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Nature Reviews. Immunology Apr 2023The immune system in individuals with Down syndrome is characterized by steady state increases in cytokine expression, T cell activation, atypical B cell responses and...
The immune system in individuals with Down syndrome is characterized by steady state increases in cytokine expression, T cell activation, atypical B cell responses and the presence of numerous autoantibodies.
Topics: Humans; Down Syndrome; Immune System Diseases
PubMed: 36914822
DOI: 10.1038/s41577-023-00855-z -
Research in Developmental Disabilities Jul 2022Specific medical conditions are more prevalent in Down syndrome (DS) compared to the general population. Medical heterogeneity has also been hypothesized to contribute...
BACKGROUND
Specific medical conditions are more prevalent in Down syndrome (DS) compared to the general population. Medical heterogeneity has also been hypothesized to contribute to variability in outcomes in DS.
AIMS
This project aimed to examine the association between medical conditions (i.e., gastrointestinal issues, hearing loss, vision problems, and congenital heart defects) and cognition, language, and behavior in children and adolescents with DS.
METHODS AND PROCEDURES
Participants were 73 children and adolescents with DS, ages 6-17 years (M = 12.67, SD = 3.16). Caregivers reported on participants' medical conditions, social behaviors, maladaptive behaviors, and executive function. Child cognitive abilities were also assessed.
OUTCOMES AND RESULTS
Of the 73 participants, 34.2% had gastrointestinal issues, 12.3% had uncorrected hearing loss, 26.0% had uncorrected vision problems, and 31.5% had congenital heart defects. Participants with gastrointestinal issues had significantly more challenges with social behaviors, maladaptive behaviors, and executive function compared to those without gastrointestinal issues.
CONCLUSIONS AND IMPLICATIONS
The associations identified between gastrointestinal issues and caregiver-reported behavioral characteristics in youth with DS contributes to our understanding of the interrelation between co-occurring medical conditions and child outcomes and has implications for approaches to care for individuals with DS.
Topics: Adolescent; Child; Cognition; Down Syndrome; Executive Function; Heart Defects, Congenital; Humans; Language
PubMed: 35468571
DOI: 10.1016/j.ridd.2022.104236 -
Aging Cell Jun 2019Down syndrome (DS) has been proposed by George Martin as a segmental progeroid syndrome since 1978. In fact, DS persons suffer from several age-associated disorders much... (Review)
Review
Down syndrome (DS) has been proposed by George Martin as a segmental progeroid syndrome since 1978. In fact, DS persons suffer from several age-associated disorders much earlier than euploid persons. Furthermore, a series of recent studies have found that DS persons display elevated levels of age biomarkers, thus supporting the notion that DS is a progeroid trait. Nowadays, due to the progressive advancements in social inclusion processes and medical assistance, DS persons live much longer than in the past; therefore, the early-onset health problems of these persons are becoming an urgent and largely unmet social and medical burden. In particular, the most important ailment of DS persons is the accelerated cognitive decline that starts when they reach about 40 years of age. This decline can be at least in part counteracted by multi-systemic approaches including early-onset cognitive training, physical activity, and psychosocial assistance. However, no pharmacological treatment is approved to counteract this decline. According to the most advanced conceptualization of Geroscience, tackling the molecular mechanisms underpinning the aging process should be a smart/feasible strategy to combat and/or delay the great majority of age-related diseases, including cognitive decline. We think that a debate is needed urgently on if (and how) this strategy could be integrated in protocols to face DS-associated dementia and overall unhealthy aging. In particular we propose that, on the basis of data obtained in different clinical settings, metformin is a promising candidate that could be exploited to counteract cognitive decline in DS.
Topics: Animals; Cognitive Aging; Down Syndrome; Humans
PubMed: 30768754
DOI: 10.1111/acel.12903 -
Journal of Intellectual Disability... Feb 2010Characterising how socio-cognitive abilities develop has been crucial to understanding the wider development of typically developing children. It is equally central to... (Review)
Review
Characterising how socio-cognitive abilities develop has been crucial to understanding the wider development of typically developing children. It is equally central to understanding developmental pathways in children with intellectual disabilities such as Down's syndrome. While the process of acquisition of socio-cognitive abilities in typical development and in autism has received considerable attention, socio-cognitive development in Down's syndrome has received far less scrutiny. Initial work in the 1970s and 1980s provided important insights into the emergence of socio-cognitive abilities in the children's early years, and recently there has been a marked revival of interest in this area, with research focusing both on a broader range of abilities and on a wider age range. This annotation reviews some of these more recent findings, identifies outstanding gaps in current understanding, and stresses the importance of the development of theory in advancing research and knowledge in this field. Barriers to theory building are discussed and the potential utility of adopting a transactional approach to theory building illustrated with reference to a model of early socio-cognitive development in Down's syndrome. The need for a more extensive model of social cognition is emphasised, as is the need for larger-scale, finer-grained, longitudinal work which recognises the within-individual and within-group variability which characterises this population. The value of drawing on new technologies and of adapting innovative research paradigms from other areas of typical and atypical child psychology is also highlighted.
Topics: Age Factors; Awareness; Child; Child, Preschool; Communication; Down Syndrome; Humans; Infant; Infant, Newborn; Interpersonal Relations; Mother-Child Relations; Parenting; Research; Social Adjustment; Social Behavior; Social Behavior Disorders; Socialization
PubMed: 19874447
DOI: 10.1111/j.1365-2788.2009.01215.x -
American Family Physician Jan 1999Down syndrome is caused by triplicate material of chromosome 21. The syndrome has a variable physical expression, but congenital cardiac defects, transient... (Review)
Review
Down syndrome is caused by triplicate material of chromosome 21. The syndrome has a variable physical expression, but congenital cardiac defects, transient myelodysplasia of the newborn and duodenal atresia are highly specific for this chromosomal disorder. Routine health maintenance is important because infants and children with Down syndrome are more likely to have otitis media, thyroid disease, congenital cataracts, leukemoid reactions, dental problems and feeding difficulties. Since infants with this syndrome are prone to respiratory infections, immunization recommendations should be followed closely. Motor, language, social and adaptive skills should be assessed at each office visit. The psychosocial aspects of care should be discussed with the parents of an infant with Down syndrome. If necessary, the parents should be referred to family support and specialty resources. Institutionalization of infants with Down syndrome is now unlikely. With newer surgical techniques, early therapy to minimize developmental delay and proper health supervision, the functional prognosis for infants with Down syndrome is considerably improved.
Topics: Child, Preschool; Diagnosis, Differential; Down Syndrome; Humans; Infant; Parents; Patient Education as Topic; Primary Health Care; Prognosis; Severity of Illness Index; Social Support; Teaching Materials
PubMed: 9930130
DOI: No ID Found -
Progress in Brain Research 2020The presence of an extra copy of human chromosome 21 (Hsa21) leads to a constellation of phenotypic manifestations in Down syndrome (DS), including prominent effects on... (Review)
Review
The presence of an extra copy of human chromosome 21 (Hsa21) leads to a constellation of phenotypic manifestations in Down syndrome (DS), including prominent effects on the brain and immune system. Intensive efforts to unravel the molecular mechanisms underlying these phenotypes may help developing effective therapies, both in DS and in the general population. Here we review recent progress in genetic and epigenetic analysis of trisomy 21 (Ts21). New mouse models of DS based on syntenic conservation of segments of the mouse and human chromosomes are starting to clarify the contributions of chromosomal subregions and orthologous genes to specific phenotypes in DS. The expression of genes on Hsa21 is regulated by epigenetic mechanisms, and with recent findings of highly recurrent gene-specific changes in DNA methylation patterns in brain and immune system cells with Ts21, the epigenomics of DS has become an active research area. Here we highlight the value of combining human studies with mouse models for defining DS critical genes and understanding the trans-acting effects of a simple chromosomal aneuploidy on genome-wide epigenetic patterning. These genetic and epigenetic studies are starting to uncover fundamental biological mechanisms, leading to insights that may soon become therapeutically relevant.
Topics: Aging, Premature; Animals; Cerebral Cortex; Disease Models, Animal; Down Syndrome; Epigenesis, Genetic; Humans; Mice
PubMed: 32057305
DOI: 10.1016/bs.pbr.2019.09.002 -
Neurological Sciences : Official... May 2021The aim of the current study was to determine whether COVID-19 is associated with a different presenting clinical picture or a more severe course of illness in people...
PURPOSE
The aim of the current study was to determine whether COVID-19 is associated with a different presenting clinical picture or a more severe course of illness in people with Down syndrome (DS).
METHODS
All consecutive patients who were admitted at healthcare facilities anywhere in Fars province (located in the south of Iran with a population of 4,851,000 people) from 19 February 2020 to 20 November 2020 were included. For every patient with DS, three age- and sex-matched patients with COVID-19 and without any underlying medical conditions were selected as controls.
RESULTS
During the study period, 37,968 patients were hospitalized with a diagnosis of COVID-19. Eighteen patients had DS. Patients with DS were significantly more likely to be intubated [7 patients (39%)] compared with those without DS [3 patients (6%)]; p = 0.002. Patients with DS significantly more often died of COVID-19 compared with the controls [8 (44.4%) vs. 1 (1.9%); odds ratio: 24.37; 95% confidence interval 2.39-247.94; p = 0.007].
CONCLUSION
Patients with DS are among the high-risk populations with respect to severe COVID-19 and should receive the vaccine as soon as possible. Furthermore, they should receive more intensive care if they get hospitalized with the illness.
Topics: COVID-19; Down Syndrome; Hospitalization; Humans; Iran; SARS-CoV-2
PubMed: 33523318
DOI: 10.1007/s10072-021-05091-8 -
The Lancet. Neurology Jan 2022
Topics: Down Syndrome; Humans
PubMed: 34942129
DOI: 10.1016/S1474-4422(21)00411-7 -
Neurological Sciences : Official... Sep 2022
Topics: COVID-19; Child; Down Syndrome; Humans; SARS-CoV-2
PubMed: 35767087
DOI: 10.1007/s10072-022-06238-x -
Medicine Dec 2020The present study aimed to analyze the positive rate of Down syndrome in second-trimester pregnant women in 1 lunar cycle and calculate variation coefficients of daily...
The present study aimed to analyze the positive rate of Down syndrome in second-trimester pregnant women in 1 lunar cycle and calculate variation coefficients of daily person numbers and daily positive rates in this population so as to explore the relationship of the lunar cycle with Down syndrome screening and its effects.Data and laboratory results of 51,450 second-trimester pregnant women who underwent Down syndrome screening between May 2013 and June 2017 of the Chinese lunar calendar were collected. The patients were allocated into groups according to the time period of the lunar cycle based on the start date of their last menstruation. In the Chinese lunar calendar, 1 lunar cycle is divided into eight time periods. The positive rate of Down syndrome in pregnant women with the same start date of last menstruation and changes in their variation coefficients of daily person numbers and daily positive rates were analyzed.The findings displayed the lowest positive rate of Down syndrome in the group of pregnant women who had the start date of last menstruation within the full-moon time period. The greatest variation coefficients of daily person numbers and daily positive rates were also found in the same group.The study showed that the moon indeed affected pregnant women, and the effect reached the peak by the full moon. The effect interfered with the body homeostasis of pregnant women to a certain degree. Therefore, the relationship of the lunar cycle with Down syndrome screening reflected the interaction of the moon with the homeostasis of pregnant women.
Topics: Adult; China; Correlation of Data; Down Syndrome; Environment; Female; Homeostasis; Humans; Menstruation; Moon; Pregnancy; Pregnancy Trimester, Second; Prenatal Diagnosis
PubMed: 33350765
DOI: 10.1097/MD.0000000000023792