Adults with Childhood Illnesses (eBook)

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J. Timothy Bricker, University of Texas Medical School, Children's Memorial Hermann Hospital, Houston, United States; Hatim A. Omar, Division of Adolescent Medicine, University of Kentucky, Lexington, United States; Joav Merrick, National Institute of Child Health and Human Development and Health Services, Ministry of Social Affairs, Jerusalem, Israel.

Contents 6
Preface 14
Abbreviations 16
Authors index 20
INTRODUCTION 24
1 Adults with childhood illnesses 26
CHILDHOOD INTO ADULTHOOD 28
2 Attention-Deficit/Hyperactivity Disorder: Epidemiology, assessment and treatment 30
2.1 Introduction 30
2.2 Diagnostic criteria, epidemiology, comorbidities and associated features 31
2.3 Assessment of ADHD in children and adolescents 33
2.4 Treatment of ADHD in children and adolescents 34
2.5 ADHD in adulthood: epidemiology, comorbidities and associated features 37
2.6 Assessment of ADHD in adults 38
2.7 Treatment of ADHD in adults 39
2.8 Conclusions 41
3 Adults with cystic fibrosis 46
3.1 Introduction 46
3.2 CF care paradigm 47
3.3 Transition from pediatric to adult care 48
3.4 Challenges of treatment burden and adherence to maintain lung function 49
3.5 Diseases of aging in CF: diabetes, osteoporosis and malignancy 51
3.6 Depression and its impact on CF 55
3.7 Achieving a “normal” life 55
3.8 Conclusions 58
4 Childhood asthma into adult years 60
4.1 Introduction 60
4.2 Pathogenesis and pathophysiology of asthma 60
4.2.1 Environmental factors 62
4.2.2 Host factors (genes and sex) 62
4.3 Natural history of asthma 63
4.3.1 Natural history of asthma symptoms 63
4.3.2 Natural history of lung function and bronchial hyperreactivity 65
4.4 Prognostic factors of childhood asthma 66
4.4.1 Childhood predictors of asthma 66
4.5 Clinical differences of asthma in childhood versus adulthood 67
4.6 Predicting adult asthma 68
4.7 Asthma symptoms in childhood and adulthood 69
4.8 Impact of environmental factors 69
4.9 Asthma and development of chronic obstructive pulmonary disease 70
4.10 Impact of therapy upon the natural course of asthma 70
4.11 Conclusions 71
5 Cyanotic congenital heart defects in adulthood 76
5.1 Introduction 76
5.2 Presentation in adult years 76
5.3 Complications of right-to-left shunts 77
5.4 Patients who have had surgery for a right-to-left shunt 79
5.5 Other cardiac complications in adults survivors of cyanotic heart defects in childhood 80
5.6 Conclusion 81
6 Obstructive and regurgitant cardiac lesions in adults who had childhood heart disease 82
6.1 Introduction 82
6.2 Left ventricular outflow tract obstruction 82
6.2.1 Aortic valve stenosis and bicuspid aortic valve 82
6.2.2 Subvalvular aortic stenosis 88
6.2.3 Supravalvular aortic stenosis 89
6.3 Aortic valve regurgitation 90
6.4 Coarctation of the aorta 91
6.5 Mitral valve stenosis 93
6.6 Mitral valve regurgitation 94
6.6.1 Mitral valve prolapse 94
6.6.2 Postoperative mitral regurgitation 95
6.7 Tricuspid stenosis 96
6.8 Tricuspid valve regurgitation 96
6.8.1 Ebstein anomaly of the tricuspid valve 97
6.9 Pulmonary stenosis 98
6.10 Pulmonary regurgitation 100
7 Adults with left-to-right cardiac shunts and with shunts treated in childhood 104
7.1 Introduction 104
7.2 Atrial septal defects 104
7.2.1 Secundum ASDs 105
7.2.2 Sinus venosus ASD with partial anomalous pulmonary venous return 110
7.2.3 Endocardial cushion (atrioventricular canal) defects 113
7.2.4 Primum ASD (partial atrioventricular canal defect) 114
7.2.5 Complete atrioventricular canal defect 117
7.2.6 VSDs 120
7.2.7 PDA 125
7.2.8 Pulmonary hypertension and Eisenmenger syndrome 128
7.2.9 Future considerations 129
8 Transition of pediatric endocrine patients to adult care 132
8.1 Introduction 132
8.2 TS 132
8.2.1 Management considerations 134
8.2.2 Pediatric issues 134
8.3 CAH 138
8.3.1 Diagnostic considerations 139
8.3.2 CAH therapeutic management 140
8.3.3 Management in adults 141
8.4 DM 141
8.4.1 Incidence and prevalence of T1DM 142
8.4.2 Diagnostic considerations 143
8.4.3 Diagnostic considerations 143
8.4.4 Management considerations 144
8.4.5 The team approach 145
8.4.6 Main components of DM management 146
8.5 Conclusions 152
9 Adolescents and adults with inborn errors of metabolism 158
9.1 Introduction 158
9.2 Historical perspective of IEM 161
9.3 Prototype IEM: classic PKU 161
9.3.1 PKU: the beginning 161
9.3.2 PKU: Dietary treatment begins in the 1950s 162
9.3.3 PKU in the 1960s: newborn screening begins and improvements in dietary therapy 162
9.3.4 PKU: maternal PKU syndrome 163
9.3.5 PKU from 1965 to 2000: challenges in dietary treatment 163
9.3.6 PKU in 2007: cofactor therapy with BH4 in classic PKU and hyperphenylalaninemia 163
9.4 Advances in the diagnosis and therapies of IEM 164
9.4.1 2000 to 2006: Expanded Metabolic Screening of newborns 164
9.4.2 Metabolic diseases are invariably hereditary 164
9.5 Treatment teams 165
9.6 Pediatric patients are surviving and thriving 165
9.7 Advances in diagnosis and treatment are ongoing 166
9.7.1 Treatment strategies in IEM 166
9.8 Rigors of maintaining treatment: compliance issues 167
9.8.1 Dietary challenges in the management of PKU 167
9.9 Unique features of IEM that are helpful in the diagnosis and management of adolescents and adults 169
9.10 Conclusion 170
10 Grownups who had kidney disease in childhood 172
10.1 Introduction 172
10.2 Spectrum of kidney diseases in children 173
10.3 Physical health aspects of CKD in the child 174
10.4 Mental health aspects of CKD in the child 174
10.5 CKD: special implications related to the transitioning from pediatric to adult care 175
10.6 The adult patient with CKD as a child 176
10.7 Physical aspects of grownups with renal disease since childhood 176
10.8 Psychosocial issues in adults with childhood-onset kidney disease 178
10.9 Conclusions 178
11 Adult survivors of childhood cancer 182
11.1 Introduction 182
11.2 Hereditary considerations in cancer survivorship 183
11.3 Comprehensive long term follow-up care initiatives 183
11.4 Overview of adverse late effects as a function of therapy type 184
11.5 Secondary malignancies 185
11.6 Cardiopulmonary complications 187
11.7 Endocrine complications 189
11.8 Adverse outcomes in the CNS 190
11.9 Reproduction and fertility 192
11.10 Other late effects 193
11.11 Psychosocial support 194
11.12 Future considerations 195
11.13 Resources available to the healthcare provider 195
11.13.1 Clinical guidelines 195
11.13.2 Patient education materials 195
11.13.3 Textbooks and other publications 195
12 Adults with genetic syndromes 200
12.1 Introduction 200
12.2 Velo-cardio facial syndrome: deletion of chromosome 22q11.2 200
12.3 TS 201
12.4 Noonan syndrome 203
12.5 Down syndrome (trisomy 21) 205
12.6 Williams-Beuren Syndrome 207
12.7 Marfan syndrome and Loeys-Dietz syndromes (LDS) 209
12.8 Summary 212
13 Adult considerations of pediatric urologic care 216
13.1 Introduction 216
13.2 Upper urinary tract 216
13.2.1 Malignant upper tract pediatric urologic disease 217
13.2.2 Current treatment for specified malignancies 217
13.2.3 Post-treatment sequelae of surgery 217
13.2.4 Post-treatment sequelae of chemotherapy 217
13.2.5 Post-treatment sequelae of radiation therapy 218
13.2.6 Non-malignant upper tract pediatric urologic disease 218
13.2.7 Vesicoureteral reflux 218
13.2.8 Cystic kidney disorders 219
13.2.9 Duplicated urinary collecting systems 221
13.2.10 UPJO 222
13.2.11 Chronic pyelonephritis and renal scarring 223
13.2.12 Rotational/ascent/fusion/formation anomalies of the kidney 223
13.2.13 Megatureter, ectopic ureter and ureterocele 225
13.2.14 Lower urinary tract and genitalia 226
13.2.15 Malignant lower tract and genital-associated pediatric urologic disease 226
13.2.16 Testicular tumors 226
13.2.17 Pelvic sarcomas 227
13.2.18 Post-treatment sequelae of surgery 227
13.2.19 Post-treatment sequelae of chemotherapy 227
13.2.20 Post-treatment sequelae of radiation therapy 227
13.2.21 Non-malignant lower tract and genital-associated pediatric urologic disease 228
13.2.22 Posterior urethral valves 228
13.2.23 Hypospadias 229
13.2.24 Undescended testicles 230
13.2.25 Non-neuropathic bladder voiding dysfunction 231
13.2.26 Neuropathic bladder voiding dysfunction and urinary reconstruction 231
13.2.27 Prune belly syndrome, bladder exstrophy-epispadias, urachal cyst/patent urachus and congenital urethral strictures 233
13.3 Abnormalities of sexual differentation 234
14 Adults patients with childhood anemias 238
14.1 Introduction 238
14.2 Anemias through decreased production of RBCs 238
14.3 Anemias through abnormal maturation of RBCs: thalassemia syndromes 239
14.4 Anemias through increased destruction of RBCs 240
14.5 Sickle cell disease 240
14.5.1 Pulmonary complications 243
14.5.2 Hepatobilliary complications 243
14.5.3 Renal complication 243
14.5.4 Ocular complications 244
14.5.5 Bone complications 244
14.5.6 Dermatologic complications 244
14.5.7 Management 244
14.5.8 Transfusion therapy 244
14.5.9 Hydroxyurea 245
14.5.10 SCT 245
14.5.11 Prognosis 245
14.6 Anemias due to membrane defects: hereditary spherocytosis 245
14.7 Anemias due to enzyme deficiencies in RBCs 246
14.8 Long-term consequences of therapies used for various anemias 246
14.8.1 Splenectomy 246
14.8.2 Chronic transfusion therapy 247
15 Transition from pediatric to adult care: Social and family issues 250
15.1 Introduction 250
15.2 Transition 250
15.3 Conclusions 252
16 Disabled women and reproductive healthcare in the USA 254
16.1 Introduction 254
16.2 Health disparities for females with disabilities 255
16.2.1 Demographics 255
16.3 Women with physical disabilities 255
16.3.1 Access to services 256
16.3.2 Sexuality 256
16.3.3 Specific reproductive issues 256
16.3.4 Reproductive health and mental illness 258
16.3.5 Preconception counseling 259
16.3.6 Medications 259
16.4 Conclusions 259
17 Adults with congenital bleeding disorders 262
17.1 Introduction 262
17.2 Hemophilia A and B 263
17.3 von Willebrand disease 265
17.4 Hemophilia Treatment Centers 265
17.5 Emergency care 266
17.6 Orthopedic complications of hemophilia 266
17.7 Dental care 267
17.8 Cardiovascular disease 267
17.9 Renal disease 268
17.10 Cancer 268
17.11 Immunizations 268
17.12 Pregnancy 268
17.13 Conclusion 269
18 Children with allergic disease as adults 272
18.1 Introduction 272
18.2 Allergy intervention during childhood 273
18.3 Management of allergies after childhood 273
18.4 Testing methods 274
18.4.1 Skin testing 275
18.4.2 In-vitro testing 276
18.4.3 Positive and negative challenge testing 277
18.5 Allergy therapy 278
18.5.1 Environmental avoidance 278
18.5.2 Pharmacotherapy 278
18.5.3 Immunotherapy 281
18.5.4 Monoclonal antibody therapy for asthma 282
18.6 Conclusion 282
19 Aging with intellectual disability: Current health issues 286
19.1 Introduction 286
19.2 Trends in the aging in the population of persons with intellectual disability in residential care centers in Israel 287
19.3 Our study of > 2, 000 aging persons with intellectual disability
19.3.1 Functional behavior 290
19.3.2 General health and utilization/coordination of health services 290
19.3.3 Cardiovascular disease and risk factors 291
19.4 Health needs of older persons with intellectual disability 291
19.4.1 Mild and moderate intellectual disability 291
19.4.2 Health concerns in severe and profound intellectual disability 292
19.4.3 Health concerns in Down syndrome 293
19.4.4 Epilepsy and cerebral palsy 294
19.5 Intellectual disability and general practice 294
19.6 Conclusions 295
20 Rett syndrome into adulthood 300
20.1 Introduction 300
20.2 RS 300
20.2.1 Stages of RS 301
20.2.2 Longitudinal follow-up of adults with RS 302
20.2.3 Recent studies 303
20.2.4 Clinical manifestations of the aging person with RS 304
20.2.5 Adults with RS 306
20.2.6 Mortality 307
20.3 Discussion 307
ACKNOWLEDGEMENTS 312
21 About the editors 314
22 About the Kentucky Children’s Hospital at the University of Kentucky, Lexington, Kentucky, USA 316
23 About the Division of Adolescent Medicine at the University of Kentucky, Lexington, Kentucky, USA 318
23.1 Collaborations 318
23.2 The vision 318
23.3 Target areas of interests 319
24 About the National Institute of Child Health and Human Development in Israel 320
24.1 Mission 320
24.2 Service and academic activities 320
24.3 Research activities 320
24.4 National collaborations 321
24.5 International collaborations 321
24.6 Targets 322
Index 324