2. It is our pleasure to dedicate this book to our spouses,
Phyllis Sher, Eileen Ashwal, and Thomas Rando, who made
it possible for us to spend the enormous amount of time
planning, reading, and editing that was necessary to bring
this text to fruition. It is impossible to adequately describe
the value of their encouragement and support.
No dedication of a book embracing this field would be
meaningful without a tribute to the courage and perserverance
of neurologically impaired children and their caretakers.
DEDICATION
3. Anthony A. Amato, MD
Associate Professor of Neurology, Harvard Medical School; Vice-
Chairman, Department of Neurology, Brigham and Women’s
Hospital, Boston, Massachusetts
Inflammatory Myopathies
Stephen Ashwal, MD
Distinguished Professor of Pediatrics and Chief of the Division of
Child Neurology, Loma Linda University School of Medicine,
Loma Linda, California
Pediatric Neuroimaging; Congenital Structural Defects;
Impairment of Consciousness and Coma; Hypoxic-Ischemic
Encephalopathy in Infants and Older Children; Determination
of Brain Death in Infants and Children; Neurologic
Manifestations of Rheumatic Disorders of Childhood;
Inflammatory Neuropathies; Neurologic Disorders Associated
with Gastrointestinal Diseases, Nutritional Deficiencies, and
Fluid-Electrolyte Disorders
James F. Bale, Jr., MD
Associate Chair and Professor, Department of Pediatrics,
University of Utah School of Medicine; Attending Physician,
Department of Pediatrics, Primary Children’s Medical Group,
Salt Lake City, Utah
Viral Infections of the Nervous System
Tallie Z. Baram, MD, PhD
Professor of Pediatrics, Anatomy/Neurobiology, and Neurology,
University of California, Irvine, School of Medicine, Irvine,
California
Myoclonus, Myoclonic Seizures, and Infantile Spasms
Richard J. Barohn, MD
Professor and Chair, Department of Neurology, University of
Kansas Medical Center and University of Kansas Hospital,
Kansas City, Kansas
Diseases of the Neuromuscular Junction
Mark L. Batshaw, MD
Associate Dean for Academic Affairs and Professor and Chair,
Department of Pediatrics, George Washington University School
of Medicine and Health Sciences; Chief Academic Officer,
Children’s National Medical Center, Washington, DC
Inborn Errors of Urea Synthesis
Samuel F. Berkovic, MD
Epilepsy Research Centre and Department of Medicine,
University of Melbourne, Melbourne; Director, Comprehensive
Epilepsy Program, Austin Health, Heidelberg, Victoria, Australia
Genetics of Epilepsy
Angela K. Birnbaum, PhD
Associate Professor of Experimental and Clinical Pharmacology,
College of Pharmacy, University of Minnesota, Minneapolis
Minnesota
Antiepileptic Drug Therapy in Children
Rose-Mary N. Boustany, MD
Professor of Pediatrics and Neurobiology, Duke University
Medical Center, Durham, North Carolina; Professor of Pediatrics
and Biochemistry and Head, Clinical and Basic Neuroscience,
American University of Beirut, Beirut, Lebanon
Degenerative Diseases Primarily of Gray Matter
Carol S. Camfield, MD
Professor, Department of Pediatrics, Dalhousie University Faculty
of Medicine; Pediatrician, IWK Health Centre, Halifax, Nova
Scotia, Canada
Pediatric Epilepsy: An Overview
Peter R. Camfield, MD
Professor, Department of Pediatrics, Dalhousie University Faculty
of Medicine; Pediatric Neurologist, IWK Health Centre, Halifax,
Nova Scotia, Canada
Pediatric Epilepsy: An Overview
Enrique Chaves-Carballo, MD
Clinical Professor, Departments of Pediatrics and History of
Medicine, Kansas University Medical Center, Kansas City,
Kansas
Syncope and Paroxysmal Disorders Other than Epilepsy
Claudia A. Chiriboga, MD, MPH
Associate Professor of Clinical Neurology and Pediatrics,
Columbia University College of Physicians and Surgeons;
Associate Attending Physician, Department of Neurology,
Columbia University Medical Center, New York, New York
Neurologic Complications of Immunization
Raymond W. M. Chun, MD
Professor Emeritus of Neurology and Pediatrics, University of
Wisconsin Medical School, Madison, Wisconsin
Interrelationships between Renal and Neurologic Diseases and
Therapies
Michael E. Cohen, MD
Professor of Neurology and Pediatrics, State University of NewYork
at Buffalo School of Medicine and Biomedical Sciences; Attending
Physician, Women and Children’s Hospital, Buffalo, NewYork
Tumors of the Brain and Spinal Cord, Including Leukemic
Involvement
Anne M. Connolly, MD
Associate Professor of Neurology and Pediatrics, Washington
University School of Medicine; Attending Physician, St. Louis
Children’s Hospital and Barnes Jewish Hospital, St. Louis, Missouri
Anterior Horn Cell and Cranial Motor Neuron Disease
Jeannine M. Conway, PharmD, BCPS
Assistant Professor, Experimental and Clinical Pharmacology,
College of Pharmacy, University of Minnesota, Minneapolis,
Minnesota
Antiepileptic Drug Therapy in Children
CONTRIBUTORS
4. David L. Coulter, MD
Associate Professor of Neurology, Harvard Medical School;
Attending Neurologist, Children’s Hospital Boston, Boston,
Massachusetts
Ethical Issues in Child Neurology
Tina M. Cowan, PhD
Associate Professor, Department of Pathology, Stanford
University School of Medicine; Director, Biochemical Genetics
Laboratory, Stanford University Medical Center, Stanford,
California
Aminoacidemias and Organic Acidemias
Natalie Z. Cvijanovich, MD
Clinical Assistant Professor, University of California, San
Francisco, School of Medicine, San Francisco; Associate
Physician, Critical Care, Children’s Hospital and Research Center
at Oakland, Oakland, California
Neonatal Brain Injury
Soma Das, PhD
Assistant Professor and Director, Clinical Molecular Genetics
Laboratory, Department of Human Genetics, Pritzker School of
Medicine at the University of Chicago, Chicago, Illinois
Introduction to Genetics
Maria Descartes, MD
Associate Professor, Department of Genetics and Department of
Pediatrics, University of Alabama School of Medicine; Attending
Physician, Children’s Hospital, Birmingham, Alabama
Chromosomes and Chromosomal Abnormalities
Gabrielle Aline deVeber, MD, MHSc
Associate Professor of Pediatrics, University of Toronto Faculty
of Medicine; Staff Neurologist and Director, Children’s Stroke
Program, The Hospital for Sick Children; Scientist, Population
Health Sciences and Brain and Behavior Programs, The Hospital
for Sick Children Research Institute, Toronto, Ontario, Canada
Cerebrovascular Disease
Darryl C. De Vivo, MD
Sidney Carter Professor of Neurology, Professor of Pediatrics,
and Director Emeritus, Pediatric Neurology Division, Columbia
University College of Physicians and Surgeons; Attending
Neurologist and Attending Pediatrician, Columbia University
Medical Center and New York–Presbyterian Hospital, New York,
New York
Mitochondrial Diseases
Salvatore DiMauro, MD
Lucy G. Moses Professor of Neurology, Columbia University
College of Physicians and Surgeons, New York, New York
Mitochondrial Diseases
William B. Dobyns, MD
Professor of Human Genetics, Neurology, and Pediatrics,
Pritzker School of Medicine at the University of Chicago,
Chicago, Illinois
Congenital Structural Defects; Introduction to Genetics
Qing Dong, MD, PhD
Adjunct Instructor, Department of Pediatrics, University of
California, San Francisco, School of Medicine; Attending
Physician, UCSF Children’s Hospital, San Francisco,
California
Endocrine Disorders of the Hypothalamus and Pituitary
Patricia K. Duffner, MD
Professor of Neurology and Pediatrics, State University of New
York at Buffalo School of Medicine and Biomedical Sciences;
Women and Children’s Hospital of Buffalo, Buffalo, New York
Tumors of the Brain and Spinal Cord, Including Leukemic
Involvement
Ann-Christine Duhaime, MD
Professor of Neurosurgery, Dartmouth Medical School, Hanover;
Director, Pediatric Neurosurgery, Children’s Hospital at Dartmouth,
Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire
Inflicted Childhood Neurotrauma
Adré J. du Plessis, MBChB, MPH
Associate Professor of Neurology, Harvard Medical School;
Senior Associate, Neurology, and Director, Fetal-Neonatal
Neurology, Children’s Hospital Boston, Boston, Massachusetts
Neurologic Disorders Associated with Cardiac Disease
Gregory M. Enns, MB, ChB
Assistant Professor of Pediatrics and Director, Biochemical Genetics
Program, Stanford University School of Medicine; Attending
Physician, Lucile Packard Children’s Hospital, Stanford, California
Aminoacidemias and Organic Acidemias
Diana M. Escolar, MD
Associate Professor of Neurology and Pediatrics, Department of
Neurology, George Washington University School of Medicine and
Health Sciences; Investigator, Research Center for Genetic Medicine,
and Director, Neuromuscular Program, Children’s National
Medical Center and Children’s Research Institute, Washington, DC
Muscular Dystrophies
Owen B. Evans, Jr., MD
Professor and Chairman, Department of Pediatrics, University of
Mississippi Medical Center, Jackson, Mississippi
Normal Muscle
Lydia Eviatar, MD
Professor of Neurology and Pediatrics, Albert Einstein College of
Medicine, Bronx; Chief Emeritus, Pediatric Neurology, Schneider
Children’s Hospital of Long Island Jewish Medical Center Health
System, New Hyde Park, New York
Vertigo
Donna M. Ferriero, MD
Professor, Departments of Neurology and Pediatrics; Division
Chief, Child Neurology; and Director, Neonatal Brain Disorders
Center, University of California, San Francisco, School of
Medicine, San Francisco, California
Pathophysiology of Neonatal Hypoxic-Ischemic Brain Injury;
Neonatal Brain Injury
Pauline A. Filipek, MD
Associate Professor of Clinical Pediatrics and Neurology,
University of California, Irvine, School of Medicine, Irvine;
Director, For OC Kids, University Children’s Hospital at UCI
Medical Center, Orange, California
Autistic Spectrum Disorders
Yitzchak Frank, MD
Professor of Clinical Neurology and Pediatrics, Mount Sinai
School of Medicine; Adjunct Professor of Neurology, New York
University School of Medicine; Pediatric Neurologist, Mount
Sinai Medical Center, New York, New York
Neurologic Disorders Associated with Gastrointestinal Diseases,
Nutritional Deficiencies, and Fluid-Electrolyte Disorders
Contributors vii
5. Douglas Fredrick, MD
Associate Professor of Clinical Ophthalmology and Pediatrics,
University of California, San Francisco, School of Medicine;
Director of Pediatric Ophthalmology, University of California,
San Francisco, Medical Center, San Francisco, California
Vision Loss
Hudson H. Freeze, PhD
Adjunct Professor of Medicine, University of California, San
Diego, School of Medicine; Professor and Director, Glycobiology
and Carbohydrate Chemistry Program, The Burnham Institute, La
Jolla, California
Disorders of Glycosylation
Bhuwan P. Garg, MB, BS
Professor of Neurology, Indiana University School of Medicine;
Department of Child Neurology, James Whitcomb Riley Hospital
for Children, Indianapolis, Indiana
Disorders of Micturition and Defecation; Poisoning and Drug-
Induced Neurologic Diseases
Elizabeth E. Gilles, MD
Assistant Professor of Pediatrics and Neurology, University of
Minnesota Medical School, Minneapolis; Staff Child Neurologist,
Gillette Children’s Specialty Healthcare, St. Paul, Minnesota
Inflicted Childhood Neurotrauma
Christopher C. Giza, MD
Assistant Professor, Divisions of Neurosurgery and Pediatric
Neurology, David Geffen School of Medicine at UCLA, Los
Angeles, California
Traumatic Brain Injury in Children
Carol A. Glaser, DVM, MD
Associate Clinical Professor of Pediatrics, University of
California, San Francisco, School of Medicine, San Francisco;
Chief, Viral and Rickettsial Disease Laboratory, California
Department of Health Services, Richmond, California
Fungal, Rickettsial, and Parasitic Diseases of the Nervous System
Joseph G. Gleeson, MD
Associate Professor of Neurosciences, University of California,
San Diego, School of Medicine, La Jolla; Attending Physician,
Children’s Hospital and Health Center, San Diego, California
Congenital Structural Defects
Meredith Rose Golomb, MD, MSc
Assistant Professor, Indiana University School of Medicine;
Attending Physician, Riley Hospital for Children, Indianapolis,
Indiana
Neonatal Brain Injury
Cecil D. Hahn, MD, MPH
Instructor, Department of Neurology, Harvard Medical School;
Staff Physician, Department of Neurology, Children’s Hospital
Boston, Boston, Massachusetts
Neurologic Disorders Associated with Cardiac Disease
Chellamani Harini, MD
Fellow in Epilepsy and Clinical Neurophysiology, Children’s
Hospital Boston, Boston, Massachusetts
Spinal Cord Injury
Alan Hill, MD, PhD
Professor, Department of Pediatrics, Division of Neurology,
University of British Columbia Faculty of Medicine; Division of
Neurology, British Columbia Children’s Hospital, Vancouver,
British Columbia, Canada
Hypoxic-Ischemic Cerebral Injury in the Newborn
Deborah G. Hirtz, MD
Program Director, Clinical Trials, National Institute of
Neurological Disorders and Stroke, National Institutes of Health,
Bethesda, Maryland
Autistic Spectrum Disorders
Gregory L. Holmes, MD
Professor of Medicine (Neurology) and Pediatrics, Dartmouth
Medical School, Hanover; Chief, Section of Neurology,
Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire
Generalized Seizures
Barbara A. Holshouser, PhD
Associate Professor of Radiology, Loma Linda University School
of Medicine; Medical Physicist, Department of Radiology, Loma
Linda University Medical Center, Loma Linda, California
Pediatric Neuroimaging
Susan T. Iannaccone, MD
Jimmy and Elizabeth Wescott Distinguished Chair in Pediatric
Neurology and Professor of Neurology and Pediatrics, University
of Texas Southwestern Medical Center at Dallas; Director of
Child Neurology, Children’s Medical Center; Director of
Neuromuscular Disease and Neurorehabilitation, Texas Scottish
Rite Hospital for Children, Dallas, Texas
Anterior Horn Cell and Cranial Motor Neuron Disease
Rebecca N. Ichord, MD
Assistant Professor, Departments of Neurology and Pediatrics,
University of Pennsylvania School of Medicine; Attending
Physician, Department of Neurology, Children’s Hospital of
Philadelphia, Philadelphia, Pennsylvania
Perinatal Metabolic Encephalopathies
Edward M. Kaye, MD
Consulting Neurologist, Children’s Hospital Boston, Boston; Vice
President for Clinical Research, Genzyme Corporation,
Cambridge, Massachusetts
Disorders Primarily of White Matter
John T. Kissel, MD
Professor and Interim Chair, Department of Neurology, The Ohio
State University, Columbus, Ohio
Inflammatory Myopathies
Ophir Klein, MD, PhD
Clinical Fellow, Division of Genetics, Department of Pediatrics,
University of California, San Francisco, School of Medicine,
San Francisco, California
Aminoacidemias and Organic Acidemias
Edwin H. Kolodny, MD
Bernard A. and Charlotte Marden Professor and Chairman,
Department of Neurology, New York University School of
Medicine; Director, Department of Neurology, New York Medical
Center, New York, New York
Lysosomal Storage Diseases
viii Contributors
6. Bruce R. Korf, MD, PhD
Wayne H. and Sara Crews Finley Professor of Medical Genetics
and Chair, Department of Genetics, University of Alabama at
Birmingham School of Medicine, Birmingham, Alabama
Chromosomes and Chromosomal Abnormalities; Phakomatoses
and Allied Conditions
Suresh Kotagal, MD
Professor, Department of Neurology, Mayo Clinic College of
Medicine; Chair, Division of Child Neurology, and Consultant,
Department of Child Neurology, Mayo Clinic, Rochester,
Minnesota
Sleep-Wake Disorders; Increased Intracranial Pressure
Robert L. Kriel, MD
Professor, Departments of Neurology, Pediatrics, and College of
Pharmacy, University of Minnesota Medical School; Pediatric
Neurologist, Hennepin County Medical Center, Minneapolis,
Minnesota
Antiepileptic Drug Therapy in Children
Steven M. Leber, MD, PhD
Professor of Pediatrics and Neurology, University of Michigan
Medical School and C. S. Mott Children’s Hospital, Ann Arbor,
Michigan
The Internet and Its Resources for the Child Neurologist
Melissa Lee, MD
Assistant Professor, Department of Psychiatry and Behavioral
Sciences, Johns Hopkins University School of Medicine,
Baltimore, Maryland
Neuropsychopharmacology
Robert T. Leshner, MD
Professor of Neurology and Pediatrics, George Washington
University School of Medicine and Health Sciences; Attending
Neurologist, Center for Genetic Medicine, Department of
Neurology, Children’s National Medical Center, Washington,
DC
Muscular Dystrophies
Donald W. Lewis, MD
Professor of Pediatrics and Neurology, Eastern Virginia Medical
School; Pediatric Neurologist, Children’s Hospital of the King’s
Daughters, Norfolk, Virginia
Headaches in Infants and Children
Paul F. Lewis, MD
Associate Professor of Pediatrics, Oregon Health and Science
University; Public Health Physician, Acute and Communicable
Disease Program, Oregon Department of Human Services,
Portland, Oregon
Fungal, Rickettsial, and Parasitic Diseases of the Nervous System
Uta Lichter-Konecki, MD, PhD
Assistant Professor of Pediatrics, George Washington University
School of Medicine and Health Sciences; Assistant Professor of
Pediatrics, Children’s Research Institute, Children’s National
Medical Center, Washington, DC
Inborn Errors of Urea Synthesis
Kenneth J. Mack, MD, PhD
Associate Professor of Neurology, Mayo Clinic, Rochester,
Minnesota
The Internet and Its Resources for the Child Neurologist
David E. Mandelbaum, MD, PhD
Professor of Clinical Neurosciences and Pediatrics, Brown
Medical School; Director, Division of Child Neurology,
Rhode Island and Hasbro Children’s Hospitals, Providence,
Rhode Island
Attention-Deficit–Hyperactivity Disorder
Stephen M. Maricich, PhD, MD
Fellow, Baylor College of Medicine; Fellow, Texas Children’s
Hospital, Houston, Texas
The Cerebellum and the Hereditary Ataxias
Christopher J. Mathias, DPhil, DSc
Professor of Neurovascular Medicine, National Hospital for
Neurology and Neurosurgery, University College London;
Professor of Neurovascular Medicine, Imperial College London at
St. Mary’s Hospital, London, United Kingdom
Disorders of the Autonomic Nervous System: Autonomic
Dysfunction in Pediatric Practice
Claire McLean, MD
Assistant Professor of Pediatrics, Keck School of Medicine of
University of Southern California; Attending Physician,
Children’s Hospital of Los Angeles, Los Angeles, California
Pathophysiology of Neonatal Hypoxic-Ischemic Brain Injury
Julie A. Mennella, PhD
Member and Director of Education Outreach, Monell Chemical
Senses Center, Philadelphia, Pennsylvania
Taste and Smell
Laura R. Ment, MD
Professor, Departments of Pediatrics and Neurology, Yale
University School of Medicine; Attending Physician,
Yale–New Haven Hospital, New Haven, Connecticut
Intraventricular Hemorrhage of the Preterm Neonate
David J. Michelson, MD
Assistant Professor of Child Neurology, Loma Linda University
School of Medicine, Loma Linda, California
Spinal Fluid Examination; Cognitive and Motor Regression
Jonathan W. Mink, MD, PhD
Associate Professor of Neurology, Neurobiology and Anatomy,
and Pediatrics, University of Rochester Medical Center School of
Medicine and Dentistry; Chief, Child Neurology, Golisano
Children’s Hospital at Strong Memorial Hospital, Rochester,
New York
Movement Disorders
Wendy G. Mitchell, MD
Professor of Neurology and Pediatrics, Keck School of Medicine
of the University of Southern California; Director, Child
Neurology Training Program, Children’s Hospital of Los Angeles,
Los Angeles, California
Behavioral, Cognitive, and Social Aspects of Childhood Epilepsy
Eli M. Mizrahi, MD
Head, Peter Kellaway Section of Neurophysiology;
Vice-Chairman, Department of Neurology; and Professor of
Neurology and Pediatrics, Baylor College of Medicine; Chief,
Neurophysiology Service, Methodist Hospital and St. Luke’s
Episcopal Hospital; Chief, Clinical Neurophysiology Laboratory
Services, Texas Children’s Hospital, Houston, Texas
Neonatal Seizures
Contributors ix
7. Lawrence D. Morton, MD
Associate Professor of Neurology and Pediatrics, Medical
College of Virginia Campus of Virginia Commonwealth
University School of Medicine; Director, Clinical
Neurophysiology, Virginia Commonwealth University Health
Systems, Richmond, Virginia
Status Epilepticus
Hugo W. Moser, MD
Professor, Departments of Neurology and Pediatrics, Johns
Hopkins University School of Medicine; Director, Neurogenetics
Research Center, Kennedy Krieger Institute, Baltimore, Maryland
Peroxisomal Disorders
Richard T. Moxley III, MD
Professor of Neurology and Pediatrics, University of Rochester
Medical Center School of Medicine and Dentistry; Director,
Neuromuscular Disease Center, University of Rochester Medical
Center, Rochester, New York
Chanellopathies: Myotonic Disorders and Periodic Paralysis
SakkuBai Naidu, MD
Professor, Department of Neurology, Johns Hopkins University
School of Medicine; Director, Neurogenetics Unit, Kennedy
Krieger Institute, Baltimore, Maryland
Peroxisomal Disorders
Ruth Nass, MD
Professor of Clinical Neurology, New York University School of
Medicine, New York, New York
Developmental Language Disorders
Douglas R. Nordli, Jr., MD
Associate Professor of Pediatrics and Neurology, Feinberg School
of Medicine, Northwestern University; Lorna S. and James P.
Langdon Chair of Pediatric Epilepsy, Children’s Memorial
Hospital, Chicago, Illinois
Focal and Multifocal Seizures
Robert Ouvrier, MD
Petre Foundation Professor of Paediatric Neurology, Department
of Paediatrics, University of Sydney, Sydney; Attending
Physician, Children’s Hospital at Westmead, Westmead, New
South Wales, Australia
Peripheral Neuropathies
Seymour Packman, MD
Professor, Department of Pediatrics, and Director, Biochemical
Genetics Service and Neurometabolic Program and Clinics,
University of California, San Francisco, School of Medicine, San
Francisco, California
Aminoacidemias and Organic Acidemias
John Colin Partridge, MD, MPH
Clinical Professor, Department of Pediatrics, University of
California, San Francisco, School of Medicine; Attending
Neonatologist, University of California, San Francisco, Medical
Center and San Francisco General Hospital, San Francisco,
California
Pain Management and Palliative Care
Gregory M. Pastores, MD
Associate Professor of Neurology and Pediatrics, New York
University School of Medicine; Director, Neurogenetics
Laboratory, New York University Medical Center, New York,
New York
Lysosomal Storage Diseases
Marc C. Patterson, MD
Professor and Head, Division of Pediatric Neurology,
Departments of Neurology and Pediatrics, Columbia University
College of Physicians and Surgeons; Director of Pediatric
Neurology, Morgan Stanley Children’s Hospital of New
York–Presbyterian, New York, New York
Diseases Associated with Primary Abnormalities in Carbohydrate
Metabolism; Disorders of Glycosylation
John M. Pellock, MD
Professor and Chairman, Division of Child Neurology, and Vice
Chairman, Department of Neurology, Medical College of Virginia
Campus of Virginia Commonwealth University School of
Medicine, Richmond, Virginia
Status Epilepticus
Ronald M. Perkin, MD, MA
Professor and Chairman, Department of Pediatrics, Brody School of
Medicine at East Carolina University; Medical Director, Children’s
Hospital of Eastern North Carolina; Chief of Pediatrics, Pitt County
Memorial Hospital, Greenville, North Carolina
Hypoxic-Ischemic Encephalopathy in Infants and Older Children
Lauren Plawner, MD
Assistant Clinical Professor, Departments of Pediatrics and
Neurology, University of California, San Francisco, School of
Medicine; Pediatric Neurologist, Department of Pediatrics, Kaiser
Permanente Medical Center, San Francisco, California
Congenital Structural Defects
Isabelle Rapin, MD
Professor of Neurology and Pediatrics, Albert Einstein College of
Medicine; Attending Neurologist and Child Neurologist, Jacobi
Medical Center and Montefiore Medical Center, Bronx, New York
Hearing Impairment
Gerald V. Raymond, MD
Associate Professor, Department of Neurology, Johns Hopkins
University School of Medicine; Neurologist, Neurogenetics
Research Center, Kennedy Krieger Institute, Baltimore, Maryland
Peroxisomal Disorders
Jong M. Rho, MD
Associate Professor of Clinical Neurology, University of Arizona
College of Medicine, Tucson; Associate Director of Child
Neurology, Children’s Health Center, St. Joseph’s Hospital and
Medical Center, Phoenix; Director of Pediatric Epilepsy
Research, Barrow Neurological Institute, Phoenix, Arizona
Neurophysiology of Epilepsy
Sarah M. Roddy, MD
Associate Professor of Pediatrics and Neurology, Loma Linda
University School of Medicine; Attending Physician, Loma Linda
University Children’s Hospital, Loma Linda, California
Breath-Holding Spells and Reflex Anoxic Seizures
Stephen M. Rosenthal, MD
Professor of Pediatrics, University of California, San Francisco,
School of Medicine, San Francisco, California
Endocrine Disorders of the Hypothalamus and Pituitary
N. Paul Rosman, MD
Professor of Pediatrics and Neurology, Boston University School
of Medicine; Pediatric Neurologist, Boston Medical Center,
Boston, Massachusetts
Spinal Cord Injury
x Contributors
8. Robert S. Rust, MD, MA
Worrell Professor of Epileptology and Neurology and Professor
of Pediatrics, University of Virginia School of Medicine,
Charlottesville, Virginia
Interrelationships between Renal and Neurologic Diseases and
Therapies
Terence D. Sanger, MD, PhD
Assistant Professor, Stanford University School of Medicine;
Division of Child Neurology, Lucile Packard Children’s Hospital,
Stanford, California
Movement Disorders
Urs B. Schaad, MD
Professor of Pediatrics, University of Basel; Medical Director and
Chairman, Department of Pediatrics, University Children’s
Hospital, Basel, Switzerland
Bacterial Infections of the Nervous System
Ingrid E. Scheffer, MBBS, PhD
Professor, Department of Medicine and Paediatrics, University of
Melbourne, Melbourne; Paediatric Neurologist, Austin Health,
Heidelberg; Paediatric Neurologist, Monash Medical Centre,
Clayton, Victoria, Australia
Genetics of Epilepsy
Mark S. Scher, MD
Professor of Pediatrics, Case Western Reserve University School
of Medicine; Division Chief, Pediatric Neurology, and Director of
Pediatric Sleep/Epilepsy and Fetal Neonatal Neurology Programs,
Rainbow Babies and Children’s Hospital and University Hospitals
of Cleveland, Cleveland, Ohio
Pediatric Neurophysiologic Evaluation
Nina Felice Schor, MD, PhD
Professor of Pediatrics, Neurology, and Pharmacology; Chief,
Division of Child Neurology; Associate Dean for Medical
Student Research, University of Pittsburgh School of Medicine;
Carol Ann Craumer Chair of Pediatric Research and Director,
Pediatric Center for Neuroscience, Children’s Hospital of
Pittsburgh, Pittsburgh, Pennsylvania
Neurologic Manifestations of Rheumatic Disorders of
Childhood
Frederick L. Schuster, PhD
Viral and Rickettsial Disease Laboratory, California Department
of Health Services, Richmond, California
Fungal, Rickettsial, and Parasitic Diseases of the Nervous System
Bennett A. Shaywitz, MD
Professor of Pediatrics and Neurology, Yale University School of
Medicine, New Haven, Connecticut
Dyslexia
Sally E. Shaywitz, MD
Professor of Pediatrics, Yale University School of Medicine,
New Haven, Connecticut
Dyslexia
Robert Sheets, MD
Assistant Clinical Professor of Pediatrics, University of
California, San Diego, School of Medicine, La Jolla; Pediatric
Rheumatologist, Children’s Hospital of San Diego, San Diego,
California
Neurologic Manifestations of Rheumatic Disorders of
Childhood
Elliott H. Sherr, MD, PhD
Assistant Professor of Neurology, University of California, San
Francisco, School of Medicine; Attending Physician, UCSF
Children’s Hospital, San Francisco, California
Mental Retardation and Global Developmental Delay
Michael I. Shevell, MD
Professor, Departments of Neurology/Neurosurgery and
Pediatrics, McGill University Faculty of Medicine; Division of
Pediatric Neurology, Montreal Children’s Hospital–McGill
University Health Centre, Montreal, Quebec, Canada
Mental Retardation and Global Developmental Delay
Shlomo Shinnar, MD, PhD
Professor of Neurology and Pediatrics and Hyman Climenko
Professor of Neuroscience Research, Albert Einstein College of
Medicine; Director, Comprehensive Epilepsy Management
Center, Montefiore Medical Center, Bronx, New York
Febrile Seizures
Stanford K. Shu, MD
Assistant Professor of Child Neurology, Loma Linda University
School of Medicine, Loma Linda, California
Cognitive and Motor Regression
Faye S. Silverstein, MD
Professor of Pediatrics and Neurology, University of Michigan
Medical School, Ann Arbor, Michigan
Pathophysiology of Neonatal Hypoxic-Ischemic Brain Injury
Harvey S. Singer, MD
Haller Professor of Pediatric Neurology, Johns Hopkins
University School of Medicine; Director, Child Neurology,
Johns Hopkins Hospital, Baltimore, Maryland
Tourette Syndrome and Its Associated Neurobehavioral Problems
John T. Sladky, MD
Professor of Pediatrics and Neurology, Emory University School
of Medicine; Division Chief, Child Neurology, Children’s
Healthcare of Atlanta; Division Chief, Child Neurology, Grady
Health System, Atlanta, Georgia
Inflammatory Neuropathies
Stephen A. Smith, MD
Director, Neuromuscular Laboratory, Department of Pathology,
Hennepin County Medical Center, Minneapolis, Minnesota;
Director, Neuromuscular Program, Department of Neurology,
Gillette Children’s Specialty Healthcare, St. Paul, Minnesota;
Director, Neuromuscular Laboratory, Department of Pathology,
Parkview Hospital, Pueblo, Colorado
Peripheral Neuropathies
Carl E. Stafstrom, MD, PhD
Professor of Neurology and Pediatrics, University of Wisconsin
Medical School; Chief, Section of Pediatric Neurology,
University of Wisconsin Hospital, Madison, Wisconsin
Neurophysiology of Epilepsy
Jonathan B. Strober, MD
Assistant Clinical Professor of Neurology and Pediatrics,
University of California, San Francisco, School of Medicine,
San Francisco, California
Congenital Myopathies
Contributors xi
9. Kenneth F. Swaiman, MD
Director Emeritus, Division of Pediatric Neurology, and Professor
Emeritus of Neurology and Pediatrics, University of Minnesota
Medical School, Minneapolis, Minnesota
General Aspects of the Patient’s Neurologic History; Neurologic
Examination of the Older Child; Neurologic Examination after
the Newborn Period until 2 Years of Age; Neurologic
Examination of the Term and Preterm Infant; Muscular Tone
and Gait Disturbances; Cerebral Palsy; Diseases Associated
with Primary Abnormalities in Carbohydrate Metabolism
Kathryn J. Swoboda, MD
Associate Professor of Neurology and Adjunct Associate
Professor of Pediatrics, University of Utah School of Medicine,
Salt Lake City, Utah
Diagnosis and Treatment of Neurotransmitter-Related Disorders
Ilona S. Szer, MD
Professor of Clinical Pediatrics, University of California, San
Diego, School of Medicine, La Jolla; Director, Pediatric
Rheumatology, Children’s Hospital of San Diego, San Diego,
California
Neurologic Manifestations of Rheumatic Disorders of Childhood
Martin G. Täuber, MD
Professor and Co-Director, Institute for Infectious Diseases,
University of Bern; Director, Clinic and Policlinic for Infectious
Diseases, University Hospital Insel, Bern, Switzerland
Bacterial Infections of the Nervous System
Rabi Tawil, MD
Associate Professor of Neurology, Pathology, and Laboratory
Medicine, University of Rochester Medical Center School of
Medicine and Dentistry; Co-Director; Neuromuscular Disease
Clinic, University of Rochester Medical Center, Rochester, New
York
Chanellopathies: Myotonic Disorders and Periodic Paralysis
Donald A. Taylor, MD
Director of Pediatric Clinical Neurophysiology, St. Mary’s
Hospital, Richmond, Virginia
Impairment of Consciousness and Coma
Ingrid Tein, MD, BSc
Associate Professor of Pediatrics, Laboratory Medicine, and
Pathobiology, University of Toronto Faculty of Medicine;
Director, Neurometabolic Clinic and Research Laboratory, and
Senior Scientist, The Research Institute, The Hospital for Sick
Children, Toronto, Ontario, Canada
Metabolic Myopathies
Elizabeth A. Thiele, MD, PhD
Associate Professor of Neurology, Harvard Medical School;
Director, Carol and James Herscot Center for Tuberous Sclerosis
Complex, Massachusetts General Hospital, Boston,
Massachusetts
Phakomatoses and Allied Conditions
Joseph R. Thompson, MD
Professor of Radiology, Loma Linda University School of
Medicine; Pediatric Neuroradiologist, Department of Radiology,
Loma Linda University Medical Center, Loma Linda, California
Pediatric Neuroimaging
Ann H. Tilton, MD
Professor and Section Chair of Child Neurology, Louisiana State
University Health Sciences Center; Co-Director of Rehabilitation,
Child Neurology, Children’s Hospital of New Orleans, New
Orleans, Louisiana
Pediatric Neurorehabilitation Medicine
Doris A. Trauner, MD
Professor and Chief of Pediatric Neurology, University of
California, San Diego, School of Medicine, La Jolla, California
Developmental Language Disorders
Mendel Tuchman, MD
Professor of Pediatrics, Biochemistry, and Molecular Biology,
George Washington University School of Medicine and Health
Sciences; Vice Chair for Research and Scientific Director,
Children’s Research Institute, Children’s National Medical
Center, Washington, DC
Inborn Errors of Urea Synthesis
Roberto Tuchman, MD
Associate Professor of Neurology, University of Miami Miller
School of Medicine, Miami; Director, Developmental and
Behavioral Neurology, Miami Children’s Hospital Dan Marino
Center, Weston, Florida
Epileptiform Disorders with Cognitive Systems
Marjo S. van der Knaap, MD, PhD
Professor of Child Neurology, University Medical Center,
Amsterdam, The Netherlands
Disorders Primarily of White Matter
Michèle Van Hirtum-Das, MD
Resident, Child Neurology, Children’s Hospital of Los Angeles,
Los Angeles, California
Behavioral, Cognitive, and Social Aspects of Childhood Epilepsy
V. Venkataraman Vedanarayanan, MD
Professor of Neurology and Professor of Pediatrics, University of
Mississippi School of Medicine; Attending Physician, University
of Mississippi Medical Center, Jackson, Mississippi
Normal Muscle
Ann Wagner, PhD
Chief, Neurodevelopmental Disorders Branch, Division of
Pediatric Translational Research and Treatment Development,
National Institute of Mental Health, National Institutes of Health,
Bethesda, Maryland
Autistic Spectrum Disorders
John T. Walkup, MD
Associate Professor, Department of Psychiatry and Behavioral
Sciences, Johns Hopkins University School of Medicine; Deputy
Director, Division of Child and Adolescent Psychiatry, Johns
Hopkins Hospital, Baltimore, Maryland
Neuropsychopharmacology
Laurence E. Walsh, MD
Assistant Professor of Clinical Neurology and Medical and
Molecular Genetics, Indiana University School of Medicine;
Director, Section of Child Neurology, James Whitcomb Riley
Hospital for Children, Indianapolis, Indiana
Poisoning and Drug-Induced Neurologic Diseases
xii Contributors
10. Maria B. Weimer, MD
Assistant Professor of Clinical Neurology, Louisiana State
University Health Sciences Center; Staff Child Neurologist,
Children’s Hospital, New Orleans, Louisiana
Pediatric Neurorehabilitation Medicine
James W. Wheless, MD
Professor of Neurology and Pediatrics and Director, Texas
Comprehensive Epilepsy Program, University of Texas Health
Science Center at Houston–Medical School; Director, Epilepsy
Monitoring Unit, and Director, EEG and Clinical
Neurophysiology, Memorial Hermann and Memorial Hermann
Children’s Hospitals, Houston, Texas
The Ketogenic Diet
Gil I. Wolfe, MD
Dr. Bob and Jean Smith Foundation Distinguished Chair in
Neuromuscular Disease Research and Associate Professor,
Department of Neurology, University of Texas Southwestern
Medical Center, Dallas, Texas
Diseases of the Neuromuscular Junction
Yvonne Wu, MD, MPH
Assistant Professor, Departments of Neurology and Pediatrics,
University of California, San Francisco, School of Medicine,
San Francisco, California
Cerebral Palsy
Nathaniel D. Wycliffe, MD
Assistant Professor of Radiology, Loma Linda University School
of Medicine; Neuroradiologist and Director of Head and Neck
Radiology, Department of Radiology, Loma Linda University
Medical Center, Loma Linda, California
Pediatric Neuroimaging
Huda Y. Zoghbi, MD
Professor of Pediatrics, Molecular and Human Genetics,
Neurology, and Neuroscience, Baylor College of Medicine;
Investigator, Howard Hughes Medical Institute, Houston,
Texas
The Cerebellum and the Hereditary Ataxias
Adam Zucker, MD
Duke University Medical Center, Durham, North Carolina
Degenerative Diseases Primarily of Gray Matter
Mary L. Zupanc, MD
Professor, Departments of Neurology and Pediatrics, Medical
College of Wisconsin; Director Comprehensive Epilepsy
Center, Children’s Hospital of Wisconsin, Milwaukee,
Wisconsin
Epilepsy Surgery in the Pediatric Population
Contributors xiii
11. S
ince publication in 1999 of the third edition of Pediatric
Neurology: Principles & Practice, the discipline of
child neurology has progressed and reached new levels
of complexity. Advances in molecular biology and neuro-
imaging have fueled an explosion of knowledge that has
translated into a richer understanding of nervous system
development and function. Researchers and clinicians alike
believe that, during the next decade, novel and targeted
treatments will be the product of such fundamental advances
in knowledge. Successful treatment of children with both
common and rare neurologic disorders will be a reality.
This fourth edition reflects the enormous growth and
intricacy of the basic and clinical neurosciences. The entire
text has been revised and reorganized. There are many new
chapters that reflect areas of child neurology that are becom-
ing increasingly relevant clinically (e.g., neurogenetics, neuro-
psychopharmacology, neurorehabilitation, ethics), as well as
new chapters on diseases that were previously unrecognized
(e.g., PNTD, CDG). Many chapters have new authors who
bring to these discussions new insights into disease mech-
anisms. Also, the two senior editors are extremely fortunate
to have Donna M. Ferriero join us to provide her expertise
to ensure maintenance of the quality of this publication.
The two volumes are divided into 16 parts, encompassing
95 chapters as outlined in the table of contents. Parts I and
II contain information regarding selected aspects of the
pediatric neurologic examination in a general sense, as well
as the different motor and sensory systems, and these dis-
cussions are followed by a comprehensive review of the per-
tinent neurodiagnostic testing procedures and their clinical
application. Part III covers important aspects of neonatal
neurology and the long-term sequelae of acquired and
developmental abnormalities that can result in chronic dis-
orders, such as cerebral palsy, developmental delay, and
epilepsy. Part IV documents the vast array of genetic and
neurometabolic disorders that occur in infants and children;
this section also provides many of the fundamental concepts
of molecular biology and neurochemistry that constitute the
scientific basis of these diseases. Part V describes the major
neurobehavioral disorders of childhood and includes
chapters on autism and the neuropsychiatric problems that
accompany Tourette syndrome and a new chapter on neuro-
psychopharmacology. Part VI focuses on pediatric epilepsy
and contains new chapters on the neurophysiology and neuro-
genetics of pediatric epilepsy. Also included are chapters on
the various types of pediatric epilepsy, epileptiform dis-
orders with cognitive symptomatology, the ketogenic diet,
surgical treatment, and the learning and behavioral problems
associated with epilepsy.
The second volume encompasses many of the serious and
complex central and peripheral nervous system diseases that
confront child neurologists and allied health professionals.
Part VII reviews the nonepileptiform paroxysmal disorders,
including headache, syncope, and sleep disorders. Parts VIII
and IX deal with conditions that are degenerative in nature
and cause severe loss of motor and mental function. These
conditions include gray and white matter diseases that can
cause ataxia, movement disorders, progressive spasticity,
and dementia. Part X contains chapters on traumatic and non-
traumatic brain injury in infants and older children. Because
neurologists are frequently asked to provide consultation
for many of these conditions, chapters on disorders of con-
sciousness, nonaccidental trauma, anoxic brain injury, and
traumatic brain and spinal cord injury are included, as well
as a current review of the issues related to brain death deter-
mination. Parts XI (infection) and XII (tumors and cerebro-
vascular and vasculitic diseases) extensively cover the major
diseases that directly or indirectly cause serious neurologic
symptoms and are presented primarily from a clinical per-
spective. The neuromuscular diseases are reviewed in Part
XIII, which contains chapters on the classic neuromuscular
disorders including the anterior horn cell diseases, disorders
of the peripheral nervous system, neuromuscular junction,
inflammatory neuropathies, metabolic myopathies, and chan-
nelopathies. Parts XIV and XV include important chapters
that review many pediatric systemic (e.g., endocrine, renal,
cardiac, gastrointestinal) conditions that are known to cause
neurologic symptoms, as well as chapters on poisonings, com-
plications of immunizations, and autonomic nervous system
disorders. This volume concludes with Part XVI, which has
been revised extensively and includes new and revised
chapters on pediatric neurorehabilitation, pain and palliative
care management, ethical issues in child neurology, and an
update on the Internet as it relates to child neurology.
We hope that the reader will find this book a useful
resource and that the information will benefit the many
children who suffer from these conditions. It is our wish
that the greater world community will increase support for
the care of neurologically impaired children and the
research necessary to provide further understanding of
neurologic diseases. This support is necessary to facilitate
discovery of new therapies that will improve the sur-
vival and quality of life of these unfortunate and brave
children.
Kenneth F. Swaiman
Stephen Ashwal
Donna M. Ferriero
PREFACE TO THE FOURTH EDITION
12. I
t is concurrently tiring, humiliating, and intellectually
revitalizing to compile a book containing the essence of
the information that embraces one’s life work and pro-
fessional preoccupation. For me, there is a certain moth-
to-the-flame phenomenon that cannot be resisted; therefore
this new book has been produced.
Pediatric neurology has come of age since my initial
interest and subsequent immersion in the field. Concentrated
attention to the details of brain development and function
has brought much progress and understanding. Studies of
disease processes by dedicated and intelligent individuals
accompanied by a cascade of new technology (e.g., neuro-
imaging techniques, positron emission tomography, DNA
probes, synthesis of gene products, sophisticated lipid chem-
istry) have propelled the field forward. The simultaneous
increase of knowledge and capability of pediatric neurologists
and others who diagnose and treat children with nervous
system dysfunction has been extremely gratifying.
Although once within the realm of honest delusion of a
seemingly sane (but unrealistic) devotee of the field, it is no
longer possible to believe that a single individual can fathom,
much less explore, the innumerable rivulets that coalesce to
form the river of knowledge that currently is pediatric neurol-
ogy. Streams of information in certain areas sometimes
peacefully meander for years; suddenly, when knowledge of
previously obscure areas is advanced and the newly gained
information becomes central to understanding basic patho-
physiologic entities, a once small stream gains momentum
and abruptly flows with torrential force.
This text is an attempt to gather the most important
aspects of current pediatric neurology and display them in a
comprehensible manner. The task, although consuming
great energies and concentration, cannot be accomplished
completely because new conditions are described daily.
The advancement of the field necessitated that prepara-
tion of this text keep pace with current knowledge and
present new and valuable techniques. My colleagues and
I have made every effort to discharge this responsibility.
Because of continuous scientific progress, controversies are
extant in some areas for varying periods; wherever possible,
these areas of conflict are indicated.
This book is divided into four unequal parts. Part I con-
tains a discussion of the historic and clinical examination.
Part II contains information concerning laboratory examina-
tion. Chapters relating to the symptom complexes that often
reflect the chief complaints of neurologically impaired chil-
dren compose Part III. Part IV provides detailed discussion
of various neurologic diseases that afflict children.
Although every precaution has been taken to avoid error,
bias, and prejudice, inevitably some of these demons have
become embedded in the text. The editor assumes full
responsibility for these indiscretions.
It is my fervent hope that the reader will find this book
informative and stimulating and that the contents will
provide an introduction to the understanding of many of the
conditions that remain mysterious and poorly explained.
Kenneth F. Swaiman, MD
Autumn 1988
PREFACE TO THE FIRST EDITION
13. W
e wish to thank Arlene Carpenter, Diana
Laulainen-Schein, Ann Elliott, and Kei Kaneshiro
for their time and effort, which so efficiently
affected manuscript flow, editing, and preparation, as well as
the innumerable other tasks necessary to complete this book.
We also wish to thank the librarians at the University of
Minnesota Medical School and at the Coleman and Del Webb
Libraries at Loma Linda University School of Medicine for
their help, advice, and willingness at any time to obtain
information that we required.
In addition, we wish to thank the editorial and publishing
staff at Elsevier, especially Susan Pioli, Jennifer Shreiner,
and Lee Ann Draud. Without their diligence, persistence,
insight, and flexibility, we would have never been able to
complete this project.
ACKNOWLEDGMENTS
14. Modern technology does not and cannot substitute for skilled
history taking. The crucial role of obtaining the patient’s
neurologic history directly from the patient or a member of the
patient’s family cannot be stressed enough. The history-taking
procedure should elicit specific information and be directed so
as to exclude or ensure inclusion of pertinent conditions in the
differential diagnosis of the child’s condition. The information
obtained during the history-taking session is critical during the
subsequent analysis and synthesis of all patient data. The
clinician should be involved in a dynamic diagnostic quest
throughout the interview and during the review of previous
medical and other relevant records. A systematic approach to
the medical history is mandatory; however, the clinician must
be alert to significant leads that may eventually prove essential
to the diagnostic process. The history-taking session is not a
netting operation with data to be subsequently sorted; rather,
the data should be dynamically synthesized as they are col-
lected and then used to alter the direction and depth of the
questioning process.
The process of identifying a differential diagnosis should
begin at the outset of questioning. In a broad sense, certain
umbrella categories encompass virtually all etiologic mech-
anisms that underlie the differential diagnosis. Inevitably, there
is some overlap (e.g., vascular occlusion in MELAS, a meta-
bolic condition; mass effect of a brain abscess, an infectious
condition). The fundamental pathologic processes, simplistic-
ally identified, are infectious, traumatic, metabolic, endo-
crinologic, toxic (exogenous and endogenous), congenital
structural malformations, vascular, neoplastic, degenerative
(usually of unknown or obscure cause), and idiopathic. Each
of these categories has many subsets with which the clinician
who evaluates neurologic problems in children must be fam-
iliar. The likelihood that one of the broad umbrella classi-
fications applies to the problem of the pediatric patient must be
judged while the history is obtained, during which time some
categories will gain in probability and some will become
increasingly remote. The information gathered during the
history-taking session may be vital in the process of literature
and database searches that may subsequently prove necessary.
The precise role of genetic determination (i.e., gene product
formation and use) in all familial pathologic processes is
exceedingly important now that the human genome has been
mapped.
Most chronic neurologic complaints are complex, and the
neurologist’s involvement is often preceded by involvement
of other professionals and agencies. If the parents are the
primary caregivers, both the mother and father should be
present if possible. When grandparents or other caregivers
are involved in attending to the child, they should be present.
Review of past medical and developmental histories is an
essential component of a good history-taking session.
Information should be sought from records and from ques-
tioning the mother about health problems, including infer-
tility, and diseases that occurred during pregnancy. With
increasing data accumulating regarding adverse pediatric
outcomes with assisted reproductive technologies [Jackson
et al., 2004], it is important to ask whether conception was
achieved naturally and, if not, what method of assisted
reproductive technology was employed. Gestational
information about infection, radiation, acute trauma, chronic
illnesses such as diabetes mellitus, and toxins, including illicit
drugs, tobacco, and alcohol, may prove invaluable. Further
information about medications that the mother received,
including over-the-counter preparations, should be probed.
It is important to record the expected and actual dates of
delivery. Review of birth records, including those of the
mother, may reveal information concerning difficulties with
pregnancy and problems in the perinatal period that are not
known or remembered by the parents. Details of the
intrapartum period, including associated hypertension,
drugs administered, length of stages of delivery, occurrence
of chorioamnionitis, and if possible, information concerning
placental pathology and the general appearance of the
newborn at time of birth, may prove enlightening.
It is important to determine the status of the newborn
infant. Information should be sought concerningApgar scores,
depression of activity, neonatal seizures, presence of hypo-
tonia, and whether tracheal intubation and ventilatory support
was needed.
The patient’s caregivers should be questioned carefully
about the nature and results of previously performed tests,
including electrodiagnostic tests, brain-imaging studies, bio-
chemical studies (e.g., quantitative assays of amino acids,
organic acids, lactic acid, and lysosomal enzymes), biopsies,
and chromosomal studies. The caregivers should also be
asked about whether medication or other treatment has been
administered or advised and about the result of such
therapies.
The primary problem of the child is embodied in the chief
complaint. A combination of chief complaints may prove
more specific and narrows the diagnostic spectrum (e.g., a
6-month-old male with delayed development and cataracts).
The differential diagnosis initially is based on the chief com-
plaint, which should therefore be documented as accurately
as possible. The caregiver’s or patient’s description should
be quoted verbatim, when possible. The period of onset and
whether the symptoms began acutely or gradually should be
carefully determined. The clinician should not substitute
medical terminology in place of the terms used by the care-
givers or patient when recording the chief complaint. Med-
ical terms must be explained fully so that responses are
complete and pertinent.
CHAPTER 1
General Aspects of the Patient’s Neurologic
History
Kenneth F. Swaiman
15. Notwithstanding these goals, the actual complaint may be
imprecisely described because the caregivers’ memories,
language, or observations may be inaccurate and because
the child may be unable to provide detailed information. The
clinician should make every attempt to question the child
directly. Even a preschool-aged child may provide helpful
information. Sometimes, adults who participate in the ses-
sion may not be objective or capable of accuracy. Most com-
monly however, the observations and concerns of the
caregiver should be given every consideration and essence
of credibility. It is extremely unwise to disregard these
components of the history when comments are some-
what unusual or incompatible with the clinician’s diagnostic
bias.
The features associated with the chief complaint compose
the history of the present illness. The questioning should
provide an incisive interaction between caregiver (or pa-
tient) and clinician and should be directed at formulating the
differential diagnosis. This portion of the communication
process requires skill and perseverance. An all-inclusive
neurologic history is impossible; however, that which makes
the history meaningful and complete may be the seemingly
trivial information that is not readily recalled or divulged.
The accomplished clinician can uncover this information by
directed and specific inquiry.
The chief complaint should trigger the process of
differential diagnosis in the examiner’s thinking, which
begins as a listing of the disease conditions that could cause
the chief complaint at the child’s age. The following four
specific questions should be answered, if possible, in taking
the history of the current illness:
1. Is the process acute or insidious?
2. Is it focal or generalized?
3. Is it progressive or static?
4. At what age did the problem begin?
The order in which disease findings develop and the precise
time of onset of symptoms and signs may be critical factors
in the process of accurate diagnosis. The presence of re-
peated episodes or associated phenomena should be deter-
mined. Detailed questions should be asked of the caregivers
and child to elucidate the facts.
4 Clinical Evaluation / 1
1 2 3 4 5 6 7 2 3 4 2 3 4 5 6 1 2 3 4
Days Weeks Months Years
Vascular conditions
Neurologicimpairment
1 2 3 4 5 6 7 2 3 4 2 3 4 5 6 1 2 3 4
Days Weeks Months Years
Infectious conditions
Neurologicimpairment
1 2 3 4 5 6 7 2 3 4 2 3 4 5 6 1 2 3 4
Days Weeks Months Years
Toxic conditionsNeurologicimpairment
1 2 3 4 5 6 7 2 3 4 2 3 4 5 6 1 2 3 4
Days Weeks Months Years
Degenerative and
neoplastic conditions
Neurologicimpairment
1 2 3 4 5 6 7 2 3 4 2 3 4 5 6 1 2 3 4
Days Weeks Months Years
Metabolic conditions
Neurologicimpairment
FIGURE 1-1. Patterns of onset and courses of neurologic conditions. The arrow in each graph signifies the point of clinical recognition. (Adapted from
Baker AB. Outline of clinical neurology. Dubuque, Iowa: William C Brown, 1958.)
16. Sequelae of traumatic events develop over a period of
minutes to a day (Fig. 1-1). Although the clinical manifes-
tations of cerebrovascular events normally develop over
minutes to hours, the underlying process may be long-
standing; therefore, acute onset of vascular symptoms may
be the result of a subacute or chronic process. Infectious
processes, electrolyte imbalances, and toxic processes
(endogenous or exogenous) usually reach their zenith within
a day to several days. Degenerative diseases, inborn meta-
bolic disorders, and neoplastic conditions usually progress
insidiously over weeks or months.
Based on the chronologic aspects of the history, the
clinician should ask questions related to the most likely
pathologic processes. For example, when the history sug-
gests a subacute process, the clinician should probe for char-
acteristics associated with an infectious process (e.g.,
exposure to a known infectious source, recent infection,
vomiting, diarrhea, fever) or with specific toxins (e.g., over-
the-counter medications, prescribed medications, insecticides,
other toxins found around the home).
Evaluation of whether a condition is focal or generalized
is embedded in the neurologic diagnostic process. A focal
Swaiman / General Aspects of the Patient’s Neurologic History 5
FIGURE 1-2. Denver Developmental Screening Test (Denver II) directions. (From Frankenburg WK, Dodds JB, Archer P, et al. The Denver II: A major
revision and restandardization of the Denver Developmental screening test. Pediatrics 1992;89:91.)
18. neurologic lesion is not necessarily one that causes focal
manifestations but is one that can be related to dysfunction
in a circumscribed neuroanatomic location. For example, a
focal lesion in the brainstem may cause ipsilateral cranial
nerve and contralateral corticospinal tract involvement. If the
difficulties are not focal within this definition, they usually
result from a generalized process or from several lesions
(i.e., multifocal). Neoplastic and vascular diseases fre-
quently result in focal processes; occasionally, trauma results
in such abnormalities. Generalized or multifocal conditions
are usually associated with degenerative, congenital,
metabolic, or toxic abnormalities.
The clinician must always attempt to determine whether
the condition is progressive or static. A detailed develop-
mental history is often the best means of substantiating
whether a condition is progressive or static. The history
should include a log of motor milestones and should contain
specific information regarding motor, language, and
adaptive-social behavior. Questions should be crafted to
obtain evidence that the child is no longer capable of motor
or intellectual activities that were previously performed.
This information is essential to the diagnosis of progressive
disease, which is usually preceded by a period of normal
development. Occasionally, previous formal neurologic and
psychometric evaluations may be available. Documentation
may be forthcoming from family photographs, family video
tapes, or baby books. In progressive conditions, docu-
mentation of increasing loss of normal function or an increase
in any symptoms, including pain, is essential. Conditions that
are static or improve spontaneously are usually the result of
traumatic or anoxic episodes, congenital abnormalities, acute
toxicity, or resolving infection.
The Denver Developmental Screening Test (DDST)
[Frankenburg and Dodds, 1967], the revised form [Franken-
burg et al., 1981], the Denver II screening test (Fig. 1-2)
[Frankenburg et al., 1992], or other developmental surveys
allow a more precise approach to the determination of whether
gains or losses of skills have occurred and aid in the decision
about whether a process is progressive or static.
The DDST has undergone a major revision and
restandardization and is available as the Denver Develop-
mental Screening Test II (DDST II, or Denver II). The
DDST II has replaced the older versions of the DDST.
Standardization testing for the Denver II included evaluating
each item to determine if significant differences among
different subpopulations existed. These subpopulations
included gender, ethnic group (i.e., black, white, or Hispanic),
maternal education (i.e., less than 12 grades completed or
more than 12 grades completed), and place of residence
(i.e., rural, semirural, or urban).
The Denver II differs from the DDST in the selected
items, test form, and interpretation. The total number of
items has been increased from 105 to 125, and items that
were judged as difficult to administer or interpret have been
modified or eliminated. Most of the new items are in the
language section. The technical manual should be consulted
if a delay is identified because it may be caused by socio-
cultural differences. The DDST II has been modified for use
in different language and cultural norms [Lejarraga et al.,
2002; Lim et al., 1996].
The test form for the Denver II resembles the DDST in the
vertical placement of items. Key Denver items have been
eliminated so that the age scale coincides with the American
Academy of Pediatrics’ suggested schedule for health main-
tenance examinations to facilitate use of the Denver II
during these visits. The norms for the distribution bars are
in accordance with the new standardization data. A valu-
able addition to the front of the form is a checklist for
documentation of the child’s behavior during testing.
Scoring and interpretation changes have also been made.
If a child is able to perform an item depicted to the right of
the age line, the performance is designated as advanced. If a
child fails or refuses an item that is depicted completely to
the right of the age line, the score for the item is deemed
normal. If the child passes, fails, or refuses an item on which
the age line falls between the 25th and 75th percentile lines,
performance is designated as normal. If the child refuses or
fails an item on which the age line falls on or between the
75th and 90th percentile lines, performance is designated as
a caution. If the child is unable to pass an item depicted
entirely to the left of the age line, performance is designated
as a delay. Sufficient items should be administered to estab-
lish basal and ceiling levels in each sector. To screen only for
developmental delays, only items located completely to the
left of the child’s age line should be administered. Retesting
is recommended after 1 to 3 months for performance scored
as a caution. Retesting for one or more delays, as well as
refusals, should be performed within 2 weeks.
It is essential that examiners, caregivers, and educational
personnel recognize that the Denver II provides an evalu-
ation of the child’s current developmental level and is not a
predictor of the future rate of development or eventual maxi-
mum attainment. The test may be used for early identi-
fication of neurologic deficits [Hallioglu et al., 2001].
Abnormalities in more complex and abstract functioning
may not be recognizable until a later age and will require
more sophisticated testing vehicles. Alteration in the child’s
biologic or environmental status may affect developmental
rate and achievement and should be investigated and taken
into account in the evaluation if appropriate.
The clinician should ask specific questions regarding the
age of attainment of developmental landmarks and should
make every attempt to discern whether the child is delayed
in many areas of development or has developed normally in
some areas but not in others. Children who have normal
motor development but also have hearing impairment may
have delayed speech. However, the presence of neuro-
muscular disease may cause obvious retardation of motor
development but may allow normal development of social
and language skills.
A specific form may be used by the examiner as a
guideline to the history-taking procedure (Fig. 1-3). There
are many systems for recording history and the subsequent
examination. The form printed in this chapter may be
modified to the specific needs of the patient and the
clinician.
The question of hyperactivity is often at the core of the
caregiver’s complaint. A rating scale may be completed by
teachers to aid the clinician in diagnosis (Fig. 1-4) [Connors,
1969]. The problem is discussed in more detail in Chapter 36.
School behavior can also be assessed by caregivers, as
shown in Box 1-1.
Many children are involved in some planned day activity,
day care, or school program after the age of 2 or 3 years.
Swaiman / General Aspects of the Patient’s Neurologic History 7
text continues on page 15
19. 8 Clinical Evaluation / 1
PREGNANCY
Birth date
Expected date
Birth weight
Birth occipitofrontal
circumference
(from old records)
Jaundice
Cyanosis
Infection
Seizures
Anemia
Other
Vitamins
Iron
Calcium
Hormones
Weight reduction
medication
Diuretics
Contraceptives
Sedatives, tranquilizers
Antiepileptics
Other
Colds, flu, etc.
Kidney, bladder infection
Rubella (German measles)
Rashes
Other infectious
diseases
Exposures to
infectious diseases
Diabetes
Kidney disease
Surgery
Radiographs
Other (explain)
Gestation data Newborn period
Illnesses (record month of pregnancy in which illness
occurred)
Medication taken by mother (check each one taken)
Labor and delivery
Hospitalizations
Operations
Injuries
Breech or unusual
presentation
Forceps use
Delay in respiration
or cry (Apgar scores
if available)
Was oxygen admini-
stration necessary?
Type of anesthesia
employed for mother
GENERAL HISTORY FORM
Medications administered
Home from hospital in days
DEVELOPMENT (indicate month skill attained)
Smiled
Laughed out loud
First words
Put words together
(e.g., “Daddy, bye-bye”)
Complete sentences
Rolled over
Sat without support
Crawled
Pulled to standing
Walked around
furniture
Walked unassisted
Rode tricycle
ILLNESSES
Age:
Age:
Age:
Age:
Age:
Age:
Age:
Reason:
Reason:
Reason:
Reason:
Reason:
Reason:
Reason:
FIGURE 1-3. The general history form can be used for obtaining the medical history, developmental history, and family history of children with neurologic
problems. (Courtesy of the Division of Pediatric Neurology, University of Minnesota Medical School.)
20. Swaiman / General Aspects of the Patient’s Neurologic History 9
Has child ever been unconscious?
Has child ever been poisoned?
Age:
Age:
Reason:
Reason:
Describe:
GENERAL HISTORY FORM —cont’d
Reason:Age:
Ages:
Ages:
SEIZURE HISTORY
Has child ever been treated with medication other than for colds and minor infections?
If yes, please give age and reason
MEDICATION
Name of poison
With fever
Without fever
Does child daydream often?:
and medication
Has child ever taken any of the following medications? Indicate age and reason below.
Drug
Clonazepam
(Klonopin)
Ethosuximide
(Zarontin)
Carbamazepine
(Tegretol)
Gabapentin
(Neurontin)
Lamotrigine
(Lamictal)
Levcetiracetem
(Keppra)
Oxcarbazepine
(Trileptal)
Phenytoin
(Dilantin)
Phenobarbital
(Luminal)
Primidone
(Mysoline)
Tiabagine
(Gabitril)
Topiramate
(Topamax)
Age/duration Reason Results
Results:
If child has had a convulsion, describe (first event, subse-
quent events, duration, warning, postconvulsion behavior,
etc.)
Has child ever had an electroencephalogram (EEG)?
FIGURE 1-3. cont’d.
21. 10 Clinical Evaluation / 1
Drug
Valproic acid
(Depakene/Depakote)
Vigabatrin
Other anti-
epileptic drugs
Amitriptyline
(Elavil)
Buproprion
(Wellbutrin)
Chlorpromazine
(Thorazine)
Dextroamphetamine
(Dexedrine, Adderall)
Diazepam
(Valium)
Fluoxetine
(Prozac)
Haloperidol
(Haldol)
Zonisamide
(Zonegran)
Imipramine
(Tofranil)
Methylphenidate
(Ritalin, Concerta)
Paroxetine
(Paxil)
Pemoline
(Cylert)
Risperidone
(Risperdal)
Thioridazine
(Mellaril)
Sertraline
(Zoloft)
Other psycho-
pharmacologic
drugs
FAMILY HISTORY
Ataxia
Blindness
Cerebral palsy
Deafness
Dementia
Mental retardation
Movement disorders
Seizures
Weakness
Are there family members suffering or who have suffered from:
Age/duration Reason Results
GENERAL HISTORY FORM —cont’d
FIGURE 1-3. cont’d.
22. Swaiman / General Aspects of the Patient’s Neurologic History 11
Teacher Questionnaire—School Behavioral Assessment
Pupil’s name
Teacher: Please place a checkmark in the appropriate column for each item. Choose the degree of activity that best describes the child’s behavior.
Date
Observation Not at all Very often
Classroom behavior
Fairly oftenRarely
Degree of activity
Constantly fidgets
Demands must be met immediately—easily
frustrated
Hums and makes other odd noises
Coordination poor
Restless or overactive
Excitable, impulsive
Inattentive, easily distracted
Fails to finish things started—short attention
span
Overly sensitive
Sullen or sulky
Daydreams
Overly serious or sad
Cries often and easily
Disturbs other children
Quarrelsome
Mood changes quickly and drastically
Obnoxious behavior
Destructive
Steals
Lies
Temper outbursts, explosive and unpredictable
behavior
Childish and immature
Easily frustrated in efforts
Difficulty in learning
FIGURE 1-4. Teacher questionnaire for behavioral assessment. (Adapted from Conners CK. A teacher rating scale for use in drug studies with children.
Am J Psychiatry 1967;126:884.)
23. 12 Clinical Evaluation / 1
Teacher Questionnaire—School Behavioral Assessment–cont’d
Pupil’s name
Teacher: Please place a checkmark in the appropriate column for each item. Choose the degree of activity that best describes
the child’s behavior.
Date
Observation Not at all
Attitude toward authority
Very often
Group participation
Fairly oftenRarely
Degree of activity
Isolates self from other children
Seems unaccepted by group
Seems easily led
No sense of fair play
Denies mistakes and blames others
Submissive
Teases other children or interferes with their
activities
Seems to lack leadership
Does not get along with opposite sex
Does not get along with same sex
Defiant
Impudent
Shy
Fearful
Excessive demands for teacher’s attention
Stubborn
Overly anxious to please
Uncooperative
Attendance problem
FIGURE 1-4. cont’d.
24. Swaiman / General Aspects of the Patient’s Neurologic History 13
BOX 1-1
Parents/Caretaker Questionnaire—School Behavioral Assessment
Pupil’s name Date
School performance
Have teachers expressed concern about your child’s learning? Yes No
If yes, please list the grade at which concern was expressed and the subject(s) of concern.
Have teachers expressed concern about your child’s relationships with other children? Yes No
If yes, please list the grade at which concern was expressed and the behavior of concern.
Grade Service
Has your child repeated any grades? Yes No
If yes, what grade(s) was repeated and what reason(s) was given?
Has your child received special education services? Yes No
If yes, please list the grade and type of service provided. Services in schools include: Chapter 1 or Title 1 support; Learning Disabilities;
Emotional Behavioral Disorder; Physical and Other Health Impairment; Mildly Mentally Handicapped, Trainable Mentally Handicapped;
Adaptive Physical Education; Speech and Language; Occupational Therapy; and Physical Therapy.
Courtesy Division of Pediatric Neurology, University of Minnesota Medical School.
Have teachers expressed concern about your child’s behavior? Yes No
If yes, please list the grade at which concern was expressed and the behavior of concern.
Grade
Grade
Grade Problem
Behavior(s)
Subject(s)
25. 14 Clinical Evaluation / 1
I.
III.
II.
Identifying information
Name Birthdate
Address
School address
School
Teacher
Retention
Principal
School phone
Grade
SCHOOL REPORT
This report is confidential and for our use only
Child’s school history (please attach a transcript of grades, results of and achievement tests, including results of IQ tests, and
previous psychologic and/or speech evaluations)
Special characteristics (check all that apply under each category)
Reading level
Motivation
Above
grade
Behavior
Attention
Relationship to
authority figures
Intense
Aggressive
Absorbed
Average
Average
Average
Attentive
Too
deferent
Coopera-
tive
Sometimes
rebels
Shy
Needs
urging
Indifferent
Slightly
below
Severe
difficulty
Resistant
Withdrawn
Easily
distracted
Defiant
Isolated
one or two
friends
Sporadic
Severe
problems
Extended
absence
Visual
defect
Hearing
loss
Frequent
absence
Normal
absence
Normal
Normal
Normal
Up to
ability
Well liked
by all
“Over-
achiever”
Never
misses
Question-
able
Question-
able
Poor
Minor
difficulty
Handicapped
(describe)
Severe
difficulty
Average
for ageExcellent
No
problem
Relationship with
peers
Achievement
Attendance
Eyesight
Hearing
Motor coordination
Speech
FIGURE 1-5. School information form that can be used to obtain child’s school history from school, day care center, or day activity center. (Courtesy of the
Division of Pediatric Neurology, University of Minnesota Medical School.)
26. A questionnaire, as in Figure 1-5, can be devised that will
allow supervisory personnel to record intellectual, motor,
and emotional characteristics.
It is essential that an adequate family history be recorded.
Ages of siblings (including those who have died and those
aborted), parents, grandparents, uncles, and aunts should be
available. It is particularly helpful to gain health history
details of deceased siblings and relatives, because familial
conditions that might otherwise go undiscovered are often
revealed.
Questions concerning neurologic diseases initially should
be specific; then more generalized questions should be asked
because caregivers may not understand the more specific
approach. The presence of epilepsy, cerebral palsy, deafness,
mental retardation, movement disorders, blindness, ataxia,
weakness, or progressive intellectual and motor deteriora-
tion must be determined. Less sophisticated names, such as
fainting spells, nervous breakdowns, strokes, and palsies,
may strike a responsive chord. It is imperative that the
clinician ask if any family members suffer from the same
problems that affect the patient.
Autosomal-dominant traits may be present in successive
generations, although the degree of expressivity may vary.
Autosomal-recessive traits often do not manifest in suc-
cessive generations but may be present in siblings. Con-
sanguinity must be considered when autosomal-recessive
Swaiman / General Aspects of the Patient’s Neurologic History 15
Other health problems (specify)
Special help
given
Attitude towards school
Briefly give your impression of the child’s behavior in school: any examples or anecdotes would be appreciated
Remedial
reading
Speech
therapy
Special
education
SCHOOL REPORT—cont’d
Tutoring Other
IV.
V.
VII.
VIII.
IX.
X.
VI.
Attitude towards teacher
Attitude towards self
Are there any problems that you think need special attention?
Attitude towards peers
Yes No (please describe in detail)
What do you like best about this child?
What is the relationship between school personnel and the child’s parents?
What do you think can be done to help the child overcome his or her current difficulties? What resources are available in the
school, school district, or community?
What do his or her classmates like best?
What is your impression of the home environment of the child (stimulating, average, detrimental)? Describe any specific
features that you think may be important.
Signature
Title
Date
FIGURE 1-5. cont’d.
27. disease is part of the differential diagnosis. X-linked
recessive conditions are manifest in male siblings, male first
cousins, and maternal uncles. Careful questioning of the
mother, if possible, is highly desirable. Although mito-
chondrial diseases may be inherited through transmission of
maternal DNA, paternal inheritance patterns are also poss-
ible [Schwartz and Vissing, 2003]. If a genetic condition is
suspected, it is wise to examine siblings, parents, and other
family members to augment the history.
REFERENCES
Baker AB. Outline of clinical neurology. Dubuque, Iowa: William C Brown,
1958.
Conners CK. A teacher rating scale for use in drug studies with children.
Am J Psychiatry 1969;126:152.
Frankenburg WK, Dodds JB. Denver developmental screening test.
J Pediatr 1967;71:181.
Frankenburg WK, Fandal AW, Sciarillo W, et al. The newly abbreviated
and revised Denver Developmental Screening Test. J Pediatr
1981;99:995.
Frankenburg WK, Dodds JB, Archer P, et al. The Denver II: A major
revision and restandardization of the Denver Developmental screening
test. Pediatrics 1992;89:91.
Hallioglu O, Topaloglu AK, Zenciroglu A, et al. Denver developmental
screening test II for early identification of the infants who will develop
major neurological deficit as a sequelae of hypoxic-ischemic
encephalopathy. Pediatr Int 2001;43:400.
Jackson R, Gibson KA, Wu YW, Croughan MS. Perinatal outcomes in
singletons following in vitro fertilization: A meta-analysis. Obstet
Gynecol 2004;103:551.
Lim HC, Chan T, Yoong T. Standardisation and adaptation of the Denver
Developmental Screening Test (DDST) and Denver II for use in
Singapore children. Singapore Med J 1994;35:156.
Lim HC, Ho LY, Goh LH, et al. The field testing of Denver
Developmental Screening Test Singapore: A Singapore version of
Denver II Developmental Screening Test. Ann Acad Med Singapore
1996;25:200.
Lejarraga H, Pascucci MC, Krupitzky S, et al. Psychomotor development
in Argentinean children aged 0-5 years. Paediatr Perinat Epidemiol
2002;16:47.
Schwartz M, Vissing J. New patterns of inheritance in mitochondrial
disease. Biochem Biophys Res Commun 2003;310:247.
16 Clinical Evaluation / 1
28. The neurologic examination of children is described in this
and the next two chapters. The material is organized on the
basis of age for convenience of presentation; however, because
it is usually feasible to perform a more rigorous examination
of older children, detailed discussion of the conventional
neurologic examination of children is provided in this
chapter, including evaluation of the cranial nerves.
Examination of a child older than 2 years should be as
informal as possible while maintaining a basic flow pattern
to permit complete evaluation. The older child has acquired
a large repertory of skills since infancy (Box 2-1). For child-
ren between 2 and 5 years old, the Denver Developmental
Screening Test II may be useful in evaluating various motor
skills [Frankenburg et al., 1992] (see Chapter 1). Many
neurologic functions of children between the ages of 2 and
4 years are examined in the same manner as those of chil-
dren younger than 2 years. As is the case with younger
children, some patients between 2 and 4 years old may be
most comfortable sitting on a caregiver’s lap. The examining
room should be equipped with small toys, dolls, and pictures
with which to interest the child and provide for ease of inter-
action. Observation and play techniques are essential means
of monitoring intellectual and motor function. Children may
choose to move about the examining room and may be
attracted to these various playthings. After 4 years of age,
the components of the neurologic examination are more con-
ventional and routine, and by adolescence, the examination
is much the same as the adult examination.
OBSERVATION
Much can be learned by observation during the history-
taking session. Older children should sit in a chair or per-
form tasks, such as reading or drawing with crayons or
colored pencils. If the child participates actively in the
history-taking procedure, the child’s understanding and
contribution to the session allow the examiner to make judg-
ments about the child’s intellectual skills. The child’s lan-
guage skills can be assessed. Stuttering, dysarthria, nasal
speech, dysphonia, and problems of articulation are evident.
This session also provides an additional opportunity to
evaluate facial movements. Head nodding, lip twitching, eye
blinking, and staring may be evidence of epilepsy. Move-
ment disorders involving the face, such as chorea or tics, and
other movement disorders involving the neck, limbs, and
trunk (i.e., athetosis, chorea, dystonia, myoclonus, tics, and
spasms) may be noticeable.
This portion of the examination provides an opportunity
to assess the child’s behavior. Impulsivity, short attention span,
and relative dependence may be evident. The child may be
unable to sit or play quietly. Distractibility may be evident
in response to minor external stimuli. The caregiver-child
interaction may also be observed during this time. The care-
giver may threaten or use physical force or obsequiously
cajole the child. The child’s response may be inappropriate.
The following questions must be answered. Does the
child respond positively to the caregiver’s interaction? Does
the child attempt to manipulate the caregiver? Is the re-
sponse transient or persistent? Is the caregiver’s attitude one
of caring or hostility?
SCREENING GROSS MOTOR FUNCTION
Sometime between 4 and 6 years of age, most children of
normal intelligence participate in a motor screening exam-
ination. A rapid screening component is advisable because
the child may lose interest, become distractible, or become
tired and oppositional. The child should stand before the
examiner. Whenever possible during the entire the examina-
tion, the examiner should demonstrate each of the various
motor acts with precision and good humor. A smiling exam-
iner is much more likely to be accepted by the child. Then,
for example, the examiner should ask the child to watch as
he or she hops on either foot. The child should then be asked
to hop in place on each foot (first one then the other) “just
the way I did.” The same technique should then be used
to have the child tandem walk forward and backward, toe-
walk, and heel-walk. The child should be asked to rise from
a squatting position. The child should then be asked to stand
with the feet close together, eyes closed, and arms and hands
outstretched. This maneuver allows simultaneous assess-
ment of Romberg’s sign and adventitious movements, par-
ticularly of the face, arms, and hands. The child should then
be asked to perform finger-to-nose movements with the eyes
closed and finger-to-finger-to-nose movements with the eyes
open. After this rapid screening procedure, the examiner can
begin a more detailed and systematic evaluation, bearing in
mind any suggested abnormalities evident during the
screening process.
PHYSICAL EXAMINATION
Deep Tendon Reflexes
Deep tendon reflexes (i.e., muscle stretch reflexes) are readily
elicited by conventional means with a reflex hammer while
the child is sitting quietly. In the case of the biceps reflex, it
may be helpful for the examiner to place his or her thumb on
the tendon and strike the positioned thumb to elicit the
CHAPTER 2
Neurologic Examination of the Older Child
Kenneth F. Swaiman
29. reflex. If the child is crying or overtly resists, the examiner
should postpone this portion of the examination. The child
may be reassured if the examiner taps the brachioradialis re-
flex of the caregiver before performing the same act on the
child. Deep tendon reflexes customarily examined include the
biceps, triceps, brachioradialis, patellar, and Achilles reflexes.
Each tendon reflex is mediated at a specific spinal segmental
level or levels (Table 2-1) [Haymaker and Woodhall, 1962;
Hollinshead, 1969]. Hyperactive reflexes or clonic responses
to tapping of the reflex result from corticospinal dysfunction.
Hyperreflexia may also be indicated by an abnormal “spread”
of responses, which includes contraction of muscle groups
that usually do not contract when a specific reflex is being
elicited (i.e., crossed thigh adductor or finger flexor reflexes).
Although a bilateral brisk reflex response may be normal,
particularly when only one reflex is involved, unilateral
hyperreflexia virtually always signals a pathologic process.
Hyporeflexia may be associated with lower motor unit
involvement (e.g., anterior horn cell disease, peripheral neu-
ropathy, myopathy). However, hyporeflexia may occasionally
be found with central depression, impaired central control
of the gamma loop (central hypotonia), or involvement of
18 Clinical Evaluation / 2
Box 2-1 EMERGING PATTERNS OF BEHAVIOR FROM 1 TO 5 YEARS OF AGE
15 Months
Motor: Walks alone; crawls up stairs
Adaptive: Makes tower of two cubes; makes a line with crayon; inserts pellet into bottle
Language: Jargon; follows simple commands; may name a familiar object (ball)
Social: Indicates some desires or needs by pointing; hugs parents
18 Months
Motor: Runs stiffly; sits on small chair; walks up stairs with one hand held; explores drawers and waste baskets
Adaptive: Piles three cubes; initiates scribbling; imitates vertical stroke; dumps pellet from bottle
Language: 10 words (average); names pictures; identifies one or more parts of body
Social: Feeds self; seeks help when in trouble; may complain when wet or soiled; kisses parents with pucker
24 Months
Motor: Runs well; walks up and down stairs one step at a time; opens doors; climbs on furniture
Adaptive: Makes tower of six cubes; circular scribbling; imitates horizontal strokes; folds paper once imitatively
Language: Puts three words together (subject, verb, object)
Social: Handles spoon well; tells immediate experiences; helps to undress; listens to stories with pictures
30 Months
Motor: Jumps
Adaptive: Makes tower of eight cubes; makes vertical and horizontal strokes but generally will not join them to make
a cross; imitates circular stroke; forming closed figure
Language: Refers to self by pronoun “I”; knows full name
Social: Helps put things away; pretends in play
36 Months
Motor: Goes up stairs altenating feet; rides tricycle; stands momentarily on one foot
Adaptive: Makes tower of nine cubes; imitates construction of “bridge” of three cubes; copies a circle; imitates a
cross
Language: Knows age and gender; counts three objects correctly; repeats three numbers or a sentence of six syllables
Social: Plays simple games (in “parallel” with other children); helps in dressing (unbuttons clothing and puts on
shoes); washes hands
48 Months
Motor: Hops on one foot; throws ball overhand; uses scissors to cut out pictures; climbs well
Adaptive: Copies bridge from model; imitates construction of “gate” of five cubes; copies cross and square; draws a
man with two to four parts besides head; names longer of two lines
Language: Counts four pennies accurately; tells a story
Social: Plays with several children with beginning of social interaction and role playing; goes to toilet alone
60 Months
Motor: Skips
Adaptive: Draws triangle from copy; names heavier of two weights
Language: Names four colors; repeats sentences of 10 syllables; counts 10 pennies correctly
Social: Dresses and undresses; asks questions about meanings of words; domestic role playing
Adapted from Behrman RE, et al. Nelson textbook of pediatrics, 14th ed. Philadelphia: WB Saunders, 1992.
30. the posterior root (intramedullary or extramedullary). With
anterior horn cell involvement (e.g., infantile spinal muscular
atrophy), the patellar reflexes are greatly diminished or absent
early because the cells subserving the proximal muscles of the
legs are profoundly involved first. Sensory involvement,
particularly peripheral, is often detectable in patients with
neuropathies. Similarly, the distal deep tendon reflexes tend to
be involved earlier and to a greater degree. Reflexes may be
normal early in the course of certain myopathies, including the
muscular dystrophies, and may become absent later.
Disease generally decreases muscle tone and may decrease
tendon reflexes because of effects on the gamma loop.
Enhancement of tendon reflex responses when reflexes
are seemingly absent can be promoted by having the child
squeeze an object such as a block or ball or perform the more
traditional Jendrassik maneuver (i.e., hooking the fingers
together while flexed and then attempting to pull them apart).
Other Reflexes
A flexor (plantar) toe sign response is normal in children.
Impairment of corticospinal tract function leads to extensor
responses. The Babinski reflex is elicited by firm, steady,
slow stroking from posterior to anterior of the lateral margin
of the sole with an object such as a key or a tongue blade.
The stimulus should not be painful. A positive response is a
slow, tonic hyperextension of the great toe. This response is
the constant and necessary feature of a positive response.
The other four toes may also hyperextend, or they may
slowly spread apart (i.e., fanning).
Flicking the patient’s nail (second or third finger) down-
ward with the examiner’s nail (i.e., the Hoffmann reflex)
results in flexion of the distal phalanx of the thumb. No
response or a muted response occur in normal children;
a brisk or asymmetric response occurs in the presence of
corticospinal tract involvement.
Abdominal reflexes are obtained by stroking the abdomen
from lateral to medial with strokes beginning just above
the umbilicus, lateral to the umbilicus, and just below the
umbilicus directed toward the umbilicus. Unilateral absence
of the reflex usually is associated with acquired cortico-
spinal tract dysfunction.
The cremasteric reflex is elicited in males by stroking the
inner aspects of the thigh in a caudal-rostral direction and
observing the contraction of the scrotum. The reflex is nor-
mally present and symmetric. Absence or asymmetry may
indicate corticospinal tract involvement.
Developmental reflexes are discussed in Chapter 3. The
persistence of developmental reflexes beyond the expected
age of extinction is usually an indication of corticospinal
tract impairment [Zafeiriou, 2004].
Cerebellar Function
Head tilt may be associated with tumors of the cerebellum.
The tilt is usually ipsilateral to the involved cerebellar hemi-
sphere, but exceptions are common. Herniation of the cere-
bellar tonsils through the foramen magnum resulting from
increased intracranial pressure may cause head tilt; neoplasms
that induce increased intracranial pressure, other than those of
the cerebellum, may cause head tilt. Cerebellar function is also
evaluated during testing of station and gait (see Chapter 5).
Cerebellar dysfunction is usually associated with hypotonia.
Tremor in cerebellar disease occurs with action (intention).
Cerebellar function is assessed in a number of ways. Hand
patting (i.e., alternating pronation and supination of the hand
on the thigh while the other hand remains stationary on the
other thigh) is a good method for assessing dysdiadocho-
kinesis. The maneuver is repeated with each hand separately
to assess the presence of mirror movements (i.e., syn-
kinesis). Other tests that monitor cerebellar integrity include
repetitive finger tapping (thumb to forefinger), foot tapping,
and finger-to-nose, finger-to-finger (examiner’s)-to-nose,
and heel-to-knee-to-shin stroking. These movements are
an index of cerebellar function when limb strength and sen-
sation are intact. Breaks in rhythm and nonfluidity of move-
ment, as well as dysmetria, which is suggestive of cerebellar
dysfunction, are evident during this phase of the examination.
Cranial Nerve Examination
In older children, the cranial nerve examination may be per-
formed in a systematic fashion, beginning with the first cranial
nerve and testing through the twelfth. Examination of infants
and younger children usually requires some modification of
the sequence and may need some ingenious improvisation
of the procedure, according to the degree of cooperation of
the child. As is the case with all examinations of infants and
young children, the less-threatening portions of the
examination should be performed first.
Olfactory Nerve: Cranial Nerve I
Olfactory nerve function is rarely impaired in childhood.
Cranial nerve I can be evaluated by having the child smell
pleasant aromas (e.g., chocolate, vanilla, peppermint) through
each nostril while the other is manually occluded. Olfactory
sensation is intact if the child appreciates a change in odor;
precise identification is often impracticable. Anosmia occurs
most commonly in children with upper respiratory infec-
tions or after head trauma, often occipital. Neoplasms in the
inferior frontal lobe or cribriform plate regions can cause
anosmia. Unilateral anosmia is more worrisome than bilateral
anosmia because of the possibility of a unilateral neoplasm.
Optic Nerve: Cranial Nerve II
Examination of cranial nerve II, the optic nerve, is one of the
critical portions of the neurologic examination because of
Swaiman / Neurologic Examination of the Older Child 19
TABLE 2-1
Muscle Stretch (Tendon) Reflexes
REFLEX NERVE SEGMENTAL
LEVEL
Biceps Musculocutaneous C5, C6
Brachioradialis Radial C5, C6
Gastrocnemius and Tibial L5, S1, S2
soleus (ankle jerk)
Hamstring Sciatic L4. L5, S1, S2
Jaw Trigeminal Pons
Quadriceps (knee jerk) Femoral L2-L4
Triceps Radial C6, C8
31. the long anterior-to-posterior span of the visual pathways
within the brain. Formal visual acuity testing is possible
with a Snellen chart or a “near card” in older children. Visual
acuity and visual field testing should be performed in an
appropriately lighted room. The visual test objects should be
easily visible and without glare. Occasionally, when subtle
changes are being investigated, it is efficacious to hold the
visual field test object against a background of less contrast,
increasing the difficulty of identification.
Function can be difficult to evaluate in the very young
child. Gross vision can be assessed in children younger than
3 or 4 years of age by their ability to recognize familiar
items of various sizes, shapes, and colors. Beyond 4 years of
age, the E test is useful. The child is taught to recognize the
E and to discern the direction in which the three “arms” are
pointing and point a finger accordingly. Most older children
can be taught the essentials of the test in less than a minute.
During the acuity evaluation, Es of different sizes, rotated in
different directions, are presented to the child.
For each eye, the visual field (range of vision) is assessed
by confrontation with an object that is moved from a tem-
poral to nasal direction along radii of the field. A small
(3-mm), white or red test object or toy can be used. A
modification of the same procedure can be used for double
simultaneous testing by moving two test objects or penlights
simultaneously from the temporal to the nasal fields and
then from the superior and inferior portions of the temporal
and nasal fields while the child looks directly at the exam-
iner’s nose. Finger counting can be used if acuity is grossly
distorted. In cases of extreme impairment, perception of a
rapidly moving finger can be used.
Visual acuity is rarely affected by papilledema until there
is scarring of the optic nerve head. This lack of acuity change
is in marked contrast to the early loss of visual activity that
accompanies inflammation of the optic nerve.
The optic disc (i.e., optic nerve head) of the older child
is sharply defined and often salmon colored, which differs
from the pale gray color of the disc in an infant. In the
presence of a deep cup in the optic disc, the color may
appear pale, but the pallor is localized to the center of the
disc. The pallor of optic atrophy occurs centrally and per-
ipherally and is accompanied by a decreased number of
arterioles in the disc margins. Most commonly, papilledema
is associated with elevation of the optic disc, distended
veins, and lack of venous pulsations. Hemorrhages may sur-
round the disc. Before papilledema is obvious, there may be
blurring of the nasal disc margins and hyperemia of the
nerve head.
Pupils should be observed in light that allows them to
remain mildly mydriatic. The diameter, regularity of con-
tour, and responsivity of the pupils to light should be
examined. The upper lid is usually at the margin of the
pupil. In Horner’s syndrome, impairment of the sympathetic
pathway results in a miotic pupil, mild ptosis, and defective
sweating over the ipsilateral side of the face (Fig. 2-1). Drag-
ging a finger over the child’s forehead may aid in the recog-
nition of anhidrosis. The fixed, dilated pupil usually is
associated with other signs of oculomotor nerve dysfunction
and may signify cerebral tonsillar herniation.
The presence or absence of the pupillary light reflex dif-
ferentiates between peripheral and cortical blindness. Le-
sions of the anterior visual pathway (i.e., retina to lateral
geniculate body) result in the interruption of the afferent
limb of the pupillary light reflex, producing an absent or
decreased reflex. Anterior visual pathway interruption can
cause amblyopia in one eye. In this situation, the pupil fails
to constrict when stimulated with direct light; however, the
consensual pupillary response (i.e., response when the other
eye is illuminated) is intact. Various degrees of visual loss
may modify this phenomenon so that the full response to
direct stimulation is delayed, but the consensual reflex is
brisk. The deficient pupillary reflex is revealed by alter-
nately aiming a light source toward one eye and then the
other. In the eye with decreased vision, consensual pupillary
constriction is greater than the response to direct light
stimulation (Marcus Gunn pupil); the pupil of the affected
eye may dilate slightly during direct stimulation.
Oculomotor, Trochlear, and Abducens Nerves: Cranial
Nerves III, IV, and VI
The oculomotor, trochlear, and abducens cranial nerves con-
trol extraocular motor movements; these nerves must operate
synchronously or diplopia ensues. Cranial nerve III innervates
the superior, inferior, and medial recti; the inferior oblique;
and the eyelid elevator (levator palpebra superioris). Cranial
nerves IV and VI innervate the superior oblique muscle and
the lateral rectus muscle, respectively. Unfortunately, for pur-
poses of understanding, the function of extraocular muscles
depends somewhat on the direction of gaze. The lateral and
medial recti are abductors and adductors of the globe, res-
pectively. The superior rectus and inferior oblique are ele-
vators, and the inferior rectus and superior oblique are
depressors. The oblique muscles act in the vertical plane
while an eye is adducted. The recti muscles serve this func-
tion when an eye is abducted (Fig. 2-2). When directed for-
ward (i.e., primary position), the oblique muscles effect
20 Clinical Evaluation / 2
FIGURE 2-1. Bilateral oculomotor nerve paralysis. (Courtesy of the
Division of Pediatric Neurology, University of Minnesota Medical
School.)
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PEDIATRIC NEUROLOGY: PRINCIPLES & PRACTICE ISBN-13: 9780323033657
Volume 1: Part no. 9996004716
Volume 2: Part no. 9996004775
ISBN-10: 0-323-03365-2
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Library of Congress Cataloging-in-Publication Data
Pediatric neurology : principles & practice / [edited by] Kenneth F. Swaiman,
Stephen Ashwal, Donna M. Ferriero.—4th ed.
p. ; cm.
Includes bibliographical references and index.
ISBN 0-323-03365-2
1. Pediatric neurology. I. Swaiman, Kenneth F., 1931– II. Ashwal, Stephen, 1945–
III. Ferriero, Donna M.
[DNLM: 1. Nervous System Diseases—Child. 2. Nervous System Diseases—Infant. WS 340 P3713 2006]
RJ486.P336.2006
618.92′8—dc22
2005043798
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