Are there treatments for Aicardi-Goutières syndrome ?
- Written by D. Miller
There is no cure for Aicardi-Goutieres syndrome. However, its symptoms can be managed so the child is more comfortable and regression can be slowed down. Recognizing problems and treating them before they become severe should be a priority in treating patients with Aicardi-Goutieres syndrome.
The following things can be done to manage this disease and keep the child healthy:
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1. One family has found that the protein medication called L-carnitine has a positive effect on their children, even to the point of reversing the regression of the disease somewhat. L-carnitine is a protein used by all cells to move fats throughout the cell and to enhance metabolic processes. It is not a cure. This family has found that their children are happier, less rigid, smile more, and are sick less often while they are on the carnitine. In the United States, the Sigma Tau Company sells carnitine as the brand name "Carnitor". The dosage given is 60 milligrams per kilogram of body weight per day. Carnitine can cause digestive upset and it can cause fishy body odor. These side effects go away after several months. Simethicone can ease the digestive upset caused by excess gassiness. In very rare circumstances, high doses have caused or increased the number of seizures.
2. Pain medications should be given whenever a child is in pain. Pain should be aggressively treated because stress can cause regression in Aicardi-Goutieres syndrome. Some children have been on pain medications every day for the first several years of their lives. Treating pain can keep the child more comfortable and they can become more aware of their environment instead of dwelling on pain. Most children with Aicardi-Goutieres syndrome cry constantly the first several years of life; pain medications can sometimes help reduce the amount of crying. It is possible to keep a child pain free by alternating two different pain medications, such as acetaminophen and ibuprofen, giving each medication every 6 hours. For example, give acetaminophen at 3:00 and 9:00, and give ibuprofen at 12:00 and 6:00. This way, one pain medication is given before the previous pain medication wears off.
3. Antihistamines can be give to control the erythematous (red) skin reactions. If your child’s feet, hands, cheeks, or ears turn red often or are red all of the time, this may be an allergic histamine reaction. Anti-histamines such as Benadryl can reduce these reactions considerably.
1.Only about one in four children with Aicardi-Goutieres syndrome has seizures. Most seizures seen are petit mal or focal seizures. They can be controlled with anti-seizure medicine.
2.When carnitine was given to two patients, the patient with less severe symptoms of Aicardi-Goutieres syndrome showed reversal of brain atrophy as seen in successive CT scans. His brother, who was more severely affected, showed clinical improvement with carnitine, but there were few changes in his CT scan after the carnitine was administered. Both patients did show increased head size after they started the carnitine.
3. To verify the diagnosis of Aicardi-Goutieres syndrome, a test for elevated alpha-interferon and elevated white blood cell levels should be done on the cerebrospinal fluid. Any local hospital can do the white blood cell count. Professor Pierre Lebon in Paris, France, can do the alpha-interferon levels. Research has shown that both the white blood cell count and the alpha-interferon usually decrease with age.
4. CT scans should be taken when there is a change in neurological status. Some families choose to do scans every 2 years or so. MRI scans can be done, but they involve sedating the child, and sedation can cause regression. Doing any testing that may involve anesthesia or sedation should be balanced against the possibility it may cause regression.
1.Children with Aicardi-Goutieres syndrome have cortical blindness. This means that the eyes can see, but the brain cannot interpret the signals that the eyes send to the brain. The child may stare or his eyes may wander or jerk back and forth constantly. One eye might focus and the other eye wander. The answer to this problem is to GET GLASSES FOR YOUR CHILD! The doctor will tell you that there is no reason to get glasses because your child is cortically blind. Tell the doctor that your child’s brain will never develop vision if it does not get a clearly focused signal from the eyes. The glasses will correct the focus for near sightedness, farsightedness, or astigmatism. If the brain receives a corrected signal from the eyes, it will have the best opportunity to develop cortical vision.
An easy way to keep glasses on a child in a wheelchair is to cut off the bow just in front of the ear, and curve the bow piece forward, so it looks like a cane or a J-shape. Then hook a headband to each "J" and stretch the band around the back of the head.
2.One way to examine the visual perception of a child is to test them with something called Teller or Tellar cards. Any pediatric opthamologist at a university hospital should have these cards.
3.In the family who gives carnitine to their children, the vision of both children improved noticeably within a month after the carnitine was started.
4.If one eye has vision and the other eye does not see (amblyopia), the good eye can be patched for several hours each day so that the bad eye will be forced to see.
Do not let your child become stressed for any reason. Excessive stress can cause a sudden regression episode, and the developmental losses may be permanent.
1.Do not let your child get too hot. Homes and vehicles should be air-conditioned. Fevers should be treated immediately. A very good orthopedic treatment to help a child relax is hydrotherapy in a hot tub. If you do use a hot tub, set the temperature to 100 degrees F. (39 degrees C.) and limit the time to 15 minutes or less so the child does not get overheated.
2.Do not let the child get too cold. Keep them warmly dressed.
3. Do not let your child become dehydrated. Some children with Aicardi-Goutieres syndrome can drink liquids using a bottle or a syringe. It is very difficult to get sufficient fluids in using this method. The parent needs to monitor the amount of fluids that the child drinks so that the child has enough water. If the child should vomit often, then it is even more important that the child’s fluid levels be monitored. If a child becomes dehydrated, he should be hospitalized immediately so that he does not regress.
4. Surgery can also cause regression due to the stress of anesthesia. Since children with Aicardi-Goutieres will most likely need many surgeries, the need for the surgery must be balanced against the possibility of regression because of surgery. If possible, combine needed surgeries. Do simple surgeries under local anesthetic. Avoid sedation, because this can also have negative effects. If a child has to have surgery, then use only reversible IV anesthesia. Do not use gas anesthesia.
Children with Aicardi-Goutieres syndrome often have pneumonia and other respiratory problems caused by inability to clear the lungs and because of inactivity. Parents must do everything that they can to keep the lungs clear to prevent pneumonia. Regression can happen during sickness due to stress.
1.Prevention of reflux of stomach acids is necessary because this is a primary cause of aspiratory pneumonia. Surgery to prevent reflux by doing a Nissan stomach wrap/fundoplication is an option to be considered.
2. Postural drainage allows secretions to drain from the lungs and throat. Postural drainage involves placing the child face down with his head lower than the rest of the body, such as on a wedge or on pillows. Along with percussion, this allows the lungs to be cleared of secretions.
3. Percussion involves drumming on the back and chest with cupped hands in order to loosen secretions. A respiratory therapist can teach a parent how to do percussion. Along with postural drainage, this can help clear the lungs.
Since Aicardi-Goutieres syndrome has immune symptoms, some of the children show allergies to many things. Some allergies seen in these children include reactions to pollens, cold, carpeting, vinyl, latex, and red food coloring. Watch for reactions such as hives, swelling, or red skin reactions. Treat the allergies by using anti-histamines and by avoiding whatever causes the reactions.
Most children with Aicardi-Goutieres syndrome are severely impaired and move very little voluntarily. Because a child does not walk or move, muscles get very tight and cause bones to deform and dislocate. Prevention is the key to keeping a child comfortable and stopping deformities before they become permanent. Since most children with Aicardi-Goutieres syndrome are rigid rather than spastic, they have fewer problems with permanent deformities. If intervention is done early enough, it is easier to correct contractures with braces and surgery in these children than in a child with spastic cerebral palsy.
1. Any child with Aicardi-Goutieres syndrome should get regular physical therapy. A good therapist can show a parent how to stretch, position, and do range-of-motion on their child. Stretching and range-of-motion should be done several times a day.
2.If a child does not walk by age 2, his hips will not form properly and they will likely dislocate before age 4. Dislocation happens when the adductor muscles (muscles on the inside of the thighs that help pull the legs together) get tight and they pull the hip out of the socket. Hip dislocation can be very painful and correction involves multiple surgeries, bracing, and body casts. All of this can be prevented by doing a simple surgery, between the ages of 12 and 18 months, involving cutting the tendons of the adductor muscles. Then, a hip brace should be worn by the child every night to prevent the adductors from tightening again. The best hip brace to prevent dislocation is called a Scottish Rite brace.
3. Scoliosis is curvature of the spine caused by poor posture and tight muscles pulling the spine out of alignment. Scoliosis is preventable through proper positioning and stretching. A body brace also may be needed to prevent scoliosis.
4. If a child does not walk, his leg bones can become brittle and be easily broken. It is important for a child with Aicardi-Goutieres syndrome to bear weight on his legs every day. He should be put into a piece of equipment called a stander for at least 30 minutes a day. This will strengthen his bones, help his hips form properly, and help the body function better because it is upright.
5. Even when a child is stretched and positioned properly every day, he will probably get tight muscles because of lack of movement. Surgeries to release and lengthen tight muscles should be done early so bones do not get deformed. The child will be much happier and it will be easier to manage daily activities if orthopedic problems are aggressively treated rather than waiting until deformities occur. If deformities are not prevented, then much more painful invasive surgeries will be needed. Botox is a drug that is an alternative to surgery of muscles, but this should NOT be used in children with Aicardi-Goutieres syndrome. One child with Aicardi-Goutieres syndrome had severe neurological and immune reactions to the Botox.
6. Reflexes control most of the movement in children with Aicardi-Goutieres syndrome. One common reflex happens when the head is turned to one side. The arm and leg on the side opposite the face will bend and the arm and leg on the same side of the face will extend. This reflex can be used while dressing the child; to bend the right arm to get it into a sleeve, turn the head to the left. To bend the left arm, turn the head to the right. Be aware that if the child stays in the reflexive position for long periods of time, this can lead to permanent deformities. If the child gets stuck in this reflex, try to break the pattern by moving the child every time you see him in the reflexive position.
Positioning and Lifting:
Proper positioning is very important to prevent deformities in children who cannot walk. Proper lifting will prevent injury both to the child and to the parent.
1.A wheelchair or large stroller is needed to transport children when they get too large to carry. A seat that is molded to the body of the child is best for preventing deformities. A chair that can tilt to different angles is needed on an older child because he will be spending more time in his chair than a younger child. If the child has poor head control, head support is needed. A Whitmeyer headrest has a strap across the forehead to hold the head up. A Hensinger collar fits around the neck to hold the neck up. Other brands of devices also may help with head support. Do not let the child’s head hang down because this weakens their neck muscles, causes breathing difficulties, and is uncomfortable.
2. While out of the wheelchair, the child can lie on his side with pillows supporting his head, back, and between his knees. Do not put the child in a bean bag chair; it does not give enough support and will cause deformities.
3. Lift you child with your back straight up and down. Get instruction from a physical therapist on proper lifting techniques. It is easier to lift your child if he is waist high, so elevate his bed and changing table. A bathtub can be installed on a platform so it is waist high, making bathing much easier. Once a child reaches 25 kilograms, consider getting a mechanical lift to lift him.
4. A good way to lift your child is to put one arm under his shoulder blades and put the other arm between his legs and under the knee farthest from your body. Then lift and curl your arms so that your child is held to your chest. This gets his center of gravity closer to your body and he will be easier to lift than if your arm is under both legs.
1. If the child drools or does not eat, his lips can get chapped. Use lip care products or use a solid vegetable shortening such as Crisco on his lips.
2. If the child bites his lip and causes sores, a dentist can grind his front teeth so they are not sharp. A band-aid can also be placed vertically on his chin to pull the lower lip down. The skin in this area is delicate, so use an adhesive remover product when you remove the band-aid.
3. Chilblains should be treated as a wound and should have a dressing on them. Do not have your child wear tight shoes. Try to keep the feet warm.
4. A child might form granulation tissue at a g-tube site or with chilblains. Granulation tissue is thick scar tissue that keeps growing. The best dressing to heal granulation tissue is a foam dressing. Contact a wound care specialist to find foam dressings.
5. If a child fists his hands most of the time, bacteria can grow in the palms of his hands. Take care to open each hand and wash and dry it thoroughly. If the hand will not open easily, try bending the wrist downward and a reflex will open the hand.
Feeding problems is one of the first symptoms noticed soon after a child is born with Aicardi-Goutieres syndrome. Reflux, constipation, vomiting and gagging are also problems. Some children also have elevated liver enzymes, the cause of which is unknown. All of these problems can be difficult to manage.
1. A choice that every family will have to face is whether or not to use a feeding tube to feed your child. Some children can eat pureed baby foods, but liquids usually are difficult to swallow. Sometime feeding orally can take more than 6 hours a day. Feeding liquids by syringe or spoon can take a very long time. A feeding tube makes it much easier to feed a child and make sure that they get enough calories and liquids. It is also easier to give medications through a tube rather than orally.
2. There are two kinds of feeding tubes. An N-G tube, or nasal-gastric tube, is put through the nose and down the back of the throat and into the stomach. Advantages are: 1. It is temporary, 2. It can be used when the child is sick if he eats well otherwise, 3. No surgery is needed. Disadvantages are: 1. Long-term use can cause throat irritation, 2. The opening to the stomach is never closed all the way and reflux can occur, 3. If it is placed wrong, food can go into the lungs and be fatal. 4. The child will pull it out often, 5. It must be changed every week. The other kind of feeding tube is called a g-tube, or gastric tube. This feeding tube is surgically placed in the stomach just below the rib cage. Advantages are: 1. It is a permanent solution to long-term feeding needs, 2. It is safer than an n-g tube because it cannot be placed wrong and get food in the lungs, 3. A child can be fed at night using a feeding pump, 4. It is easier to use than an n-g tube, 5. It needs changing every 3 to 18 months. Disadvantages are: 1. It requires surgery to place it. 2. Some children grow granulation tissue at the g-tube site, 3. Feeding supplies can be expensive.
3. It is difficult to know how many calories a child with Aicardi-Goutieres syndrome needs. At least once a year, a dietitian should be consulted and they can determine if fluid, vitamins, proteins, and calorie needs are being met.
4. This is how to calculate fluid needs in a child:
First 10 kilograms=give 100milliliters per kilogram per day
+ Second 10 kilograms=give 50 milliliters per kilogram per day
+ Beyond 20 kilograms =give 30 milliliters per kilogram per day
+ Second 10 kilograms=give 50 milliliters per kilogram per day
+ Beyond 20 kilograms =give 30 milliliters per kilogram per day
Equals the total amount of water needed per day
Example: A child weighs 22 kilograms. He needs (10 x 100) + (10 x 50) + (2 x 30) = 1000+500+60= 1560 milliliters of water every day.
5. As children get older or if they do not get enough fluids, they will become constipated. Severe constipation can cause a bowel blockage or can lead to the bowel folding in upon itself, both of which may need surgery to correct. It is important to have a good bowel program so that the child has a bowel movement EVERY day. Drugs such as laxatives and fiber can be used to encourage bowel movements. Prune juice can be fed to the child (start with only 30 to 50 milliliters). A mixture called BAP, which is equal parts Bran cereal, Applesauce, and Prune juice is a very good food that promotes bowel movements. Standing a child up in a stander every day promotes bowel movements due to gravity. If a child does not have a bowel movement on his own by evening, a glycerin suppository should be given to induce a bowel movement.
6. Most children with Aicardi-Goutieres syndrome have reflux and vomiting of stomach acid. Drugs such as antacids, Zantac, or Tagamet can be tried to control the reflux. It is important to control the reflux and vomiting because the child can get pneumonia as well as have malnutrition and rotted teeth due to the vomiting. Long-term reflux can lead to cancer of the esophagus or rupture of the esophagus, which is usually fatal. A surgery called a Nissan stomach wrap/fundoplication can tighten the stomach opening. Advantages to this surgery are 1. Prevention of pneumonia, 2. Prevention of reflux, 3. No more loss of food or medications due to vomiting, 4. Prevention of cancer or rupture of the esophagus. Disadvantages are: 1. Surgery is needed, 2. The child will no longer be able to burp and stomach gas must be released through the g-tube, 3. If the child is sick and is nauseated, it is very difficult to throw up to relieve the nausea.
7. If the child has problems of intestinal gas, a medication called Simethicone is very effective at relieving the gassiness. It can be found at the drugstore near the antacids.
8. Children with Aicardi-Goutieres syndrome can develop gagging problems due to hypersensitivity of the mouth. This can be desensitized through a program of touching the cheeks, lips, teeth, and gums, as much as the child will allow. Do this four or five times per day and the child will be desensitized. It may take months for this to work.
9. Liver enzyme tests should be done several times a year, especially between ages 1 and 2. Some children with Aicardi-Goutieres syndrome have elevated liver enzymes. Nobody knows why.
The following are descriptions of alternative medicine that several families have tried. This listing is not an endorsement of the validity of these alternatives. Research these methods thoroughly before you try them and consult your doctor.
1. Massage can be very helpful to relax tight muscles. It also gives sensory input to the brain. A good massage therapist can teach how to massage your child.
2. Manipulation such as chiropractic or cranial sacral therapy is meant to adjust the head, neck, and back so that spinal fluid can flow more freely and the body can function at its best.
3. Energy field therapies such as Reikee, acupuncture, and therapeutic touch adjust the energy fields in the body and enable the body to function at its best.
4. Hyperbaric oxygen chambers involve giving the child pure oxygen while in a chamber that is under high pressure. The theory is that the oxygen can "wake up" brain cells that are not functioning well. One family tried this and did not find it helpful. One side effect of hyperbaric oxygen is elevation of an immune protein called interleukin. Interleukins are similar to interferons, but it is not known if hyperbaric oxygen would have any effect on alpha-interferon.
5. Herbal medicine such as vitamins, minerals, food supplements, aloe, blue-green algae, enzymes, herbs, and other natural substances could be tried on children with Aicardi-Goutieres syndrome. Be aware that because something is "natural" or "herbal" doesn’t mean that it is harmless. A parent should do research on any herb and they should be aware that it is unknown how any one substance might interact with an Aicardi-Goutieres syndrome child’s metabolism. For example, one family tried an alternative medicine called enzymes and their child had seizures while on it. Be very careful when choosing alternative medications.
6. A deep-breathing technique has been used by one family to prevent pneumonia in their children. The technique, if done wrong, could be harmful. If done correctly, the technique could be helpful. The parent has to be very careful while doing this deep-breathing technique. To learn more about this technique, contact the Miller family.