Medical Care in Down Syndrome: A Preventive Medicine Approach (Pediatric Habilitation)

Content: Introducing Down Syndrome -- History of Down Syndrome -- Chromosome Studies -- Epidemiology -- The Development of the Child with Down Syndrome: Implications for Effective Education -- The Dynamic Process of Development -- Measuring Development in Terms of IQ -- The Wide Range of Development -- Development in the First Five Years -- The Early School Years -- Teenagers -- Effects of Down Syndrome on Development -- Why These Delays? -- What Can We Do To Improve the Children's Progress? -- Not Just Delayed -- Designing Early Intervention and Education Programs -- The Challenge -- Preventive Medicine by Age Groups -- The Neonate -- Neonatal Diagnosis -- Specific Medical Concerns -- Genetic Counseling -- Parent-Infant Attachment -- Down Syndrome Preventive Medicine Checklist: Neonatal -- The Infant: Two to Twelve Months -- Medical Problems in the First Year -- Down Syndrome Preventive Medicine Checklist: Two to Twelve Months -- The Child: One Year to Puberty -- Respiratory Infections and Middle Ear Effusions -- Airway Obstruction -- Cardiac Problems -- Orthopedic Problems -- Thyroid Difficulties -- Growth and Nutrition -- Dental Considerations -- Ocular Considerations -- Family Education and Support -- Annual Down Syndrome Preventive Medicine Checklist: Age One Year to Puberty -- The Adolescent -- Puberty -- Medical Problems in Adolescence -- Annual Down Syndrome Preventive Medicine Checklist: Adolescent -- The Adult -- Medical Concerns in Adults -- Management of Psychiatric and Behavior Disorders. Contents......Page 8 Preface......Page 6 Part I: Introducing Down Syndrome......Page 14 1. Introduction......Page 15 History of Down Syndrome......Page 18 Chromosome Studies......Page 25 Epidemiology......Page 33 References......Page 37 Introduction......Page 41 The Dynamic Process of Development......Page 43 Measuring Development in Terms of IQ......Page 44 The Wide Range of Development......Page 46 Development in the First Five Years......Page 47 The Early School Years......Page 53 Teenagers......Page 56 Why These Delays?......Page 58 What Can We Do To Improve the Children's Progress?......Page 64 Not Just Delayed......Page 66 Designing Early Intervention and Education Programs......Page 70 References......Page 74 Part II: Preventive Medicine by Age Groups......Page 80 Neonatal Diagnosis......Page 81 Speciic Medical Concerns......Page 88 Genetic Counseling......Page 91 Parent-Infant Attachment......Page 92 References......Page 93 4. The Infant: Two to Twelve Months......Page 95 Medical Problems in the First Year......Page 96 References......Page 103 Respiratory Infections and Middle Ear Effusions......Page 106 Airway Obstruction......Page 107 Orthopedic Problems......Page 108 Thyroid Difficulties......Page 111 Growth and Nutrition......Page 112 Dental Considerations......Page 113 Family Education and Support......Page 114 Annual Down Syndrome Preventive Medicine Checklist: Age One Year to Puberty......Page 121 References......Page 122 Puberty......Page 124 Medical Problems in Adolescence......Page 127 Annual Down Syndrome Preventive Medicine Checklist: Adolescent......Page 128 References......Page 129 7. The Adult......Page 130 Medical Concerns in Adults......Page 132 Management of Psychiatric and Behavior Disorders......Page 138 Office Management of Specific Psychiatric Disorders......Page 141 Management of Behavior Disorders......Page 143 Support for the Family......Page 147 Down Syndrome Preventive Medicine Checklist: Adult......Page 150 References......Page 151 Part III: What We Know About Preventive Medical Care......Page 154 8. The Ears......Page 155 The Ear at Risk......Page 156 Hearing Losses......Page 160 References......Page 161 9. The Heart......Page 164 Endocardial Cushion Defect......Page 166 Ventricular Septal Defect......Page 168 Other Defects......Page 169 Pulmonary Artery Hypertension and Pulmonary Vascular Disease......Page 170 Access to Cardiac Care......Page 171 References......Page 173 10. The Gastrointestinal System......Page 176 Duodenal Obstruction and Other Upper Gastrointestinal Anomalies......Page 177 Inflammatory Bowel Disease......Page 179 Is There Evidence for Malabsorption in Down Syndrome?......Page 180 References......Page 182 The Spine......Page 186 The Lower Extremity......Page 190 Arthropathy......Page 191 References......Page 192 12. The Endocrine System......Page 195 Thyroid Dysfunction......Page 196 Gonadal Function......Page 200 References......Page 204 Brain Structure and Function......Page 207 Seizure Disorders......Page 212 Behavior Disorders......Page 214 Moyamoya Disease......Page 217 Aging and Alzheimer's Disease......Page 218 References......Page 223 14. The Ocular System......Page 231 Strabismus......Page 232 Nystagmus......Page 233 Cataracts......Page 234 Keratoconus......Page 235 Optic Nerve Hypoplasia......Page 237 References......Page 238 The Immune System......Page 240 Hematological Diseases......Page 246 Purine Metabolism......Page 249 At Risk Immunologically......Page 250 References......Page 251 Periodontal Disease......Page 256 Dental Caries......Page 257 Dental Management......Page 259 References......Page 260 17. Is Obesity Inevitable?......Page 262 When?......Page 263 Why?......Page 265 What Can be Done?......Page 268 References......Page 270 Dermatological Diseases......Page 272 Genitourinary Disease......Page 273 Dual Diagnosis......Page 274 References......Page 276 19. Controversial Therapies......Page 278 Facial Surgery......Page 279 DMSO......Page 280 Benda's Thyroid/Pituitary Therapies......Page 281 References......Page 282 20. Legal and Financial Advice......Page 285 Part IV: The Future......Page 290 Human Chromosome 21 and Murine Trisomy 16......Page 291 Improving the Quality of Life......Page 292 References......Page 295 Appendix A: Growth Charts for Down Syndrome......Page 297 Appendix B: Specific Medical Recommendations......Page 304 Appendix C: Books About Down Syndrome for Professionals and Parents......Page 312 Appendix D: Parent Support Organizations......Page 317 Appendix E: Preventive Medicine Checklist: Neonatal Through Adult......Page 328 Appendix F: Financial Checklist for Families......Page 332 Appendix G: Using Computers to Stimulate Developmental Skills......Page 333 C......Page 337 D......Page 338 E......Page 339 I......Page 340 P......Page 341 T......Page 342 Z......Page 343

This reference provides contemporary information on all aspects of Down syndrome, investigating health concerns by age group and by organ system. The text sets out to identify and correct problems before they interrupt developing skills. It includes preventive medical checklists with summaries of appropriate medical intervention; supplies background information about history, genetics and epidemiology; outlines clinical management strategies; establishes guidelines on how to inform parents of the diagnosis and conveys practical suggestions on the handling and care of the infant; and offers a detailed review of the medical literature. Appendices provide information including growth charts and financial checklists.