population, we collected blood samples from 115 islanders from 13 families with a language-impaired proband and from 18 families with a normal-language proband. The analysis of micro satellite marker D16S515, located in locus SLI1, demonstrated that the 230-bp allele was correlated with SLI and that the 232-bp allele was correlated with normal language development. The domain containing the D16S515 marker, therefore, may play a role in language development. 相似文献
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Chlo? R. Marshall 《Philosophical transactions of the Royal Society of London. Series B, Biological sciences》2014,369(1634)
This review focuses on the errors that children with developmental language impairments make on three types of word production tasks: lexical retrieval, the elicitation of derivationally complex forms and the repetition of non-sense forms. The studies discussed in this review come principally from children with specific language impairment, and from children who are English-speakers or deaf users of British sign language. It is argued that models of word production need to be able to account for the data presented here, and need to have explanatory power across both modalities (i.e. speech and sign). 相似文献
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Kate Nation 《Philosophical transactions of the Royal Society of London. Series B, Biological sciences》2014,369(1634)
Lexical skills are a crucial component of language comprehension and production. This paper reviews evidence for lexical-level deficits in children and young people with developmental language impairment (LI). Across a range of tasks, LI is associated with reduced vocabulary knowledge in terms of both breadth and depth and difficulty with learning and retaining new words; evidence is emerging from on-line tasks to suggest that low levels of language skill are associated with differences in lexical competition in spoken word recognition. The role of lexical deficits in understanding the nature of LI is also discussed. 相似文献
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