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PubMed2001

Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.

Human chromosome 7q31 contains putative susceptibility loci for autism (AUTS1) and speech and language disorder (SPCH1). We report here the identification and characterization of a novel gene encoding cortactin-binding protein-2 (CORTBP2), which is located 45 kb telomeric to the cystic fibrosis transmembrane conductance regulator gene (CFTR) at 7q31.3. The full-length (5975-bp) gene was isolated and found to be composed of 23 exons encompassing 170 kb of DNA. In addition to being a positional candidate for AUTS1, CORTBP2 was expressed at highest levels in the brain, as shown by northern blot analysis. Subsequent mutation analysis of CORTBP2 in 90 autistic patients identified two polymorphisms, including a leucine to valine change caused by a T to G substitution in exon 15. However, comparison of allele frequencies between autistic and control populations (n=96) showed no significant difference, suggesting that this variant is not a susceptibility factor for autism.

Amino Acid Sequence↗
PubMed1994

Crossed aphasia. An update.

The aim of this article is to present an update of a rare but interesting problem: "crossed aphasia". This term indicates the presence of aphasia after unilateral cerebral lesion of the hemisphere ipsilateral to the patient's dominant hand. We report two cases, review the most relevant literature, and analyze clinical, neuroanatomical, and neurophysiological aspects, taking in consideration the various interpretations proposed to explain this unusual language disorder.

Aged↗
PubMed1996

Epileptic akinetic mutism: following temporal lobectomy for Rasmussen's syndrome.

A girl aged 9 years with Rasmussen's encephalitis previously treated by left temporal lobectomy suddenly developed prolonged attacks of extremely rapid respirations associated with poverty of body movements and greatly reduced facial movements with loss of speech. Her comprehension appeared intact and she responded to certain requests. Her eye gaze behaviour suggested a high degree of vigilance. The attacks would last from minutes to hours and were repeated up to a dozen times daily. In the context of the stress generated by the illness and other family problems the attacks had been mistaken for an hysterical elaboration. Their ictal nature was confirmed by EEG/video monitoring. Possible links with other developmental language disorders associated with epilepsy are discussed, including a model of autism.

Akinetic Mutism↗
PubMed1982

A code for assessing teaching skills of parents of developmentally disabled children.

The reliability of a code to measure teaching skills was assessed by using it to evaluate a behavioral training program for parents of developmentally disabled children. Twelve sets of parents participated in a program to give them the skills needed to be teachers in the areas of behavior management and language acquisition. Using group meetings and home visits, parents were taught general principles of behavior change as well as intervention strategies for specific problems. A sample of parents' teaching behaviors with their children was videotaped three times before and once after treatment. There were no significant changes in teaching behavior before treatment. After training, the results showed that the observation code could discriminate reliably between parents' correct and incorrect use of eight discrete and specifiable behavior modification skills. The significance of these findings and the uses and limitations of the code were discussed.

Behavior Therapy↗
PubMed1989

Functional equivalence of autistic leading and communicative pointing: analysis and treatment.

Several studies have demonstrated that behavior problems can be reduced by teaching new, socially desirable responses that serve the same function as the undesirable behaviors being replaced. The present study was undertaken to extend this strategy systematically to a different area of child development, specifically, language disorder. A less desirable form of requesting, autistic leading, was treated by strengthening a more desirable form of requesting, pointing. The study was conducted using a multiple baseline design across four children with autism. Intervention included verbal and physical prompting of the pointing response as well as tangible reinforcement for child-initiated instances of that response. In a later phase, verbal requesting was also taught to accompany the pointing. Following intervention, response generalization was observed; that is, as pointing became frequent, leading became rare. In addition, stimulus generalization was observed; that is, pointing was exhibited in the presence of new adults, new settings, and new tangible objects. Results are discussed with respect to the principle that functional equivalence and response efficiency can be combined procedurally to treat a variety of undesirable behaviors in an educationally constructive manner.

Autistic Disorder↗
PubMed1992

Nosology of spastic tetraplegic cerebral palsy: clinical review of fifty cases.

The aim of this study is to contribute to the definition of tetraplegic cerebral palsy (TCP) and to verify the classification criteria currently used by reviewing the clinical and neurological aspects of 50 children having non-progressive encephalopathy with neurological involvement of 4 limbs (symmetric 4-limb type, side-asymmetric type, upper-limb dominated type with or without dystonic traits). All severe diplegic patients, i.e. less upper than lower limb involvement and patients with dystonic hyperkinetic syndrome without spastic features were excluded. The data were supplied by the hospital records, evolution of motor performance and the presence or absence of epilepsy, visual problems, language disorders, intellectual impairment. All the children underwent: neurological examination, functional assessment, cognitive evaluation. Severe motor impairment was found in 80% of the patients, whose clinical characteristics led to a diagnosis of severe TCP or "true TCP" according to Hagberg, whereas 20% of them showed mild to moderate impairment with a more favorable prognosis. This group of patients complied with the classification of Michaelis who defined the quadrispastic CP types more broadly and delineated five subgroups also including cases with milder involvement (side-dominated, three-limb dominated tetraparesis). The intellectual assessment showed that, in the severely affected patients, only a small percentage had severe intellectual impairment (IQ less than 50, 37.5%), which contrasts with published data on this pathology, while the majority of the subjects showed moderate (25%) or mild intellectual impairment (32.5%) or normal cognitive function (5%).(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1984

Sign language as a communication prosthesis with language-impaired children.

Many language-impaired children rely on telegraphic speech for expression. Functors such as prepositions and pronouns are mostly absent from their utterances. In an experimental analogue to clinical work, 14 3- to 11-year-old children with various levels of language impairment were exposed to drawings portraying a single scene. A meaningful sentence including either a pronoun or a preposition, which the children were not spontaneously using at pretesting, was associated with each drawing. Training the children to use the functors followed one of two approaches. The experimenter either vocalized the functor, or she vocalized and signed it. Results revealed that, for both functor acquisition and functor recall, speech and sign training was superior to speech training. Type of functor trained was also important, with prepositions faring better than pronouns. Reasons for this speech facilitation through signs, and issues related to implementation, are discussed.

Child↗
PubMed1984

Language intervention: a pragmatic approach.

The approach to language intervention described in this paper provides a means of teaching pragmatically appropriate and effective uses of language in conversational contexts while simultaneously teaching the production and comprehension of specific linguistic forms. The approach, developed in work with seriously language-disabled young children, consists of a series of communication games. These games, which focus and intensify certain characteristics of conversational situations, teach vocabulary, syntax, and articulation as devices for serving the same pragmatic functions these devices serve in ordinary conversation. The games integrate the advantages of the traditional language lessons and those of incidental teaching. Spontaneous speech data collected before and after a 4-month interval from trained and contrast-group children suggest the positive impact of the intervention on the language performance of children with no or moderate cognitive delays, but the results do not suggest a similar impact on children with severe cognitive delays. The results suggest that the intervention merits further application and evaluation, with particular attention to the control of cognitive level.

Child↗
PubMed1996

Bedside screening for aphasia: a comparison of two methods.

A prospective study was carried out in 50 consecutive patients referred with suspected aphasia in order to compare the Frenchay Aphasia Screening Test (FAST) with the Sheffield Screening Test for Acquired Language Disorders (SST). The study included 32 men and 18 women with a mean (SEM) age 53.9 (2) years. The comprehension scores on the FAST were correlated with receptive skills on the SST r = 0.74 (P < 0.001). For expression, the correlation coefficient was r = 0.92 (P < 0.001) and the total scores of the two tests correlated closely r = 0.89 (P < 0.001). There was a positive correlation between total score on the FAST and the Short Orientation, Memory and Concentration test (SOMC) r = 0.86 (P < 0.001), and the total scores on the SST and SOMC r = 0.91 (P < 0.001). The Barthel index also correlated positively with the FAST r = 0.59 (P < 0.001) and SST r = 0.63 (P < 0.001). The study demonstrated that the two tests are simple, short and similar in their predictive value for the screening and diagnosis of aphasia. The SST was found to have additional advantages, as it does not require any special equipment or stimulus cards, and it was not affected by visual neglect.

Aphasia↗
PubMed2003

Linguistic deficits in the acute phase of stroke.

BACKGROUND AND PURPOSE: For the diagnosis of aphasia early after stroke, several screening tests are available to support clinical judgment. None of these tests enables the clinician to assess the underlying linguistic deficits, i. e. semantic, phonological and syntactic deficits, which provides indispensable information for early therapeutic decisions. The ScreeLing was designed as a screening test to detect semantic, phonological and syntactic deficits. The ScreeLing's sensitivity, specificity and accuracy in detecting aphasia and semantic, phonological and syntactic deficits were determined. METHODS: The ScreeLing was validated in an acute stroke population against a combined reference diagnosis of aphasia (aphasia according to at least two of the following measures:ne urologist's judgment, linguist's judgment, Tokentest-score). The three ScreeLing subtests were validated in the aphasic population against the presence or absence of a semantic, phonological and/or syntactic deficit according to an experienced clinical linguist. RESULTS: From a consecutive series of 215 stroke patients, 63 patients were included. The ScreeLing was an accurate test for the detection of aphasia (0.92),with a sensitivity of 86% and specificity of 96%. Sensitivity of subtests was 62 % for semantics, 54 % for phonology and 42 % for syntax. Specificity was 100 % for semantics and phonology and 80 % for syntax, and accuracy 0.84 for semantics, 0.87 for phonology and 0.64 for syntax. CONCLUSIONS: The ScreeLing is an accurate test that can be easily administered and scored to detect aphasia in the first weeks after stroke. Furthermore, the ScreeLing is suitable for revealing underlying linguistic deficits, especially semantic and phonological deficits.

Aged↗
PubMed2002

FOXP2: novel exons, splice variants, and CAG repeat length stability.

FOXP2 is a transcription factor containing a polyglutamine tract, a zinc-finger motif, and a forkhead DNA-binding domain. The FOXP2 gene is located on 7q31. A missense mutation in the forkhead domain (exon 14) and a balanced reciprocal translocation t(5;7)(q22;q31.2) with a breakpoint between exons 3b and 4 have recently been associated with a speech and language disorder (SPCH1). The role of FOXP2 in this neurodevelopmental disorder suggests that mutations in FOXP2 could cause other neuropsychiatric disorders. To begin investigation of this possibility, we examined the genomic structure and CAG/CAA repeat region of FOXP2. We detected little polymorphism and no expansions in the FOXP2 CAG/CAA repeat in 142 individuals with progressive movement disorders. We found evidence of alternate splice variants and six previously undetected exons: three 5' untranslated exons (s1, s2, s3), two additional untranslated exons (2a and 2b) between exons 2 and 3, a translated exon (4a) between exons 4 and 5, and a longer version of exon 10 (10+) that contains an alternate stop codon and produces a truncated protein (FOXP2-S). Our results suggest that FOXP2 spans at least 603 kb of genomic DNA, more than twice the previously defined region, and provide evidence of a promoter region flanking exon s1. This demonstration of additional FOXP2 exons and splice variants should facilitate understanding of FOXP2 function and the search for additional FOXP2 mutations.

Alternative Splicing↗
PubMed2004

The aetiology of specific language impairment: no evidence of a role for obstetric complications.

The role of obstetric complications (OC's) in Specific Language Impairment (SLI) has been investigated, but the relationship remains unclear. This study investigates the association between SLI and OC's in a sample of 194 children, participants in a family study of SLI. Initial analyses utilising a traditional case-control approach found no evidence of an association. The effect of changing the case criteria was explored, but the finding of no association remained. The relationship between OC's and various language measures was also investigated using continuous data analytic techniques. This supported the findings of the case control analysis of no association. Previous reports have suggested a specific role for either hypertension or toxaemia in pregnancy. This study found no evidence for an association between these complications of pregnancy and SLI. This study found no evidence to support an aetiological role of OC's in SLI.

Case-Control Studies↗
PubMed2005

Italian Right Hemisphere Language Battery: the normative study.

Clinical neurolinguistics still lacks consolidated and standardised tools for the assessment of impairments of pragmatics of verbal communication. In the present paper we present norms of the Italian version of the Right Hemisphere Language Battery (Batteria del Linguaggio dell'Emisfero Destro, BaLED) originally devised by Bryan. The normative study has been conducted with the recruitment of 440 healthy subjects. The battery of tests was not intended to be cognitively oriented, by providing evidence of the cognitive impairments underpinning verbal pragmatic deficits; on the contrary, it permits the detection of the presence/absence of impairments in processing the main pragmatic features of verbal communication traditionally associated with right hemisphere lesions. Thus, apart from being a clinical tool for diagnosing pragmatic impairments of verbal communication, the BaLED represents a useful initial battery of tests for clinical assessment and for selecting specific populations of neurological patients suitable for investigation in further experimental studies.

Adult↗
PubMed2005

Post-Institutional Autistic Syndrome in Romanian adoptees.

Romanian adoptees have a background of severe neglect. International research has shown that this can give rise to symptoms of autistic behavior. Rutter et al. (1999, Journal of Child Psychology Psychiatry, 40(4), 537-549.) refers to "quasi-autistic patterns", and Federici (1998, Help for the hopelss child: A guide for families. Alexandria: Federici & Assocoates.) to Post-Institutional Autistic Syndrome (PIAS). Eighty Romanian adoptees, averaging 8 years of age, who had resided in the Netherlands for 5 years were studied. Parent interviews and the Auti-R scale showed the extent to which the children exhibited PIAS. In one third of these children we observed (in addition to other behavioral problems) stereotypic behaviors and communication and language disorders. Our findings resembled the Rutter et al. (1999, Journal of Child Psychology Psychiatry, 40(4), 537-549). data. Six of the children were classified within the autistic spectrum pursuant to the Auti-R, and seven within the so-called intermediate group. No difference was found between the girls and the boys. Children who had been in their adoptive families for 5 years or more showed fewer behavior problems than children who had been in their adoptive families for four or less years.

Adoption↗
PubMed2005

Global-local precedence in the perception of facial age and emotional expression by children with autism and other developmental disabilities.

Global information processing and perception of facial age and emotional expression was studied in children with autism, language disorders, mental retardation, and a clinical control group. Children were given a global-local task and asked to recognize age and emotion in human and canine faces. Children with autism made fewer global responses and more errors when recognizing human and canine emotions and canine age than children without autism. Significant relationships were found between global information processing and the recognition of human and canine emotions and canine age. Results are discussed with respect to the relationship between global information processing and face perception and neural structures underlying these abilities.

Affect↗
PubMed2005

The role of the corpus callosum in interhemispheric transfer of information: excitation or inhibition?

The corpus callosum is the major neural pathway that connects homologous cortical areas of the two cerebral hemispheres. The nature of how that interhemispheric connection is manifested is the topic of this review; specifically, does the corpus callosum serve to communicate an inhibitory or excitatory influence on the contralateral hemisphere? Several studies take the position that the corpus callosum provides the pathway through which a hemisphere or cortical area can inhibit the other hemisphere or homologous cortical area in order to facilitate optimal functional capacity. Other studies suggest that the corpus callosum integrates information across cerebral hemispheres and thus serves an excitatory function in interhemispheric communication. This review examines these two contrasting theories of interhemispheric communication. Studies of callosotomies, callosal agenesis, language disorders, theories of lateralization and hemispheric asymmetry, and comparative research are critically considered. The available research, no matter how limited, primarily supports the notion that the corpus callosum serves a predominantly excitatory function. There is evidence, however, to support both theories and the possibility remains that the corpus callosum can serve both an inhibitory and excitatory influence on the contralateral hemisphere.

Arousal↗
PubMed1994

Canonical linking rules: forward versus reverse linking in normally developing and specifically language-impaired children.

Canonical linking rules for mapping thematic roles with syntactic functions were studied. Three experiments were undertaken to investigate the nature of productive forward linking (from semantics to syntax) and productive reverse linking (from syntax to semantics). I proposed that reverse linking, in contrast to forward linking, requires more detailed specification of the syntactic structure; that is, a syntactic representation which specifies each particular syntactic frame and all the argument positions within that frame. Six specifically language-impaired children (aged 6;1 to 9;6) were matched on language abilities to 17 younger, normally developing children (language age 3;1 to 6;6). In Experiment 1--forward linking--the children were shown the meaning of a novel verb and had to describe the event using the novel verb. Experiment 2--a comprehension task--required acting out sentences containing the newly learned verbs. In Experiment 3--reverse linking--the children were told a sentence with a novel verb and had to act out its meaning, assigning thematic roles on the basis of the syntactic frame. Group and individual analysis generally revealed no significant differences between the specifically language-impaired children and the language age control children in Experiments 1 and 2, but a significant difference was found for Experiment 3. The normally developing children showed a good use of productive forward and reverse linking. The specifically language-impaired children demonstrated good productive forward linking but were significantly worse at reverse linking. An interpretation of the data, showing differences in the syntactic representation required for forward versus reverse linking, can account for the findings. I propose that a deficit in the area of "government" or "locality" which underlies c-selection and specifies the syntactic relationship between constituents can account for the data from this study and the data from previous investigations of specifically language-impaired children.

Child↗