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.

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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...


The outcome of lawsuits with similar claims and facts is not always predictable or consistent among the states. In Becker v. Schwarz,11 the parents of a child with Down syndrome were suing for a failure to counsel on the increased risk of advanced maternal age and the failure to refer for genetic counseling. The New York court allowed the parents to recover damages for the cost of the treatment for their child. One year later in New Jersey, in Berman v. Allan,12 the New Jersey court ruled that the parents of a child with Down syndrome born to a woman who was over 35 years of age could recover for emotional, but not economic, harm.

DYR Stainier D Beis B Jungblut and T Bartman

Cardiac valves form at three sites along the anteroposterior (AP) axis of the developing heart the outflow tract, atrioventricular (AV) boundary, and sinus venosus. Their function is to ensure unidirectional blood flow through the heart. Cardiac valves derive from endocardial cells that first form endocardial cushions, which are later remodeled into valves and septae. Prior to valve formation, the cushions themselves may be critical in controlling in-tracardiac flow therefore, derangement of endocardial cushion formation can lead to lethality from early embryonic stages. In mammals, disrupted endocardial cushion formation leads to various heart defects, including particular types of atrial septal defects (ASDs), ventricular septal defects (VSDs), and, in the most severe form, AV canal defects (aka AV septal or endocardial cushion defects). AV canal defects account for 5 of cases of human congenital heart disease (CHD) (i.e., 1600 cases in the U.S. per year), making it the fourth most...

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...

Precordial Movement And Palpation

A, Transverse palmar crease in a 6-month-old infant with Down syndrome. B, Ninety degree external rotation of the hips in a 16-month-old child with Down syndrome. At age 3 years, the hips spontaneously dislocated. A, Transverse palmar crease in a 6-month-old infant with Down syndrome. B, Ninety degree external rotation of the hips in a 16-month-old child with Down syndrome. At age 3 years, the hips spontaneously dislocated.

The Electrocardiogram

Toscano-Barbosa recognized that certain features of the QRS complex were distinct, stating that, the similarity that may exist in the precordial leads may lead one astray from the differences that almost universally exist in the extremity leads which are of real discriminatory value.425 These features are more clearly illustrated by vectorial analysis (Fig. 15-97).425 Left axis deviation varies from moderate to extreme, and the QRS axis is either superior to the left or superior to the right with a mean that may reach minus 180 degrees.48,134,154,271 Extreme left axis deviation is a feature of Down syndrome (Fig. 15-98). Counterclockwise depolarization results in Q waves in leads 1 and aVL (Fig. 15-99). The S waves in leads 2, 3 and aVF are characteristically notched on their upstrokes (Figs. 15-99 and 15-100) because of a change in direction of the terminal force of the QRS illustrated in the vector loop (Fig. 15-97). Occasional examples of ostium secundum atrial septal defects with...

Physical Appearance

Asian patients are likely to have doubly committed subarterial ventricular septal defects (see earlier).83 Ventricular septal defects also coincide with the physical appearance of trisomy 18 (see Figs. 19-5 and 20-11) and Down syndrome (see Figs. 15-90 and 15-91). 14,137,147,230 Additional relationships exist between physical appearance and ventricular septal defects in trisomy 13, trisomy 8 and 9 mosaic rare aberrations such as 5p- (cri du chat), 13q-, and 18q-128,161 Holt Oram syndrome267 Cornelia de Lange syndrome162 Klippel-Feil syndrome163 cardiofacial syndrome36 and fetal alcohol syndrome.212

Donald L Price1234 Tong Li14 Huaibin Cai5 and Philip C Wong134

Genetic risk factors for AD include mutations in APP (chromosome 21) mutations in presenilin 1 (PS1) (chromosome 14) and PS2 (chromosome 1) and different susceptibility alleles of ApoE (chromosome 19) (Price et al., 1998 Tanzi and Bertram, 2001 Sisodia and George-Hyslop, 2002 Mayeux, 2003 Ghiso and Wisniewski, 2004). The presence of autosomal dominant mutations in APP, PS1, or PS2 usually causes disease earlier than occurs in sporadic cases. Genetic testing can identify individuals with these mutations. Individuals with trisomy 21 or Down's Syndrome (DS) have an extra copy of APP (and other genes) in the obligate DS region these individuals develop AD pathology relatively early in life. The presence of ApoE 4, in a dose dependent fashion, predisposes to later onset AD (Strittmatter et al., 1993 Corder et al., 1994). The proteins encoded by mutant genes and the alleles of ApoE are discussed below. Significantly, other loci that confer risk have been identified (Bertram et al., 2000...

Four Stages of Screening

At high risk of having vision disorders, including those who are mentally retarded or who have trisomy 21 or cerebral palsy and all children who show signs or symptoms of visual problems, experience school failure, or have reading difficulties or other learning problems (e.g., dyslexia). It is important to note that children with learning disabilities such as dyslexia have the same incidence of ocular abnormalities (strabismus, refractive error) as children without such disabilities. Dyslexia involves interpretation by cortical processing centers and does not generally indicate any ocular pathology. Eye defects do not cause letter, number, or word reversal.

Eye Problems in Childhood and Their Influence on

Nell Blaine (American 1922-96) said two things influenced her to become a painter, One was making art when I was a sick child in bed and the other was the improvement in my eyesight from glasses and operations. When Blaine was finally able to see well, the world looked so beautiful to her that it became the subject of her art for the rest of her life. Sometimes eyeglasses can only give a partial correction as they do with Raymond Hu (American, b. 1977), who works with his eyes just inches away from the paper. Yet with parental encouragement, art lessons, and supplies, Hu started making art as a teenager and continues working today. Despite the poor fine motor control that is associated with his condition of Down syndrome, Hu perseveres and forged a new watercolor technique combining Asian and Western elements.

Alzheimers Disease and Alzheimers Dementia

Following age, apolipoprotein E (ApoE) status is the second most important risk factor. In both familial late- onset y and sporadicy cases, the ApoE epsilon-4 allele increases risk and the epsilon-2 allele decreases risk. y The lifetime risk of AD in people without a family history increases from 9 percent without an ApoE epsilon-4 allele to 29 percent with one copy of the ApoE epsilon-4 allele. y ApoE epsilon-4 homozygotes make up roughly 2 percent of the population, but approximately 83 percent are estimated to develop AD in their lifetime, y similar to the 91 percent reported in familial late-onset cases. y , y In limited populations, other genetic factors play a determining role including Down's syndrome (trisomy 21), y familial early-onset Alzheimer's kindreds (chromosome 14),y and the Volga German kindreds of familial early onset AD (chromosome 1). y 3. Down's syndrome (trisomy 21) Down's syndrome has a strong association with AD. If a patient with Down's syndrome (trisomy 21)...

Antenatal Screening

Amniocentesis entails taking a sample of the fluid from around the fetus. This is usually performed at about 16 weeks' gestation and permits the chromosomal analysis of cultured cells from the fluid. This may be carried out in the context of a couple's high risk of genetic disease or as part of a screening program aiming to identify (and terminate) Down syndrome fetuses. Amniocentesis can result in an increased risk of miscarriage in the pregnancy (the increase in risk being of the order of 1 in 200 procedures, but varying with the center and the operator). 3. Maternal serum screening is carried out on a blood test from the pregnant woman the level of particular materials in the serum (notably alpha fetoprotein and beta-HCG) gives some indication of the probability that the fetus has Down syndrome this is interpreted along with the age-dependent risk of Down syndrome to give a combined probability. Women whose pregnancies have a chance of having Down syndrome of greater than 1 in 200...

Accounting for Amniocentesis

Of course, Jerome Lejeune was not thinking about his enrollment in largescale social transformations on that April day in 1958 when he peered through an aged microscope discarded by the bacteriology department at the Hopital Saint-Louis in Paris at a sample of smooth muscle tissue taken from three patients with Down syndrome. Lejeune, a French geneticist, and his cardiologist colleague Marthe Gauthier had used the innovative techniques of tissue culture to treat the sample. The full complement of human chromosomes had only been confirmed as forty-six in 1955-56. Lejeune was trying to assess whether his patients with Down syndrome lacked one human chromosome (as, by analogy, some abnormal fruit flies lacked one fruit fly chromosome). Instead, he (or, perhaps more accurately, he and Gauthier) discovered that they had a surfeit. Then, and in subsequent studies, tissue samples taken from people with Down syndrome yielded a chromosome count of forty-seven. With great hesitation, he...

Why are so many more children diagnosed with ASDs today

There have been news reports of an epidemic of autism. Autism is the fastest-growing serious developmental disability in the United States. It is five times more common than Down syndrome, three times more common than juvenile diabetes, and more common than multiple sclerosis, cystic fibrosis, and childhood cancer. ASDs are not only confined to the United States there are reports of increased rates of diagnoses on a worldwide basis.

An Error in Cell Division or The Power of Positive Diagnosis

THE SHOCK OF RECEIVING BAD NEWS is never routine, no matter how ordinary its contents may be for the diagnostic laboratory. The discovery of an extra number 21 chromosome in fetal cells on a slide produces the cytogenetic technicians' most common positive diagnosis of Down syndrome. But every woman with whom I have spoken recalls the delivery of this, and every other diagnosis, vividly. The receipt of a diagnosis shatters the routine of daily life The use of abortion after a serious positive diagnosis seems almost automatic, if nonetheless painful for some women, especially under two conditions. One is the diagnosis of Down syndrome, with which they feel familiar. This diagnosis is the single most common one made through amniocentesis, and accounts for almost half the chromosome problems detected. While there are no national figures for abortion rates following positive diagnosis, epidemiological and biostatistical experts estimate that more than 90 percent of women receiving this...

How Methodology Bleeds into Daily Life

Agendas of prenatal testing, and how are they enacted for and by different individuals and communities How are popular understandings of genetics and inheritance shaped in contemporary America What does scientific literacy mean in a culture as deeply stratified as our own I have worked on these problems as an anthropologist and as a feminist activist for more than a decade. In learning about the social impact and cultural meaning of prenatal diagnosis, I have used standard anthropological methods of participant observation. That professional umbrella is a catchall label for hands-on research that is open-ended, and locates the researcher as far into the experiences of the people whose lives are touched by the topic as she can figure out how to go. My methods have been as conventional as sitting through medical school lectures or interviewing candidates for prenatal diagnosis in English, Spanish, and sometimes French as arcane as learning to recognize and cut up laboratory photographs...

Disorders of Neutrophils Neutrophilia

There are two major categories of neutrophilia, primary and secondary. Primary neutrophilia is related to defects in the production or maturation of neutrophil precursors in the bone marrow, associated with conditions such as chronic myelogenous leukemia (CML) and PV. Rare genetic forms of neutrophilia include the type associated with Down syndrome infants, who may express intermittent leukemoid reactions. In the presence of an enlarged spleen, myelocytic precursors in the peripheral blood, increased levels of basophils and eosinophils, and a low leukocyte alkaline phosphatase (LAP) level, the diagnosis of CML is highly probable. Unless neutrophilia is caused by a myeloprolifera-tive syndrome, treatment is usually not indicated.

Sample WriteUp of a Newborns History

Tinea Cruris With Menstrual Period

This 2830-g female infant was born at 38 2 7 weeks to a 47-year-old G1 P0-0-0-0 mother by NSVD (normal spontaneous vaginal delivery) at 1 35 am on 1 16 2008. The pregnancy was complicated by chronic hypertension, for which the mother was treated with Aldomet (methyldopa). The mother is O+ and hepatitis B surface antigen, syphilis, HIV, and Chlamydia negative. Amniocentesis at 14 weeks revealed a 47,XX trisomy 21 karyotype. The mother continued the pregnancy, despite the amniocentesis results, explaining that she ''wanted to know what I would be facing beforehand.'' At 36 weeks, a vaginal culture for group B streptococcus was negative. Mother went into labor at 38+ weeks she developed malignant hypertension unresponsive to magnesium sulfate, so a C-section (cesarean section) was performed under general anesthesia after 17 hours of labor. Rupture of membranes was at delivery. The baby's Apgar scores were 5 and 8, with points off for tone, reflex, respiratory effort, and color at 1...

The Modern Era of Medical Genetics Three Examples of Excellent Knowledge

Two disorders that contributed greatly to this progress were sickle-cell anemia and Down syndrome. The Arrival of Cytogenetics Down Syndrome From this publication the term Mongolian idiot replaced the previous name for the condition, and later the term Down syndrome became interchange able with it. For the next 92 years repeated studies of Down syndrome failed to produce a viable etio-logic hypothesis. L. S. Penrose (1939) summarized the state of knowledge by noting that the disorder had failed to meet Mendelian expectations, though some had favored irregular dominance as an explanation, and that the only clear and stable correlate was late maternal age. Penrose (1939) ended his paper by suggesting that Mongolism and some other malformations may have their origin in chromosome anomalies. Two decades later the improvements in cytological techniques that allowed the correct number of human diploid chromosomes to be determined also provided the solution to Down...

Endings Are Really Beginnings

IN THE PRECEDING CHAPTERS, I have attempted to analyze the social impact and cultural meanings of prenatal diagnosis from the perspectives of many different kinds of people pregnant women and their supporters who used or refused the test genetic counselors, geneticists, lab technicians, and others involved in the provision of relevant health services parents of children with some of the same disabilities that can now be diagnosed prenatally, and professionals who work with those children. I began by describing salient aspects of the intersecting histories of human genetics, eugenics, and relevant legal formations within which the development and routinization of amniocentesis and its associated technologies came to make sense The seemingly intimate and private realm of contemporary women's pregnancies and their outcomes converge with these international, national, and local developments. It was against this sociohistorical background, and the escalating geneticization of the history...

Examples of Genetic Testing Preconception and Prenatal Screening

Down syndrome, unexplained mental retardation High-resolution ultrasound and quadruple serum panel are screening tests for congenital anomalies associated with a variety of genetic conditions. More invasive testing, such as chorionic villus sampling (CVS) and amniocentesis, may provide more accurate diagnosis, but at the cost of higher risk of complications. Recent guidelines suggest that amniocen-tesis be offered to all pregnant women to aid in the detection of Down syndrome (ACOG, 2007). The family physician should evaluate the risks and benefits of all forms of prenatal genetic screening or testing, discuss them with the patient and her partner, and make referrals to health care providers with genetics expertise as appropriate.

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. 1 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....

Preconception Counseling

All pregnant women should be offered prenatal screening for trisomy 21 (Down syndrome) and neural tube defects. For most women, maternal serum quadruple analyte screen (quad screen) is the most appropriate screening test. The quad screen measures serum levels of alpha fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol, and inhibin-A. Inhibin-A was added to the prior triple screen to improve the detection of trisomy 21. For women younger than 35, the triple screen detects approximately 75 of trisomy 21, 90 of anencephaly, and 80 of spina bifida if measured between 16 and 18 weeks' gestation (Benn et al., 2003 Graves et al., 2002). Using the quad screen, approximately 85 of trisomy 21 cases can be detected. The quad screen also has a false-positive rate for trisomy 21 of 8.2 after correction of major gestational errors, so a positive quad screen indicates a 1.9 risk for true trisomy 21 (Benn et al., 2003).

Summary and Prospects

The history of the study of human genetic diseases is not unlike that of any other area of medical science. It has been marked by periods of superstition and pseudoscience as well as by flashes of brilliant insight such as those of Maupertius, Adams, and Garrod. It has also been characterized by an exponential increase in fundamental understanding coupled with technological and methodological breakthroughs, as was clearly exemplified by sickle-cell anemia and Down syndrome. The recent development of recombinant DNA technology has ushered in a revolution in the study of human genetic disease, a quickening of

History and Geography

Probably the earliest record of Down syndrome was a Saxon skull excavated in the seventh century showing osteological changes consistent with the condition. There are also accounts of sixteenth-century paintings of children having the features of the syndrome. The first accounts of Down syndrome, however, did not appear until the nineteenth century. In 1846 E. Sequin wrote of a specific type of mental retardation case, which he described as a furfura-ceous cretin with its white, rosy, and peeling skin, with its shortcomings of all the integuments, which give an unfinished aspect to the truncated fingers and nose with its cracked lips and tongue with its The next important reports were presented by John Fraser and Arthur Mitchell in 1875 at the Royal College of Physicians in Edinburgh. Mitchell pointed out the similarities between the syndrome and cretinism (congenital hypothyroidism). Reports by W. W. Ireland and G. E. Shuttleworth followed during the 1870s and 1880s. Shuttleworth...

Epidemiology and Etiology

The presence of the additional number 21 chromosome in all cells of the individual with Down syndrome is usually the result of an error in cell division called nondisjunction. In normal cell division, the two members of each of the 23 chromosome pairs separate and move into one of the two resulting cells, whereas in nondisjunction, both members of the chromosome pair end up in a single cell. In Down syndrome, the nondisjunction has usually occurred during meiosis (sex cell division) usually of the female sex cell (the ovum). Thus, when an ovum with two number 21 chromosomes is fertilized, three number 21 chromosomes (two from the mother and one from the father) will be passed on to all the cells in the developing fetus. The occurrence of Down syndrome is most consistently associated with advanced maternal age, with incidence rising from 0.45 per 1,000 live births in women 20 to 24 years of age (8 studies) to 9.4 per 1,000 live births for women 40 to 44 years (7 studies). The largest...

Distribution and Incidence

Recent estimates of overall worldwide incidence of Down syndrome are around 0.8 per 1,000 live births (Janerich and Bracken 1986). In the United States, the 1983 Birth Defects Monitoring Program indicated an incidence of 0.82 per 1,000 live births. These figures evidence a decline from those reported 20 years ago in Western countries, where incidence was about 1.7 per 1,000. This change is thought to be the result of the use of prenatal diagnosis. Down syndrome occurs in all races and ethnic groups, though good documentation of specific incidence in many groups and geographic areas is lacking (Lilienfeld 1969). There is some evidence for spatial aggregation, such as in northern Finland and British Columbia (Janerich and Bracken 1986), but these instances appear to be sporadic, and are probably related to environmental sources.

Clinical Manifestations

The most easily recognizable features of Down syndrome derive from abnormalities in growth of the cranium and face. These include a short, relatively broad head (brachycephaly), hypoplastic maxilla, upslanting palpebral fissures, epicanthal folds, increased neck skin, small ears, and flattened nasal bridge. Common postcranial anomalies include a wide space between the first and second toe, abnormal finger and palm dermatoglyphs (in particular, the occurrence of single palmar creases), and shortened distal long bones. About 80 percent of children with Down syndrome are hypotonic and 90 percent are hyperflexible. There are also variably associated major organ anomalies, the most important being congenital heart disease (CHD), which occurs in 30 to 50 percent of all children with Down syndrome. In addition, metabolic and hormonal systems are variably affected and include, among others, carbohydrate metabolism, deficient absorption of vitamin A, elevated serum uric acid, and abnormal...

Pregnancy Associated Plasma Protein A

Pregnancy-associated plasma protein A (PAPP-A), a zinc-binding metalloproteinase that is secreted by activated macrophages, fibroblasts, vascular smooth muscle cells, osteoblasts, and placental syncytiotro-phoblasts, functions to activate insulin-like growth factor-1 (lGF-1) through actions on IGF-binding protein (IGF-BP). Although the role for PAPP-A as a biomarker for Down syndrome during pregnancy is well established, its potential role with respect to coronary atherosclerosis and ACS has only recently been recognized.

The Specialneeds Athlete

Muscular dystrophy, and multiple sclerosis. The benefits of exercise for the special-needs athlete are the same as those for other athletes. Additionally, special-needs athletes have fewer pressure ulcers, fewer infections, improved proprioception, increased proficiency using prosthetic devices, and decreased hospitalizations. The Special Olympics and the United States Paralympics require a preparticipation examination to be done within 12 months of competition. An office-based examination is preferred for these athletes. Questions on which the physician should focus are listed in Table 2-4. These questions should be asked and appropriate consultations made if needed. Special attention should be given to the vision, cardiovascular, neurologic, dermatologic, genitourinary, and musculoskeletal portions of the examination. The functional assessment with sport-specific tasks should be done on all athletes with special needs. Diagnostic imaging should be done on all athletes at risk of...

Obstructive Sleep Apnea Syndrome

In children, OSAS is most often associated with large adenoids and or tonsils, as well as specific facial features such as micrognathia, macroglossia, and Down syndrome. Unlike adults with sleep apnea, children can be affected without large drops in blood oxygen levels, because children can have frequent brief awakenings to quickly reestablish their airway. Thus, the primary clinical issue may be sleep fragmentation. In the context of a child with snoring and restless sleep, OSAS should be considered any time there are symptoms or signs suggesting sleep deprivation, such as difficulty paying attention, emotional lability, partial arousals during the night (night terrors, sleepwalking), or difficulty waking up in the morning (Dahl, 1998).

Congenital Syndromesdiseases

Down Syndrome Down syndrome occurs in 1 of 1000 newborns and is characterized by a vacant expression on the face, mental retardation, slanting of the palpebral fissures, Brushfield spots, small ears, macroglossia, a simian crease, and a small fifth digit (28) (The associated congenital heart defects are A-V canal, ventricular septal defect, and tetralogy of Fallot) (29).

Prenatal Genetic Diagnostic Testing

If specific risk factors for fetal abnormalities are identified in the mother, appropriate counseling and specific diagnostic testing should be offered. The most common reason to offer prenatal genetic diagnosis is advanced maternal age a somewhat linear increase in nondisjunction in meiosis increases the risk of a conception with aneuploidy (abnormal chromosome number). This is one reason why older women have a higher rate of spontaneous first-trimester miscarriage. It is also why older women are more likely to give birth to a child with a chromosomal abnormality, most often Down syndrome (trisomy 21).

Maternal Biochemical Screening

Biochemical testing is the measurement of certain chemicals in the mother's blood found to be predictive of fetal abnormality. The quadruple screen is a maternal blood test in which one maternal sample drawn at 15 to 20 weeks (but most sensitive at 16 to 18 weeks) is assayed for alpha fetoprotein, estriols, and beta subunit of human chorionic gonadotropin (hCG). Normal ranges vary for each gestational week. Maternal serum alpha-fetoprotein (MSAFP) elevations can result from open neural tube defects such as spina bifida or anencephaly, when the protein leaks from the fetal tissue into the amniotic fluid through the amniocho-rion and into the maternal system. A lower-than-expected MSAFP suggests Down syndrome. The addition of p subunit of hCG and estriols has improved sensitivity for the detection of chromosomal abnormalities (Table 21-5). This test should be offered to any pregnant women with appropriate counseling regarding sensitivity and specificity. Women with abnormal tests should...


If your child has not been formally diagnosed with an ASD, he will fall under the purview of the act if he has experienced significant developmental delays. Early intervention also applies to physical or mental conditions that are likely to result in developmental delays (e.g., Down syndrome). This issue is determined by an assessment that is arranged by the state office of early intervention or by the school district office of special education, depending on your child's age.


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...

General Damages

These two types of compensatory damages are also called intangible damages and tangible damages. A reasonably precise computation is used to calculate tangible, or economic, damages. This can include past and future medical expenses, caretaking expenses, and physical therapy, among other things. The parents in Howard v. Lecher236 recovered money for medical, hospital, nursing and funeral expenses for their child, who had Tay-Sachs disease. The costs of treating their child with Down syndrome were awarded to the parents in Becker v. Schwartz.237


Genetic predisposition plays a predominant role in cases of early-onset AD and interacts with environmental and life-history factors to produce late-onset cases. A number of dominantly inherited genetic mutations can cause early-onset AD, but such cases account for less than 1 percent of the total AD population. Mutations in the pre-senilin 1 gene on chromosome 14, which codes for one of the secreteases that cleave the amyloid precursor protein (APP), account for 50 percent or more of the dominantly inherited, early-onset AD cases (Schellenberg et al., 1992). Most individuals with tri-somy 21 (Down syndrome) develop cortical amyloid plaques consistent with AD by age 40 as a result of carrying an extra copy of the APP gene, which is found on chromosome 21. Patients without Down syndrome who have APP gene mutations can likewise develop AD and account for about 1 to 3 percent of the dominantly inherited, early-onset AD cases (Saint George-Hyslop et al., 1987). Mutations in the presenilin...

Informed Consent

The rule of truth-telling, or veracity, is essential to this element of informed consent. Deception can occur through commission or omission. The physician in Call v. Kezirian190 was found to have a duty to inform his patient, who was over 35 years old, of the availability of amniocentesis and of the risk of having a child with Down syndrome.


I wanted to take the test, but then he said no. At the hospital, I was all gung ho, but on the way home, he expressed his feelings. That whole night, he expressed his feelings. We went back and forth. The next day, I called up so many people. I have this religious aunt, she's the one that made me see Down syndrome, no need to take the test for Down syndrome. It's not necessary. Everything my husband said, she said, too. So I went, Ok, I won't take it. And I didn't take it. (Catherine Judd, 35, African-American secretary) Reproductive history entered strongly into most, perhaps all, of women's decision-making. This is undoubtedly as true for women who accepted the test as for those who rejected it. Moreover, reproductive history was strongly intertwined with sources of knowledge that might be medical, or more broadly social. For example, one mother of a child with Down syndrome refused amniocentesis in a subsequent pregnancy because she had learned too much Down's is only the tip of...

Waiting and Watching

Fighting with numbers is a strategy that frequently characterizes upper-middle-class client interactions, especially male interactions, with genetic counselors. A hospital-based psychologist, for example, challenged the counselor's expertise by asking about the patient population from which the Down syndrome epidemiology was drawn, asserting that his genealogy was full of older women having babies who would never have participated in such a study When the counselor courteously corrected his notion of population sampling, he became quite aggressive and asked about the medical significance of diet as a contribution to birth defects. A biostatistician insisted that he and his pregnant wife had come to counseling for a decision-making tree, as he already had access to all relevant information concerning the incidence and distribution of birth defects statistics he had no time for the counselor's rendition. Watching such interactions, it was hard not to make two judgments first, that male...

The Unexpected Baby

So they diagnosed Amelia right away, on the delivery table. She was barely out, I barely got a chance to catch my breath or marvel at my first baby when this doctor pours this bad news all over us. She's got Down syndrome, he says to us, very coldly. And after he tells us about blood tests and confirmations and all this stuff, we say to him, But what does that mean What should we expect And just as coldly he says, Don't expect much. Maybe she'll grow up to be an elevator operator. Don't expect much. So we clung to each other and cried. (April Schwartz, lawyer, mother of a 4-year-old with Down syndrome) My doctor was so angry with me. He couldn't believe I didn't take that test. How could you let this happen he yelled at me. You're 40 But I think something else Even though he's mentally retarded, he could be a good person It's just like finding out you have a new job. You just do it, and you accept it, that's all there is to it. (Ivana Maldonado, nurse's aide, mother of a 7-year-old...

Genetic Disease

The most recent development in the study of human genetic diseases is traced through three specific examples. Each of these represents a microcosm of the development of medical genetics. Our understanding of the first of them, sickle cell anemia, represents a triumph of the molecular model of human disease. The discovery of the second, Down syndrome, reveals the role in medical genetics of the cytogeneticist, who studies chromosomes. The third, kuru, exemplifies a case in which the expectations of modern medical genetics led initially to an erroneous conclusion, although that failure led eventually to spectacular new knowledge. This essay closes with a brief assessment of the future development of medical genetics in the molecular era.

Subject Index

Bleeding disorders, 55-57 brucellosis, 59 bubonic plague, 63 cancer, 65 cholera, 77 cystic fibrosis, 84 cytomegalovirus infection, 85 dengue, 86 diabetes, 89-92 Down syndrome, 98 dracunculiasis, 98-100 Ebola virus, 107-109 echinococcosis, 110 emphysema, 113 encephalitis, 115 fascioliasis, 123 favism, 124 filariasis, 125, 127 fungal infections, 129, 131 fungus poisoning, 134 gallstones, 135 gonorrhea, 151 gout, 156 disseminated histoplasmosis, 163-64 disseminated lupus erythematosus, 200 distal radius fractures, 237 DNA. See genetic factors dog tapeworm, 319 Down syndrome, 16, 19, 96-98, 143 DPT vaccine, 325-26 dracunculiasis, 98-100 Dracunculus medinensis, 98-99 drip, 150 dropsy, 100-5 in beriberi, 47 characteristics, 100-2 history, 102-5 in hookworm infection, 166 in hypertension, 170 in scarlet fever, 145-46, 289 drug addiction, epilepsy and, 117 drunken bread syndrome, 133 dry bellyache, 185, 187 dry gangrene, 136 Dubin-Johnson syndrome, 56 Duchenne muscular dystrophy (DMD), 224-25...


The tumor occurs bilaterally in as many as 40 of cases. It is generally diagnosed between 14 and 18 months of age, and more than 90 of the tumors are diagnosed by the age of 3 years. Familial retinoblastoma accounts for 6 of patients, but 15 of unilateral cases are carriers for the retinoblastoma gene. The remaining 94 of cases are sporadic. Germinal mutations account for 25 of retinoblastoma cases and somatic mutations for 75 . Most bilateral cases are caused by germinal mutations. The disease is inherited through an autosomal recessive tumor suppressor gene thus the phenotype appears similar to that of autosomal dominant inheritance with incomplete penetrance. It is difficult, if not impossible, to differentiate the genetic mutations clinically and to determine which tumors will be passed on to offspring. There are occasional rare cases of retinoblastoma related to chromosomal abnormalities (partial deletion of long arm of chromosome 13). It has also been associated with trisomy 21.