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PubMed2000

Segregation analysis of phenotypic components of learning disabilities. I. Nonword memory and digit span.

Dyslexia is a common and complex disorder with evidence for a genetic component. Multiple loci (i.e., quantitative-trait loci [QTLs]) are likely to be involved, but the number is unknown. Diagnosis is complicated by the lack of a standard protocol, and many diagnostic measures have been proposed as understanding of the component processes has evolved. One or more genes may, in turn, influence these measures. To date, little work has been done to evaluate the mode of inheritance of individual component-as opposed to composite-phenotypes, beyond family or twin correlation studies that initially demonstrate evidence for a genetic basis of such components. Here we use two approaches to segregation analysis in 102 nuclear families to estimate genetic models for component phenotypes associated with dyslexia: digit span and a nonword-repetition task. Both measures are related to phonological skills, one of the key component processes in dyslexia. We use oligogenic-trait segregation analysis to estimate the number of QTLs contributing to each phenotype, and we use complex segregation analysis to identify the most parsimonious inheritance models. We provide evidence in support of both a major-gene mode of inheritance for the nonword-repetition task, with approximately 2.4 contributing QTLs, and for a genetic basis of digit span, with approximately 1.9 contributing QTLs. Results obtained by reciprocal adjustment of measures suggest that genes contributing to digit span may contribute to the nonword-repetition score but that there are additional QTLs involved in nonword repetition. Our study adds to existing studies of the genetic basis of composite phenotypes related to dyslexia, by providing evidence for major-gene modes of inheritance of these single-measure component phenotypes.

Age Factors↗
PubMed1999

Explicit and implicit processing of words and pseudowords by adult developmental dyslexics: A search for Wernicke's Wortschatz?

Two groups of male university students who had been diagnosed as dyslexic when younger, and two groups of control subjects of similar age and IQ to the dyslexics, were scanned whilst reading aloud and during a task where reading was implicit. The dyslexics performed less well than their peers on a range of literacy tasks and were strikingly impaired on phonological tasks. In the reading aloud experiment, simple words and pseudowords were presented at a slow pace so that reading accuracy was equal for dyslexics and controls. Relative to rest, both normal and dyslexic groups activated the same peri- and extra-sylvian regions of the left hemisphere that are known to be involved in reading. However, the dyslexic readers showed less activation than controls in the left posterior inferior temporal cortex [Brodmann area (BA) 37, or Wernicke's Wortschatz], left cerebellum, left thalamus and medial extrastriate cortex. In the implicit reading experiment, word and pseudoword processing was contrasted to visually matched false fonts while subjects performed a feature detection paradigm. The dyslexic readers showed reduced activation in BA 37 relative to normals suggesting that this group difference, seen in both experiments, resides in highly automated aspects of the reading process. Since BA 37 has been implicated previously in modality-independent naming, the reduced activation may indicate a specific impairment in lexical retrieval. Interestingly, during the reading aloud experiment only, there was increased activation for the dyslexics relative to the controls in a pre-motor region of Broca's area (BA 6/44). We attribute this result to the enforced use of an effortful compensatory strategy involving sublexical assembly of articulatory routines. The results confirm previous findings that dyslexic readers process written stimuli atypically, based on abnormal functioning of the left hemisphere reading system. More specifically, we localize this deficit to the neural system underlying lexical retrieval.

Adult↗
PubMed1994

Verbal intellectual and verbal memory performance of youths with childhood-onset insulin-dependent diabetes mellitus.

Tested the hypothesis that memory dysfunction mediated the decline in verbal intellectual performance (as measured by the WISC-R Vocabulary test) that we detected previously in a prospective study of children who developed IDDM between the ages of 8 to 13 years. Three tests of verbal learning and memory were administered to 57 diabetic youths at end-of-study who had been followed for 8 years, on average. Memory performance at end-of-study was predicted only by Vocabulary test score at study entry. IDDM duration, long-term metabolic control, depression/anxiety, demographic variables, or blood glucose level at the time of assessment were not associated with memory test scores. Stepwise multiple regression revealed that level of performance on a test of short-term or working memory was associated with magnitude of decline in verbal intellectual performance over time, providing partial support for our hypothesis.

Age of Onset↗
PubMed2001

Profound amnesia and confabulation following traumatic brain injury.

Amnesia and confabulation may persist following acute aneurysmal hemorrhage of the anterior communicating artery, chronic alcoholic Korsakoff's syndrome, and late-stage dementia of the Alzheimer type. However, there is a paucity of information regarding the persistence of these symptoms following traumatic brain injury. We present the case of JL, a 43-year-old male with persistent and severe anterograde amnesia for verbal and visual information with co-occurring provoked confabulation which persists well into the chronic phase of recovery after a severe traumatic brain injury. Neuropsychological testing at 7 weeks post-injury demonstrated severe anterograde amnesia with co-occurring confabulation. Follow-up testing at 9.5 months post-injury showed persistent and severe anterograde amnesia and provoked confabulation despite superior non-verbal intelligence and above average attentional and perceptual abilities. Late computed tomography showed chronic hypodense regions in the temporal lobes, bilaterally (L > R), and in the region of the left ventrolateral frontal lobe. This case demonstrates that anterograde amnesia and provoked confabulation may persist long after the acute phase of recovery after traumatic brain injury, and also supports previous research which asserts that medial temporal lobe damage must be accompanied by ventral frontal lobe pathology to produce the amnestic-confabulatory syndrome.

Adult↗
PubMed1986

Intellectual, behavioral, and linguistic characteristics of three children with 18p- syndrome.

Developmental characteristics of three girls with 18p- syndrome are described, with detailed history and results of psychological and speech/language evaluations completed at various ages. Results suggest that some children with 18p- syndrome have average abilities in selected areas, despite previous reports that these children have mild to severe mental retardation. Two of the three girls had more severe deficits in linguistic, as opposed to nonlinguistic, abilities. All had similar difficulties with speech articulation. It is suggested that children with speech/language delays who have physical features associated with this syndrome have chromosome analysis performed. It is also recommended that children identified as having 18p- syndrome be referred for comprehensive developmental assessments and remedial special education programming before a specific prognosis is determined.

Articulation Disorders↗
PubMed2005

A systematic review of in vitro retrograde obturation materials.

The purpose of this review was two-fold: (a) to determine which retrograde obturation material(s) best prevents dye/ink penetration in vitro; and (b) to determine whether in vitro results agree with in vivo results. A MEDLINE search was conducted to identify in vitro studies published between January 1966 and October, week 4, 2003, conducted on human teeth, and published in English, German, or French language, testing the resistance to retrograde penetration of retrograde filling materials. The MEDLINE search identified 278 published articles. Of those, 115 studies examined the resistance to penetration of various retrograde filling materials, in vitro. Thirty-four studies met all the inclusion and validity criteria. The results indicate that, beyond 10 days in vitro, the most effective retrofilling materials, when measured by dye/ink penetration are: composites>glass ionomer cement>amalgam>orthograde gutta-percha>EBA. The results of these in vitro studies are not congruent with in vivo study results, suggesting a need to re-evaluate the clinical validity and importance of in vitro studies.

Aluminum Compounds↗
PubMedDate not supplied

Preschool language intervention--a follow-up of some within-group differences.

A more detailed study was made of the children who had been followed-up by Urwin, Cook & Kelly (1988) 4-8 years after leaving a preschool language group. Children were independently allocated into groups according to their speech and language diagnosis prior to entry to the Unit. There were two major dimensions--receptive/expressive versus expressive only, and phonology versus non-phonology. Comparisons were made between the group as indicated by children's performance at follow-up for measures of ability, achievement, language and social functioning. Conclusions are drawn about the long-term effects of the early language difficulty and preschool intervention. Attention is also drawn to differences in perceiving the effects of language difficulty between the specialist professionals on the one hand and parents and teachers on the other.

Child↗
PubMed2004

Together we are heard: effectiveness of daily 'language' groups in a community preschool.

Strong oral language skills are a prerequisite for successful literacy and there is a strong interdependence between oral language acquisition and emergent literacy development. Ramifications of this are that children with language impairments are at great risk for difficulties in learning to read and write, with problems often persisting throughout the school years into adulthood. The Together we are heard program involved improving each child's oral language skills through group sessions facilitated by a speech pathologist on a daily basis at preschool. The aim of the present research was to determine the effectiveness of the program to identify the best way to assist children to develop appropriate language skills. The study showed that the children improved significantly in all four levels of the Preschool Language Assessment Inventory (PLAI). Importantly, the program was effective for both genders and there was no difference in the success of Indigenous children when compared to their European counterparts. There is a strong recommendation for further research and to expand such programs, particularly in areas that target children from impoverished and deprived environmental backgrounds.

Child Day Care Centers↗
PubMed1992

A follow-up study of high-functioning autistic children.

Fifty-eight high-functioning autistic children were assessed during preschool and early school years and followed over a period of 8 years. Early and current psychometric and language tests, parent interviews concerning autistic symptomatology, and direct observations were examined as predictors of the Vineland Adaptive Behavior Scales and scores on standardized achievement tests. Verbal skills emerged as the strongest predictor of social-adaptive functioning. Clear, positive relationships also emerged between intellectual functioning, and academic attainment. Early non-verbal IQ also showed a positive relationship with outcome. Academic performance appeared considerably stronger than in earlier studies.

Achievement↗
PubMed1991

Neuropsychological deficits in adults with dyslexia.

Adults with severe dyslexia were compared with age-, sex-, IQ- and SES-matched controls on a neuropsychological and neuromotor test battery, and a contrast group who had recovered from dyslexia was also included. The severely dyslexic group was substantially impaired on tests of verbal fluency and learning, as well as on non-verbal temporal order judgements. These test scores were strong predictors of the degree of reading impairment, as was the rate of repetitive movement of the right hand and foot. The results suggest that adult dyslexia is not 'isolated', but is one expression of a widespread left-hemisphere dysfunction.

Adult↗
PubMed1997

Medical and social factors associated with cognitive outcome in individuals with myelomeningocele.

The interrelationship between biological and social risk factors and cognitive outcome in individuals with myelomeningocele was examined. The Kaufman Brief Intelligence Test (K-BIT) was administered to 65 children and young adults, age range 4 to 29 during a recent clinic visit. Unshunted individuals had scores in the average range and individuals with uncomplicated hydrocephalus in the low-average range. Although the level of lesion was found to be most strongly associated with total K-BIT score, examination of subscores indicated that socioeconomic status was the factor most strongly associated with Vocabulary score. The importance of both social and biological factors in predicting cognitive outcome in this population is useful in planning intervention strategies.

Adolescent↗
PubMed2005

Utility of the Boston naming test in predicting ultimate side of surgery in patients with medically intractable temporal lobe epilepsy.

PURPOSE: Confrontation naming tasks have long been presumed to be sensitive to left temporal dysfunction and, consequently, are frequently used in the evaluation of surgical epilepsy patients. Despite wide and frequent use, few studies have examined the utility of confrontation naming tasks in individuals with temporal lobe epilepsy (TLE). METHODS: The current study examined the presurgical Boston Naming Test (BNT) performance of 217 right-handed adult patients with intractable TLE (left, 108; right, 109) to determine the utility of this measure in predicting ultimate side of surgery. RESULTS: The results support the clinical utility of the BNT in determining ultimate side of surgery and suggest that the BNT has incremental validity over and above presurgical delayed memory and intelligence scores. This relation was found to be moderated by Full Scale IQ (FSIQ), age at seizure onset, and duration of epilepsy. The use of a logistic regression equation to predict side of surgery revealed that prediction of left temporal surgery was best among patients with low BNT scores, high FSIQs, and late age at seizure onset. In contrast, right temporal surgery was best predicted among patients with high BNT scores, low FSIQs, and short duration of epilepsy. CONCLUSIONS: This study supports the clinical utility of the BNT in the preoperative evaluation of candidates for TLE surgery and highlights the importance of examining potential moderating variables when making predictions about side of surgery. This study further provides clinicians with a regression equation that can be used to predict side of surgery in patients with temporal lobe epilepsy.

Adolescent↗
PubMed1980

Neuropsychologic decrements as a function of alcohol intake in male students.

Drinking history and sober neuropsychologic performance were examined in 45 male university students between the ages of 21 and 30 yr. Sober performance on the Shipley-Hartford Institute of Living Scale was significantly and inversely related to the amount of alcohol consumed per drinking event. Neither frequency of drinking nor lifetime alcohol consumption were significantly related to cognitive performance in controlled multiple regression equations. These findings emphasize the need for more information about the effects of social drinking on health.

Adult↗
PubMed1990

The mental efficiency of the elderly person with type II diabetes mellitus.

Cognitive function is often impaired in type I diabetes mellitus, especially when onset is in early childhood. Limited evidence suggests similar impairment in the much larger population of older persons with type II diabetes. We report here the results of 13 measures of mental efficiency in persons between 65 and 77 years of age without gross mental impairment. Nineteen persons with type II diabetes were compared with 19 controls with normal glycosylated hemoglobin values and to seven persons not previously known to have diabetes but who had elevated glycosylated hemoglobin. Significant differences (P less than .05) between the nondiabetic control and diabetic groups were noted on eight of the 13 tests. The group of subjects with elevated glycosylated hemoglobins showed levels of cognitive performance intermediate between the normal and known diabetic groups on the majority of tests. These findings confirm that mental efficiency is frequently impaired in older persons with diabetes. Given the high prevalence of diabetes in the aging population we suggest that diabetes may be another important factor contributing to premature loss of cognitive abilities in older people.

Aged↗
PubMed1993

The Spot-the-Word test: a robust estimate of verbal intelligence based on lexical decision.

The development of a test aimed at estimating premorbid intelligence is described. The test, Spot-the-Word, involves presenting the subject with pairs of items comprising one word and one non-word, and requiring the subject to identify the word. Data show that performance correlates highly with verbal intelligence as estimated by Mill Hill Vocabulary score and by performance on the National Adult Reading Test (NART). Performance does not decline with age, in contrast to an associated test of verbal recognition memory. A second study attempted to test the effect of intellectual deterioration due to age on Spot-the-Word performance. Elderly subjects who had high vocabulary scores scored well on the Spot-the-Word regardless of whether fluid intelligence as measured by the AH4 test was well preserved, or was low, implying intellectual deterioration. A final study collected normative data on a sample of 224 subjects stratified by age and socio-economic status, with each subject performing two parallel forms of the test, A and B, together with the NART. Correlation between the two forms was .884, while correlation with NART was .831 for Form A and .859 for Form B, suggesting adequate reliability and validity. It is concluded that the test provides a potentially useful additional method of estimating premorbid intelligence.

Adolescent↗
PubMed1989

Intelligence and cognitive profile in the fra(X) syndrome: a longitudinal study in 18 fra(X) boys.

A longitudinal study of IQ and cognitive profile in 18 fra(X) positive boys is reported. At the time of diagnosis, four of the boys were mildly retarded, seven were moderately retarded, and five were severely mentally retarded. Intelligence was borderline in one child and normal in another. A decline in intellectual performance with age in the fra(X) syndrome indicated in previous studies was not confirmed and we review the reported data on this subject.

Adolescent↗