International Review of Research in Mental Retardation (eBook)

Health Issues Among Persons with Down Syndrome

Richard C. Urbano (Herausgeber)

eBook Download: EPUB

2010 | 1. Auflage
380 Seiten
Elsevier Science (Verlag)
978-0-08-092268-3 (ISBN)

Infos

Volume 39 of the series International Review of Research in Mental Retardation offers an ongoing scholarly look at health issues in Down syndrome.

*Provides the most recent scholarly research in the study of Health Issues in Down Syndrome *A vast range of perspectives is offered, and many topics are covered *An excellent resource for academic researchers

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International Review of Research in Developmental Disabilities is an ongoing scholarly look at research into the causes, effects, classification systems, syndromes, etc. of mental retardation. This thematic volume, "e;Health Issues in Down Syndrome,"e; will cover health issues for individuals across the life span. With the life expectancy of individuals now reaching 60 years or more, it has transformed from an acute condition with a short life span to a chronic condition that needs to be managed over a close to normal life span. The extra chromosome 21 that defines most cases of Down syndrome affects the functioning of many biological processes and organ systems. The cascade of events triggered by the extra chromosome 21 creates a complex set of medical conditions needing to managed over the life span. The ability to manage these conditions has led to an improvement in longevity and quality of life for individuals with Down syndrome. - Provides the most recent scholarly research in the study of health issues in Down syndrome- A vast range of perspectives is offered, and many topics are covered- An excellent resource for academic researchers

Inhalt

Cover 
1 
International Review of Research in Mental Retardation 2
Copyright 5
Contents 6
Contributors 10
Reviewers 14
Preface 16
Series Preface 22
Glossary of Terms 24
Section I. Introduction 40
1. Overview of Health Issues among Persons with Down Syndrome 42
1. Introduction 43
2. Endocrine, Metabolic, and Immune System Disorders 43
3. Cardiovascular and Gastrointestinal Disorders 48
4. Sensory Systems 51
5. Hearing 52
6. Cancer 53
7. Motor/Skeletal System 55
8. Other Systems and Problems 58
9. Obstructive Sleep Apnea and Pulmonary Problems 61
10. Dermatology Problems 62
11. Summary 62
References 66
Section II. Health Over The Life Span 74
2. Health Outcomes of Infants and Toddlers withDown Syndrome 76
1. Introduction 77
2. Benefits of Examining Health Issues Using Large-Scale Databases 78
3. State of the Art Concerning Health Information on Young Childrenwith Down Syndrome 81
4. Adverse Birth Outcomes among Newborns with Down Syndrome 82
5. Early Hospitalization 83
6. Early Mortality 93
7. Remaining Issues 96
8. Conclusion 101
Acknowledgments 102
References 102
3. Overview of Health Issues in School-aged Children withDown Syndrome 106
1. Introduction 107
2. Methods 113
3. Results 117
4. Discussion 133
5. Conclusion 136
References 136
4. Health Conditions Associated with Aging and End of Lifeof Adults with Down Syndrome 146
1. Skin and Hair Changes 147
2. Menopause 148
3. Vision Impairments 149
4. Hearing Impairments 150
5. Seizure Disorder 151
6. Thyroid Dysfunction 152
7. Other Medical Conditions 153
8. Mortality 155
9. Medical Conditions with Low Risk 157
10. Health Care 158
11. Conclusions 158
Acknowledgments 159
References 159
Section III. Systems and Diseases in DS 166
5. Cancer among Persons with Down Syndrome 168
1. Introduction 169
2. Leukemia in DS 170
3. Solid Tumors in DS 190
4. Mechanistic Hypotheses 193
5. Outlook 194
References 194
6. Cardiovascular Disorders among Persons with Down Syndrome 204
1. The Unborn Child with Down Syndro 205
2. Cardiovascular Disorders in Childhood 208
3. Cardiovascular Disorders in Adulthood 217
4. Genetics in Congenital Heart Disease in Down Syndrome 220
5. Comment 226
Acknowledgments 226
References 227
7. Hearing Loss among Persons with Down Syndrome 234
1. Introduction 235
2. Structure and Function of the Auditory System 236
3. Assessment of Auditory Ability 247
4. Hearing Technology 253
5. Conclusion 256
References 257
8. Dementia among Persons with Down Syndrome 260
1. Introduction 261
2. Prevalence of Dementia among People Who Have Down Syndrome 262
3. Neuropathology 264
4. Risk Factors for Dementia among People Who HaveDown Syndrome 265
5. Diagnosing Dementia in Intellectual Disability 267
6. Clinical Features of Dementia 268
7. Differential Diagnosis of Dementia among People Who HaveDown Syndrome 273
8. Diagnostic or Screening Instruments 274
9. Observer-Rated Scales 274
10. Neuropsychological Tests 278
11. Diagnostic Crit 280
12. Practical Diagnosi 281
13. Challenging Behavior 282
14. Treatment 283
15. Service Needs 286
16. Conclusion 287
Acknowledgement 288
References 288
9. Sociodemographic Characteristics of Families of Childrenwith Down Syndrome and the Economic Impacts of ChildDisability on Families 296
1. Introduction 297
2. Epidemiologic Studies on Down Syndrome 300
3. Economic Impacts of Child Disability on Families 307
4. Conclusions 325
Acknowledgments 327
References 327
Section IV. Other Issues 334
10. Health Research, the Needs of Persons with Down Syndromeand Their Families 336
1. Health Research, the Needs of Individuals with Down Syndromeand Their Families 337
2. The Contribution of Medicine 337
3. Some Cautions 338
4. The Responsibilities of Researchers 340
5. Exploring Health Patterns 341
6. Individual Differences 342
7. Important Progress 343
8. In Conclusion 344
Resources 345
Afterword 346
Index 350
Contents of Previous Volumes 366

Textauszug

Preface

Richard C. Urbano

In 1866, J. Langdon Down published the results of his careful observations of the characteristics of a group of patients at his institution, providing us with the first description of Down syndrome. However, it was not until 1957 that Lejune identified the underlying genetic mechanism responsible for Down syndrome. Using the latest technological advances, Lejune demonstrated that an extra copy of chromosome 21 existed in these individuals. Today we know that the extra copy of chromosome 21 (trisomy 21) accounts for 95% of all cases of Down syndrome.

Over the last 144 years, we have learned much about Down syndrome’s impact on biological systems and its manifestations in intellectual, physical, and social development. Only within the last half century, however, significant progress has been made in improving the length of life of individuals with Down syndrome. With this phenomenal improvement in life expectancy, to around 60 years from the latest estimates, Down syndrome has been transformed from an acute condition with early death to a chronic condition with near-normal life span. As a consequence, management of the syndrome’s major health issues has become a significant concern.

In addition to increased life expectancy, how we treat individuals with Down syndrome has changed. Today parents are no longer advised to place their child with Down syndrome in an institution “before they become attached to them.” In fact, most children with Down syndrome live at home and participate fully in family life. When they enter the school system, they can be successfully integrated into the general education program. In addition, options now exist for aggressive early intervention to foster development in cognition, speech and language, and physical and social skills. Starting well before 3 years, interventions can be started to correct cardiac anomalies and to lessen speech, language, and motoric delays. Further, widespread infant hearing screening makes it possible to intervene with hearing loss and reduce its impact on speech and language.

Despite progress in understanding and treating health conditions associated with Down syndrome, much is left to learn. As the chapters in this volume illustrate, we often possess the big picture on health conditions, but the details are often missing. For example, it is well understood that individuals with Down syndrome are at risk of developing leukemia early in life (see Chapter 6). At the same time, however, we do not understood how identifiable characteristics of early leukemia are risk factors for or predictors of that condition’s life course.

The authors in this volume provide an in-depth view of the conditions that affect individuals with Down syndrome and their families.

In Chapter 1 Nancy Roizen begins our in-depth coverage of the major health conditions affecting individuals with Down syndrome. She sets our concern with the health of individuals with Down syndrome in context when she says, “To enable children and adults with Down syndrome to be healthy and able to function well and live life fully, we need to be knowledgeable about the plethora of medical problems that are possible.” She goes on to cover the medical problems and organ system anomalies potentially affecting individuals with Down syndrome: endocrine/metabolic/ immune system disorders, cardiovascular disorders, gastrointestinal disorders, vision and hearing problems, cancer, motor/skeletal system disorders, neurological disorders, renal and urologic diseases, and obstructive sleep apnea and pulmonary problems. She emphasizes that individuals with Down syndrome are living longer, healthier lives and that Down syndrome should now be considered a chronic condition to be managed over the life span.

The next three chapters focus on the health outcomes most prominent in three distinct periods of life: infants and toddlers (Chapter 2), schoolaged children (Chapter 3), adult and end of life (Chapter 4).

In Chapter 2, Robert Hodapp, Nancy Miodrag, Samantha Goldman, and I present the challenges facing individuals with Down syndrome from birth through early childhood. Although significant progress has been made in identifying and treating the health conditions affecting young children with Down syndrome, challenges still remain. The findings from largescale population-based studies show that the prevalence of adverse birth outcomes, in-patient hospitalizations, and infant mortality are significantly higher for young children with Down syndrome. Hodapp et al. conclude their chapter by identify four areas needing additional emphasis in order to achieve better heath in young children with Down syndrome: (1) the interaction effects of health with such contextual factors as family characteristics, amount and quality of health services, and residential environment; (2) increased breadth and depth of population-level data; (3) freely available, flexible, and easy-to-use record linkage software; and (4) improved anticipatory guidance for parents and providers.

Progressing along the life span, Helen Leonard and her colleagues next cover health issues for school-aged children with Down syndrome. Many children in this age group have additional birth defects and health-related problems. They are at increased risk of cardiac, respiratory, gastrointestinal, ophthalmologic, ear and hearing, musculoskeletal, leukemia, thyroid, immune system, and dental problems. Repeating a theme from almost every chapter, Leonard et al. lament that there are so few studies of health issues in Down syndrome.

Anna Esbensen rounds out the series of age-related chapters with coverage of adult and aging issues. The increased life expectancy for individuals with Down syndrome has made it possible to study medical conditions common among adults, to show changes with age, and to examine the relationship of these conditions to mortality. In Chapter 4, Anna Esbensen reports that adults with Down syndrome are at increased risk of skin and hair changes, early onset menopause, visual and hearing impairments, adult-onset seizure disorder, thyroid dysfunction, diabetes, obesity, sleep apnea, and musculoskeletal problems. Care providers and families need to be on the alert beginning in early adulthood for changes in these agerelated conditions, as they occur earlier in individuals with Down syndrome.

Thus far, the emphasis has been on age-related changes in health conditions. In the next five chapters, the focus switches to specific conditions that affect a large proportion of individuals with Down syndrome and their families: cancer (Chapter 5), cardiovascular disorders (Chapter 6), hearing loss (Chapter 7), dementia (Chapter 8), and sociodemographic and economic factors (Chapter 9).

While the overall incidence of cancer in children and adults with Down syndrome appears to be the same as that in the general population, the distribution of tumor types is markedly different. In Chapter 5, Johann Hitzler presents the current state of knowledge on tumors in children and adults with Down syndrome. He notes that leukemia is the most common childhood cancer in Down syndrome, with an incidence 10–20 times greater than in the general population. By contrast, solid tumors are markedly less frequent among these children and adults. Leukemia in children with Down syndrome is usually transient and does not convert into acute myeloid or acute lymphoblastic leukemia. However, 20% of the cases with transient childhood leukemia do convert to acute myeloid leukemia (AML) later in life. Finally, he reviews the intriguing evidence that two genes, CRLF2 and JAK2, may be associated with acute lymphoblastic leukemia (ALL) in Down syndrome.

At birth, almost half of the children with Down syndrome have some type of cardiac anomaly. In Chapter 6, Barbara Mulder and Jeroen Vis provide a comprehensive description of the anatomy of the heart, emphasizing the anatomical anomalies observed in Down syndrome. They review prenatal screening, intrauterine interventions, and the management of congenital heart defects in early childhood. They also cover pulmonary arterial hypertension and cardiac surgery during adulthood.

Another serious condition affecting half of the individuals with Down syndrome is hearing loss. In Chapter 7, Heather Porter and Anne Marie Tharpe describe the structure of the auditory system and the features specific to Down syndrome. They describe the methods available for diagnosing hearing loss and interventions available to compensate for that loss. For both diagnosis and intervention, they describe the challenges presented when working with individuals with Down syndrome. Management of hearing loss for individuals with Down syndrome is critical to helping them maximize their communicative and cognitive potential.

In the section’s final chapter, Shoumitro Deb and Ryan McHugh (Chapter 8) cover the single most important condition that has come to prominence from the increased lifespan of individuals with Down syndrome. Dementia, most notably Alzheimer’s disease, appears earlier in life for individuals with Down syndrome and at a more advanced stage when diagnosed. Deb and McHugh emphasize that early changes associated with adult-onset dementias are difficult to diagnose in individuals with Down syndrome. The tools available for diagnosis require a high degree of clinical skill, do not have established psychometric properties, or were not designed for individuals with intellectual and developmental disabilities. Even when these diagnostic tools can be used, baseline measures taken early in adulthood...

Produkt-Details

• Erscheint lt. Verlag: 14.10.2010
• Sprache: englisch
• Themenwelt: Geisteswissenschaften ► Psychologie ► Allgemeine Psychologie
• Themenwelt: Geisteswissenschaften ► Psychologie ► Biopsychologie / Neurowissenschaften
• Themenwelt: Geisteswissenschaften ► Psychologie ► Entwicklungspsychologie
• Themenwelt: Geisteswissenschaften ► Psychologie ► Klinische Psychologie
• Themenwelt: Geisteswissenschaften ► Psychologie ► Verhaltenstherapie
• Themenwelt: Medizin / Pharmazie ► Medizinische Fachgebiete ► Neurologie
• Themenwelt: Medizin / Pharmazie ► Medizinische Fachgebiete ► Psychiatrie / Psychotherapie
• Themenwelt: Naturwissenschaften ► Biologie ► Humanbiologie
• Themenwelt: Naturwissenschaften ► Biologie ► Zoologie
• ISBN-10: 0-08-092268-6 / 0080922686
• ISBN-13: 978-0-08-092268-3 / 9780080922683