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Correlation between physical anomaly and behavioral abnormalities in down syndrome  [cached]
Bhattacharyya Ranjan,Sanyal Debasish,Roy Krishna,Bhattacharyya Sumita
Journal of Pediatric Neurosciences , 2010,
Abstract: Objective : The minor physical anomaly (MPA) is believed to reflect abnormal development of the CNS. The aim is to find incidence of MPA and its behavioral correlates in Down syndrome and to compare these findings with the other causes of intellectual disability and normal population. Materials and Methods : One-hundred and forty intellectually disabled people attending a tertiary care set-up and from various NGOs are included in the study. The age-matched group from normal population was also studied for comparison. MPA are assessed by using Modified Waldrop scale and behavioral abnormality by Diagnostic assessment scale for severely handicapped (DASH II scale). Results : The Down syndrome group had significantly more MPA than other two groups and most of the MPA is situated in the global head region. There is strong correlation (P < 0.001) between the various grouped items of Modified Waldrop scale. Depression subscale is correlated with anomalies in the hands (P < 0.001), feet and Waldrop total items (P < 0.005). Mania item of DASH II scale is related with anomalies around the eyes (P < 0.001). Self-injurious behavior and total Waldrop score is negatively correlated with global head. Conclusion : Down syndrome group has significantly more MPA and a pattern of correlation between MPA and behavioral abnormalities exists which necessitates a large-scale study.
Evaluation of congenital heart diseases and thyroid abnormalities in children with Down syndrome  [cached]
Ercan M?h??,Gayaz Ak?urin,Erdal Eren,F?rat Kardelen
Anadolu Kardiyoloji Dergisi , 2010,
Abstract: Objective: Congenital heart disease (CHD) associated with thyroid disease has been reported in Down syndrome (DS). The purpose of this work was to assess abnormalities of the thyroid in relation to the frequency and type of CHD on admission among children with DS.Methods: This retrospective study included 187 children with DS between August 1993- December 2005. Karyotype analysis, thyroid function tests and echocardiographic studies were performed in patients all children with DS. If necessary, hemodynamic study by catheterization was carried out. Thyrotropin releasing hormone (TRH) stimulation test was performed in having elevated thyroid stimulating hormone (TSH) level. Statistical analyses were performed using Chi-square, “t” test for independent samples or Mann-Whitney U test. Results: It was found that 136 (72.73%) patients with DS had CHD. The age difference at the time of admission was statistically significant for these two groups (p<0.001) in children with /without CHD. There were 12 (11.88%) patients with congenital hypothyroidism and DS, of whom 11 had CHD. There were statistically significant differences in the levels of TSH and total thyroxine (tT4) between congenital and subclinical hypothyroid and euthyroid groups (p<0.001 for TSH and p< 0.001 for tT4). But there was no significant relationship between having any kind of CHD and levels of TSH and tT4.Conclusion: Our data suggest that all patients with DS should be evaluated with careful physical and echocardiographic examination on admission. In addition, congenital or subclinical hypothyroidism should also be kept in mind in children with DS and monitored accordingly.
Adult-Onset Fluoxetine Treatment Does Not Improve Behavioral Impairments and May Have Adverse Effects on the Ts65Dn Mouse Model of Down Syndrome  [PDF]
Markus Heinen,Moritz M. Hettich,Devon P. Ryan,Susanne Schnell,Katharina Paesler,Dan Ehninger
Neural Plasticity , 2012, DOI: 10.1155/2012/467251
Abstract: Down syndrome is caused by triplication of chromosome 21 and is associated with neurocognitive phenotypes ranging from severe intellectual disability to various patterns of more selective neuropsychological deficits, including memory impairments. In the Ts65Dn mouse model of Down syndrome, excessive GABAergic neurotransmission results in local over-inhibition of hippocampal circuits, which dampens hippocampal synaptic plasticity and contributes to cognitive impairments. Treatments with several GABAA receptor antagonists result in increased plasticity and improved memory deficits in Ts65Dn mice. These GABAA receptor antagonists are, however, not suitable for clinical applications. The selective serotonin reuptake inhibitor fluoxetine, in contrast, is a widely prescribed antidepressant that can also enhance plasticity in the adult rodent brain by lowering GABAergic inhibition. For these reasons, we wondered if an adult-onset 4-week oral fluoxetine treatment restores spatial learning and memory impairments in Ts65Dn mice. Fluoxetine did not measurably improve behavioral impairments of Ts65Dn mice. On the contrary, we observed seizures and mortality in fluoxetine-treated Ts65Dn mice, raising the possibility of a drug × genotype interaction with respect to these adverse treatment outcomes. Future studies should re-address this in larger animal cohorts and determine if fluoxetine treatment is associated with adverse treatment effects in individuals with Down syndrome. 1. Introduction Down syndrome is caused by trisomy 21 and is frequently associated with cognitive impairments. Based on the partial triplication of chromosome 16, the mouse homologue of human chromosome 21, a mouse model (Ts65Dn) has been developed that shows behavioral abnormalities, including deficient hippocampus-dependent learning and memory [1, 2]. Although most studies regarding the neurobiology of Down syndrome have been focused on neurodevelopment, recent evidence suggests that pathophysiological processes in the adult brain significantly contribute to cognitive impairments in this disorder [3–8]. In Ts65Dn mice, enhanced inhibitory synaptic transmission suppresses proper induction of hippocampal synaptic plasticity, an important cellular mechanism for learning and memory formation [6]. Strikingly, using a variety of different GABAA receptor antagonists to suppress the abnormally increased level of inhibition in adult Ts65Dn mice fully restored their learning and memory impairments without affecting wild-type controls [4]. These beneficial effects were not evident, however, with only
Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia
Maria Silva, Maria do Socorro Pombo-de-Oliveira, Susana C Raimondi, Hasmik Mkrtchyan, Eliana Abdelhay, Amanda de Figueiredo, Mariana de Souza, Daniela Garcia, Eliane de Ventura, Adriana de Sousa, Thomas Liehr
Molecular Cytogenetics , 2009, DOI: 10.1186/1755-8166-2-7
Abstract: An unbalanced translocation involving chromosome 1 was identified by GTG banding in all cases. These were characterized in more detail by molecular cytogenetic approaches. Additional molecular analysis revealed in three of the four cases mutations in exon 2 of the GATA binding protein 1 (globin transcription factor 1), located in Xp11.23.Our results corroborate that abnormalities of chromosome 1 are common in DS-associated AMKL. Whether this chromosomal region contains gene(s) involved in hematopoietic malignant transformation remains to be determined.Among congenital disorders, Down Syndrome (DS) is one of the most common, affecting 1/800 – 1/1000 live births. Children with DS have an increased risk of childhood acute leukemia (AL) when compared to the general pediatric population under 4 years of age [1]. In DS the majority of leukemia diagnosed below the age of 2 years is acute megakaryoblastic leukemia (AMKL) or acute myeloid leukemia (AML) type M7, according to the French-American-British classification. This neonatal leukemia is usually indistinguishable from other AL in clinical, cytological and immunophenotypical aspects. Nearly 25% of infants that undergo remission after a transient leukemia episode develop an AL 1–3 years later. Approximately 20% of infants with this malignancy progress to a sub-type of AML-M7 or AMKL [2].Several reports have now suggested that mutations in the hematopoietic zinc-finger transcription factor gene GATA1, which is essential for proper development of erythroid cells, megakaryocytes, eosinophilis and mast cells, could be an initiating event in DS leukemogenesis [3,4]. Besides the involvement of GATA1, trisomy 21 is strongly associated with leukemogenesis. Cytogenetic analyses revealed other acquired recurrent abnormalities associated with gain of chromosome 21. Recently, Forestier and co-workers [5] analyzed 189 DS-associated AML cases (DS-AML) and confirmed a distinct entity, originating from other genetic pathways than non-DS
Anemia in Children with Down Syndrome  [PDF]
Ariel Tenenbaum,Sarah Malkiel,Isaiah D. Wexler,Floris Levy-Khademi,Shoshana Revel-Vilk,Polina Stepensky
International Journal of Pediatrics , 2011, DOI: 10.1155/2011/813541
Abstract: Background. Iron deficiency anemia impacts on cognitive development. The objective of this study was to determine the prevalence of anemia and iron deficiency in children with Down syndrome and identify risk factors for anemia. Methods. We conducted a prolective cross-sectional study of children attending a multidisciplinary Down syndrome medical center. One hundred and forty nine children with Down syndrome aged 0–20 years were enrolled in the study. Information obtained included a medical history, physical and developmental examination, nutritional assessment, and the results of blood tests. Results. Of the patients studied, 8.1% were found to have anemia. Among the 38 children who had iron studies, 50.0% had iron deficiency. In a multivariate analysis, Arab ethnicity and low weight for age were significantly associated with anemia. Gender, height, the presence of an eating disorder, and congenital heart disease were not risk factors for anemia. Conclusions. Children with Down syndrome are at risk for anemia and iron deficiency similar to the general population. Children with Down syndrome should be monitored for anemia and iron deficiency so that prompt intervention can be initiated. 1. Introduction Iron deficiency anemia (IDA) is prevalent and a major public health care issue [1, 2]. IDA has been associated with motor and cognitive developmental deficits in children and may be irreversible [3–7]. IDA may have an even greater impact on select populations who are already at risk for intellectual and developmental compromise. Down syndrome (DS) is the most common human aneuploidy with an approximate incidence of one in 800 live births. Clinical manifestations of DS include cognitive impairment, craniofacial dysmorphism, gastrointestinal tract abnormalities, congenital heart defects, endocrine abnormalities, immunologic defects, and neurologic deficits associated with early onset dementia [8]. Regarding the hematopoietic system, children with DS frequently show macrocytosis, abnormalities in platelet counts, and an increased prevalence of leukemia [9–13]. Similar to the general population, individuals with DS may be at risk for IDA and its consequent complications. There are only a few studies regarding anemia in DS patients. Until recently, those studies which have been published often focused on a select population of children with DS and may not be representative of the general DS population. For example, Awasthi et al. investigated the hematological profile of patients with DS who presented with initial manifestations of a hematological disorder to
Thyroid functions of neonates with Down syndrome  [cached]
Sarici Dilek,Akin Mustafa,Kurtoglu Selim,Gunes Tamer
The Italian Journal of Pediatrics , 2012, DOI: 10.1186/1824-7288-38-44
Abstract: Background We aimed to evaluate thyroid functions and volumes and detect abnormalities in 80 neonates with Down syndrome. Methods Data about free triiodothyronine, free thyroxine, thyroid stimulating hormone, thyroglobulin and urinary iodine levels, and ultrasonographic thyroid volume were collected. Results Abnormal thyroid function tests were detected in 53.8% of the patients (n = 50) and these were hyperthyrotropinemia, hypothyroidism, iodine deficiency and iodine overload in 32, 2, 12 and 4 patients, respectively. Thyroid volumes were assessed in 36 patients and a total of 17 abnormalities were detected (7 hypoplasia, 3 agenesis and 7 goiter). In patients with hyperthyrotropinemia mean thyroid volume was significantly greater and mean TSH was significantly higher when compared to the patients without hyperthyrotropinemia. Conclusion Neonatal screening by thyroid function tests in Down syndrome should be performed to prevent further intellectual deterioration and improve overall development. In the neonatal period, the risk of hyperthyrotropinemia should be kept in mind.
Down syndrome and coexistent autoimmune diseases
Dimitry Chistiakov
Journal of Applied Biomedicine , 2007,
Abstract: Down syndrome (DS) is often accompanied by autoimmune diseases. Among those, autoimmune thyroiddisease, type 1 diabetes and celiac disease are the most common. The major cause of enhancedvulnerability of DS patients to a variety of autoimmune diseases is impaired immune response, withmultiple abnormalities in all components of the immune system, especially in cell-mediated immunity.This could explain a significantly higher frequency of autoimmune disorders in DS compared to thegeneral population. The diagnosis of autoimmune diseases accompanying DS could be complicated bymasking effects of the underlying features of the syndrome such as failure to thrive, short stature anddelayed puberty. However, screening for immunological signs of coexistent autoimmunity such as tissuespecificantibodies and monitoring insulin secretion, glucose levels, thyroid function and other metabolicparameters should help in early diagnosis of coexistent autoimmunity in DS patiens.
Noninvasive screening tools for Down syndrome: a review  [cached]
Smith M,Visootsak J
International Journal of Women's Health , 2013,
Abstract: Meagan Smith, Jeannie Visootsak Emory University, Department of Human Genetics, Atlanta, GA, USA Abstract: Down syndrome is the leading cause of prenatal chromosome abnormalities, accounting for 53% of all reported chromosome conditions. Testing strategies, guidelines, and screening options have expanded from their conception in the 1970s, and now include such options as anatomical ultrasound, maternal serum screening, and noninvasive prenatal testing. This review summarizes all currently available noninvasive diagnostic techniques for the detection of Down syndrome. By understanding fully each technology and the possible alternatives, the physician will be able to provide their patients with all the information necessary to make an informed decision regarding their medical management. Keywords: Down syndrome, noninvasive screening, diagnostic techniques
Hospitalization of Children with Down Syndrome  [PDF]
Ariel Tenenbaum,Isaiah D. Wexler,Joav Merrick
Frontiers in Public Health , 2014, DOI: 10.3389/fpubh.2014.00022
Abstract: Introduction: Children with Down syndrome present with multiple medical problems in a higher prevalence compared with the general population, which may lead to hospitalizations.
Anemia in Children with Down Syndrome  [PDF]
Ariel Tenenbaum,Sarah Malkiel,Isaiah D. Wexler,Floris Levy-Khademi,Shoshana Revel-Vilk,Polina Stepensky
International Journal of Pediatrics , 2011, DOI: 10.1155/2011/813541
Abstract: Background. Iron deficiency anemia impacts on cognitive development. The objective of this study was to determine the prevalence of anemia and iron deficiency in children with Down syndrome and identify risk factors for anemia. Methods. We conducted a prolective cross-sectional study of children attending a multidisciplinary Down syndrome medical center. One hundred and forty nine children with Down syndrome aged 0–20 years were enrolled in the study. Information obtained included a medical history, physical and developmental examination, nutritional assessment, and the results of blood tests. Results. Of the patients studied, 8.1% were found to have anemia. Among the 38 children who had iron studies, 50.0% had iron deficiency. In a multivariate analysis, Arab ethnicity and low weight for age were significantly associated with anemia. Gender, height, the presence of an eating disorder, and congenital heart disease were not risk factors for anemia. Conclusions. Children with Down syndrome are at risk for anemia and iron deficiency similar to the general population. Children with Down syndrome should be monitored for anemia and iron deficiency so that prompt intervention can be initiated.
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