Screen routinely for central neurologic disorders

Pediatricians are the frontline providers for identifying neurologic problems in neonates and infants.

In a session titled “Big problems in baby brains: Neurologic diagnosis and management” at the American Academy of Pediatrics National Conference and Exhibition on September 18, Susy S Jeng, MD, FAAP, outlined practices that pediatricians should be incorporating routinely in their evaluations as a screen for neurologic problems. Her focus was on macrocephaly, brachial plexus injury, hypotonia, global developmental delay, seizures, and neurocutaneous disorders.

“It is important that pediatricians be on the lookout for these findings so that they can make a timely, appropriate referral to a pediatric neurologist. In addition, pediatricians should be aware of the differential diagnosis for the signs and symptoms of these problems so that they can counsel the family,” said Jeng, clinical assistant professor of Neurology and Neurological Sciences, Lucile Packard Children’s Hospital, Stanford University, Palo Alto, California.

Jeng reminded pediatricians that immediately after identifying macrocephaly, the infant should be evaluated for signs of increased intracranial pressure.

To identify a potential brachial plexus injury, pediatricians should always check neonates for an asymmetric Moro reflex, and later in office examinations they should routinely ask parents whether the infant is using both hands equally. “Brachial plexus injury is one of the most common birth injuries. It causes weakness in one arm that can be detected by checking the Moro reflex which prompts the baby to move both hands simultaneously,” Jeng said.

Evaluation of birthmarks as a sign of an underlying neurocutaneous disorder is a routine part of the newborn physical examination, Jeng noted. Because the pigmented and vascular skin lesions associated with these conditions are not always present at birth, pediatricians should always undress babies fully in the office and ask older children about their “birthmarks,” she said.

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If a baby appears floppy or hypotonic, Jeng said pediatricians should consider both central and peripheral nervous system problems as the potential cause. She also reminded pediatricians that “funny movements” are common in babies, and not all “shakes” are a sign of seizures. Getting a good history about when the movements happen and asking parents to videotape the episodes can be helpful for making a diagnosis.

“Because early treatment of infantile spasms is associated with a better developmental outcome, it is always prudent to get an urgent referral to neurology and an electroencephalogram if you are suspicious for seizures,” Jeng said.

Discussing evaluation of a child with global developmental delay, defined as a significant delay in 2 or more developmental domains, Jeng said that current concepts support genetic testing as a diagnostic tool before sending the child for magnetic resonance imaging (MRI).

“The American Academy of Neurology and Child Neurology Society guideline on diagnosis of the child with global developmental delay had recommended neuroimaging with MRI as part of the initial diagnostic evaluation. However, available evidence indicates that genetic testing has a comparable yield to MRI and its risks are lower,” Jeng said.

NEXT: Commentary

Commentary

In the session “Big problems in baby brains: Neurologic diagnosis and management,” Dr. Susy Jeng does a nice job of highlighting some common problems that pediatricians will definitely encounter in their evaluation of infants in the clinic.

The discussion of what practitioners can do to screen for these presentations in the office is particularly helpful. In that regard, reminders about measuring head circumference to check for an “abnormally large or small head” and assessing the Moro reflex to identify a brachial plexus injury are excellent. In talking to community pediatricians, I always emphasize as well that assessment of the typical deep tendon reflexes should be a vital part of their developmental assessment and well-baby check examinations, and this is especially important in the hypotonic infant.

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Recommendations about what testing to do first in a child with developmental delay seem to be ever changing as genetic testing becomes more and more specific, and so Jeng’s review of current guidelines is also very useful. At times, however, obtaining insurance coverage for performing genetic testing prior to MRI can be a difficult path to navigate. This is a situation where referral to a child neurologist can be very helpful.

We are also now in a rapidly changing and exciting era as novel treatments are being developed for what were previously untreatable neurologic disorders in children. Pediatricians are, in essence, the “first responder” for a child presenting with a neurologic problem. Their focused evaluation and examination can be the key for these young patients getting diagnosed early in their presentation and allowing them to receive early treatment that may lead to better outcomes for children affected by some severe neurologic disorders.

-Nancy Bass, MD, is program director, Pediatric Neurology, University Hospitals Cleveland Medical Center, Cleveland, Ohio, and associate professor, Pediatrics, Case Western Reserve University School of Medicine, Cleveland, Ohio.