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PubMed2001

A forkhead-domain gene is mutated in a severe speech and language disorder.

Individuals affected with developmental disorders of speech and language have substantial difficulty acquiring expressive and/or receptive language in the absence of any profound sensory or neurological impairment and despite adequate intelligence and opportunity. Although studies of twins consistently indicate that a significant genetic component is involved, most families segregating speech and language deficits show complex patterns of inheritance, and a gene that predisposes individuals to such disorders has not been identified. We have studied a unique three-generation pedigree, KE, in which a severe speech and language disorder is transmitted as an autosomal-dominant monogenic trait. Our previous work mapped the locus responsible, SPCH1, to a 5.6-cM interval of region 7q31 on chromosome 7 (ref. 5). We also identified an unrelated individual, CS, in whom speech and language impairment is associated with a chromosomal translocation involving the SPCH1 interval. Here we show that the gene FOXP2, which encodes a putative transcription factor containing a polyglutamine tract and a forkhead DNA-binding domain, is directly disrupted by the translocation breakpoint in CS. In addition, we identify a point mutation in affected members of the KE family that alters an invariant amino-acid residue in the forkhead domain. Our findings suggest that FOXP2 is involved in the developmental process that culminates in speech and language.

Amino Acid Sequence↗

PubMed1998

Localisation of a gene implicated in a severe speech and language disorder.

Between 2 and 5% of children who are otherwise unimpaired have significant difficulties in acquiring expressive and/or receptive language, despite adequate intelligence and opportunity. While twin studies indicate a significant role for genetic factors in developmental disorders of speech and language, the majority of families segregating such disorders show complex patterns of inheritance, and are thus not amenable for conventional linkage analysis. A rare exception is the KE family, a large three-generation pedigree in which approximately half of the members are affected with a severe speech and language disorder which appears to be transmitted as an autosomal dominant monogenic trait. This family has been widely publicised as suffering primarily from a defect in the use of grammatical suffixation rules, thus supposedly supporting the existence of genes specific to grammar. The phenotype, however, is broader in nature, with virtually every aspect of grammar and of language affected. In addition, affected members have a severe orofacial dyspraxia, and their speech is largely incomprehensible to the naive listener. We initiated a genome-wide search for linkage in the KE family and have identified a region on chromosome 7 which co-segregates with the speech and language disorder (maximum lod score = 6.62 at theta = 0.0), confirming autosomal dominant inheritance with full penetrance. Further analysis of microsatellites from within the region enabled us to fine map the locus responsible (designated SPCH1) to a 5.6-cM interval in 7q31, thus providing an important step towards its identification. Isolation of SPCH1 may offer the first insight into the molecular genetics of the developmental process that culminates in speech and language.

Chromosome Mapping↗

PubMed2002

Degree of language lateralization determines susceptibility to unilateral brain lesions.

Language is considered a function of either the left or, in exceptional cases, the right side of the brain. Functional imaging studies show, however, that in the general population a graded continuum from left hemispheric to right hemispheric language lateralization exists. To determine the functional relevance of lateralization differences, we suppressed language regions using transcranial magnetic stimulation (TMS) in healthy human subjects who differed in lateralization of language-related brain activation. Language disruption correlated with both the degree and side of lateralization. Subjects with weak lateralization (more bilaterality) were less affected by either left- or right-side TMS than were subjects with strong lateralization to one hemisphere. Thus in some people, language processing seems to be distributed evenly between the hemispheres, allowing for ready compensation after a unilateral lesion.

Adult↗

PubMed1983

The diagnosis of language disorders in bilingual children: surface-oriented and pragmatic criteria.

Certain pragmatic criteria were compared with traditionally employed surface-oriented criteria for the diagnosis of language disorders in bilingual children. Subjects were 10 Spanish/English bilingual children between 6 and 8 years of age who had been referred by bilingual classroom teachers for a special education evaluation. Spontaneous language samples were obtained from each child in both languages. The samples were transcribed and then examined for normalcy according to surface-oriented criteria and pragmatic criteria. The surface elements examined in both languages included morphological and syntactic structures. The pragmatic criteria included nonfluencies, revisions, delays, specificity of referential terms, abrupt topic shifts, inappropriate responses, and the need for multiple repetition of prompts. As expected, it was possible to demonstrate that the two sets of criteria identified different subgroups as language disordered. To test the accuracy of the disparate diagnoses, academic achievement was tested both before and after an average of 7 months of mainstreaming in essentially monolingual English classroom settings. Teacher ratings of English language development and socialization were also examined before and after the 7-month period. Results revealed that the pragmatic criteria were superior predictors of both achievement and teacher ratings. Traditional diagnostic criteria appear to need supplementation by pragmatic criteria.

Achievement↗

PubMed1989

The concurrent validity of the Minnesota Child Development Inventory as a measure of young children's language development.

The extent to which the Minnesota Child Development Inventory (MCDI), could be used to estimate levels of language development in 2-year-old children was examined. Fifty-seven children between 23 and 28 months were given the Sequenced Inventory of Communication Development (SICD), and at the same time a parent completed the MCDI. In addition the mean length of utterance (MLU) was obtained for each child from a spontaneous speech sample. The MCDI Expressive Language scale was found to be a strong predictor of both the SICD Expressive scale and MLU. The MCDI Comprehension-Conceptual scale, presumably a receptive language measure, was moderately correlated with the SICD Receptive scale; however, it was also strongly correlated with the expressive measures. These results demonstrated that the Expressive Language scale of the MCDI was a valid predictor of expressive language for 2-year-old children. The MCDI Comprehension-Conceptual scale appeared to assess both receptive and expressive language, thus complicating its interpretation.

Child Development↗

PubMed1990

Speech and language development after infant tracheostomy.

This study describes the speech/language development of 31 children who had been fitted with an endotracheal tube. Intubation in all cases occurred prior to 13 months of age and remained in situ for more than 3 months. These children were chosen from a pool of 130 potential subjects. Individuals diagnosed as having a primary neurological disorder, developmental delays, or mental retardation were excluded from the study. Demographic, birth, and medical factors that might also affect language outcome were documented. Standardized outcome measures were used to assess speech, language, and cognitive development of the children seen for testing. For the entire group of children, the overall measures of language functioning at follow-up were within normal limits and commensurate with cognitive ability. However, when a breakdown of results based on the children's ages was done, a clear pattern of language disability was noted in the expressive language of the oldest group of children tested. These findings raise questions about this group of children who were previously thought to develop speech and language skills normally.

Child↗

PubMed1977

Language and memory disorders following closed head trauma.

Patients who suffer closed head trauma may demonstrate communication disorders which have been variously described as aplasia, severe memory impairments, traumatic aphasia, or confusion. The memory and language skills of 14 patients who had suffered closed head trauma were documented after they regained ocnsciousness and at one-month intervals for four monts utilizing the Porch Index of Communicative Ability and the Wechsler Memory Scale. Results indicated that patients initially suffered both reduced memory and language skills. After four months, expressive and receptive language skills were grossly functional for conversational purposes, and all memory taskd with the exception of orientation skills were within normal limits. Significant improvement in both language and memory functioning most often occurred during the first month after regaining consciousness, although gradual improvement in both language and memory skills was noted beyond the one-month period. No significant correlations existed between the length of unconsciousness and the initial and final language and memory scores.

Adult↗

PubMed1983

Hemisphericity in aphasic language recovery.

A hemispheric time-sharing paradigm used to assess language lateralization was administered to eight Broca's aphasics and a matched normal control group. All normal speakers revealed the expected right-hand-only disruption (indicative of left hemispheric language lateralization) in finger-tapping rate during concurrent expressive and receptive language tasks. The aphasics, as a group, revealed symmetrical manual interference indicative of bilateral language representation. Three aphasics showed consistent right-hemisphere lateralization. Whereas all normal speakers had equivalent interference across expressive and receptive language tasks, the Broca's aphasics were more adversely affected during concurrent finger tapping and expressive performance. Aphasic lateralization profiles were found to be unrelated either to language proficiency measures (BDAE) or to the site/extent of cortical lesions derived from CAT scans.

Adult↗

PubMed1985

Development of print awareness in language-disordered preschoolers.

This study examined print awareness and related oral language abilities in language-disordered and normally developing preschoolers. Twenty subjects, ages 3:1 to 6:5 (years:months), were shown high frequency environmental print in four conditions varying in the amount of non-print information present in the print setting. They were asked to match the print to the object that it signified and to provide verbal labels for the same objects. Results indicated that normal-language children were responding meaningfully to print settings that contained reduced non-print cues while the language-disordered subjects were not. General language ability was correlated with print awareness, but knowledge of specific oral lexemes was not necessary for accurate print responses. Parent questionnaire data suggested that group differences did not result from differential prior experience with the print items. Results are discussed with reference to hypothesized relationships between oral and written language.

Awareness↗

PubMed1986

Conversational replies of children with specific language impairment.

Conversational replies were examined in two groups of children with comparable vocabularies and speech limited to single-word utterances: children with specific language impairment, ages 2:10 to 3:6 (years:months); and children, ages 1:5 to 1:11, who were developing language normally. In interactions with adults the language-impaired children produced a greater number and variety of replies to both questions and statements than the normal-language children. The findings suggest that language-impaired children can serve as responsive conversationalists when syntactic skill is not a factor and that comprehension, world knowledge, and/or experience with conversations permit considerable variability in conversational skill even within the same level of expressive language ability.

Child, Preschool↗

PubMed1989

Language skills of children with different preschool experiences.

This study examined the language at age 5 of socioeconomically disadvantaged children who had been randomly assigned at birth to a language-enriched day care program with a parent education component, a parent education program without a language-enriched day care, or no treatment. The interventions were administered between the ages of 3 months to 5 years. Language measures, reflecting children's ability to manipulate topics, as well as their structural complexity, semantic diversity, and general talkativeness were examined. The results showed that the disadvantaged children who attended the language-enriched day care program with the parent education component used a significantly greater proportion of high quality topic manipulation skills and less low quality topic manipulation skills during conversation than did children in the other two groups. The day care effect on high quality topic manipulation was present even after adjusting for children's intelligence and for the amount of community day care experience of the children in the parent education alone and control groups. No significant treatment differences were found for structural, semantic, and talkativeness measures. Implications of the result for early language intervention are discussed.

Child Day Care Centers↗

PubMed1990

Language learning in a prospective study of otitis media with effusion in the first two years of life.

We report cross-sectional findings on children's early experience with otitis media with effusion (OME) related to hearing over time and emerging receptive and expressive language skills on the Sequenced Inventory of Communication Development Scale (SICD). Tympanometry and otoscopy on the same day are combined to diagnose OME. Hearing from 6 to 12 months is significantly related to scores on the SICD beginning with receptive language at 12 months. At 18 and 24 months, both receptive and expressive language are significantly related to average hearing from 6 to 18 months. Better language is associated with better average hearing levels. These findings suggest that the relationship between OME and language is mediated by hearing. It remains to be seen whether these relationships persist as the children continue to develop language.

Child, Preschool↗

PubMed1991

Hypothesis-testing abilities of language-impaired children.

Hypothesis-testing abilities were assessed using a modification of the discrimination-learning paradigm employed by Nelson, Kamhi, and Apel (1987) that was designed to minimize the short-term memory demands of the task. Sixteen language-impaired and 16 normal-language children in kindergarten and first and second grades participated in the study. The language-impaired children solved significantly fewer problems than normal-language controls equated on cognitive level, but the two groups used similar hypothesis types to solve the problems. Type of verbal feedback provided during the hypothesis testing task (explicit vs. nonexplicit) did not significantly affect the performance of either group. These results are interpreted as indicating that language-impaired children demonstrate inefficient use of problem-solving strategies that cannot be attributed solely to memory difficulties. Issues surrounding the investigation of language-impaired children's cognitive abilities are discussed.

Child↗

PubMed1993

The performance of children with language-learning disabilities on two types of cognitive tasks.

The performance of children with language-learning disabilities on two types of cognitive tasks was compared to that of two groups without language-learning disabilities, one matched for mental age and the other for language (vocabulary) age. The first task, Concept Formation, measured one's ability to identify and state the rule for a concept about a set of colored geometric figures when shown instances and noninstances of the concept. The second task, Analysis Synthesis, required the identification and use of a solution key to solve an incomplete logic puzzle. Both tasks involved increases in complexity as additional items were administered. Results indicate that the children with language-learning disabilities performed at a level commensurate with the language-matched group on the Concept Formation task, and at a level commensurate with the mental-age matched group on the Analysis-Synthesis task. The implications of these findings for the nature of language-learning disabilities are discussed.

Adolescent↗

PubMed1996

Why do children with specific language impairment name pictures more slowly than their peers?

To examine the role of different cognitive processes in accounting for the slower naming times of children with specific language impairment (SLI) relative to peers with no language impairment (NLI), three tasks designed to stress different types of processing, were administered: naming pictures with the signal to respond presented at various delay intervals, naming following different durations of exposure to identical and unrelated primes, and vocally responding to nonlinguistic stimuli. Children with SLI, aged 4 to 9.5 years, were significantly slower than their NLI age peers on naming and on responding to nonlinguistic stimuli, but the effect of delay interval before naming and of duration of prime exposure before naming was similar for both groups. Results suggested that speed of naming is related to the slower nonlinguistic response processing of children with SLI and not to speed of their linguistic or perceptual processing. To examine differences in processing that might relate to pattern of language performance we examined responses of two subgroups of SLI. The subgroup of children whose language problems involved expressive but not receptive skills was not significantly slower than their NLI peers. The children whose problems involved both expressive and receptive language were significantly slower, but this was influenced by age. Findings are discussed in terms of language performance, age, task variables, and a generalized rate-limiting factor.

Child↗

PubMed1999

Prevalence of speech delay in 6-year-old children and comorbidity with language impairment.

We estimate the prevalence of speech delay (L.D. Shriberg, D. Austin, B. A. Lewis, J. L. McSweeny, & D. L. Wilson, 1997b) in the United States on the basis of findings from a demographically representative population subsample of 1,328 monolingual English-speaking 6-year-old children. All children's speech and language had been previously assessed in the "Epidemiology of Specific Language Impairment" project (see J. B. Tomblin et al., 1997), which screened 7,218 children in stratified cluster samples within 3 population centers in the upper Midwest. To assess articulation, the Word Articulation subtest of the Test of Language Development-2: Primary (Newcomer & Hammill, 1988) was administered to each of the 1,328 children, and conversational speech samples were obtained for a subsample of 303 (23%) children. The 6 primary findings are as follows: (a) The prevalence of speech delay in 6-year-old children was 3.8%; (b) speech delay was approximately 1.5 times more prevalent in boys (4.5%) than girls (3.1%); (c) cross-tabulations by sex, residential strata, and racial/cultural backgrounds yielded prevalence rates for speech delay ranging from 0% to approximately 9%; (d) comorbidity of speech delay and language impairment was 1.3%, 0.51% with Specific Language Impairment (SLI); (e) approximately 11-15% of children with persisting speech delay had SLI; and (f) approximately 5-8% of children with persisting SLI had speech delay. Discussion includes implications of findings for speech-language phenotyping in genetics studies.

Child↗

PubMed2000

Otitis media, fluctuant hearing loss, and speech-language outcomes: a preliminary structural equation model.

The goals of this study were to estimate the risk for lowered speech-language outcomes associated with early recurrent otitis media with effusion (OME) with and without hearing loss and to develop a preliminary descriptive-explanatory model for the findings. Three statistical approaches were used to assess associations among OME, hearing loss, and speech-language outcomes. Participants were a subsample of 70 children followed prospectively in the Dallas Cooperative Project on Early Hearing and Language Development (Friel-Patti & Finitzo, 1990). Findings indicated that hearing levels at 12-18 months were significantly associated with speech delay and low language outcomes at 3 years of age. The risk for subclinical or clinical speech delay at 3 years of age was 2% for children with less than 20 dB average hearing levels at 12-18 months and 33% for children with greater than 20 dB average hearing levels at 12-18 months. A structural equation model (Jöreskog & Sörbom, 1993) indicated that the significant and substantial effects of hearing levels at 12-18 months on speech status at 3 years were significantly mediated by language status at 3 years. Discussion includes implications of these findings for alternative speech perception models linking early OME and hearing loss to later speech-language disorder.

Child, Preschool↗

PubMed2000

Nonword repetition performance in school-age children with and without language impairment.

This study examined nonword repetition performance in a population-based sample of school-age children. A total of 581 second graders who were participating in a longitudinal, epidemiologic investigation of specific language impairment (SLI) were administered the Nonword Repetition Task (NRT) developed by Dollaghan & Campbell (1998). Performance was examined according to second-grade diagnostic category, presence/absence of language impairment, and treatment status. Results indicated that children with language impairment, as well as those in intervention, exhibited deficient nonword repetition skills compared to normal language controls. Findings also confirmed that the NRT is a culturally nonbiased measure of language processing. Results from likelihood ratio analyses indicated that NRT performance, though not sufficient on its own, may provide a useful index to assist in ruling in or ruling out language disorder.

Child↗