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ATRESIA MICROTIA & YOUR CHILD

Chapter 3: Testing and Evaluation

 

It became apparent early in my work with CAAM that a standardized evaluation and classification system was needed for the condition to:

  • Standardize the systematic evaluation of each patient
  • Support efficient communication among medical professionals and treatment locations
  • Promote accurate conclusions from treatment outcomes so we can better advise new patients on treatment plans

 

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The article above[iv] outlines such a system I put together with other team members called HEAR MAPS, which stands for:

  • Hearing: Based on the results of the child’s hearing test (audiogram), this measures the function of both the inner ear hearing nerve and the amount of hearing loss that the anatomical abnormality from CAAM has produced.
  • External Ear: Describes the severity and type of outer ear malformation.
  • Atresia Score: Based on a 10-point scale and determined from a special type of X-ray of the inner ear known as a CT scan. This score aids in determining candidacy for the surgical creation of an ear canal, as well as correlates with the expected hearing outcome after successful canal surgery.
  • Remnant Lobe: Measures the amount of ear lobe tissue present.
  • Mandible: Determines if the jaw bone is formed correctly or if it needs treatment too.
  • Asymmetry of Facial Soft Tissue: Determines if the non-bone facial tissue is formed correctly or needs augmentation to look more symmetric.
  • Paralysis of Facial Nerve: Determines if any abnormality is present in the muscular movements of the face, due to an abnormality of the facial nerve, which runs through the ear.
  • Syndromes: Identifies any known gene abnormalities that are present which have caused CAAM and may cause other body system issues.

 

Every child should have an evaluation to determine every letter of the HEAR MAPS acronym to evaluate the best treatment options for their condition.

I also had a customized database created so we can track HEAR MAPS scores for every patient. This allows us to be scientific about our recommendations regarding what treatment works best for each combination of HEAR MAPS scores. The database now has more than 5,000 patients from around the world and serves to guide many of the recommendations you’ll see in the rest of this book.

Let’s take each section of HEAR MAPS separately and describe the process of evaluation. Our goal is to have a complete HEAR MAPS score to allow individually customized treatment planning. As you’ll see, a complete HEAR MAPS score can be determined at 2.5 years of age or older.

Hearing (H)

Hearing tests are important for two major purposes. First, they allow us to determine whether the function of the inner ear, or hearing nerve, is normal. Second, certain types of tests allow us to quantify the amount of hearing loss caused by the outer ear and ear canal abnormalities present in CAAM. Both ears should be tested, whether or not each is affected by CAAM. In experienced centers, testing can be completed as early as a few hours after birth onward. Different tests are needed at different ages. This section is long and technical, so don’t worry if you only skim it—you can rely on a professional adept at testing children to provide us with this data. I include it because it also outlines criteria to evaluate potential testing facilities and which tests you should make sure your child receives.

When Should My Child Get Tested?

Hearing evaluation can be performed within a few hours of birth. It is recommended that you test your child’s hearing as close to birth as possible.

 

Where Should We Go for a Hearing Test?

Hearing can be tested at any age if the testing facility has the right objective testing equipment and personnel.

Hearing testing in young children requires experienced, highly trained, and talented pediatric audiologists and otologists, as well as expensive and delicate equipment. Many hearing centers lack the facilities, personnel, or equipment to conduct the required tests.

Because these test results are crucial for
diagnosing and treating hearing impairment, it’s essential to travel, if necessary, to a facility where such testing is performed on a routine basis.

What Data Should the Evaluation Process Cover?

As early in your child’s life as possible, a hearing test needs to evaluate:

  • The health of the hearing nerve: Typically, children with CAAM have a normally functioning hearing nerve.
  • The amount of hearing loss: Children with CAAM generally have severe hearing loss from the ear canal abnormality. In the case of single-sided CAAM, it is also important to test the hearing of the unaffected ear.

Twenty-three percent of patients with
single-sided CAAM that Global Hearing has evaluated also have abnormal hearing in the unaffected ear.

Fortunately, hearing loss in a non-affected ear can often be treated simply and quickly. Once a hearing impairment is suspected, the type and severity must be determined as soon as possible.

Categories of Hearing Tests

Your pediatric audiologist will use one or more of the following tests to determine if your child has a hearing impairment. In some cases, more than one test may be necessary to be 100% certain of the presence, type, and severity of the hearing impairment. Tests may be repeated several times to confirm the first test’s findings, or to chart the course of progressive hearing impairment. Different tests may be needed at different ages.

Hearing tests fall into one of two categories. Briefly summarized below, we also explore them in the following sections.

  1. Subjective testing relies on your child’s behavioral responses to sound stimuli. Since subjective testing requires a participating, alert test subject, it’s generally used with older children and adults.
  2. Objective testing does not rely on your child’s conscious expressive reaction. Instead, it measures electrical responses generated by the patient’s hearing system and/or brain to determine if sound is being received and processed. As you may guess, young infants need objective testing. Because children must be soundly asleep and still for optimal results, this testing can be coordinated around nap time.

Sometimes, both types of tests are needed. Other times, just one is sufficient.

Your audiologist and otologist should be able to determine which kinds of tests your child needs. This is why it’s important to trust your medical professionals!

Subjective Testing

Older children with some level of receptive language participate in subjective tests by raising their hands when they hear a beep. With younger children who cannot yet communicate, pediatric audiologists watch behavioral indications to determine which sounds children respond to. Examples include:

  • Head turning
  • Eyes widening to a sound
  • A conditioned response that children show in response to other sources of stimulus, like seeing a toy

In general, children are old enough to accurately respond to a complete audiogram test when they are two to three years old.

Types of Subjective Tests

Several types of subjective tests exist for hearing impairment.

Audiogram

The most common type of subjective hearing test, an audiogram, determines both the status of the hearing nerve and what children hear in normal everyday situations.

A complete audiogram includes four tests:

  • Bone conduction
  • Air conduction
  • Immittance
  • Speech discrimination testing

Bone Conduction

Bone conduction measures the hearing nerve’s ability to receive sound. (Impaired hearing nerves indicate hearing impairment.) Each ear is tested independently.

During the bone conduction test, a medical expert will place a device on your child’s forehead or skull behind the ear. The device vibrates, and vibrations travel through the skull to the inner ear. If the inner ear nerve fibers receive and convert the vibrations into electrical impulses, the signals will continue to the brain and the child will respond. If the inner ear nerve fibers do not work, the child will not respond.

Air Conduction

Air conduction measures sounds heard through the ear canal. A medical expert will place a probe in or over your child’s ear canal. The probe emits sounds at different levels of vibration and volume, and your audiologist will eventually be able to determine the softest noise that your child can detect at different frequencies.

Both ears are tested independently.

 

Immittance

Immittance tests use a probe in the ear canal. Obviously, this test works only for children with ear canals and eardrums. It is valuable for determining the cause of hearing loss in unaffected ears in the case of unilateral CAAM.

The test is quick and painless. It can be done even in young infants and even when patients are awake. A tiny loudspeaker emits sound waves, and an air pump generates varying the pressure in the ear canal. A microphone interprets responses.

By varying the pressure of the ear canal, it is possible to measure how sound bounces off the eardrum. The results indicate the status of the middle ear space.

  • Normal middle ear space is only filled with air, which allows the eardrum to vibrate appropriately.
  • Fluid or any other material in the middle ear space will constrain vibrations.
  • In addition, the function of two small muscles attached to the middle ear bones can also be tested with the immittance probe. It provides information about the cause of certain types of conductive hearing impairments.

 

Immittance testing results are recorded in a graph called a tympanogram.

Speech Discrimination Testing

Speech discrimination tests are usually given to children and adults who have both receptive and expressive language. It goes without saying that it’s difficult for infants to participate.

In such tests, a medical professional says a word, phrase, or sentence, and patients respond by repeating what they think they heard. Test results are evaluated by the accuracy of words and phonemes. (Phonemes are subcomponents of words.)

For example, suppose the audiologist says the word “rake,” and the patient repeats the word “rate.” That patient would receive a score of 0 in the word category because the word they repeated was incorrect. The patient would receive a score of 1 out of 2 possible points for phonemes because the patient accurately repeated the “ra” phoneme correctly.

Interpreting an Audiogram

Your audiologist and otologist can interpret your child’s audiogram and should be able to explain the results to your family. This subsection is for parents who want to better understand how to read an audiogram.

The below image features the results of one child’s audiogram. This child has CAAM. The numbers along the “y axis” on the left indicate the decibel (dB) level of sounds that child received during testing, more commonly known as the volume. The numbers along the top “x axis” of the diagram indicate the frequency of those sounds. The louder a sound needs to be for a child to hear it, the worse that child’s hearing loss.

In this diagram, the line connecting the red triangles represents the hearing nerve’s function, which is healthy and normal. The line connecting the green dots represents the level of the child’s conductive hearing loss due to CAAM. The yellow dotted line represents where normal conversational speech generally occurs. The gap between the two lines is known as the “Air-Bone Gap,” which signifies a conductive hearing loss. This type of loss can be mimicked in a normal ear by plugging the ear canal with a finger.

Air Bone Gap

An example of air and bone conduction levels as depicted on an audiogram. The red line represents bone conduction levels, or hearing nerve function; the green line represents air conduction levels. The gap between the two lines indicates a conductive hearing loss, characteristic of CAAM. The yellow line represents hearing levels if the ear canal were plugged with a finger.

 

As you can see, this patient’s ear only hears at volumes of 60 dB or louder, such as shouting. That means the patient does not hear normal conversational speech.

Conditioned Play Audiometry (CPA)

Conditioned Play Audiometry (CPA) utilizes the same basic testing parameters as a regular audiogram. However, an essential component of CPA testing involves conditioning a child to look at an interesting toy when a sound occurs. During conditioning, the toy generally uses motion and lights at the same time as a sound is made. Once the initial training is complete, the pediatric audiologist can tell when the child hears a sound by working in reverse. When the child expectantly turns to the toy, the tester plays a sound. If the child turns away from the toy toward the sound, this is confirmation that the child has heard the sound. CPA testing can generally be performed in children from 1 ½ to 2 years of age.

Objective Testing

Objective testing uses electrical or mechanical signals to confirm that the patient has heard a sound instead of conscious expressive feedback from patients during testing. This kind of testing is, therefore, suited for infants or other children too young to communicate what they hear, and when. It is also well-suited for patients who have other medical conditions, such as autism, that may prevent them from effectively participating in subjective testing.

How Does It Work?

In infants, the pediatric audiologist exclusively measures electrical responses generated by the patient’s hearing system and/or brain to determine if sound is being received and processed. Infants must be soundly asleep and remain entirely motionless for optimal objective testing results to be determined. If not, muscle activity will produce electrical activity that can overwhelm the tiny signals coming from the brain’s hearing signals.

For this reason, objective tests are generally coordinated around nap time and make use of over-the-counter medications that cause drowsiness, such as Benadryl. Sometimes sedation and even general anesthesia are required to complete objective testing.

Types of Objective Hearing Loss Tests

There are three most common types of objective hearing loss tests.

Auditory Brainstem Response (ABR)

An ABR is the most commonly used objective test for determining if hearing impairment is present. ABR tests produce results by generating several hundred broadband sound clicks and recording the responses. These responses sound like tic-tic-tic sounds. They are supplied to the ear with either a bone conduction device to test hearing nerve function or by air conduction in or over the ear canal.

Up to hundreds of clicks are released. As sound travels from the ear to the brain, the brainwaves can be measured by sensitive electrodes on the scalp and forehead. When sound is “heard,” a waveform of standard configuration is produced. If no sound is “heard,” no waveform is produced.

Because ABRs cannot provide as much specific information about each frequency as an audiogram, they are usually used to determine whether the hearing nerve functions normally.

Because the test measures tiny electrical impulses, and muscle movement of any kind generates electrical impulses, the test subject must be still during the test. This can only be accomplished during sleep or sedation for accurate results. In most cases, young children can have the test performed during a nap. Children who have trouble staying still will need sedation or sometimes general anesthesia for test accuracy.

Test duration is generally one to two hours and requires the pediatric audiologist to pick the correct waveforms.

Auditory Steady State Response

An Auditory Steady State Response (ASSR) examination uses some of the same equipment as an ABR examination. It is a newer technology that has been commercially available in the United States since it received FDA approval in 2001. Global Hearing provides ASSR tests instead of ABR tests because we believe the test is more effective.

Instead of presenting sound using broad or narrow band sound clicks, an ASSR varies its sound output, both in intensity and in slightly lower and higher frequencies simultaneously. A sophisticated computer analysis produces data records in a format similar to an audiogram like the one above—with more detailed results about specific frequencies of the hearing impairment.

Again, the ASSR test requires the subject to be still. ASSR testing can be performed faster than ABR testing, usually requiring one hour to complete. Not all centers currently have this technology available with adequately trained pediatric audiologists.

Oto-Acoustic Emissions (OAE)

As discussed, nerve receptor cells in the cochlea (also known as the hair cells) take the vibrational sound of energy traveling in the inner ear and turn it into electrical impulses. The hair cells transmit electrical energy to the auditory pathway, where it is carried into the brain for processing. As the hair cells receive and transform the vibrational energy, they have a tiny “twitch.” The tiny hair cell twitches produce a miniscule sound—which is transmitted in reverse from the inner ear, through the middle ear bones, and back out to the eardrum—where it is released into the ear canal.

This type of testing can only be done when a normal ear canal and eardrum are present, so it’s only used in the non-affected ear in CAAM patients. The sound produced by the tiny twitches is far too small to hear with our own ears. However, delicate instrumentation can detect and measure this sound.

Think of old submarine movies where the sonar man sends out a “ping” and waits for the sound to return. In a crude way, that’s what the Otoacoustic Emissions (OAE) test does. Returning pings (or otoacoustic emissions) indicate twitching hair cells are present and active. As most sensorineural hearing impairment involves some disorder of hair cell function, this is extremely useful information. In a practical sense, if an otoacoustic emission is heard, we know the patient has hearing in the 0–25 dB range, considered within normal limits.

Several sources can cause inaccurate OAE test results. Fluid in the middle ear will overwhelm the sound generated by the tiny otoacoustic emission and can erroneously indicate an inner ear hearing impairment. Therefore, it is essential for this examination to be interpreted in light of other types of hearing tests by a qualified physician or audiologist.

Back to the “H” in HEAR MAPS

Two numbers accompany the “H.” The first is the score of the hearing nerve function (also called bone conduction because of the way it is generated). The second is the score of air conduction testing using the following categories:

  1. 0–19 dB
  2. 20–29 dB
  3. 30–39 dB
  4. 40–49 dB
  5. 50–59 dB
  6. 60–69 dB
  7. >70 dB

A person with normal hearing would be an H1.1, where both the hearing nerve and air conduction are normal. Someone with CAAM might have an H1.7, showing the hearing nerve is normal and the air conduction shows a severe decrease in hearing, which indicates a large conductive hearing loss. By using this shorthand method, we quickly document and communicate a patient’s hearing status during our evaluation based on hearing tests previously performed.

It is easy to focus on the affected ear in unilateral CAAM situations. Don’t, however, forget to test the other ‘normal’ ear! In our patient series, 23% of “normal” ears had a hearing loss. Since this is the only ear that provides hearing before treatment of the CAAM ear, it can have a big effect on how clear spoken language pronunciation becomes. If a small hearing loss is present in the normal ear, it must be known, as it affects the treatment plan.

External Ear (E)

When microtia is present, the formation of the outer ear (also called the pinna) can vary widely, from normal all the way to complete absence of the outer ear. For this reason, we categorize the amount of malformation as part of the evaluation process in the following categories:

  • E1: Normal
  • E2: Mild malformation
  • E3: Moderate malformation
  • E4: Severe malformation or absence of any outer ear

Microtia is graded by the severity of the malformation into four types.

Most patients with CAAM have an E3 categorization of the microtia malformation. Patients who have an E1 and some patients with an E2 category do not require outer ear reconstruction.

In general, the more of the outer ear that is present, the higher the likelihood that a patient is a candidate for surgical creation of an ear canal. Of course, some exceptions exist.

Because the outer ear appearance does not guarantee the degree of formation of the middle ear (and due to other reasons you’ll hear about further on), a CT scan must be performed to determine the potential for a surgically reconstructed ear canal. Some E4 patients will be candidates for ear canal surgery. Roughly 75% of E3 candidates are surgical candidates. A high percentage of E2 patients can have an ear canal if that path of treatment is chosen. However, it is impossible to determine if a patient is a candidate for certain treatments based on the outer ear appearance alone.

Atresia Score on CT (A)

CT scans are a special type of x-ray that allows us to see the middle and inner ear anatomy and determine the chance of success of making an ear canal. Scans are done when patients are still and take only a few minutes to complete. In small children, it’s possible to complete scans at nap time, but depending on the activity level of your child, sedation may be required. The earliest we recommend a CT scan is 2.5 years of age to determine candidacy for the surgical correction of CAAM. In certain cases, your otologist may recommend a scan earlier in life if there are any specific concerns that need to be evaluated sooner. However, because the ear develops so rapidly in the first 2.5 years of life, we need to allow time for the ear structures to mature adequately before being able to use the CT scan to predict our chance of success with surgery. If scans are done earlier than 2.5 years of age, most commonly, it is necessary to repeat them at 2.5 years to evaluate the ear’s anatomy and give a specific score to use in the HEAR MAPS evaluation protocol.

Computer algorithms render images that allow evaluation from different angles. In the ear, we can also use computer software to remove soft tissue and look at the bone.

ct

An example of a computer-generated model of a patient with right-sided CAAM. The red arrow indicates the presence of a normally-developed ear canal on the left side. In the opposite image, it is apparent that no ear canal has developed on right side, which is characteristic of CAAM.

The image above shows a three-year-old boy with right CAAM. At the red arrow, an ear canal exists on the left side as an opening in the bone. On the right side, however, no such opening is present.

Using the same data in a different way, we can change the image to view different photographic slices of the ear and surrounding structures, much like a loaf of bread is sliced. By looking at all the slices sequentially, surgeons get a picture of the 3D anatomy of the ear. In the following example from the same patient, bone is white, air is black, and tissue is grey.

ct2

A CT scan showing a normal ear on the left (right side of the
image) with visible canal, compared to complete atresia in the right ear (left side of the image).

 

When I look at such scans, I grade them with the following scale to give a numeric score from 1–10[v]. The higher the score, the better the chance of success. As you’ll see later, the score of the scan estimates the likelihood of achieving a good hearing outcome if the ear canal were surgically corrected. Different parts of the anatomy get different points, and the total gives an overall score.

 

 

It is important for the surgeon who is performing surgery to personally review the scan. I review every scan sent to us myself and won’t perform surgery or even book a date for surgery before this has occurred.

As I read the CT, I assign points only to portions of the anatomy that are normal. On quick review above, you will see that an abnormality of the outer ear subtracts a point, so the highest most patients can score with CAAM is a 9. Later, I will share statistics on percent success with each score and how this data influences decisions about treatment planning.

In a small percentage of cases (about 4% of our patients evaluated worldwide), a tumor formed during a disordered development of the ears can be present as part of CAAM. This tumor will continue to grow and become life threatening to your child if left in place. Many physicians and plastic surgeons don’t know this terribly important fact. Each year, I am referred patients from around the world where outer ears have been reconstructed over these tumors. The tumors are called cholesteatomas. The tumor grows slowly and usually silently, eroding into the bone of the base of the skull, and threatens or injures the patient later in life. These tumors can be identified on a CT scan.

If left untreated, a cholesteatoma grows and works its way into the inner ear, the facial nerve, or even into the brain. I’ll discuss how to handle cholesteatoma in a few more pages. This is one of several reasons it is important to put together a team of professionals, so your child’s short and long-term results are where we want them to be.

Cholesteatomas can be present with no
outward sign. For this reason, all patients with CAAM must have a CT scan prior to any ear surgery or any kind – even if an ear canal will not be surgically created!

Lastly, the course of the facial nerve through the ear can be traced on quality CT scans. The surgeon performing a surgery for CAAM should study the CT scan to understand where the facial nerve runs. In rare cases, the facial nerve is in a position where it could be more easily damaged. Obviously, this is an anatomic detail that is best determined by the preoperative CT scan, instead of in the operating room during surgery

CT scan grading determines if a patient is a candidate for ear canal surgery and is the only way to detect potentially threatening conditions not visible on the outside of the malformed ear. Every child with CAAM needs one.

The patient’s CT scan is the most important factor in determining if a canal surgery has a good chance of success. With CT scores of 6 or higher, canal surgery is recommended. Scores of 4 or less rarely justify the creation of an ear canal. Scores of 5 or on the border may make sense in some situations and not in others.

Canal Candidacy

CT scan grade determines candidacy for surgery.

Interpretation and discussion of the CT scan findings with the surgeon of your choice are critical to success when considering whether to make an ear canal and eardrum to bring normal hearing to the ear.

In two situations, urgent surgery may be required. The first is for cholesteatoma, which is discussed further below. The second is for an uncontrolled middle ear infection in the atresia ear, which can spread to injure the facial nerve or to the brain, producing meningitis.

Remnant Ear Lobe (R)

The ear lobe is almost always present in CAAM. It is located abnormally—usually vertically—and displaced toward the face. Nonetheless, the earlobe is an important piece of tissue we use to make an earlobe in the normal position. Surgically, if possible, it is left attached but relocated to the correct position to match the opposite side. The amount of remnant lobe tissue is categorized in the following manner:

  • R1: Normal
  • R2: Reduced
  • R3: Absent
  • R4: Displaced

Mandible (M)

Mandible is the medical term for jaw. Twenty-three percent of the thousands of patients in our international database have an abnormality of the jaw associated with CAAM on the same side as the ear condition. The condition has been described as Hemi-Facial Microsomia (HFM).

Most patients with a jaw abnormality do not need treatment. As you see in the section on HFM below, some patients with severe jaw abnormalities do require reconstruction to lengthen the jaw. In the example below, a CT scan shows the left jaw, which is abnormal compared to the right. (This would be an M3 on the HEAR MAPS score.)

Hemifacial M Slide

A CT scan reconstruction of hemifacial microsomia and
underdevelopment of the left jaw relative to the right.

The M stands for mandible—the medical name for the jaw—and is described as follows:

 

  • M1: Normal
  • M2: Mildly reduced
  • M3: Moderately reduced
  • M4: Severely reduced or absent

Asymmetry of Facial Soft Tissue (A)

In a similar manner, the soft tissue of the face can be reduced in size on the side of the affected ear. This can be associated with a jaw abnormality (and usually is) but can also exist with normal jaw anatomy (an M1 above). To maximize the symmetry of the face and the appearance of the child, tissue augmentation can be done at the same time as an ear reconstruction. Most commonly, we remove fat from the abdomen with liposuction and transfer it to the cheek, where it fills out the deficiency and improves the symmetry of the face.

  • A1: Normal
  • A2: Mildly reduced
  • A3: Moderately reduced
  • A4: Severely reduced

Paralysis of Facial Nerve (P)

The facial nerve runs from the brain through the bone of the inner ear. It exits below and deep to the ear, where it runs through the salivary gland and out to the facial muscles. Each side has one nerve that runs to the muscles on the same side of the face.

Rarely, but importantly, the facial nerve function is abnormal as part of the malformation associated with CAAM. The facial nerve runs in an abnormal place compared to normal ears and needs to be evaluated carefully with a CT scan to determine safety of surgery[vi]. The amount of movement when a child or adult smiles and blinks and moves other face muscles allows us to grade the amount of facial nerve function present. Reduced facial nerve function can mean an abnormal formation or position of the nerve and should be correlated closely with the CT scan to determine if surgery or some other treatment is advisable. An abnormal facial nerve function reduces, but does not rule out, the chance that an ear canal can be created.

We use the facial nerve scale developed by Drs. House and Brackmann, which originally described facial nerve function after certain tumors that can involve the facial nerve. We have adapted it for our purposes here:

  • P1: Normal
  • P2: Mildly reduced
  • P3: Moderately reduced
  • P4: Severely reduced
  • P5: No movement, normal tone
  • P6: Complete paralysis, no tone

Syndromes (S)

Lastly, we document if a known syndrome associated with CAAM is present. Please see the section on Genetic Testing below for further information on different syndromes. Our HEAR MAPS score documents if there is a syndrome and, if so, which is present. Patients with certain syndromes can have important needs and are even more rare than CAAM.

  • S1: No syndrome
  • S2: Syndrome present

 

Genetic Testing

Eight percent of our CAAM patients worldwide have an identifiable genetic syndrome. This percentage will increase as our ability to test genes improves.

All patients should have an initial general evaluation by their pediatrician. If all is normal, no further evaluation is recommended. If any abnormalities or questions come up in the first pediatric evaluation, a meticulous genetic evaluation by a specialist in Genetics or Developmental Pediatrics is needed. You can find these professionals in major medical centers, available by appointment. In some cases, your general pediatrician can assist or perform this service, especially if you live in a remote area away from large medical centers or universities.

Genetic testing is important to find other disorders—if they are present—that are beyond and sometimes more threatening than CAAM.

For example, the heart and kidneys can be affected in genetic syndromes that produce CAAM, and these conditions can remain silent until a serious problem surfaces if they aren’t found early in a child’s life. Evaluation by a specialist includes the following:

  • A comprehensive physical exam
  • Family history of medical conditions for the characteristic features of certain syndromes
  • Tests such as scans and x-rays
    • In some patients, evaluation of genetic material is taken via cheek swab or blood test. Not all genes that cause CAAM can be identified … yet.

 

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