Pediatric Neurology at the Millennium a Celebration or a Challenge?

PEDIATRIC NEUROLOGY BRIEFS A MONTHLY JOURNAL REVIEW J. GORDON MILLICHAP, M.D., F.R.C.P., EDITOR Vol. 14, No. 1 January 2000 PEDIATRIC NEUROLOGY AT THE MILLENNIUM A CELEBRATION OR A CHALLENGE? One definition of the millennium is an anniversary or celebration of "a period of freedom from imperfections in human existence." We have not reached this Utopian ideal but, in the relatively short space of time since the specialty of pediatric neurology was envisioned and vigorously developed, in the 1950s, much progress has been accomplished, much for the better but with limiting reservations. CELEBRATION. Childhood epilepsies are more accurately diagnosed and better controlled, but not without adverse side-effects. The utility of the International Headache Society (IHS) criteria for the definition of migraine headaches in children has been challenged because of the lack of agreement between pediatric neurology studies and the IHS diagnostic criteria, based on adult data. The hyperactive and inattentive child with ADHD is benefited by methylphenidate, but not without controversy concerning the wisdom of 'medicaUzing' a behavior, frequently regarded by social scientists and the media as a variant of normal. The neurologic basis for dyslexia and other learning disabilities is better understood with the help of neuroimaging techniques. Tourette syndrome and tics, ignored in neurology textbooks in the 1950-60s, are a common subject for research and review in neurology journals since the 1970s. As a downside of this observation and a result of one successful therapeutic advance, an apparent increase in prevalence of tics may be linked to the increased use of stimulant medications in the United States. Advances in genetics of neurologic disease have been particularly valuable in the diagnosis of neuromuscular disorders, sometimes without the necessity for an invasive muscle biopsy. Discoveries relating molecular genetic programming of the embryonic neural tube to cerebral malformations have helped in our . understanding of the causes of congenital hydrocephalus, holoprosencephaly, and heterotopias. The role of the pediatric neurologist in the neonatal unit has changed from a mainly passive consultant to an active participant in the treatment of seizures, diagnosis of congenital myopathies, and prediction of cerebral palsy in infants with asphyxia. Neuro-oncology is an important new PEDIATRIC NEUROLOGY BRIEFS (ISSN 1043-3155) © 2000 covers selected articles from the world literature and is published monthly. Send subscription requests ($63 US; $65 Canada; $73 airmail outside N America) to Pediatric Neurology Briefs - J. Gordon Millichap, M.D., F.R.C.P.-Editor, P.O. Box 11391, Chicago, Illinois, 60611, USA. The editor is Pediatric Neurologist at Children's Memorial Hospital and Northwestern University Medical School, Chicago, Illinois. PNB is a continuing education service designed to expedite and facilitate review of current scientific information for physicians and other health professionals. Fax: 312-943-0123. Visit our web site: www.pnbpublishers.com Pediatric Neurology Briefs 2000 1 subspecialty, aiding the neurosurgeon in the management of tumors and the hematologist in the neurologic complications of leukemia. Interest in cerebrovascular disease has increased with the introduction of less invasive methods of diagnosis, such as magnetic resonance imaging, magnetic resonance angiography, and transcranial Doppler. In traumatic head injury, improved obstetrics has lessened the frequency of birth head injury, road vehicle accidents and non-accidental injury have increased as causes of childhood head injury, and modifications of the Glasgow Coma Scale aid in the evaluation and prognosis. Infectious disease has increased in importance in pediatric neurology practice and research as a result of HIV-1 infection, the AIDS epidemic, and its frequent CNS complications. The use of protease inhibitors has reduced AIDS mortality and the frequency of AIDS progressive encephalopathy. The availability of the polymerase chain reaction (PCR) test facilitates the early diagnosis of viral infections of the CNS. The role of toxins in the cause of neurologic disorders is recognized: lead poisoning rarely results in acute encephalopathy, but abatement methods have not completely prevented the cognitive impairments linked to low-level exposures. Heredo-degenerative, metabolic, and demyelinating diseases are estimated to account for approximately 20% of pediatric neurology practice in the United States. Recent advances include the documentation of clinical diagnostic criteria for newly recognized syndromes, some with specific MRI findings, diagnostic enzyme assays and enzyme replacement therapy, prenatal detection of disease, evidence of a genetic basis for Rett syndrome, and the use of 5-hydroxytryptophan and vitamin E among treatment regimens. Finally, despite some scepticism, interest in the role of nutrition and diet in the cause and treatment of neurologic disorders has expanded, including folate deficiency and spina bifida, and the ketogenic diet in the treatment of epilepsy. CHALLENGES FOR THE 21ST CENTURY include the following: • neurogenetics and studies of the genetic heterogeneity of the epilepsies and specific gene replacement and neuropharmacological and febrile seizures, treatments in • the epilepsy; cause of ADHD, neurotransmitter analyses, dopamine transporter genes and MPH response, and development of more specific therapies; • the early recognition, pathogenesis, and prevention of learning disabilities, including dyslexia; regulators and mutant analysis in the investigation of neural development and prevention of cerebral and spinal cord anomalies; • genetic screening and gene therapy of neuromuscular diseases and ethical considerations; • advances in treatment of neonatal asphyxia, neonatal seizures, and birth injuries; • advances in neuroimmunology and chemotherapy in brain tumors; • DNA targetting and molecular studies of drug resistant organisms, and advances in antibiotic therapy for drug resistant CNS infections and new • the role of gene antiviral agents; • Pathogenesis of degenerative, metabolic, and demyelinating diseases, and their treatment; • Collaboration with colleagues in radiology and electrophysiology, advancing the use of neuroimaging, PET. and EEG in diagnosis and management of neurologic disease; • Recognition of toxic and nutritional disorders of the nervous system, and the role of dietary factors in therapy. Pediatric Neurology Briefs 2000 2 To meet these challenges and achieve these goals, the pediatric neurologist be trained as a scientist as well as a clinician. Training program directors should encourage fellows with a demonstrated aptitude and motivation in must laboratory research. The National Institutes of Health, politicians, and hospital administrators need to provide necessary monies from budget surpluses or through in (...truncated)