简介
Developmental disabilities or neurodevelopmental disabilities (includes intellectual disability) are a diverse group of chronic disorders that begin at anytime during the development process (including conception, birth, and growth) up to 22 years of age and last throughout an individual鈥檚 lifetime. Major disabilities include intellectual disability, learning disabilities, communication disorders, autism spectrum disorders, cerebral palsy and neural tube defects. 聽 This book is a handy guide for practicing physicians and allied health professionals, who care for children and adolescents with developmental disabilities and their families. Written and edited by experts in the field engaged in the practice of developmental disabilities, this book provides a concise and easily accessible source on the subject. The consistent style, simplicity of presentation and numerous tables and figures enhance the understanding of complex concepts. 聽 聽 Dilip R Patel, MD, FAAP, FSAM, FAACPDM, FACSM, is professor in the Department of Pediatrics and Human Development at the Michigan State University College of Human Medicine, East Lansing, Michigan, USA. 聽 Donald E. Greydanus MD, FAAP, FSAM, FIAP (H) is Professor of Pediatrics and Human Development at Michigan State University College of Human Medicine (East Lansing, Michigan, USA) and Director of the Pediatrics Residency Program at Michigan State University/ Kalamazoo Center for Medical Studies (Kalamazoo, Michigan, USA). 聽 Hatim A Omar, MD, FAAP, Professor of Pediatrics and Obstetrics and Gynecology and Director of the Division of Adolescent Medicine, Department of Pediatrics, University of Kentucky, Lexington, USA. 聽 Joav Merrick, MD, MMedSci, DMSc, is professor of child health and human development affiliated with Kentucky Children鈥檚 Hospital, University of Kentucky, Lexington, United States. The medical director of the Health Service, Division for Mental Retardation, Ministry of Social Affairs, Jerusalem and the founder and director of the National Institute of Child Health and Human Development, Israel.
目录
Foreword 4
References 6
Contents 7
Contributors 10
About the Editors 13
1 Neurodevelopmental Disabilities: Introduction and Epidemiology 15
Introduction 15
Intellectual Disability 17
Learning Disabilities 18
Communication Disorders 19
Autism Spectrum Disorders 20
Cerebral Palsy 21
Myelomeningocele 21
Dual Diagnosis 22
Hearing Loss 22
Vision Impairment 23
Conclusions 24
References 25
2 Basic Concepts of Developmental Diagnosis 28
Introduction 28
Definitions 29
Clinical Features 30
Infants 30
Predominant Delay in Motor Milestones 30
Atypical Development Affecting Social, Cognitive, and Language Milestones 31
Children 31
Atypical Language Development 31
Regression of Previously Acquired Skills or Failure to Acquire Expected New Skills 34
Early Learning Difficulties and Behavioral Symptoms 35
Adolescents 35
Academic Difficulties 35
Diagnosis 36
Conclusions 38
References 38
3 Psychological Assessment and Testing 41
Introduction 41
Disability or Delay 43
Collecting Background Information 44
Observational Data Collection 45
Testing Circumstances 45
Testing Conditions 46
Testing Environment 46
Appropriate Time Between Testing Referrals 47
Ethical Concerns and Cautions 47
Psychological Report 48
Norms 49
Statistical Concepts and the Bell Curve 49
Percentiles 50
Standard Scores 50
Confidence Intervals 51
A Word of Warning About Grade Equivalence 51
Neuropsychological Testing and Psychological Testing 51
Psychometric Testing Measures 52
Cognitive Assessment 52
Verbal or Language Skills 52
Non-verbal or Performance Skills 52
Executive Functioning 54
Memory Functions 54
Neuropsychological Measures 56
Academic or Achievement Assessments 57
Developmental or Adaptive Assessments 57
Behavioral Symptom Assessment 59
Emotional Functioning Assessment 59
Personality Assessment 59
The Psychological Assessment Report 59
Recommendations 62
Referrals 62
Other Recommendations 63
Conclusions 64
References 64
4 Inborn Errors of Metabolism 65
Introduction 65
Definition 66
Epidemiology 66
Etiopathogenesis 66
Clinical Features 68
Early-Onset Disorders 69
Silent Disorders 69
Disorders Presenting with Acute Metabolic Encephalopathy 69
Disorders Presenting with Metabolic Acidosis 70
Disorders Presenting with Hyperammonemia 70
Disorders Presenting Later on in Childhood 70
Diagnosis 70
Newborn Screening 73
Principles of Management 76
General Principles of Treatment 76
Specific Therapeutic Measures 76
Conclusions 76
References 78
5 Genetic Evaluation in Developmental Disabilities 80
Introduction 80
Family History 81
Prenatal History 81
Medical and Developmental History 81
Physical Evaluation 82
Testing 83
15q13.3 Deletion 86
16p11.2 Deletion 86
17q21.31 Deletion 86
Summary 87
References 88
6 Neurodevelopmental Disorders in Common Syndromes 90
Introduction 90
Angelman Syndrome 91
Down Syndrome 92
Fragile X Syndrome 93
Klinefelter (XXY) Syndrome 94
Neurofibromatosis 96
Noonan Syndrome 96
Prader\u2013Willi Syndrome 97
Rett Syndrome 98
Smith-Magenis Syndrome 99
Sotos Syndrome 100
Tuberous Sclerosis 100
Turner Syndrome 101
Velocardiofacial Syndrome 102
Williams Syndrome 103
Conclusions 104
References 104
7 Autism Spectrum Disorders 108
Introduction 108
Definition 109
Autistic Disorder 110
Asperger's Disorder 110
Childhood Disintegrative Disorder (CDD) 110
Rett's Syndrome 110
Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) 110
Epidemiology 111
Genetic Factors 111
Environmental Factors 112
Clinical Features 112
Diagnosis 114
Clinical and Developmental History 114
Medical Assessment 114
Laboratory Tests 115
Autism Rating Scales 115
Treatment 116
Psycho-educational Interventions 117
Miscellaneous Interventions 118
Pharmacological Interventions 118
Conclusions 120
References 120
8 Attention Deficit Hyperactivity Disorder 122
Introduction 122
Definition 123
Epidemiology 123
Diagnosis 123
ADHD Comorbidities 124
Treatment 127
Pharmacotherapy 127
Stimulants 128
Methylphenidate Products 129
Amphetamine Products 130
Contraindications for Stimulant Use 134
Stimulant Side Effects 136
Monitoring Patients on Stimulants 137
Non-stimulant Medications 138
Atomoxetine 138
Alpha-2 Agonists 139
Clonidine 139
Guanfacine 139
Tricyclic Antidepressants 140
TCA Monitoring 142
Bupropion 143
Venlafaxine 143
Miscellaneous 144
Conclusions 145
References 146
9 Sleep in Children and Adolescents with Neurobehavioral Disorders 152
Introduction 152
Attention-Deficit Hyperactivity Disorder 152
Autism Spectrum Disorder 154
Bipolar Disorder 154
Eating Disorders 154
Management 155
Conclusions 156
References 156
10 Learning Disabilities 158
Introduction 158
Terminology 160
Definition of Learning Disabilities 161
Types of Learning Disabilities 162
Reading 162
Language 162
Written Expression 163
Mathematics 163
Etiologic Concepts 163
Epidemiology 163
Diagnosis 164
Differential Diagnosis 164
Co-morbidity 165
Assessment 165
Multidisciplinary Assessment Team 166
Treatment 167
Management 167
Outcomes 167
Conclusions 168
References 169
11 Intellectual Disability 171
Introduction 171
Definition 172
Epidemiology 173
Clinical Features 174
Diagnosis 175
Treatment 178
Conclusions 180
References 180
12 Developmental Language Disorders 182
Introduction 182
Definitions and Classification 185
Late Language Emergence 185
Language Impairment 185
Learning Disability 187
Language Impairment Secondary to Other Conditions 189
Epidemiology 190
Clinical Features 190
Diagnosis 195
Treatment 196
Conclusions 197
References 198
13 Disorders of Speech and Voice 201
Introduction 201
Definitions 203
The Development of Speech 203
Development of Speech Sounds 204
Development of Fluency 205
Development of Resonance 205
Development of Voice 205
Disorders of Speech and Voice 206
Clinical Assessment of Speech and Voice 207
Disorders of Speech Sound Production 209
Perceptual Characteristics of Speech Sound Disorders 209
Organic Causes of Speech Sound Disorders 209
Neurologic Causes of Speech Sound Disorders 209
Developmental, Functional, Idiopathic, or Behavioral Causes of Speech Sound Disorders 210
Disorders of Speech Fluency 210
Perceptual Characteristics of Fluency Disorders 210
Neurologic Causes of Fluency Disorders 211
Developmental, Functional, Idiopathic, or Behavioral Causes of Fluency Disorders 211
Resonance Disorders 212
Perceptual Characteristics of Resonance Disorders 212
Organic Causes of Resonance Disorders 212
Neurologic Causes of Resonance Disorders 212
Functional Causes of Resonance Disorders 213
Voice Disorders 213
Perceptual Characteristics of Voice Disorders 213
Organic Causes of Voice Disorders 214
Neurologic Causes of Voice Disorders 214
Developmental, Functional, Idiopathic, or Behavioral Causes 214
When to Refer 214
Suspected Speech Sound Disorders 215
Suspected Fluency Disorders 215
Suspected Resonance Disorders 215
Suspected Voice Disorders 215
Evaluation of Speech and Voice Disorders 216
Evaluation of Speech Production 216
Evaluation of Speech Fluency 216
Evaluation of Speech Resonance 217
Evaluation of Vocal Function 217
Management 217
Conclusions 218
References 219
14 Tic Disorders 221
Introduction 221
Definition 222
Clinical Features 222
Transient Tic Disorder 222
Chronic Motor or Vocal Tic Disorder 223
Tourette's Disorder (Syndrome) 223
Tic Disorder Not Otherwise Specified 224
Epidemiology 224
Diagnosis 225
Treatment 225
Pharmacotherapy 226
Alpha-Agonists 226
Antipsychotics 229
Miscellaneous Drugs 231
Stimulants 231
Other Treatments 231
Conclusions 232
References 232
15 Medical Management of Cerebral Palsy 235
Introduction 235
Definition 235
Epidemiology 236
Clinical Features 237
Diagnosis 237
Classification 238
Prognosis 238
Management 239
Seizures 241
Cognition and Learning 241
Nutrition and Growth 242
Swallowing 243
Gastrointestinal 243
Respiratory 245
Orthopedic 245
Abnormal Tone 246
Vision 247
Hearing 247
Urologic 247
Dental 248
Sialorrhea 248
Pain 248
Sleep 249
Transition 250
Conclusions 250
References 250
16 Myelomeningocele 256
Introduction 256
Epidemiology 257
Clinical Features 257
Diagnosis 258
Treatment 260
Conclusions 260
References 260
17 Pain in Individuals with Intellectual and Developmental Disabilities 262
Introduction 262
Assessing Pain in Individuals with IDD 263
The Complexity of Assessing Pain in Individuals with IDD 264
Existing Pain Scales 265
The Facial Action Coding System (FACS) 265
The Evaluation Scale for Pain in Cerebral Palsy (ESPCP) 265
The Non-communicating Children's Pain Checklist (NCCPC) 267
The Pain Indicator for Communicatively Impaired Children (PICIC) 268
The Pediatric Pain Profile (PPP) 268
The Pain and Discomfort Scale (PADS) 268
The Non-communicating Adult's Pain Checklist (NCAPC) 269
Pain Management for Individuals with IDD 270
Physical Therapies 270
Pharmacological Treatments 271
Psychological Techniques 273
Operant Techniques 273
Modeling 274
Distraction 274
Relaxation Techniques 275
Use of Psychological Treatments During Acute Versus Chronic/Recurrent Pain 276
Implementing Pain Assessment and Management in Clinical Practice 277
Conclusions 278
References 278
18 Vision Impairment 284
Introduction 284
Categorization of Visual Impairment 286
Anatomic or Descriptive Classification 286
Classification According to Severity 287
Classification According to Etiology 289
Causes of Vision Impairment Can Be Classified as to Onset 289
Examination 289
Common Causes of Vision Impairment 293
Amblyopia 295
Strabismus 295
Cataract 296
Examples of Specific Clinical Entities 296
Down Syndrome 296
Cortical Visual Impairment 298
Additional Aspects of Treatment 299
Conclusions 301
References 302
19 Impact of Neurodevelopmental Disorders on Hearing in Children and Adolescents 304
Introduction 304
Auditory Neuropathy Spectrum Disorder (ANSD) 305
Epidemiology 306
Diagnosis and Treatment 306
Case Study 1 308
Congenital Symptomatic Cytomegalovirus (CMV) 311
Epidemiology 311
Contribution of CMV to Risk Factors for Hearing Loss and Childhood Hearing Loss 312
Diagnosis and Treatment 313
Antiviral Drugs and Hearing Impairment 313
Case Study 2 314
Trisomy 21 or Down Syndrome (DS) 316
Ear Abnormalities and Hearing Loss 317
Epidemiology 318
Diagnosis and Treatment 318
Case Study 3 320
Case Study 4 324
Conclusions 324
References 324
20 Sexuality and Gynecological Care 328
Introduction 328
Sexuality Education 329
Psychological Effects of Disability on Sexuality 329
Sexual Abuse 330
Clinician Counseling Concepts 331
Principles of Gynecological Care in Children and Adolescents with Neurodevelopmental Disabilities 332
Pediatric Gynecological Care 334
Vulvar Rash 334
Vaginal Discharge 336
Vaginal Bleeding 336
Adolescent Gynecology 337
Menstrual Disorders/Concerns 339
Contraception 340
Sexual Dysfunction 341
Conclusions 342
References 343
21 Dental Aspects 347
Introduction 347
Our Experience in Israel 348
What Have We Learned from Our Experience? 350
Dental Issues 353
Periodontal Disease 353
Dental Caries 354
Malocclusion 354
Missing Teeth, Delayed Eruption, and Enamel Hypoplasia 355
Oral Habits 355
Injuries 355
Dental Care and Down Syndrome 355
Recommendations 357
References 357
22 General Medical Care for Individuals with Developmental Disabilities 359
Introduction 359
Infancy and Childhood 361
Adolescence 361
Adulthood and Aging 363
Functional Behavior 365
General Health and Health Services Utilization and Coordination 365
Cardiovascular Disease (CV) and Risk Factors 366
Health Needs of Adults with Intellectual Disability 366
Mild and Moderate Intellectual Disability 366
Health Concerns in Severe and Profound Intellectual Disability 368
Health Concern in Down Syndrome 368
Epilepsy and Cerebral Palsy 369
Community Aspects 370
Conclusions 371
References 371
23 Principles of Team Care for Children with Developmental Disabilities 375
Introduction 375
Teams and Team Processes 376
Conceptualization of Multiple Discipline Teams 378
Discipline 378
Multiple Disciplinary 378
Unidisciplinary or Intradisciplinary 378
Multidisciplinary 378
Interdisciplinary 379
Transdisciplinary 379
Virtual or Electronic Teams 379
Evolution and Comparative Characteristics of Teams 380
Developing Effective Teams 380
Outcomes of Team Approaches in Health-Care Delivery 380
Conclusion 382
References 383
24 Working with Families and Caregivers of Individuals with Developmental Disabilities 386
Introduction 386
Definitions 387
Manifestation of Disability 387
Epidemiology 387
Clinical Features 387
Diagnosis 388
Impact of the Family's Environment 388
Social Impact on Family 389
Financial Impact 389
Parent\u2013Professional Relationships 389
Assessment of Family Relationships 390
Treatment 391
Summary 391
References 392
25 Allied Health Professionals and Intellectual Disability: Moving Toward Independence 393
Introduction 393
Moral, Ethics, Empowerment, and Advocacy 394
Valuable Individuals 394
Pity Versus Compassion 394
Physical Integration Versus Social Integration? 395
Research in Individuals with ID 395
Mediation of the Person with ID to Others 396
Keep an Eye on the Helpless and Give Them a Voice 396
Therapeutic Intervention 396
A Case Story 401
Therapeutic Needs 402
Unmet Therapeutic Needs 402
Holistic Evaluation 403
Intervention 404
Intervention Across the Life Span 405
Early Intervention 406
Intervention in Adults with ID 407
Direct Care 408
Dosage 409
Indirect Care and Counseling 411
Conclusions 414
As Preventive Measures 415
In Regard to Ongoing Health Management 415
References 415
26 Adoption 422
Introduction 422
Historical Perspective 423
Epidemiology 425
Medical and Developmental Concerns 427
Emotional and Adjustment Difficulties in Adopted Children 428
Infant\u2013Mother Attachment Theory 430
Intervention and Preventive Services 430
Summary 431
References 432
27 Palliative Care and End-of-Life Issues 434
Introduction 434
Infants, Children, and Youth 435
Adulthood 436
Causes of Death 437
Palliative Care and End of Life 438
Conclusions 439
References 440
28 Transition from Child-Oriented to Adult-Oriented Health Care 441
Introduction 441
The Process of Transition 442
Modulating Factors 443
The Adolescent and the Family 443
The Physician and the Medical Team 444
The System of Health Care 444
Access to Adult Subspecialty Care 445
Hospital Care 445
The Nature of Chronic Disease or Disability 445
Health-Care Transition Programs 446
Conclusions 447
References 448
29 Psychosocial Functioning in Youth with Chronic Illness 450
Introduction 450
Psychosocial Functioning 451
Academic and Social Functioning 451
Involvement in Risky Behaviors 452
Psychiatric Functioning 453
Family Functioning 454
Treatment Considerations 455
Adherence to Treatment 457
Conclusion 460
References 461
30 Parents and Siblings 464
Introduction 464
Parental Reaction to the Birth of a Child with Disability 465
Parental Guilt 468
Influence on Parental Married Life 469
Influence on Siblings 470
Conclusions 472
References 472
31 Parenthood 474
Introduction 474
Sexuality and Persons with Disability 475
Earlier Studies on Intellectual Disability and Parenthood 475
Prevalence of Parenthood 476
The Concept of Marriage in Judaism 476
Legal Aspects of Jewish Marriage 477
Children 478
Interaction in Families with Intellectual Disability 478
Discussion 480
Conclusions 482
References 483
Appendix A 484
About Michigan State University College of Human Medicine 484
Mission and Service 484
Research Activities 485
Appendix B 486
About Division of Adolescent Medicine University of Kentucky 486
Collaborations 486
The Vision 487
Target Areas of Interests 487
Appendix C 488
About National Institute of Child Health and Human Development, Jerusalem, Israel 488
Mission 488
Service and Academic Activities 488
Research Activities 489
National Collaborations 489
International Collaborations 489
Targets 490
Index 491
References 6
Contents 7
Contributors 10
About the Editors 13
1 Neurodevelopmental Disabilities: Introduction and Epidemiology 15
Introduction 15
Intellectual Disability 17
Learning Disabilities 18
Communication Disorders 19
Autism Spectrum Disorders 20
Cerebral Palsy 21
Myelomeningocele 21
Dual Diagnosis 22
Hearing Loss 22
Vision Impairment 23
Conclusions 24
References 25
2 Basic Concepts of Developmental Diagnosis 28
Introduction 28
Definitions 29
Clinical Features 30
Infants 30
Predominant Delay in Motor Milestones 30
Atypical Development Affecting Social, Cognitive, and Language Milestones 31
Children 31
Atypical Language Development 31
Regression of Previously Acquired Skills or Failure to Acquire Expected New Skills 34
Early Learning Difficulties and Behavioral Symptoms 35
Adolescents 35
Academic Difficulties 35
Diagnosis 36
Conclusions 38
References 38
3 Psychological Assessment and Testing 41
Introduction 41
Disability or Delay 43
Collecting Background Information 44
Observational Data Collection 45
Testing Circumstances 45
Testing Conditions 46
Testing Environment 46
Appropriate Time Between Testing Referrals 47
Ethical Concerns and Cautions 47
Psychological Report 48
Norms 49
Statistical Concepts and the Bell Curve 49
Percentiles 50
Standard Scores 50
Confidence Intervals 51
A Word of Warning About Grade Equivalence 51
Neuropsychological Testing and Psychological Testing 51
Psychometric Testing Measures 52
Cognitive Assessment 52
Verbal or Language Skills 52
Non-verbal or Performance Skills 52
Executive Functioning 54
Memory Functions 54
Neuropsychological Measures 56
Academic or Achievement Assessments 57
Developmental or Adaptive Assessments 57
Behavioral Symptom Assessment 59
Emotional Functioning Assessment 59
Personality Assessment 59
The Psychological Assessment Report 59
Recommendations 62
Referrals 62
Other Recommendations 63
Conclusions 64
References 64
4 Inborn Errors of Metabolism 65
Introduction 65
Definition 66
Epidemiology 66
Etiopathogenesis 66
Clinical Features 68
Early-Onset Disorders 69
Silent Disorders 69
Disorders Presenting with Acute Metabolic Encephalopathy 69
Disorders Presenting with Metabolic Acidosis 70
Disorders Presenting with Hyperammonemia 70
Disorders Presenting Later on in Childhood 70
Diagnosis 70
Newborn Screening 73
Principles of Management 76
General Principles of Treatment 76
Specific Therapeutic Measures 76
Conclusions 76
References 78
5 Genetic Evaluation in Developmental Disabilities 80
Introduction 80
Family History 81
Prenatal History 81
Medical and Developmental History 81
Physical Evaluation 82
Testing 83
15q13.3 Deletion 86
16p11.2 Deletion 86
17q21.31 Deletion 86
Summary 87
References 88
6 Neurodevelopmental Disorders in Common Syndromes 90
Introduction 90
Angelman Syndrome 91
Down Syndrome 92
Fragile X Syndrome 93
Klinefelter (XXY) Syndrome 94
Neurofibromatosis 96
Noonan Syndrome 96
Prader\u2013Willi Syndrome 97
Rett Syndrome 98
Smith-Magenis Syndrome 99
Sotos Syndrome 100
Tuberous Sclerosis 100
Turner Syndrome 101
Velocardiofacial Syndrome 102
Williams Syndrome 103
Conclusions 104
References 104
7 Autism Spectrum Disorders 108
Introduction 108
Definition 109
Autistic Disorder 110
Asperger's Disorder 110
Childhood Disintegrative Disorder (CDD) 110
Rett's Syndrome 110
Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) 110
Epidemiology 111
Genetic Factors 111
Environmental Factors 112
Clinical Features 112
Diagnosis 114
Clinical and Developmental History 114
Medical Assessment 114
Laboratory Tests 115
Autism Rating Scales 115
Treatment 116
Psycho-educational Interventions 117
Miscellaneous Interventions 118
Pharmacological Interventions 118
Conclusions 120
References 120
8 Attention Deficit Hyperactivity Disorder 122
Introduction 122
Definition 123
Epidemiology 123
Diagnosis 123
ADHD Comorbidities 124
Treatment 127
Pharmacotherapy 127
Stimulants 128
Methylphenidate Products 129
Amphetamine Products 130
Contraindications for Stimulant Use 134
Stimulant Side Effects 136
Monitoring Patients on Stimulants 137
Non-stimulant Medications 138
Atomoxetine 138
Alpha-2 Agonists 139
Clonidine 139
Guanfacine 139
Tricyclic Antidepressants 140
TCA Monitoring 142
Bupropion 143
Venlafaxine 143
Miscellaneous 144
Conclusions 145
References 146
9 Sleep in Children and Adolescents with Neurobehavioral Disorders 152
Introduction 152
Attention-Deficit Hyperactivity Disorder 152
Autism Spectrum Disorder 154
Bipolar Disorder 154
Eating Disorders 154
Management 155
Conclusions 156
References 156
10 Learning Disabilities 158
Introduction 158
Terminology 160
Definition of Learning Disabilities 161
Types of Learning Disabilities 162
Reading 162
Language 162
Written Expression 163
Mathematics 163
Etiologic Concepts 163
Epidemiology 163
Diagnosis 164
Differential Diagnosis 164
Co-morbidity 165
Assessment 165
Multidisciplinary Assessment Team 166
Treatment 167
Management 167
Outcomes 167
Conclusions 168
References 169
11 Intellectual Disability 171
Introduction 171
Definition 172
Epidemiology 173
Clinical Features 174
Diagnosis 175
Treatment 178
Conclusions 180
References 180
12 Developmental Language Disorders 182
Introduction 182
Definitions and Classification 185
Late Language Emergence 185
Language Impairment 185
Learning Disability 187
Language Impairment Secondary to Other Conditions 189
Epidemiology 190
Clinical Features 190
Diagnosis 195
Treatment 196
Conclusions 197
References 198
13 Disorders of Speech and Voice 201
Introduction 201
Definitions 203
The Development of Speech 203
Development of Speech Sounds 204
Development of Fluency 205
Development of Resonance 205
Development of Voice 205
Disorders of Speech and Voice 206
Clinical Assessment of Speech and Voice 207
Disorders of Speech Sound Production 209
Perceptual Characteristics of Speech Sound Disorders 209
Organic Causes of Speech Sound Disorders 209
Neurologic Causes of Speech Sound Disorders 209
Developmental, Functional, Idiopathic, or Behavioral Causes of Speech Sound Disorders 210
Disorders of Speech Fluency 210
Perceptual Characteristics of Fluency Disorders 210
Neurologic Causes of Fluency Disorders 211
Developmental, Functional, Idiopathic, or Behavioral Causes of Fluency Disorders 211
Resonance Disorders 212
Perceptual Characteristics of Resonance Disorders 212
Organic Causes of Resonance Disorders 212
Neurologic Causes of Resonance Disorders 212
Functional Causes of Resonance Disorders 213
Voice Disorders 213
Perceptual Characteristics of Voice Disorders 213
Organic Causes of Voice Disorders 214
Neurologic Causes of Voice Disorders 214
Developmental, Functional, Idiopathic, or Behavioral Causes 214
When to Refer 214
Suspected Speech Sound Disorders 215
Suspected Fluency Disorders 215
Suspected Resonance Disorders 215
Suspected Voice Disorders 215
Evaluation of Speech and Voice Disorders 216
Evaluation of Speech Production 216
Evaluation of Speech Fluency 216
Evaluation of Speech Resonance 217
Evaluation of Vocal Function 217
Management 217
Conclusions 218
References 219
14 Tic Disorders 221
Introduction 221
Definition 222
Clinical Features 222
Transient Tic Disorder 222
Chronic Motor or Vocal Tic Disorder 223
Tourette's Disorder (Syndrome) 223
Tic Disorder Not Otherwise Specified 224
Epidemiology 224
Diagnosis 225
Treatment 225
Pharmacotherapy 226
Alpha-Agonists 226
Antipsychotics 229
Miscellaneous Drugs 231
Stimulants 231
Other Treatments 231
Conclusions 232
References 232
15 Medical Management of Cerebral Palsy 235
Introduction 235
Definition 235
Epidemiology 236
Clinical Features 237
Diagnosis 237
Classification 238
Prognosis 238
Management 239
Seizures 241
Cognition and Learning 241
Nutrition and Growth 242
Swallowing 243
Gastrointestinal 243
Respiratory 245
Orthopedic 245
Abnormal Tone 246
Vision 247
Hearing 247
Urologic 247
Dental 248
Sialorrhea 248
Pain 248
Sleep 249
Transition 250
Conclusions 250
References 250
16 Myelomeningocele 256
Introduction 256
Epidemiology 257
Clinical Features 257
Diagnosis 258
Treatment 260
Conclusions 260
References 260
17 Pain in Individuals with Intellectual and Developmental Disabilities 262
Introduction 262
Assessing Pain in Individuals with IDD 263
The Complexity of Assessing Pain in Individuals with IDD 264
Existing Pain Scales 265
The Facial Action Coding System (FACS) 265
The Evaluation Scale for Pain in Cerebral Palsy (ESPCP) 265
The Non-communicating Children's Pain Checklist (NCCPC) 267
The Pain Indicator for Communicatively Impaired Children (PICIC) 268
The Pediatric Pain Profile (PPP) 268
The Pain and Discomfort Scale (PADS) 268
The Non-communicating Adult's Pain Checklist (NCAPC) 269
Pain Management for Individuals with IDD 270
Physical Therapies 270
Pharmacological Treatments 271
Psychological Techniques 273
Operant Techniques 273
Modeling 274
Distraction 274
Relaxation Techniques 275
Use of Psychological Treatments During Acute Versus Chronic/Recurrent Pain 276
Implementing Pain Assessment and Management in Clinical Practice 277
Conclusions 278
References 278
18 Vision Impairment 284
Introduction 284
Categorization of Visual Impairment 286
Anatomic or Descriptive Classification 286
Classification According to Severity 287
Classification According to Etiology 289
Causes of Vision Impairment Can Be Classified as to Onset 289
Examination 289
Common Causes of Vision Impairment 293
Amblyopia 295
Strabismus 295
Cataract 296
Examples of Specific Clinical Entities 296
Down Syndrome 296
Cortical Visual Impairment 298
Additional Aspects of Treatment 299
Conclusions 301
References 302
19 Impact of Neurodevelopmental Disorders on Hearing in Children and Adolescents 304
Introduction 304
Auditory Neuropathy Spectrum Disorder (ANSD) 305
Epidemiology 306
Diagnosis and Treatment 306
Case Study 1 308
Congenital Symptomatic Cytomegalovirus (CMV) 311
Epidemiology 311
Contribution of CMV to Risk Factors for Hearing Loss and Childhood Hearing Loss 312
Diagnosis and Treatment 313
Antiviral Drugs and Hearing Impairment 313
Case Study 2 314
Trisomy 21 or Down Syndrome (DS) 316
Ear Abnormalities and Hearing Loss 317
Epidemiology 318
Diagnosis and Treatment 318
Case Study 3 320
Case Study 4 324
Conclusions 324
References 324
20 Sexuality and Gynecological Care 328
Introduction 328
Sexuality Education 329
Psychological Effects of Disability on Sexuality 329
Sexual Abuse 330
Clinician Counseling Concepts 331
Principles of Gynecological Care in Children and Adolescents with Neurodevelopmental Disabilities 332
Pediatric Gynecological Care 334
Vulvar Rash 334
Vaginal Discharge 336
Vaginal Bleeding 336
Adolescent Gynecology 337
Menstrual Disorders/Concerns 339
Contraception 340
Sexual Dysfunction 341
Conclusions 342
References 343
21 Dental Aspects 347
Introduction 347
Our Experience in Israel 348
What Have We Learned from Our Experience? 350
Dental Issues 353
Periodontal Disease 353
Dental Caries 354
Malocclusion 354
Missing Teeth, Delayed Eruption, and Enamel Hypoplasia 355
Oral Habits 355
Injuries 355
Dental Care and Down Syndrome 355
Recommendations 357
References 357
22 General Medical Care for Individuals with Developmental Disabilities 359
Introduction 359
Infancy and Childhood 361
Adolescence 361
Adulthood and Aging 363
Functional Behavior 365
General Health and Health Services Utilization and Coordination 365
Cardiovascular Disease (CV) and Risk Factors 366
Health Needs of Adults with Intellectual Disability 366
Mild and Moderate Intellectual Disability 366
Health Concerns in Severe and Profound Intellectual Disability 368
Health Concern in Down Syndrome 368
Epilepsy and Cerebral Palsy 369
Community Aspects 370
Conclusions 371
References 371
23 Principles of Team Care for Children with Developmental Disabilities 375
Introduction 375
Teams and Team Processes 376
Conceptualization of Multiple Discipline Teams 378
Discipline 378
Multiple Disciplinary 378
Unidisciplinary or Intradisciplinary 378
Multidisciplinary 378
Interdisciplinary 379
Transdisciplinary 379
Virtual or Electronic Teams 379
Evolution and Comparative Characteristics of Teams 380
Developing Effective Teams 380
Outcomes of Team Approaches in Health-Care Delivery 380
Conclusion 382
References 383
24 Working with Families and Caregivers of Individuals with Developmental Disabilities 386
Introduction 386
Definitions 387
Manifestation of Disability 387
Epidemiology 387
Clinical Features 387
Diagnosis 388
Impact of the Family's Environment 388
Social Impact on Family 389
Financial Impact 389
Parent\u2013Professional Relationships 389
Assessment of Family Relationships 390
Treatment 391
Summary 391
References 392
25 Allied Health Professionals and Intellectual Disability: Moving Toward Independence 393
Introduction 393
Moral, Ethics, Empowerment, and Advocacy 394
Valuable Individuals 394
Pity Versus Compassion 394
Physical Integration Versus Social Integration? 395
Research in Individuals with ID 395
Mediation of the Person with ID to Others 396
Keep an Eye on the Helpless and Give Them a Voice 396
Therapeutic Intervention 396
A Case Story 401
Therapeutic Needs 402
Unmet Therapeutic Needs 402
Holistic Evaluation 403
Intervention 404
Intervention Across the Life Span 405
Early Intervention 406
Intervention in Adults with ID 407
Direct Care 408
Dosage 409
Indirect Care and Counseling 411
Conclusions 414
As Preventive Measures 415
In Regard to Ongoing Health Management 415
References 415
26 Adoption 422
Introduction 422
Historical Perspective 423
Epidemiology 425
Medical and Developmental Concerns 427
Emotional and Adjustment Difficulties in Adopted Children 428
Infant\u2013Mother Attachment Theory 430
Intervention and Preventive Services 430
Summary 431
References 432
27 Palliative Care and End-of-Life Issues 434
Introduction 434
Infants, Children, and Youth 435
Adulthood 436
Causes of Death 437
Palliative Care and End of Life 438
Conclusions 439
References 440
28 Transition from Child-Oriented to Adult-Oriented Health Care 441
Introduction 441
The Process of Transition 442
Modulating Factors 443
The Adolescent and the Family 443
The Physician and the Medical Team 444
The System of Health Care 444
Access to Adult Subspecialty Care 445
Hospital Care 445
The Nature of Chronic Disease or Disability 445
Health-Care Transition Programs 446
Conclusions 447
References 448
29 Psychosocial Functioning in Youth with Chronic Illness 450
Introduction 450
Psychosocial Functioning 451
Academic and Social Functioning 451
Involvement in Risky Behaviors 452
Psychiatric Functioning 453
Family Functioning 454
Treatment Considerations 455
Adherence to Treatment 457
Conclusion 460
References 461
30 Parents and Siblings 464
Introduction 464
Parental Reaction to the Birth of a Child with Disability 465
Parental Guilt 468
Influence on Parental Married Life 469
Influence on Siblings 470
Conclusions 472
References 472
31 Parenthood 474
Introduction 474
Sexuality and Persons with Disability 475
Earlier Studies on Intellectual Disability and Parenthood 475
Prevalence of Parenthood 476
The Concept of Marriage in Judaism 476
Legal Aspects of Jewish Marriage 477
Children 478
Interaction in Families with Intellectual Disability 478
Discussion 480
Conclusions 482
References 483
Appendix A 484
About Michigan State University College of Human Medicine 484
Mission and Service 484
Research Activities 485
Appendix B 486
About Division of Adolescent Medicine University of Kentucky 486
Collaborations 486
The Vision 487
Target Areas of Interests 487
Appendix C 488
About National Institute of Child Health and Human Development, Jerusalem, Israel 488
Mission 488
Service and Academic Activities 488
Research Activities 489
National Collaborations 489
International Collaborations 489
Targets 490
Index 491
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