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L M Curfs

Publications and source records attributed to L M Curfs.

30 records · Page 2Linked to original sources
PubMed1991

Strengths and weaknesses in the cognitive profile of youngsters with Prader-Willi syndrome.

In this report we present the results of a study of the intellectual functioning and cognitive profile of 26 Prader-Willi syndrome (PWS) patients. The mean IQ score was 62.3 (range 39-96). In 13 patients a significant difference between verbal and performance IQ was found. In 10 of them the performance IQ was higher than the verbal. The results of subtest analysis indicate that cognitive strengths are more visible than cognitive weaknesses. Highest scores were noted especially in the performance scale, i.e. Block Design (9 children) and Coding or Mazes (5 children). Analysis of all available data indicates that PWS patients score better on visual motor discrimination skills than on auditory verbal processing skills. These results are promising for intervention programs and education strategies.

Adolescent↗
PubMed1991

Behavioral and emotional problems in youngsters with Prader-Willi syndrome.

In this study we document the behavioral/emotional problems of 27 Prader-Willi syndrome (PWS) subjects assessed with the Achenbach Child Behaviour Checklist. Compared with normal subjects of the same age and sex, PW subjects showed significantly more problem behaviour. Of the PWS subjects 87% had total problem scores in the clinical range. No significant difference was found in the proportion of Prader-Willi patients scored in the clinical range on the Internalizing over the Externalizing syndrome. The need for systematic attention towards behavioral/emotional problems when PWS patients enter adolescence is emphasized.

Adolescent↗
PubMed1991

Intelligence and the fra(X) syndrome: a review.

In this paper we review the data on intelligence in fra(X) males reported up to now in the literature, with special attention to its evolution with age. The available data suggest a decline in intellectual functioning in relation to age. These findings, however, should be interpreted with caution because of sampling and other methodological problems related with the fra(X) screening procedures and programs in general.

Adolescent↗
PubMed1990

The 49,XXXXY syndrome: clinical and psychological findings in five patients.

In this study clinical and psychological findings are presented in five 49,XXXXY patients. Their degree of mental retardation varied greatly, i.e. from moderately to profoundly retarded. A decline in intelligence performance with age was observed in one boy. Language development was severely retarded with a remarkable discrepancy between language expression and comprehension. Emotional disturbances with low frustration level, timidity and shyness were noted in all five and their level of adaptive functioning was much higher than the cognitive level.

Abnormalities, Multiple↗
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↗
PubMed1989

Strengths and weaknesses in the cognitive profile of fra(X) patients.

In this paper we present data on the cognitive abilities analyzed by systematic, standardized psychometric testing in 18 fra(X) boys who participated in a multicenter, longitudinal study. In the majority of the patients no significant differences were found between verbal and performance intelligence. Higher performance IQ than verbal IQ was found primarily in higher functioning fra(X) males, indicating a possible effect of level of functioning on the direction of verbal-performance IQ differences. Subtest-analyses showed lowest performances in Number Concept and Arithmetic Skills, whereas better performances were reached in Object Assembly and Picture Completion. These data are discussed and compared with the results in previous studies reported up to now.

Adolescent↗
PubMed1988

A systematic cytogenetic study of a population of 1170 mentally retarded and/or behaviourly disturbed patients including fragile X-screening. The Hondsberg experience.

A cytogenetic study was performed in a population of 1170 mentally retarded and/or behaviourly disturbed patients of the Hondsberg Institute in the south of the Netherlands. The cytogenetic data are presented and discussed. In all patients chromosomal evaluation was performed with Giemsa-banding and Quinacrine fluorescence, and additional banding techniques were performed whenever they were necessary to clarify the chromosomal abnormality. A fragile X screening with M199 cultures was performed in 311 males. In 22.1% of the patients a chromosomal basis was found for their developmental retardation: 14.3% Down syndrome patients, 6.1% other chromosomal abnormalities (mainly partial autosomal trisomies and monosomies and sex-chromosome abnormalities). In 24 males, through 21 index patients, a positive fragile X screening was found, i.e. 6.7% of the screened population and 1.8% of the total population. These results indicate that the diagnostic contribution of the fragile X screening is numerically of equal importance as are advanced chromosome banding techniques, and its contribution to the diagnosis of fragile X syndrome in one index male patient in general leads to the detection of several female relatives at risk to be carrier of this X-linked recessively inherited condition. The causal relationship between the occurrence of mental retardation and chromosomal aberration in genera i.e. autosomal trisomies, partial autosomal trisomies and monosomies, and Xq27-28 fragility is well established and is, to some extent, easy to understand. Whether carriers of other chromosomal rearrangements, mainly of balanced reciprocal and Robertsonian translocations, small extra chromosomes, paracentric inversions and chromosomal variants, have increased risk for mental handicap and/or congenital malformations in their progeny, remains unclear at the present time. Some of these residual problems and questions are discussed in the perspective of their importance for genetic counseling. Detailed data will be presented about the mental development and psychological profile of patients with these different types of chromosomal abnormalities and rearrangements.

Chromosome Aberrations↗
PubMedDate not supplied

Relationship between age and IQ among fragile X males: a multicenter study.

Longitudinal decline in IQ among fragile X males was reported recently. However, there are problems in retesting IQ that may affect scores. Two such factors are intertest time interval and score obtained on the first test. To determine the generality of IQ score changes, we examined 101 fragile X males from 6 centers. To ensure high test-retest reliability, only results from Stanford-Binet and Wechsler tests were used. Thus there were retest scores from 60 subjects. Test-retest reliability between first and last scores was very good (r = 0.85) and comparable to those seen in nonfragile X mentally retarded individuals. Also computed were z-scores of differences in IQ scores. The z-score differences were distributed about a mean at 1 SD below the expected zero value. Eighteen subjects showed statistically significant decreases in IQ, 6 showed statistically significant increases, while 5 showed the same scores. Z-score differences were not correlated with type of residence or elapsed intertest interval, but were negatively correlated with first score obtained, indicating a regression-to-the-mean effect. Using a multiple regression analysis, we found first score obtained, age tested, and age retested significant predictors of score differences, accounting for 19% of the total variance. These results suggest that factors previously identified as affecting retest scores have a smaller effect than originally thought. It is suspected that decline in IQ is associated with dynamic neurological processes and needs to be investigated further.

Adolescent↗
PubMedDate not supplied

Longitudinal changes in IQ among fragile X males: clinical evidence of more than one mutation?

Longitudinal changes in IQ among mentally retarded (MR) fragile X [fra(x)] males have been reported previously. While age is associated with decline in IQ, not all males are so affected. This suggests that there may be more than one subtype of affected fra(X) male. Therefore, we examined the distribution of standardized difference scores (Zdiff) in IQ to determine if subjects were from an admixture of at least 2 populations. Cluster analysis of Zdiff scores was used to partition subjects into 2 groups. Goodness-of-fit tests indicated that scores were more likely to come from an admixture. Discriminant functions (DF) were calculated to determine predictive validity of Zdiff scores. To eliminate the effect of skewing, a power transform was applied to Zdiff scores and DFs recomputed. Zdiff and transformed scores provided similar results. The mean and variance for one group showed no differences in test-retest scores as would be expected from examining any population while the mean for the second group indicated significant decline in IQ nearly 4 standard errors below the first test score. These results suggest that there may be clinical evidence for 2 types of fra(X) mutation: One which causes MR but is static, and a second mutation which causes MR but is dynamic and contributes to an apparent longitudinal decline in cognitive function.

Adolescent↗