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School-Related Medical Issues Archive 2015-16

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John L. Digges, MD, PhD, MPH, FAAP
(Fellow of the American Academy of Pediatrics)
Behavioral Pediatrician

Dr. Digges practiced general and behavioral pediatrics in Oklahoma and California for 14 years. For ten of the past 12 years, he has served as the Forensic (Child Abuse) Pediatrician for Kern County, California; and he has had a private practice limited to ADHD consultations for the past 12 years. He has been a CME surveyor for the Institute of Medical Quality (CMA) since 2000, and is a recent past-President of the Kern County Medical Society. Dr. Digges has been at the DCN since August, 2008.

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  • Chiari Malformations and Autism

Question:

Hello,

My nephew has high functioning autism. He is four years old. He recently was diagnosed with a Chiari malformation. He will be having surgery at a Bay Area hospital to correct the malformation. We were told that this surgery may relieve some of his autism symptoms. I have tried to research this further but have not come up with much explaining the link between Chiari and autism. Do you know anything about a possible link? What outcomes in terms of his autism symptoms could we expect?
Thank you!

-Alexis Lyon


Answer:

Hi Alexis,

Thanks for your question. There are currently six types of Chiari malformations (named for the Austrian pathologist Hans Chiari, who classified the malformations into three types in 1891), but by far the most common is the Type I (CM-I). In this condition, a portion of the cerebellum (a region located at the back and bottom of the brain) protrudes into the opening at the base of the skull (foramen magnum). The presence of this tissue in the opening restricts the flow of cerebral spinal fluid between the brain and the spinal cord and places increased pressure on the spinal cord and adjacent regions of brain. This increased pressure can lead to a number of symptoms, the most common of which are headache and neck pain; which are typically worsened by coughing, sneezing, laughing or strenuous exercise. Although symptoms usually begin to appear about age 10, they occasionally occur in young children, such as happened with your nephew. Other symptoms which can occur include dizziness, the feeling that things are spinning around you (vertigo), problems with balance, visual disturbances, a sensation of ringing in  the ears (tinnitus), trouble swallowing, sleep disturbances, weakness in the muscles, decreased fine motor skills, a chronic feeling of fatigue, and the sensation of painful tingling in the hands or feet. There may also be problems with articulation and with brain function in the region (reticular activating formation) responsible for regulating an individual’s level of alertness.

Children with autism have problems with social interaction, language development, and restrictive/repetitive patterns of behavior. A young autistic child with difficulty articulating what they are feeling may exhibit a marked change in (or worsening of) their baseline behavior in response to the classic symptoms associated with a Chiari I malformation. There is a report in the literature of 15 pediatric patients with both autism and a Chiari I malformation, that were treated surgically for their CM-I, and all are reported to have demonstrated a marked reduction in the severity of their autistic symptoms following surgery. Behaviors which were reduced included head holding, rocking, attempting to become isolated from their surroundings, striking their head against a wall, irritability and aggression.

A study published in January of 2015 reported on 125 ASD patients who had also undergone magnetic resonance imaging (MRI) of brain. Nine of the patients showed some degree of herniation of the cerebellum into the foramen magnum, and five symptomatic patients were treated surgically.  All five were reported to have had reductions in the severity of their headaches, speech impairments, and irritability.

There was also a report of a project sponsored by the Chiari and Syringomyelia Foundation to study the prevalence of Chiari malformation within the ASD population. The concern expressed was that many children diagnosed early in life with ASD may have worsening of their symptoms as a result of evolving superimposed CM-I symptoms, but the existence of the CM-I may be missed as the symptoms might be attributed to the pre-existing ASD. This entry was dated June of 2013, and I was unable to find any follow-up concerning progress of the project.

If some of the “autistic” symptoms manifested by your nephew were exacerbated by the compression associated with the CM-I, then there may indeed be some reduction in the severity of his behaviors as a result of relieving the pressure. The underlying autism would not be affected, but symptom severity may well be decreased.

I hope this is helpful, and that your nephew does well with his CM-I treatment.

John L. Digges, MD, PhD, MPH, FAAP

Behavioral Pediatrician, Diagnostic Center North

Fremont, California