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Biomedical subjects

D A Trauner

Publications and source records attributed to D A Trauner.

At least 19 recordsLinked to original sources
PubMed1997

Academic achievement in individuals with infantile nephropathic cystinosis.

The present study examined academic skills in children and young adults with infantile nephropathic cystinosis. Cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in various tissues and organs, including the kidney, cornea, thyroid, and brain. Individuals with cystinosis have normal intelligence but subtle visual processing impairments. Subjects were 19 children and young adults with cystinosis and 19 age-, sex-, and IQ-matched controls. All subjects had IQs within the normal range. On a test of academic achievement, mean standard scores for cystinosis and control subjects, respectively, were as follows: arithmetic 89.95 +/- 13.77 vs. 102.16 +/- 9.62; spelling 90.68 +/- 18.81 vs. 98.00 +/- 10.96; reading 97.47 +/- 15.59 vs. 98.58 +/- 12.41. Multivariate analysis of variance revealed a significant main effect for Group (P = .009); there was no main effect for Sex, nor was there a Group x Sex interaction. Univariate follow-up tests indicated that the cystinosis group performed significantly more poorly than did controls on the arithmetic subtest (P = .001) and that there was a trend (P = .085) toward poorer performance by the cystinosis group on the spelling subtest. Regression analyses revealed no evidence of a developmental lag or deterioration of function with age. The visual processing deficits previously identified in these individuals may underlie the academic difficulties observed here. It is possible that both visual processing and academic difficulties may reflect a common mechanism of selective cortical damage by this genetic defect.

Achievement↗
PubMed1996

Disorders of affective and linguistic prosody in children after early unilateral brain damage.

Prosody is that quality of speech that imparts meaning by changes in intonation, pitch, and stress. The right hemisphere (RH) appears to be dominant for affective prosody in adults, while the left hemisphere (LH) mediates the more linguistic aspects of nonverbal communication. Few similar studies have been reported of individuals who suffered early unilateral brain damage, when brain reorganization or plasticity might be expected to play a role in ameliorating the adverse effects of focal brain damage. In this study, comprehension and expression of affective and linguistic prosody were tested in subjects with documented unilateral brain damage of pre- or perinatal onset and in matched controls. Both RH- and LH-lesion groups demonstrated difficulty on tasks involving expression of affective prosody, and on tests of linguistic prosody, compared with controls. Only the RH-lesion group was impaired on an affective comprehension task. The results indicate that even after very early unilateral brain damage, prosodic deficits may be present. However, only for affective comprehension does the side of the lesion appear to determine such deficits. The findings suggest that during brain development there is not clear brain lateralization for prosody and there may be bilateral representation for these skills during early development. There may be limitations to the ability of the developing brain to reorganize after early injury.

Adolescent↗
PubMed1996

Visuomotor performance in children with infantile nephropathic cystinosis.

Infantile nephropathic cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in various organs, including the kidney, cornea, thyroid, and brain. Despite normal intellect, individuals with cystinosis may have specific impairments in the processing of visual information. To examine further the specific types of deficits in visual processing found in individuals with cystinosis, we administered the Development Test of Visual-motor Integration to 26 children with cystinosis (4 to 16 yr. old) and 26 matched controls. The cystinosis group achieved a significantly lower standard score, raw score, and mean ceiling than did the control group. Qualitative analyses showed that in the cystinosis group, size within errors and rotation errors were more prevalent than in the control group. Correlational analyses showed that with advancing age, the cystinosis subjects tended to fall further behind their chronological age. Our data, together with the findings of previous studies, suggest that the visuospatial difficulties in children with cystinosis may be due to inadequate perception or processing of visually presented information. Furthermore, the increasing discrepancy with age may reflect a progressive cognitive impairment, possibly as a result of cystine accumulation in the brain over time.

Adolescent↗
PubMed1994

Global intellectual deficits in cystinosis.

Fourteen families of children with infantile nephropathic cystinosis were evaluated using the Stanford-Binet Intelligence Scale, Fourth Edition [Thorndike et al., 1986: Stanford-Binet Intelligence Scale, Fourth Ed.]. The IQs of 15 children with cystinosis, their 23 sibs and 24 parents were compared in order to evaluate a potential effect of cystinosis on intelligence. Children with cystinosis had a significantly lower mean IQ than their sibs and their parents (P = .001). Thus, even though the mean IQ of the children with cystinosis (94.4 +/- 10) was within the average range, there is evidence that these children have a mild global intellectual deficit relative to their expected IQ based upon the IQs of other relatives. In addition, to a subset of the subjects we administered a measure of scholastic ability, the Wide Range Achievement Test-Revised [Jastak and Wilkinson, 1984: The Wide Range Achievement Test-Revised], which consists of spelling, reading, and arithmetic subtests. The 11 cystinosis subjects scored significantly lower (P = .01) than their 16 sibs and their 14 parents in the area of spelling, whereas they did not significantly differ in their performance in the areas of reading and arithmetic.

Absenteeism↗
PubMed1994

Cognitive impairment in adults with Down's syndrome: similarities to early cognitive changes in Alzheimer's disease.

Postmortem studies of brains from adults with Down's syndrome (DS) reveal a dramatic age-dependent increase in the incidence of neuropathology associated with Alzheimer's disease (AD). By the age of 40 years, virtually all DS individuals have AD neuropathology. Documentation of cognitive correlates of this phenomenon has been difficult, partly because of the preexisting mental retardation in DS. In the current study, we compared a group of adults with DS, 22 to 51 years old, with a matched control group on various behavioral measures such as savings scores, which are known to be sensitive in detecting early dementia in AD patients. By using the short delayed savings score from the California Verbal Learning Test (a test of verbal memory), a subgroup of DS adults was identified as memory-impaired. This group demonstrated a decline in performance on various other cognitive tests with advancing age, whereas another group identified as having non-memory-impaired DS, and the non-DS controls, showed no evidence of decline with age. These results provide evidence for the presence of early dementia among adults with DS within an age range in which neuropathologic manifestations of AD are predicted to be developing.

Adult↗
PubMed1993

Comprehension and expression of affect in language-impaired children.

Eight children with developmental language impairment (LI) and eight age-, sex-, socioeconomic-status-, and I.Q.-matched controls were given tests of comprehension and expression of affective intent in spoken language and through facial expression. The LI children performed significantly more poorly than did controls in both comprehension and spontaneous expression of vocal affect. On tasks involving emotional facial expression, the opposite results were observed: The LI children were more dramatic in their expression of facial affect than were the controls. Children with language impairment appear to have a deficit in affective comprehension and expression that is modality-specific, i.e., limited to vocal affect. The heightened range of affective facial expression that they demonstrate may be a compensatory mechanism to offset their difficulties with vocal affect.

Adolescent↗
PubMed1991

Neurophysiologic studies of the peripheral nervous system in nephropathic cystinosis.

Cystinosis is an autosomal recessive metabolic disorder in which nonprotein cystine accumulates within most body tissues due to a defect in lysosomal cystine transport. Neurologic declarations are only recently being recognized. We studied 13 cystinotic subjects (aged 5 to 21 years old), determining median motor and sensory nerve conduction velocities, F waves, peroneal motor nerve conduction velocities, sural sensory nerve conduction velocities, median sympathetic skin response, electrocardiogram R-to-R variability, and blink reflex analysis. The results were normal. We conclude that neurophysiologic testing suggests relative sparing of the peripheral nervous system in nephropathic cystinosis.

Adolescent↗
PubMed1991

Maturation of human cerebrum observed in vivo during adolescence.

In the present study using magnetic resonance imaging (MRI), age changes in the morphology of the cerebral cortex, greatest in the frontal and parietal convexities, were observed during adolescence. Results suggest that increases in cerebrospinal fluid (CSF) within the sulci of these cortical regions accompany grey matter decreases. Smaller reductions in volume are also observed in subcortical grey matter nuclei. These apparent grey matter volume reductions presumably reflect processes of late brain maturation. The changes may be related to decreasing neural plasticity.

Adolescent↗
PubMed1988

Inhibition of fatty acid beta oxidation by influenza B virus and salicylic acid in mice: implications for Reye's syndrome.

Injection of concentrated influenza B/Lee/40 virus into 4-week-old Balb C mice resulted in 60% inhibition of 14C-palmitate oxidation in isolated hepatic mitochondria. Oral feeding of carnitine to infected mice prevented the inhibition of fatty acid oxidation. High concentrations of salicylic acid given orally also inhibited 14C-palmitate oxidation. Serum free fatty acid concentrations of infected mice and of those fed salicylic acid were significantly higher than in control mice. A combination of low-dose virus and low-dose salicylic acid inhibited palmitate oxidation, suggesting an additive effect on the metabolic derangement when the two agents were present simultaneously.

Animals↗
PubMed1986

Therapeutic effects of a ketogenic diet in Rett syndrome.

Seven girls (age 5 to 10 years) with Rett syndrome were investigated extensively. In 6 patients elevations of blood pyruvate were found. Blood lactate levels were marginally elevated. Two patients had variably elevated blood glucose levels. Metabolic studies were otherwise normal apart from minimally elevated blood ammonia levels in 3 of 5 patients tested, 2 of whom were on valproic acid. All 7 patients had anticonvulsant resistant seizures. EEG changes included generalized slowing and multifocal spike wave discharges, and pseudo-periodic burst-suppression patterns during sleep. Respiratory monitoring revealed apneic episodes only during the waking record. Six patients were below the 5th centile for weight despite normal caloric intake. Treatment with ketogenic diets, using medium chain triglyceride (MCT) oil when possible, has improved seizure control in the 5 patients who could tolerate the diet. Slight behavioral and motor improvement has occurred in these 5 patients and 6 of 7 patients on high fat diets have gained weight. With a possible defect in carbohydrate metabolism and a difficult seizure disorder, use of a ketogenic diet is logical and appears to produce clinical benefit in patients with Rett Syndrome.

Ammonia↗
PubMed1985

Olivopontocerebellar atrophy with dementia, blindness, and chorea. Response to baclofen.

Olivopontocerebellar atrophy is a hereditary disorder that has variable clinical manifestations. Five types have been described, as well as a sixth that contains sporadic cases. This report describes a family with three affected members who demonstrate a composite of types III and V. Their features include progressive spasticity, ataxia, dementia, visual loss with retinal pigmentation, dysarthria, ophthalmoplegia, and chorea. This family might represent an additional category of the disease. In the two family members who developed chorea, baclofen resulted in marked improvement with abolition of the choreiform movements. Response has been sustained for several years in the mother and for eight months in the daughter. Neither has experienced any return of chorea while receiving treatment. When attempts were made to discontinue baclofen, choreiform movements returned promptly and with their original severity. Baclofen, a gamma-aminobutyric acid analogue, may be useful in the treatment of other forms of chorea as well.

Adolescent↗
PubMed1985

Medium-chain triglyceride (MCT) diet in intractable seizure disorders.

Seventeen patients with intractable seizures have been treated with the medium-chain triglyceride (MCT) diet. All had frequent (often daily) seizures despite multiple medications. Age range was 12 months to 13 years. Types of seizures included myoclonic, akinetic, focal motor, atypical absence, generalized tonic, and tonic-clonic. Five patients achieved total seizure control, and anticonvulsants were decreased or stopped. Five others had some improvement in seizure control. No change was seen in two. In two cases, parents could not deal with the diet, even though total control had been achieved in one case. The diet had to be discontinued in three others because of side effects (diarrhea, vomiting, irritability). Intractable seizures of all types may respond to treatment with the MCT diet. This mode of therapy has few side effects, is tolerated well in most instances, and can result in reduction or discontinuation of anticonvulsant medications.

Adolescent↗