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FAM RJ D68 S33 Down syndrome: when to worry about mental health and what to do about it! D68 B78 Gross motor skills in children with Down syndrome: a guide for parents and professionals Winders, Patricia C. Brookes, D68 I47 Mr. Brookes Publishing Co. D68 S9 Teaching children with Down syndrome about their bodies, boundaries, and sexuality: a guide for parents and professionals Couwenhoven, Terri -- Bethesda, MD: Woodbine House, Close Old Browser Notification. Browser Compatibility Notification. It appears you are trying to access this site using an outdated browser. As a result, parts of the site may not function properly for you.

We recommend updating your browser to its most recent version at your earliest convenience. Adventures in the mainstream: coming of age with Down Syndrome. D68 P Bethesda, MD: Woodbine House, D68 B33 Carter, Alder R. D68 C D68 B73 BOX. Classroom language skills for children with Down Syndrome: a guide for parents and teachers.

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D68 K D68 M39 These researches attempt to cover the etiology, treatment, management, control, and prevention of DS. Both in vitro and in vivo experiments are carried out to understand the molecular mechanism of the origin of this aneuploidy. Many exciting areas are currently being investigated in relation to DS.

A number of genes have been identified, which are putative candidates for phenotypic abnormalities. Use of Down syndrome mouse model, which is segmental trisomies of homologous segment of human chromosome 21, has facilitated greatly the process of reverse genetic approach to explore the gene—protein relationship in Down syndrome. Extensive studies are carried out in areas involving psycho-somatic and neural control of functions such as learning, behavior, and foetal brain development. The research on Down syndrome has progressed and it can be assumed that people with Down syndrome will enjoy better quality of life in future.

To go deep into the problem and to understand the exact etiology of these disorders, several approaches have been taken.

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  5. Down Syndrome : Neurobehavioural Specificity.

One among them is mouse models for segmental trisomies, which are being used for better understanding of these disease conditions. The ultimate goal of all research approaches is to contribute toward the better management of lifestyle of Down syndrome individuals. Down Syndrome DS is characterized by a combination of multifaceted congenital abnormalities with various degrees of severity. The developmental basis of atrioventricular septal defect also known as an atrioventricular canal defect or endocardial cushion defect is complex.

This congenital cardiac anomaly occurs when the superior and inferior endocardial cushions fail to close completely, resulting in incomplete formation of atrial and ventricular valves and septa.. The tricuspid and mitral valves that normally separate the hearts upper and lower chambers are not formed as individual valves; instead, a single large valve is formed which does not close tightly. A large hole in the centre of the heart exists where the wall between the upper chambers join the wall between the lower chambers, allowing the blood to flow between all the chambers of the heart..

This is called as a complete AVSD.


In case of partial AVSD, there is usually a hole in the wall between the atria or a hole in the wall between the ventricles near the middle of the heart, but there are usually two valves between the atria and ventricles and not a common valve as seen in complete AVSD. In partial AVSD, usually the mitral valve does not close completely and allows the blood to leak backward. Therefore, many researches focused on chromosome 21 Ch21 genes, based on the hypothesis that overexpression of these genes may play a role in the etiology of AVSD in DS.

Many studies based on the premise that myriad of genes are involved in cardiogenesis, and perturbation in any of this gene by mutation can cause CHD, therefore, highlighting the role of non-chromosome 21 gene mutation to play a key role in the etiology of AVSD in DS.

Furthermore, there is a growing body of evidence, highlighting the role of epigenetic in the development of AVSD in DS [ 12 ]. There are multiple risk alleles that play an important role in the pathogenesis of congenital heart disease CHD in DS. Alone trisomy 21 background is not enough to reach the threshold needed for the development of CHD. There exists a multifactorial model where genetic and epigenetic variants, unknown environmental factors, and stochastic events are required in addition to trisomy 21 background to cross the threshold for developing CHD in DS.

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Imaging techniques have confirmed AD-like pathogenic signs in the brain of most DS patients after 40 years of age [ 13 , 14 ]. Frequent birth of babies with DS is evident in families with AD patients. Moreover, greater number of AD patients are counted among the relatives of DS.

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Neurons progressively and irreversibly die chiefly due to deposition of amyloid beta protein and eventually perturb neurosynaptic circuits in the brain [ 15 ]. The amyloid hypothesis states that APP amyloid precursor protein gene, located on chromosome 21, encodes for amyloid precursor protein which is proteolyzed by enzymatic cascade and eventually produce amyloid beta protein that in turn oligomerizes and forms beta-plaque [ 16 ].

Apolipoprotein E APOE is one of the key genes involved in the manifestation in sporadic AD cases; epsilon 4 allele of this gene is reported to be associated with deterioration in cognitive ability in DS patients [ 19 ]. Scientists have pointed out that chromosomal segregation error may be the possible underlying molecular link between these two disorders [ 20 , 21 ].

Abnormality in cell cycle regulation due to mutations in different genes involved in both sporadic and familial AD cases is also apparent [ 20 , 22 , 23 ]. According to this theory, AD patients bear mosaic aneuploid cells in central and peripheral nervous system which are susceptible to apoptosis [ 20 ]. Besides neurons and buccal cells, lymphocytes are also found to be trisomic for chromosome 21 [ 23 — 27 ].

Again, inflammatory responses induced by overexpression of IL-1 in trisomic microglia increase amyloid beta production [ 28 ]. Researches revealed that women giving birth to Down syndrome DS babies at younger age are prone to have AD with aging [ 29 ]. Trisomy 21 aneuploidy and chromosomal instability are evident in AD patients with mutation in PSEN-1 gene [ 20 , 31 ]. Association of polymorphism of PSEN-1 gene rs is also established in young mother, giving birth to DS babies due to nondisjunction error in second meiotic division of oocyte [ 32 ].

It is postulated that accumulation of mosaic trisomy 21 cells in both somatic and germline tissue make those women prone to AD in their later life and also responsible for giving birth to DS child. Mitochondrial dysfunction is associated with AD pathology [ 33 ].

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Diminished cytochrome oxidase activity reflecting improper functioning of mitochondria in AD patients is revealed by biochemical, histochemical, and immune-histochemical analysis [ 35 ]. Showing similarity with AD cases, dysregulation in mitochondria is evident in Down syndrome etiology [ 36 ]. Individuals with DS also exhibit reduced activity of several mitochondrial enzymes, including cytochrome oxidase [ 37 ]. Thus oxidative stress due to mitochondrial dysfunction is typical in both AD and DS.

Rondal, University of Liege, Belgium Prof. Rondal has studied the education of mentally retarded people for over 40 years. He has won multiple awards for his outstanding scientific research at international conferences, and taught at several universities in Europe and North America. He co-founded the European Down Syndrome Association and was president from to Perera has attained worldwide recognition for his conferences, research and publications. A guest lecturer at several European and American universities, he has dedicated himself to isolating, studying and describing specific aspects of Down syndrome.

He has also been a member of the Scientific Committee for the last four world congresses and has organised six international symposiums on the different aspects of Down syndrome in Majorca. Rating details. Book ratings by Goodreads. Goodreads is the world's largest site for readers with over 50 million reviews. We're featuring millions of their reader ratings on our book pages to help you find your new favourite book. Close X.