FAQ

Do other children with ATR-x syndrome have allergies (because my child’s reflux symptoms became worse)?

There were reactions, that show, that the children have the following allergies to: peanuts, eggs, gluten, soy and dairy produce. The responses also showed that there may be a different cause to the reflux, such as the size of the meals, good posture and certain textures of food.

One parent said their child is allergic to peaches. Studies have shown that by eliminating dairy products, gluten or grain, milestones are easily accessible to children with developmental disabilities. Many parents indicate that they don’t serve gluten or dairy products.

If there is one child with ATR-x within the family, will the other children in this family also be affected with ATR-x?

Whether there is ATR-X syndrome within a family is depending on the cause of the syndrome. When the mother is a carrier (she has one abnormal X chromosome to one side and one healthy X chromosome on the other side), boys have 50% chance of having the syndrome and daughters  have 50% chance of being carriers. Girls will not be affected by the syndrome because they carry a healthy X chromosome. Some boys with ATR-x Syndrome may be born resembling the genital terms of a girl, but they do have an X and Y chromosome – or the male sex chromosomes.

When a boy had a spontaneous change (mutation) in the genetic (hereditary) material during pregnancy, the mother is not a carrier and there will only be a slightly increased chance that another child with the ATR-x syndrome will be born in this family.

There also is a recurrence risk present in families, where the mother has germ cell mosaicism . This means that there is an abnormal X chromosome in a number of ova, but not in all of them.

Have other mothers been tested to see if they are carriers of this syndrome?

Almost all mothers are tested and the vast majority are carriers. Many parents indicated that their specific mutation was not found before. Four mothers indicated that they are not carriers.

Our daughter of 15 wants to get tested on whether she is a carrier of the ATR-x gene. How do you deal with this?

In some countries, girls must be 18 years old to be tested. Parents indicate that this is too old and that the girls should be able to be tested at the age of 15. Some parents reported that their daughter does not want to do this. Several parents whose daughters wanted to have tests have indicated that the girls were happy that they had done this; there was clarity and this put their minds at rest. It was further stated that doctors now know much more about any possibilities on assisting carriers through a pregnancy.

If there are more children with ATR-X within one family, do they look alike and do they both have a different level of development?

Parents reported that their children develop at different rates; one speaks, the other does not, one has more sensory needs than the other, one has no sense of danger or personal space while the other does recognise danger and the purpose of certain objects.

Are there any Children who suffer from Scoliosis or Kyphosis? Do they have therapy or is an operation needed to help this deformity?

Many children at a greater or lesser extent, suffer from scoliosis (lateral curvature of the spine) and/or kyphosis (abnormal curvature of the spine). Some boys use a special orthosis and others use a special back strap.

Are there children with deformities of the spine, hips, knees or ankles?

A number of children have deformities of the hip (Coxa Vera and/or Coxa Valga), there are children with Scoliosis and/or Kyphosis, and there are children with a clubfoot or are tending towards a clubfoot.

How many children have clubfeet and what was done about it? Was a first correction enough or did other measures had to be taken?

There are many children with clubbed feet, pointed feet or the inclination to do so. Most wear orthoses, special braces or appropriate footwear and for most of them that is enough to keep their feet straight. One parent said that their child has had botox injections and two parents reported that their children needed surgery and that they now use orthopedic footwear.

Do other children with ATR-x also hit their legs when they are excited?

Parents who have responded indicated that the children beat their legs or other parts of their body, such as abdomen or chest.

Are there any children who beat themselves when they are hurt?

Many parents indicate that this happens when they are hurt. They beat themselves on the legs, the abdomen or chest, and some beat their heads against the floor or wall. Parents say the pain is often due to problems with ears, teeth, intestines or stomach. Hurting themselves also occurs as a manifestation of other issues, such as overstimulation.

Do other children with ATR-x think it’s funny when other children cry?

Parents’ reactions show that their children react the same.

My child has red spots around the eyes after having a crying attack. Is this normal?

Other parents reported that their children have it too. It comes from crying.

Do other children become violent when they go to school with the schoolbus?

Parents who responded had experienced the same. One parent advised music therapy for children. It had a positive effect on her child.

Do other children with ATR-x also put their hand in their mouth or chew on their hand?

Parents reported that their children do the same. Some children also chew on shoes. One parent advised to put a sweat band around the wrist when they bite it.

Do other children with ATR-x pull out their hair?

The responses showed that other children don’t pull their own hair but they will pull the hair of others.

Do other children have restless nights?

Many parents say that their child is crying sometimes, is jumping or playing at night, has very restless legs or is ‘banging’ against the bed. The next day the children are usually very restless and have problems with biting, scratching, hitting and pinching. No one knows the cause.

Has anyone had success with medication against negative behavior such as hitting, pinching, biting and hair pulling?

Parents indicate that they have already tried everything such as Baclofen (muscle relaxant), Risperdal (atypical antipsychotic drugs), Olanzapine (atypical antipsychotic drugs), Clonidine (ADHD and tics), Abilify (atypical antipsychotics), and even Valium but nothing helps. Other parents say they try essential oils (lavender, wild orange and vetiver), they rub this on the bottom of the feet and sometimes around the heart or stomach. It really seems to work well for ADD, ODD and other behavioral problems. Other parents use Gabapentin (medication for epilepsy and nerve pain) and they have had good experiences with this. (Do not use medication without a prescription-always consult a doctor first!)

My child is crying for 4 days nonstop. What can I do?

Parents recognise this and say they feel powerless. Some parents allow their child to stay a few nights per month somewhere else in a guesthouse so that parents can have a break with the other children in the family. Other parents take turns minding their child so that the other parent can relax.

Who knows what blood tests they conduct when a child is suffering from fatigue and a low blood iron content?

Someone suggested to examine the deficiency of vitamin B12.

Are there more children who suffer from a high sodium content?

One of the parents reported that her child always suffers from excessive sodium levels but always comes back to normal values.

Do other children suffer from low blood sugar levels?

Some parents reported that after the birth of their child, these values ​​were not good. Also some parents indicated that after surgery the sugar levels suddenly went dangerously low. One parent indicates that their child needs to eat every 3 hours to maintain good levels​​.

Do children with ATR-x develop the form of alpha thalassaemia? Our child is 4 years old and shows no signs.

Other parents responded that there are several children that show no signs. It is recommended that the iron content should be checked in the blood.

What are the anatomical features of ATR-x at 20 weeks gestation?

Parents indicated that the following anatomical features were seen from the scans of their unborn child: slowed growth of the head, increased fluid in the brain and the eyes were farther apart than normal.

Is there a link between premature birth and ATR-x?

Some parents reported that their child with ATR-x was born prematurely. This ranged from 34 to 37 weeks. Whether there was a connection with ATR-x is unknown.

Are there other children with ATR-x, who have retarded physical growth? We wonder whether there are other standards for children with ATR-x?

Several parents indicated that their child is under the growth curve for children without developmental disabilities. They also indicate that impaired growth is a component of the ATR-x syndrome.

Do other children suffer from intra-uterine growth retardation or meconium plug?

There were different reactions. The responses showed that several children suffer from the slowdown. There were no comments on the question of a meconium plug.

How is the posture of a child with ATR-x? Our child is 2.4 years, cannot sit by himself and does not catch himself when he falls over.

There were several reactions from parents with children of different ages, between 1.5 and 6.5 years. These children also could not sit by themselves or catch themselves if they fell down. Some children have had physiotherapy for this and have made progress.

Do children with ATR-x slowly decline in their health?

There were no responses.

Are there other children with ATR-x Syndrome suffering from hearing impairment?

The responses showed that some children were affected at birth. After placing tubes in their ears the hearing loss was solved. One of the children is missing his right cochlea and therefore gets an implant. Several children have a mild to moderate hearing loss. One child has moderate to severe hearing loss in one ear. Another child has no auditory canal in the right ear, the parents are looking for more information into a hearing aid implant. Some children have a hearing aid but find it difficult keeping the hearing aid in their ear.

Are there children with auditory processing disorder?

Central Auditory Processing Disorder (CAPD or APD nowadays) is a receptive language disorder in which a person hears sound but is unable to properly process information into words and language. People with this disorder cannot recognise the difference in sounds, even when the sounds are quite strong. Some parents recognise this. Others say that the children just need some time to process the information before responding.

My child suffers from ear infections a lot. Do other parents recognise this?

Many children suffer from ear infections when they are young, some may be quite ill. There are children who use Fluiticason (an anti-allergy medicine). One of the children has had no problems with ear infections since. As the children grow, the infections become less.

Do other children suffer from epilepsy?

The literature indicates that about one third of boys with ATR-X suffers from epilepsy. Parents say that many children demonstrate several characteristics that may indicate epilepsy, but this does not often emerge on an EEG (film of the brain). Medically, a clean EEG does not mean that there is no epilepsy.

The children show different types of attacks. Absences are mentioned, among other things. Parents report that some children need extra oxygen during a seizure.

A partnership is set up with the epilepsy center Kempenhaeghe in Holland to do research on sleep problems and epilepsy in the boys with the ATR-x syndrome. Once results are known, they will be shared on this website.

Are there other children with severe Myopia, Degenerative Myopia, or retinal detachment? Our child is visually impaired and we think that it’s one of these disorders. Currently, they are conducting tests in the hospital to determine this.

One of the parents states that their child has Optic Athrophy. Someone else indicates that her child suffers from Myopia in one eye and has Hyperopia in the other, the child wears glasses.

Is there anyone who has experience with the operation of a lazy eye/visual impairment and was it effective?

One parent reported that her child had surgery and that it helped tremendously.

Are there more children with CVI (Cerebral Visual Impairment)?

(CVI is defined as a disorder in the sight, which is located in the brains and which makes a person unable to properly process information into objects. One is not aware of what one sees). Several parents indicated that their child has been diagnosed with CVI.

Are there any children tested for Stickler Syndrome ?

This is an inherited predisposition to the disorder of connective tissue causing myopia. There were no comments from other parents .

Do any children encounter problems with genital abnormalities, including undescended testicles?

There were different reactions. One parent said that one of the testicles had atrophied, and it had to be removed because it might otherwise be malignant. Another parent said that there was moisture in one of the child’s testicles and that an operation was needed. Another parent said that both testicles were hidden in their child’s belly.

Are there other children with Hydronephrosis and is this a characteristic of ATR-x?

Hydronephrosis is a bag-shaped expansion of the renal pelvis, as a result of reduced urine flow from the kidneys to the bladder. There were two parents who reported that their child with ATR-x had Hydronephrosis but the children showed no severe symptoms and it seemed not to bother them. The literature shows that Hydronephrosis can occur in children with ATR-X syndrome.   

Do other parents see a ‘double butt crack’ on their child?

Parents’ reactions show that almost all their children have this.

My child has found his penis and likes to rub it the whole day ( with or without clothes). What do other parents do about this?

Parents indicate that an expert advised to give their children this time (e.g. In the morning or evening before the diaper handles) in his own room or bed with at least as much privacy as possible. One should try to minimize publicly rubbing. It is not good to forbid it altogether, it’s better to guide the child in this. One parent holds the hands of their child and says ‘no’ and then explains that it is allowed in the bedroom. It took a while but eventually the child knew what the intention was and he went to his room by himself. Some children make their hand and penis completely raw. Parents stop it by clothing the child in a jumpsuit/bodysuit (“onesie”) covered with a pair of trousers.

Are there other children who already have gray hair?

Most of the parents who responded to this question indicated that their child has some gray hair.

How about growth of pubic hair; my child is 2.5 years and has this already. Do other parents recognise this?

Most of the children have this between 2 and 12 years.

How can we stop our child sucking his thumb?

One parent reported that they use a bitter gel on the fingers that their child sucks. The other parents indicate that they have not stopped it. Alternatively, the hand can be covered with a sock and taped around the wrist.

Do other children hold their hands together and do you find saliva everywhere?
Parents’ responses revealed that most children do this. In later life, many children outgrow this. The children often rub their hands and keep them next to their ears. It makes a certain sound. Some children also chew on their hands. However, there are no known solutions. 

Do other children experience problems with a low immune system?

A number of parents responded that their child is also experiencing problems. With one child, they have increased the dose of Hydrocortisone during periods of illness and stress, which had a good effect.

Are your children often sick or do they have a fever in summer?

Parents’ reactions show that they are not sure whether it actually is a fever, but the children quickly overheat. They recommend to cover the children while they are outside or to keep them indoors.

Do your children have a sudden fever?

Here was a response from a parent. Her child also got a sudden fever. There are potential problems in an auto-immune disease of the blood. It could be an autoimmune blood disorder.

We give our child ‘ Manuka Honey ‘ to keep up the immune system.

This honey has anti -bacterial effect and seems to work well . Other parents have experience with this , they give their child ¼ to ½ tablespoon per day but it must never be warmed up.

My child is sick every two weeks in winter and then stops eating . After a few weeks this process repeats itself. Does anyone recognise this ?

A large number of parents recognise this. Symptoms range from ear infections to respiratory infections and infections of the bowel. For some, these periods of illness occur every few weeks , with others they occur every few months or a few times a year . The children often have a different content of IgA ( ‘ antibodies ‘) of the immune system so that they do not have enough resistance. Some parents reported that it improves as the children grow older.

What do your children like to do outdoors in the summer?

Parents reported that their children like: hiking (in the cart), playing with some toys on a blanket under a tree, a (syringe) bottle of water, a water gun, a playground to swing and slide, a bubble machine in the garden, walking in the park , feeding the ducks, visit a zoo or aquarium, a small pool with water or sand in it, a foot or hand massage, making foam with a foot massage device.

What medication does your child use for constipation?

One parent indicated the use of Movicol for constipation. It works just fine.

What medication can help my child for a good night’s sleep?

Some children get Melatonin for this. For some children it worked for a few months, for others, it is still working. For other children this worked well for a good night’s sleep.

Has anyone had success with medication against negative behaviour such as hitting, pinching, biting and hair pulling?

Parents indicate positive effects with Gabapentin (medication for epilepsy and nerve pain)  and essential oils. Many other means have been tried without success.

Do children with ATR-x lose their teeth prematurely?

There were different answers. They do not lose their teeth prematurely, but in a different sequence. Some children have strong primary teeth and didn’t lose these teeth.

How many teeth do children with ATR-x have at the age of three?

There were several reactions. These responses showed that at the age of two to six years, the children are missing several teeth.

Is discoloration of teeth more common in children with ATR-x syndrome?

The response was that due to the ATR-x syndrome, the enamel of the teeth is very weak. The combination of saliva and weak enamel is a reason for discoloration of the teeth. In addition, medication may also be a cause.

What do other parents do to reduce salivation of their child? Our child has tried a Hyocine Patch, but it was not working. And Glycopyronium Bromide / Glycopyrollate 1mg 3x per day, did not work either.

The responses showed that another child had botox injections which had a positive effect. Other children used a z vibe. Children can chew on this and strengthen their jaw and tongue muscles. This has a positive effect. One parent gives the homeopathic remedy ‘ tinctura Belladonnae normata 70%’ to her child which has decreased the drooling by 90%.

Another parent indicated that the salivary glands can be removed and that the saliva tube is tied off. By other children the salivary glands have been removed. Another parent indicates that the salivary glands were moved to the back of the mouth, but that has not helped.

How can we ensure that our child drools less? Our child puts everything in his mouth which causes drooling.

Other parents know the symptoms, but they do not know how to stop it. They recommend to go to a therapist and talk about oral stimulation.

Do children with ATR-x always keep their mouths open?

All parents responses indicate that their children always have their mouths open. They only close their mouths while eating and drinking.

Do all children around 19 months old put everything in their mouths?

The responses show that all children do this. In some children, this reduces and sometimes it even disappeared when they were older.

My child has Dystonic Spasms (abnormal, involuntary contraction of the muscles). Do other parents have experience with this?

There are no comments from other parents . Doctors have given the child some valium to stop the contractions .

Are other children also so strong in their grip and bite?

Parents recognise this in large numbers and indicate that parents should be careful and alert to sudden grabbing, pinching and/or biting by their child. Parents indicate that over periods it may get worse but that this behavior, as they grow older, will often improve.

My child shows regularly involuntary ‘jerky’ movements. Do you recognise this?

Parents recognise it. One parent indicates that a physician diagnosed it as ‘Chorea’, a neurological symptom. It consists of sudden, rapid and undirected movements. The movements are particularly prevalent in the face or in the distal extremities. Another parent indicates that they are ‘paroxysmal episodes’, a sudden recurrence or exacerbation of symptoms such as spasm or epilepsy. What touches parents is the fact that their child cannot control it by himself, knows about it and does not like it.

Do other children also have Myoclonus?

(Myoclonus is a brief, involuntary contraction of a muscle or group of muscles)? Other parents recognise this in their child, especially in the arms and legs. Doctors indicate that this is dystonia; a breakdown in muscle tone. The moves may look like epilepsy and range from mild to quite noticeable spasms. The EEG of these children shows nothing alarming.

Are there any children who have also been diagnosed with autism in addition to the diagnosis ATR-x? And at what age can they be tested best?

Some parents reported that the diagnosis of autism was made before the diagnosis for ATR-x. Some parents reported that symptoms of autism were worse in the younger years and that the symptoms decreased as some children got older.

Are there any children who, besides ATR-x and autism, also had the diagnosis Cerebral Palsy (CP)?

There were three parents who reported that all three diagnoses were given to their children.

Is anyone familiar with Carnitine Deficiency?

Carnitine Deficiency is an inherited condition where the body cannot convert fat into energy properly. The cause is a change in the genetic material. There has been no reaction to this.

Are there children who are diagnosed with PVL and ATR-x syndrome?

Periventricular Leukomalacia (PVL) is damage to the brain tissue that can occur in premature babies. It is an injury to the white matter adjacent to the ventricles. There were four other parents who reported that their child, besides of the diagnosis ATR-x syndrome, also has PVL. One parent responded with “I have not heard whether it occurs within the ATR-x syndrome, but so many of our children have different conditions besides ATR-x syndrome itself which others do not have.”

How many individuals are diagnosed with ATR-x at the moment?

Parents reported that it is difficult to determine. Dr. Gibbons in 2006, indicates the number of 168 children diagnosed. However, the expectation is that there are many more and that many boys / men with ATR-X syndrome remained undiagnosed.

My husband and I cope differently with the care of our child and that frustrates me. I am afraid that this will lead to a divorce. How did other parents solve this?

Parents say they bring their children regularly to a guesthouse so that they have some time for each other. Others ask a babysitter so they can have a night away. Other parents indicate that it gets better after a period of time; first everyone needs to accept, in their own way, the fact that their child has a disability. Everyone reacts differently to this. They indicate that it is important to talk about your feelings and give each other the freedom to grab some time for themselves or with friends.

What resources do parents use for their child?

Parents use various tools:

o Walker

o Adjustable bed

o Special bicycle/tricycle/tandem

o Special buggy/stroller

o Special Footwear

o Special splints for ankle and foot

o Wheelchair

My child has grown out of its normal buggy. What do I need to do now?

There are companies that specialise in buggies for bigger children with special needs. These companies make available their different buggies on the internet.

Is an ‘Upsee’ easy to use?

(An Upsee is a mobility device that lets children with motor impairment stand straight and walk with the help of an adult) Parents are very enthusiastic but indicate that if the shoulders of the child are above the adults belt, it is a burden for the adults back, and they are then discouraged to use it. It is suitable for children who have good control over their head and can bear some weight on their own. It’s good for training muscles and walking. It’s great for children to see the world standing up and it helps them to develop.

My child needs bigger diapers, but where can I find them?

Incontinence material is available at specialist companies that can be found on the Internet or through the health insurer. In general, the diapers are reimbursed by the insurer.

Are there any children using assistive or alternative communication devices?

Some parents say that their child used a special support program on the iPad. Other parents indicate that the iPad is typically used by their child, not only for (supporting) communications (pictograms and sign language) but also for leisure pursuits. Sign language is often used from the age of 3, but it may take some time before the children understand what they have to do. Usually learning sign language and seeking alternative means of communication happens in consultation with the speech therapist.

Do your children have apnea attacks during the day?

Responses revealed that some children with ATR-x need extra oxygen when they are sick. Parents say that the children get supplemental oxygen overnight. During the day oxygen is given only when they have such an apnea attack

Do other children also have problems with oxygen after surgery?

Several parents say they recognise this after their child was sedated for surgery. They needed additional oxygen for some time and had to stay in hospital longer because of this.

Our child is breathing very rapidly and often faints. Do you recognise this?

Some parents report that their child suffers from a lack of oxygen when they breathe to fast. Often it is just for a short period of time and later the breathing will return to normal. Some children hyperventilate.

Our child is only a few months old and needs heart surgery but this can only be done when his breathing and oxygen level are okay. If this is not the case doctors indicate that there is nothing more they can do. Are there other parents whose child needed surgery and has this been done?

Parents indicated that their child got extra oxygen until doctors could do the heart surgery when the child was strong enough at 9 months old. Since then the child has not had any heart problems and only needs supplemental oxygen at night due to apnea that causes the oxygen level to drop. Also their child has had surgery to remove tissue in the throat that flapped in front of the trachea (Laryngomalacie). This is recognised by other parents. Their children were also at a young age (often a few months old) when they needed this operation. Other parents reported that their children have obstructive and central sleep apnea and that they especially at night need extra oxygen. With some children, this improved over the years and they now only need oxygen when they are sick. In a number of children a tracheostomy was almost placed but parents refused to have this operation done. Also, parents indicate that their children had a very small chin which led to problems with breathing. This naturally resolved itself when the children got older. Several parents reported that it makes sense to go to a special children’s hospital because they have far more knowledge and experience in helping children.

Are there children who needed a tracheotomy in later life?

One parent responded, their child had a tracheotomy when he was 19.

Do children have specialised programs at school and do they show any progress?

One parent states that her children go to a school for severely cognitively impaired and they work on communication / socialisation, gross motor and fine motor skills. Furthermore, parents are involved with the decision-making in their therapies. Some children go to a regular school until they are 3 to 5 years and from there they attend special education or special children’s centers where they receive different treatments (physiotherapy, speech therapy, occupational therapy, etc.). Other parents keep their children at home and ensure that they receive therapy and counseling there. One parent said their child will get a special communication course at school to improve his speech.

We will soon have our first conversation with the school/day center/day care. What should we be aware of?

Make sure that they look at the needs of the child, try to indicate clearly or consult what are the best goals for your child and what is needed to reach this (e.g. physiotherapy, speech therapy, occupational therapy, etc.). If there are specific requirements regarding food, drink and/or sleep the day care needs to know of them. To communicate use a book/script in which every day can be written (e.g. What they did that day, if there are problems regarding the behavior or even if they needed extra clothes or diapers). Make sure you know who your contact person is and how this person can be reached best. As a parent you know your child best; try to think if your child will feel happy in this environment.

Do your children suffer from sensitive fingernails?

The parents’ reactions were mixed. One child suffers from this and the other does not. What does stand out is that all children have a very high pain threshold.

Are other parents struggling with the sleeping problems of their child with ATR-x? And do they have experience with Melatonin?

The reactions showed that the use of Melatonin has a different effect on each child. One parent also indicated that Melatonin did not work, but Clonidine does. Another parent went to the neurologist to investigate whether the sleeping problems fit in with ATR-x.

Do children with ATR-x use a CPAP or BiPAP at night for their ventilation? Using this our child gets respiratory infections.

In the reactions of parents it is clear that many children suffer from apnea, but they have no significant problems with respiratory infections.

Do other children have restless nights?

Many parents say that their child is sometimes crying, jumping or playing at night, has very restless legs or is ‘banging’ against the bed. The next day the children are usually very restless and have many problems such as biting, scratching, hitting and pinching. No one knows the cause.

Do ATR-x children with feeding tubes also suffer from vomiting or other reflux symptoms after feeding them through a tube? In addition, the food stays in the stomach for a long time.

Two other parents indicated that their child with ATR-x experiences the same problems using enteral feeding. One parent recommends the drug Cyproheptadin and indicated that this helps well against these problems.

We experience many eating problems with our child with ATR-X. He cannot tolerate baby food, but also cannot tolerate solid food. Do other parents recognise this?

Other parents also state that their children suffer from nutritional problems. Several parents advise to puree the fruit to make smoothies. Especially banana smoothies were well liked. Another solution was to start with Sorption (a high-calorie milk), and when this works to go on to fruit smoothies.

Are any of the children diagnosed with rumination?

What parents thought was reflux is proven to be rumination: the child vomits food, chews and swallows it again. Some parents recognise this. One parent indicates that it became less as her child got older.

Are there children with ATR-x who have suffered from reflux disease and stomach pain known as stomach migraine?

Several parents recognised this in their child. They indicate that their child intermittently yells from pain. Due to increasing air in the stomach they have to release the pressure through a G-tube (a catheter replacement PEG). If they do not release the air, the child will vomit. They also often notice that the last meal has not yet been digested. A parent gave as a solution to stop administrating food and administering only fluids for 24 hours. This relieves the pain. One parent gave the following solution that has helped his child well, namely: a gluten- and dairy-free diet, probiotics and minerals / vitamins and digestive enzymes diet. Another family has an appointment with an expert in cyclic vomiting and migraine. In a subsequent attack they will administer medications for migraine headaches and muscle relaxants. This stops the attack within 24 hours.

Are there more children diagnosed with cyclic vomiting syndrome / migraine and gastroparesis (delayed gastric emptying)?

Other parents confirm this. Their children all have a G-tube or GJ tube (Gastrostomy Jejunostomy tube). They can easily let the excess air from the abdomen. One parent indicated that they provide food and medicines through the J-tube and that they release excess air pressure through the G-tube. Another parent indicates that their child gets a daily doses of Cyproheptadine and Ranitidine and that Onondestrum is added at the moment at which there is an attack.

Does anyone have tips for constipation and burping because my child often suffers from this?

Other parents gave tips like using laxatives (after consultation with a physician) or requesting an endoscopy to find out what exactly the problem is.

My child has mucus in the stool, what can I do?

The following has really helped namely; the use of probiotics and aloe vera water, along with Miralax (a laxative). It is wise to consult a doctor first to determine the cause of the mucus.

Are there more children with ATR-x who suffer from stomach pains and problems with the gall bladder?

One parent said that his child has stomach trouble when eating vegetables and beans. Another parent indicates that her child does when eating something sour. Another parent indicates that her eldest child had the gallbladder removed due to problems with the gallbladder. After that, the child got a feeding tube and now all is well. One of the parents advised to keep a food diary of what foods the child can and cannot tolerate.

What are the positive and negative experiences when using probiotics?

Parents have varying experiences with the use of probiotics.
Some parents do not notice any difference, some notice worsening symptoms. Other parents advise to combine the probiotics with laxatives. That seems to help.

Who has experience with Liquid Hope (The World’s First Real Food Organic Wholefood Formula Feeding Tube and meal replacement)?

Parents who responded had no experience with this. However, they did have experiences with PediaSure, but were not satisfied with it. Some parents reported that they were going to try Liquid Hope.

Does anyone have experience with Fundoplication Surgery? Is it harmful to flatulence, which is just as big a problem as the reflux?

(During Fundoplication Surgery the upper curve of the stomach (the fundus) is wrapped around the esophagus and sewn in place. This way the stomach stays in the abdomen and the sphincter works better.

Two parents indicate that they were happy to have had this surgery done to their child. Other parents have doubts about this and have decided later to post a g-tube. As a result they were able to release the excess air that the child swallows. Several parents state to have posted a g-tube. Because the excess air was released, the children also suffered less from reflux / vomiting.

Our child suffers from dystonic spasms (sustained muscle contractions) in the intestines. The child cries, screams and has jerky movements of arms and legs. We see he is in pain, what can we do?

Other parents recognise this. Drugs given by doctors include Co-Careldopa (dopamine). Other parents say that their child has particularly suffered from air and feces in the intestines. They received Movicol or an oil-based laxative for these complaints. One parent said that their child had an ulcer. The child received Omeprazole and Risperdal (the latter to relax). One parent reported that their child has Eosinophilic Esophagitis, a chronic inflammation of the esophagus that is most likely caused by an allergic reaction. This child gets Gaviscon as medication.

My child won’t stop eating, sometimes he eats 1 to 2 hours at a stretch. I think his brains are not getting the signal that he is full. Yet he is still under the weight and length of other boys his age … Are there other children who eat this much?

Several parents recognise this with their child. One parent indicates that the doctor said that it is increased metabolism, this is a fast metabolism which burns more calories and causes the child to lose weight. “The calories burn up as soon as my child eats them.”

Do other children begin to retch at the sight of food for no apparent reason?

One parent indicates that her child used to do this too. They have placed a nasogastric tube and the problem was solved.

Do other children also suffer from nutritional problems? We now use a feeding tube to the stomach, so that no reflux can occur.

There is one parent that does this. Other parents have modified the food. This had a good effect.

Does anyone know anything about gene therapy?

The responses show that the neurologist indicates that there is no gene therapy for ATR-x available yet.

Is it possible to potty train children with ATR-x?

There were different reactions to this question. Some children are potty trained during the day and wear diapers overnight. Other children are completely incontinent. Parents can try to train their child.

What treatments do the children have and how often do they have the treatments?

Most children attend a special day center and get the therapies there. Parents reported that their children receive the following therapies: Physiotherapy and Occupational Therapy. Also, children often have other exercises in Physical Therapy, Speech Therapy (voice, gestures, eating therapy or therapy for mouth closure). Further, other children get Craniosacral therapy (This treatment consists of gentle manual techniques, relaxing their connective tissue. Thus, the organs, muscles, spinal cord, or meninges are beneficial treatment. Also the respiratory, circulatory, musculoskeletal system and the nervous system benefit from this therapy and function better), and many children also receive music therapy

How do I know if my child has too many therapies?

Some children find themselves bogged down with the various therapies but on the whole they certainly benefit from them. The children also seem to think it’s all fine and okay . And as a parent, you will notice when it’s all too much for your child.

Do you visit a pediatrician who specialises in developmental disorders or do you visit a general pediatrician ?

Some parents visit a specialised pediatrician . The appointments and reports help them to map the need for certain therapies and other medical issues and to see what is most urgently needed at that moment.

How often do parents go for a follow-up visit to the Clinical Geneticist?

If the children are still small, most go about once a year. When the children are older they often make an appointment once every few years. This way, the children can be monitored and checked regularly in their development. This is an ideal opportunity for parents to ask questions.

Do children have specialised programs at school and do they show any progress?

One parent states that her children go to a school for severely cognitively impaired and they work on communication / socialisation, gross motor and fine motor skills. Furthermore, parents are involved with the decision-making in their therapies. Some children go to a regular school until they are 3 to 5 years and from there they attend special education or special children’s centers where they receive different treatments (physiotherapy, speech therapy, occupational therapy, etc.). Other parents keep their children at home and ensure that they receive therapy and counseling there. One parent said their child will get a special communication course at school to improve his speech.

When did other children with ATR-x start walking?

The responses show that most children could walk independently when they were 8. They began to sit independently around the age of 2. Literature shows that about 45% of the children learn to walk.

Are there therapies or technologies to teach a child with ATR-x how to stand and eventually walk?

From the responses, the following therapies emerged: physiotherapy, hope therapy, the move program and SMO.

How do the children who can walk cope with stairs? Can they go upstairs and downstairs on their own?

Many parents respond that their child can manage to go upstairs, but that they need support or help to go downstairs. Some children may go themselves upstairs and downstairs. Many families have a bedroom and a bathroom downstairs for the children so they don’t have to climb stairs. The children who climb stairs without difficulty have learned this between 2 and 5 years old. One sister indicates that her brother could climb stairs when he was younger but no longer can manage stairs at the age of 43.