Multiple sclerosis and demyelinating disease
Most people have heard of multiple sclerosis (MS), and tend to think of it as a disease that strikes only older people. But MS is a demyelinating disease (DD). A DD is a disease that attacks and damages parts of the central nervous system, and, while rare, they do occur in children.
Early diagnosis and treatment of MS and other DDs in children can help to lessen symptoms and reduce the risk of long-term damage to the child's nervous system. The goal of Cook Children's is to provide the most advanced care to our patients, giving them the best quality of life from childhood into adulthood.
What are demyelinating disease and multiple sclerosis?
Demyelinating disease actually refers to many different disorders that result in damage to the myelin, the protective cover the surrounds nerve fibers in your brain and spinal cords. This damage can cause the nerve impulses to slow down or stop.
One of the leading causes of demyelinating disease is MS. Most people think of older adults when they hear the term multiple sclerosis (MS). While MS typically occurs in adults, children and teens are also diagnosed with this disease.
It is estimated that at least 8,000-10,000 children and teens, ages 0-18, have MS. Another 10,000-15,000 have experienced at least one symptom. In fact, studies suggest that at least five percent of all people with MS have a history of symptom onset before they reach their 18th birthday. In fact, many people who are diagnosed with MS in their adult years recall having symptoms as children.
MS can be potentially debilitating to the person who has it. MS affects the central nervous system: the brain, the optic nerve (the nerve that connects the eye to the brain), and the spinal cord. Having MS means that your immune system attacks the myelin cover on your nerve cells, causing the covering to become inflamed, eventually damaging the nerve fibers which results in scarring, or sclerosis.
The Cook Children's Multiple Sclerosis and Demyelinating Disease Clinic provides a whole-child approach for the diagnosis, treatment and chronic care of childhood-onset multiple sclerosis and other similar or related demyelinating diseases of the central nervous system, including the brain, spinal cord and optic nerves such as the following:
- Optic neuritis
- Transverse myelitis
- Acute demyelinating encephalomyelitis
- Neuromyelitis optica
Who gets these diseases?
Most cases of MS are diagnosed in adults, with the average age being 35. While MS is more rare in children and teens, the average age of diagnosis is 13-16 (around puberty), but has been diagnosed in children as young as 2 years old.
The causes of MS are not known. Studies have shown that there may be a genetic predisposition (risk factors passed down from parent to child through the genes). The risk of developing MS is higher if another family member, such as a parent, grandparent, sibling, aunt or uncle, has been diagnosed with the disease. In cases involving identical twins, approximately 30 percent of them will include both twins.
There are also some genetic studies that suggest people whose bodies don’t metabolize or synthesize vitamin D well may be at risk for developing MS.
Environmental factors that may contribute to a child developing MS include lack of exposure to sunlight, both for the child, and for the mother during pregnancy. Vitamin D levels in the mother during pregnancy may also play a role, and also mothers who smoke during pregnancy. Children who have been diagnosed with Epstein Barr virus (EBV), or mononucleosis, also appear to have a higher risk of developing MS.
Signs and symptoms
For the most part children experience similar symptoms as adults. There are, however, some symptoms that are unique to children, especially younger children before puberty. No two people have exactly the same symptoms, and each person's symptoms can change or fluctuate over time. One person might experience only one or two of the possible symptoms while another person experiences many more.
Most of these symptoms can be managed very effectively with medication, rehabilitation, and other management strategies.
Some symptoms of MS are much more common than others and might include:
- A vision problem is the first symptom of MS for many people. The sudden onset of double vision, poor contrast, eye pain, or heavy blurring is frankly terrifying-and the knowledge that vision may be compromised can make people with MS anxious about the future. Learn more about vision problems.
- Numbness of the face, body, or extremities (arms and legs) is one of the most common symptoms of MS, and is often the first symptom experienced by those eventually diagnosed as having MS.
- Problems with gait (difficulty in walking) balance and coordination are among the most common mobility limitations in MS. Gait problems are related to several factors.
- Bladder and bowel dysfunction, which occurs in demyelinating disease patients with involvement of the spinal cord, usually can be managed quite successfully
- Constipation is a particular concern among people living with MS, as is loss of control of the bowels. Diarrhea and other problems of the stomach and bowels also can occur.
- Dizziness and vertigo are common symptoms of MS. People with MS may feel dizzy, off balance or lightheaded. Much less often, they have the sensation that they or their surroundings are spinning, a condition known as vertigo.
- Pain is common in chronic MS. In one study, 55% of people with MS had "clinically significant pain" at some time. Almost half were troubled by chronic pain.
- Cognitive dysfunction can be another problem, and may be the most prominent symptoms for many pediatric patients during adolescence. Cognition refers to a range of high-level brain functions, including the ability to learn and remember information: organize, plan, and problem-solve; focus, maintain, and shift attention as necessary; understand and use language; accurately perceive the environment, and perform calculations. Cognitive changes are common in people with MS—approximately 50% of people with MS will develop problems with cognition.
- Emotional changes are very common in MS, especially in children—as a reaction to the stresses of living with a chronic, unpredictable illness and because of neurologic and immune changes caused by the disease. Your child may also have bouts of severe depression (which is different from the healthy grieving that needs to occur in the face of losses and changes caused by MS), mood swings and irritability. In older patients, episodes of uncontrollable laughing and crying (called pseudobulbar affect) pose significant challenges for people with MS and their family members.
- Depression is common during the course of multiple sclerosis. In fact, studies have suggested that clinical depression is more frequent among people with MS than it is in the general population or in persons with other chronic, disabling conditions.
- Spasticity is one of the more common symptoms of chronic MS. Spasticity refers to feelings of stiffness and a wide range of involuntary muscle spasms (sustained muscle contractions or sudden movements). Spasticity may be as mild as the feeling of tightness of muscles or may be so severe as to produce painful, uncontrollable spasms of extremities, usually of the legs. Spasticity may also produce feelings of pain or tightness in and around joints, and can cause low back pain. Although spasticity can occur in any limb, it is much more common in the legs.
- Fatigue is one of the most common symptoms of MS, occurring in about 80% of people. Fatigue can significantly interfere with a person's ability to function at home and at work, and may be the most prominent symptom in a person who otherwise has minimal activity limitations.
There are less common symptoms that occur in MS, but much less frequently, like:
- Speech disorders and voice problems occur in approximately 25-40 percent of people with MS, particularly during relapses or periods of extreme fatigue. The problems are of two types—dysarthria refers to changes in the production of speech, including slurring, unclear articulation of words, and difficulty controlling loudness; dysphonia is the term used for changes in voice quality, including hoarseness, breathiness, nasality, poor control of pitch.
- Swallowing problems—referred to as dysphagia—result from damage to the nerves controlling the many small muscles in the mouth and throat. When dysphagia occurs, food and liquids can pass into the airway and lungs, causing the person to cough and choke. Because particles that remain in the lungs can cause aspiration pneumonia—a serious complication of MS—prompt evaluation and treatment by a speech/language pathologist are essential. This is atypical for patients in childhood.
- Although headache is not a common symptom of MS, some reports suggest that people with MS have an increased incidence of certain types of headache.
- Hearing loss is an uncommon symptom of MS. About 6% of people who have MS complain of impaired hearing. In very rare cases, hearing loss has been reported as the first symptom of the disease. Deafness due to MS is exceedingly rare, and most acute episodes of hearing deficit caused by MS tend to improve.
- Seizures, which are the result of abnormal electrical discharges in an injured or scarred area of the brain, are fairly uncommon among people with MS, but may be seen with greater frequency in very young patient prior to puberty. Their incidence has been estimated at 2% to 5%, compared to the estimated 3% incidence of seizures in the general population.
- Many people with MS experience some degree of tremor, or uncontrollable shaking. It can occur in various parts of the body.
- Itching (pruritis) may occur as a symptom of MS. It's one of the symptoms in a family of abnormal sensations—such as "pins and needles" and burning, stabbing or tearing pains—which may be experienced by people with MS. These sensations are known as dysesthesias, and they are neurologic in origin.
Testing and diagnosis
Because MS can result in long-term and sometimes irreversible damage, making the diagnosis of MS as quickly and accurately as possible is important for many reasons. Since there is now evidence that permanent neurologic damage can occur even in the earliest stages of MS, it is important to confirm the diagnosis so that the appropriate treatment(s) can be initiated as early in the disease process as possible.
The challenge is that currently there are no specific symptoms, physical findings or laboratory tests that can, by themselves, determine if a child or teen has MS. For that reason, the clinic team at Cook Children's uses several strategies to determine the diagnosis of MS, and to rule out other possible causes of the symptoms your child is experiencing.
Although MS is the most common, other conditions can damage myelin in the CNS, including viral infections, side effects from high exposure to certain toxic materials, severe vitamin B12 deficiency, autoimmune conditions that lead to inflammation of blood vessels (the "collagen-vascular diseases"), and some rare hereditary disorders.
Some demyelinating conditions are considered a one-time illness. Other DDs may be progressive, like MS. Careful examinations may be needed, and may have to be repeated, in order to establish an exact diagnosis among the possible causes of neurologic symptoms.
Your child's testing will include a careful medical history, a neurologic exam and various tests when necessary, including magnetic resonance imaging (MRI), evoked potentials (EP) and spinal fluid analysis.
Medical history and neurologic exam
The physician takes a careful history to identify any past or present symptoms that might be caused by MS and to gather information that might provide further clues. The physician and members of the care team also perform a variety of tests to evaluate mental, emotional and language functions, movement and coordination, balance, vision and the other four senses.
In many instances, the person's medical history and neurologic exam provide enough evidence to meet the diagnostic criteria. Other tests are used to confirm the diagnosis or provide additional evidence if necessary.
MRI is the best imaging technology for detecting the presence of MS plaques or scarring (also called lesions) in different parts of the CNS. It can also differentiate old lesions from those that are new or active. Your child will be referred to Cook Children's Dodson Radiology Center for iMRI. Our new 3 Tesla iMRI system allows the neurological team to see more detail in your child's brain and CNS.
Neurophysiologic testing or evoked potential (EP) tests are recordings of the nervous system's electrical response to the stimulation of specific sensory pathways (e.g., visual, auditory, general sensory). Because damage to myelin (demyelination) results in a slowing of response time, EPs can sometimes provide evidence of scarring along nerve pathways that does not show up during the neurologic exam. The most commonly used EPs are visual evoked potentials (VEP), brain stem auditory evoked responses (BAER) and somatosensory evoked responses (SSER). Because 75% of MS patients exhibit VEPs, they are considered the most useful for confirming the MS diagnosis.
Cerebrospinal fluid analysis
Analysis of the cerebrospinal fluid, which is sampled by a spinal tap, detects the levels of certain immune system proteins and the presence of oligoclonal bands. These bands, which indicate an immune response within the CNS, are found in the spinal fluid of about 90-95% of people with MS. But because they are present in other diseases as well, oligoclonal bands cannot be relied on as positive proof of MS.
While there is no definitive blood test for MS, blood tests can help rule out other conditions that cause symptoms similar to those of MS, including Lyme disease, a group of diseases known as collagen-vascular diseases, certain rare hereditary disorders, and other infectious or inflammatory causes.
Treating multiple sclerosis and demyelinating diseases
In children, MS may develop more slowly, but there is growing evidence that the risk of disability increases more than in adults due to the earlier onset of the disease. Children may also face more psychological and social challenges that may impact them at school, at home, and with friends. Our goal is to treat the whole child through:
- Making an accurate and early diagnosis. The sooner treatment can begin, the more likely that symptoms can be controlled.
- Initiating therapy early and safely
- Monitoring treatment, managing side effects, following on patient compliance to assure that medications are being taken as prescribed
- Working with our neuropsychology team and child life team to help your child deal with the mental and emotional issues of their illness and learn to recognize their symptoms and develop coping skills to manage them
- Providing physical and occupational therapy when needed, as well as interventional therapies for spasticity, visual motor skills, and other primary and secondary symptoms that may affect your child's ability to function at the highest levels possible.
- Treating the whole patient to ensure the best quality of life possible
We are here to help.
If your child has been diagnosed, you probably have lots of questions. Call our offices at: 682-885-2500 to schedule an appointment, refer a patient or speak to our staff.