Children With Down Syndrome Can Learn

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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Mr Friesen A Case of Doing Ones Best

Friesen, a retired senior civil servant, presented with a multitude of pain complaints, the worst of them being his persistent pain from herpes zoster. He also had a long history of emphysema and periodic episodes of clinical depression. The marriage had a checkered history. The couple attributed their marital problems mainly to his long-standing health issues. Previously they had a daughter living with them who suffered from Down syndrome and was entirely dependent on them. The history revealed that the marriage ran into problems soon after their disabled daughter was born. Mrs. Friesen received very little practical or emotional support from her husband in raising the child, who subsequently died in her late teens.

Wendy Arneson and Jean Brickell

Preanalytical Error in Reproductive Testing How Important Is the Timing QUALITY ASSESSMENT Preanalytical Errors Analytical Factors Postanalytical Factors Case Scenario 12-4. Fetal Assessment for Open Neural Tube Defects and Down Syndrome MoM Testing for Baby's Health ALPHA FETOPROTEIN Open Neural Tube Defects Down Syndrome Trisomy 18 FETAL SCREENING MULTIPLES OF THE MEDIAN Example Calculation of MoM Alpha Fetoprotein Levels and Fetal Disorders OTHER SIGNIFICANT BIRTH DEFECTS AND INBORN ERRORS OF METABOLISM REFERENCE RANGES IN NEONATES Case Scenario 12-5. Hemolytic Disease of the Newborn Two Rh-Negative Mothers

Relationship Between Diagnosis And Prognosis

PERIODONTITIS AS A MANIFESTATION Of SYSTEMIC DISEASES. Periodontitis as a manifestation of systemic diseases can be divided into two categories18,23 ih those associated with hematologic disorders such as leukemia and acquired neutropenias and (2) those associated with genetic disorders such as familial and cyclic neutropenia, Down syndrome, Papillon-l.elcvre syndrome, and hypophosphastasia. Although the primary etiologic factor in periodontal diseases is bacterial plaque, systemic diseases that alter the ability of the host to respond to the mic robial challenge presented may affect Ihe progression of disease and therefore the prognosis for the case. For example, dec reased numbers of circulating neutrophils (as in acquired neutropenias) may contribute to widespread destruction of the periodontium. Unless the neutropenia can be corrected, these patients present with a fair-to-poor prognosis. Similarly, genetic disorders that alter the way the host responds to bacterial plaque las in...

PAPPA as a Marker for Plaque Stability

Icam Intracellular Cardiac

The progression and destabilization of atheromatous plaques involve major changes in the structure ofthe arterial wall. Matrix metalloproteinases (MMPs) are potential indicators of arterial inflammation, and by degrading extracellular matrix, they contribute to the fragility of the lipid-rich, atherosclerotic plaque and finally to its rupture. PAPP-A is a high-molecular-weight, zinc-binding MMPs enzyme that is measured during pregnancy in maternal blood for the fetal diagnosis of Down syndrome. However, low levels of circulating PAPP-A are also physiologically present in both men and women. As previously described for several other MMPs (MMP-1, MMP-3, MMP-12, or MMP-13) (26, 27), data from patients with ACS also indicate the presence of PAPP-A in atherosclerotic plaques (28). Among patients who died suddenly from cardiac causes, PAPP-A was abundantly expressed in ruptured and eroded unstable plaques, but PAPP-A was absent or minimally expressed in stable plaques (28). In plaques with...

Pathologic Features

Down syndrome with Alzheimer's disease. A well-adjusted, neat woman with Down syndrome was easy to get along with and able to perform simple housework until about age 38, when her behavior gradually changed. She neglected her appearance became irritable with screaming and cursing and was unable to help with housework. She developed seizures, and her physical and mental condition progressively deteriorated. During the final stage of her illness, she was mute and totally helpless, dying at age 56 years. The cerebral cortex shows numerous neuritic plaques and neurofibrillary tangles (Bodian stain). Down syndrome with Alzheimer's disease. A well-adjusted, neat woman with Down syndrome was easy to get along with and able to perform simple housework until about age 38, when her behavior gradually changed. She neglected her appearance became irritable with screaming and cursing and was unable to help with housework. She developed seizures, and her physical and mental condition progressively...

Clinical Approach

The triple (or trisomy) screen is used in pregnant women between 15 and 21 weeks' gestation to identify those pregnancies that may be complicated by neural tube defects, Down syndrome, or trisomy 18. It is a multiple marker test, and the term triple is often used to denote that it analyzes three chemicals in the maternal serum to determine the risk for neural tube defects or fetal aneuploidy AFP. hCG, and unconjugated estriol. Although the triple screen may be offered to women older than 35 years or advanced maternal age, genetic amniocentesis provides more diagnostic information. The Quad Screen adds one additional marker, inhibin A. resulting in an increased sensitivity between 7-11 . In contrast to neural tube defects, which have an abnormally elevated msAFP, those pregnancies complicated by Down syndrome have a low msAFP. Again, other causes of abnormally decreased levels of AFP have been identified and are listed in Table 60-2. Unconjugated estriol is also decreased in fetuses...

Comprehension Questions

Down syndrome 60.3 A 22-year-old woman G2 PI at 25 weeks' gestation with a sure last menstrual period asks for serum screening. The patient's sister has one child with Down syndrome otherwise there is no family history of anomalies or genetic disorders. Which of the following is the most appropriate response C. Explain to the patient that it is too late for serum screening but that her risk for Down syndrome is not much higher than her age-related risk. E. The patient has a 25 chance of her baby having Down syndrome. E. Down syndrome

Test Methodology 121 Qualitative Human Chorionic Gonadotropin By Immunoassay

Quantitative hCG tests are more sensitive than qualitative tests, detecting hCG levels at 5 to 10 IU L, and are necessary when ruling out pregnancy before the first menstrual period. This information regarding very early pregnancy is helpful prior to surgery or other potentially harmful medical interventions. Quantitative hCG tests require an automated instrument to read results, often by some labeled immunoassay method, and standard solutions of hCG for instrument calibration and calculation of results. Serial hCG levels are helpful to rule out abnormalities in the pregnancy however, for accurate interpretation of test results, such testing is best performed by the same laboratory using the same methodology.5 In a healthy pregnancy, hCG will double about every 2 days during weeks 2 to 5, while in abnormal pregnancies such as ectopic pregnancies or in impending miscarriage, the hCG levels do not double as quickly or may even decline. Measurement of hCG at 16 to 20 weeks' gestation is...

Ghb With Synthetic Glycogen For Cancerous Cells

Systems Discrete analyzers, 139, 141 Distribution, of drugs, 506-507 Diuresis, osmotic, in diabetes mellitus, 411 Diuretics, metabolic acidosis due to, 308 Diurnal variations, in hormone levels, 378 DNA (deoxyribonucleic acid) in metabolism, 26 in protein production, 19 replication of, in cell cycle, 488-489, 489f Dopamine, 392, 396 Double-pan balances, 98 Down syndrome, testing for, 448-449, 452 Downregulation, of hormone receptors, 375, 376f physiology of, 429, 439-440 in vitro, 443 Fetal testing, 448-464 alpha fetoprotein, 448-452, 450t amniotic fluid collection for, 460, 461t for bilirubin, 456-457, 457f for Down syndrome, 448-449, 452 for galactosemia, 453t for hemolytic disease of the newborn,

Cardiac Malformations and Coronary Artery Disease

Deletions of chromosome 22q11 manifest as interrupted aortic arch in approx 50 of patients, 35 of patients with truncus arteriosus, 33 of patients with ventricular septal defect, and 16 of patients with tetralogy of Fallot, but none with transposition of great vessels (63). This deletion is seen in 90 of patients with DiGeorge syndrome (64). These deletions are also associated with pulmonary artery anomalies (65,66). Cardiovascular malformations are frequently seen in association with various syndromes. Patients with Down syndrome (trisomy 21) also have cardiovascular malformations involving one or more loci on chromosome 21q22.2-q22.3 (67-69). Microdeletions at 7q11.23 are associated with Williams syndrome, which also manifests supravalvular

Common Causes Of Developmental Delay In Infants

Developmental Delay

In the largest group of children with developmental delay, the causes are unknown. The following are some known causes Abnormality in Embryonic Development Prenatal insult (e.g., intrauterine, drug) Chromosomal (e.g., Down syndrome) Hereditary and Genetic Disorders Inborn errors of metabolism Preconceptual genetic abnormalities Environmental and Social Problems Parental psychological social problems with insufficient stimulation of child Childhood mental health disease Other Pregnancy or Perinatal Problems Fetal (e.g., placental insufficiency) Perinatal (e.g., prematurity) Childhood Diseases Infection (e.g., meningitis) Trauma

Genetic Mutation

Genetic mutation plays a pivotal role in the etiology of ALL in children born with Down syndrome with the associated trisomy 21 chromosome abnormality. Alteration and activation of the GATA-1 hematopoietic transcription factor increases the risk for development of ALL and increases the incidence of acute megakaryocytic leukemia as well.31-35 That hematologic malignancies representing different cell lines may become malignant suggests that multiple signaling pathways may be affected by this and other chromosome abnormalities.36 Of interest, the more detrimental chromosome abnormalities, t(9 22) and t(4 11), occur infrequently in Down syndrome.33-35 Favorable abnormalities of the TEL AML1 fusion, denoted by the t(12 21) translocation, are also less frequent in Down syndrome.

Clinical Pearl

Serum screening for neural tube defects or Down syndrome offered and usually performed between 16 to 20 weeks' gestation with the Triple or Quad Screen. First-trimester screening for trisomies with serum pregnancy-associated plasma protein-A (PAPP-A), serum human chorionic gonadotropin (hC6), and nuchal translucency (NT) has gained popularity as well.

S100b

S100B protein is not essential for survival since S100B- -mice present only mild phenotypes (Table 3). They show an enhanced spatial and fear memory associated with strengthened neuronal plasticity (Nishiyama et al., 2002). In addition, enhanced epileptogenesis has been reported (Dyck et al., 2002), probably because of abnormalities in calcium-handling in astrocytes, as evidenced by increased Ca2+ transients upon KCl and caffeine treatment in S100B-deficient neonatal cerebellar glia cells (Xiong et al., 2000). Transgenic mice overexpressing S100B exhibit enhanced explorative activity, reduced anxiety and impaired learning and memory capabilities (Bell et al., 2003 Gerlai et al., 1995 Gerlai and Roder, 1996 Winocur et al., 2001). Interestingly, in humans, higher S100B concentration has been detected after brain trauma and ischemia, making S100B a potential diagnostic protein in traumatic brain damage (Rothermundt et al., 2003). An increased concentration of S100B has also been found in...

Stages Of Mitosis

The DNA molecules of an interphase cell can only be observed using an electron microscope (page 8). However, at mitosis, when they condense, individual chromosomes can be made out easily using a standard light microscope (page 76). Mitotic cells can then be screened for chromosome abnormalities such as the presence of three copies of chromosome 21, a condition that causes Down syndrome, and the Philadelphia chromosome, a rearrangement between chromosomes 9 and 21 (which results in a form of leukemia).

Gene Splicing

A much simpler organism has given us a glimpse of the possibilities of splicing as a mechanism to generate phenotypic complexity. The drosophila homologue of the human Down syndrome cell adhesion molecule (DSCAM) has 115 exons, 20 of which are con-stitutively spliced and 95 of which are alternatively spliced (Schmucker et al., 2000). The alternatively spliced exons are organized into four clusters, with 12 alternative versions of exon 4, 48 versions of exon 6, 33 versions of exon 9 and two versions of exon 17. These clusters of alternative exons code for 38,016 related but distinct protein isoforms

Case

A 22-year-old woman who has never been pregnant before presents to you after having a positive home pregnancy test. She has no significant medical history. Upon further questioning, she states that she is unsure of the date of her last menstrual period. She denies any symptoms and is worried as she has not felt the baby move thus far. She is also concerned as she recently had dental x-rays taken prior to discovering that she was pregnant. Patient denies the use of any drugs, alcohol, or tobacco. She inquires about when she can get an ultrasound and a genetic test to rule out Down syndrome.

Michael Yu Wang

Of tertiary structure Dscam The Drosophila melanogaster Down syndrome cell adhesion molecule (Dscam) gene this gene encodes an axon guidance receptor and can generate 38,016 different isoforms via the alternative splicing of 95 variable exons. Dscam contains 10 immunoglobulin (Ig), six Fibronectin type III, a transmembrane (TM), and cyto-plasmic domains.

Analysis

Women who will be 35 years old or older at the anticipated time of delivery should be educated about age-related risk, particularly the increased risk of Down syndrome. They should be counseled about the available screening and diagnostic testing available, along with the appropriate time frame in which each test may be performed. At 15-20 weeks' gestation (preferably between 16 and 18 weeks' gestation) a trisomy screen should be offered to patients. The most common test in use now is the triple screen, which tests serum human chorionic gonadotropin (hCG), unconjugated estriol, and a-fetoprotein. This test screens for trisomy 21, trisomy 18, and neural tube defects. The triple screen is approximately 65 sensitive and 95 specific for detecting aneuploidy. More recently, adding inhibin as a fourth analyte for the so-called quad screen increases the sensitivity to approximately 80 without increasing the false-positive rate. The most common cause for a false-positive serum screen is...

Trypanosomiasis

A 7-year-old girl with Down syndrome died 2 weeks following an acute Entameba histolytica enterocolitis. The brain shows a poorly demarcated abscess in the temporal lobe with purulent necrotic walls. Entameba histolytica abscess. A 7-year-old girl with Down syndrome died 2 weeks following an acute Entameba histolytica enterocolitis. The brain shows a poorly demarcated abscess in the temporal lobe with purulent necrotic walls.

Figure

Genetic syndromes have been reported in an estimated 2.6 of British children diagnosed with leukemia 90 of these attributable to Down syndrome (DS, constitutional trisomy 21) 9 . Whereas the pathogenic basis for the 10- to 20-fold increased risk of ALL in individuals with DS has not been elucidated, somatic mutations of the GATA1 gene are seen in virtually all cases of DS-associated AML and may be implicated in the development of megakaryoblastic AML seen in these patients 10, 11 . Such mutations may also confer enhanced leukemic sensitivity to cytarabine via dysreg-ulation of cytidine deaminase gene expression 12 .

Fetal Screening

The occurrence of Down syndrome and open neural tube defects are frequent . . ,. , can be performed in utero to correct some complications such as heart defects in Down syndrome or neural tube defects. Finally, prenatal counseling can begin early to prepare the family for a baby with one of these disorders.25 Screening for fetal disorders such as Down syndrome or spina bifida can be done simply with maternal serum at 16 to 18 weeks of pregnancy. Like most screening tests, the medical decision limits are set so that they are sensitive for detecting the disorder and not likely to have a false negative, overlooking the presence of the disorder. Thus a negative or normal result generally indicates the fetus does not have the disorder in question. Screening tests are not definitive and require additional tests such as high-resolution ultrasound and amniocentesis to rule out false-positive results and provide a more definite result.25 Interpretation of the screening tests depends on which...

Etiology

There are only a few proven etiologic factors for childhood AML, for example in utero exposure to alcohol, exposure to benzene, ionizing radiation, or different drugs that may contribute to AML in young children. The risk of AML is increased in children with congenital syndromes such as Fanconi anemia, Shwachman syndrome, and Down syndrome. Somatic mutations of the GATA 1 gene are seen in virtually all cases of AML associated with Down syndrome and may be implicated in

Alpha Fetoprotein

Alpha fetoprotein (AFP) is the most significant protein found in the second trimester fetus. It is a transport protein produced by the fetal liver with a function similar to that of albumin in the infant or adult body fluids. Its main role is to bind and transport substances that are not very water soluble, such as steroid hormones, vitamins, lipids, and bilirubin. It is found in amniotic fluid and maternal circulation only in small amounts under normal circumstances due to its large molecular weight and inability to diffuse readily to maternal circulation from the fetoplacen-tal circulation. AFP levels in maternal serum (MSAFP) correlate with some birth defects in the fetus. For example, MSAFP is found at lower than expected levels in Down syndrome and at higher than expected amounts in open neural tube defects. Down Syndrome Down syndrome occurs in about 1 in 800 live births, increasing in incidence in mothers over the age of 35 years. It is a serious congenital disorder of the...