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Biomedical subjects

S M Pueschel

Publications and source records attributed to S M Pueschel.

At least 37 records · Page 2Linked to original sources
PubMed1992

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↗
PubMed1992

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↗
PubMed1991

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↗
PubMed1991

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↗
PubMed1991

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↗
PubMed1991

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↗
PubMed1991

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↗
PubMed1991

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↗
PubMed1991

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↗
PubMed1990

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↗
PubMed1990

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↗
PubMed1990

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↗
PubMed1988

Parents' perception of social and sexual functions in adolescents with Down's syndrome.

The authors investigated parental perceptions of social interactions, interest in the opposite sex, sexual functions and issues concerning sex education in young persons with Down's syndrome. The evaluation of the data revealed that more than half of the study population showed interest in the opposite sex and are attending social gatherings. Many of the youngsters had expressed a desire to get married, however, only a few had an interest in sexual relationships. Masturbation was observed in 40% of the young men and in 22% of the young women. About half of the parents feel that their children should be sterilized or should have other forms of birth control if they would be able to reproduce. Only a limited number of adolescents had sex education. More parents who have girls with Down's syndrome than those who have boys are worried that their child may be taken advantage of sexually.

Adolescent↗
PubMed1988

Studies on experimentally induced hyperphenylalaninemia.

The administration of several compounds that can increase plasma phenylalanine levels and/or inhibit phenylalanine hydroxylase in rats was studied in order to determine their usefulness in inducing a phenylketonuria-like state. The results of this investigation revealed that 4.5 microns/10 g p-chlorophenylalanine is more effective than L-phenylalanine, alpha-methylphenylalanine, trimethoprim, Bactrim and Septra, since the former compound produced both adequate hyperphenylalaninemia and marked inhibition of hepatic phenylalanine hydroxylase activity. In addition, a 24-h study provided important insights into the changing diurnal patterns of specified biochemical parameters.

Animals↗
PubMed1988

Growth charts for children with Down syndrome: 1 month to 18 years of age.

Centile charts for assessment of stature and weight reflecting expected deficient size and growth rate of home-reared children with Down syndrome are presented for two age intervals, 1 to 36 months and 2 to 18 years, based on 4650 observations on 730 children. Data were pooled and used to estimate five centiles which were smoothed using a flexible mathematical function. These data corroborate other studies of growth in children with Down syndrome demonstrating deficient growth rate throughout the growing period, but most marked in infancy and again at adolescence. Children with Down syndrome in the present sample were taller than those from institutionalized samples at all ages throughout the growing period. Children with moderate or severe congenital heart disease on average were 1.5 to 2.0 cm shorter and about 1 kg lighter than those without or with only mild disease. Mean weight and weight divided by stature squared show that children with Down syndrome have a tendency to be overweight beginning in late infancy and throughout the remainder of the growing years.

Adolescent↗