Search PubMed⌕ Search

Biomedical subjects

S M Pueschel

Publications and source records attributed to S M Pueschel.

At least 109 records · Page 6Linked to original sources
PubMed1976

Birth weight of children with Down's syndrome.

The difference in birth weight between children with Down's syndrome and their siblings was estimated to be in the interval from .18 to .37 kg with 90 percent confidence, the Down's syndrome infants having the smaller mean birth weights. When we adjusted their birth weight, using a multiple linear regression analysis, to take into account several factors known to affect it, the difference in birth weight was only slightly less than the unadjusted difference. The data support the hypothesis that an extra chromosome No. 21 results in a smaller than expected birth weight.

Birth Order↗
PubMed1975

Electroencephalographic findings in children with phenylketonuria.

The electroencephalographic findings of 90 patients with phenylketonuria (PKU) who were observed in one clinic were critically reviewed. Seventy-three percent of patients with classical PKU that was diagnosed and treated early (group 1) were found to have normal EEGs, 23% had mild background abnormalities, and 4% had paroxysmal discharges. Only 31% of the patients in whom PKU was diagnosed after 6 months of age (group 2) had normal EEGs, while 24% had background abnormalities and 45% had paroxysmal discharges. Of the patients with atypical PKU (group 3), 62% had normal EEGs and 38% showed background abnormalities. No major changes in EEG patterns were noted with initiation or termination of the low phenylalanine diet. There was no correlation between the degree of dietary control, EEG findings, and intellectual performance in group 1.

Brain↗
PubMed1974

Neurological and psychomotor functions in children with an increased lead burden.

Fifty-eight children with an increased lead burden underwent comprehensive investigations and were reevaluated 1(1/2) to 3 years later. Of these children 23-27% were noted to have minor neurological dysfunction and various forms of motor impairment during each evaluation. While the initial psychological assessment revealed low average mental abilities in the majority of children, during follow-up examination a significant increase in certain areas of intellectual functioning was observed.

Acute Disease↗
PubMedDate not supplied

Infantile sialic acid storage disease associated with renal disease.

A child with infantile sialic acid storage disease is reported. Ultrasonography demonstrated fetal ascites. At birth, the infant appeared hydropic and presented with numerous dysmorphic features, including sparse white hair, coarse facies, hypertelorism, epicanthal folds, anteverted nostrils, and a long philtrum. In addition, he had visceromegaly, bilateral inguinal hernias, and a slight gibbus deformity. Lymphocytes were vacuolated and bone marrow contained large numbers of foam cells. There were generalized vacuolations of both reticuloendothelial and parenchymal cells in the examined tissues. Neuropathologic studies revealed wide-spread neuronal storage, myelin loss, axonal spheroids, and gliosis. Neurons, endothelial cells, and Kupffer cells stained with wheat germ agglutinin indicated an accumulation of sialic acid. Free sialic acid was significantly increased in urine and serum, as well as in liver, heart, and brain tissues. The alpha-neuraminidase activity was normal. It is assumed that the basic defect of infantile sialic acid storage disease lies in impaired transport of sialic acid across the lysosomal membrane.

Brain↗
PubMedDate not supplied

Growth hormone response after administration of L-dopa, clonidine, and growth hormone releasing hormone in children with Down syndrome.

We studied the response of growth hormone secretion after the administration of L-dopa, clonidine, and growth hormone releasing hormone in eight growth-retarded children with Down syndrome aged 1 to 6.5 years. After L-dopa administration, five children had low growth hormone secretion (M = 3.7 ng/ml, SD = 2.12 at 30 min) and three children had elevated growth hormone levels (> 30 ng/ml). After clonidine administration, six children had relatively low growth hormone levels (M = 3.15 ng/ml, SD = 2.53 at 60 min) and two children had high levels (38.3 ng/ml and 16.8 ng/ml, respectively). There was a better response after growth hormone releasing hormone administration; only one child had a growth hormone level of < 10 ng/ml. Most of the children had a modified response of growth hormone secretion subsequent to the various stimulation tests. All children, however, were able to secrete some growth hormone (> or = 10 ng/ml) at least during one of the stimulation tests. In comparison with peak growth hormone levels reported in normal children, our cohort had significantly lower growth hormone levels only after clonidine administration. It is postulated that children with Down syndrome have both anatomical and biochemical hypothalamic derangements that may result in decreased growth hormone secretion and reduced linear growth. In addition, other mechanisms that may be in part responsible for the observed growth retardation are discussed.

Child, Preschool↗
PubMedDate not supplied

Tardive or atypical Tourette's disorder in a population with Down syndrome?

In a population of 425 individuals with Down syndrome, we observed 5 persons (1.2%) with Tourette's disorder. Because the prevalence of Tourette's disorder in the general population has been estimated to be between 0.03% and 1.6%, it is not likely that there is an increased prevalence of Tourette's disorder in Down syndrome, or that there is an interrelationship between Down syndrome and Tourette's disorder. This lack of relationship argues against an atypical Tourette's disorder. The absence of family histories of Tourette's disorder in our patients, the relatively late onset of the disorder in most of our patients, their previous treatment with neuroleptic and psychostimulant medication, and the lack of relationship between Down syndrome and Tourette's disorder in this Down syndrome population are factors that support the diagnosis of tardive Tourette's disorder.

Adolescent↗
PubMedDate not supplied

Mitral valve prolapse in persons with Down syndrome.

This study was designed to determine the prevalence of mitral valve prolapse and aortic insufficiency in home-reared, young persons with Down syndrome. Of the 36 individuals (ages 20-32 years) enrolled in this study, 20 had abnormal echocardiographic findings. Thirteen patients had mitral valve prolapse, 3 had both mitral valve prolapse and aortic insufficiency, 2 had only aortic insufficiency, and 2 had other mitral valve disorders. In 14 of the 16 patients with mitral valve prolapse, a midsystolic click was heard. Theories of the pathogenesis and possible complications of mitral valve prolapse and its relationship to exercise and sport activities are discussed.

Adult↗
PubMedDate not supplied

Major depression in a small group of adults with Down syndrome.

The clinical histories and treatment of the nine individuals with Down syndrome (DS) and major depression (MD) previously noted in a report on the psychopathology of a population of 164 adults with DS with and without health disorders from a Down Syndrome Clinic are presented (Myers & Pueschel, 1991). The clinical characteristics including DSM-III-R (1987) criteria of these 9 patients plus 13 individuals with DS and MD described in case reports in the literature are summarized. Depression is rarely verbalized and commonly appears as crying, depressed appearance, or mood lability. Vegetative symptoms of disinterest with severe withdrawal and mutism, psychomotor retardation, decreased appetite, weight loss, and insomnia are prominent. Verbal expression of preoccupations of suicide, death, self-depreciation, and guilt were infrequent and may either be not present or not reported due to mutism or moderate level of mental retardation (MR). Hallucinations were prominent. Family history of depression was infrequent. Psychological stressors were noted mostly in the study sample and not in the 13 from the literature. The pattern of vegetative symptomatology with few verbal complaints and prominent hallucinations may be related to moderate mental retardation in these groups with DS rather than specifically to DS.

Adjustment Disorders↗
PubMedDate not supplied

Skeletal anomalies of the upper cervical spine in children with Down syndrome.

This study showed that a significantly greater number of children with Down syndrome (45 to 78) have cervical spine anomalies than an age- and sex-matched group of normal children (3 of 38). Moreover, children with Down syndrome who had atlantoaxial instability had an increased frequency of cervical spine anomalies (31 of 39) as compared with an age- and sex-matched group of children with this chromosome disorder who did not have atlantoaxial instability (14 of 39).

Adolescent↗
PubMedDate not supplied

Posterior occipitoatlantal hypermobility in Down syndrome: an analysis of 199 patients.

We endeavored to determine the prevalence of occipitoatlantal hypermobility in individuals with Down syndrome, to establish objective radiographic criteria for this entity, and to correlate this with neurologic abnormality. In a retrospective analysis, upper cervical spine radiographs of 210 patients with Down syndrome were compared with those of 102 normal individuals. Radiographs were evaluated using the Powers ratio. Patients identified with radiographic evidence of posterior occipitoatlantal hypermobility were then examined clinically and compared with a matched group of patients with Down syndrome and normal Powers ratios. Of the patients with Down syndrome, 8.5% had a Powers ratio of < 0.55, which was indicative of posterior occipitoatlantal hypermobility (POAH). Furthermore, 66% of those with an abnormal Powers ratio had positive neurologic findings upon physical exam, a finding that was statistically significant when compared to a matched group of patients with Down syndrome and normal Powers ratio.

Adolescent↗