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Biomedical subjects

S M Pueschel

Publications and source records attributed to S M Pueschel.

At least 55 records · Page 3Linked to original sources
PubMed1988

Down syndrome.

Explore the source record for details and available documents.

Down Syndrome↗
PubMed1987

Effects of fenfluramine on the behavior of autistic individuals.

The present report, part of a national, multicenter study to investigate the effects of fenfluramine on autistic behavior, describes findings on four autistic children ranging in age from 7 to 20 years. Additional performance and parental observation measures apart from those of the multicenter study are included. Results of this study which indicated no significant side effects, a reduction in some deviant behaviors and an improvement in activity level/attention span, provide support for earlier reports. The possibility that fenfluramine's apparently positive effects might be to simply reduce inappropriate behaviors via lethargy was examined and not supported.

Adolescent↗
PubMed1987

Cognitive and learning processes in children with Down syndrome.

The primary purpose of this investigation was to study cognitive and learning processes in children with Down syndrome using a recently developed instrument, the Kaufman Assessment Battery for Children (K-ABC). The results obtained from 20 children with Down syndrome were compared with those of 20 younger brothers and sisters of children in the experimental group and 20 mental age-matched nonretarded children. As predicted both the siblings (corrected for mental age) and the nonretarded children performed significantly better on both the Sequential and the Simultaneous Processing Scales of the K-ABC. However, there was no significant difference when the results of the Sequential Processing Scale were contrasted with those of the Simultaneous Processing Scale in all three groups. When subtests that use auditory-vocal (Number Recall) and auditory-motor (Word Order) channels of communication were compared with subtests that employ visual-vocal (Gestalt Closure) and visual-motor (Hand Movement) channels of communication, children with Down syndrome performed significantly better on the latter two tests than on the former two tests. The implications of these results as they relate to designing appropriate educational strategies for children with Down syndrome are discussed.

Analysis of Variance↗
PubMed1987

Atlantoaxial instability in Down syndrome: roentgenographic, neurologic, and somatosensory evoked potential studies.

To identify patients with Down syndrome and asymptomatic atlantoaxial instability who are at increased risk for developing neurologic symptoms, we studied 27 patients with this skeletal disorder and compared them with an age- and sex-matched group of 27 patients with Down syndrome without atlantoaxial instability. A third group of six patients had symptomatic atlantoaxial instability. The mean atlanto-dens intervals and the mean spinal canal widths among the three groups were significantly different. There were no significant differences in mean composite neurologic scores and somatosensory evoked responses between patients in the asymptomatic group and those in the control group. However, when a subsample of patients with high and low latencies (greater than 1 SD below and above the mean) was formed and comparisons were made with roentgenographic findings, there was a high correspondence between somatosensory evoked potential latencies and atlanto-dens interval measurements. We conclude that no single assessment technique, but a combined approach using roentgenographic, CT scan, neurologic, and neurophysiologic investigations, will provide information of the risk status of patients with Down syndrome and atlantoaxial instability.

Adolescent↗
PubMed1987

Klinefelter syndrome and associated fragile-X syndrome.

During screening of male individuals for Fragile-X syndrome in a residential facility for persons with mental retardation, the authors found a 21-year-old profoundly retarded man who displayed facial features and behaviour suggestive of Fragile-X syndrome. The chromosome analysis revealed 47,fra(X)(q27)fra(X)(q27)Y. His physically and intellectually normal sister had 14% of X chromosomes with a fragile site. Her two sons, who were subsequently examined, were found to have Fragile-X syndrome. Thus, the identification of Fragile-X syndrome in the proband during the screening process of a large institution led to the investigation of the proband's family and the subsequent diagnosis of Fragile-X syndrome in the proband's two nephews. The ascertainment of the two affected boys permitted prompt introduction of early intervention and special education services. Genetic counselling of other at-risk family members was carried out.

Adult↗
PubMed1987

Partial trisomy 2p.

A 4-year-and-10-month-old girl was referred to the Child Development Center, Rhode Island Hospital, Providence, Rhode Island, USA, for evaluation because of mental retardation. She was found to have short stature, congenital heart disease and dysmorphic facial features. A chromosome analysis revealed an unbalanced translocation with trisomy of the distal part of the short arm of chromosome 2 (2p21----2pter). A balanced reciprocal translocation was identified in the maternal karyotype 46,X,t(X;2)(q28;p21). The phenotype of partial trisomy 2p is discussed.

Child, Preschool↗
PubMed1987

Pseudodementia in the mentally retarded. A case report and review.

Intellectual and behavioral deterioration in an individual who is mentally retarded presents a diagnostic challenge to the clinician, since the deterioration may be the result of the primary disorder or a new process. The mentally retarded individual's limitations in communication make the diagnostic assessment more difficult. The authors report the case of pseudodementia in a mentally retarded teenager presumed to have been caused by impacted otic cerumen and corrected by removal of the cerumen. The discussion includes a review of medical, neurologic, psychiatric, and environmental causes of intellectual and behavioral deterioration.

Adolescent↗
PubMed1987

Atlantoaxial instability in individuals with Down syndrome: epidemiologic, radiographic, and clinical studies.

Atlantoaxial instability is a relatively frequent finding in individuals with Down syndrome. We examined 404 patients with this chromosome disorder and observed their atlanto-dens intervals and spinal canal widths to be significantly different from children without Down syndrome. Significant differences were also noted between boys and girls with Down syndrome in spinal canal widths but not in atlanto-dens interval measurements. When different neck positions were compared, measurements obtained in flexion were significantly greater than in extension or in neutral position. In addition, more patients had greater than or equal to 5 mm atlanto-dens interval measurements in flexion than in extension or neutral. A total of 59 (14.6%) of 404 patients displayed atlantoaxial instability. Fifty-three (13.1%) patients had asymptomatic atlantoaxial instability, and special precautions will have to be taken with this group of children. Six (1.5%) patients had symptomatic atlantoaxial instability who underwent surgery to prevent further injury to the spinal cord. In our follow-up studies of 95 patients with Down syndrome, we did not find any significant changes during either clinical or radiographic reexaminations.

Adolescent↗
PubMed1986

Parents' and physicians' perceptions of facial plastic surgery in children with Down's syndrome.

This study was designed to investigate both parents' and physicians' attitudes and perceptions concerning facial plastic surgery in persons with Down's syndrome. The results of this inquiry revealed that more physicians (63%) than parents (28%) feel that the children's facial features negatively affect their social development; most parents (85%) see their children well accepted by society whereas only 4% of physicians do so; approximately half of the physicians (51%) and parents (41%) thought that after hypothetical facial plastic surgery a child with Down's syndrome may accomplish more socially; the majority of the parents (92%) and physicians (76%) were concerned with the risk of the operation; and only 13% of parents but 44% of physicians indicated that facial plastic surgery should be done on children with Down's syndrome.

Adaptation, Psychological↗
PubMed1986

Relationships among maternal and fetal amino acid blood concentrations and amniotic fluid amino acid levels in pregnant rhesus monkeys.

This study was designed to explore relationships among maternal and fetal amino acid blood concentrations and amniotic fluid amino acid levels in pregnant rhesus monkeys. Although there was no constant pattern for all amino acids in the three body fluids, we observed specific patterns for most neutral amino acids, imino acids, and acidic amino acids relative to their concentrations in maternal blood, fetal blood, and amniotic fluid. Moreover, there was no correlation between fetal phenylalanine blood levels and phenylalanine concentrations in amniotic fluid indicating that amniotic fluid phenylalanine levels would not be useful to monitor fetal phenylalanine blood concentrations during pregnancy.

Amino Acids↗
PubMed1985

Adolescent development in males with Down syndrome.

We investigated growth features, development of primary and secondary sex characteristics, and specified pituitary and testicular hormone levels in 46 male adolescents and young adults with Down syndrome. Their mean height age was significantly less than and their mean bone age was slightly more than their chronological age. The subjects' secondary sex characteristics followed the same developmental pattern noted in youngsters without Down syndrome. Penile length and circumference and testicular volume of our patients with Down syndrome were not statistically different from those of normal adolescents. Follicle-stimulating hormone, luteinizing hormone, and testosterone levels in our study population were similar to those reported for normal adolescents during sexual maturation.

Adolescent↗
PubMed1985

Thyroid dysfunction in Down syndrome.

We investigated the thyroid function of 151 patients with Down syndrome. Compared with a control group of 89 siblings nearest in age to their brother or sister with Down syndrome, the mean thyroid-stimulating hormone (TSH) value was significantly higher in patients with Down syndrome than in subjects without Down syndrome. However, the mean thyroxine (T4) levels in both groups were nearly the same. In the Down syndrome group there was a trend for TSH values to increase and for T4 values to decrease with advancing age. Of the 151 patients with Down syndrome, ten had both significantly elevated TSH levels (greater than or equal to 9.5 microU/mL) and significantly decreased T4 levels (less than or equal to 5.5 micrograms/dL), 21 had only abnormally high TSH values, seven had only markedly increased T4 levels (greater than or equal to 12.0 micrograms/dL), and three had only significantly decreased T4 levels. The intellectual function of patients with both abnormal TSH and T4 levels was significantly lower (mean IQ, 41.7) than that of Down syndrome patients with only increased TSH values (mean IQ, 53.8) and that of Down syndrome patients with normal thyroid function (mean IQ, 55.3). This study provides further evidence that there is an increased prevalence of thyroid dysfunction in patients with Down syndrome.

Adolescent↗
PubMed1985

Changes of counseling practices at the birth of a child with Down syndrome.

In our investigations of counseling practices at the birth of a child with Down syndrome, we observed significant changes during the past decades. The term Down syndrome is now more often used than in previous years, when the term mongolism was commonly employed. Today both parents are often present during the initial counseling session, and pediatricians are frequently involved in communicating the diagnosis to parents. Presently, parents are told of the child's condition earlier than in past decades, and they find the physician's counseling to be more positive and supportive. Today many more physicians advise parents to raise their child in the home, whereas previously institutionalization was commonly recommended. In spite of these positive changes, several parents expressed their dissatisfaction with the physician's approach to counseling at the birth of their child with Down syndrome. Suggestions are provided for appropriate counseling.

Counseling↗