Chiari Malformation, Brain Injury, Autism and Epilepsy!

Do you experience chronic headaches, migraine, feel like your head is going to explode….. then for your health, read on.

Chiari malformations are a neurological disorder that often crosses with, other neurological diseases. If you have Ehlers Danlos syndrome, MS, Fibromyalgia, Chronic Fatigue, Lupus, Migraines, Carpal Tunnel Syndrome and ALS, you might also have a condition that isn’t widely known, and that condition is Chiari Malformation.


Chiari malformations are structural defects in the base of the skull and cerebellum, the part of the brain that controls balance. Directly under the cerebellum, there are what’s called tonsils. The picture above helps to highlight what this looks like. Normally the cerebellum and parts of the brain stem sit above an opening in the skull that allows the spinal cord to pass through it (called the foramen magnum). When part of the cerebellum extends below the foramen magnum and into the upper spinal canal, it is called a Chiari malformation (CM).

CM may develop when part of the skull is smaller than normal or misshapen, which forces the cerebellum to be pushed down into the foramen magnum and spinal canal. This causes pressure on the cerebellum and brain stem that may affect functions controlled by these areas and block the flow of cerebrospinal fluid (CSF)—the clear liquid that surrounds and cushions the brain and spinal cord. The CSF also circulates nutrients and chemicals filtered from the blood and removes waste products from the brain.


CM has several different causes. Most often it is caused by structural defects in the brain and spinal cord that occur during foetal development. This can be the result of genetic mutations or a maternal diet that lacked certain vitamins or nutrients. This is called primary or congenital Chiari malformation. It can also be caused later in life if spinal fluid is drained excessively from the lumbar or thoracic areas of the spine either due to traumatic injury, disease, or infection. This is called acquired or secondary Chiari malformation. Primary Chiari malformation is much more common than secondary Chiari malformation



Headache is the hallmark sign of Chiari malformation, especially after sudden coughing, sneezing, or straining. Other symptoms may vary among individuals and may include:

neck pain
hearing or balance problems
muscle weakness or numbness
difficulty swallowing or speaking
ringing or buzzing in the ears (tinnitus)
curvature of the spine (scoliosis)
problems with hand coordination and fine motor skills.

Some individuals with CM may not show any symptoms. Symptoms may change for some individuals, depending on the compression of the tissue and nerves and on the build up of CSF pressure.


The links to Autism

In children with autism spectrum disorder (ASD), diagnosing CM-I can be a challenging task. Moreover, even if symptomatic, some patients do not undergo further evaluation or management, as their presentations are attributed to autism and its myriad symptoms.

Behaviour symptoms

Children and teenagers with ASD include:

Refuse or ignore requests

Behave in socially inappropriate ways, like taking their clothes off in public

Aggressive or have tantrums

Engage in self-stimulatory behaviour, like rocking or hand-flicking
hurt themselves or other children – for example, by head-banging or biting.

Children and teenagers with autism spectrum disorder (ASD) might behave in challenging ways because they:

Have trouble understanding what’s happening around them – for example, what other people are saying or communicating non-verbally

Don’t have effective ways of communicating their own wants and needs, which leads to frustration

Are very anxious.

Children cannot always verbalize what they are feeling, sometimes the first clue is lack of proper development, either physically or cognitively Some children will bang their heads when they can’t verbalize that their head hurts.

Symptoms may also show in changes in behaviour, attitude, and affect!

MRI requires the patient to remain still for an extended period of time which is not easy for a young child; young children may need to be anesthetized. In older children, unusual presentations of scoliosis are a strong indication that an MRI should be performed

Challenging behaviour in Autism and Asperger’s could be associated with a spinal malfunction such as CM. Parents who have a child with CM and ASD have reported huge changes in their child’s behaviour and temperament, often showing inhibited reactions of RAGE and Aggressive outbursts!

Clinically, I have observed non-verbal head banging in ASD children, where CM has  not been assessed because of the difficulty in keeping still for MRI, yet head banging is the child’s voice, expressing pain in the head! As CM affects balance, the vestibular (sense of balance) system should be thoroughly evaluated.



Missed Diagnosis occur when physicians ascribe initial symptoms to stress or other factors. Unfortunately, some patients are told their symptoms are psychological in nature. In other cases, patients are told that Chiari is not the cause of their symptoms or that Chiari is nothing to worry about and they were just born that way.

Misdiagnoses occur when the many possible symptoms of Chiari are associated to other conditions, such as: MS, Fibromyalgia, Chronic Fatigue, Lupus, Migraines, Carpal Tunnel Syndrome and ALS (Lou Gehrig’s). These associations cause confusion to the medical situation and can result in critical delays in getting proper treatment.

Studies estimate that nearly one-third of people with autism spectrum disorder also have epilepsy. However, until recently, there was only limited clinical research on the connection between these two neurological conditions. There are also limited studies on the connection between Autism, epilepsy and CM. Although their associated symptoms and the related head banging, clearly shows a direct correlation in many non- verbal autistic children, which can be an indicator of a spinal cord compression, connected to CM.




As CM is an inflammation of the tonsils at the base of the spine, surgery may be the only option to reduce symptoms as there is no known cure for this debilitating disease. The purpose of surgery is to remove the enlarged tonsil and allow the CSF to flow around the brain.






Chiari malformation I and autism spectrum disorder: an underrecognized coexistence Mayur Jayarao, MD, MSc,1 Kristin Sohl, MD,2 and tomoko tanaka, MD1
1Division of Neurosurgery, University of Missouri School of Medicine; and 2Thompson Center for Autism and Developmental Disorders, University of Missouri, Columbia, Missouri

The Autism-Epilepsy Connection (Op-Ed)
By Dr. Megdad Zaatreh, medical director, Comprehensive Epilepsy Center at CentraState Medical Center | May 29, 2014 03:14am ET



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