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PubMed1995

Cognitive scores in carriers of Huntington's disease gene compared to noncarriers.

Huntington's disease (HD) is a progressive neurodegenerative disorder recently shown to be due to an excess number of CAG trinucleotide repeats in the 5' translated region of chromosome 4. One of the cardinal features of HD is cognitive decline. While mental deterioration is obvious later in the disease course, the time of its onset is difficult to determine precisely. A sample of at-risk individuals without signs or symptoms of HD by self-report was studied. The Wechsler Adult Intelligence Test--Revised and a neurological rating scale were administered. The genotypes of 394 individuals were then determined by polymerase chain reaction testing. On all portions of the WAIS-R test, the mean score of the HD gene carriers was lower than that of the noncarriers. Scores on two of the performance subtests, the digit symbol and the picture arrangement, were significantly different in the two groups, even after the scores from all gene carriers who were diagnosed as affected based on their neurological motor examination were removed. The scores for the gene carriers on the various subtests were negatively correlated with the number of CAG repeats in the expanded HD allele. Such a relationship was not seen with the normal alleles of the noncarriers. Taken together, our results suggest that a deficit in cognitive function is an early finding of HD and that in this patient population, the degree of cognitive deficit is proportional to the number of CAG repeats in the HD allele.

Adult↗

PubMed2005

Validation of the psychopathic personality inventory on a female inmate sample.

This investigation evaluated the construct validity of the Psychopathic Personality Inventory (PPI; Lilienfeld & Andrews, 1996), a self-report measure designed to assess psychopathy. One hundred and two incarcerated females were administered the Kaufman Brief Intelligence Test (K-BIT), an oral alcohol and drug screening measure, a demographic interview, the Minnesota Multiphasic Personality Inventory-2 (MMPI-2), the Psychopathy Checklist-Revised (PCL-R), and the PPI. There were significant correlations among the PPI, MMPI-2 scales, and the PCL-R. In addition, the correlations between the PPI and the separate PCL-R factors were not significantly different from each other, indicating that the PPI is assessing both facets of the psychopathy construct to some extent. A high correlation between the PPI and the DSM-IV criteria, which assesses adult antisocial behaviors, revealed adequate concurrent validity. Nonsignificant or negligible correlations between the PPI and the MMPI-2 scales provided some support for discriminant validity. The results are discussed with respect to the clinical and forensic utility of the PPI, the limitations of the study, and the need for further research.

Adolescent↗

PubMedDate not supplied

Characteristics of dyslexia in a Dutch family.

This study investigates the characteristics of 19 members of a Dutch family. Nine of them, recognized as dyslexic in their early years, are compared with six non-dyslexic members, whereas four form a non-classified category. From their personal histories, it is clear that the dyslexics had a long and troublesome educational career, while the non-dyslexics did not. However, probably because the dyslexic members had considerable intellectual resources and talents in mathematics and technical skills, most succeeded in getting degrees of a reasonably high standard and jobs that more or less matched their talents. In cognitive terms, differences in non-word processing, independent of response mode (reading, spelling, oral repetition), and in speeded word reading suggest stable deficits in phonological processing and in task-specific automatization. The spelling of words was fairly accurate, possibly because compensatory strategies were used, also indicated by remarks of the dyslexic members. Outside the reading and spelling area, only small and non-significant differences appeared in tasks tapping verbal short-term memory, rapid naming and working memory. However, the predicted discrepancy between the conceptual and the sequential factor of the Wechsler intelligence test was shown by most dyslexics. Two of the four non-classified members of the family, who could not be classified as dyslexic because no early diagnosis was made, but had experienced learning problems at school, showed more or less the same characteristics, but were less successful at school and in society. In the discussion, the use of a family control group in studies with a large age range is recommended.

Adult↗

PubMed1998

The role of orthotopic liver transplantation in the treatment of ornithine transcarbamylase deficiency.

The purpose of this study was to combine our clinical experience with a review of the literature to determine the value of orthotopic liver transplantation in the treatment of both boys and girls with ornithine transcarbamylase deficiency. Three boys younger than 1 year of age with symptomatic ornithine transcarbamylase deficiency (median age, 116 days; range, 40 to 223 days) underwent orthotopic liver transplantation. The patients' growth, developmental progress, ammonia levels, and amino acid levels were analyzed pre- and post-liver transplantation. The clinical courses of the respective patients and the treatment modalities used were compared with published reports from 1978 through 1997. The median follow-up period in these 3 patients was 3.2 years (range, 9 months to 5.2 years). Orthotopic liver transplantation restored normal urea production and stabilized ammonia levels within 24 hours of surgery (median serum ammonia level 24 hours post-liver replacement, 43 micromol/L; range, 30 to 66 micromol/L). After liver replacement, arginine synthesis was normalized; however, plasma citrulline levels remained less than normal in all patients. Linear growth was evaluated in all 3 patients at the time of the most recent follow-up; median z scores for patient height and weight were -2.16 and -1.16, respectively. Standardized intelligence tests showed that 2 of the 3 patients continue to perform at age-appropriate levels. The third child was developmentally delayed pretransplantation at 4 months of age on presentation and continues to perform in a below-average fashion. Orthotopic liver transplantation results in the restoration of normal urea production and serum ammonia levels in the boy suffering from symptomatic ornithine transcarbamylase deficiency. Serum arginine, but not citrulline, levels are normalized, probably because of the persistent intestinal mucosa defect. Patient growth is similar to that in infants undergoing liver transplantation for other causes. When liver transplantation is performed before cognitive impairment occurs, intellectual development is normal, because the risk of additional episodes of hyperammonemia is elevated.

Amino Acid Metabolism, Inborn Errors↗

PubMed1988

Long-term follow-up of children born to mothers with acute leukemia during pregnancy.

Seventeen children born to mothers with acute leukemia who received chemotherapy during pregnancy were examined for physical health, growth, and development. The hematologic and neurologic status and school performance were also evaluated. Chromosomal studies were done in the long-term survivors ranging in age from 4 to 22 years. The children had thorough history and physical examinations to detect any abnormal symptoms or signs. The mothers' previous treatment was documented. In each child growth and development, school performance, intelligence testing, neurologic examination, and hematologic evaluation including bone marrow were normal. Bone marrow cytogenetic studies were also normal. Chemotherapy was given during the pregnancy in each case, including 11 cases during the first trimester. No fetal malformations were found and no late side effects could be demonstrated. The results of this study indicate that pregnancy is not a counterindication for treatment of patients with acute leukemia, and in the cases described here chemotherapy is not associated with excessive risk to the fetus.

Acute Disease↗

PubMed1988

Clinical and neuropsychological results after operative and conservative treatment of arachnoidal cysts of the perisylvian region.

Most supratentorial arachnoid cysts are found in the perisylvian region. They are thin extracerebral fluid filled pouches and occasionally symptoms are caused by space occupation. We have studied 28 cases with these cysts, with follow-up time varying from one to ten years. 8 of the cases presented with a sudden onset of seizures, while 5 cases had a history of seizures dating from childhood. 14 cases underwent surgery, of whom most had histological evidence of previous haemorrhage and some had evidence of subdural haematoma. Surgery was uneventful in all cases regardless of the method used and all had satisfactory outcome. All 28 cases were followed up systematically including intelligence testing and specific testing of memory and other temporal lobe functions. The group scored normal in standardized tests with a distribution similar to the normal population. Results did not show any deficit of function related to the localization of the cyst. Despite of the severity of their initial symptoms, postoperative cases performed just as well at psychological testing. Those cases who continued to experience seizures showed a memory disturbance and seemed to lack initiative. Most cases studied had normal error scores in the dichotic listening examinations. There was no connection between the side of the cyst and a unilateral deficit. The results are discussed.

Adolescent↗

PubMed1983

Neuropsychological studies in children with elevated tooth-lead concentrations. II. Extended study.

Results from neuropsychological tests, collected under double-blind-precautions, were evaluated for 115 schoolage children (mean age: 9.4 years) living in a lead smelter area (Stolberg, FRG). Tooth-lead concentrations (PbT) from shed incisor teeth as measures of longtime lead-exposure were available for these children (mean = 6.16 ppm; range: 1.9-38.5 ppm), and for 83 of them blood-lead concentrations (PbB) were available as well (mean = 14.3 micrograms/dl; range: 6.8-33.8 micrograms/dl). The following functional capacities were tested: intelligence (German WISC), perceptual-motor integration (Göttinger Formreproduktionstest = GFT, Diagnosticum for Cerebralschädigung = DCS), reaction performance (Wiener Determinationsgerät), finger-wrist tapping-speed, and repetitive cancellation-performance (Differentieller Leistungstest). In addition standardized behavior ratings were obtained by the examiners, the mothers, and the teachers. Multiple stepwise regression-analysis (forced solution) was calculated for outcome-variables and Pb-tooth, including age, sex, duration of labor, and socio-hereditary background as covariates. Significant (P less than 0.05) or near-significant (P less than 0.1) association was established between Pb-tooth and GFT-performance (errors), reaction-performance (false reactions), and four behavioral dimensions as rated by the mothers, namely distractability, restlessness, lack of information, and wasting of time; the proportion of explained variance never exceeded 6%, however. No significant association was found between PbT and WISC verbal-IQ after the effects of "socio-hereditary background" had been eliminated, although there was still a tendency for high level-children (PbT greater than 10 ppm) to be inferior to low level-children (PbT less than or equal to 4 ppm) by 4.6 IQ-points after correction for confounding. There was a near-significant, inverse relationship between finger-wrist tapping-speed and Pb-blood. The results are discussed within the framework of attention-deficit disorder, and compared to neurobehavioral Pb-effects from animal-experiments, which provide suggestive evidence for a causal relationship between developmental lead-exposure and certain neurobehavioral deficits.

Child↗

PubMed1978

Evaluation of a remediation program using senior citizens as psychoeducational agents.

A remediation program for learning and psychosocially disabled pupils utilizing senior citizens as paraprofessional aides was evaluated. The senior citizens were effective in developing tutorial relationships conducive for the students' academic and psychosocial development, as indicated by pre- and posttesting. The disabled pupils improved their academic skills, as measured by standardized achievement and intelligence tests and by school grades. Statistical comparison with a control group further demonstrated the significance of the gains. The pupils' psychosocial adjustment also showed significant improvement on various personality assessment measures and behavior ratings by teachers and parents. Finally, self-reports by the senior citizen aides suggest that they also profited by their involvement in STEP.

Achievement↗

PubMed2004

Adult aging and the perceived intensity of emotions in faces and stories.

BACKGROUND AND AIMS: Experience of emotions changes with age: older adults report fewer intense negative emotional experiences, and are less accurate in labelling facial expressions of some negative emotions. However, there is little empirical evidence as to the effect of age on perception of intensity of emotions. This study aims to investigate whether younger and older adults differ in their ratings of the intensity of others' emotions as presented in photographs of faces and descriptions in text. METHODS: Age effects on intensity ratings of emotions (happiness, fear, anger, sadness) from photographs of facial expressions and verbal descriptions of emotions in text were investigated in 91 healthy adult participants. Relationships of these intensity ratings with measures of cognitive ability and current mood were also examined. RESULTS: Older participants perceived lower levels of emotional intensity in sad and happy faces. Compared with the older group, younger adults perceived neutral faces as showing high anger levels. Younger adults also rated protagonists in stories as experiencing high levels of fear. Most of the age differences could be statistically explained in terms of anxiety, depression, and intelligence test scores. CONCLUSIONS: Older adults rate some aspects of emotions portrayed in facial expressions and written text as less intense. This may partly reflect better emotional adjustment with age, as reflected in lower levels of anxiety and depression.

Adaptation, Psychological↗

PubMed1999

Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy.

We present the clinical and neuroimaging findings of five patients (four males, one female; mean age 12 years) affected by congenital myotonic dystrophy and the correlation with their molecular genetic analysis. At birth all five presented severe muscular weakness and hypotonia, associated with feeding difficulties and respiratory distress. In the same patients, congenital clubfoot or more generalized arthrogryposis was also evident. Lymphocyte DNA was characterized in each by a CTG repeat longer than 1300 in the region of the myotonic dystrophy gene in chromosome 19. The patients' neurological condition was evaluated by clinical examination, intelligence tests, electroencephalography, and brain magnetic resonance imaging. All five suffered from some impairment of intellectual function (IQ ranged from 52 to 79). In three a longitudinal evaluation of the cognitive deficit detected no deterioration. In all patients magnetic resonance imaging showed some degree of ventricular dilatation, loosely correlated to the cognitive impairment; in three there was hypoplasia of the corpus callosum and in two mild abnormalities of supratentorial white matter. The relationship between the size of the CTG repeat expansion found in lymphocyte DNA and the cerebral abnormalities appeared inconsistent in this unusual myoencephalopathy of the newborn.

Adolescent↗

PubMed2006

Non-algorithmic access to calendar information in a calendar calculator with autism.

The possible use of a calendar algorithm was assessed in DBC, an autistic "savant" of normal measured intelligence. Testing of all the dates in a year revealed a random distribution of errors. Re-testing DBC on the same dates one year later shows that his errors were not stable across time. Finally, DBC was able to answer "reversed" questions that cannot be solved by a classical algorithm. These findings favor a non-algorithmic retrieval of calendar information. It is proposed that multidirectional, non-hierarchical retrieval of information, and solving problems in a non-algorithmic way, are involved in savant performances. The possible role of a functional rededication of low-level perceptual systems to the processing of symbolic information in savants is discussed.

Adolescent↗

PubMed2002

Early-onset schizophrenia as a progressive-deteriorating developmental disorder: evidence from child psychiatry.

The developmental perspective as reflected by investigations of childhood and early-onset schizophrenia has become a major research area during recent years and contributed much to the understanding of schizophrenia at all ages. This paper reviews clinical features, neurobiological and neuropsychological findings in childhood and adolescent onset schizophrenia including some results of studies of the author on age at onset, premorbid symptoms, treatment and course. Childhood-onset schizophrenia is a rare disorder with a prevalence of one child in 10,000 before the age of 12 and a remarkable increase around puberty and early adolescence. Developmental events and precursors of schizophrenia cover a wide range of dysfunctions and disturbances including elevated rates of soft neurological signs and birth complications, slow habituation and high baseline autonomic activity, high rate of developmental disorders of speech and/or language and overall and specific cognitive deficits. Brain morphological studies and intelligence testing as well as investigations of the course provide evidence of deterioration. Therefore, early-onset schizophrenia can be understood as a progressive-deteriorating developmental disorder.

Adolescent↗

PubMed1990

Effects of birth weight and sociodemographic variables on mental development of neonatal intensive care unit survivors.

Neonatal intensive care unit survivors (N = 494) from 10 tertiary care centers were evaluated over the first 4 to 5 years of life to determine the relative contributions of birth weight and sociodemographic factors to mental development. Six sociodemographic factors were studied: sex, race, family income, and mother's marital status, age, and educational level; the last five factors also are known to be associated with premature birth. Mental development was measured with the Bayley Scales of Infant Development (12 to 24 months) and the Stanford Binet Intelligence Test (4 to 5 years). Each factor's influence was assessed by multivariate analysis. Birth weight had limited long-term implications; at 4 to 5 years, only infants with birth weights less than 1000 gm had significantly lower scores than those in other birth weight categories. Sociodemographic variables had a greater impact on mental development, with age-dependent differences found between nonwhite and white children and between children with mothers of low, medium, and high educational levels.

Adult↗

PubMed1988

Effect of anger on colon motor and myoelectric activity in irritable bowel syndrome.

The present investigation was designed to study the effect of anger on colon motor and myoelectric activity in irritable bowel syndrome. Patients with irritable bowel syndrome were compared with normal controls during resting and two anger stressors: criticism of performance on an intelligence test and during a delay of assistance for a diagnostic procedure. At rest patients with irritable bowel syndrome had higher motor and spike potential activity than normal subjects; however, the difference was only significant for spike activity. Anger significantly increased colon motor and spike potential activity in the groups compared with the resting state. Patients with irritable bowel syndrome produced significantly higher motor and spike potential activity when angered. They also reported themselves to be more hostile and appeared angrier than normal controls after the study. However, they did not report themselves to be more anxious or depressed, suggesting that the observed changes in colonic function of both groups were due to anger. Patients with irritable bowel syndrome scored significantly higher than controls on the Minnesota Multiphasic Personality Inventory scales of hypochondriasis, hysteria, and depression, but these personality factors did not significantly influence their anger level before the study. The results are discussed in terms of the role of learning in the colon and the abnormal reinforcement of bowel behavior in patients with irritable bowel syndrome.

Action Potentials↗

PubMed1992

Supraspinal influences on recurrent inhibition in humans. Paralysis of descending control of Renshaw cells in patients with mental retardation.

The recurrent inhibition of alpha motoneurons was studied in 8 mentally retarded subjects (age 16-35 years), six of whom also had non-pyramidal or extrapyramidal motor alterations, manifesting as rigid and inflexible voluntary and/or postural movements. Despite a similar degree of mental retardation (Raven spatial general intelligence test), the other 2 cases showed much more modest changes in motor behavior. At rest, recurrent inhibition on soleus motoneurons was normal in all patients. In the 6 cases exhibiting more severe motor abnormality, the changes in Renshaw cell excitability, which occur during postural or voluntary contractions in normal subjects, were not found. This expressed the lack of supraspinal influences on Renshaw cells in these patients. On the other hand, supraspinal modulating influences on Renshaw cells were virtually normal in the remaining 2 patients. The absence of excitability changes of recurrent inhibition to postural or voluntary movements is discussed in relation to the abnormality of motor behavior observed in these patients. In addition, since paralysis of adaptive changes of recurrent inhibition has so far only been described in spastic subjects, the present study demonstrates that the descending pathways, which control recurrent inhibition gain, are different from those which, when damaged, lead to spasticity. Finally, our results indicate that the changes in motor behavior often associated with mental retardation cannot be regarded merely as the consequence of defective motor learning.

Adolescent↗

PubMed1988

Migraine and defense mechanisms: psychophysiological relationships in young females.

Two psychological defense mechanisms, repression and self aggression, were studied in 23 young female migraine patients who had not been receiving treatment for their complaints and in 23 relatively headache free matched controls. All subjects were psychology students. Each subject was classified as high or low on repression and self aggression using the defense mechanism inventory. During three separate sessions: adaptation, intelligence test and real-life stress (an examination which was part of the psychology curriculum) pulse amplitudes of the temporal and digital arteries, frontal, temporal and corrugator EMGs, forehead temperature, skin conductance, and heart and respiration rate were measured. The migraine patients showed a trend towards more repression of their emotions and significantly more self aggression than the controls. Self aggression appeared to be positively associated with the headache frequency in the migraine group. With regard to the physiological measurements, in both groups repressors showed a modest tendency to enhanced sympathetic activity. Self aggression was not found to be related to any physiological measure of sympathetic activity, but, instead, related to less temporal blood flow. In general, associations were found between psychological defense mechanisms and physiological activity, which is suggestive of the existence of physiological pathways along which emotional inhibition might contribute to an attack of migraine after a stressful situation.

Adult↗

PubMed1984

Prescription medication dependence and neuropsychologic function.

The abuse of prescription drugs is an insidious complication among patients with chronic pain. This study examines cognitive intellectual functions in patients with chronic pain who are using prescribed analgesics, sedatives and hypnotics. A comprehensive battery of psychologic tests measuring intelligence, learning, memory, sensory-perceptual integrity, motor skills and general adaptive abilities was administered to 47 subjects. The subjects were patients admitted to a chronic pain management program, and they were divided into drug-dependent, drug-abusing and non-drug-abusing groups according to strictly defined criteria. Findings indicated that the prescribed use of these medications for pain over a prolonged time is detrimental to the cognitive function of such patients and complicates their clinical management.

Adult↗

PubMed1988

Smoking patterns during cognitive performance.

Studies on the effects of smoking and performance in learning and memory tasks have followed one of two strategies: (a) either subjects are required to smoke at fixed intervals and/or rates, or (b) subjects are permitted to smoke freely in the absence of any monitoring or observation of smoking acts. The present studies allowed free smoking within a structured context, while exposed to intelligence test items for 30 seconds. Subjects were observed to vary their smoking acts (puffing, tapping) as a function of the temporal characteristics of the task. Subjects followed the same pattern across two independent studies. Such findings have clear implications for smoking studies since they indicate that how and why subjects smoke may (a) vary with context, and (b) affect different task inputs.

Adult↗