Trisomy 21 Ebook

Teaching Down Syndrome

Although Home is Where the Smart Is is packed with information in its 104 pages, it is not an exhaustive work. It's a consideration of the basics of teaching your child with Down syndrome, starting from birth through the foundational elementary years. What's inside: Why Down syndrome is Not mental retardation .page 14 How you really can reat Down syndrome. . page 17 How you can save frustration and diapers with an old method of potty training . pg 49 How you can keep that tongue from sticking out . page 38, 69 The fastest way to teach your child to read . page 60 Developmental milestones, word lists, websites and resources . page 90 And, if you must be involved with the public school system, basic guidelines for Individual Educational Plans (Ieps) and 15 snippy questions to ask educators.

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Author: Helen Middlebrooke

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Down Syndrome

Down syndrome, previously called mongolism, is a relatively common condition resulting from the presence of an extra chromosome, number 21, in the cells of the body In each human cell, 23 chromosome pairs contain basic genetic material that organizes the body's development and physiological functioning. Each pair has a distinctive size and conformation and can be readily identified on examination. Chromosome pair number 21 is one of the smaller chromosomes. In Down syndrome there are usually three (trisomy) rather than two number 21 chromosomes (trisomy 21 -95-98 percent of cases). In some cases, the extra number 21 chromosome is attached to chromosome 13, 14, or 15 (translocation Down syndrome - about 2 percent of cases). In others, the extra chromosome is present in less than 90 percent of cells (mosaic Down syndrome - 2-4 percent of cases). Down syndrome is the most frequent chromosome abnormality in live-born humans and is also among the most frequently identified chromosomal...

Hepatitis B Virus Hbv History

Although viral hepatitis is a major public health problem, the identification of its viral association(s) and of HBV as one of the infectious agents of the disease was long in coming. Prior to its ultimate discovery, epide-miological differences among the diseases had suggested the possible existence of more than one infectious agent. In the early 1960s, Blumberg, looking for inherited polymorphic traits in blood from different parts of the world, identified an antigen, subsequently designated as 'Australia antigen', in sera from an Australian aborigine which reacted specifically with an antibody found in serum from an American haemophilia patient. This antigen proved to be geographically restricted, being relatively rare in American and Western European individuals, but more common in African or Asian populations, and in patients with certain distinct pathologies, including leukaemia, leprosy and Down syndrome. The association of Australia antigen, now known as hepatitis B surface...

Abnormalities of Connection

The echocardiographic method of diagnosing cardiac abnormalities prenatally generally follows the same rules as in postnatal life. For example, in tricuspid atresia, no patent valve is seen in the normal position between the right atrium and right ventricle. The associated right ventricular hypoplasia and ventricular septal defect are also appreciable (Figure 4.6). The connections of the great arteries in this condition must be identified because this will influence the prognosis. Figure 4.7 shows a common atrio-ventricular valve, closed during systole, in a complete atrio-ventricular septal defect. This is one of the commonest forms of heart disease seen in prenatal life (Machado etal., 1988), representing almost 20 of foetal series, in comparison with the expected rate of around 5 found in postnatal life. This type of defect is found prenatally mainly in association with trisomy 21

Patchy Nonscarring Alopecia

It is a nonscarring, usually patchy but sometimes diffuse, hair loss of unclear cause. Many cases are familial, and it is believed that there may well be an autoimmune etiology. It is seen more commonly in patients with atopic dermatitis, thyroid disease, vitiligo, and Down syndrome.

Olfaction in Neurological Disorders

Deficits in olfaction (acuity, memory, and identification) appear early in the course of a number of neurodegenera-tive disorders, including cortical Dementia of the Alzheimer's Type, and some of the subcortical dementias, namely Parkinson's disease, Huntington's disease, and HIV-related dementia. However, such deficits have not been reported in patients with atypical parkinsonian syndromes, including corticobasal degeneration and progressive supranuclear palsy (see Doty, 2001 Pantelis, Brewer, & Maruff, 2000). These findings are consistent with the nature of involvement of the relevant olfactory circuits in these various disorders, and suggest that smell ability may assist in differential diagnosis. Studies have also found deficits in olfactory memory in chronic alcohol abusers and of identification ability in patients with Korsakoff syndrome (Potter & Butters, 1980). Olfactory identification deficits have also been found in motor neuron disease (MND), multiple sclerosis (MS), and...

Caspases In Neuronal Apoptosis And Neurodegenerative Disorders

Examination of tissue sections from brains of Alzheimer's patients immunostained with an antibody that specifically recognizes activated caspase-3 reveals evidence for caspase activation in vulnerable neuronal populations in the hippocampus and cerebral cortex. Masliah et al.104 stained brain sections from Alzheimer's disease and age-matched control patients with antibodies against activated caspase-3 and reported that, compared to age-matched controls, Alzheimer's patients exhibited greatly increased numbers of neurons with caspase-3 immunoreactivity. Chan and coworkers102 showed that overall levels of activated caspase- 1 activity are increased in hippocampal tissue from Alzheimer patients and that many neurons exhibit immunoreactivity with an antibody against activated caspase-3. The latter study also provided evidence for caspase-mediated degradation of the AMPA-type glutamate receptor subunits in Alzheimer's brain tissue and in cultured neurons exposed to amyloid b-peptide....

Chromosomal Anomalies

Autosomal Abnormalities TRISOMY 21 (DOWN'S SYNDROME) Pathogenesis and Pathophysiology. Several cytogenetic variants can produce Down's syndrome, and trisomy 21 is the most frequent. In this variant, Down's syndrome is due to an extra chromosome 21 or parts of it.y Trisomy of subbands 21q22.1 to 22.3 of the distal part of the long arm of chromosome 21 is the smallest component sufficient to cause Down's syndrome. In patients with trisomy 21, the genes on the extra segment of the chromosome are not found in a double dose as is normal but are tripled. In approximately 1 to 2 percent of cases, Down's syndrome occurs in the setting of mosaicism, in which there are two or more cell populations. Each cell population has a different karyotype, and one has a trisomy 21. The fusion of chromosome 21 with another acrocentric chromosome, most commonly chromosome 14, 21, or 22, may also result in a clinical syndrome that does not differ from that produced by the triplication of the subband 21q22....

For Anthracycline Induced Cardiotoxicity

Concomitant exposure to cyclophosphamide, bleomycin, vincristine,amsacrine, or mitoxantrone, may predispose to cardiotoxicity.Trisomy 21 and black race have been associated with a higher risk of early clinical cardiotoxicity. Other patient characteristics may also be risk factors but are not as well documented. In the previously discussed review of children treated on POG protocols from 1974-1990, African-American race was associated with a higher risk of early cardiotoxicity 35 . This link is consistent with the increased morbidity and mortality found in patients of African American ancestry with other forms of cardio-myopathy 60 . However, few studies have examined the effect of racial and ethnic differences in cancer-related cardiotoxicity. Children with certain types of cancers, including Ewing's sarcoma 59 , acute non-lymphoblastic leukemia and T-cell leukemia, appear to have an increased risk of cardiotoxicity 42 . This is likely the result of the higher doses of anthracycline...

Delta Waves in Pathological Functions

Delta waves are related to pathological functions in at least two ways. The first of these involves the presence of abnormal delta activity. For example, impairments in cortical areas (e.g., due to deafferentation, abnormal development, or necrosis) promote delta waves in regions contiguous to cortical tumors (Amzica & Steriade, 1998), in Down syndrome (which reflects slow and deficient brain development Kaneko, Phillips, Riley, & Ehlers, 1996), and in cerebrovascular disease (Inui, Motomura, Kaige, & Nomura, 2001). Because these rhythms (during wakefulness) are often related to dysfunction in specific areas, they may facilitate intervention strategies, such as the presurgical localization of temporal lobe (Jan, Sadler, & Rahey, 2001) and extratemporal lobe (primarily frontal Geyer, Bilir, Faught, Kuzniecky, & Gilliam, 1999) epilepsies.

Maternal Serum Screening

In maternal serum screening, specific proteins produced by the foetus or placenta are measured and compared with population standards. The ability to detect abnormal levels of hormones and other proteins in the maternal blood has long been the goal of clinicians. Probably, the best known test is the triple screen designed to assess the risk of a mother carrying a foetus suffering from trisomy 21 (Down's syndrome), neural tube defects, trisomy 18, trisomy 13 and sex chromosome aneuploidy.

Cytogenetic models resource

The Cytogenetic Models Resource contains stocks carrying Robertsonian chromosomes, reciprocal translocations, and a segmental trisomy. The breeding colony in the Cytogenetic Models Resource focuses on chromosome aberrations that can be used to study aneuploidy for mouse Chromosome 16, in which many human Chromosome 21 genes are conserved. Included are selected reciprocal translocations, Robertsonian chromosome stocks that can be used to produce embryos with trisomy for the entire Chromosome 16, and a segmental trisomy, Ts(1716)65Dn, for the segment of mouse Chromosome 16 that is homologous to human Chromosome 21, trisomic in Down syndrome. The Resource also has several stocks of mice transgenic for genes from human Chromosome 21 or their mouse homologs. A large number of Robertsonian chromosome stocks previously maintained in this Resource is now available from the Cryopreservation Resource. Each mouse chromosome is present in at least two different Robertsonian chromosomes in these...

Course Of Illness Premorbid Period

Minor physical anomalies are structural deviations with little functional consequence that have been extensively studied because brain and skin are derived from the same ectodermal tissue. Thus minor physical anomalies are considered markers of early neurodevelopmental abnormalities (Lobato et al., 2001). Physical abnormalities are typical of neurodevelopmental disorders such as Down syndrome and epilepsy. Individuals with schizophrenia have a significantly greater number of anomalies than normal individuals. These include low-set ears, high arched palate, curved fifth finger, abnormal nail beds in the hands, excess branching of motor nerve endings, hypertelorism, small head circumference, and narrowing and elongation of the mid and lower facial region with widening of the skull base. The configuration of skin ridges (dermatoglyphics) has also been found to be abnormal or asymmetric in many patients with schizophrenia, including single simian crease and...

Children Under 2 Years

Pierre Robin syndrome and Down syndrome and other genetic syndromes often exhibit breathing problems early in life. In those cases, CPAP may be a good solution until the child has grown enough. A temporary tracheostomy may be life-saving, especially if organic heart disease coexists.


Abnormal neuronal maturation, despite normal migration, is frequently the source of dysplasias that can lead to profound developmental disabilities, including mental retardation. Examples include genetic disorders, such as Down syndrome and Rett syndrome, as well as many unclassified amentias. In these dysplasias, entire brain regions fail to elaborate normally shaped dendritic trees and spines and display altered synaptic densities. Alterations in cortical dendritic length and number of spines have been reported in postmortem tissue from individuals with Down syndrome, a developmental disorder that almost invariably is associated with cognitive deficits. In recent years, with the advent of in vivo imaging techniques, dysplasias can be studied in living individuals and correlated more directly with behavioral changes. Increases in the width of the cerebral cortex in autism and fragile-X syndrome, as well as decreases in width of cortex in Down syndrome, have been observed. These...


Not long afterward, the solution to an old medical puzzle became apparent. A syndrome called furfuraceous idiocy, described in 1846 by French physician E. Seguin, included characteristic facial features, incomplete growth, and mental retardation. In 1867, J. Langdon Down ascribed these traits to the Mongol type. From his publication the term Mongolian idiot replaced the previous name, and later Down syndrome became an interchangeable term. But repeated studies of Down syndrome failed to produce a viable etiologic hypothesis. In 1939, L. S. Penrose noted that the disorder had failed to meet Mendelian expectations - though some favored irregular dominance as an explanation - and that the only clear correlate was late maternal age. Two decades later, the improvements in cytological techniques that allowed determination of the correct number of human chromosomes also provided the solution to Down syndrome. In 1959, three French cytologists announced that patients with Down syndrome had an...


The separation of chromosomes and chromatids normally occurring during mitosis or meiosis may go awry in some cases, with the result that the daughter cells receive too many or too few chromosomes. In Down syndrome, the best-known case of this nondisjunction, a viable embryo is produced, but it has three copies of chromosome 21. Serious or mild mental retardation, increased susceptibility to infections, and various physical abnormalities characterize the victims of the syndrome. Most cases of nondisjunction are even more severe, with the fetus being spontaneously aborted during pregnancy. In other cases, part of a chromosome may be lost during cell division this is known as a deletion. If a deleted part of one chromosome is transferred to another chromosome and becomes part of it, that event is known as translocation. In a special type of Down syndrome called translocation Down syndrome, for example, the individual has three copies of chromosome 21, but one of them is attached to...


Children who snore at birth or before the age of 1 year usually have some congenital anatomical obstruction as a part of a congenital syndrome such as Pierre Robin syndrome, or are abnormally muscular hypotonic as in Down syndrome. When the snoring sound and apneas are produced in the laryngeal entrance, laryngomala-sia is included in the differential diagnosis. Snoring and apneas in an infant always requires special investigation including polysomnography.