A case of autism and mosaic of trisomy 8.
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Biomedical subjects
Publications and source records attributed to L Burd.
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This is a case report of a 15-year-old visually impaired, mentally retarded male who presents with symptoms consistent with Tourette Syndrome, a Syndrome of approximate answers (Ganser's Syndrome) and Atypical Pervasive Developmental Disorder. The authors feel that this follow-up on the case presented earlier by Parraga and Butterfield raises the possibility of a link between a number of the symptoms of adult schizophrenia, appearing in attenuated form in these two cases, and Tourette Syndrome.
A patient with hyperlexia and hypergraphia is described. The unusual co-occurrence of these two abilities is discussed. Hyperlexia may provide a useful marker to guide educational programming.
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Two patients with tic disorders and intermediate hallucinatory experiences are described. It is suggested that clinicians evaluating patients with tic disorders may wish to inquire routinely about unusual auditory experiences. Further research will be necessary to determine the implications of these experiences among children with tic disorders.
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A family with fragile-X syndrome is reported. One sibling has atypical pervasive developmental disorder and moderate mental retardation. A second sibling has Tourette's syndrome, moderate mental retardation, seizure disorder, and autism. A third sibling has attention deficit disorder, moderate mental retardation, and developmental language disorder, expressive type. The authors believe that this family represents a classic example of the differential outcome of interactions of common biogenetic and environmental influences. We propose that in this family the multipotential outcome is at least influenced by if not caused by a common genetic defect.
A time-estimation survey was administered to 266 control children and 72 learning disabled children in Grades 4, 5, and 6. Using a 2 X 3 X 3 analysis of covariance significant main effects for group membership and grade were found. These data indicate that learning disabled youngsters frequently do not estimate time as accurately as normal ones.
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The records of 117 patients who had serial nonstress tests (N = 285) and oxytocin challenge tests (N = 268) were analyzed to determine whether baseline uterine contractility and/or oxytocin sensitivity changed with increasing gestational age. The results obtained in patients who were delivered before, at, and after term were compared. Uterine contractility and oxytocin sensitivity increased in all groups as gestational age progressed. No significant differences in uterine contractility were noted among groups; however, oxytocin sensitivity was significantly increased in the preterm group (p less than 0.001) and decreased in the postterm group (p less than 0.001). Our results suggest that the response of the uterus to oxytocin early in pregnancy may help to identify patients who will be delivered before or after term.
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The acid-base balances of 63 neonates delivered either spontaneously or by the vacuum extractor or low forceps were compared. The outcome was similar in neonates delivered by vacuum extractor or forceps. However, significant differences were noted in the pH and base deficit of infants born by instrumental versus spontaneous delivery. These differences were no longer present when groups with similar duration in the second stage of labor were compared. We conclude that the use of instruments for outlet vaginal delivery carries no additional risk for the fetus.
Three cases of fetus papyraceus in twin pregnancy were seen over a 4-month period. They were associated with an antepartum stillbirth and intrauterine growth retardation of the larger twin. Two of the 3 mothers exhibited hypertension. It is concluded, therefore, that the appearance of a fetus papyraceus frequently indicates the presence of a hostile intrauterine environment. We suggest that serial ultrasonic examinations be performed to confirm the diagnosis of fetus papyraceus. In this way, appropriate therapy may be directed toward a better outcome for the second twin.
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