Pediatrics and the Evolution of Child Neurology

Commentary From the AAP Section on Neurology

The American Academy of Pediatrics (AAP) Section on Neurology, founded in 1977, is dedicated to improving the care of infants, children, and adolescents by providing an educational forum for the discussion of neurologic and neurodevelopmental problems in children. The section has regular educational programs at the AAP National Conference & Exhibition that are oriented toward the pediatric generalist and provide a framework for the routine evaluation and diagnosis of neurological disorders. The section has also developed many educational materials for parents and practitioners to further reference in the care of various conditions. The section works with several AAP committees to develop joint policy statements, practice parameters, and educational programming. Its members also serve as consultants to the AAP to provide comments on organization policies. The section also works collaboratively with the Child Neurology Society and the American Academy of Neurology to serve as co-authors and reviewers for shared practice parameters, guidelines, and policy statements.

Pediatrics and the Evolution of Child Neurology

Tim Lotze, MD, FAAP¹

Affiliation: ¹Professor of Pediatrics and Neurology; Baylor College of Medicine; Chair, AAP Section on Neurology

Highlighted Articles From Pediatrics

• Stokes J Jr, Ward R. Poliomyelitis: a review of its natural history. Pediatrics. 1948;1(1):132-138
• Dehn HM. The age incidence of poliomyelitis in Cleveland. Pediatrics. 1948;1(1):83-89
• McPeak W. Some pediatricians’ views concerning problems of handicapped children. Pediatrics. 1948;1(2):214-220
• Carter S. Diagnosis and treatment: management of the child who has had one convulsion. Pediatrics. 1964;33:431-434
• Carter S, Gold AP. The critically ill child: Management of status epilepticus. Pediatrics. 1969;44(5):732-733
• Steering Committee on Quality Improvement and Management, Subcommittee on Febrile Seizures American Academy of Pediatrics. Febrile seizures: Clinical practice guideline for the long-term management of the child with simple febrile seizures. Pediatrics. 2008;121(6):1281-1286; doi: 10.1542/peds.2008-0939
• Zellweger H, Antonik A. Newborn screening for Duchenne muscular dystrophy. Pediatrics. 1975;55(1):30-34
• Birnkrant DJ, Ward LM, eds. Specialty Care for the Patient With Duchenne Muscular Dystrophy. Pediatrics. 2018;142(Supplement_2): https://publications.aap.org/pediatrics/issue/142/Supplement_2
• Leigh F, Ferlini A, Biggar D, et al. Neurology care, diagnostics, and emerging therapies of the patient with Duchenne muscular dystrophy. Pediatrics. 2018;142(Suppl 2):S5-S16; doi: 10.1542/peds.2018-0333C
• Noritz G, Davidson L, Steingass K, Council on Children with Disabilities, The American Academy For Cerebral Palsy and Developmental Medicine. Providing a primary care medical home for children and youth with cerebral palsy. Pediatrics. 2022;150(6):e2022060055; doi: 10.1542/peds.2022-060055

Over the course of the past 75 years, Pediatrics has published manuscripts that demonstrate the evolution of child neurology from a time during which neurologic diseases were poorly understood and treatments were limited to the present time when etiologies are better defined and targeted gene therapies are emerging. From its inception, Pediatrics has highlighted many manuscripts that have focused on different neurological diseases of children, including 2 articles related to poliomyelitis published in volume 1, issue 1.^1,2 Further demonstrating the importance of Pediatrics, most of the founders of the specialty of child neurology, including Sidney Carter, Phillip Dodge, Bronson Crothers, and Randolph Byers, published their work in the journal.

In tracking the evolution of the field from the journal’s beginning, in Pediatrics volume 1, issue 2, a neuroscience-focused manuscript reported on pediatricians’ views regarding the most unmet needs of children with handicapping conditions.³ The authors noted the need for greater research and treatments for cerebral palsy and related disorders as well as for epilepsy. The authors noted:

“The biggest obstacle to full relief for the handicapped…is the lack of basic scientific knowledge concerning the cause of their diseases. Another obstacle of comparable seriousness is the lagging dissemination…of the scientific knowledge which does exist and of the latest developments in techniques.”

This “lag” in the dissemination of information was certainly a charge taken up by the journal, with the delivery of important reports discussing new discoveries in disease etiology and treatments as well as care guidelines. In 1964, Pediatrics introduced a section providing expert advice for common problems. Dr. Sidney Carter authored a paper related to the diagnosis and management of a first-time seizure in that year.⁴ A second paper in 1969 regarding the management of status epilepticus was authored by Dr. Carter and Dr. Arnold Gold.⁵ While these papers provided excellent recommendations for the practicing pediatrician at the time, reading them in the present highlights the limitations of both the evidence-based care and the evaluation modalities used in that era. Dr. Carter’s discussion on the indications for skull radiographs and pneumoencephalograms contrasts dramatically with current imaging techniques. Similarly, some of the pediatrician’s best tools for identifying an underlying cause relied on their own clinical mastery to identify signs and symptoms of tumors, brain malformations, or phacomatoses, such as tuberous sclerosis. A concluding paragraph in the management of status epilepticus advises, “Electroencephalography is not essential in the acute management…”. At present, one would be ill-advised to forego performing an EEG in the setting of status epilepticus, and many patients require continuous EEG monitoring in the intensive care unit. Subsequent publications, such as the 2008 clinical practice guideline for febrile seizures, outlined how care evolved based on developing evidence.⁶

In 1975, Pediatrics published a study by Drs. Hans Zellweger and Alan Antonik entitled, “Newborn Screening for Duchenne Muscular Dystrophy.”⁷ This appears to be the first peer-reviewed publication that addressed this topic, and it is notable for the sensitivity, simplicity, and low cost of the described technique. The authors found that measurement of the CPK from a dried blood spot could be used as a sensitive screening method for the disease. The authors and their publication were ahead of their time. Citing the importance of an early diagnosis for the purposes of anticipatory guidance as well as recurrence risk counseling, they petitioned without success for this newborn screening technique to be adopted. Over the subsequent 35 years, there were a few other publications in the medical literature on the topic describing methods and supporting the benefits of newborn screening. An early peak in publications was in the 1990s, following the discovery of the dystrophin gene in 1986, but the concept still did not gain traction. In 2018, Pediatrics published a supplement focused on Duchenne muscular dystrophy.⁸ One of the supplement articles reviewing care, diagnostics, and emerging therapeutics again highlighted the many benefits of newborn screening.⁹ With the emergence of more effective therapies that now include gene variant-specific therapies and with the anticipated arrival of gene replacement, Zellweger’s and Antonik’s proposal for newborn screening should become reality in the very near future.

Since its inaugural issue in October 1948, Pediatrics has published more than 2,700 articles related in some way to cerebral palsy. Most recently, in December 2022, Pediatrics published an updated clinical report that provided a comprehensive approach to the care of children with cerebral palsy.¹⁰ This landmark report covered all aspects of care from birth to young adulthood.

Much remains to be learned about neurological disorders in children. However, through these and many other articles, Pediatrics has made a tremendous impact in closing the scientific knowledge gaps. It has continually demonstrated its commitment to the dissemination of research discovery and state-of-the-art guidelines to help clinicians provide the highest quality care for children with neurological disorders.

References

1. Stokes J Jr, Ward R. Poliomyelitis: a review of its natural history. Pediatrics. 1948;1(1):132-138
2. Dehn HM. The age incidence of poliomyelitis in Cleveland. Pediatrics. 1948;1(1):83-89
3. McPeak W. Some pediatricians’ views concerning problems of handicapped children. Pediatrics. 1948;1(2):214-220
4. Carter S. Diagnosis and treatment: management of the child who has had one convulsion. Pediatrics. 1964;33:431-434
5. Carter S, Gold AP. The critically ill child: Management of status epilepticus. Pediatrics. 1969;44(5):732-733
6. Steering Committee on Quality Improvement and Management, Subcommittee on Febrile Seizures American Academy of Pediatrics. Febrile seizures: Clinical practice guideline for the long-term management of the child with simple febrile seizures. Pediatrics. 2008;121(6):1281-1286; doi: 10.1542/peds.2008-0939
7. Zellweger H, Antonik A. Newborn screening for Duchenne muscular dystrophy. Pediatrics. 1975;55(1):30-34
8. Birnkrant DJ, Ward LM, eds. Specialty Care for the Patient With Duchenne Muscular Dystrophy. Pediatrics. 2018;142(Supplement_2): https://publications.aap.org/pediatrics/issue/142/Supplement_2
9. Leigh F, Ferlini A, Biggar D, et al. Neurology care, diagnostics, and emerging therapies of the patient with Duchenne muscular dystrophy. Pediatrics. 2018;142(Suppl 2):S5-S16; doi: 10.1542/peds.2018-0333C
10. Noritz G, Davidson L, Steingass K, Council on Children with Disabilities, The American Academy For Cerebral Palsy and Developmental Medicine. Providing a primary care medical home for children and youth with cerebral palsy. Pediatrics. 2022;150(6):e2022060055; doi: 10.1542/peds.2022-060055