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

My Teaching Down Syndrome Review

Highly Recommended

The writer has done a thorough research even about the obscure and minor details related to the subject area. And also facts weren’t just dumped, but presented in an interesting manner.

When compared to other ebooks and paper publications I have read, I consider this to be the bible for this topic. Get this and you will never regret the decision.

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Tools for Relating Genes to Features Individuals with Partial Trisomy

On the molecular level, a number of methods were used to define the regions duplicated in patients with partial aneuploidy of chromosome 21. These are quantitative Southern blot dosage analysis and fluorescence in situ hybridization (FISH), as described by Korenberg et al. (1994). Each utilizes a series of previously mapped chromosome 21 DNA markers to define the copy number and or structural rearrangement of the aneuploid chromosome, where the approximate map positions and order for each of these loci was first indicated by physical mapping studies (Cox and Shimizu, 1991 Gardiner et al., 1990 Korenberg et al., 1989 Owen et al., 1990) and now by reference to the DNA sequence of chromosome 21 as described elsewhere in this volume. Combining the results from all methods produced information both on copy number and on structural orientation of regions on chromosome 21 duplicated and or deleted in each of the individuals with partial trisomy 21. A summary of the molecular studies on many...

Testing for Down Syndrome

Cytogenetic analysis looks at the number and structure of a person's chromosomes. This test, which can be performed on a blood sample, is the test used to definitively determine if an individual has Down syndrome. Risk of Down syndrome and other chromosomal abnormalities increases with maternal age. Adapted from Evans, 1989. Risk of Down Syndrome Prenatal diagnosis for Down syndrome (testing for the condition during pregnancy) is possible. Chromosome studies can be performed on fetal cells collected via chorionic villus sampling (CVS) at ten to twelve weeks of pregnancy or by amniocentesis at fifteen to twenty weeks of pregnancy. Because of the link between the mother's age and the chance of Down syndrome, prenatal diagnosis for Down syndrome and other chromosome conditions is routinely offered to women thirty-five and older. Whether to pursue prenatal diagnosis is a personal decision that can only be made by the parents. see also Birth Defects Chromosomal Aberrations Meiosis...

Illiteracy In People With Down Syndrome The Great International Tragedy

I find illiteracy among people with Down syndrome a tragedy one that is international in scope. Fowler et al. (1995) estimated a 60 illiterate rate among people with DS. If this is true for the U.S., where reading is generally a part of the curriculum for students with DS and where most schools try, worldwide, I would expect the illiteracy rate to be much higher. This is a great waste of human potential and resources that are generally allotted for the student's education. Just think of what it would be like to go through school and not be able to read to never have a text book, to never be able to take notes, to never be able to look up information that you forgot, and never be able to follow written directions. You are expected to learn and remember through verbal instruction. And your short-term verbal memory is your weakness And your strength is visual memory. Recent advances in technology have made it possible to study the brain. Wang (1996) cites magnetic resonance imaging...

The Genetic Origin of Congenital Heart Disease in Down Syndrome

To identify the chromosome 21 gene(s) responsible for heart disease in DS, we have used data from the panel of individuals with partial trisomy 21 (Fig. 20.1) combined with the recently published map of chromosome 21 genes (Hattori et al., 2000 Barlow et al., 2001a). There are 19 individuals in the partial trisomy panel, 8 of whom have typical DS-CHD, which includes atrioventricular septal defects (AVSDs), atrial septal defects (ASDs), ventricular septal defects (VSDs), and tetralogy of Fallot (TOF). Figure 20.8 shows the regions of chromosome 21 triplicated in these eight individuals. All of their triplications overlap, and the total risk of CHD for individuals with this region (8 14 or 57 ) is about the same as for full trisomy 21 (50-60

Meiotic Nondisjunction And Down Syndrome

Prevalence and Consequence of Down Syndrome Down syndrome or trisomy 21 is a complex metabolic and genetic disorder that stems from the failure of chromosome 21 to segregate normally during meiosis (84,85). It is the first clinically defined syndrome shown to be chromosomal in origin and, as a result, has been the prototype for intense clinical, cytogenetic, epidemiologic, and molecular investigation into mechanisms of human aneuploidy. The origin of the extra chromosome 21 has been shown to be maternal in almost 90 of cases, with approx 10 of cases resulting from paternal nondisjunction and a very small proportion of cases resulting from postzygotic mitotic nondisjunction (mosaics) (86). Down syndrome is the most common genetic cause of human mental retardation and occurs with a prevalence of approx 1 in 600-1000 live births. In addition to mental deficiency, 40-50 of children with Down syndrome have congenital heart defects (primarily endocardial cushion defects), about 5 have...

The Origin of Trisomy

Over the past decade, DNA polymorphisms have been used to investigate the parent and meiotic stage of origin of over 1000 trisomic fetuses and liveborns (Table 21.1). Trisomy 21 has been the most extensively studied condition, with over 700 informative cases. Chromosome segregation errors in the egg (i.e., maternal nondisjunction) predominate, accounting for approximately 90 of cases. Of these, over 75 are due to nondisjunction at maternal meiosis I (MI), with a smaller contribution from maternal meiosis II (MII) errors. A small proportion of cases of trisomy 21, about 10 , are apparently due to paternal meiotic errors or to postzygotic mitotic nondisjunction. The other human trisomies that have been studied display remarkable variability in origin (Table 21.1). Nevertheless, the available evidence suggests that like trisomy 21 errors at maternal MI are responsible for most human trisomies. It seems likely that factors associated with the origin of trisomy 21 pertain to other...

Chromosomal Basis of Down Syndrome

In 1959 French geneticist Jerome Lejeune recognized that individuals with Down syndrome have forty-seven chromosomes instead of the usual forty-six. Later, it was determined that it is an extra copy of chromosome 21 that causes the condition. It is not yet clear how the extra chromosome causes the clinical features, although it is believed that an extra dose of one or more of the genes on the chromosome is responsible. Down syndrome is a chromosome disorder that causes mental retardation. Characteristic features of Down syndrome include a flattened midface, small ears and mouth, and short, broad hands. Down syndrome is a chromosome disorder that causes mental retardation. Characteristic features of Down syndrome include a flattened midface, small ears and mouth, and short, broad hands. There are three types of Down syndrome trisomy 21, mosaic Down syndrome, and translocation Down syndrome. In 94 percent of cases, the extra copy of chromosome 21 stands alone (is not attached to any...

Making It Easier To Have Down Syndrome

Thomas, at age 13, had impressive reading and math skills when he entered middle school, and he was following a modified curriculum. He tried hard and was doing his best. But his best was not good enough. The work was too hard. He observed how easy it was for his classmates. He became depressed. He told his mother that he did not want to have Down syndrome any more. He said that it was just too hard to have Down syndrome. He wanted to be rid of it His parents could not make the Down syndrome go away, but they could work on making it easier for him to have Down syndrome. Instead of struggling through as a Squatter with the schoolwork as the end product, he needed a curriculum that made him a Citizen with competencies, citizenship (and fun) as the end product. His Down syndrome entitles him to the privilege of an Individualized Education Program a curriculum designed to match his needs and abilities. He does not have to fit into a program that was designed to meet the needs of students...

New Opportunities for Understanding Down Syndrome

The DNA sequence of chromosome 21 by itself reveals new complexities that must be dealt with when studying Down syndrome. Thus the presence of several related genes very close to each other raises some interesting questions. Even more perplexing is the finding that in many cases closely related genes exist on other chromosomes in addition to chromosome 21. If this is so, how are we to interpret increased expression by gene dosage, that is, to 150 of what one sees in a person with two chromosome 21s, in a person with Down syndrome If the gene in question is unique in function, then we can truly expect that 150 of that gene's product may have significance. However, what if there are genes with similar or identical function on, for example, three other chromosomes Then, in typical people, there will be eight total copies of these genes, whereas a person with Down syndrome will have nine copies, and the difference in functional expression will be much less than 50 . Solving this problem...

Genenutrient Interactions In The Maternal Risk Of Down Syndrome Link To Abnormal Folate Metabolism

Multifactorial gene-environment interactions that compromise maternal folate status may promote chromosomal meiotic nondisjunction and risk of Down syndrome. The 677C T polymorphism of the MTHFR gene causes an alanine to valine substitution that decreases enzyme activity by 35 with the heterozygous (C T) genotype and 70 with the homozygous (T T) genotype (101). The reduction in enzyme activity associated with the MTHFR polymorphism raises the dietary requirement for folic acid to maintain normal remethylation of homocysteine to methionine (102). Consequently, inadequate folate intake in individuals with the MTHFR polymorphism could lead to an increase in homocysteine and a decrease in methionine levels (103). As shown in Fig. 1, chronic elevation in intracellular homocysteine can lead to a pathologic increase SAH that is associated with inhibition of the DNA methyltransferase and DNA hypomethylation (19,104). Based on this evidence, we proposed the possibility that gene-nutrient...

For Children with Down Syndrome1

The appropriate goal of physical therapy for children with Down syndrome is not to accelerate their rate of gross motor development as is commonly assumed. The goal is to minimize the development of abnormal compensatory movement patterns that children with Down syndrome are prone to develop. Early physical therapy makes a decisive difference in the long-term functional outcome of the child with Down syndrome. Beyond this goal, there is an additional opportunity that physical therapy makes available to parents. Because gross motor development is the first learning task that the child with Down syndrome encounters, it provides parents with the first opportunity to explore how their child learns. There is increasing evidence that children with Down syndrome have a unique learning style. Understanding how children with Down syndrome learn is crucial for parents who wish to facilitate the development of gross motor skills as well as facilitating success in other areas of life including...

Down Syndrome

Congenital heart defects occur in 40 to 60 percent of children with Down syndrome. Atrioventricular canal defects, ventricular septal defects, atrial septal defects, tetralogy of Fallot, and patent ductus arteriosus are all reported in this population. Pulmonary hypertension may develop in these children, associated with chronic upper airway obstruction and left-to-right shunts. Congestive heart failure has been described even in children without known heart lesions. Mitral valve prolapse and aortic regurgitation are described in adults but not in children. Recurrent upper respiratory infections, chronic sinusitis, and chronic middle ear effusions are seen in many young children with Down syndrome. These can be treated using standard protocols but should be referred to an otorhinolaryngologist or pulmonologist when they occur repeatedly. Sleep apnea and obstructive apnea are described but are not generally problems in the emergency setting.

Kathleen H McGinley PhD

When I began to write this chapter, I made a list of issues and resources that should be covered if there is to be more decent, safe, and affordable housing available so that people with Down syndrome and their families can make real choices about where they want to live. Then, of course, I realized that covering all these issues would take a book not a chapter. Therefore, my goal here is to give the reader as much basic information and guidance as possible about how to play the housing game and to provide a range of information sources that can help complete the picture. Down Syndrome, Edited by William I. Cohen, Lynn Nadel, and Myra E. Madnick. ISBN 0-471-41815-3 Copyright 2002 by Wiley-Liss, Inc. If the goal is to ensure that people with Down syndrome and other disabilities have the opportunity to live full lives in the community, then we need to stop and ask ourselves a few questions up front. There are many ways that people with Down syndrome and their families can work to change...

Clinical Implications of the DNA Sequence of Chromosome

The knowledge of the DNA sequence of chromosome 21 by itself will not have immediate clinical implications for people with Down syndrome. Its major effect is likely to be a marked enhancement of the rate of progress in understanding how the presence of an extra chromosome 21 leads to Down syndrome. The ability to screen all the genes on the chromosome for altered expression in Down syndrome and or in mouse models of Down syndrome will focus efforts on the genes most likely to be involved, namely, those with altered expression in affected tissues and cell types. Knowledge of the DNA sequence of all of the genes should allow much more rapid determination of what the functions of the proteins encoded by each gene are. Knowledge of the DNA sequence of chromosome 21 will greatly enhance our ability to produce important mouse models expressing genes most likely to lead to the phenotype of Down syndrome. The production of these models not only promises to help us understand the basic...

Siegfried M Pueschel MD PhD Jd Mph

One day, some 35 years ago, while I was working as Senior Resident in the Emergency Clinic of Montreal Children's Hospital, I admitted an eight-year-old girl with Down syndrome who complained of severe abdominal pain. The initial cursory physical examination revealed that she had an acute abdomen and was in severe distress. After a few essential laboratory tests, we immediately transported the patient to the operating room. The surgeons found a ruptured ovarian cyst with significant intra-abdominal bleeding. Fortunately, the girl recovered well. Postoperatively, we had more time to examine her thoroughly. We noted that not only did she have most of the characteristics of a person with Down syndrome, but she also had signs of hypothyroidism, verified by appropriate laboratory examinations, and precocious sexual development (Pueschel et al., 1966). The subsequent investigations of the interrelationship of Down syndrome, hypothyroidism, and sexual precocity led to my first publication on...

Dennis E McGuire PhD and Brian A Chicoine MD

At the turn of the twentieth century, a person with Down syndrome (DS) was expected to live only about 9 years. Today, life expectancy is about 56 years more than a sixfold increase (Eyman et al., 1991). As professionals and caregivers working with people with DS, we must do our best to ensure that this longer life is also a full and healthy one, both in terms of general health as well as emotional wellness and social functioning.

Mouse Models and the DNA Sequence

One of the most notable new advances in research about Down syndrome is the recent production and characterization of mouse models trisomic for significant regions of mouse chromosomes that are homologous to human chromosome 21 (Davisson and Costa, 1999). The genes on human chromosome 21 are found on three mouse chromosomes, 16, 17, and 10. So far, the order of genes in the mouse is the same as the order in the human. This conservation of chromosomal regions has led to attempts to produce mice trisomic for the parts of mouse chromosomes 16, 17, and 10 that are homologous to human chromosome 21. The first of these, trisomy 16 (Ts16) in the mouse, leads to lethality during embryogenesis or shortly after birth. Even so, during embryonic development, these mice show anatomic features that are reminiscent of what one observes in persons with Down syndrome (Lacey-Casem and Oster-Granite, 1994). To overcome the problem of early lethality, investigators have produced mice that are trisomic...

Understanding Self Determination

The new century offers the possibility of unparalleled opportunities for individuals with Down syndrome. It offers as well the hazard of rising skepticism concerning the value of individuals with cognitive and intellectual disabilities. Individuals with Down syndrome today are benefiting from so much that has been learned from the fields of medicine, education, and rehabilitation that it would not be too optimistic to predict further gains if structural reforms of the present human service system are implemented quickly and carefully. These reforms would place the authority for controlling individual budgets needed for support with the individual, family, and close allies. Information and data garnered to date from the self-determination movement demonstrate the cost-effectiveness of this approach and the improvements in quality. Down Syndrome, Edited by William I. Cohen, Lynn Nadel, and Myra E. Madnick. ISBN 0-471-41815-3 Copyright 2002 by Wiley-Liss, Inc. But the debate soon moved...

Sound Production Skills

The child with Down syndrome is ready to communicate well before he or she is able to speak. Some children have mastered all of the pragmatic and language prerequisites and are ready to use language to communicate 2-3 years before they are ready and able to use speech. Speech is the most complex communication system because it relies on muscle strength and coordination and accurate movement of the articulators. Transitional communication systems enable the child to communicate before he is able to use It is important that, whatever transition system is used, the language concepts taught are those that are meaningful for the child, that is, those messages that he really wants to communicate. The system must be functional for the child to get his needs met and make his wants known. In this way, the transition communication system greatly diminishes the frustration felt by a child who cannot communicate with his environment. Research has shown that using sign language helps the child's...

Vitamins and Nutritional Supplements

Beginning in the 1940s, Henry Turkel, a Michigan physician, developed a theory based on the belief that individuals with Down syndrome experienced deficiencies of a variety of essential metabolic elements (Turkel and Nusbaum, 1985). Dr. Turkel proposed supplementing or countering these deficiencies with partially individualized formulations of vitamins, minerals, and medications. Called the U-Series, this formulation became the basis for many subsequent variations and the subject of a number of studies of its effects from 1950 through 1980. Schmid's concept of the genetotrophic basis for the challenges resulting from genetic conditions and the orthomolecular theory of Linus Pauling provided additional theoretical frameworks for nutritional supplementation in Down syndrome (Schmid, 1978). In 1981, a study of institutionalized adults with mental retardation by Ruth Harrell reported significant improvements in cognitive abilities after the administration of a U-series-like...

Libby Kumin PhD Cccslp

Children and adolescents with Down syndrome are at high risk for speech and language difficulties based on anatomic, physiological, and cognitive factors (Kumin, 1994, 1999). There is a high incidence of speech and language problems, particularly in the areas of intelligibility of speech and conversational skills. Speech is an overlaid function on the same structures and movements used for the biological functions of respiration, self-regulation, and feeding. Speech is an output system, dependent on well-functioning sensory input systems such as hearing, vision, and touch. Even before the child is speaking, it is possible to work in early intervention on oral motor skills, sensory input and integration skills, and cognitive skills that provide the foundation for speech and language development. As the young child begins to process information from his environment, there are many techniques that can be used in treatment and at home to facilitate speech and language development. In the...

Patricia Logan Oelwein MEd

It is liberating to know that students with Down syndrome (DS) are generally very capable of becoming literate (defined as having the ability to construct meaning from symbols) and mathematicians (defined as those who make meaningful use of numbers). It is equally liberating to know that there are specific methods for teaching reading and math to children with Down syndrome specialized methods that take into consideration their learning differences and individual needs. Also, it is just as liberating to be free from measuring their success in reading and math by the standards and goals developed for children who do not have learning differences. It was the mother of Alex, a 16-year-old who has Down Syndrome, who expressed to me the freedom she felt after reading a chapter I wrote on individualizing reading for each child's abilities and needs and measuring reading success by the degree to which reading benefits the student (Oelwein, 1999). Her only regret was that she had not been...

Susan P Levine MA CSW

Everyone would agree that giving birth to a child with Down syndrome is a profound and life-changing experience. Although the struggles can be numerous (particularly struggles with schooling, adult services, and medical needs), many families feel that their child with special needs is truly a gift. However, a child with Down syndrome is born not only to parents but also to membership in the entire family. Brothers and sisters are an important part of the life of their sibling. How are they affected by growing up with a child who has Down syndrome in the family Is the experience for siblings as profound as it is for parents Is the overall experience viewed as a gift for them or as a struggle For the last 25 years, I have had the distinct privilege of running sibling groups and writing newsletters for brothers and sisters of children with Down syndrome and other disabilities who live in the central New Jersey area. These children have shared their thoughts and feelings with me,...

Disorders Associated with Aneuploidy

Three well-known autosomal chromosome disorders associated with trisomies of entire autosomes are sometimes found in live births. These are trisomy 21 (Down syndrome), trisomy 13, and trisomy 18. Growth retardation, mental retardation, and multiple congenital anomalies are associated with all three trisomies. However, each has distinctive morphological characteristics, which are presumably determined by the extra dosage of the specific genes on the additional chromosome. Down syndrome (chromosome 21) is the most frequent trisomy found in humans, and one of the most common conditions encountered in genetic counseling. General characteristics are mental retardation, distinctive palm prints, and a common facial appearance. The average life expectancy is now much greater thanks to improvements in medical care. Generally, individuals with Down syndrome have affable personalities and are able to be partially independent. The incidence of Down syndrome is about 1 in 800 children and is often...

Neurotransmitter Precursors

In the 1960s studies of neurochemistry in people with Down syndrome revealed diminished levels of the neurotransmitter serotonin. This prompted Bazelon to examine whether increased serotonin levels were associated with improved muscle tone (Bazelon et al., 1967). Bazelon's results prompted a series of carefully designed studies to determine whether the administration of metabolic precursors of serotonin would have any benefit.

Specific Nonconventional Therapies

An exhaustive review of nonconventional therapies for Down syndrome is beyond the scope of this chapter. Therapies of current interest and a few of historical interest are included. To provide a consistent approach to each therapy, the discussions are structured identically with five sections historical background, procedures used to implement the therapy, proposed rationale for the therapy, possible risks of the therapy, and a short review of any

Causes of Mental Retardation in DS

Mental retardation and abnormalities of the central and peripheral nervous systems (CNS and PNS) are features of individuals with DS that are noted from early development throughout adult life (Epstein, 1986). Unlike many of the other features of DS, which affect only a certain number of individuals, some degree of mental retardation is seen in all DS individuals. Furthermore, as discussed above, data from individuals with partial trisomy 21 suggest that the general quality of impaired mental function seen in DS

Chaperones and Human Disease

Chromosomal aberrations are abnormalities in the structure or number of chromosomes and are often responsible for genetic disorders. For more than a century, scientists have been fascinated by the study of human chromosomes. It was not until 1956, however, that it was determined that the actual diploid number of chromosomes in a human cell was forty-six (22 pairs of autosomes and two sex chromosomes make up the human genome). In 1959 two discoveries opened a new era of genetics. Jerome Lejeune, Marthe Gautier, and M. Raymond Turpin discovered the presence of an extra chromosome in Down syndrome patients. And C. E. Ford and his colleagues, P. A. Jacobs and J. A. Strong first observed sex chromosome anomalies in patients with sexual development disorders.

What Makes Interventions Conventional

Professional evaluation generally begins with anecdotal experience or empirical assumptions. In fact, the anecdotal experience of individuals, for example, parents of children with Down syndrome, may ignite the empirical impressions of professionals attempting to serve their needs. Such impressions become the ingredients of hypothetical statements. Hypotheses in turn define the experimental design that would lead to scientific evidence for the generalizability of individual experiences. More recently, qualitative and participatory research designs have allowed a stronger connection between the experience of the beneficiaries of research and the hypothetical assumptions and parameters of the research itself. Recently, the influence of the media and marketing on cultural acceptance has made advertising a powerful tool both for matters of public health policy and for improved profitability of some prescription drugs. Public health officials are making increasingly sophisticated use of...

Is There a Single Gene or Gene Cluster Responsible for the Features of DS

One significant conclusion is there is no single gene or gene cluster whose duplication is responsible for all DS features, because duplication of regions distinct from distal 21q22 is sufficient to produce many of what have been called typical DS features. This is illustrated in Figure 20.2 by three children with duplications for different regions of chromosome 21 all of whom, however, have developmental delay and hypotonia. We note that individual in the top panel in Figure 20.2 also has some of the facial features of persons with DS and has four copies of genes in the region indicated, which is entirely different and does not include any genes from the region that has been suggested as the Down syndrome critical region (Delabar et al., 1993). These additional regions expand the knowledge of the molecular-genetic basis of DS features and emphasize the necessity for the construction of detailed phenotypic maps and the need for further definition of measurable phenotypes, particularly...

Future of New Therapies

The current array of conventional and unconventional, mainstream and alternative therapies for children with Down syndrome will no doubt change and evolve as new information and knowledge is revealed. Some unconventional therapies may become mainstream while others become historical footnotes. Some new approaches may become integrated with other approaches while others remain on the fringe of standard interventions. Meanwhile, considerable research activity is targeted directly or indirectly at a better understanding of the challenges facing people with Down syndrome. The recent completion of the map of the human genome means that the 21st chromosome has been mapped. Some new therapies are likely to result from this amazing accomplishment. Simply stated, individuals with Down syndrome experience the results of an excess of 21st chromosome material. Their bodies produce and respond to the effects of an overdose of the proteins that are manufactured according to the genetic blueprints...

Free Radical Inhibitors Antioxidants

Beginning in the 1970s, theories that oxygen free radicals might be implicated as a cause for central nervous system injury in Down syndrome began to emerge in the context of similar beliefs about the cause of a number of degenerative diseases (de Haan, 1997). Further in vitro (test tube) laboratory studies of the neuronal tissue of Down syndrome fetuses raised additional concerns about possible free radical effects (Busciglio and Yankner, 1995). Procedure. Treatments involve the oral administration of supplementary or excess doses of antioxidant vitamins and other substances believed to have antioxidant effects. The oral administration of cofactors for the action of antioxidants such as the minerals zinc and selenium is frequently included. Antioxidants and their cofactors have been included in nutritional supplements advocated for people with Down syndrome such as Nutravene-D. Rationale. Oxidative processes in living cells produce oxygen free radicals, which in turn result...

Methodology The Great International Breakthrough

Language, the symbol system we use to communicate with, is necessary for the formation of thought. This symbol system is available via both auditory and visual stimuli. People with Down syndrome often have difficulty comprehending and processing verbal language verbal words exist for only an instant and cannot be retrieved. In addition, they often have difficulty using verbal language and find sign language (visual-motor symbol system) a powerful tool that better enables them to connect with others. But sign language is just the beginning of their liberation from being held prisoner by the differences in their brains. Just as a person who is blind is liberated by an education that is specialized to meet his her special needs, so is the person with Down syndrome. Reading, or comprehending meaning from written symbols, is a relative strength for most people with DS, and they can learn to read at least to the level that it is useful to them. And, if they are taught to use this reading to...

Background on NDSS Advocacy

NDSS public policy advocacy concentrates on 1) improving the lives of individuals with Down syndrome and their families through legislation, implementation of laws, and appropriations 2) promoting best practice based on solid research 3) encouraging public support for positive public policy through public relations efforts and 4) involving, building, training, and mobilizing an effective grass roots. Issues affecting both children and adults are addressed with an emphasis on positive, bipartisan advocacy that promotes collaboration among self-advocates, family members, professionals, and policy makers. The NDSS Affiliate Advisory Board is helping to build an effective grass roots that assists in identifying issues and responds quickly to action alerts through the advocacy E-mail list and posts on the website. Training for parents, self-advocates, and professionals is provided at national and regional conferences and through special projects such as the Institute for Special Education...

New Research Opportunities Offered by

Having the DNA sequence of human chromosome 21 promises to revolutionize research about Down syndrome. For example, in the past, many investigators had chosen particular genes on chromosome 21 for study because rational hypotheses could be made linking them potentially to one or more of the phenotypes seen in individuals with Down syndrome. This has been a fruitful line of research, and knowing all of the genes may enhance this effort, because there are now more genes to choose from (Chrast et al., 2000a Smith et al., 1997). However, for the first time, the DNA sequence of chromosome 21, as well as the complete human genome sequence, allows a more direct and comprehensive approach to understanding Down syndrome. It is now well within our experimental capability to assess directly where in the body and when during development every gene or presumed gene on chromosome 21 is active. This is most easily done in the mouse, considering that it is difficult or impossible to obtain the...

Essential Math In A Capsule

In my upcoming book, Teaching Math to Children with Down Syndrome, I explain how to teach children with DS essential math to meet their individual needs. For this chapter, I am providing you with the sequence that I recommend for teaching this essential math. Most children with Down syndrome have the ability to become literate mathematicians. However, most have learning differences that require specialized, systematic, and individualized instruction to reach this potential. Reading and arithmetic scores generally exceed their general ability score, classifying them, in my opinion as overachievers in these areas. Goals in reading and math should be based on the use of and the need for the skills needed to build competencies and independence. Parents and teachers should be liberated from grade-level measurements and be free to focus on developing competencies competencies for Citizens. Fowler AE, Boherty BJ, Boynton L (1995) The basis of reading skills in young adults with Down...

Evaluating New Therapies in a Family Context

Parents or guardians generally make therapeutic choices for children with Down syndrome. Mainstream or conventional therapeutic decisions usually involve consultation with a child's primary or specialist physicians or with therapists and educational professionals. Ideally, in the context of family-centered care, these decisions result from an exchange of information and a collaborative process between parents and professionals. When parents are considering an unconventional therapy for their child, the information-gathering process may be more challenging. Naturally, parents will have obtained information from advocates of the therapy including that obtained from direct consultation, conferences or workshops, or the Internet. Before making a decision about proceeding with a new therapy, consultation with trusted professionals or experts about Down syndrome should be sought regarding what is known about the therapy's risks and benefits. In addition, the opinions of other parents may be...

Section 8 Tenant Based Rental Assistance

Section 8 tenant-based rental assistance is an extremely effective tool to help people with mental retardation and other disabilities live integrated lives in their home communities. Although rules vary from PHA to PHA, Section 8 vouchers are portable, meaning they can be acquired in one community but used in another. Many people with Down syndrome and other disabilities are dependent on SSI benefits or have very low paying jobs. Therefore, as demonstrated earlier in this chapter, they are unable to afford a decent place to live unless they have a rent subsidy Section 8 is such a rent subsidy. The Section 8 program has existed since 1974 and, although it has helped hundreds of thousands of people with disabilities afford decent housing, it still remains an underutilized resource by people with disabilities. Medicaid is the major source of funding for services and supports for people with disabilities, yet it does not pay for housing. Great attention has been placed on redirecting...

Shaping a Vision for the Future

Given the dawning of a new century, the theme of a new vision for the twenty-first century seemed not only appropriate, but also necessary, for the NDSS annual conference in Washington, DC in the year 2000. The idea underpinning the conference was to involve a wide spectrum of stakeholders in an organized effort to shape a clear vision for the future. The challenge for conference organizers, then, was to develop an open and effective process for gathering broad input from the self-advocates, parents, other family members, affiliate leaders, and professionals about where we are now, where we need to go, and how we will get there. A variety of methods were utilized to involve participants in sharing their views about the most important priorities for achieving the goal of people with Down syndrome having the opportunity to live a full and productive life in the community. The results of this effort are helping the NDSS set priorities for research and public policy initiatives, plan...

Leslie Walker Hirsch MEd

It is a wonderful, exciting time for people with disabilities, their families, and the professionals who support them. Many medical advances, educational techniques, and cultural changes have arisen in the last few years. These changes support the hopes and dreams for a satisfying and happy life for individuals with Down syndrome (DS) and their families. People of all ages with DS can and do enjoy an array of relationships with family members, friends, acquaintances, community members, and even sweethearts and spouses. Social development education and sexuality education lay the groundwork for the relationship opportunities that enrich lives and for the choices that maintain personal safety.

Oooocoo

Supporting this observation, there are a number of other less well-known forms of progeria, including acrogeria, metageria, and acrometage-ria, as well as several dozen human clinical syndromes and diseases with features that have been considered to have progeroid aspects. The latter category includes Wiedemann-Rautenstrauch, Donohue's, Cockayne's, Klinefelter's, Seip's, Rothmund's, Bloom's, and Turner's syndromes, ataxia telangiectasia, cervical lipodysplasia, myotonic dystrophy, dyskeratosis congenita, and trisomy 21 (Down syndrome). In each of these cases, there are features that are genetic and that have been considered segmental forms of aging. In the most well-known of these, trisomy 21, the immune and central nervous systems both appear to senesce early, in contrast with Hutchinson-Gilford progeria, in which the opposite occurs. Bolstering the suggestion that this is a form of segmental progeria, trisomy 21 patients are prone to both infections and early onset of a form of...

Research

Since 1983 NDSS has funded more than one million dollars to advance knowledge about Down syndrome. Support for basic and applied research in areas such as sensory motor function, aging, health care, genetics, language, cognition, and behavior has included funding for specific research projects and scientific symposiums. The Charles J. Epstein Down Syndrome Research Award provides grants to postdoctoral investigators interested in basic or applied research in clinical care, molecular biology, neurobiology, genetics, developmental biology, and psychology. Since 1998 NDSS has provided 600,000 as part of a 3.9 million partnership with the National Institute of Child Health and Human Development and the National Institute of Neurological Disorders and Stroke of NIH to support research in cognition and behavior. The distinguished experts on the NDSS Scientific and Clinical Advisory Boards are directly involved in cutting edge research on Down syndrome, such as the sequencing of chromosome...

Len Leshin Md Faap

One of the hallmarks of Down syndrome (DS) is the variability in the way that the condition affects people with DS. With the third 21st chromosome existing in every cell, it is not surprising to find that every system in the body is affected in some way. However, not every child with DS has the same problems or associated conditions. Parents of children with DS should be aware of these possible conditions so they can be diagnosed and treated quickly and appropriately. Health Supervision for Children with Down Syndrome The DSMIG, a group of physicians and other health care professionals with a personal interest in this topic, has produced guidelines for physicians caring for people with DS. The 1999 version was printed in the Down Syndrome Quarterly (Sept. 1999 issue) and is reprinted elsewhere in this book. This is a useful item for parents as well, to ensure that the medical needs of their children continue to be met. (See Chapter 17, Healthcare Guidelines for Individuals with Down...

Sicca Cell Therapy

Sicca cell therapy was in use in Europe for cancer and for a variety of psychiatric disorders. In Germany in the 1970s, the use of sicca cell therapy was popularized for people with Down syndrome. The application continued into the early 1980s, when the national health insurance program in Germany discontinued coverage of sicca cell therapy because of concerns about its safety and effectiveness. Subsequently, a similar therapy using human fetal tissue was offered in Russia. The therapy has never been sanctioned in the United States, but American parents have taken children with Down syndrome to Germany and Russia to obtain sicca cell treatment. Procedure. Sicca cell treatments involve the injection of freeze-dried brain tissue from the fetuses of sheep, goats, or rabbits into young children with Down syndrome. The treatments generally start before age 3 and are repeated every 5 months. Rationale. Sicca cell advocates hypothesized that primordial tissue of fetal origin had the...

Feeding Skills

Feeding uses many of the same structures and movements that are used for speaking, although the neural substrates for feeding and speech are different. Feeding gives the child practice in muscle movement and coordination. Children with Down syndrome may have difficulty with feeding because of low muscle tone, inability to form a seal with the lips, difficulties with jaw or tongue control, and increased tactile sensitivity or tactile defensiveness (Kumin and Bahr, 1999). Speech-language pathologists or occupational therapists can work on feeding as part of the child's early intervention program.

Joseph F Wallace PhD

Assistive technology represents an area of increasing importance in the lives of individuals with developmental disabilities. Simply put, assistive technology includes any device, piece of equipment, or service that provides an opportunity for increased independence, academic inclusion, community integration, or employment or just makes life easier. Assistive technology can be something very simple, inexpensive yet practical, such as a wooden backscratcher that allows people with limited reach and hand strength to press an elevator button or drag something on a table top toward them without asking for help. Examples also include more high-tech solutions, for example, a voice output device that assists a person with severe speech difficulties in communicating with others. For persons with developmental disabilities, an assistive technology application might be computer software to assist in visual learning. It could also include traditional pocket organizers that provide memory...

William I Cohen MD

Author's Note The vagaries of book publishing are such that this chapter, which consists of the 1999 Revision of the Health Care Guidelines HCG for Individuals with Down Syndrome will be published close in time to the expected publication of the next revision of the HCG due in 2002. The Down Syndrome Medical Interest Group (DSMIG), which is responsible for the guidelines, anticipates only minor revisions of the guidelines. DSMIG is currently developing parallel guidelines for motor development, speech and language development, education, and behavior. Like the HCG themselves, they will be published in Down Syndrome Quarterly and likewise, they will be available on the World Wide Web at www.denison.edu dsq . This version of the Guidelines is significant because it coordinates closely with Health Supervision for Children with Down Syndrome published by the Committee on Genetics of the American Academy of Pediatrics 1 Health Care Guidelines for Individuals with Down Syndrome 1999...

Plastic Surgery

In 1977 plastic surgeons in Germany began reporting their experience with surgical procedures intended to normalize the facial features of Down syndrome (Lemperle and Radu, 1980). Surgeons in Israel and Australia also described similar approaches. More limited interventions have been the subject of study in Canada. Rationale. The dual aims of plastic surgery in children with Down syndrome are to improve function and to improve appearance and acceptance. Improved speech intelligibility, swallowing, and possibly respiratory function have been suggested as consequences of tongue reduction (Parsons et al., 1987). The set of multiple procedures advocated in Germany and Israel are intended to normalize facial appearance, thereby reducing stigmati-zation and enhancing social acceptance. On the premise that the features of the Down syndrome phenotype diminish the expectations of families, friends, and teachers, plastic surgery would promote higher achievement and more natural...

Clinical Features

Down syndrome is associated with a characteristic physical appearance, mental retardation, and specific birth defects or health conditions. The facial features, in addition to low muscle tone (called hypotonia), are often the first signs that alert a physician to a potential diagnosis of Down syndrome. These features include an up-slant of the outer corners of the eyes, small skin folds over the inner corners of the eyes, a small nose with a flat nasal bridge, a flat profile, and a large, grooved tongue that often protrudes from f individuals without Down syndrome who may have one or more of these features. It is only when the features occur together and the appropriate genetic test (chromosome studies) confirms clinical suspicion that a diagnosis of Down syndrome is made. All individuals with Down syndrome have mental retardation, usually mild to moderate. The degree of learning disability may not be immediately apparent, since social ability generally exceeds scholastic ability....

Bonnie Patterson MD

Behavioral studies from the 1960s, '70s, and '80s variously described children with Down syndrome as good tempered, affectionate, placid, cheerful, stubborn, sullen, withdrawn, and defiant (Pueschel et al., 1991). In 1972, Barron published a study looking at the temperament of individuals with Down syndrome and concluded that behavior in his study group was similar to the general population if mental age was taken into account (Pueschel et al., 1991). In recent years, it has become evident that the old stereotypes are incorrect and that children and adults with Down syndrome have the same range of temperament and behavior as the general population. Physicians and other professionals involved in the care of people with Down syndrome are often asked by parents and teachers for help in understanding the behavior difficulties that impact on the social and educational development of their children and can be disruptive in the home and the classroom. The definition of what a behavior...

Thomas J ONeill

When my son Joshua was born, he was not born in perfect condition. In fact, he was born in critical condition, close to death. Besides numerous health problems, he was also born with Down syndrome. I will forever remember the words and the feeling that permeated me when a neonatolo-gist, a doctor neither Rita nor I had ever met before, told us about our son's developmental issues. This man, this complete stranger, was kind, compassionate, and understanding but when he told us about Joshua probably having Down syndrome and his other health problems, it felt as though our world had just been pulled out from underneath us. The doctor also told us that Joshua would need to be transferred immediately to another hospital a facility that was medically equipped to care for him. When Joshua was about 18 months old, he and I were waiting for Rita in a local shopping center Joshua was in his stroller. A couple walked by and I heard the lady inform her companion that the child in the stroller was...

George T Capone MD

Autism and autistic spectrum disorders (ASD) are best defined as a neu-robehavioral symptom complex involving qualitative impairments in social interaction and communication and a restricted or stereotyped pattern of behavioral interests and activity (First, 1994). As a neurobehavioral symptom complex, autism is a classification based on observed behaviors and not etiology. For the purpose of this discussion ASD is meant to include infantile autism, pervasive developmental disorder (PDD), and late-onset autism (childhood disintegrative disorder). Approximately 75 of autistic persons also have mental retardation (Rapin, 1997), and cognitive level is significantly associated with the severity of autistic symptoms. The prevalence of ASD in persons with Down syndrome (DS) is estimated to be between 5 and 7 (Kent et al., 1999). An epidemiological survey of autism in association with rare diseases conducted in the state of Utah revealed that trisomy 21 was the most common rare disease...

Joan E Medlen RD LD

Our dreams for our children begin when we learn of their existence. When a child has Down syndrome, the dreams change a bit, but we still dream. We dream about happy, healthy, fulfilling lives for our child with Down syndrome, his or her siblings, and ourselves. As we begin to live out those dreams, it's the little things that matter most playing in the snow, cruising the pumpkin patch for the best pumpkin in town, riding a horse, being accomplished in a sport, learning to play the violin, and more. And yet, we are haunted by what Down syndrome means to our child's health over the course of his or her life. There are so many extra things to watch for, what if we miss one I remember my first images of our son's adult life as I held him in those early months. Although I had some experiences with children with multiple disabilities as a child, I knew little about Down syndrome. My thoughts were as limited as they come I saw him sitting on a bench waiting for the bus. In my vision he was...

Info

A., 46 DNA chips(microarrays), 252 DNA polymorphisms, 295 DNA sequences, 249-250 knowledge of, 255 mouse models and, 253-255 research opportunities offered by, 251-253 Down, John Langdon, 442 Down syndrome (DS), xi. See also People with Down syndrome advances relating to, 132 ASD and, 330-331 autistic disorder and, 328 autistic spectrum disorders and, 327-335 131-133 typical features of, 279 understanding, 251 unfounded fears of, 139-147 Down Syndrome Association of Greater Cincinnati, 110 Down Syndrome Clinic, 329-330 Down syndrome critical region, 279 Down Syndrome Medical Checklist, 232 Down Syndrome Medical Interest Group (DSMIG), 190, 237 physician guidelines from, 197-198 Down Syndrome Quarterly, 197-198, 237 Down Syndrome Visions for the 21st DSMIG. See Down Syndrome Medical Administration (ETA), 62-63 Employment services, 129 core, 31 effective, 40 Endocrinology, Down syndrome and, 194-196 Down syndrome and, 224-225 skills at, 410 Extreme...

Unfounded Fears

I'm not proud to admit that this was one of my biggest fears before Adam was born. Because I had months to imagine how he would look and behave before I ever actually saw him, I think my dread was more exaggerated than it would have been if I'd learned of his diagnosis after his birth. I was terrified of having a child who looked and acted (to use one of the most hated words in the Down's community) mongoloid. This primitive fear came from my early exposure to people with trisomy 21, which consisted largely of once-a-year Christmas caroling expeditions to a training school near my childhood home. The residents at this school had been institutionalized since birth, lumped together with others who had all manner of physical and intellectual disabilities, and left to the care of overworked, underpaid state employees who didn't understand their needs. My fear of Adam's visible differences began to fade from the time a geneticist assured me that kids with Down syndrome who are raised at...

Martha Beck PhD

Things will never be the same for you or your family, a grave-faced doctor told me one bleak winter day in 1988, just after my son Adam was diagnosed with Down syndrome. You're throwing your life away. I doubt he would have been so blunt if my baby had already been born, but Adam's diagnosis came through amniocentesis, three months before my due date. I'd decided not to end the pregnancy, and now my obstetrician was trying to change my mind. I knew he was motivated by a sincere desire to help, that he truly believed his dire predictions about my future were right. In a way, I guess, they were. It's true that things haven't been the same for me since Adam was born, and that when I refused a therapeutic abortion I threw away the life I'd always thought I would have. What I didn't know back in 1988 was that the life I was throwing away was far less interesting, fulfilling, and happy than the one I would get in return. Fourteen years ago, confronting my disapproving doctor, I shuddered to...

Chromosome Disorders

Chromosomal defects include such problems as Down syndrome, Kline-felter's syndrome, and Turner's syndrome. The majority of Down syndrome cases are due to an extra chromosome 21. Trisomy 21 usually occurs as an isolated event within a family. It results in characteristic facial features, lax muscle tone, cardiac and intestinal anomalies, and mild or moderate mental retardation. Additional medical complications may also include recurrent ear and respiratory tract infections, vision problems, hearing difficulties, and short stature. The average IQ of an individual with Down syndrome is 55. Most tests cite an IQ of 100 as average.

Auditory Skills

Children with Down syndrome are at increased risk for hearing loss. It is essential to have the pediatrician and the audiologist monitor hearing on a regular basis and treat any hearing problems (Cohen et al., 1999, Roizen et al., 1994, Shott, 2000). Some kinds of tests can be used to test infants within the first week of life. Otitis media with effusion (OME), inflammation of the middle ear with fluid buildup behind the eardrum, is the most common problem related to hearing. The fluid interferes with sound transmission, and the result is a conductive hearing loss that is fluctuating. It is difficult for infants and toddlers to learn to listen and to attend to sounds when they sometimes can hear the sounds and other times cannot (Roberts and Medley, 1995). Auditory Integration. Auditory integration is the ability to organize and interpret auditory stimuli including sounds, speech, and music. Some children with Down syndrome have difficulty with auditory integration...

Figure 146

Wishart (1991), a psychologist at the University of Edinburgh in Scotland, has done leading edge work in studying how children with Down syndrome learn. She writes Investigation into the learning style of children with Down syndrome is in its early stages. Kumin (2001) and Oelwein (1995) also have made important contributions in this area. In her book, Classroom Language Skills for Children with Down Syndrome A Guide for Parents and Teachers, Kumin discusses how the insights of Howard Gardner can be applied to children with Down syndrome. Gardner's book, Frames of Mind 1983, presents the theory of multiple intelligences, which postulates that intelligence is multi-faceted. The theory holds that besides linguistic and mathematical intelligences, there are also spatial, interpersonal and musical intelligences, to mention only a few. Kumin notes that it has been her experience that many children with Down syndrome learn well using music. She has also written about the unique learning...

Figure 145

If physical therapy has achieved the goal of minimizing the development of abnormal movement patterns, it will have influenced the health of the child with Down syndrome throughout the course of his or her life. But there is actually an opportunity beyond the development of motor skills of which parents may wish to take advantage while their child is receiving physical therapy. There is mounting evidence that children with Down syndrome do not learn in the same manner that typical children do. They have a different style of assimilating information, and, therefore, the usual methods of instruction are less effective. The development of gross motor skills is the first learning task that the child with Down syndrome and his parents will face together. There are many other challenges to come including language, education, and the development of social skills, but learning gross motor skills is the first

Maternal Conditions

Another maternal condition giving rise to birth defects is maternal phenylketonuria (PKU). This is an autosomal recessive disorder in which enzyme a protein that an enzyme called phenylalanine hydroxylase is defective. This enzyme normally converts a substance in the blood called phenylalanine to another substance called tyrosine. As a result, phenylalanine levels are high, resulting in mental retardation, microencephaly, growth retardation, cardiac problems, seizures, vomiting, and hyperactivity. Other traits associated with PKU are fair hair and skin and blue eyes. PKU can be effectively managed through changes in the diet, and women who have appropriately managed their diet can have pregnancies with healthy offspring. see also Chromosomal Aberrations Clinical Geneticist Complex Traits Diabetes Down Syndrome Fragile X Syndrome Genetic Counseling Growth Disorders Severe Combined Immune Deficiency Triplet Repeat Disease.

Selfadvocacy

8 The Gifts of Down Syndrome Some Thoughts for New Parent, 137 Martha Beck, Ph.D. 13 Pediatric Health Update on Down Syndrome, 187 14 The Goal and Opportunity of Physical Therapy for Children with Down Syndrome, 203 15 Behavioral Concerns in Persons with Down Syndrome, 215 16 Life Issues of Adolescents and Adults with Down Syndrome, 221 17 Health care Guidelines for Individuals with Down Syndrome 1999 Revision, 237 19 Nonconventional Therapies for Down Syndrome 20 The Genetic Origins of Cognition and Heart Disease in Down Syndrome, 275 21 The Origin and Etiology of Trisomy 21, 295 24 Down Syndrome and Autistic Spectrum Disorders, 327 29 Starting Out Speech and Language Intervention for Infants and Toddlers with Down Syndrome, 395 30 Maximizing Speech and Language in Children and Adolescents with Down Syndrome, 407

Achieving the Vision

A New State-of-the-Art Conference on Down Syndrome History. One of the goals of the Shaping a Vision for the Future effort was to set the stage for a new state-of-the-art conference on Down syndrome. The last such conference was held in April 1985 and was funded by a grant through the National Institute of Handicapped Research, now known as the National Institute on Disability and Rehabilitation Research (NIDRR). The conference brought together experts in the topics of biomedical research, education, psychosocial aspects, and community living. These experts joined individuals with Down syndrome and family members in addressing life span issues from different perspectives. Recommendations for paradigm shifts in the delivery of services and areas requiring research initiatives resulted from that conference. After the conference, the book New Perspectives in Down Syndrome was published in 1987 by Paul H. Brooks Publishing Co. This book is currently out of print. Changes Since l985. Great...

Education

Only 26 agreed or strongly agreed that schools provide systematic, phonics-based reading instruction with appropriate textbooks and curricular materials. Ninety-two percent agreed or strongly agreed that improved reading instruction should be a priority for research, staff training, and replication of best practice. Results indicate that both special and regular educators need training in how to integrate the National Institute of Child Health and Human Development (NICHD) research on effective reading instruction into their classroom instruction. Some students with disabilities need extended, systematic reading instruction throughout their school years. A new research initiative is needed to identify effective reading strategies for children with Down syndrome and other developmental disabilities. Inclusive Educational Placements. IDEA requires that students with disabilities be educated in the least restrictive environment (LRE) with supports and services....

Germinal Mosaicism

Although consistent with all known laboratory and clinical data, the actual genetic mechanisms that underlie Hutchinson-Gilford progeria are still uncertain and arguable (the gene for Werner's syndrome, however, has been cloned). The question of what causes progeria holds a fascination largely for what it may tell us about the course of aging itself. see also Aging and Life Span Alzheimer's Disease Disease, Genetics of DNA Repair Down Syndrome Inheritance Patterns Mosaicism Telomere.

Chris Burke

When I was at Don Guanella School in Springfield, Pennsylvania, my second ambition was to become a reporter. So, I worked on the school newspaper, writing articles each month. Once I even wrote to President Reagan, and he took the time to write back and encourage me and all the other students to work to reach our goals in life. We printed that letter in the paper, and everybody was thrilled. My English teacher helped me a lot and that prepared me, I think, for my job as editor of News & Views at the National Down Syndrome Society. It is a great job and I work with super people. Finally, the National Down Syndrome Society is very important to me so I would like to advocate and become a consultant for Education, Research, and Advocacy to show people it is not about our disability but our ABILITY.

Project

In May of 2000, the DNA sequence of the long arm of chromosome 21 and a catalog of the genes on the chromosome was published (Hattori et al., 2000). The length of this chromosome arm is 33,546,361 base pairs (bp) of DNA. Only about 100,000 base pairs, distributed in three small gaps, remained unsequenced. In addition, 281,116 bp of the short arm was sequenced. This was a seminal event in research about Down syndrome, because, for the first time, we had a reasonably complete list of all the genes on the chromosome. The number of known genes and gene predictions was 225. Of these 225 genes, 127 correspond to known genes and 98 represent novel genes. Since the publication of the sequence, analysis of its content continues, and the precise number of genes is changing as is the categorization of genes as more experimentation is carried out. One good source of information on the current status of the annotation of chromosome 21 is the Eleanor Roosevelt Institute Chromosome 21 website At the...

Recurrence Risk

Chromosomal aberrations may be inherited from a parent, and because of this many families seek genetic counseling in order to determine if a genetic disorder will recur in another member of the same generation or in generations that will follow. The family needs to know the genetic risk, also known as the recurrence risk, and any means by which transmission may be prevented. A recurrence risk will be calculated based on the accuracy of the diagnosis, the pedigree of the family, and the known genetic mechanisms of the disorder in question. see also Birth Defects Chromosome Banding Crossing Over Down Syndrome Meiosis Mutation Nondisjunction Prenatal Diagnosis.

Fair Housing

Hopefully, it is now obvious to the reader that much can be done to address the housing crisis facing people with disabilities, move public policy forward, and add to the housing resources available for them. It should be equally obvious that the only way positive change will be effected is if people with Down syndrome and their families educate themselves on housing issues and are at the table when housing decisions are being made at the local, state, and national levels. Although trying to navigate the world of housing may be initially frightening, activism by people with disabilities, their families, and advocates has and will continue to effect positive change and open new doors in communities.

Visual Skills

Reciprocal gaze is eye contact I look at you and you look at me. Because of low muscle tone and visual difficulties, it may be necessary to provide more support for the child's head and neck and to compensate for any visual problems. Children with Down syndrome are successful at learning reciprocal gaze. This skill is the basis for learning speech and language by observation and watching, as well as for eye contact in later conversation.

Abstracts

Barlow GM, Chen X-N, Lyons GE, Mjaatvedt C, Kurnit D, Spinner N, Zackai E, Pettenati MJ, Van Riper AJ, Vekemans M, Korenberg JR (2000) Down syndrome congenital heart disease Further delineation of the candidate region suggests components of the cardiac phenotype may be due to different candidate genes. Weinstein Cardiovascular Conference 2000, St. Louis, MO, June 2000. Barlow GM, Chen X-N, Korenberg JR (2000) Down syndrome cell adhesion molecule An endogenous promoter element drives the expression of a candidate gene for DS congenital heart disease in the developing mouse embryo. Weinstein Cardiovascular Conference 2000, St. Louis, MO, June 2000. Barlow GM, Chen X-N, Lyons GE, Korenberg JR (2000) Down syndrome cell adhesion molecule An endogenous promoter element drives the expression of a candidate gene for DS congenital heart disease in the developing mouse embryo. ASHG 50th Annual Meeting, Philadelphia, PA, October 2000. Barlow GM, Chen X-N, Lyons GE, Korenberg JR (2001)...

History

Was there a prenatal diagnosis of Down syndrome (DS) With vomiting or absence of stools, check for gastrointestinal tract blockage (duodenal web or atresia, or Hirschsprung disease) review feeding history to ensure adequate caloric intake. Any concerns about hearing or vision Inquire about family support.

The Vision

People with Down syndrome want to be accepted. They want to be included. They wish to be provided with choices and opportunities. People with Down syndrome have goals and dreams. They want their desires to be recognized and their needs to be met. They want to be heard and given the same respect as everyone else. They wish to speak for themselves and not let others speak for them. Individuals with Down syndrome are living, breathing, thinking, feeling people, and they want to be treated as such. Individuals with Down syndrome want the same quality of life as everyone else. These are just a few examples of some of the limitations placed on people with Down syndrome. The reasons for these include discrimination, stereotypes, prejudice, fear, and ignorance. These barriers, in combination with economics and inadequate social support systems, have an enormous impact on the ability of the visions for people with Down syndrome to be realized. We asked the National Down Syndrome Society's...

Identifying Visions

At the National Down Syndrome Society's 2000 National Conference in Washington, DC, the theme was Visions for the 21st Century. More than 500 conference attendees, consisting of parents and family members, teens and adults with Down syndrome, educators, physicians, speech, physical, and occupational therapists, psychologists, nurses, social workers, and other service providers, were encouraged to share their visions for the future for people with Down syndrome. Vision Surveys and Vision Cards were distributed, working groups in the areas of Education, Research, Advocacy and Self-Advocacy were held, and informal networking led to identifying a number of different visions.

Dreams

What would I like to do in the near future Well, to be with someone who really understands me and maybe one day become husband and wife. I would even like to keep up with my writing, art, and or acting, as well as being a speaker. And to top all that, to keep up with sports as well. Even though I am out of order, I would like to also be involved with my faith with the Church activities that I have mentioned earlier except for one, being an altar server. All in all, I would just like to be my normal self, even if I am a person with Down syndrome, but what is more difficult is also being a diabetic, which of course is more complicated I went to Young Life Club when I was in high school. I was the only one there with Down syndrome. Lots of girls that go to Young Life are cute. I got to know a lot of them. I got to date some of them. That is an extra bonus of being in Young Life, going out with cute girls. I have been on the leadership team for two years now. It has been so cool. I like...

The Reality

Life for individuals with Down syndrome in the United States is better than ever before. Today, people with Down syndrome have the legal right to be included in regular classroom settings with their nondisabled peers. Babies with Down syndrome have the right to early intervention, which will provide them with individualized services designed to help them develop to their fullest potential. Today, people with Down syndrome are receiving quality medical care much is understood about specific medical concerns of people with Down syndrome, leading to more effective screening and treatment. Today, people with Down syndrome are living on average until age 55 and beyond and people are integrating nutrition and wellness into their daily routines and taking more control over their own lives. Today, people with Down syndrome are living in their own homes or supported living arrangements and are leading more active and fulfilling lives through work and participation in community activities. Much...

Smell And Sexual Arousal

Alternatively odors could affect sexual arousal by inducing a state of risk taking or of generalized pleasure seeking, as in seeking food or other pleasure-oriented responses (72). Perhaps odors could inhibit associated cortical functioning, allowing a release of the id or the underlying limbic system functioning, thus manifesting more primitive responses (73). This release is seen in decorticate animals as in the Kluver-Bucy syndrome or in children with developmental cortical deficits, as in Down syndrome patients who become obese in response to their relatively uninhibited appetite. Similar responses are seen in individuals who became more tired, thus cortically suppressed, and hence more easily induced to sexual arousal or eating. Similarly, cortical suppression with alcohol leads to initially a lack of discrimination for sexual partners. Alternatively, this may be because of alcohol-induced inhibition of olfactory reception (74). This is seen in olfactory-deprived rats, which...

Gene targeting and chromosome abnormalities

One of the most common human malformation syndromes is Down's syndrome, trisomy 21. Little is known about the underlying developmental biology of the condition, and transgenic analysis of single genes have, perhaps unsurprisingly, not produced particularly informative models. Many investigators have turned to mouse models involving complete or partial trisomy of MMU16 (Galdzicki and Siarey, 2003), but this produces trisomy for genes not mapping to HSS21. Future dissection of trisomy 21 is likely to make use of engineered duplications, as described above, or the creation of freely segregating supernumerary chromosomes (Tomizuka et al., 1997). Chimeric mice derived from cells carrying a human chromosome 21 have been created, although chromosome segregation was unstable (Kazuki et al., 2001 Shinohara et al., 2001). Presence of the human chromosome was associated with

DNA Methylation and Disease

The most common form of inherited mental retardation after Down syndrome is the Frag-ile-X syndrome. The X-linked gene that is associated with the disease, Fragile-X mental retardation 1 (FMR1), contains highly polymorphic CGG repeats with an average length of 29 repeats in normal individuals and 200-600 repeats in Fragile-X patients. In addition, the CpG island at the 5' end of the gene in patients is abnormally methylated and histone deacetylated, causing silencing of the gene.111,1 2 The reasons for this de novo methylation and the mechanisms driving this de novo methylation are, as yet, unclear.

Chromosomal Aberrations and Transposons

Numerical chromosomal aberrations, the third category of mutations, are changes in the number of chromosomes. In some cases, the whole genome has been duplicated (called polyploidy) and the mutant has, for example, four of each chromosome (and is thus tetraploid) rather than the usual two (diploid, as in humans). These are much more common in the evolution of plants than animals. In other cases, only one or a few of the chromosomes are involved, which is referred to as aneuploidy. Down syndrome, in which a person has an extra chromosome 21, is an example of such a mutation. Aneuploidy may also involve the loss of a chromosome. The absence of one of the sex chromosomes, X or Y, is a mutation in humans that results in Turner's syndrome, in which there is only one X.

Settings and Practice Goals

There are a variety of different settings for genetic counseling, including reproductive, pediatric adult, and common disease clinics. Each one embodies a different set of aims. In the reproductive setting, the focus is primarily on decision making. Most often clients seen in a prenatal genetics clinic seek to understand their age-related risks for having a child with a chromosomal abnormality, such as Down syndrome. Increasingly they may also be seen in follow-up to an abnormal screening test that implicates higher chances for

Circulatory Nucleic Acids Role In Detecting Highrisk Pregnancies

Of circulatory fetal DNA are elevated early (second trimester) in those pregnancies that later develop pre-eclampsia.1-20'21-1 Unfortunately, these studies are too small to provide any indication of the possible predictive value. An examination of second-trimester fetal DNA levels has indicated a minimal increase in sensitivity for the detection of trisomy 21 fetuses when combined with the analysis of other serum analytes. The proposal that the analysis of circulatory fetal DNA could aid in the distinction between true and false preterm labor (i.e., those that do not respond to tocolytic treatment and still deliver prematurely, and those that respond and deliver at term) could, unfortunately, not be confirmed in a larger study.

Less Invasive Methods

Several years after the AFP test was developed for neural tube defects, researchers noted that low AFP correlates to an increased risk that a fetus will have an extra chromosome, particularly at positions 18 or 21. This condition is called a trisomy. Trisomy 21, an extra chromosome 21, is the most common cause of Down syndrome. Over the years, analysis of other substances have been added to refine this test, which is now offered routinely to pregnant women. Abnormal results on maternal serum screening tests indicate that amniocentesis should be done to diagnose a neural tube or chromosome defect, and that genetic counseling should be offered.

MSAFP and Multiple Marker Screening

While amniocentesis for Down syndrome is perhaps better known, the test which truly revolutionized prenatal diagnosis was maternal serum alpha fetoprotein (MSAFP) screening, which became the first screening test offered to all pregnant women solely for the purpose of discovering risk for a fetal anomaly. In the 1980's, researchers linked lower than normal levels of MSAFP to Down syndrome and other chromosomal abnormalities, thus expanding the utility of the test (Merkatz, Nitowsky, Macri, et al.). Early pilot projects demonstrating the feasibility of MSAFP testing increased enthusiasm for it as a prenatal screening test, and the screening became firmly established as standard of care in the United States when an American College of Obstetrics and Gynecology Legal Alert warned obstetrical providers that failure to offer the test might leave them open to liability in the case of a baby born with a detectable anomaly (ACOG, 1985). However, one concern about using MSAFP to detect Down...

Egg Donation Should There Be An Upper Age Limit

Is there an age when a woman becomes too old to become a mother It's well known that a woman's egg supply diminishes as she ages. Also, with advancing age comes an increased risk of genetic abnormalities, such as Down syndrome. For these reasons, most doctors recommend that the egg donor be young, preferably under age 35.

Cytogenetic Conditions

During the 20th century it became apparent to geneticists that chromosomes (the structures that package the genes) could be mutated independently of the genes themselves. Any cytogenetic condition, that is, a genetic disease caused solely by the rearrangement of whole or parts of chromosomes, came to be called a major chromosome anomaly (MCA). Among the better-known examples of MCAs are Down syndrome (trisomy 21), Turner syndrome (monosomy X), Klinefelter syndrome (XXY aneuploidy), and Cri-du-chat syndrome (5del) (see Table 1 of the entry Genetic Disease II). Chromosomal Mutations. These include changes in chromosomes that are either numerical (too many or too few chromosomes, causing aneuploidy) or structural (the translocation or repatterning of portions of chromosomes). A standard karyotype for each species, including humans, is used for comparison. Among the more common modes of chromosome mutations are deletions, fusions, dissociations (fissions), inversions, and translocations....

The Causes of Nondisjunction and Its Frequency in Humans

Nondisjunction is known to occur more frequently in the cells of older individuals. This is illustrated by the fact that older women are more likely to give birth to children affected by an aneuploid condition than are younger women. For instance, the risk of a twenty-year-old mother giving birth to a child with Down syndrome is about one in two thousand, compared to an approximate one in thirty risk in the case of a woman of age forty-five. The precise reason for this is not entirely certain, but a simple explanation could be that the older a cell is, the more loosely controlled are the processes occurring within that cell. This would mean that an older cell undergoing meiosis would be more likely than a younger one to ignore the constraints of the spindle checkpoint and hence give rise to aneuploid cells. SEE ALSO Chromosomal Aberrations Crossing Over Down Syndrome Meiosis.

Periodontal Pathology

Four distinctive types of periodontal disease have been identified. These include adult, rapidly progressing, juvenile, and prepubertal periodontitis. 10 Etiology, age and sex predilection, and clinical course of disease vary by type. A definite association between juvenile periodontitis and Actinobacillus actinomycetemcomitans exists. More severe and rapidly progressing periodontitis, especially those types affecting a younger population such as the prepubertal and juvenile periodontitis, appears to be associated with decreased neutrophil chemotaxis or phagocytosis. Systemic illnesses such as human immunodeficiency virus (HIV) infection, diabetes, lazy leukocyte syndrome, Down syndrome, and cyclic neutropenia are associated with severe periodontal disease. 1

Environmental And Genetic Factors That Determine The Bioavailability Of Folic Acid And Vitamin B12

Up by receptor pinocytosis mechanism, where it is subsequently stored in cells in the polyglutamated form by the activity of folyl-y-polyglutamate synthetase. The capacity of 5-methyltetrahydrofolate to donate its methyl group for the regeneration of methionine from homocysteine is dependent on the activity of methionine synthase. On the other hand, the activity of thymidylate synthase and methylene tetrahydrofolate reductase (MTHFR) determine the probability of 5,10-methylene tetrahydrofolate donating its methyl group for the conversion of dUMP to dTMP. All of the above indicates that genetic defects in one or more of the key enzymes and uptake proteins can limit the bioavailability of folate and vitamin B12. Therefore, it may be necessary for above RDA intake of these vitamins to overcome defects relating to the uptake or reduced activity of enzymes, as, in fact, has been shown in subjects defective in intrinsic factor or cobalamin reductase in the case of vitamin B12 and subjects...

Anthropology and the Study of Biomedical Technology

Similarly, Press and Browner's 1998 study of the use of pre-natal maternal alpha fetoprotein blood testing (used to predict Down syndrome and other anomalies) illustrates the complex and culturally embedded issues surrounding women's refusal or acceptance of the procedure. Many women accepted the test believing it to be a positive way to assure the health of their baby, much like taking vitamins or other elements of routine prenatal care. In actual practice the only way to avoid the birth of an affected fetus is termination of the pregnancy, but U.S. abortion politics preclude a full and open discussion of the issues, leading to severely truncated communication in the clinic and misapprehension of the usefulness of the prenatal blood test.

History Of Mental Retardation

Considerable understanding in the identification of clinical conditions associated with mental retardation was gained in the 1900s. Among the new disabilities that were identified and classified were von Recklinghausen's disease, Tay-Sachs disease, Sturge-Weber syndrome, and Down syndrome (mongoloidism). J. Langston Down made a significant contribution to the field by being the first to provide a separate classification and description of mongoloidism. He proposed that idiocy could be classified into three categories congenital (idiots), accidental (feeble-minded and idiots), and developmental (feeble-minded). In addition, the Association of Medical Officers of American Institutions for Idiotic and Feeble Minded Persons, a forerunner to the current American Association on Mental Retardation, was established.

Potential Future Applications

A number of infertility clinics have advocated the use of FISH analysis in clinical sperm samples from infertile patients. As mentioned above, infertile men certainly have an increased frequency of chromosome abnormalities in their sperm cells. Furthermore, studies have shown that specific men with an increased frequency of sperm chromosome abnormalities have fathered chromosomally abnormal pregnancies, for example, a man with a frequency of XY disomy 14 times higher than controls fathered a fetus with 47,XXY Klinefelter syndrome, 32 and men with an elevated frequency of disomy 21 sperm fathered children with Down syndrome (trisomy 21), shown to be paternally derived. 14 In addition, a number of studies have demonstrated that men with macrocephalic sperm have a very high frequency of sperm aneuploidy and diploidy. 33,34 Thus the addition of FISH analysis of sperm cells might be a useful investigation in male factor infertility, especially in cases known to have a high risk of...

Array construction and application of genomic microarrays

Array CGH is also proving valuable in the more detailed analysis of genomic regions contributing to cytogenetically defined syndromes. We have used array CGH to study a patient with a chromosome 21-derived marker chromosome who displayed some features similar to Down syndrome. Down syndrome is usually caused by trisomy of chromosome 21 and is characterized by, for example, cognitive impairment, hypotonia and specific phenotypic features such as flat faces and ridge formation on hands and feet. The Down syndrome critical region, which is thought to be responsible for the physical phenotype of the patients, has been mapped to 21q22.1-21q22.3. However, it is not clear whether other regions on chromosome 21 contribute to the complex phenotype of Down syndrome. The patient with the chromosome 21-derived marker chromosome did not show any of the characteristic dysmorphic features of Down syndrome, but presented with learning disability and cognitive defects typical of Down syndrome. The...

Cognitive Abilities and Intelligence

Much is known about the genetics of mental retardation and learning disabilities. The most common single causes of severe general learning disabilities are chromosomal anomalies (having too many or too few copies of one of the many genes that occur together on a chromosome). These genes may reside on additional chromosomes, for example trisomy 21 (an extra chromosome 21, or three instead of the normal two) is the cause of Down's syndrome, and the fragile X condition may by itself account for most, if not all, of the excess of males among people with severe learning disabilities (Plomin, DeFries, et al., 2001). A large number of rare single-gene mutations, many of them recessive, induce metabolic abnormalities that severely affect nervous system function and thus lead to mental retardation. Because the specific alleles involved are individually rare and recessive, such metabolic abnormalities can cause learning-disabled individuals to appear sporadically in otherwise unaffected...

Stages of the Illness

In the presymptomatic stage, there is an insidious pathological process in the brain, but there are no mental or behavioral symptoms, no impairment of everyday functioning, and no abnormalities on neuropsychological testing, even using tests sensitive to subtle decrements in performance. When baseline neuropsychological test data are available, results at the time of clinical evaluation would show no significant changes from the baseline. The existence of such a stage is supported by pathology series showing characteristic AD lesions in the absence of any observable or measurable clinical deficits on an antemortem evaluation (83-88,105-106). The notion of a presymptomatic stage is further bolstered by evidence of such a period in patients with Down syndrome who, in middle age, invariably develop a clinical dementia marked by AD pathology at autopsy (107-109). In this presymptomatic stage, some biological markers may be positive, permitting identification of candidates for intervention...

Possible Order of Events in the Alzheimer Pathogenic Pathway

A clue about early steps in the pathogenic pathway has been provided by studies of brains of people with Down syndrome. (The cells of people with Down syndrome carry an extra chromosome 21, which most often is the result of meiotic nondisjunction.) Almost all persons with Down syndrome develop brain pathology resembling that in AD and frequently dementia resembling AD by age 40-50 (166,228). Trisomy 21 is known to be associated with excessive production of (which is derived from APP encoded on chromosome 21) and with an inflammatory reaction in the brain accompanied by the high expression of interleukin-1 (IL-1) and astroglial activation. These features also are characteristic of the Alzheimer brain (121,122). Genetic and biochemical studies of the Alzheimer and Down syndrome brain, the APP, a1-antichymotrypsin (ACT) and ApoE genes and proteins, and of factors initiating the polymerization of peptide into amyloid filaments, have suggested that one of the earliest steps in this pathway...

Mechanisms of Functional Tumor Suppressor Loss

Constitutional chromosomal aberrations, which include deletions and aneuploidy, are sometimes associated with an increase in specific kinds of cancers. For example, a deletion on chromosome 13 band q14.1 is associated with retinoblastoma. Trisomy 21 in individuals with Down syndrome is associated with a 1 percent occurrence of leukemia.

Developmental Disability Mental Retardation

Mental retardation is a substantial limitation in present functioning associated with subaverage intellectual capabilities and limitations in two or more adaptive skill areas (communication, self-care, home living, social skills, community use, self-direction, health and safety, functional academics, leisure, and work). It is a result of injury, disease, metabolic disorder, or other abnormality of the central nervous system occurring before the age of 18. Mental retardation occurs in 2.5 percent of the population. Etiology is known for certain syndromes associated with mental retardation, but the majority of individuals with mental retardation have no clearly identified etiology. Down syndrome, fetal alcohol syndrome, and fragile X syndrome are the most common known etiologies of mental retardation. Children with mental retardation have a wide variety of associated medical problems. With increasing severity of mental retardation, there is increased incidence of associated problems....

Institutional Ethics Committees

In the 1976 QQuinlan case, in which parents won the authority to remove a ventilator from an incompetent adult child, the New Jersey Supreme Court recommended that hospitals establish ethics committees to confirm prognoses in cases involving withdrawal of life support. The 1982 Baby Doe ruling that allowed parents to withhold a life-saving operation from an infant with Down syndrome led to the establishment of infant-care review committees in cases of withholding or withdrawing life support from disabled newborns. In 1983, a report from the U.S. President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research encouraged the formation of hospital ethics committees to review cases that raised ethical dilemmas and to resolve ethical conflict.

Fatal versus Nonfatal Conditions

It is obvious from this reasoning that a small change is more likely to be tolerated (albeit at a cost) than a large one. Down syndrome is caused by trisomy of chromosome 21, which is one of the smallest human chromosomes (containing a relatively small number of genes). This provides an explanation as to why this condition is not fatal, while a trisomy involving another, larger autosome would most likely be fatal.