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.

Teaching Down Syndrome Summary


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Author: Helen Middlebrooke

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Special Aspects of Nutritional Assessment in Down Syndrome

Down syndrome growth charts should be used to plot growth (see Appendix E). Weight for length height should Table 22-7. Medical Diagnoses Associated with Down Syndrome Table 22-8. Nutritional Risk Factors Associated with Down Syndrome Table 22-9. Common Oral-Motor Feeding Difficulties Associated with Down Syndrome be plotted with NC'HS growth charts as this parameter is not available on the Down syndrome growth chart. Energy. Given the short stature inherent to Down syndrome. it has been determined that caloric requirements lor children with Down syndrome aged 5 to 12 years should be based on body height rather than body weight to avoid overestimating'1 (see Table 22-2). It is important to note that obesity is a significant nutritional risk factor for children with Down syndrome, with approximately 25' i being affected.7 Prevention should therefore be the focus by promoting healthy eating habits early in life and avoiding use of food as a reward for good behavior. Regular physical...

Down Syndrome

Down syndrome is the most common chromosomal anomaly associated with mental retardation.7 The chromosomal anomaly involves an extra chromosome 21 (trisomy 21). The incidence is reported to be I case per 800 to 1000 live births, with increasing incidence with increased maternal age.K Approximately 40f ( of children with Down syndrome are born with congenital heart defects, and 15 are born with gastrointestinal malformations.8 Children with Down syndrome are also at risk for other medical complications that can affect their nutritional status as well as their overall development.

Aplastic Anemias with Constitutional Chromosomal Abnormalities

Rare cases of aplastic anemia have been associated with Down syndrome congenital trisomy-8 mosaicism familial Robertsonian translocation (13 14) nonfamilial translocation in a male with t(1 20) (p22 q13.3) and cerebellar ataxia bone marrow monosomy-7 manifesting prior to pancytopenia (familial ataxia-pancytopenia syndrome) and increased spontaneous chromosomal breakage without further increase in breakage with mitomycin C as well as other very rare cases with familial associations.

Degenerative Diseases

Alzheimer disease (AD) results from unexplained degeneration of neurons and atrophy of the cerebral cortex. These changes cause progressive loss of recent memory, confusion, and mood changes. Dangers associated with AD are injury, infection, malnutrition, and aspiration of food or fluids into the lungs. Originally called presenile dementia and used only to describe cases in patients about 50 years of age, the term is now applied to these same changes when they occur in elderly patients. AD is diagnosed by CT or MRI scans and confirmed at autopsy. Histologic (tissue) studies show deposits of a substance called amyloid in the tissues. The disease may be hereditary. People with Down syndrome commonly develop AD after age 40, indicating that AD is associated with abnormality on chromosome 21, the same chromosome that is involved in Down syndrome.

Table 1 List of Some Special Growth Charts

Down syndrome Figure 2 Physical growth of females with Down syndrome (2 1o 18 years). Figure 2 Physical growth of females with Down syndrome (2 1o 18 years). Figure 3. Head circumference of females with Down syndrome (0 to 36 months). Figure 3. Head circumference of females with Down syndrome (0 to 36 months).

Cerebral Palsy And Developmental Disabilities

Down syndromes) Failure to thrive (Rett syndrome, cerebral palsy CP ) Short stature (Down, Hurler's, Russell-Silver, and Cornelia de Lange's syndromes) Gastrointestinal symptoms Diarrhea Constipation Obtaining accurate weight, length height, and head circumference measurements, and plotting serial points over time, provide critical information on growlh adequacy. Growth should be plotted on National Center for Health Statistics (NC'HS) growth charts or specialized syndrome-specilic growth charts if available. Specialized growth charts are currently available for various diagnoses, including Down syndrome. Turner's syndrome. Prader-Willi syndrome, myelomeningocele, sickle cell disease, and achondroplasia (sec Appendix K).1 Accurate measurement of linear growth in children w ith DD may be compromised by the presence ol contractures, scoliosis, kyphosis, or an inability to stand. Alternative methods of linear measurement include crown-rump length or sitting height, arm span, tibial...

Chronic Myelogenous Leukemia

Myeloid blast crisis most common type of blast crisis (80 ) may be myeloblastic or myelomonocytic. Associated karyotypic evolution duplication of Ph1 chromosome, trisomies of 8, 19, or 21 chromosomes, i(17q), t(7 11), acute myelogenous leukemia specific rearrangements, for example, t(15 17). Lymphoid blast crisis less common type of blast crisis (15-20 ), more often B lineage than T. Associated karyotypic evolution duplication of Ph1 chromosome, trisomy 21, inv(7), t(14 14).

Aneuploidy can give rise to genetic abnormalities

Chromosome Abnormalities

If, for example, during the formation of a human egg, both members of the chromosome 21 pair go to the same pole during anaphase I, the resulting eggs will contain either two of chromosome 21 or none at all. If an egg with two of these chromosomes is fertilized by a normal sperm, the resulting zygote will have three copies of the chromosome it will be trisomic for chromosome 21. A child with an extra chromosome 21 demonstrates the symptoms of Down syndrome impaired intelligence characteristic abnormalities of the hands, tongue, and eyelids and an increased susceptibility to cardiac abnormalities and diseases such as leukemia. If an egg that did not receive chromosome 21 is fertilized by a normal sperm, the zygote will have only one copy it will be monosomic for chromosome 21 (Figure 9.18).

Maternal Serum Screening

A search for biochemical markers of fetal status led to development of maternal serum screening tests. One of the first of these tests assessed serum alpha-fetoprotein (AFP) concentrations. AFP is produced normally by the fetal liver, peeks at approximately 14 weeks, and leaks into the maternal circulation via the placenta. Thus, AFP concentrations increase in maternal serum during the second trimester and then begin a steady decline after 30 weeks of gestation. In cases of neural tube defects and several other abnormalities, including omphalocele, gastroschisis, bladder exstrophy, amniotic band syndrome, sacrococcygeal teratoma, and intestinal atresia, AFP levels increase in amniotic fluid and maternal serum. In other instances, AFP concentrations decrease as, for example, in Down syndrome, trisomy 18, sex chromosome abnormalities, and triploidy. These conditions are also associated with lower serum concentrations of human chorionic gonadotropin (hCG) and unconjugated estriol....

Overall incidence of human chromosome mutations

Robertsonian Translocation Chromosome

Now that we have covered a number of analyses bearing on chromosome mutations, let's return to the family with the Down syndrome child, introduced at the beginning of the chapter. It is possible that the birth is indeed a coincidence after all, coincidences do happen. However, the miscarriage gives a clue that something else might be going on. Recall that a large proportion of spontaneous abortions carry chromosomal abnormalities, so perhaps that is the case in this example. If so, the couple may have had two conceptions with chromosome mutations, which would be very unlikely unless there was a common cause. It is known that a small proportion of Down syndrome cases result from a translocation in one of the parents. We have seen that translocations can produce progeny that have extra material from part of the genome, so a translocation involving chromosome 21 can produce progeny that have extra material from that chromosome. In Down syndrome, the translocation responsible is of a type...

Malemediated Teratogenesis

A number of studies have indicated that exposures to chemicals and other agents, such as ethylnitrosourea and radiation, can cause mutations in male germ cells. Epidemiological investigations have linked paternal occupational and environmental exposures to mercury, lead, solvents, alcohol, cigarette smoking, and other compounds to spontaneous abortion, low birth weight, and birth defects. Advanced paternal age is a factor for an increased risk of limb and neural tube defects, Down syndrome, and new autosomal dominant mutations. Interestingly, men younger than 20 also have a relatively high risk of fathering a child with a birth defect. Even transmission of paternally mediated toxicity is possible through seminal fluid and from household contamination

Klinefelters Syndrome And Infertility

Mosome (61), higher rates of aneuploidy (62), and trisomy 21 (63), implying an increased risk of genetic abnormalities in offspring of individuals with KS born using ICSI. Additional selection of sperm from testicular biopsy specimens in individuals with KS may be required to prevent the transmission of genetic abnormalities.


Vasa vasorum feed the outer layers of blood vessels, which are too distant from the vascular lumen to receive nutrition by direct diffusion through the intima. Similar to other pathological conditions (most notably neoplastic tumor formation 25 ) the vasa vasorum are stimulated to grow by the atheroma itself 22 . This angiogenesis is vital for the progression of atheromata 41 . As observed by Judah Folkman 16 , it is an interesting fact that patients with Down Syndrome (trisomy 21) do not develop clinically-significant atherosclerosis, despite living to relatively-advanced ages 6 . This resistance to atherosclerosis may be attributable to the presence of three copies of a gene on chromosome 21, which provide Down Syndrome patients with high serum levels of endostatin 77 , an inhibitor of angiogenesis. This observation suggests that a pathological form of an-giogenesis plays a significant role in the progression of atherosclerosis.


Generally, these prenatal diagnostic tests are not used on a routine basis (although ultrasonography is approaching routine use), being reserved instead for high-risk pregnancies. Indications for using the tests include 1) advanced maternal age (35 years and older) 2) history of neural tube defects in the family 3) previous gestation with a chromosome abnormality, such as Down syndrome 4) chromosome abnormalities in either parent and 5) a mother who is a carrier for an X-linked disorder.


The authors recommend that if a suitable family HLA-matched donor is available, all patients with AML, with the exception of the M3 subtype (acute promyelocytic leukemia) and Down syndrome patients, receive an allogeneic stem cell transplant in the first remission. In the absence of a suitable matched donor, patients should be treated with intensive chemotherapy.

Procedures Embryos

Although most embryo donations are made after they are cryopreserved, embryos are sometimes discarded (and can be donated) before they are frozen. The most likely reason for discarding embryos is because they have chromosomal abnormalities or disease-associated mutations. Pre-implantation genetic diagnosis (PGD) is a procedure performed when there is a concern that the embryos may be abnormal it is often performed when the chances of trisomy 21 are increased because the oocytes are provided by a woman older than 40. PGD can also be used to detect specific genetic diseases, such as cystic fibrosis, Tay Sachs disease, and hereditary cancers. PGD is generally performed by extracting one cell (blastomere) from the eight-cell embryo 3 days after fertilization, and while the remaining embryo develops for 2-3 more days to the blastocyst stage, the blastomere is analyzed by PCR to detect specific mutations or fluorescent in situ hybridization (FISH) for chromosomal analysis of the interphase...

Chapter Overview

A young couple is planning to have children. The husband knows that his grandmother had a child with Down syndrome by a second marriage. Down syndrome is a set of physical and mental disorders caused by the presence of an extra chromosome 21 (Figure 15-1). No records of the birth, which occurred early in the twentieth century, are available, but the couple knows of no other cases of Down syndrome in their families. The couple has heard that Down syndrome results from a rare chance mistake in egg production and therefore decide that they stand only a low chance of having such a child. They decide to have children. Their first child is unaffected, but the next conception aborts spontaneously (a miscarriage), and their second child is born with Down syndrome. Was this a coincidence, or is it possible that there is a connection between the genetic makeup of the man and that of his grandmother that led to their both having Down syndrome children Was the spontaneous abortion significant...


Birth defects may be the result of hereditarily determined characteristics or an environmental condition that affects the prenatal development of the child. For example, Down syndrome (called mongolism in the past because of the shape of the eyes in these children) is caused by a chromosomal defect. Instead of inheriting the normal complement of 46 chromosomes, the child has 47 chromosomes, with the extra chromosome in the twenty-first pair. The result is mental retardation and certain physical characteristics, including stubby fingers, small ears, and eyelids with an unusual configuration.

Box 2

Mental retardation can arise not only from loss or derangement of the function of a gene product but also from aberrant overproduction of a gene product. One example of mental retardation in this category is Down's Syndrome. Down's Syndrome results not from a genetic mutation but from aberrant chromosome duplication, specifically duplication of one copy of chromosome 21. For this reason, Down's Syndrome is also referred to as Trisomy 21. Because of this unique mechanism, Down's Syndrome is not a heritable disorder in the usual sense it arises as an epigenetic phenomenon as part of the initial stages of chromosome replication during oocyte generation or oocyte fertilization.


First Meiotic Division Oogenesis

Figure 1.15 Fluorescence in situ hybridization (FISH) using a probe for chromosome 21. Two interphase cells and a metaphase spread of chromosomes are shown each has three domains, indicated by the probe, characteristic of trisomy 21 (Down syndrome). Figure 1.15 Fluorescence in situ hybridization (FISH) using a probe for chromosome 21. Two interphase cells and a metaphase spread of chromosomes are shown each has three domains, indicated by the probe, characteristic of trisomy 21 (Down syndrome).


Nondisjunction During Anaphase

Break away and become attached to another chromosome. For example, a particular large part of one chromosome 21 may be translocated to another chromosome. Individuals who inherit this translocated piece along with two normal chromosomes 21 will have Down syndrome. As we saw earlier in our discussion of sexual life cycles, both diploid and haploid nuclei can divide by mitosis. Multicel-lular diploid and multicellular haploid individuals both develop from single-celled beginnings by mitotic divisions. Likewise, mitosis may proceed in diploid organisms even when a chromosome is missing from one of the haploid sets or when there is an extra copy of one of the chromosomes (as in people with Down syndrome).

Clinical Correlates

Alzheimer Chromosome

Sometimes chromosomes break, and pieces of one chromosome attach to another. Such translocations may be balanced, in which case breakage and reunion occur between two chromosomes but no critical genetic material is lost and individuals are normal or they may be unbalanced, in which case part of one chromosome is lost and an altered phenotype is produced. For example, unbalanced translocations between the long arms of chromosomes 14 and 21 during meiosis I or II produce gametes with an extra copy of chromosome 21, one of the causes of Down syndrome (Fig. 1.6). Translocations Figure 1.6 A. Translocation of the long arms of chromosomes 14 and 21 at the centromere. Loss of the short arms is not clinically significant, and these individuals are clinically normal, although they are at risk for producing offspring with unbalanced translocations. B. Karyotype of translocation of chromosome 21 onto 14, resulting in Down syndrome. Figure 1.6 A. Translocation of the long arms of chromosomes 14...

The Lymphatic System

Path Lymph Through Body

Graves, a disorder of the thyroid, Addison and Cushing, involving the adrenal cortex, and Down syndrome, a hereditary disorder. The genus and species names of microorganisms often are based on the names of their discoverers, Escherichia, Salmonella, Pasteurella, and Rickettsia to name a few. Although eponyms give honor to physicians and scientists of the past, they do not convey any information and may be more difficult to learn. There is a trend to replace these names with more descriptive ones for example, auditory tube instead of eustachian tube, ovarian follicle for graafian follicle, pancreatic islets for islets of Langerhans, and trisomy 21 for Down syndrome.

Frontal Baldness

Down Syndrome Flat Face

Of human trisomies, the most familiar type is Down syndrome (Figure 15-17), which we discussed briefly at the beginning of the chapter. Down syndrome occurs at a frequency of about 0.15 percent of all live births. Most affected individuals have an extra copy of chromosome 21 caused by nondisjunction of chromosome 21 in a parent who is chromosomally normal. In this sporadic type of Down syndrome, there is no family history of aneuploidy. Some rare types of Down syndrome arise from translocations (a type of chromosomal rearrangement discussed later in the chapter) in these cases, as we shall see, Down syndrome recurs in the pedigree because the translocation may be transmitted from parent to child. The combined phenotypes that make up Down syndrome include mental retardation (with an IQ in the 20-to-50 range) a broad, flat face eyes with an epicanthic fold short stature short hands with a crease across the middle and a large, wrinkled tongue. Females may be fertile and may produce...

Acute Otitis Media

Otitis media occurs more often in males, children in lower socioeconomic groups, and in certain ethnic groups such as Native Americans. Because of differences in the mechanics of the posterior pharynx and eustachian tube, children born with craniofa-cial congenital abnormalities such as cleft lip palate and those with trisomy 21 also are more likely to have otitis media as a complication of a cold.