1/11. Syntax PAL: a system to improve the written syntax of language-impaired users.In our work with children who have difficulty with spelling or with the physical action of writing, we have found a number of children who also have difficulty with written grammar. As an extension of PAL, an existing predictive spelling and typing aid, we have developed a writing aid to help these children with sentence construction. The enhanced system uses the syntax of the initial part of a sentence to enhance the position in the prediction list of syntactically correct words. It was postulated that this would discourage the use of incorrect syntax and encourage the use of correct syntax. In two case studies, the use of Syntax PAL significantly improved the quality and quantity of one child's written output, but had little effect on the other child's work.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/11. Support for linkage of autism and specific language impairment to 7q3 from two chromosome rearrangements involving band 7q31.Childhood autism is characterised by impairments in communication and reciprocal social interaction together with restricted/stereotyped interests, which are evident before 3 years of age. Specific developmental disorders of speech and language (SDDSL) are characterised by impairment in the development of expressive and/or receptive language skills which is not associated with intellectual, sensory, physical, or neurological impairment. family and twin studies indicate a substantial genetic component in the aetiology of both disorders. They also reveal increased rates of SDDSL in relatives of autistic individuals, suggesting that this phenotype can represent one manifestation of the genetic liability for autism. Modelling of the recurrence risk for autism and milder phenotypes, such as SDDSL, suggest that three or four epistatic loci may be aetiologically involved. A recently published linkage study of an exceptional family with an apparently dominantly inherited SDDSL implicated chromosome band 7q31 as the site of the putative susceptibility locus (SPCH1). This region of chromosome 7 also shows strong linkage in multiplex families with autism. We present two individuals (one has autism, the other SDDSL) with different, apparently balanced chromosome rearrangements involving a breakpoint at 7q31.3. fluorescence in situ hybridisation was used to localise the breakpoints to an approximately 1 cM interval between CFTR and D7S643. Our findings may be of interest and relevance to the genetic aetiology of autism, and helpful in the search for susceptibility loci for SDDSL and autism. Am. J. Med. Genet. (Neuropsychiatr. Genet. ) 96:228-234, 2000.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/11. Monozygotic boys with fragile x syndrome.Monozygotic twin boys with fragile x syndrome underwent thorough genetic, psychiatric, neurological, and language evaluations at 10 years of age. They both demonstrated physical features, speech and language difficulties, social problems, and attentional deficits that characterize the behavioural phenotype of fragile x syndrome. Despite identical genetic constitutions, there were important developmental and behavioural heterogeneities. Twin A showed less social interaction and symbolic play and more speech and language dysfunction than twin B. Twin A also had significantly larger caudate volumes. It is suggested that the Xq27.3 anomaly may not be sufficient to account for all the behavioural phenotypic and neuroanatomical features of fragile x syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/11. Establishing joint visual attention and pointing in autistic children with no functional language.Joint visual attention is defined as looking where someone else is looking. The purpose of this study was to examine the conditions for establishing joint visual attention in autistic children who have no functional speech. An experimenter, sitting facing the child, looked at one of six pictures near the child. Analysis showed that joint visual attention to stimuli behind the child and therefore outside of the visual field occurred at a higher rate when the visual angle between the stimuli was about 60 degrees. Spontaneous pointing at the target object increased with training which included feedback and physical guidance. These results are discussed in terms of the effects of environmental variables and perceptual mechanisms on the emergence of joint visual attention in autistic children. The possibility of using an adult's social cues and expanding the child's visual field as a remedial procedure is also addressed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/11. speech and language findings in a chronic hemodialysis patient: a case report.The speech and language findings in one patient who underwent chronic hemodialysis therapy are presented. The patient's degenerating physical status was first signaled by stutteringlike repetitions. The speech diagnosis is mixed dysarthria, apraxia of speech, and aphasia. Clinical implications are discussed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/11. A child with noonan syndrome.The speech, language, and hearing characteristics of a child with noonan syndrome are described in this report. The physical characteristics of this disorder are presented. Also included is a description of a pragmatic language analysis completed to provide a description of social-linguistic communication and a basis for treatment.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/11. Developmental dyspraxia in a family with X-linked mental retardation (Renpenning syndrome).This paper describes the existence of severe developmental speech dyspraxia in a member of a family that is typical of other reports of X-linked mental retardation without physical abnormality (Renpenning syndrome). Other family members have evidence of motor or speech dyspraxia. Other reports of X-linked mental retardation have mentioned "verbal disability", which suggests that developmental dyspraxia may be quite common in these families. Developmental dyspraxia of speech is amenable to specific types of intervention: after two years of such intervention our patient's adaptive skills reflect his normal non-verbal intellectual ability, despite persistent speech deficits. This functional improvement shows how important it is to identify dyspraxia in young children, who may otherwise be labelled mentally retarded.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/11. Developmental language disability as a consequence of prenatal exposure to ethanol.Two pre-school-aged patients with a history of prenatal exposure to ethanol had abnormal head size and developmental delay. Both children were strikingly similar in physical appearance, behavior, and cognitive dysfunction. Facial features were typical of fetal alcohol syndrome. head circumference greater than 97th percentile without hydrocephalus and no evidence of prenatal or postnatal growth failure were unusual for ethanol teratogenicity. Each child had a similar pattern of verbal and behavioral dysfunctions characterized by (1) marked hypervigilence, (2) distractability, and (3) cognitive confusion manifested as anxiety and behavioral disorganization. It is suggested that a history of prenatal exposure to ethanol associated with (1) large head circumference, (2) facial features of fetal alcohol syndrome, and (3) early developmental delay, particularly in language acquisition, and impaired modulation of attention and arousal may represent a possible new effect of alcohol teratogenicity.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/11. Successful use of facilitated communication with an oral child.A 6 1/2-year-old child's oral and spelled utterances were compared over a 3-month period as he was trained to use Facilitated communication (FC), a method of augmentative and alternative communication. The child's language with FC was significantly better than his oral language in length of utterances, novelty of utterances, and syntactic complexity. His language with FC also contained more function words and over time was more intelligible and required less verbal scaffolding than his oral communication. Evidence that he was authoring his own messages during his facilitated spelling was found in his idiosyncratic use of language and his ability to convey verifiable information that was unknown to the facilitator. The strongest evidence came later with his ability to type messages without physical support. The results suggest the potential for using FC with children who have some functional oral skills but cannot express themselves fully in the oral modality. The method can serve as a means of investigating language potential and as a transition to literacy and independent typed communication.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/11. Cardio-facio-cutaneous (CFC) syndrome: neurological features in two children.Cardio-facio-cutaneous (CFC) syndrome consists of heart defects, a characteristic facial appearance, ectodermal abnormalities, growth retardation and developmental delay. The authors report two children with this condition, drawing particular attention to the neurological manifestations. The neurological features are neuro-opthalmological findings such as strabismus, ptosis and nystagmus, cortical atrophy, ventriculomegaly, mental retardation, seizures and hypotonia. These manifestations may allow differentiation of CFC from noonan syndrome, which shares many of the physical features, but not these neurological features.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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