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...

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...

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...

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...

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...

Libby Kumin PhD Cccslp

Infants with Down syndrome are ready to communicate, but they can't use speech yet. So they communicate first by crying, then by smiling and laughing. It's a long journey from crying to speaking, and there are many milestones and many skills to be mastered. Although some early intervention programs include speech and language services, many early intervention programs do not provide speech and language services until a specific age (1, 2, or 3 years) or until the child is speaking. There are...

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....

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...

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...

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...

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...

What Makes Interventions Conventional

Conventional therapies, treatments, and interventions have survived a complex interplay of professional evaluation and cultural acceptance against a background of political and economic factors. The strongest scientific evidence may be insufficient to overcome strongly held cultural beliefs or powerful economic factors. Professional evaluation generally begins with anecdotal experience or empirical assumptions. In fact, the anecdotal experience of individuals, for example, parents of children...

Selfadvocacy

John Peter Illarramendi, Jeffery Mattson, and Mia Peterson 5 Follow Your Dreams, 113 Chris Burke 7 A Vision for the Twenty-First Century A Blueprint for Change, 119 8 The Gifts of Down Syndrome Some Thoughts for New Parent, 137 Martha Beck, Ph.D. Siegfried M. Pueschel, M.D, Ph.D., J.D., M.P.H. 10 Being A Dad As I Know It, 155 Thomas J. O'Neill 11 The Sibling Relationship Attending to the Needs of the Other Children in the Family, 163 12 The Special Needs Program Estate Planning for Families...

Individual School Support

Positive behavioral supports involve several steps at the individual level assessment, development of support team, interventions and ongoing adjustment evaluation. iNTERVENTIoN. Individual intervention begins with three levels of assessment behavioral, personal, and environmental factors. Each of these factors should be addressed within a functional behavioral assessment (FBA). The FBA is a critical component of the PBS approach. At a minimum, an FBA involves interviews with people familiar...

Early Intervention Services Part C of the IDEA

Part C, formerly Part H, was added to IDEA in 1986 to expand access to early intervention family services for children with disabilities from birth to 3 years of age. Children 3 and older are served under Part B of IDEA. Part C was designed to provide coordinated service delivery to infants, toddlers, and their families and to fill gaps in existing services as needed. Services available to children under Part C as early intervention services are varied and include, among others, special...

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,...

Preventive Measures

We recommend that all adults with DS receive appropriate immunizations. A diphtheria-tetanus booster every 10 years is advised. People over 65 and those with certain chronic illnesses should get a flu shot each year, as well as a one-time pneumonia vaccine. Some researchers suggest that adults with DS be given flu and pneumonia vaccines in their fifties because of their relatively weaker immune systems. Additionally, all people living in residential facilities and those with a high potential of...

Unfounded Fears

Fear 1 My child would be repugnant to me and 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...

Celiac Disease

The recommended test for screening for celiac disease will be tissue transglutaminase antibody along with total IgA level. Tissue transglutaminase will detect 95-100 of cases of celiac disease, and this replaces the IgA anti-endomysial antibody. The next revision will clarify the frequency of retesting individuals who are negative at the time of the first screen. Note that the diagnosis of celiac disease is made only on the basis of an intestinal biopsy. Dietary changes should not be made until...

Patricia Logan Oelwein MEd

Author's Note The methodology is based on methods developed in the Down Syndrome Programs, University of Washington, 1971-87. 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...

Info

See also Grants and contracts Conventional therapies, 261-262 Cooley, W. Carl, 259 Cooperative learning, 351 Cosmetic surgery, 197 Cost-to-society considerations, 4 Co-teaching model, 350 Councils on Developmental Disabilities program, state, 58-59 Count and state quantity skills, 431 Cre recombinase-based technology, 254 Creative purchases, 6 Credentialing, 13 Croup, recurrent, 193 CRPs. See Community-based rehabilitation programs (CRPs) Cultural acceptance of therapies,...

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...

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...

The Genetic Origin of Congenital Heart Disease in Down Syndrome

Heart disease and defects of the cardiovascular system are responsible for the majority of premature deaths caused by congenital defects (Clark, 1987). Congenital heart disease (CHD) is particularly common in individuals with DS. It is detectable in 40-60 of individuals with DS and at autopsy in almost 70 of DS individuals. The schematic view of heart development shown in Figure 20.7 illustrates many of the regulatory molecules that play FIGURE 20.6. The chromosome 21 gene DSCAM is highly...

Sound Production Skills

The first sound that the infant makes is usually a crying sound. As the child develops, he will begin to make a wider array of sounds. Laughing, grunting, cooing, popping, screeching, and raspberry sounds are early sound productions. When the child begins to produce strings of sounds, for example, babababa, mamamama, this is known as babbling. In early babbling the child appears to like the feel of the sounds, whereas in later babbling the child begins to narrow her sound production to the...

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...

Thomas J ONeill

For 31 years before I became a dad, I was a son. It was the lessons learned as a son that have heavily influenced me as I travel the journey as a dad. This journey began on August 31, 1978. My first son, Joshua, was born that day at 12 25 in the afternoon. According to my wife Rita's obstetrician, Joshua was due to arrive on August 10th. That day, along with twenty subsequent days, came and went without any signs of labor. Finally, in the mid-evening hours of August 30th, Rita said that labor...

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. The enormous gains made in the last third of the twentieth century in education, employment, and community living for these individuals can be further broadened. For this to occur, society must change the terms and rationale for obtaining necessary supports to...

Lab and Consults

Thyroid function testing (TSH) yearly. Hearing and vision evaluations every year. Repeat screening cervical spine X rays as needed for Special Olympic participation. Echocardiogram if evidence of valvular disease on clinical exam. Consult with adolescent medicine practitioner or a gynecologist experienced in working with individuals with developmental disabilities to address issues of sexuality and or for pelvic examination for sexually active teenager. Continue twice-yearly dental exams.

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...

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...

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. Procedure. Multiple procedures have been described including augmentation of chin and cheeks with Teflon implants, correction of epicanthal folds and upward obliquity of the...

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,...

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...

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...

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. In this chapter, we will share with you what we have learned from...

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...

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. With all the different...

References

Bandura A 1971 Social Learning Theory. New York General Learning Press. Beck AT 1976 Cognitive Therapy and Emotional Disorders. New York International Universities Press. Brattstrom L, England E, Bun A 1987 Does Down syndrome support homocysteine theory of arthersosclerosis Lancet 1 391-397. Brown MC, Hanley, AT, Nemeth C, Epple W, Bird D, Bontempo T 1986 The developmental disability profile. New York State Office of Mental Retardation and Developmental Disabilities. Chicoine B, McGuire D 1996...

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...