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Advances in Pediatrics 2016, E-Book

Advances in Pediatrics 2016, E-Book

Michael S. Kappy | Leslie L. Barton | Carol D. Berkowitz | Jane Carver | Moritz M. Ziegler

(2016)

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Book Details

Abstract

Advances in Pediatrics reviews the most current practices in pediatrics. A distinguished editorial board, headed by Dr.Michael Kappy, identifies key areas of major progress and controversy and invites expert pediatricians to contribute original articles devoted to these topics. These insightful overviews bring concepts to a clinical level and explore their everyday impact on patient care. Topics such as fetal diagnosis and surgical intervention, updates in pharmacology, and fatty liver disease are represented, highlighting the most current and relevant information in the field.


Table of Contents

Section Title Page Action Price
Front Cover Cover
ADVANCES IN\rPediatrics i
VOLUME 62 iii
Editor-in-Chief v
Associate Editors v
CONTRIBUTORS vii
CONTENTS xiii
Introduction\r xiii
Vincent A. Fulginiti, MD (1931–2013): A Visionary Leader in Pediatric Education, Research, and Bioethics xiii
Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome xiii
Prader Willi Syndrome: Genetics, Metabolomics, Hormonal Function, and New Approaches to Therapy xiv
Advances in the Care of Transgender Children and Adolescents xiv
Asthma Management for Children: Risk Identification and Prevention xv
The Optic Nerve Hypoplasia Spectrum: Review of the Literature and Clinical Guidelines xvi
Update on Pediatric Human Immunodeficiency Virus Infection: Paradigms in Treatment and Prevention xvi
Chronic Hepatitis C Infection in Children xvii
Update on Youth-Onset Type 2 Diabetes: Lessons Learned from the Treatment Options for Type 2 Diabetes in Adolescents and Yo ... xvii
Comorbidities of Thyroid Disease in Children xvii
Advances in Pediatric Pharmacology, Therapeutics, and Toxicology xviii
Attention-Deficit/Hyperactivity Disorder xix
Updates in Pediatric Rheumatology xix
Advances in Autism—2016 xx
The Center for Human Development in Guatemala: An Innovative Model for Global Population Health xx
Better Transportation to Health Care Will Improve Child Health and Lower Costs xxi
Toxic Stress in Children and Adolescents xxi
Update on Adolescent Contraception xxi
Docosahexaenoic Acid and Arachidonic Acid Nutrition in Early Development xxii
Using Shared Decision-Making Tools to Improve Care for Patients with Disorders of Sex Development xxii
Introduction xxv
Vincent A. Fulginiti, MD (1931–2013) 1
Key points 1
LAURA C. FULGINITI, PHD 1
GRANT MORROW III, MD 9
ELMER S. LIGHTNER, MD 10
Acknowledgments 13
References 13
Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome 15
Key points 15
EPIDEMIOLOGY AND DIAGNOSIS 15
GENETICS 22
Mosaicism 23
Gene dosage and expression 23
Skewed X-inactivation 25
Parental origin 25
Gene polymorphisms 25
Genetic counseling 26
Disclosure 27
DEVELOPMENT, BEHAVIOR AND PSYCHOLOGY 27
Early development 27
Cognitive, language, and learning profiles 28
Behavior/social-emotional development 30
TESTICULAR DEVELOPMENT AND FUNCTION 32
Infancy 32
Childhood 33
Puberty 33
Adulthood 35
OTHER MEDICAL ISSUES 36
Insulin resistance and cardiovascular disorders 36
Bone health 36
Autoimmunity 37
Malignancy 37
Other medical conditions 38
References 39
Prader Willi Syndrome 47
Key points 47
INTRODUCTION 47
GENETICS OF PRADER WILLI SYNDROME 48
Chromosomal localization 48
Candidate genes 48
Necdin gene 47
MAGEL2 family member 49
SNRPN Upstream Reading Frame 49
SNORD 116 50
CLINICAL MANIFESTATIONS OF PRADER WILLI SYNDROME 50
CONTROL OF FOOD INTAKE IN PRADER WILLI SYNDROME 51
HYPOTHALAMIC PITUITARY FUNCTION IN PRADER WILLI SYNDROME 53
Growth hormone deficiency and short stature 53
Studies in infants/toddlers 54
Data in older children 55
Data in adulthood 56
Central adrenal insufficiency 57
Hypogonadism 58
Hypothyroidism 58
Glucose homeostasis 58
EXTRAHORMONAL COMORBIDITIES IN PRADER WILLI SYNDROME 60
Sleep disorders 60
Behavioral problems and psychiatric disturbances 60
METABOLIC STUDIES 61
Body composition in Prader Willi syndrome 61
Energy balance in Prader Willi syndrome 61
CURRENT STANDARD THERAPIES 62
Nutritional phases and hyperphagia 62
Nutritional management 64
Sex hormone replacement therapy 65
NEW APPROACHES TO THERAPY 66
Oxytocin for hyperphagia and behavioral disorders 66
Co-enzyme Q10 and carnitine to increase energy expenditure 66
Modafinil for narcolepsy and daytime sleepiness 66
N-acetylcysteine for obsessive picking of the skin 67
Beloranib for hyperphagia 67
Bariatric surgery 68
LONG-TERM CARE AND LIFE SPAN 68
Future studies and therapies 69
SUMMARY 69
References 70
Advances in the Care of Transgender Children and Adolescents 79
INTRODUCTION 79
DEFINITIONS AND EPIDEMIOLOGY 80
HISTORICAL PERSPECTIVES 81
THE DEVELOPMENT OF GENDER IDENTITY 83
MENTAL HEALTH 85
SEX DIFFERENTIATION AND NORMAL PUBERTY 87
OVERVIEW OF MEDICAL MANAGEMENT 88
PREVENTION OF THE DEVELOPMENT OF UNWANTED SECONDARY SEX CHARACTERISTICS 88
PROMOTION OF THE DEVELOPMENT OF DESIRED SECONDARY SEX CHARACTERISTICS 92
LONGITUDINAL SCREENING AND ANTICIPATORY GUIDANCE 93
GENDER AFFIRMATIVE SURGERY 94
OUTCOMES 95
CHALLENGES AND BARRIERS TO CARE 95
CURRENT GENDER MANAGEMENT PROGRAMS IN THE UNITED STATES AND CANADA 95
CASE EXAMPLES 96
Patient 1 96
Patient 2 97
Patient 3 97
Patient 4 97
Patient 5 97
Acknowledgments 98
References 98
Asthma Management for Children 103
Key points 103
INTRODUCTION 103
EARLY ASTHMA 104
Epidemiology of preschool and early wheeze 104
Risk factors for preschool and early wheeze 105
Phenotypes of preschool wheeze 105
Pathophysiology of preschool wheeze 106
Treatment of preschool wheeze 106
Progression to persistent wheeze and asthma 107
Long-term sequelae preschool wheeze 108
ASTHMA EXACERBATIONS 108
Predicting asthma exacerbations 108
Environmental factors 103
Biomarkers 109
Preventing and managing asthma exacerbations 110
Corticosteroids 110
Anticholinergics 110
Other emerging therapies 111
Preventing asthma exacerbations 111
SEVERE ASTHMA 111
Natural history of severe asthma 112
Severe asthma phenotypes 113
Mechanisms of severe asthma 114
Adherence 115
NEW MEDICATIONS 116
Tiotropium 117
Omalizumab 117
Mepolizumab 118
Reslizumab 118
Lebrikizumab 119
SUMMARY 119
Acknowledgments 119
References 120
The Optic Nerve Hypoplasia Spectrum 127
Key points 127
INTRODUCTION 127
EPIDEMIOLOGY 128
CAUSES AND RISK FACTORS 129
Prenatal factors and maternal age 129
Genetics 129
CLINICAL APPROACH TO CHILDREN WITH OPTIC NERVE HYPOPLASIA 130
Clinical presentations and associated features in optic nerve hypoplasia 130
Neonatal period to infancy 127
Infancy and beyond 133
Evaluation and management of children with optic nerve hypoplasia 136
Vision 136
Neuroanatomic malformations and neuropsychological abnormalities 137
Hypothalamic-pituitary axis 138
Other hypothalamic abnormalities 139
SUMMARY 142
References 142
Update on Pediatric Human Immunodeficiency Virus Infection 147
INTRODUCTION 147
EPIDEMIOLOGY OF HUMAN IMMUNODEFICIENCY VIRUS IN THE UNITED STATES 148
EPIDEMIOLOGY OF HUMAN IMMUNODEFICIENCY VIRUS WORLDWIDE 149
UPDATES ON HUMAN IMMUNODEFICIENCY VIRUS IMMUNOPATHOGENESIS 149
Immunopathogenesis of acute and chronic human immunodeficiency virus infection 149
Immune abnormalities resulting from human immunodeficiency virus 151
Elite controllers 151
PERSISTENCE, CONTROL, AND ERADICATION OF HUMAN IMMUNODEFICIENCY VIRUS: EFFORTS TOWARDS CURE 152
Human immunodeficiency virus persistence and the latent reservoir 152
Cure strategies 153
HUMAN IMMUNODEFICIENCY VIRUS DIAGNOSIS: FOCUS ON EARLY HUMAN IMMUNODEFICIENCY VIRUS INFECTION 155
REVISED HUMAN IMMUNODEFICIENCY VIRUS DISEASE STAGING 157
PARADIGMS IN HUMAN IMMUNODEFICIENCY VIRUS TREATMENT 157
COMPLICATIONS OF HUMAN IMMUNODEFICIENCY VIRUS AND TREATMENT 159
Dyslipidemia and insulin resistance 160
Cardiovascular and cerebrovascular risk 160
Bone health 161
Lipodystrophy 161
PREVENTION 161
Prevention of vertical human immunodeficiency virus transmission 161
Effects of antiretroviral and human immunodeficiency virus exposure during pregnancy and early infancy 162
Prevention of behavioral human immunodeficiency virus transmission 163
The continuum of care: treatment as prevention 163
SUMMARY 165
References 165
Chronic Hepatitis C Infection in Children 173
INTRODUCTION 173
EPIDEMIOLOGY 174
VIROLOGY AND PATHOGENESIS 174
TRANSMISSION 175
NATURAL HISTORY 176
DIAGNOSIS AND TESTING 178
TREATMENT 179
Who needs treatment? 179
Currently approved treatment in children 179
Interferon 173
Ribavirin 181
Side effects 181
Special populations 182
Future therapies 184
References 187
Update on Youth-Onset Type 2 Diabetes 195
INTRODUCTION 195
TREATMENT OPTIONS FOR TYPE 2 DIABETES IN ADOLESCENTS AND YOUTH TRIAL RESULTS 196
LESSONS FROM THE TREATMENT OPTIONS FOR TYPE 2 DIABETES IN ADOLESCENTS AND YOUTH RUN-IN 197
DURABLE CONTROL 198
METABOLIC SYNDROME 198
PARENTAL DIABETES 201
PREGNANCY 202
COMPLICATIONS 204
FUTURE RESEARCH 206
Acknowledgments 206
References 207
Comorbidities of Thyroid Disease in Children 211
INTRODUCTION: COMORBIDITIES OF THYROID DISEASE IN CHILDREN 211
CONGENITAL HYPOTHYROIDISM 212
Neurologic/psychiatric impact 212
Growth effects 213
Weight effects and related complications 214
Cardiovascular risk 214
ACQUIRED AUTOIMMUNE HYPOTHYROIDISM (HASHIMOTO THYROIDITIS) 214
Neurologic/psychiatric impact 214
Growth effects 215
Weight effects and related complications 216
Cardiovascular risk 216
Subclinical hypothyroidism 217
Neurologic/psychiatric impact 217
Growth effects 217
Weight effects and related complications 217
Cardiovascular risk 218
Who to treat with subclinical hypothyroidism 218
COMORBIDITIES ASSOCIATED WITH AUTOIMMUNE HYPERTHYROIDISM/GRAVES’ DISEASE 218
Neurologic/psychiatric impact 218
Growth effects 219
Weight effects and related complications 220
Cardiovascular risk 220
References 220
Advances in Pediatric Pharmacology, Therapeutics, and Toxicology 227
Key points 227
INTRODUCTION 227
ANESTHESIA 228
Sedation 228
Pain management 229
CARDIOLOGY 234
Pulmonary hypertension 234
Hypertension 235
DERMATOLOGY 235
Atopic dermatitis 235
GASTROENTEROLOGY 236
Inflammatory bowel disease: ulcerative colitis and Crohn disease 236
Constipation 237
Gastroesophageal reflux disease 237
GENETIC AND METABOLIC DISEASES 238
INFECTIOUS DISEASE 239
Pharmacokinetics 239
Pneumonia 239
Hepatitis B 240
HIV 240
Congenital cytomegalovirus 241
Pneumococcal disease 242
NEUROLOGY 242
Migraines 242
Seizures 243
ONCOLOGY 243
PULMONARY AND ALLERGY 244
Asthma 244
Allergic rhinitis 244
Cystic fibrosis 245
PSYCHIATRY 246
RHEUMATOLOGY 246
Juvenile idiopathic arthritis 246
SYMPTOMATIC CARE 247
SUMMARY 248
References 248
Attention-Deficit/Hyperactivity Disorder 255
INTRODUCTION 255
PREVALENCE 256
ETIOPATHOGENESIS 256
CLINICAL FEATURES AND DIAGNOSIS 258
DIFFERENTIAL DIAGNOSIS 260
COMORBIDITY 260
CLINICAL EVALUATION 262
History 262
Physical examination 263
LABORATORY EVALUATION 263
MANAGEMENT 264
Pharmacologic intervention 264
Stimulants 255
Atomoxetine 268
α2-Adrenergic agonists 268
Antidepressants 269
Educational intervention 270
Behavioral intervention 270
Family therapy 271
Psychotherapy 271
Dietary intervention 271
PROGNOSIS 272
References 272
Updates in Pediatric Rheumatology 281
Key points 281
RHEUMATIC DISEASES 281
Juvenile idiopathic arthritis 282
Biomarkers 281
Clinical features 283
Oligoarticular juvenile idiopathic arthritis 283
Anterior uveitis 285
Differential diagnosis 285
Laboratory tests 285
Treatment and prognosis 285
Polyarticular juvenile idiopathic arthritis 286
Differential diagnosis 286
Laboratory tests 287
Treatment and prognosis 287
Systemic juvenile idiopathic arthritis 288
Macrophage activation syndrome in systemic juvenile idiopathic arthritis 289
Differential diagnosis 290
Laboratory tests 290
Treatment and prognosis 291
Psoriatic arthritis 291
Enthesitis-related arthritis and juvenile ankylosing spondylitis 291
Undifferentiated 292
Outcomes for juvenile idiopathic arthritis 292
Systemic lupus erythematosus 292
Epidemiology 292
Incidence and prevalence 292
Ethnic background 293
Age and gender 293
Clinical presentation 293
Antiphospholipid syndrome 296
Differential diagnosis 300
Laboratory tests 300
Treatment and prognosis 301
Inflammatory myopathies 302
Epidemiology 303
Incidence and prevalence 303
Ethnic background 303
Age and gender 303
Clinical presentation 303
Laboratory studies 304
Treatment and prognosis 304
Scleroderma 305
Localized scleroderma 305
Epidemiology 306
Incidence and prevalence 306
Ethnic background 306
Age and gender 306
Clinical manifestations 306
Laboratory studies 306
Treatment and prognosis 306
Systemic sclerosis 307
Epidemiology 307
Incidence and prevalence 307
Ethnic background 307
Age and gender 307
Clinical manifestations 307
Laboratory findings 308
Treatment and prognosis 308
Vasculitis 309
Epidemiology 309
Incidence and prevalence 309
Ethnic background 309
Age and gender 309
Clinical manifestations 309
Henoch-Schönlein purpura 309
Differential diagnosis 310
Treatment and prognosis 310
Kawasaki disease 310
Differential diagnosis 311
Advances in Autism—2016 333
INTRODUCTION 333
HISTORICAL OVERVIEW 334
REVISED DIAGNOSTIC CRITERIA FOR AUTISM 338
CENTRAL NERVOUS SYSTEM STRUCTURAL FINDINGS ASSOCIATED WITH CHILDREN MEETING THE CRITERIA FOR AN AUTISM SPECTRUM DISORDER 342
TREATMENT 345
Behavioral interventions 345
Pharmacologic interventions 352
DISCUSSION AND SUMMARY 352
Acknowledgments 353
References 353
The Center for Human Development in Guatemala 357
Key points 357
INTRODUCTION 357
THE POPULATION 358
THE AGRO-AMERICA–UNIVERSITY PARTNERSHIP 359
THE STRATEGIC APPROACH TO POPULATION HEALTH 362
COMMUNITY HEALTH ASSESSMENT 362
COMMUNITY ENGAGEMENT: A RAPID ANTHROPOLOGIC ASSESSMENT PROCEDURE 366
POPULATION HEALTH DOMAINS 366
Clinic services 366
Birthing center 357
Oral health program 371
Oral health care for workers and the community 372
Population evaluation 372
Community services 373
Maternal health community nursing programs 373
Pediatric community health nursing program 374
Challenges: community health nursing program 377
Employee health 378
Total Worker Health program (adult and occupational health for Agro-America) 378
Environment: water and sanitation 379
Economic opportunity 380
Education 380
CU students, residents, and fellows 381
Trifinio Center for Human Development staff and Coatepeque Hospital staff 382
Southwest Trifinio secondary and high school students 382
OVERARCHING FUNCTIONS 383
Research 383
Community organizing 383
Strategic planning and sustainability 384
SUMMARY 384
Acknowledgments 385
References 385
Better Transportation to Health Care Will Improve Child Health and Lower Costs 389
INTRODUCTION 389
TRANSPORTATION AND HEALTH CARE ACCESS 390
Transportation disadvantage 390
Geographic access and workforce shortages 390
Transportation and child health access 391
Distance, transportation, and chronic health conditions 392
Nonemergency medical transportation 393
IDENTIFYING RISK FOR TRANSPORTATION BARRIERS TO ACCESS 393
Methods 394
Results 395
Policy recommendations 395
Mobility management 389
Modifying paratransit services 397
Transportation provided by health clinics 397
Strengthening Medicaid nonemergency medical transportation 398
Coordinating transportation resources 398
Limitations of the study 398
References 399
Toxic Stress in Children and Adolescents 403
INTRODUCTION 403
EARLY LIFE ADVERSITY AND HEALTH OUTCOMES 404
Prevalence of early life adversity 406
Health outcomes associated with early life adversity 406
EARLY LIFE ADVERSITY AND TOXIC STRESS 407
The stress response 408
Anatomy and physiology of the stress response 403
Activation of the stress response 409
Sympatho-adrenomedullary axis activation 409
Hypothalamic-pituitary-adrenal axis activation 412
Central nervous system activation 413
Dysregulation of the stress response 414
Biological alterations of the stress response 414
Nervous system 415
Endocrine system 415
Immune system 415
TOXIC STRESS AND CLINICAL IMPLICATIONS 416
Multisystemic alterations 416
Neurologic, psychiatric, and behavioral alterations 416
Endocrine, metabolic, and reproductive alterations 417
Immune and inflammatory alterations 418
Genetic factors and epigenetic modifications 418
DISCUSSION 420
Acknowledgments 422
References 422
Update on Adolescent Contraception 429
ADOLESCENT CONTRACEPTION 429
TEEN PREGNANCY AND CONTRACEPTIVE USE 430
ADOLESCENT HEALTH VISITS 431
Adolescent-friendly environment 431
One-on-one relationship between provider and adolescent 431
Confidentiality and its limits need to be discussed 431
ADOLESCENT DEVELOPMENT AND THE SEXUAL HISTORY 433
CONTRACEPTIVE COUNSELING 436
Understand patient misconceptions 436
Discuss the potential impact of contraception on current and future goals 437
Empower adolescents to choose 437
Start a contraceptive method on the day of visit 437
CONTRACEPTIVE METHOD SUMMARIES 437
The Contraceptive implant 438
Key points 429
Mechanism of action 439
Advantages and method counseling 439
Managing common, expected side effects 439
Intrauterine devices 440
Description and mechanism of action 440
Method counseling 442
Managing common, expected side effects 443
Missing strings 443
Depot medroxyprogesterone acetate 443
Key points 443
Description and mechanism of action 443
Advantages and method counseling 444
Managing common, expected side effects 444
Combined hormonal contraception 445
Key points 445
Description and mechanism of action 445
Managing common, expected side effects 446
MENSTRUAL SUPPRESSION 447
COMPLEX MEDICAL CONDITIONS 447
PHYSICAL AND DEVELOPMENTAL DISABILITIES 449
SUMMARY 449
References 449
Docosahexaenoic Acid and Arachidonic Acid Nutrition in Early Development 453
Key points 453
INTRODUCTION 453
Long-chain polyunsaturated fatty acid intake as a source of docosahexaenoic acid and arachidonic acid 455
Fetal stores as a source of docosahexaenoic acid 455
Long-chain polyunsaturated fatty acid synthesis as a source of docosahexaenoic acid and arachidonic acid 456
Roles of docosahexaenoic acid and arachidonic acid in the brain 456
Brain development and assessment in infants and children 457
Cortical visual acuity 459
Cognition 460
Brain electrophysiology and studies in childhood 462
Single-nucleotide polymorphisms and cognition 462
Allergy and immunity 463
Body composition 464
Assessment of the literature on docosahexaenoic acid and arachidonic acid and infant development 464
References 466
Using Shared Decision-Making Tools to Improve Care for Patients with Disorders of Sex Development 473
INTRODUCTION 473
MANAGEMENT GOALS 474
History of the care of children with disorders of sex development 474
Importance of shared decision making for patients with disorders of sex development 475
Legal aspects of disorders of sex development care with regard to informed consent 476
The role of shared decision making in managing expectations 476
How to implement the shared decision-making tools 477
Special concerns for specific diagnoses 478
Congenital adrenal hyperplasia 473
Mayer Rokitansky Kuster Hauser syndrome 478
Complete androgen insensitivity syndrome and other XY disorders of sex development 479
DISCUSSION 479
References 480