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Biomedical subjects

S M Pueschel

Publications and source records attributed to S M Pueschel.

At least 19 recordsLinked to original sources

Head circumference of children with Down syndrome (0-36 months)

This study provides statistically appropriate head circumference reference curves for males and females with Down syndrome (DS) from birth to 36 months of age. A total of 239 males and 182 females from five study populations, yielding a combination of cross-sectional and longitudinal data, were used for the analysis. The method of least squares was used to test the fit of the growth model y = a+bx+c[log(x + 1)], where x is age in months. These standardized curves should provide information of value in the medical, physical, and developmental management of children with DS.

Biometry

Myoclonic dystonia.

Myoclonic dystonia is a rare disorder that occurs in an hereditary and a sporadic form. The autosomal-dominantly inherited form is responsive to alcohol but not to other drugs. The sporadic form has been relatively resistant to drug treatment. We report a young man with myoclonic dystonia who displayed only little response to alcohol but improved significantly with a combination of sodium valproate for myoclonus and trihexiphenidyl hydrochloride for dystonia. His rehabilitation, however, was confounded by public authorities who thought the patient's appearance was indicative of drug use.

Adult

Central nervous system and renal investigations in patients with Lowe syndrome.

We describe three patients with Lowe (oculocerebrorenal) syndrome, emphasizing primarily the central nervous system and renal pathology. Using magnetic resonance imaging, we noted diffuse high T2 signals periventricularly, indicating significant white matter destruction, which may be responsible in part for the mental retardation, seizure disorder, hypotonia, and areflexia observed in the patients. In contrast to previously published reports, there was minimal renal tubular dysfunction; however, proteinuria was significantly increased in all patients. We believe that the observed proteinuria is primarily the result of glomerular pathology rather than renal tubular dysfunction and may represent a net loss of negative charges within the glomerular filter. This loss of charge may be linked to the increased excretion of glycosaminoglycans in the urine.

Adolescent

Computerized tomography in persons with Down syndrome and atlantoaxial instability.

Atlantoaxial instability has been reported to occur in 9-31% of persons with Down syndrome. The authors studied a subsample of patients with this chromosomal disorder who had both routine roentgenograms and computerized tomographic examinations. Computerized tomography revealed numerous skeletal anomalies of the C1-C2 region as well as spinal cord compression that were not visualized on plain roentgenograms. In addition, an apparent discrepancy of the atlanto-dens interval measurements between the two procedures was noted. The measurements of the plain roentgenograms were significantly greater than those obtained by computerized tomography, which is due to the magnification factor in plain roentgenograms.

Atlanto-Axial Joint

Lipids and lipoproteins in persons with Down's syndrome.

This study was designed to investigate whether the observed decreased prevalence of coronary artery disease in individuals with Down's syndrome may be explained by their serum lipid and lipoprotein profiles. Twenty-seven persons with Down's syndrome and 23 non-affected control individuals were enrolled in this study. Their fasting venous blood was analysed for total cholesterol, triglyceride, LDH cholesterol, HDL cholesterol, apo B and apo AI. The results revealed no significant differences between the study and control group with regard to total cholesterol, LDL cholesterol, apo B and the apo B:apo AI ratio. However, triglyceride levels were significantly increased, and serum HDL cholesterol, apo AI and HDL cholesterol:total cholesterol ratio were significantly decreased in patients with Down's syndrome when compared with the control group. The latter observations are all associated with an increased risk for coronary artery disease. Therefore, it is concluded that the decreased prevalence of coronary artery disease in individuals with Down's syndrome cannot be explained by the lipid and lipoprotein levels observed in this study population.

Adolescent

Menstrual cycles and basal body temperature curves in women with Down syndrome.

Menstrual histories were obtained from 51 females with Down syndrome between the ages of 10-27 years. The average age at onset of menstruation of girls in our study was 12 years, 6 months. Seventy-six percent of them had regular menstrual cycles with an average length of menstrual flow of 4 days, and most menstrual cycles lasted 25-30 days. Eight of the women with regular menstrual cycles provided 26 basal body temperature charts. When basal body temperatures were graphed using the smoothed-curve technique, 88.5% had biphasic curves indicative of an ovulatory pattern.

Adolescent

A longitudinal study of atlanto-dens relationships in asymptomatic individuals with Down syndrome.

This study was designed to investigate the natural history of atlantoaxial instability in individuals with Down syndrome and to determine whether significant changes in C1-C2 relationship are taking place over time. Although more than 400 patients with Down syndrome who are presently followed at the Child Development Center had cervical spine radiographic examinations in the past, only 141 patients who had serial radiological examinations and whose radiographs were available for reevaluation participated in this study. The results of our investigations revealed that there were only minor changes (1 to 1.5 mm) of atlanto-dens interval measurements over time in 130 (92%) patients with Down syndrome. Eleven patients (8%) had changes of atlanto-dens interval measurements between 2 and 4 mm over time; however, none of these patients had any clinical symptoms. The analyses of data obtained from several subgroups (males and females, various age groups, and patients with and without atlantoaxial instability) did not show any significant changes of atlanto-dens interval measurements of successively obtained radiographs. Our recommendations for and rationale of routine screening for atlantoaxial instability and follow-up examinations are discussed in detail.

Adolescent

Seizure disorders in Down syndrome.

The prevalence, onset, and type of seizure disorders, as well as seizure control, were studied in a large cohort of 405 individuals with Down syndrome (age range, 6 months to 45 years). The evaluation of a questionnaire completed by the subjects' parents and of the patients' medical records indicated that 33 (8.1%) of 405 persons with Down syndrome had seizure disorder. With regard to the onset of seizures, a bimodal distribution was noted: 40% of patients began having seizures before the age of 1 year, and another 40% started with seizure activity in the third decade of life. In the younger age group, primarily infantile spasms and tonic-clonic seizures with myoclonus were observed, and the older patients often had partial simplex or partial complex seizures as well as tonic-clonic seizures.

Adolescent

The prevalence of hepatitis B surface antigen and antibody in home-reared individuals with Down syndrome.

We examined 180 noninstitutionalized persons with Down syndrome for the presence of both hepatitis B surface antigens and antibodies to hepatitis B surface antigen. Two of the 180 subjects with Down syndrome had a positive test. One patient was hepatitis B surface antigen positive and the other was found to have antibodies to hepatitis B surface antigen. Also, 2 of the 155 individuals in the comparison group tested positive for hepatitis B surface antigen. Thus, we did not observe an increased prevalence of hepatitis B surface antigen or antibody in the study group and there was no significant difference between the Down syndrome and comparison groups. This is in contrast to many studies that originated in residential facilities where an increased number of persons with Down syndrome were found to have hepatitis B surface antigenemia. The related public health concerns are discussed.

Adolescent

Thyroid function in Down syndrome.

The thyroid function of 181 patients with Down syndrome was investigated. When compared with a control group of 163 children we found T4 and FT4 levels to be significantly lower and T3 and TSH levels to be significantly higher in the Down syndrome population. Of the 181 patients with Down syndrome, 29 (16%) showed evidence of either uncompensated or compensated hypothyroidism: 11 (6%) had both low T4 and high TSH levels, 14 (8%) had only high TSH values, and 4 (2%) had only low T4 values. One of the patients with Down syndrome had a significantly elevated T4 level. Studying different age groups, we observed a decline of the mean T4, FT4, T3, FT3, and TBG values with advancing age. T4, T3, and TSH blood levels obtained in 1988 were slightly but not significantly lower when compared with values from 1985. Because thyroid dysfunctions in patients with Down syndrome are more common than in the general population, periodic thyroid hormone function tests should be performed in persons with Down syndrome in particular as they advance in age. Thus, individuals with significantly abnormal results can be identified early before clinical symptoms become manifest. If patients with Down syndrome are found to have a thyroid hormone disorder, appropriate treatment should be forthcoming, which in turn will enhance their quality of life.

Adolescent

Psychiatric disorders in persons with Down syndrome.

This study was designed to provide information on the prevalence and nature of psychiatric disorders in 497 individuals with Down syndrome. There were 261 patients under 20 years of age and 164 patients 20 years and older, with both groups followed as outpatients, and 72 residents from a state school. The overall frequency of psychiatric disorders in our study population was 22.1%. Patients under 20 years of age often displayed disruptive behaviors, anxiety disorders, and repetitive behaviors. Individuals with Down syndrome 20 years and older who were followed as outpatients more often exhibited major depressive disorders and state school residents were found to have an increased prevalence of dementia.

Adolescent

Behavioural observations in children with Down's syndrome.

The behavioural characteristics of 40 children with Down's syndrome were studied using the Achenbach Child Behavior Checklist which was completed by both the children's parents and teachers. Statistically significant differences were observed between study and control groups on externalizing and total scores on responses obtained from both parents and teachers, but not on internalizing scores. Further analysis of the data on a subgroup of 28 children between the ages of 6 and 11 years revealed a 'hyperactive' profile pattern for both boys (n = 16) and girls (n = 12). This was primarily due to heavily weighted positive responses to such statements as 'acts too young', 'can't concentrate', 'impulsive', and 'speech problems'. About one half of the boys sometimes exhibited hyperactive behaviours. In addition, scores of children with Down's syndrome were significantly different from control children on the following items: 'trouble sleeping', 'demands a lot of attention', 'clings to adults', 'stubborn', 'prefers playing with younger children', and 'is disobedient at school and home'. In general, however, item analysis revealed that most behaviours of children with Down's syndrome as recorded on the Achenbach Child Behavior Checklist compare well with those of children in the control group.

Adolescent

Macrocytosis in Down syndrome.

The mean corpuscular volume of erythrocytes in persons with Down syndrome is larger than normal in the absence of anemia. The mean mean corpuscular volume among our 61 subjects with trisomy 21 was 99.08 fl (range = 90 to 107). Red blood cell survival half-time was substantially shorter than normal in many of these patients. These findings suggest that erythrocytes have a younger mean age in persons with Down syndrome. The increased red blood cell turnover in this population may indicate an accelerated aging process of red blood cells.

Adolescent

Ethical considerations relating to prenatal diagnosis of fetuses with Down syndrome.

Advances in prenatal diagnoses of genetic and chromosome disorders have brought about numerous legal and ethical concerns. There are many proponents of prenatal diagnosis and selective abortion of affected fetuses who indicate that such procedures benefit society and the family as well as constitute "good" preventive medicine. Arguments against aborting affected fetuses have been proposed by people who look upon human life, including fetal life, as precious and valuable. They feel that physical and intellectual impairments are not valid reasons to recommend pregnancy termination. Prospective parents of affected fetuses with a chromosome disorder such as Down syndrome must be provided with all pertinent information, appropriate counseling, and support.

Abortion, Eugenic

Clinical aspects of Down syndrome from infancy to adulthood.

In past decades, most individuals with Down syndrome were usually not afforded adequate medical care. Many children with Down syndrome were institutionalized and they were often deprived of all but the most elementary medical services. Fortunately, there have been major improvements in the health care provision during the past 20 years. Professionals who are providing services to persons with Down syndrome need to be aware of those clinical conditions that are more often observed in this population. Certain congenital anomalies (congenital cataracts, anomalies of the gastrointestinal tract, and congenital heart disease) often require immediate attention, as some of them may be life threatening. During the subsequent childhood years a number of clinical conditions and disorders such as infectious diseases, increased nutritional intake, periodontitis, seizure disorders, sleep apnea, visual impairment, audiologic deficits, thyroid dysfunction, and skeletal problems usually occur at a higher prevalence. During adolescence specific aspects of maturation and certain health issues (skin infections, thyroid disorders, increased weight gain, and others) as well as mental health concerns need to be taken into consideration. Similar concerns may also be observed during adulthood which in addition is often marked by accelerated aging and the threat of Alzheimer disease in some persons with Down syndrome. Special attention needs to be paid to these disorders and conditions during the lifetime of a person with Down syndrome. Appropriate medical care should be provided to and no form of treatment should be withheld from a person with Down syndrome that would be given unhesitatingly to an individual without this chromosome disorder.

Adolescent

Vitamin A gastrointestinal absorption in persons with Down's syndrome.

The total daily vitamin A intake, physical signs associated with vitamin A deficiency, and the response to a vitamin A challenge were studied in 33 patients with Down's syndrome and in 14 intellectually normal persons (comparison group). The evaluation of detailed dietary histories revealed that the study subjects' mean daily vitamin A intake was similar to the recommended daily allowance for adults and that there was no significant difference of the mean daily vitamin A intake between study and comparison groups (5029 IU and 5706 IU, respectively). Subjects with Down's syndrome had more symptoms usually seen in patients with hypovitaminosis A than the persons in the comparison group. The baseline serum vitamin A levels in the Down's syndrome and comparison groups were within the normal range (106.0 micrograms/dl and 136.5 micrograms/dl, respectively). The vitamin A absorption curve of persons with Down's syndrome paralleled that of normal individuals and no significant difference of vitamin A levels between study and comparison groups was observed except for the 6-h values. Also, the absorption differential (delta = 3-h value + 6-h value/2-O-h value) did not show a significant difference between the two groups. Thus, these investigations do not support previous reports of significantly decreased vitamin A absorption in individuals with Down's syndrome.

Adolescent

Identification of haptoglobin alpha-2FF variants in mid-trimester maternal serum as potential markers for Down syndrome.

Exploratory protein analysis in mid-trimester maternal sera by 2-dimensional electrophoresis and image analysis was performed to determine the differences between mothers carrying fetuses with Down syndrome (DS) and control mothers. Nine haptoglobin alpha-1 and alpha-2 (Hp1 and Hp2) variants were detected. Three apparent isoforms of the Hp2FF protein having the same relative charge but different Mr's were detected, with the two smaller variants--Hp2FF (-0.7k) and Hp2FF (-1.3k)--believed to be first reported here. Ninety-two percent of the cases (n = 83) had the Hp2FF (-0.7k) protein, and 61% had Hp2FF (-1.3k). The geometric mean concentration of Hp2FF (Mr = 18.0 kd) was found to be significantly increased (P less than 0.01) in mid-trimester sera from cases (n = 27) compared to controls (n = 56). When the concentrations of the three Hp2FF isoforms were added, the cases had larger sums on average than controls (P less than 0.01).

Age Factors