Neurodevelopmental Disabilities (eBook)

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. He is a full time teaching faculty member in the Pediatric Residency Program at the Michigan State University Kalamazoo Center for Medical Studies, Kalamazoo, Michigan, USA. Dr Patel has subspecialty training and interests in neurodevelopmental disabilities, developmental-behavioral pediatrics, adolescent medicine and sports medicine. He has published numerous papers on a wide ranging topics in these areas and has edited several special symposia and books. E-mail: patel@kcms.msu.edu 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). Received the 1995 American Academy of Pediatrics’ Adele D. Hofmann Award for “Distinquished Contributions in Adolescent Health”, the 2000 Mayo Clinic Pediatrics Honored Alumnus Award for “National Contributions to the field of Pediatrics,” and the 2003 William B. Weil, Jr., M.D. Endowed Distinguished Pediatric Faculty Award from Michigan State University College of Medicine for “National & International Recognition as well as Exemplary Scholarship in Pediatrics.” Received the 2004 Charles R. Drew School of Medicine (Los Angeles, CA) Stellar Award for Contributions to Pediatric Resident Education and awarded an honorary membership in the Indian Academy of Pediatrics—an honor granted to only a few pediatricians outside of India. Was the 2007 Visiting Professor of Pediatrics at Athens University, Athens, Greece and received the Michigan State University College of Human Medicine Outstanding Community Faculty Award in 2008.  Past Chair of the National Conference and Exhibition Planning Group (Committee on Scientific Meetings) of the American Academy of Pediatrics and member of the Pediatric Academic Societies’ (SPR/PAS) Planning Committee (1998 to Present). Member of the Appeals Committee for the Pediatrics’ Residency Review Committee (RRC) of the Accreditation Council for Graduate Medical Education (Chicago, IL) in both Adolescent Medicine and General Pediatrics. Numerous publications in adolescent health and lectureships in many countries on adolescent health. E-mail: Greydanus@kcms.msu.edu Hatim A Omar, MD, FAAP, Professor of Pediatrics and Obstetrics and Gynecology and Director of the Section of Adolescent Medicine, Department of Pediatrics, University of Kentucky, Lexington. Dr. Omar has completed residency training in obstetrics and gynecology as well as Pediatrics. He has also completed fellowships in vascular physiology and adolescent medicine. He is the recipient of the Commonwealth of Kentucky Governor’s Award for Community Service and Volunteerism He is the recipient of the Commonwealth of Kentucky Governer's Award for community service and volunteerism in 2000, KY teen Pregnancy Coalition Award for outstanding service 2002, Awards for suicide prevention from the Ohio Valley Society for Adolescent Medicine and Kentucky Pediatric Society in 2005 and 2007, Sexual Abuse Awareness Month Award for his work with sexual abuse victims from the KY association of sexual assault professionals in 2007, Special Achievement Award from the American Academy of Pediatrics 2007 and the Founders of Adolescent Medicine Award from the AAP in 2007. He is well known internationally with numerous publications in child health, pediatrics, adolescent medicine, pediatric and adolescent gynecology. E-mail: haomar2@uky.edu   Joav Merrick, MD, MMedSci, DMSc, is professor of pediatrics, child health and human development affiliated with Kentucky Children’s Hospital, University of Kentucky, Lexington, United States and the Zusman Child Development Center, Division of Pediatrics, Soroka University Medical Center, Ben Gurion University, Beer-Sheva, Israel, the medical director of the Health Services, Division for Mental Retardation, Ministry of Social Affairs, Jerusalem, the founder and director of the National Institute of Child Health and Human Development. Numerous publications in the field of pediatrics, child health and human development, rehabilitation, intellectual disability, disability, health, welfare, abuse, advocacy, quality of life and prevention. Received the Peter Sabroe Child Award for outstanding work on behalf of Danish Children in 1985 and the International LEGO-Prize (“The Children’s  Nobel Prize”) for an extraordinary contribution towards improvement in child welfare and well-being in 1987. E-mail: jmerrick@internet-zahav.net;

Foreword 5
References 7
Contents 8
Contributors 11
About the Editors 14
1 Neurodevelopmental Disabilities: Introduction and Epidemiology 16
Introduction 16
Intellectual Disability 18
Learning Disabilities 19
Communication Disorders 20
Autism Spectrum Disorders 21
Cerebral Palsy 22
Myelomeningocele 22
Dual Diagnosis 23
Hearing Loss 23
Vision Impairment 24
Conclusions 25
References 26
2 Basic Concepts of Developmental Diagnosis 29
Introduction 29
Definitions 30
Clinical Features 31
Infants 31
Predominant Delay in Motor Milestones 31
Atypical Development Affecting Social, Cognitive, and Language Milestones 32
Children 32
Atypical Language Development 32
Regression of Previously Acquired Skills or Failure to Acquire Expected New Skills 35
Early Learning Difficulties and Behavioral Symptoms 36
Adolescents 36
Academic Difficulties 36
Diagnosis 37
Conclusions 39
References 39
3 Psychological Assessment and Testing 42
Introduction 42
Disability or Delay 44
Collecting Background Information 45
Observational Data Collection 46
Testing Circumstances 46
Testing Conditions 47
Testing Environment 47
Appropriate Time Between Testing Referrals 48
Ethical Concerns and Cautions 48
Psychological Report 49
Norms 50
Statistical Concepts and the Bell Curve 50
Percentiles 51
Standard Scores 51
Confidence Intervals 52
A Word of Warning About Grade Equivalence 52
Neuropsychological Testing and Psychological Testing 52
Psychometric Testing Measures 53
Cognitive Assessment 53
Verbal or Language Skills 53
Non-verbal or Performance Skills 53
Executive Functioning 55
Memory Functions 55
Neuropsychological Measures 57
Academic or Achievement Assessments 58
Developmental or Adaptive Assessments 58
Behavioral Symptom Assessment 60
Emotional Functioning Assessment 60
Personality Assessment 60
The Psychological Assessment Report 60
Recommendations 63
Referrals 63
Other Recommendations 64
Conclusions 65
References 65
4 Inborn Errors of Metabolism 66
Introduction 66
Definition 67
Epidemiology 67
Etiopathogenesis 67
Clinical Features 69
Early-Onset Disorders 70
Silent Disorders 70
Disorders Presenting with Acute Metabolic Encephalopathy 70
Disorders Presenting with Metabolic Acidosis 71
Disorders Presenting with Hyperammonemia 71
Disorders Presenting Later on in Childhood 71
Diagnosis 71
Newborn Screening 74
Principles of Management 77
General Principles of Treatment 77
Specific Therapeutic Measures 77
Conclusions 77
References 79
5 Genetic Evaluation in Developmental Disabilities 81
Introduction 81
Family History 82
Prenatal History 82
Medical and Developmental History 82
Physical Evaluation 83
Testing 84
15q13.3 Deletion 87
16p11.2 Deletion 87
17q21.31 Deletion 87
Summary 88
References 89
6 Neurodevelopmental Disorders in Common Syndromes 91
Introduction 91
Angelman Syndrome 92
Down Syndrome 93
Fragile X Syndrome 94
Klinefelter (XXY) Syndrome 95
Neurofibromatosis 97
Noonan Syndrome 97
Prader–Willi Syndrome 98
Rett Syndrome 99
Smith-Magenis Syndrome 100
Sotos Syndrome 101
Tuberous Sclerosis 101
Turner Syndrome 102
Velocardiofacial Syndrome 103
Williams Syndrome 104
Conclusions 105
References 105
7 Autism Spectrum Disorders 109
Introduction 109
Definition 110
Autistic Disorder 111
Asperger's Disorder 111
Childhood Disintegrative Disorder (CDD) 111
Rett's Syndrome 111
Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) 111
Epidemiology 112
Genetic Factors 112
Environmental Factors 113
Clinical Features 113
Diagnosis 115
Clinical and Developmental History 115
Medical Assessment 115
Laboratory Tests 116
Autism Rating Scales 116
Treatment 117
Psycho-educational Interventions 118
Miscellaneous Interventions 119
Pharmacological Interventions 119
Conclusions 121
References 121
8 Attention Deficit Hyperactivity Disorder 123
Introduction 123
Definition 124
Epidemiology 124
Diagnosis 124
ADHD Comorbidities 125
Treatment 128
Pharmacotherapy 128
Stimulants 129
Methylphenidate Products 130
Amphetamine Products 131
Contraindications for Stimulant Use 135
Stimulant Side Effects 137
Monitoring Patients on Stimulants 138
Non-stimulant Medications 139
Atomoxetine 139
Alpha-2 Agonists 140
Clonidine 140
Guanfacine 140
Tricyclic Antidepressants 141
TCA Monitoring 143
Bupropion 144
Venlafaxine 144
Miscellaneous 145
Conclusions 146
References 147
9 Sleep in Children and Adolescents with Neurobehavioral Disorders 153
Introduction 153
Attention-Deficit Hyperactivity Disorder 153
Autism Spectrum Disorder 155
Bipolar Disorder 155
Eating Disorders 155
Management 156
Conclusions 157
References 157
10 Learning Disabilities 159
Introduction 159
Terminology 161
Definition of Learning Disabilities 162
Types of Learning Disabilities 163
Reading 163
Language 163
Written Expression 164
Mathematics 164
Etiologic Concepts 164
Epidemiology 164
Diagnosis 165
Differential Diagnosis 165
Co-morbidity 166
Assessment 166
Multidisciplinary Assessment Team 167
Treatment 168
Management 168
Outcomes 168
Conclusions 169
References 170
11 Intellectual Disability 172
Introduction 172
Definition 173
Epidemiology 174
Clinical Features 175
Diagnosis 176
Treatment 179
Conclusions 181
References 181
12 Developmental Language Disorders 183
Introduction 183
Definitions and Classification 186
Late Language Emergence 186
Language Impairment 186
Learning Disability 188
Language Impairment Secondary to Other Conditions 190
Epidemiology 191
Clinical Features 191
Diagnosis 196
Treatment 197
Conclusions 198
References 199
13 Disorders of Speech and Voice 202
Introduction 202
Definitions 204
The Development of Speech 204
Development of Speech Sounds 205
Development of Fluency 206
Development of Resonance 206
Development of Voice 206
Disorders of Speech and Voice 207
Clinical Assessment of Speech and Voice 208
Disorders of Speech Sound Production 210
Perceptual Characteristics of Speech Sound Disorders 210
Organic Causes of Speech Sound Disorders 210
Neurologic Causes of Speech Sound Disorders 210
Developmental, Functional, Idiopathic, or Behavioral Causes of Speech Sound Disorders 211
Disorders of Speech Fluency 211
Perceptual Characteristics of Fluency Disorders 211
Neurologic Causes of Fluency Disorders 212
Developmental, Functional, Idiopathic, or Behavioral Causes of Fluency Disorders 212
Resonance Disorders 213
Perceptual Characteristics of Resonance Disorders 213
Organic Causes of Resonance Disorders 213
Neurologic Causes of Resonance Disorders 213
Functional Causes of Resonance Disorders 214
Voice Disorders 214
Perceptual Characteristics of Voice Disorders 214
Organic Causes of Voice Disorders 215
Neurologic Causes of Voice Disorders 215
Developmental, Functional, Idiopathic, or Behavioral Causes 215
When to Refer 215
Suspected Speech Sound Disorders 216
Suspected Fluency Disorders 216
Suspected Resonance Disorders 216
Suspected Voice Disorders 216
Evaluation of Speech and Voice Disorders 217
Evaluation of Speech Production 217
Evaluation of Speech Fluency 217
Evaluation of Speech Resonance 218
Evaluation of Vocal Function 218
Management 218
Conclusions 219
References 220
14 Tic Disorders 222
Introduction 222
Definition 223
Clinical Features 223
Transient Tic Disorder 223
Chronic Motor or Vocal Tic Disorder 224
Tourette's Disorder (Syndrome) 224
Tic Disorder Not Otherwise Specified 225
Epidemiology 225
Diagnosis 226
Treatment 226
Pharmacotherapy 227
Alpha-Agonists 227
Antipsychotics 230
Miscellaneous Drugs 232
Stimulants 232
Other Treatments 232
Conclusions 233
References 233
15 Medical Management of Cerebral Palsy 236
Introduction 236
Definition 236
Epidemiology 237
Clinical Features 238
Diagnosis 238
Classification 239
Prognosis 239
Management 240
Seizures 242
Cognition and Learning 242
Nutrition and Growth 243
Swallowing 244
Gastrointestinal 244
Respiratory 246
Orthopedic 246
Abnormal Tone 247
Vision 248
Hearing 248
Urologic 248
Dental 249
Sialorrhea 249
Pain 249
Sleep 250
Transition 251
Conclusions 251
References 251
16 Myelomeningocele 257
Introduction 257
Epidemiology 258
Clinical Features 258
Diagnosis 259
Treatment 261
Conclusions 261
References 261
17 Pain in Individuals with Intellectual and Developmental Disabilities 263
Introduction 263
Assessing Pain in Individuals with IDD 264
The Complexity of Assessing Pain in Individuals with IDD 265
Existing Pain Scales 266
The Facial Action Coding System (FACS) 266
The Evaluation Scale for Pain in Cerebral Palsy (ESPCP) 266
The Non-communicating Children's Pain Checklist (NCCPC) 268
The Pain Indicator for Communicatively Impaired Children (PICIC) 269
The Pediatric Pain Profile (PPP) 269
The Pain and Discomfort Scale (PADS) 269
The Non-communicating Adult's Pain Checklist (NCAPC) 270
Pain Management for Individuals with IDD 271
Physical Therapies 271
Pharmacological Treatments 272
Psychological Techniques 274
Operant Techniques 274
Modeling 275
Distraction 275
Relaxation Techniques 276
Use of Psychological Treatments During Acute Versus Chronic/Recurrent Pain 277
Implementing Pain Assessment and Management in Clinical Practice 278
Conclusions 279
References 279
18 Vision Impairment 285
Introduction 285
Categorization of Visual Impairment 287
Anatomic or Descriptive Classification 287
Classification According to Severity 288
Classification According to Etiology 290
Causes of Vision Impairment Can Be Classified as to Onset 290
Examination 290
Common Causes of Vision Impairment 294
Amblyopia 296
Strabismus 296
Cataract 297
Examples of Specific Clinical Entities 297
Down Syndrome 297
Cortical Visual Impairment 299
Additional Aspects of Treatment 300
Conclusions 302
References 303
19 Impact of Neurodevelopmental Disorders on Hearing in Children and Adolescents 305
Introduction 305
Auditory Neuropathy Spectrum Disorder (ANSD) 306
Epidemiology 307
Diagnosis and Treatment 307
Case Study 1 309
Congenital Symptomatic Cytomegalovirus (CMV) 312
Epidemiology 312
Contribution of CMV to Risk Factors for Hearing Loss and Childhood Hearing Loss 313
Diagnosis and Treatment 314
Antiviral Drugs and Hearing Impairment 314
Case Study 2 315
Trisomy 21 or Down Syndrome (DS) 317
Ear Abnormalities and Hearing Loss 318
Epidemiology 319
Diagnosis and Treatment 319
Case Study 3 321
Case Study 4 325
Conclusions 325
References 325
20 Sexuality and Gynecological Care 329
Introduction 329
Sexuality Education 330
Psychological Effects of Disability on Sexuality 330
Sexual Abuse 331
Clinician Counseling Concepts 332
Principles of Gynecological Care in Children and Adolescents with Neurodevelopmental Disabilities 333
Pediatric Gynecological Care 335
Vulvar Rash 335
Vaginal Discharge 337
Vaginal Bleeding 337
Adolescent Gynecology 338
Menstrual Disorders/Concerns 340
Contraception 341
Sexual Dysfunction 342
Conclusions 343
References 344
21 Dental Aspects 348
Introduction 348
Our Experience in Israel 349
What Have We Learned from Our Experience? 351
Dental Issues 354
Periodontal Disease 354
Dental Caries 355
Malocclusion 355
Missing Teeth, Delayed Eruption, and Enamel Hypoplasia 356
Oral Habits 356
Injuries 356
Dental Care and Down Syndrome 356
Recommendations 358
References 358
22 General Medical Care for Individuals with Developmental Disabilities 360
Introduction 360
Infancy and Childhood 362
Adolescence 362
Adulthood and Aging 364
Functional Behavior 366
General Health and Health Services Utilization and Coordination 366
Cardiovascular Disease (CV) and Risk Factors 367
Health Needs of Adults with Intellectual Disability 367
Mild and Moderate Intellectual Disability 367
Health Concerns in Severe and Profound Intellectual Disability 369
Health Concern in Down Syndrome 369
Epilepsy and Cerebral Palsy 370
Community Aspects 371
Conclusions 372
References 372
23 Principles of Team Care for Children with Developmental Disabilities 376
Introduction 376
Teams and Team Processes 377
Conceptualization of Multiple Discipline Teams 379
Discipline 379
Multiple Disciplinary 379
Unidisciplinary or Intradisciplinary 379
Multidisciplinary 379
Interdisciplinary 380
Transdisciplinary 380
Virtual or Electronic Teams 380
Evolution and Comparative Characteristics of Teams 381
Developing Effective Teams 381
Outcomes of Team Approaches in Health-Care Delivery 381
Conclusion 383
References 384
24 Working with Families and Caregivers of Individuals with Developmental Disabilities 387
Introduction 387
Definitions 388
Manifestation of Disability 388
Epidemiology 388
Clinical Features 388
Diagnosis 389
Impact of the Family's Environment 389
Social Impact on Family 390
Financial Impact 390
Parent–Professional Relationships 390
Assessment of Family Relationships 391
Treatment 392
Summary 392
References 393
25 Allied Health Professionals and Intellectual Disability: Moving Toward Independence 394
Introduction 394
Moral, Ethics, Empowerment, and Advocacy 395
Valuable Individuals 395
Pity Versus Compassion 395
Physical Integration Versus Social Integration? 396
Research in Individuals with ID 396
Mediation of the Person with ID to Others 397
Keep an Eye on the Helpless and Give Them a Voice 397
Therapeutic Intervention 397
A Case Story 402
Therapeutic Needs 403
Unmet Therapeutic Needs 403
Holistic Evaluation 404
Intervention 405
Intervention Across the Life Span 406
Early Intervention 407
Intervention in Adults with ID 408
Direct Care 409
Dosage 410
Indirect Care and Counseling 412
Conclusions 415
As Preventive Measures 416
In Regard to Ongoing Health Management 416
References 416
26 Adoption 423
Introduction 423
Historical Perspective 424
Epidemiology 426
Medical and Developmental Concerns 428
Emotional and Adjustment Difficulties in Adopted Children 429
Infant–Mother Attachment Theory 431
Intervention and Preventive Services 431
Summary 432
References 433
27 Palliative Care and End-of-Life Issues 435
Introduction 435
Infants, Children, and Youth 436
Adulthood 437
Causes of Death 438
Palliative Care and End of Life 439
Conclusions 440
References 441
28 Transition from Child-Oriented to Adult-Oriented Health Care 442
Introduction 442
The Process of Transition 443
Modulating Factors 444
The Adolescent and the Family 444
The Physician and the Medical Team 445
The System of Health Care 445
Access to Adult Subspecialty Care 446
Hospital Care 446
The Nature of Chronic Disease or Disability 446
Health-Care Transition Programs 447
Conclusions 448
References 449
29 Psychosocial Functioning in Youth with Chronic Illness 451
Introduction 451
Psychosocial Functioning 452
Academic and Social Functioning 452
Involvement in Risky Behaviors 453
Psychiatric Functioning 454
Family Functioning 455
Treatment Considerations 456
Adherence to Treatment 458
Conclusion 461
References 462
30 Parents and Siblings 465
Introduction 465
Parental Reaction to the Birth of a Child with Disability 466
Parental Guilt 469
Influence on Parental Married Life 470
Influence on Siblings 471
Conclusions 473
References 473
31 Parenthood 475
Introduction 475
Sexuality and Persons with Disability 476
Earlier Studies on Intellectual Disability and Parenthood 476
Prevalence of Parenthood 477
The Concept of Marriage in Judaism 477
Legal Aspects of Jewish Marriage 478
Children 479
Interaction in Families with Intellectual Disability 479
Discussion 481
Conclusions 483
References 484
Appendix A 485
About Michigan State University College of Human Medicine 485
Mission and Service 485
Research Activities 486
Appendix B 487
About Division of Adolescent Medicine University of Kentucky 487
Collaborations 487
The Vision 488
Target Areas of Interests 488
Appendix C 489
About National Institute of Child Health and Human Development, Jerusalem, Israel 489
Mission 489
Service and Academic Activities 489
Research Activities 490
National Collaborations 490
International Collaborations 490
Targets 491
Index 492