8
AUTHOR INDEX Andersen, J., 106 Andersen, J.C., 100 Anni, H., 216 Armstrong, E.A., 75 Axelrod, F.B., 3 Bell, E., 154 Brunton, K., 106 Burtner, P.A., 84 Carroll, M.S., 44 Carvalho, K.S., 194 Chaboub, L.S., 230 Chelimsky, G., 27 Chelimsky, T.C., 27 Dagenais, L., 60 Deneen, B., 230, 236 Dra ́ ber, P., 216 Duerden, E.G., 65 Faulkner, S.D., 146 Fehlings, D., 127 Fehlings, M.G., 146 Findlay, B., 127 Goldenthal, M.J., 163, 176 Gorassini, M., 106 Gordon, A.M., 100 Gupta, A., 31 Hardison, H.H., 188 Jarjour, I.T., 18 Jethva, R., 163 John Lin, C.-C., 236 Kaiser, D., 242 Kaiser, D.A., 246 Katsetos, C.D., 202, 216 Khurana, D.S., 176 Kim, D., 106 Kirton, A., 106, 116 Knights, S., 127 Koutzaki, S., 202 Kuntz, N.L., 35 Larivière-Bastien, D., 154 Legarda, S.B., 229 Legido, A., 161, 163, 176 Livingstone, D., 106 Lopetinsky, B., 106 Majnemer, A., 84, 100, 154 Maltais, D.B., 84 McMahon, D.E., 258 Melvin, J.J., 202 Meyer-Heim, A., 139 Miller, S.P., 65 Moodley, M., 1, 12 Nguyen, A., 75 OGrady, K., 100 Oskoui, M., 60 Othmer, S., 246 Othmer, S.F., 246 Parikh, S., 31 Patrick, S.K., 106 Patwari, P.P., 35, 44 Putman, J., 246 Racine, E., 154 Rand, C.M., 44 Roy, F., 106 Ruff, C.A., 146 Sanders, H., 84 Shevell, M., 59, 60, 154 Switzer, L., 127 Taylor, M.J., 65 Valencia, I., 176 van Hedel, H.J.A., 139 Watt, J.-M., 106 Weese-Mayer, D.E., 44 Wright, V., 84 Yager, J., 106 Yager, J.Y., 59, 75 Yang, J.F., 106 Yorns Jr, W.R., 188 Zewdie, E., 106 1071-9091/13/$ - see front matter 1 http://dx.doi.org/10.1016/S1071-9091(13)00094-6

Author Index

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AUTHOR INDEX

Andersen, J., 106Andersen, J.C., 100Anni, H., 216Armstrong, E.A., 75Axelrod, F.B., 3

Bell, E., 154Brunton, K., 106Burtner, P.A., 84

Carroll, M.S., 44Carvalho, K.S., 194Chaboub, L.S., 230Chelimsky, G., 27Chelimsky, T.C., 27

Dagenais, L., 60Deneen, B., 230, 236Drab́er, P., 216Duerden, E.G., 65

Faulkner, S.D., 146Fehlings, D., 127Fehlings, M.G., 146Findlay, B., 127

Goldenthal, M.J., 163, 176Gorassini, M., 106Gordon, A.M., 100Gupta, A., 31

Hardison, H.H., 188

Jarjour, I.T., 18Jethva, R., 163John Lin, C.-C., 236

Kaiser, D., 242Kaiser, D.A., 246Katsetos, C.D., 202, 216Khurana, D.S., 176Kim, D., 106Kirton, A., 106, 116Knights, S., 127Koutzaki, S., 202Kuntz, N.L., 35

Larivière-Bastien, D., 154Legarda, S.B., 229

091/13/$ - see front matter

x.doi.org/10.1016/S1071-9091(13)00094-6

Legido, A., 161, 163, 176Livingstone, D., 106Lopetinsky, B., 106

Majnemer, A., 84, 100, 154Maltais, D.B., 84McMahon, D.E., 258Melvin, J.J., 202Meyer-Heim, A., 139Miller, S.P., 65Moodley, M., 1, 12

Nguyen, A., 75

O’Grady, K., 100Oskoui, M., 60Othmer, S., 246Othmer, S.F., 246

Parikh, S., 31Patrick, S.K., 106Patwari, P.P., 35, 44Putman, J., 246

Racine, E., 154Rand, C.M., 44Roy, F., 106Ruff, C.A., 146

Sanders, H., 84Shevell, M., 59, 60, 154Switzer, L., 127

Taylor, M.J., 65

Valencia, I., 176van Hedel, H.J.A., 139

Watt, J.-M., 106Weese-Mayer, D.E., 44Wright, V., 84

Yager, J., 106Yager, J.Y., 59, 75Yang, J.F., 106Yorns Jr, W.R., 188

Zewdie, E., 106

1

e2 Subject index

SUBJECT INDEX

A Adenine nucleotide translocase isoform 2 (ANT2), 217 Adolescent(s)

postural tachycardia syndrome in, 18–26 Adrenergic, 38–39

head up tilt (HUT), 38–39, 40f sympathetic skin response (SSR), 39 valsalva manuever, 39, 41f

Allgrove’s syndrome affecting neurotransmitters and neurotransmission, 7–8

Amyotrophic lateral sclerosis mitochondrial dysfunction in, 209–210

Anhydrosis congenital insensitivity to pain with, 6–7

ANS. see Autonomic nervous system (ANS) ANT2. see Adenine nucleotide translocase isoform 2

(ANT2) Antiepileptic drugs

and autonomic nervous system, 32 Antiretroviral drugs

in HIV/AIDS mitochondrial toxicity associated with, 211–212

Astrocyte development in CNS, 230–232, 231f

intermediate stages and migration, 231–232, 231f, 232t

maturation and differentiation, 231f, 232, 232t neural stem cells, 231, 231f, 232t

Astrocyte heterogeneity in CNS, 232–234

blood-brain barrier, 233 cellular diversity, 232–233 communication, 233 ion balance, 233 metabolism, 233–234 synaptogenesis and neurotransmission, 233

Astrocytes, 236–241 Ataxia syndrome, 9 Autism

genetic evidence of, 165–167 brain study, 166–167, 167t mitochondrial DNA gene defects, 165, 166t nuclear DNA gene defects, 165–166

metabolic evidence of, 168–169 brain study, 168–169 peripheral study, 166t, 168, 169t

mitochondrial dysfunction in, 163–175, 165f pathogenetic mechanisms of, 169–171

abnormal mitochondrial calcium handling, 170–171, 170f

abnormal mitochondrial oxidative stress, 170f, 171 mitochondrial activation of immune system, 169–170,

170f unified pathogenetic theory, 172–173

abnormal genetic regulation, 172 abnormal neuroimmune response, 170f, 172 abnormal purinergic signaling, 172, 172f therapeutic targets, 173

Autism spectrum disorders, 238 fragile X syndrome, 238 Rett syndrome, 238

Autonomic dysfunction in epilepsy, 31 in epilepsy and mitochondrial diseases, 31–34 in mitochondrial disorders, 33–34 quantification of, 4, 5f

symptoms of, 3–4, 4t Autonomic fibers

afferent and efferent to gastrointestinal tract, 27–28

Autonomic nervous system (ANS) and antiepileptic drugs, 32 and SUDEP, 32 and VNS, 32 role in clinical understanding and management of

pediatric FGID, 28–30 Autonomic testing

current clinically available, 37 in children

special considerations for, 35, 37 in pediatrics

rationale for, 35, 36t Axonal injury

and mitochondria, 195f, 196

B Brain development

brain imaging techniques, 66–68 DTI, 66–67 EEG, 67 fMRI, 68 functional neuroimaging, 67 MEG, 67–68 MRS imaging, 67 MTR, 67, 67f neuroprotection, 70 NIRS, 68 structural MRI, 66

in infants born preterm, 65–74, 66f in neonates

evidence from neuroimaging studies, 68–69 Brain stimulation

measuring developmental neuroplasticity, 119 modulate developmental plasticity in cerebral palsy,

116–126 modulating developmental neuroplasticity, 120 perinatal stroke, 116–117 perinatal stroke outcomes, 117–118 plastic motor organization following perinatal stroke,

118–119 repetitive TMS, 120–121 TDCS, 121 TMS, 119–120

C Calpain-3 (CAPN3)

gene mutations mitochondrial dysfunction associated with, 205

knockout muscles denotes mitochondrial dysfunction decreased very long-chain acyl-coa dehydrogenase

activity in, 205 Cardiac failure

mitochondrial dysfunction in Duchenne muscular dystrophy associated with, 205

Cardiovagal, 37–38 heart rate response to deep breathing, 37–38, 37f heart rate response to squatting, 38 heart rate response to standing, 38 heart rate variability (HRV), 38, 39f valsalva ratio (VR), 38

CCHS. see Congenital central hypoventilation syndrome (CCHS)

Subject index e3

Central nervous system (CNS)

astrocyte development intermediate stages and migration, 231–232, 231f,

232t maturation and differentiation, 231f, 232, 232t neural stem cells, 231, 231f, 232t

astrocyte form and function in developing, 230–235 astrocyte heterogeneity, 232–234

cellular diversity, 232–233 communication, 233 ion balance, 233 metabolism, 233–234 synaptogenesis and neurotransmission, 233

Centronuclear myopathy mitochondrial dysfunction in, 206

Cerebral palsy activity-based therapy for walking in children with,

107–108, 107f animal models, 77 clinical treatments for, 147–148

bimanual therapy, 147 botulinum toxin, 148 constraint-induced movement therapy, 147 gaming, 147 intrathecal baclofen pumps, 147 occupational therapy, 147 physiotherapy, 147 rehabilitation, 147 TMS, 148

combinatorial strategies, 151 bioscaffolds, 151 clinical combinatorial treatments, 151 growth factors and engineered stem cells, 151

current clinical stem cell trials for, 150–151 epidemiology of, 60–64

population-based registry, 60–63 etiology of, 146–147 evidence for therapeutic intervention in prevention of,

75–83, 76f evidence from animal models for therapeutic

intervention, 77–78 future directions in, 63 interactive computer play for, 127–128, 131, 135,

137–138 cardiovascular fitness, 135, 136t lower extremity studies, 131, 132t–134t, 135 study discussion, 135, 137 study methods, 128 study results, 128, 131 upper extremity studies, 128, 129t–131t, 131

measuring developmental neuroplasticity, 119 modulating developmental neuroplasticity, 120 on transitioning from pediatric to adult healthcare

systems, 154–159 abrupt loss of services, 157 better support and more follow-up, 157 capture values of individuals, 158 difficulty accessing physicians and healthcare

professionals, 157 fear and apprehension, 155–156 feelings of abandonment, 157 improper management and transfer of medical

records, 156 integration of ethics into transition programs,

158–159 knowledge and experience, 157 lack of cooperation or communication between

providers, 156 lack of support, preparation, and information, 156

lack of time and resources, 156–157 sadness to leave, 158, 158t services globally more appreciated, 157 study discussion, 158–159 study methods, 155 study results, 155–158, 156f

pathophysiology of, 147, 148f perinatal stroke, 116–117 perinatal stroke outcomes, 117–118 pilot study, 108–113 plastic motor organization following perinatal stroke,

118–119 prevention of, 78 rehabilitation of, 80 repetitive TMS, 120–121 rescue therapy of, 79–80 robot-assisted and computer-enhanced therapies for

children with, 139–145 arm and hand rehabilitation, 141–143, 143f future directions in, 143–144 virtual reality systems for lower extremities, 140–141,

141f, 142f stem cells in, 146–153 stroke-induced

brain stimulation measure modulate developmental plasticity in, 116–126

study discussion, 113–114 feasibility of intensive training in young children, 113 feasibility of neurophysiological measures in young

children, 114 improvements in gross motor function, 113–114

study methods intervention, 108 measure of gross motor behavior, 108 measure of quality of walking, 108–109 measures of SSEPs from the leg, 109 measures of tendon reflexes in leg, 109 MEPs from TMS, 109 participants, 108, 108t

study results adherence to training schedule, 108t, 109–110, 109f gross motor outcome, 110, 110f MEPs from TMS, 111–112, 112f qualitative improvements in leg skills, 111 quality of treadmill walking, 110–111, 111f, 112f SSEP, 112, 113f tendon reflexes, 112–113, 113f

TDCS, 121 TMS, 119–120 walking training in children with, 106–115

Channelopathy associated insensitivity to pain, 10

Chemotherapy-induced peripheral neuropathy (CIPN) mitochondrial dysfunction in, 211

Chlidren with syncope

clinical approach to, 12–17 (see also Syncope) Chromosomal disorders, 9. see also specific disorders CIMT. see Constraint-induced movement therapy (CIMT) CIPN. see Chemotherapy-induced peripheral neuropathy

(CIPN) Class III β-tubulin

mitochondria associated with, 222 CNS. see Central nervous system (CNS) Computer-based rehabilitation system

for children with cerebral palsy, 139–145 arm and hand rehabilitation, 141–143, 143f future directions in, 143–144

e4 Subject index

virtual reality systems for lower extremities, 140–141,

141f, 142f Congenital central hypoventilation syndrome (CCHS)

and sudden infant death syndrome, 44–55 brain structural and functional deficits, 50 diagnosis and presentation of, 45, 46f etiologic investigations of, 46–47

genotype-phenotype correlations in, 47 summary and significance of, 46f, 47

inheritance, testing, and genetic counseling, 49–50 related disorders, 51

ROHHAD, 51 SUDC, 51

Congenital muscular dystrophy mitochondrial dysfunction in, 203

pathogenetic considerations, 203 therapeutic use of mitochondrial permeability transition

pore modifiers in patients with, 203 Congenital myopathy

with giant mitochondria, 206 Constraint-induced movement therapy (CIMT), 101–102 Convulsive syncope, 16 Core myopathy

mitochondrial dysfunction in, 206

D Demyelinating diseases

mitochondrial dysfunction in, 194–201, 195f, 196f target and potential therapeutic approaches, 199

Developmental plasticity in cerebral palsy

brain stimulation modulate, 116–126 measuring developmental neuroplasticity, 119 modulating developmental neuroplasticity, 120 perinatal stroke, 116–117 perinatal stroke outcomes, 117–118 plastic motor organization following perinatal stroke,

118–119 repetitive TMS, 120–121 TDCS, 121 TMS, 119–120

Diabetic neuropathy mitochondrial dysfunction in, 211

Diffusion-tensor imaging (DTI), 66–67 Dopamine-beta-hydroxylase (DβH) deficiency

affecting neurotransmitters and neurotransmission, 7 Drug-induced myopathy

mitochondrial dysfunction in, 209 DTI. see Diffusion-tensor imaging (DTI) Duchenne muscular dystrophy

associated cardiac failure mitochondrial dysfunction in, 205

experimental therapeutic targeting of mitochondria in, 204–205

mitochondrial dysfunction in, 204 epidermal melanocytes in, 205

E EEG. see Electroencephalogram (EEG);

Electroencephalography (EEG) Electroencephalogram (EEG), 252 Electroencephalography (EEG), 67 Embryonic stem cells (ESCs), 148 Endogenous neuromodulation

at infralow frequencies, 246–257 assessment, 250f clinical method, 247–248 hierarchy of regulation, 248 protocols in frequency domain, 249, 249f, 250f

protocols in spatial domain, 248–249 representative clinical results, 253–255

brain instability, 253 disorders of dysregulation, 254 disorders of sleep regulation, 253 drug dependence, 253–254 PTSD, 254–255 steady-state deficits, 253

Endoplasmic reticulum network mitochondria, 221, 221f

Enteric function, 41–42 colonic transit with radiopaque markers, 42 gastric scintigraphy, 42

Epidermal melanocytes in Duchenne muscular dystrophy

in mitochondrial dysfunction, 205 Epilepsy

and mitochondrial diseases in autonomic dysfunction, 31–34

autonomic dysfunction in, 31 effect of antiepileptic drugs on

oxidative stress, 183–184 valproic acid, 181t, 182

mitochondrial dysfunction in, 176–187 effect of antiepileptic drugs on, 181t, 182–184, 183t pathogenetic mechanisms of, 179–181, 179f, 180f relationship of, 177–179, 177t, 178t therapeutic target, 184–185

therapeutic target correction of mitochondrial respiratory chain complex

deficiencies, 184 ketogenic diet, 184f, 185

Erythromelalgia, 10 ESCs. see Embryonic stem cells (ESCs) F Fabry disease

affecting small fiber function, 8 Facioscapulohumeral muscular dystrophy

mitochondrial dysfunction in, 205 Familial amyloid polyneuropathy

affecting small fiber function, 8–9 Familial rectal pain syndrome, 10. see also Paroxysmal

extreme pain disorder FGIDs. see Functional gastrointestinal disorders (FGIDs) fMRI. see Functional magnetic resonance imaging (fMRI) Fragile X syndrome, 9 Fragile X-associated tremor, 9 Friedreich ataxia

mitochondrial dysfunction in, 211 Functional gastrointestinal disorders (FGIDs)

comorbid symptoms in children with, 29–30 role of ANS in clinical understanding and management

of pediatric, 28–30 Functional magnetic resonance imaging (fMRI), 68 G Gastrointestinal tract

afferent and efferent autonomic fibers to, 27–28 Genetic autonomic disorders, 3–11

associated with autonomic dysfunction, 4–10 (see also Autonomic dysfunction)

GI tract. see Gastrointestinal tract Giant mitochondria

congenital myopathy with, 206 Gliomas

mitochondria and microtubule interactions in, 219–222 VDAC, 219–220, 220f

mitochondria as therapeutic targets in, 222–224

Subject index e5

metabolic modulation-PDK, 222–223 microtubule-modulating drugs, 223 mitochondrial-mediated apoptosis, 223 prodrug cancer therapy, 224 PUFAs, 223–224 targeting of stress response to ROS, 224 tricyclic antidepressants, 223

mitochondrial dysfunction in, 216–227 abnormal energy metabolism, 217 apoptotic signaling—mitochondrially mediated

apoptosis, 217–218 IDH mutations and oncometabolite 2-HG, 218–219 mitochondria and cytoskeleton coupling, 218 mitochondria DNA mutations, 218 mitochondrial p53 pathway, 219 mitochondrial structural abnormalities, 217 regulatory protein ANT2, 217

Gray matter development in neonates

evidence from neuroimaging studies, 68–69

H Hemiplegia

intensive upper extremity training for children with, 100–105

CIMT, 101–102 intensive bimanual training, 102

Hereditary inclusion body myopathy mitochondrial dysfunction in, 208

Hereditary peripheral neuropathy mitochondrial dysfunction in, 210–211

Hereditary sensory radicular neuropathy (HSAN), 4–5, 5f, 6t Hereditary sensory radicular neuropathy type II, 7 Hereditary sensory radicular neuropathy type III, 5–6 Hereditary sensory radicular neuropathy type IV, 6–7 HIV/AIDS. see Human immunodeficiency virus infection /

acquired immunodeficiency syndrome (HIV/AIDS)

HSAN. see Hereditary sensory radicular neuropathy HSAN Type 2. see Hereditary sensory radicular neuropathy

type II (HSAN Type 2) HSAN Type 3. see Hereditary sensory radicular neuropathy

type III HSAN Type 4. see Hereditary sensory radicular neuropathy

type IV (HSAN Type 4) Human immunodeficiency virus infection / acquired

immunodeficiency syndrome (HIV/AIDS) mitochondrial toxicity associated with antiretroviral

drugs in, 211–212 Hyperventilation syncope, 16 I Ictal dysautonomia, 31–32 Inclusion body myositis

mitochondrial dysfunction in, 207–208, 207f, 208f Induced pluripotent stem cells (iPSCs), 148–149 Infralow frequencies

and ultradian rhythms, 242–245, 243f endogenous neuromodulation at, 246–257

assessment, 249–250, 250f clinical method, 247–248 hierarchy of regulation, 248 protocols in frequency domain, 249, 249f, 250f protocols in spatial domain, 248–249

historical development of, 252–253 emergence of, 252–253 feedback on EEG, 252 feedback on SCP, 252

representative clinical results, 253–255

brain instability, 253 disorders of dysregulation, 254 disorders of sleep regulation, 253 drug dependence, 253–254 PTSD, 254–255 steady-state deficits, 253

theoretical basis of, 250–252 electrode placement, 251–252, 251f slow cortical potential, 250–251

Intensive upper extremity training for children with hemiplegia, 100–105

CIMT, 101–102 intensive bimanual training, 102

Interactive computer play for cerebral palsy, 127–128, 131, 135, 137–138

cardiovascular fitness, 135, 136t lower extremity studies, 131, 132t–134t, 135 study discussion, 135, 137 study methods, 128 study results, 128, 131 upper extremity studies, 128, 129t–131t, 131

iPSCs. see Induced pluripotent stem cells (iPSCs) M Magnetic resonance imaging (MRI), 66 Magnetic resonance spectroscopy (MRS) imaging, 67 Magnetization transfer ratio (MTR), 67 Magnetoencephalography (MEG), 67–68 MEG. see Magnetoencephalography (MEG) Menkes disease

affecting neurotransmitters and neurotransmission, 8 MEPs. see Motor-evoked potentials (MEPs) Mesenchymal stem cells (MSCs), 149–150 Microneurography, 42 Microtubule

and mitochondria interactions in cancer, 219–222 VDAC, 219–220, 220f

and mitochondrial dynamics, 220–221 Migraine

mitochondrial dysfunction in, 188–193 biochemical evidence, 189–190 genetic evidence, 190–191 morphologic evidence, 1901 therapeutic evidence, 191

Mitochondria, 194–195, 195f and axonal injury, 195f, 196 and microtubule interactions in cancer, 219–222

VDAC, 219–220, 220f as therapeutic targets in gliomas, 222–224

metabolic modulation-PDK, 222–223 microtubule-modulating drugs, 223 mitochondrial-mediated apoptosis, 223 prodrug cancer therapy, 224 PUFAs, 223–224 targeting of stress response to ROS, 224 tricyclic antidepressants, 223

class III β-tubulin associated with, 222 endoplasmic reticulum network, 221, 221f

Mitochondrial diseases and epilepsy

in autonomic dysfunction, 31–34 Mitochondrial disorders, 10

autonomic dysfunction in, 33–34 Mitochondrial dynamics

and microtubules, 220–221 Mitochondrial dysfunction

associated with calpain-3 gene mutations, 205

e6 Subject index

decreased very long-chain acyl-coa dehydrogenase

activity in calpain-3 knockout muscles denotes, 205

defective autophagy, 203 disease progression

in MS, 195f, 196–198 in X-ALD, 196f, 198–199

due to dysregulation of mitochondrial permeability transition pore, 203

effect of antiepileptic drugs on oxidative stress, 183–184 valproic acid, 181t, 182

genetic evidence of, 165–167 brain study, 166–167, 167t mitochondrial DNA gene defects, 165, 166t nuclear DNA gene defects, 165–166

in amyotrophic lateral sclerosis, 209–210 in autism, 163–175, 165f in centronuclear myopathies, 206 in CIPN, 211 in congenital muscular dystrophy, 203

pathogenetic considerations, 203 in core myopathies, 206 in demyelinating diseases, 194–201, 195f, 196f in diabetic neuropathy, 211 in drug-induced myopathies, 209 in Duchenne muscular dystrophy, 204

associated cardiac failure, 205 in epidermal melanocytes

in Duchenne muscular dystrophy, 205 in epilepsy, 176–187

effect of antiepileptic drugs on, 181t, 182–184, 183t pathogenetic mechanisms of, 179–181, 179f, 180f relationship of, 177–179, 177t, 178t therapeutic target, 184–185

in facioscapulohumeral muscular dystrophy, 205 in Friedreich ataxia, 211 in gliomas, 216–227

abnormal energy metabolism, 217 apoptotic signaling-mitochondrially mediated

apoptosis, 217–218 IDH mutations and oncometabolite 2-HG, 218–219 mitochondria and cytoskeleton coupling, 218 mitochondria DNA mutations, 218 mitochondrial p53 pathway, 219 mitochondrial structural abnormalities, 217 regulatory protein ANT2, 217

in hereditary inclusion body myopathy, 208 in hereditary peripheral neuropathies, 210–211 in inclusion body myositis, 207–208, 207f, 208f in limb-girdle muscular dystrophy, 205 in migraine, 188–193

biochemical evidence, 189–190 genetic evidence, 190–191 morphologic evidence, 190 therapeutic evidence, 191

in motor neuron disease, 209 in myotonic dystrophy, 205–206 in neuromuscular disorders, 202–215 in peripheral neuropathies, 210 in polymyositis with mitochondrial pathology, 208–209 in spinal muscular atrophy, 209 metabolic evidence of, 168–169

brain study, 168–169 peripheral study, 166t, 168, 169t

mutations in the choline kinase ß gene, 203–204 pathogenetic mechanisms of, 169–171

abnormal mitochondrial calcium handling, 170–171, 170f

abnormal mitochondrial oxidative stress, 170f, 171 mitochondrial activation of immune system, 169–170,

170f therapeutic target

correction of mitochondrial respiratory chain complex deficiencies, 184

ketogenic diet, 184f, 185 unified pathogenetic theory, 172–173

abnormal genetic regulation, 172 abnormal neuroimmune response, 170f, 172 abnormal purinergic signaling, 172, 172f therapeutic targets, 173

Mitochondrial toxicity associated with antiretroviral drugs in HIV/AIDS,

211–212 Motor measures, 84, 89–91, 95–99

activity and participation measures, 91, 92t–94t, 95 body function measures of neuromusculoskeletal and

movement-related functions, 85t–88t, 89–91 future directions in, 96

Motor neuron disease mitochondrial dysfunction in, 209

Motor therapy for cerebral palsy, 127–128, 131, 135, 137–138

cardiovascular fitness, 135, 136t lower extremity studies, 131, 132t–134t, 135 study discussion, 135, 137 study methods, 128 study results, 128, 131 upper extremity studies, 128, 129t–131t, 131

Motor-evoked potentials (MEPs), 109, 111–112, 112f MRI. see Magnetic resonance imaging (MRI) MRS. see Magnetic resonance spectroscopy (MRS) imaging MS. see Multiple sclerosis (MS) MSCs. see Mesenchymal stem cells (MSCs) MTR. see Magnetization transfer ratio (MTR) Multiple sclerosis (MS), 196–198, 196f Myelin, 194–195, 195f Myotonic dystrophy

mitochondrial dysfunction in, 205–206

N Near-infrared spectroscopy (NIRS), 68 Neural precursor cells (NPCs), 149 Neurocardiogenic syncope

prognosis of, 16 Neurodegenerative diseases, 237–238

Alzheimer disease, 237 amyotrophic lateral sclerosis, 238 Huntington disease, 238 Parkinson disease, 237–238

Neurofeedback practice, 258–260, 259t Neurologic conditions, 238–239

epilepsy, 238–239 metabolic disorders, 239

Neurologic disease, 236–241 Neuromuscular disorders

defective autophagy, 203 mitochondrial dysfunction in, 202–215 mutations in the choline kinase ß gene, 203–204

Neurotransmission disorders affecting, 7–9 (see also specific disorders)

Allgrove’s syndrome, 7–8 dopamine-beta-hydroxylase (DβH) deficiency, 7 Menkes disease, 8 norepinephrine transporter deficiency, 7

Neurotransmitters disorders affecting, 7–9 (see also specific disorders)

Allgrove’s syndrome, 7–8

Subject index e7

dopamine-beta-hydroxylase (DβH) deficiency, 7 Menkes disease, 8 norepinephrine transporter deficiency, 7

NIRS. see Near-infrared spectroscopy (NIRS) Norepinephrine transporter deficiency

affecting neurotransmitters and neurotransmission, 7 NPCs. see Neural precursor cells (NPCs) O OI syndrome. see Orthostatic intolerance (OI) syndrome Oligodendrocytes, 194–195, 195f Orthostatic intolerance (OI) syndrome, 19f, 20, 20t P Pain

channelopathy-associated insensitivity to, 10 with anhydrosis, congenital insensitivity to, 6–7

Paroxysmal extreme pain disorder, 10. see also Familial rectal pain syndrome

PDK. see Pyruvate dehydrogenase kinase (PDK) Pediatric autonomic disorders

gastrointestinal manifestations of, 27–30 laboratory evaluation of, 35, 36t, 37–43

Peripheral neuropathy mitochondrial dysfunction in, 210

Polymyositis with mitochondrial pathology

mitochondrial dysfunction in, 208–209 Polyunsaturated fatty acids (PUFAs), 223–224 Posttraumatic stress disorder (PTSD), 254–255 Postural orthostatic tachycardia syndrome (POTS), 28–30

clinical and diagnostic evaluations of, 19f, 22–23 clinical manifestations of, 19f, 21–22, 21t, 22t diagnostic criteria in, 20–21 nonpharmacologic treatment of, 23 pharmacologic treatment of, 23–24 treatment guidelines of, 23

Postural tachycardia syndrome in children and adolescents, 18–26 normal physiological orthostatic responses of, 18–20

POTS. see Postural orthostatic tachycardia syndrome (POTS)

Prader-Willi syndrome, 9 Preterm infants

brain development in, 65–74, 66f brain imaging techniques, 66–68

DTI, 66–67 EEG, 67 fMRI, 68 functional neuroimaging, 67 MEG, 67–68 MRS imaging, 67 MTR, 67, 67f neuroprotection, 70 NIRS, 68 structural MRI, 66

risk factors for adverse outcomes in, 69–70 distal factors, 69–70 early brain injury, 70 extremely early birth, 70 intemediate factors, 70 proximal variables, 70

Psychogenic syncope, 16–17 PTSD. see Posttraumatic stress disorder (PTSD) PUFAs. see Polyunsaturated fatty acids (PUFAs) Pulse wave velocity analysis (PWV), 42 Pupillometry, 40–41, 41f Pyruvate dehydrogenase kinase (PDK), 222–223

R Rapid-onset obesity, with hypothalamic dysfunction,

hypoventilation, and autonomic dysregulation (ROHHAD), 51

Reactive oxygen species (ROS), 224 Rett syndrome, 9 Robot-assisted rehabilitation system

for children with cerebral palsy, 139–145 arm and hand rehabilitation, 141–143, 143f future directions in, 143–144 virtual reality systems for lower extremities, 140–141,

141f, 142f ROHHAD. see Rapid-onset obesity, with hypothalamic

dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD)

ROS. see Reactive oxygen species (ROS) S SCP. see Slow cortical potential (SCP) SIDS. see Sudden infant death syndrome (SIDS) Situational syncope, 16 Slow cortical potential (SCP), 250–251, 252 Small fiber function

storage disorders affecting, 8–9 Sodium ion channels (Channelopathy)

disorders associated with, 9–10 Somatosensory-evoked potentials (SSEPs), 109 Spinal muscular atrophy

mitochondrial dysfunction in, 209 SSEPs. see Somatosensory-evoked potentials (SSEPs) Stem cells

adult stem cells, 149–150 MSCs, 149–150 NPCs, 149, 150f

in cerebral palsy, 146–153 mature cells, 150

peripheral glial cells, 150 pluripotent stem cells, 148–149

epigenetic variability, 149 ESCs, 148 fate restriction, 149 iPSCs, 148–149

Stillbirth and sudden unexpected death in childhood (SUDC), 51

Storage disorders affecting small fiber function, 8–9 (see also specific

disorders) Subcortical development

in neonates evidence from neuroimaging studies, 69

SUDC. see Stillbirth and sudden unexpected death in childhood (SUDC)

Sudden infant death syndrome (SIDS) and congenital central hypoventilation syndrome, 44–55 brain structural and functional deficits, 50–51 diagnosis and presentation of, 45–46 etiologic investigations of, 48

ANS genes in, 48 cardiac conduction system in, 49 genetics summary and significance, 49 serotonergic system genes in, 48 serotonin transporter gene, 48

inheritance, testing, and genetic counseling, 50 related disorders, 51

ROHHAD, 51 SUDC, 51

Sudden unexpected death in epilepsy (SUDEP) and autonomic nervous system, 32

e8 Subject index

SUDEP. see Sudden unexpected death in epilepsy (SUDEP) Sudomotor, 39–40

quantitative sudomotor axon reflex test (QSART), 39–40

thermoregulatory sweat test (TST), 40, 41f Syncope

clinical features of, 13–14 diagnostic evaluation of, 14, 14t, 15f epidemiology of, 12 etiology of, 12, 13t in children

clinical approach to, 12–17 tilt table testing, 14 treatment of, 15–16, 16t

T TDCS. see Transcranial direct current stimulation (TDCS) TMS. see Transcranial magnetic stimulation (TMS) Transcranial direct current stimulation (TDCS), 121 Transcranial magnetic stimulation (TMS), 109, 111–112,

112f, 119–120, 148 Tricyclic antidepressants, 223 U Ultradian rhythms

and infralow frequencies, 242–245, 243f Urologic, 42 V Vagus nerve stimulation (VNS)

and autonomic nervous system, 32 Vasomotor responses, 42 VDAC. see Voltage-dependent anion channels (VDAC) Very long-chain acyl-coa dehydrogenase

decreased activity in calpain-3 knockout muscles denotes mitochondrial dysfunction, 205

VNS. see Vagus nerve stimulation (VNS) Voltage-dependent anion channels (VDAC), 219–220

W Walking training

in children with cerebral palsy, 106–115 maturation of circuitry for, 107 pilot study, 108–113 study discussion, 113–114

feasibility of intensive training in young children, 113

feasibility of neurophysiological measures in young children, 114

improvements in gross motor function, 113–114 study methods

intervention, 108 measure of gross motor behavior, 108 measure of quality of walking, 108–109 measures of SSEPs from the leg, 109 measures of tendon reflexes in leg, 109 MEPs from TMS, 109 participants, 108, 108t

study results adherence to training schedule, 108t, 109–110, 109f gross motor outcome, 110, 110f MEPs from TMS, 111–112, 112f qualitative improvements in leg skills, 111 quality of treadmill walking, 110–111, 111f, 112f SSEP, 112, 113f tendon reflexes, 112–113, 113f

White matter disorders, 236–237 Alexander disease, 237 cerebral palsy, 237 leukodystrophies, 236–237 multiple sclerosis, 237

White-matter development in neonates

evidence from neuroimaging studies, 69

X X-ALD, 196f, 198–199. see X-linked adrenoleukodystrophy

(X-ALD)