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Are autism and chiari related?

Autism is a developmental disorder of the central nervous system. Its cause/causes are currently unknown. A number of potential environmental causes have been under recent scrutiny (mercury used as preservative in vaccines, bysphenol. Agenerated from heating plastic bottles for baby feeding, etc.). The incidence of Autism has dramatically increased during the last decades, and it is currently one of the most common pediatric disorders overall, in first world countries.

Chiari I Malformation (CMI) is not a cause of Autism. But its coexistence can make the clinical presentation of Autism worse. Precisely, the CMI symptoms make (in plain english) the autistic pts more miserable, worsening their behavior. Incidentally, Autistic children tend to worsen, whenever ANY other kind of ailment is present (i.e. flu, asthma, bronchitis, etc.)

At TCI, we have so far diagnosed and treated 15 pediatric pts who were affected by both CMI and Autism. Because of the inability to effectively communicate, the clinical impact of the CMI was evaluated through the so-called "headache behavior": the child holding his head (most of them are boys), rocking in a corner after further isolating himself from the surroundings, hitting the head against the wall, having a unusual irritable and/or aggressive behavior. The results of the surgical treatment at TCI were beyond expectations, with the Autistic symptoms improving dramatically, to the point that all the low-function Autistic kids became high-function Autistic pts.

Our recommendation is that Autistic children with significant "headache behavior" should be screened for CMI, since their function can significantly improve after CMI surgery.

Paolo Bolognese, MD

They appear to be independent conditions. One report (Brain Dev. 2006 Sep; 28(8):495-9. Epub 2006 Apr 17) found 1 case of Chiari I malformation in 45 children with developmental disabilities. However, there were no cases of Chiari I malformation in 20 autistic children from this group of 45. The 1 case of Chiari I malformation was found in a group of 12 patients with persistent developmental delay.

Dr. John Heiss

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Is chiari fatal?

There are no official numbers about mortality in CMI patients. The main reason is that most of the doctors see just small numbers of these patients.

The most recurrent pattern in Chiari deaths is the association of severe sleep apnea with extremely high doses of opiates (pain medications). The tolerance for the opiates leads these patients to enormous doses of these drugs, with a narrow margin between therapeutic effect and respiratory depression. (translated in English, there is a small difference between the dose that helps you and the dose that decreases your breathing). The drug-induced respiratory depression associated with sleep apnea is a dangerous combination, and can lead to respiratory arrest. Practically, it is a death by drug overdose in patients with decreased respiratory drive. Seeing from the other angle, it is not the Chiari that kills you, but the circumstances around it.

As a broad statement, and on the grounds of our large database, death due to Chiari is a rare instance.

Paolo Bolognese, MD

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Should patients have physical therapy post Op?

Patients who need physical therapy to improve their physical condition and strength should receive physical therapy. Patients with problems that interfere with their activities of daily living should be evaluated by an occupational therapist.

Paolo Bolognese, MD

I recommend physical therapy if patients need to build up their strength or if they need help with walking. Occupational therapy is helpful for patients with problems with hand strength or dexterity.

Dr. John Heiss

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I have read on the internet about flexible rods for fusion. Have they, or can they, be used in fusion for cervical instability? Rigid rods for fusion have been used for years and fusion rates with them have been quite high.

Rigid rod systems do not allow the bone graft to assume weight bearing as well as flexible rods, which is a theoretical disadvantage with the rigid rod systems. Selection of the type of rod system to use will depend on the experience your surgeon has with each type of system.

Dr. J. Heiss

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A five year old recently had tethered cord surgery, decompression, and VP shunt. He also suffers from regressive autism and his autism specialist has suggested mHBOT. She is not certain if it is safe though for a child who has been decompressed, could you please comment on this?

This therapy would be safe. Parents of autistic children are so desperate to try to help their children that they are ready to pursue a variety of expensive and unproven therapies. If the mHBOT (mild hyperbaric oxygen therapy) is provided to you for free under a research protocol, you can give it a try. Otherwise I would take a pass on that treatment. Intensive behavioral therapy is the mainstay of autism treatment.

Dr. John Heiss

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So often SM'ers are told that a small syrinx doesn't cause pain, when is a syrinx not considered "small"? Even the NIH study has rejected people, saying their syrinx was "too small"

Patients with Chiari I can have symptoms with a large syrinx, small syrinx, or no syrinx. These patients may benefit from craniocervical decompression.

Small syrinxes are difficult to assess because they appear on MRI scans to be identical to the central spinal cord canal, a normal structure. The central spinal canal, being normal, would not cause pain and another cause of the pain would need to be considered. Small syrinxes may result from conditions such as trauma, infection, or inflammation that cause a small amount of injury to the spinal cord. The injury occurs over a short period of time. Pain originates from the injured spinal cord around the small syrinx. The injury that occurred to the spinal cord during the formation of the small syrinx cannot be reversed by surgical treatment and may be made worse by it.

Dr. John Heiss

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Should a Chiari patient have neck manipulations done by a Chiropractor? Is it dangerous?

Despite the fact that some Chiari patients benefited from a trip to the Chiropractor, and many were not helped, a large number of patients were hurt by neck manipulations. When I say "large", I mean this: during the year 2002, we saw more than 700 Chiari patients in the office, and bad stories concerning Chiropractors were only second to bad stories after car accidents. In our experience, Chiropractors have been responsible (in many instances) for: causing the onset of symptoms in formerly asymptomatic Chiari subjects; worsening the pre-existent symptoms; causing postoperative complications.

Gentle manipulations of the neck can be performed by Physical Therapists, or by your partner (or by the milkman, if the partner is at work). The training of Chiropractors seems to lead them to perform manipulations which are too harsh and dangerous for Chiari patients, the cranio-cervical junction of whom is as fragile as Michael Jackson's nose. Be nice to your Turkeys.

Paolo Bolognese, M.D.

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Will CSF retention around the brain make a patient more susceptible to dementia later in life?

It is natural for the brain to become a little smaller with aging as a result of some of the neurons (nerve cells) dying. CSF fills the space left by the loss of brain substance so the CSF spaces expand with aging. However, if the CSF space is larger than normal for one's age, the physician might suspect that the brain may be losing neurons more rapidly than normal, a process called cerebral atrophy, which is associated with dementia. Other considerations are that the CSF is not circulating normally (external hydrocephalus) or the CSF is trapped in the subdural space (subdural hygroma).

Paolo Bolognese, M.D.

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Are drop attacks common in chiari patients?

Drop attacks are not a common presenting feature with Chiari, but certainly can occur and be of several possible causes. Our routine battery includes primarily imaging studies including as you know MRI's of the Brain, Cervical, Thoracic and LS spine. A Cine CSF flow study, flex/ext cervical spine films, AP & lat LS spine films, and 3D-CT of the skull base and upper cervical spine in this case with CT angio or MRI angiography.

Roger Kula, M.D.

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Fibromyalgia, Chronic Fatigue, and CM

Fibromyalgia (FM) and Chronic Fatigue Syndrome are "wastebasket diagnoses".

In a nutshell, they mean:

1. You have pain all over (FM) or you have a low energy level (CFS), in the absence of an identifiable diagnosis.

2. For convenience reasons (and to give the patients some sense of closure), we give these conditions a label (FM and CFS).

Many disorders can cause symptoms which mimic or overlap those of FM and CFS. If you have multiple metastatic lesions in your bones, you will hurt all over. If you have advanced lung cancer, you will be very fatigued even when coping with the normal activities of daily living.

Chiari I Malformation has a clinical presentation which can possibly involve several symptoms, besides the classically accepted Suboccipital pressure headache aggravate by exercise and straining. Diffuse body pain and fatigue are among the symptoms of the CMI spectrum. The electrical circuitry behind these FM-like and CFS-like symptoms is poorly understood, but they indeed improve in several patients after uncomplicated surgery, to various degrees.

The controversy about FM, CFS, and CMI started a decade ago, when the official ranks of organized neurosurgery had the impression that some physicians were overdoing posterior fossa decompression, to provide a tentative "cure" for FM (and/or CFS). The high profile of some media exposures (a 20/20 segment, and an article on the Wall Street Journal) added fuel on the fire. The result was a backlash which affected some professional carriers (with sanctions), put FM and CFS in a murky and off-limit perspective to the American neurosurgeons, and caused a steering towards the right in the overall surgical management of CMI (with most of the experts shifting towards highly conservative criteria for diagnosis and treatment).

Attempts had been made recently to restart the analysis of this highly charged problem. NFRA (National Fibromyalgia Research Association) is the ASAP equivalent for FM. Like ASAP, they have an annual meeting. Dr Rosner (who is back to surgical activity in NC) is a frequent presenter at the NFRA meetings. On occasion of the last NFRA meeting, the preliminary results (meta-analysis) of a study conducted by a group of scientists from the University of Seattle WA (led by Dr Ellenbogen) have been presented; the preliminary data suggested that in their patient population there was an increased association between FM and "borderline CMI " (= minimal tonsillar herniation).

Bottom line:

The relationship between FM, CFS, and CMI is very complex, poorly understood, inadequately investigated, and highly controversial. The topic has been a taboo for neurosurgeons during the last decade. Recently, the problem is being reapproached, in a less emotional and more logical manner.

Paolo Bolognese, MD

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If we wait to have surgery for Tethered Cord Syndrome (TCS), will we have nerve damage?

TCS acts by pulling downwards the inferior end of the spinal cord with a tight (and sometimes thick) filum terminale (which is the rubber band anchoring the spinal cord to the tailbone). The downward pull distorts the area of the cord called conus, causing lower back pain, leg pain, feet numbness, urinary disturbances, and bowel problems.

The natural history of the disease sees the filum pulling, and the spinal cord giving, over the lifetime. The growth spurts of adolescence cause cyclic acute flareups of the TCS symptoms and signs, with severe "growing pains", and bladder and bowel "accidents". When the skeletal growth ends and the subject enters adult life, the balance between tight filum and cord is played over a slower pace, with a slow clinical progression of the signs and symptoms.

In this adult phase (on the grounds of our experience) there is a point of no return, beyond which permanent damage can be left behind even after surgical correction. The exact timing of this point in time is still unclear, but some warning signs are already emerging:

- The urodynamically confirmed diagnosis of neurogenic bladder; - EMG changes in the legs (when not connected to other pathologies); - Foot drop (even when only mild).

TCS can affect the bladder in two ways:

- Hypoactive bladder (with urinary retention) - Hyperactive bladder (with urinary frequency), often mixed with dyssinergia (the bladder contracts without proper coordination). Hypoactive and dyssinergic bladders can lead to hydronephrosis (= a dilation of the major urine channels within the kidneys), which can ultimately cause renal insufficiency.

Our experience is based on a quite large patients' basis. 220 TCS surgeries have been performed at TCI, during the year 2006 alone. During the same year, many other patients have been diagnosed at TCI with milder forms of TCS, but not treated surgically. We have also observed that the majority of the TCS pts diagnosed at TCI had an associated connective tissue disorder (like EDS or Marfan). Patients with a diagnosis of connective tissue disorder (and specially people who underwent craniocervical fusions in the past) need to be screened for TCS.

Paolo Bolognese, MD

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A patient read a study saying that 20% of SM'rs have a life span of 47 years, and average death was from pneumonia. Can you give your thoughts on this?

That information is based on old data from patients with severe, untreated syringomyelia from an era when patients with paralysis commonly died from side-effects of paralysis, such as pulmonary embolism (blood clots to the lung) and urinary tract infections. Patients with paralysis live much longer nowadays. Patients with only mild neurological deficits and successfully treated syringomyelia should lead a normal lifespan.

Dr. John Heiss

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What can we do to avoid symptoms from progressing when seeing a dentist?

Tell the dentist about what positions of the neck are particularly uncomfortable for you. The dentist may be able to position his chair for your maximal comfort. If straining during the procedure is a problem, sedation or nitrous oxide may relax you. Patients with sleep apnea should discuss this condition with their dentist before any procedure under anesthesia or sedation.

Dr. John Heiss

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When Is A Syrinx Too Small?

Patients with Chiari I can have symptoms with a large syrinx, small syrinx, or no syrinx. These patients may benefit from craniocervical decompression.

Small syrinxes are difficult to assess because they appear on MRI scans to be identical to the central spinal cord canal, a normal structure. The central spinal canal, being normal, would not cause pain and another cause of the pain would need to be considered. Small syrinxes may result from conditions such as trauma, infection, or inflammation that cause a small amount of injury to the spinal cord. The injury occurs over a short period of time. Pain originates from the injured spinal cord around the small syrinx. The injury that occurred to the spinal cord during the formation of the small syrinx cannot be reversed by surgical treatment and may be made worse by it.

Dr. John Heiss

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Why do so many doctors not know about Chiari?

People in the general population are much more likely to die from cancer, heart disease, or diabetes than ACM. It is expected that common conditions will be handled routinely and well in medicine. On the other hand, rare conditions are usually treated by specialists. Patients with rare conditions should find a specialist who thoroughly understands their condition and can communicate with their primary physician.

Dr. John Heiss

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During decompression a patient recently had surgery and the tonsils were not touched at all. The surgeon said they would go back up on there own. Is this legitimate? How often is it done and what are your feelings?

49% of the surgeries done at TCI are redo surgeries. Many of them are for persistent tonsillar herniation, after a former surgery in which the tonsils were not touched at all, we do not know:

A) How many total CMI cases have been done nationwide during the last years? B) How many other "failed CMI surgeries" are out there and not yet diagnosed?

The bottom line is that that kind of approach does not work all the times. As a rule, the more aggressive the surgery, the higher the risk of complications, the less aggressive the surgery, and the lower the chances of success.

Paolo Bolognese, MD

This is also my usual approach, unless there is evidence that there is obstruction to CSF flow from the fourth ventricle or significant compression. The tonsils will generally go up, although I do not see that as a crucial aspect of the outcome: relief of compression and restoration of the subarachnoid space are more important in my opinion. My concern about resection of the tonsils is that it may promote scar tissue formation that may in turn re-obstruct the CSF space.

Marcus Stoodley

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Some people have heard of others using some sort of patch during TCS surgery. Is this ever done?

TCS surgery for filum terminale does not require patches TCS surgery for other kind of tetherings (post surgical or postmeningitic) often do.

Paolo Bolognese, MD

Not if it is simply division of the filum. A patch could be considered if there is a problem with the subarachnoid space, for example if the cause of tethering was actually adhesions.

Marcus Stoodley

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How many chiarians have just the acm without any complicating factors or is this fairly common?

It depends who is the reviewer. Clinicians with limited experience often miss complicating factors. Super specialized centers tend to attract the most complicated cases.

We will never have a good estimate.

Paolo Bolognese, MD

It's fairly common for Chiari patients to present only with symptoms directly related to the Chiari such as occipital headache and visual or hearing disturbance.

Marcus Stoodley

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Have any of your patients had Chiari symptoms that have been resolved from the release of the cord?

Yes, in many cases, whenever the TCS was the only cause of the tonsillar herniation

Paolo Bolognese, MD

No, not the symptoms that are generally considered to be caused by compression at the craniocervical junction

Marcus Stoodley

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How is CEREBELLAR PTOSIS diagnosed and treated?

The key is to identify its cause. The rest is consequential

Paolo Bolognese, MD

An MRI is the usual diagnostic test, and this is combined with clinical features. I think adhesions at the site of prior surgery are more commonly a problem than ptosis.

Marcus Stoodley

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Is Cushings disease is being found frequently in Chiari patients. If it is, what symptoms overlap?

I have not seen any association between Cushing’s disease and Chiari I malformation reported in the medical literature. Cushing’s disease is caused by a type of pituitary tumor that secretes too much ACTH; the ACTH causes the body to produce too much cortisol, which leads to obesity, hypertension, and hyperglycemia. On the other hand pituitary tumors that secrete growth hormone have been associated with Chiari I malformation. Chiari I malformation has also been seen in patients with reduced function of the pituitary gland.

Dr. J. Heiss

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What are some cardiac manifestations of CMI?

Heart and brain are linked at many levels. Many of the neural circuits involved in modulating the functions of the heart are anatomically located in the same "neighborhood" of CMI. Plus, a dysfunctional heart can affect the brain, by falling short in providing an adequate supply of blood (with right pressure, oxygenation, and amount of nutrients).

On the grounds of our experience at TCI, not any tonsillar hernation can give cardiac problems. Large tonsillar herniations which exert a significant mass effect on the inferior part of the brainstem (medulla), generally are the culprits in triggering arrhythmias. Supra-Ventricular Tachicardias (or SVT"s) are the most common arrhythmias in CMI patients. Arrhythmias are "felt" by the CMI patients as palpitations.

If CMI is compounded by retroflexion of the odontoid, basilar impression, basilar invagination, with or withour cranial settling, then the patients are at risk of Postural Orthostatic Tachicardia Syndrome (POTS). In these patients, whenever the position changes from supine to sitting, or from supine to standing, the heart rate accelerates drastically; in its frantic frenzy, the heart fails to move an adequate amount of blood, and the blood pressure drops; inadequate blood pressure to the brain causes debilitating dizziness, and the patient has to lie down supine again.

In extreme cases, cardiac pacemakers have to be inserted. Only 9 patients of the large TCI database have a pacemaker in place.

We did not observe any higher incidence of Myocardial Infarction (MI) in CMI patients.

Paolo Bolognese, MD

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Why is the Chiari Malformation Frequently Unrecognized or Ignored?

Many persons are frustrated when physicians don't understand or ignore the diagnosis of Chiari I malformation (CMI). This often leads to visits to multiple physicians and increases frustration and disillusionment with the health care system. In one of our analyses, we noted an average duration of symptoms before correct diagnosis was 6 years. There are multiple reasons for the lack of understanding of the Chiari I malformation in the medical community including the following.

1. Little time is spent in medical school on the Chiari malformations.

With thousands of medical diseases and disorders and limited time, medical education is often focused on the major diseases such as cancer, heart disease, stroke, gastrointestinal disease, urological or gynecological disorders, and trauma. CMI, previously considered rare, is often given a limited, if any, place in the medical curriculum. Even now with the increasing recognition of CMI, it will take time for medical school curriculums to adjust.

Another factor is the trend to fewer lectures and more individual case studies which, while allowing more in-depth study of specific disorders, further reduces the total number of disorders a medical student studies. The move to a case-study approach occurred due to the recognition that physicians will never learn all the disorders in medical school and must become lifelong learners. Thus, organizations promoting education in the Chiari malformation and syringomyelia, now have a greater role and responsibility in continuing the education of medical professionals.

2. The clinical presentation of CMI is broad and variable.

Patients with neurological disorders often present with a number of symptoms and findings on examination which, in medical terms, is called the clinical presentation. Many neurological disorders have characteristic symptoms that are usually recognized by physicians. For example, the condition of Normal Pressure Hydrocephalus (NPH) has only three important clinical findings: dementia, difficulty walking, and bladder problems. However, persons with CMI usually have multiple symptoms, and the symptoms may differ from one person to the other. Thus the clinical presentation of someone suffering from CMI can vary widely.

In one of our studies we showed over 40 different symptoms may occur, and even this list is not complete. Compare that to our example of NPH with only three key symptoms and one begins to see the difficulty in suspecting the presence of a Chiari malformation.

3. A cursory neurological exam is often normal.

Major neurological abnormalities are often absent in patients with the Chiari I malformation and a brief neurological examination is often normal. Since physicians rely on detecting abnormal neurological findings in order to diagnose most neurological disorders, the lack of obvious findings in many patients with CMI can lead physicians to conclude that nothing is wrong.

However, on more careful evaluation, neurological deficits are often found and may include nystagmus, double vision, facial numbness, loss of gag reflex, subtle weakness in the extremities or decreased sensation. The reflexes may be abnormally brisk, or heel-to-toe walking may be unsteady. With eyes closed, a patient may loose their balance when gently tapped by the physician. Headache may be worsened with bending forward or looking up.

Other disorders can cause the symptoms seen in CMI.

Patients suffering from the CMI often have multiple symptoms. However, each symptom can be caused by other disorders. After the patients symptoms are determined and a neurological exam is performed, the physician considers the multiple disorders that may cause similar symptoms and findings. This is called the differential diagnosis. The differential diagnosis of patients evaluated for the CMI is large and includes disorders such as:

Chronic fatigue syndrome
Cluster headache
Degenerative cervical disc disease
Fibromyalgia
Hydrocephalus
Lyme disease
Migraine
Multiple sclerosis
Occipital neuralgia
Peripheral neuropathy
Pseudotumor cerebri
Post-concussion syndrome
Posterior fossa arachnoid cyst
Psychiatric disease
Sleep apnea
Spinal CSF leak
Vasculitis

While some of these disorders have only a few symptoms that overlap with CMI, others, such as pseudotumor cerebri, have many symptoms in common. Thus, without an MRI, making the diagnosis of CMI can be difficult.

The Chiari malformation may be reported as "incidental" by some radiologists. Unfortunately, even if an MRI shows the presence of a Chiari I malformation, it may still not be recognized as an important finding if the radiologist preparing the scan report uses the word incidental. Incidental means that something has been found, but is of no importance. Since saying that something is of no importance is a clinical decision, the decision should not be made by the radiologist since they have not taken a clinical history or performed a careful neurological examination on the patient.

When the physician who ordered the test reads words such as "normal scan, incidental Chiari malformation", they can get thrown off the track and believe nothing of importance was found on the scan. Imagine, scheduling a scan for a person complaining of worsening headaches and essentially being told that there was nothing found other than an "incidental Chiari". Even if the Chiari malformation is not the cause of the headache, the decision of the relevance of the finding should be made a physician that has interviewed and examined the patient. If the physician examining the patient is unfamiliar with the Chiari malformation, the patient should be referred to a neurologist or a neurosurgeon who is.

Even some neurologists or neurosurgeons discount the importance of CMI. In some cases, the family physician appropriately orders an MRI that reveals a Chiari malformation and appropriately refers the patients to a neurologist or neurosurgeon, only to find that the diagnosis is discounted. The reasons for this are complex and difficult to understand. One cause is the lack of training on CMI in some neurology and neurosurgery training programs. But there seems to be more to it than this.

Some neurologists and neurosurgeons are not aware that some patients may have a number of neurological symptoms from what may appear on MRI to be only a "mild" Chiari malformation. Many, may not be aware, or may not have access to a specialized MRI called the CINE flow study that can help determine if there is spinal fluid obstruction and therefore increasing the possibility that the "mild" Chiari is responsible for the patients symptoms.

Thus, there are a number of reasons why many physicians, and even some neurologists and neurosurgeons, don't understand or ignore the Chiari malformation. Much work remains to be done. This organization has been established to enhance our knowledge of CMI and related conditions and is an important part of the solution.

Dr. Oro, MD

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