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PubMed2002

TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment.

The TM4SF2 gene (localized at Xp11.4 between the loci DXS564 and DXS556) has been found to be mutated in one MRX family. In order to define the corresponding behavioral phenotype, global IQ and specific cognitive skills were assessed in seven males and three females of this family, independent of subject status. Mental retardation (MR) was mild in three patients and moderate in three others. Despite the broad variability of severity of MR, a cognitive profile specific to the MR in this family was documented. It was characterized by language disorder that was more marked in the articulatory component and spatial/verbal short-term memory dissociation with larger mnemonic span for spatial than for verbal cues. Linkage analysis was then performed on the basis of the cognitively determined status. Recombinations were observed with the loci DXS556 at Xp11.4 and DXS441 at Xq13.2 (maximum LOD score = 2.23 at theta = 0 for ALAS2). This localization region does not include the TM4SF2 gene that has been found mutated in both patients with MR and in one non-MR male subject of this family. The present results suggest two main hypotheses. First, TM4SF2 gene mutation could be involved in MR in this family, therefore representing accentuated intra familial phenotypic variability. Second, the structural particularity detected in the TM4SF2 gene might reflect a rare polymorphism rather than a pathogenic mutation, with the gene responsible for MR in this family being therefore more likely to be searched for in the pericentromeric region of the X chromosome.

Adult↗

PubMedDate not supplied

Syntactic delay and pragmatic deviance in the language of fragile X males.

The expressive language of 19 fragile X [fra(X)] males with chronological ages between 5 and 36 years and Vineland Adaptive Behavior Scores between 21 and 79 was examined for syntactic as well as pragmatic proficiency. The production of deviant repetitive language was observed with this group, corroborating the results of an earlier study with a smaller sample of fra(X) males. In contrast, when 2 syntax scores, mean length of utterance (MLU), and Index of Productive Syntax (IPSyn) were derived from naturalistic language observations, the relation of complexity to length was observed to be very similar to the known relationship of these 2 facets of syntactic ability in normal preschoolers. These results, and the absence of correlations between syntactic scores and proportions of deviant repetitive language are consistent with the notion that the syntactic development of fra(X) males is typically delayed rather than deviant. For effective assessment and remediation of communicative problems associated with the syndrome to be developed, it is argued, language must be considered as a combination of competencies rather than as a unitary skill.

Adolescent↗

PubMed1993

Angelman and Prader-Willi syndrome: a magnetic resonance imaging study of differences in cerebral structure.

Recent improvements in magnetic resonance imaging techniques now allow the developing brain to be visualized in sufficient detail to perform "in vivo neuropathology." In this study we compared the cortical morphology in six children with Angelman and four with Prader-Willi syndrome. These two syndromes are of special interest because, although they are both caused by deletions in the same region of chromosome 15, Angelman children are far more severely affected, and do not speak. We measured the length of the banks of the Sylvian fissure in a gapless series of thin sagittal images. Angelman children had a significantly larger proportion (75%) of anomalous fissures than the Prader-Willi children (12%). Anomalous cortical growth could result from mistimed expression and recognition of macromolecules involved in axonal guidance, target recognition, and pruning. We hypothesize that misrouting of long projection axons may be related to the Sylvian fissure anomalies and the language disorder in Angelman syndrome.

Angelman Syndrome↗

PubMed2003

Donepezil for the treatment of language deficits in adults with Down syndrome: a preliminary 24-week open trial.

At present, there is no proven pharmacologic treatment for cognitive or language impairments in Down syndrome (DS). Cholinergic deficits have been documented in DS and linked to cognitive deficits. This study is a 24-week open-label clinical trial of donepezil hydrochloride for the treatment of language deficits in adults with DS. To our knowledge, this is the first prospective study to evaluate systematically the effects of donepezil, a cholinesterase inhibitor, on specific language domains in DS. The main finding that emerged was an improvement in expressive language performance following donepezil therapy. Despite the multiple methodological limitations, the results raise important questions regarding the role of the cholinergic system in language function and the specific effect of cholinergic therapy in the treatment of language impairment in DS. The results support the need for large-scale controlled studies of the effects of donepezil treatment on language and on other cognitive domains in DS.

Adult↗

PubMed2005

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.

Four Dutch male patients, two brothers from unrelated families were referred for investigation of psychomotor and severe language/speech delay. All four patients showed growth deficiency over the years. Facial features and poor body habitus were quite similar in the patients and in their mothers. Brain MRI showed nonspecific periventricular white matter lesions. In all the patients neuropsychological tests revealed moderate mental retardation, attention deficit and hyperactivity with impulsivity, a semantic-pragmatic language disorder, and oral dyspraxia. This specific cognitive profile is different from other children with mental retardation syndromes and seems to be unique. Excretion of creatine to creatinine ratio in urine of the four boys was increased compared to controls and their creatine uptake in fibroblasts was deficient. In the two brothers from the first pedigree, DNA sequence analysis revealed a novel mutation in the splice donor site in intron 10 (IVS10 + 5G>C, c.1495 + 5G>C) of the SLC6A8 gene leading to skipping of exon 10. In the other sib pair a novel missense mutation (c. 1361C>T; p.Pro544Leu) was found. These are the first families reported, in which the clinical suspicion of a creatine transporter disorder was raised on clinical grounds, before a brain 1H-MRS suggested the diagnosis. Screening of apparently X-linked mental retarded patients with this somatic and behavioral phenotype by the biochemical assay of creatine to creatinine ratio in the urine or DNA sequence analysis of SLC6A8 is worthwhile even when 1H-MRS is not available.

Base Sequence↗

PubMed2004

MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism.

Mutations in the gene coding for methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome (RTT) and have also been reported in a number of X-linked mental retardation syndromes. Furthermore, putative mutations recently have been described in a few autistic patients and a boy with language disorder and schizophrenia. In this study, DNA samples from individuals with schizophrenia and other psychiatric diseases were scanned in order to explore whether the phenotypic spectrum of mutations in the MECP2 gene can extend beyond the traditional diagnoses of RTT in females and severe neonatal encephalopathy in males. The coding regions, adjacent splicing junctions, and highly conserved segments of the 3'-untranslated region (3'-UTR) were examined in 214 patients, including 106 with schizophrenia, 24 with autism, and 84 patients with other psychiatric diseases by detection of virtually all mutations-single strand conformation polymorphism (SSCP) (DOVAM-S). To our knowledge, this is the first analysis of variants in conserved regions of the 3'-UTR of this gene. A total of 5.2 kb per haploid gene was analyzed (1.5 Mb for 214 patients). A higher frequency of missense and 3'-UTR variants was found in autism. One missense and two 3'-UTR variants were found in 24 patients with autism versus one patient with a missense change in 144 ethnically similar individuals without autism (P = 0.009). These mutations suggest that a possible association between MECP2 mutations and autism may warrant further study.

3' Untranslated Regions↗

PubMed1981

Neurological status of language-impaired and normal children.

The performance on a neurological test battery of 33 language-impaired children who had no gross neurological findings and 37 normal children controlled for age, performance IQ, and socioeconomic status was compared. The language-impaired group was distinguished by less efficient performance in a number of areas, particularly in tasks involving involving rate of movement, perception of dichhaptic stimuli, and left-right identification. Discriminant function analysis identified six variables that correctly classified 87% of the population into their respective normal and language-impaired groups.

Brain↗

PubMed1988

Nondextrality and autoimmune disorders among relatives of language-disabled boys.

The incidences of autoimmune diseases, nonrighthandedness, and premature graying of the hair have been said to be increased among the relatives of dyslexic persons. I undertook a prospective evaluation of the relatives of 100 language-disabled boys seen in a tertiary hospital learning disabilities clinic. I established the incidence of these characteristics and compared the results with those obtained from the relatives of 100 boys referred to a neurology clinic for evaluation of seizures or muscle disease. The families of the language-disabled boys were divisible into two groups, one with an increased incidence of these characteristics and one with a decreased incidence as compared with the control group. This suggests a biological heterogeneity among these families, despite a similar phenotype among all the language-disabled probands.

Adolescent↗

PubMed1990

Delineation of single-word semantic comprehension deficits in aphasia, with anatomical correlation.

In 3 of 18 aphasic patients pure deficits in semantic comprehension at the single-word level were defined through a series of tasks that excluded possible confounding deficits in auditory perception, visual perception, or speech production. In these pure cases, deficits were found at the superordinate, equivalence, and subordinate levels of single-word semantic processing. Pure semantic deficits were found to be correlated with damage to the left posterior temporal and inferior parietal region; patients whose damage spared this area did not evince such deficits, and the converse was also true. This study confirms the existence of separable deficits in semantic comprehension and points conclusively to the left posterior temporal and inferior parietal region as being critical for semantic processing. This anatomical localization is in keeping with anatomical studies from nonhuman primates, suggesting that these regions may be concerned with multimodal processing and integration of language.

Aphasia↗

PubMedDate not supplied

Are RAN- and phonological awareness-deficits additive in children with reading disabilities?

The double-deficit hypothesis (Wolf, M. and Bowers, P.G. (1999) The double-deficit hypothesis for the developmental dyslexias. Journal of Educational Psychology, 91, 415-438) proposes that deficits in phonological processing and rapid automatized naming (RAN) are separable sources of reading dysfunction. Further, the double-deficit hypothesis predicts that the presence of deficits in both phonological processing and RAN have an additive negative influence on reading performance above and beyond that of a single deficit. The purpose of this study was to examine the additive nature of phonological awareness (PA)- and RAN-deficits on written language skill in children with reading disabilities (RD). Concurrent relationships between PA, RAN, and written language skills were examined in 476 children with RD, ranging in age from 8 to 18 years of age. Hierarchical regression analysis revealed that PA and RAN skill have an additive effect on a majority of the reading and spelling measures. When participants were classified into three deficit subtypes based on the double-deficit model (i.e. phonological-, rate-, and double-deficit), comparisons across the subtypes confirmed that individuals with double-deficits performed below the single-deficit groups on both subtyping variables (RAN and PA) and all measures of written language. When the double- and single-deficit groups were matched on the subtyping variable (i.e. double- and rate-deficit groups matched on RAN and double- and phonological-deficit groups matched on PA) differences between the double- and rate-deficit groups remained in non-word reading, whereas differences between the double- and phonological-deficit groups remained in timed word recognition and reading comprehension. These results support an additive model in which RAN-deficits primarily affect tasks that require speeded/fluent response, and PA-deficits primarily affect tasks that emphasize phonological processing skill. Results are also presented that illustrate several statistical problems associated with the formation of deficit groups by dichotomizing the RAN and PA variables.

Awareness↗

PubMedDate not supplied

Guidelines for treatment of chronic depression in the aphasic patient.

This article defines the language disorder of aphasia and the motor speech disorders of apraxia of speech and the dysarthrias. Discussion includes depression and the five definable sets of behaviors related to the phenomenon: motor-expressive behaviors, affective, cognitive, motivational, and somatic, and the relationship of self-concept to both depression and visual and verbal thought. Detailed discussion of treatment of chronic depression inpatients with non-organic reactive factors is presented. These include positive reinforcement of desirable behaviors, avoidance of verbal punishment, labeling the disorder for the client and family, and time structuring or scheduling to assist in motivation. In addition, implementation of support from family, friends, and social relationships, tolerance of expressions of frustration and anger by the client, and environmental manipulation are considered therapeutic interventions.

Aphasia↗

PubMed2003

Deficit of verb generation in nondemented patients with Parkinson's disease.

Clinical and neuroimaging studies have shown that verb processing suggests a preferential participation of a prefrontal network, which is dysfunctional in Parkinson's disease (PD). To assess a verb processing deficit in PD, we compared noun- and verb-generation tasks for 34 nondemented PD patients (according to the Dementia Rating Scale) with 34 matched normal subjects, using two intracategory tasks (noun/noun and verb/verb generation) and two intercategory tasks (noun/verb and verb/noun generation). PD patients were significantly impaired in the two tasks involving verb production, i.e., verb/verb and noun/verb generation, whereas their performance was similar to those of controls in the two tasks requiring noun production. For the two impaired tasks, we assessed 1) the influence of lexical competition that corresponds to the presence of several candidate words for a given stimulus; 2) the influence of slight cognitive dysfunction; and 3) the influence of motor deficit. Significant correlations were found between DRS scores and performance on the noun/verb task, and no significant correlations were found between lexical competition or motor deficit and performance. The specific deficit for verb production in PD patients is discussed in relation to deficits affecting either action or grammatical representations.

Antiparkinson Agents↗

PubMed1997

Thalamic amnesia following venous infarction: evidence from a single case study.

The present paper describes the case of a right-handed Italian-English bilingual male patient suffering from amnesia following a bilateral thalamic lesion due to venous infarction. Within a few months from the onset, the lesion gradually shrank and was finally confined to the left thalamus only, in particular to the antero-medial portion and the pulvinar. The mammillary bodies and the cortical areas of both hemispheres were spared. After the regression of a series of generalized cognitive deficits implying slow psychic activity confusion, and spatial and temporal disorientation, the patient presented a persistent amnesic syndrome with mild language disorders, both in Italian and in English. Major disorders of memory included a dissociation between verbal memory, which was severely impaired, and spatial memory, which was largely preserved.

Brain Ischemia↗

PubMed1994

Comprehension and imitation of syntax following early hemisphere damage.

Twenty-five children with early left (LL = 16) or right (RL = 9) hemisphere damage and 25 age-matched controls were tested on their comprehension and imitation of complex coordinate, passive, and relative clause structures using a matched experimental design. The predominant deficit exhibited by left-injured children was one of significantly impaired imitation coupled with relatively preserved comprehension. For RL subjects the deficit was less pronounced in either comprehension or imitation. Manipulation of surface and configurational features of sentence structure revealed task differences in the pattern of correct performance; however, error strategies observed across the two methodologies were shown to converge in a number of critical ways, as well as to replicate those previously obtained with adult aphasics. The results are interpreted as consistent with an early and continuous left hemisphere specialization for expressive syntax.

Adolescent↗

PubMed1994

Sentence completion task in right-brain-damaged right-handers: Eisenson's study revisited.

This study investigated Eisenson's claim (Eisenson, 1962, 1973) that right-brain-damaged right-handers (RBDs) are impaired on a sentence completion task especially when they have to look for abstract words. Five sentences to be completed with concrete nouns and five sentences asking for abstract nouns were presented to 34 right-brain-damaged patients and to 19 normal control subjects. RBDs' performance differed from that of normals on both types of sentences when expected words were considered as the only acceptable answers, but was judged defective only for the sentences to be completed with abstract nouns when both expected words and adequate words were accepted. Moreover, of the RBDs, only 50% performed less well than 95% of the control subjects under this last condition. Factors such as age, education, and lesion site failed to characterize this subgroup of RBDs.

Brain Damage, Chronic↗

PubMed1994

The effects of task variation on the production of grammatical morphology in Broca's aphasia: a multiple case study.

Generally task variation is not taken into account in discussions about agrammatism in Broca's aphasia. Both free speech and speech under constrained conditions are classified as "agrammatic speech." In this study, we investigated the effects of task variation on the character of agrammatic speech. We employed three types of task situations, an interview and two picture description tasks, to elicit speech from 16 Dutch and 3 German Broca's aphasics. The two picture description tasks differed in the extent to which they necessitated the production of grammatical morphology. Various task-dependent changes in the character of agrammatic speech were observed. Overall, omission rates of grammatical morphemes went down and substitution rates tended to go up in picture description as compared to free conversation. Results are discussed by contrasting two explanatory concepts, task interaction and strategic variation.

Adult↗

PubMed1994

Influence of size and site of cerebral lesions on spontaneous recovery of aphasia and on success of language therapy.

Changes in linguistic competence were assessed with the Aachen Aphasia Test in 18 aphasic patients across 8 weeks of spontaneous recovery, 8 weeks of intensive language therapy, and after a follow-up period of 8 weeks without therapy. CT scans were obtained from all patients and were evaluated for size of lesion and for affection of Wernicke's area, adjacent regions of superior and middle temporal gyrus, inferior parietal lesions, and temporobasal lesions. Size of lesion had a negative influence on recovery in all phases. Patients with lesions to temporobasal regions showed less improvement during therapy and less total recovery, but a similar amount of spontaneous recovery than patients without such lesions. Lesions that affected the temporobasal regions were on average larger than those which spared them, but the dissociation between reduced therapy success and unaffected spontaneous recovery became even more conspicuous when the concurrent effect of lesion size was minimized by appropriate selection of patients. Possibly, temporobasal lesions cause a disconnection between the hippocampal formation and perisylvian language areas and hinder explicit learning of linguistic knowledge and compensatory strategies.

Adult↗

PubMed1995

A property level analysis of lexical semantic representation in Alzheimer's disease.

In order to assess the hypotheses that Alzheimer's disease (AD) results in a property level restructuring, loss, or degradation of lexical-semantic knowledge, Alzheimer's patients and normal elderly subjects were presented with a property verification task in which they were asked to judge the truth value of telegraphic statements which paired objects with their properties (e.g., "Apple is red."). Objects with either high- or low-typical exemplars of categories (e.g., "oak" is a high typical exemplar of the category "tree." while "palm" is a less typical item). Properties were varied with respect to normatively determined dominance (e.g, "fins" is a high dominant property of "trout," while "slimy" is a less dominant property) and whether they were distinctive (i.e., served to distinguish between subsets of exemplars within a category) or shared among most or all category members (e.g., "stem" for the category "fruit"). Analyses of accuracy and reaction time data suggested that AD results in neither a loss per se of representation of properties, nor a reorganization of relations between objects' properties. However, results were consistent with a property level degradation of AD patients' object concepts. While there was no evidence for a differential degradation of distinctive vs shared properties, results suggested that AD patients have degraded representations of lower dominant properties and properties of low-typical category exemplars.

Aged↗