Olfactory identification deficits in Down's syndrome and idiopathic mental retardation

We investigated olfactory identification in children and adults with Down's syndrome (DS) and idiopathic mental retardation (IMR) and in age-matched normal controls (NC). Identification was assessed with a four alternative-forced-choice task modified from the University of Pennsylvania Smell Identification Test (M-UPSIT) and a yes/no task yielding measures of discrimination and response bias for the same stimulus material. Control tactile identification tasks were also administered. Results were that odor identification performance on both tasks was specifically impaired in DS compared to IMR and NC. Accuracy of identification on the M-UPSIT correlated inversely with age in DS only. When uncertain, DS and IMR subjects guessed "yes" more often than "no" on the Yes/No task (liberal decision bias) and guessed the last response alternative on the M-UPSIT (recent position bias), whereas the normal subjects had neutral decision bias on the Yes/No task and matched the objective position presentation probabilities on the M-UPSIT. Decision bias correlated with accuracy of identification in both tasks for the DS subjects only.     

Hyperthyroidism in a girl with Down's syndrome

We report an adolescent girl with Down's syndrome, who presented with hyperthyroidism. Autoimmune thyroid disorders can occur in children with Down's syndrome, hypothyroidism developing more frequently. Hyperthyroidism can also be associated with Down's syndrome, and should not be missed.     

Folliculitis in Down's syndrome

Twenty-two male and 20 female adults with Down's syndrome were examined. Ten of the men and two of the women had a follicular rash consistent with Malassezia folliculitis. Oral itraconazole treatment produced a significant improvement in the rash, accompanied by a decrease in the skin Malassezia count. Clinical relapse occurred when therapy was discontinued, and was accompanied by return of the Malassezia yeasts.     

Psychosocial adaptation in adolescents and young adults with Marfan syndrome: an exploratory study

Endothelium-derived nitric oxide formed by endothelial constitutive nitric oxide synthase (ecNOS) mediates endothelium-dependent vasodilation and antithrombotic action. We analyzed the distribution of a polymorphism of ecNOS (27-bp repeat in intron 4) in 127 ischemic stroke patients (18 with atherothrombotic, 58 with lacunar, and 51 with silent lacunar stroke) and 91 control subjects. When we assigned the four repeats as allele a, and five repeats as allele b, there was no significant difference between the genotype distribution and allele frequencies in the stroke group and in the control group (0.862 versus 0.868 for the b allele frequency). Moreover, there was also no significant difference in the genotype distribution or allele frequencies among the three stroke subgroups (b allele frequency: 0.889 for atherothrombotic stroke; 0.862 for lacunar stroke; 0.853 for silent lacunar stroke). These findings suggest that there is no overt association between this ecNOS gene polymorphism and ischemic stroke. We found no evidence that this polymorphism may be a genetic factor for the onset of cerebrovascular disease in this Japanese population.     

Articulation in children with Down's syndrome. A pilot study

The articulation of children with Down's syndrome (trisomie 21, T21) in comparison to a group of age-matched normal probands was investigated in a clinical study, using digital sonagraphics (recording of frequency, amplitude and time of the speech signal), with peripheral factors taken into consideration. The T21-Group (n = 10) revealed a higher variability as well as a longer articulation of the test word "Tasse" than the Control Group (n = 10). There was no clear-cut dependence of speed and quality of articulation on all of the peripheral factors evaluated (Angle Class, overbite, oral motor ability, hearing disorder, logopedics, Castillo-Morales stimulating plate treatment). The results of our investigation show differing patterns of articulation in T21 children compared with normal probands, using a reproducible method. A clear-cut influence of various influencing peripheral factors as reported in the literature could not be found for the T21-Group. Thus, central factors seem to have a great impact on articulation in T21 patients.     

Glucose effects on cognition in adults with Down's syndrome.

Glucose enhances memory in a variety of individuals, including people with Alzheimer's disease. By 35 years of age, adults with Down's syndrome (DS) develop the characteristic plaques and tangles found in Alzheimer's disease, despite findings indicating that not all older DS individuals meet criteria for dementia. To examine the possibility that glucose enhances memory in adults with DS (mean age?=?35 years, range?=?19–55 years), adults with DS were given a battery of tests specifically designed for individuals with DS in glucose and control conditions. No participant met criteria for dementia, regardless of age. Glucose enhanced performance on tests requiring both long-term memory and auditory processing. In addition, increased age was associated with poorer performance on the majority of tests in the control condition, indicating that cognitive decline with aging may be more prevalent in DS than previously believed. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Antenatal screening for Down's syndrome

BACKGROUND: In 1968 the first antenatal diagnosis of Down's syndrome was made and screening on the basis of selecting women of advanced maternal age for amniocentesis was gradually introduced into medical practice. In 1983 it was shown that low maternal serum alpha fetoprotein (AFP) was associated with Down's syndrome. Later, raised maternal serum human chorionic gonadotrophin (hCG), and low unconjugated oestriol (uE3) were found to be markers of Down's syndrome. In 1988 the three biochemical markers were used together with maternal age as a method of screening, and this has been widely adopted. PRINCIPLES OF ANTENATAL SCREENING FOR DOWN'S SYNDROME: Methods of screening need to be fully evaluated before being introduced into routine clinical practice. This included choosing markers for which there is sufficient scientific evidence of efficacy, quantifying performance in terms of detection and false positive rates, and establishing methods of monitoring performance. Screening needs to be provided as an integrated service, coordinating and managing the separate aspects of the screening process. SERUM MARKERS AT 15-22 WEEKS OF PREGNANCY: A large number of serum markers have been found to be associated with Down's syndrome between 15 and 22 weeks of pregnancy. The principal markers are AFP, hCG or its individual subunits (free alpha- and free beta-hCG), uE3, and inhibin A. Screening performance varies according to the choice of markers used and whether ultrasound is used to estimate gestational age (table 1). When an ultrasound scan is used to estimate gestational age the detection rate for a 5% false positive rate is estimated to be 59% using the double test (AFP and hCG), 69% using the triple test (AFP, hCG, uE3), and 76% using the quadruple test (AFP, hCG, uE3, inhibin A), all in combination with maternal age. Other factors that can usefully be taken into account in screening are maternal weight, the presence of insulin dependent diabetes mellitus, multiple pregnancy, ethnic origin, previous Down's syndrome pregnancy, and whether the test is the first one in a pregnancy or a repeat. Factors such as parity and smoking are associated with one or more of the serum markers, but the effect is too small to justify adjusting for these factors in interpreting a screening test. URINARY MARKERS AND FETAL CELLS IN MATERNAL BLOOD: Urinary beta-core hCG has been investigated in a number of studies and shown to be raised in pregnancies with Down's syndrome. This area is currently the subject of active research and the use of urine in future screening programmes may be a practical possibility. Other urinary markers, such as total oestriol and free beta-hCG may also be of value. Fetal cells can be identified in the maternal circulation and techniques such as fluorescent in situ hybridisation can be used to identify aneuploidies, including Down's syndrome and trisomy 18. This approach may, in the future, be of value in screening or diagnosis. Currently, the techniques available do not have the performance, simplicity, or economy needed to replace existing methods. DEMONSTRATION PROJECTS: Demonstration projects are valuable in determining the feasibility of screening and in refining the practical application of screening. They are of less value in determining the performance of different screening methods. Several demonstration projects have been conducted using the triple and double tests. In general, the uptake of screening was about 80%. The screen positive rates were about 5-6%. About 80% of women with positive screening results had an invasive diagnostic test, and of those found to have a pregnancy with Down's syndrome, about 90% chose to have a termination of pregnancy. ULTRASOUND MARKERS AT 15-22 WEEKS OF PREGNANCY: There are a number of ultrasound markers of Down's syndrome at 15-22 weeks, including nuchal fold thickness, cardiac abnormalities, duodenal atresia, femur length, humerus length, pyelectasis, and hyperechogenic bowel. (ABSTRA     

Olfactory cues mediate food selection by young chicks

An illness-induced aversion paradigm was used to assess the possible influence of olfactory cues on food selection by young chicks. At 2-3 days posthatching, chicks were exposed briefly to food scented with a novel odor (orange) followed by an injection of LiCl or saline. LiCl-injected chicks subsequently displayed stronger avoidance of orange-scented food than did the controls. Chicks in a second experiment were preexposed to novel-scented food, then either injected with LiCl or not injected. The LiCl chicks, but not the controls, later avoided food associated with the preexposure odor (relative to food treated with an unfamiliar odorant). Two- to three-day-old chicks are capable of associating specific food odors with negative consequences and modify their feeding behavior as a function of such experience.     

Two cases of suicide attempt by patients with Down's syndrome

This report documents cases of suicide attempts by two persons with Down's syndrome. The patients experienced dysphoric affect and feelings of hopelessness about unmet needs associated with their disability. During the course of a major depressive episode, each individual made a suicide attempt that could have been fatal. Although suicidal ideation and attempts are infrequent among patients with mental retardation, completed suicides and potentially fatal attempts have been reported. It is vitally important that mental health practitioners appreciate the seriousness of suicidal ideation among persons who have mental retardation and treat the underlying psychiatric disorder.     

Olfactory function in monozygotic twins discordant for schizophrenia

Microtubule disassembly is commonly believed to be a process of endwise tubulin dimer release. The present study demonstrates by video interference contrast microscopy that Escherichia coli lipopolysaccharide (LPS) caused microtubule disassembly in vitro by both endwise shortening and fragmentation. In contrast, the microtubules were only shortened from their ends in the presence of DNA, used as another example of a macromolecular microtubule effector. LPS-caused microtubule fragmentation was confirmed by transmission electron microscopy. Because of its ability to induce both fragmentation and endwise shortening, LPS, which is involved in sepsis pathogenesis, has to be regarded as a highly active microtubule-destabilizing agent.     

Adverse perinatal outcomes in young adolescents

BACKGROUND: Identification of psychiatric patients with severe and persisting impairments can facilitate treatment, aid in program planning, and provide data for cost-of-care projections. METHODS: In this prospective study of patient outcomes, 1,679 inpatients were classified on admission using a functional status measure developed by the authors. Consenting subjects were reassessed at discharge and at 3, 6, and 12 months postdischarge to determine what proportion of patients classified as low functioning on admission remained so at follow-up. RESULTS: Patients classified as low functioning on admission represented 23.4% of the sample; the proportion that remained low functioning at the follow-ups ranged from 56.1% to 65.2%. Compared to the high functioning group, three times more low functioning patients were rehospitalized within 12 months of discharge (9.4% vs 32%). CONCLUSIONS: Patients with increased risk of persisting disability can be identified on admission using commonly available clinical measures. Of patients with low functioning on admission, more than half will have long-term impairment.     

Interplay among behavioral systems: Illustrations from the study of attachment, affiliation, and wariness in young children with Down's syndrome.

42 Down's syndrome (DS) children, age 30–42 mo, were seen in M. D. Ainsworth and B. A. Wittig's (1969) "strange situation" to assess the interrelationships among the affiliative, attachment, and fear/wariness behavioral systems. A stranger evoked affiliative behaviors in Ss but also elicited wariness and attachment behaviors. The emergence, sequence, and intensity of these behavioral systems varied with the context and the behaviors of both stranger and mother. The finding that more than one behavioral system was activated suggests that an explanation of social responsiveness must be sufficiently broad and integrative to encompass different but interrelated behavioral systems, with their respective functions and determinants. Despite certain quantitative and qualitative differences, behavioral systems appear to be similarly organized in DS and normal children. It is argued that the behavioral organization manifested by the retarded children supports and extends E. Zigler's (see record 1969-08608-001) "developmental" position. These findings suggest that the DS group constitutes a legitimate target of research for elucidating the processes of normal and deviant development. (43 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved)