Ataxia Telangiectasia is also known as the Louis-Bar Syndrome. The word ataxia refers to the equilibrium problems whereas the word telangiectasia refers to visible vascular abnormalities.

Ataxia Telangiectasia is a very rare disorder affecting about one in 100,000 children. Ataxia Telangiectasia is not gender specific and occurs in both boys and girls.

Equilibrium problems

Children with Ataxia Telangiectasia have problems coordinating their movements and maintaining balance. For babies, these problems are not necessarily noticeable, but as they grow, the balance problems become more visible. Due to the equilibrium problems, children with Ataxia Telangiectasia often speak unclear. They also walk with difficulties and have a wide legged way of walking. In addition, it is difficult for children with Ataxia Telangiectasia to intentionally grab something.

Deviant movements

Many children with Ataxia Telangiectasia make strange movements with their face, arms or legs. These are explained either by involuntary graceful staggered movements called CHOREA, or by an abnormal position of an arm or leg called DYSTONIA.

Eye movements

Children with Ataxia Telangiectasia often experiences eye movement problems. The eyes cannot focus suddenly to a different point. To be able to see something on a different place, the child must   first   turn   his/her   head   and   the eyes only slowly follow. This problem is called OCULOMOTOR APRAXIA. Due to the oculomotor apraxia, activities such as reading are difficult to perform.

Muscle weakness

With Ataxia Telangiectasia the muscles of the legs, hands and arms gradually become weaker. As such, walking becomes increasingly difficult. Ultimately, most children with Ataxia Telangiectasia are no longer able to walk independently from age 10 (and will need a wheel chair to move around).

Swallowing problems

Children with Ataxia Telangiectasia often experience swallowing problems. They do not swallow their saliva well and this makes them drool easily.

Intelligence

Children with Ataxia Telangiectasia have normal intelligence.

Vascular abnormalities

Starting around age 5, children with Ataxia Telangiectasia develop visible fine vascular balls, often to be found on the white of the eyeball. These vascular abnormalities are called TELANGIECTASIA. Telangiectasia can be formed on other parts of the face as well (for example on the ears. The vascular abnormalities are harmless and give no complaints.

Skin abnormalities

The skin of children with Ataxia Telangiectasia looks like the skin of old persons, brown spots appear in some places, and in some areas the skin can be very thin. Small expanded vessels can also be seen on the skin. In addition, the hair of children with Ataxia Telangiectasia can turn faster grey. Frequent infections For seven out of 10 children with Ataxia Telangiectasia a part of the immune system does not function very well against infections. This is why children with Ataxia Telangiectasia are more frequent exposed to infections, in particular respiratory tract infections. More serious infections may also occur. As a result of the many infections, the lungs can be damaged, making them less effective and even more vulnerable to developing further infections. Slowed growth Given the manner in which the disease acts and the frequent infections occurring, children with Ataxia Telangiectasia grow less well and are smaller than their peers. Childhood cancer Children with Ataxia Telangiectasia are  more susceptible to developing certain forms of childhood cancer. Whereas leukemia and lymphomas occur more frequently, an increased risk for other forms of childhood cancer still exits. Diabetes mellitus Children with Ataxia Telangiectasia have only a slighter increased risk for developing diabetes.

Frequent infections

For seven out of 10 children with Ataxia Telangiectasia a part of the immune system does not function very well against infections. This is why children with Ataxia Telangiectasia are more frequent exposed to infections, in particular respiratory tract infections. More serious infections may also occur. As a result of the many infections, the lungs can be damaged, making them less effective and even more vulnerable to developing further infections.

Slowed growth

Given the manner in which the disease acts and the frequent infections occurring, children with Ataxia Telangiectasia grow less well and are smaller than their peers.

Childhood cancer

Children with Ataxia Telangiectasia are more susceptible to developing certain forms of childhood cancer. Whereas leukemia and lymphomas occur more frequently, an increased risk for other forms of childhood cancer still exits.

Diabetes mellitus

Children with Ataxia Telangiectasia have only a slighter increased risk for developing diabetes.

Ataxia Telangiectasia is caused by a mistake in the genetic material (the DNA). With Ataxia Telangiectasia the error is on the so-called 11^th  chromosome. One only gets symptoms of the syndrome if there is an error on both chromosomes 11.

As a result of the DNA error, a certain protein no longer functions properly. This protein normally repairs errors that arise in the DNA. With telangiectasia these errors are no longer corrected. The DNA has an important function in producing all kinds of substances necessary for various processes in the body. Due to the errors in the DNA, these substances are no longer or improperly produced, therefore causing all kinds of problems.

Story and investigation

Based on the story of the patient and findings from the investigation (equilibrium problems, vascular abnormalities, frequency of infections), the diagnosis of Ataxia Telangiectasia is often already suspected.

Blood testing

With Ataxia Telangiectasia a certain substance is often released in the blood: the alpha-fetoprotein (AFP) increased. This substance can be determined by blood tests. The abnormalities in the immune system can also be revealed by blood tests: the IgA part of the immune system is missing. Finding these abnormalities supports the diagnosis of Ataxia Telangiectasia.

Skin biopsy

A small piece of skin can be removed through a skin biopsy. This piece of skin contains skin cells that enclose DNA. Irradiating the skin cells with UV radiation causes errors in the DNA. Normally these errors are corrected, but children with Ataxia Telangiectasia lack this ability to recover. The DNA of the skin cells contains many errors after the irradiation. This can be demonstrated in a special laboratory.

DNA-testing

Through blood tests the error in the DNA on the 1 1th  chromosome leading to Ataxia Telangiectasia can be demonstrated.

X-rays

Children with Ataxia Telangiectasia are prone to developing defects in the DNA due to X-rays. For this reason, children with Ataxia Telangiectasia should have as few X-rays and CT scans aspossible.

No cure

To date there is no treatment that can cure Ataxia Telangiectasia. Available treatment aims to suppress as much as possible the symptoms of the disease or to teach the child how to cope with it in the best way possible. In general, the focus is placed on: physiotherapy, occupational therapy, speech therapy and rehabilitation. A physiotherapist can help a child to keep moving as long as possible and as well as possible. The occupational therapist and/or rehabilitation doctor can assist in facilitating a better care for the child. A speech therapist can help with the swallowing problems and advise on how to talk or communicate as smoothly as possible.

School

When the child with Ataxia Telangiectasia is no longer able to attend regular education, he/she can be referred to special forms of education for children with a physical disability.

Motion restlessness

Motion unrest of children with Ataxia Telangiectasia can be improved with the help of medicines.

Infections

Infections can be treated with antibiotics. A low dose of antibiotics administered daily work as prevention for infections. Sometimes, other medicines are needed to keep the lungs in good condition. When the child experiences serious immune system problems it may be necessary to be treated once a month with immunoglobulins (through an intravenous drip).

Drooling

There are various medicines that can be used to prevent drooling. Removing certain salivary glands or injecting them with Botulinum Toxin (for temporary reduction of saliva) may also bean option. Another option to consider (depending on the severity of drooling) is to approach the nerve that stimulates salivary glands to produce saliva.

Nutritional problems

Eating and drinking can be made easier if the drinking is thickened and the food is mashed. When eating and drinking is no longer possible, the child can be fed via a feeding tube reaching the stomach through the nose, or directly into the stomach (PEG feeding tube). As the child does not choke anymore, the risk of pneumonia is reduced when a feeding tube is used.

Guidance

Guidance and support for the parents of  a child with Ataxia Telangiectasia are also very important. Guidance can be offered by a social worker or a clinical psychologist. Contact with other parents having a child with Ataxia Telangiectasia can be established through the AT Foundation or the ADCA Association in the Netherlands.

Ataxia Telangiectasia is a severe disease in which life expectancy is greatly reduced. Most children die at a young adult age, mostly from untreatable pneumonia or childhood cancer.

Ataxia Telangiectasia is an inherited disease. A child will only get the disease if he/she receives both Chromosomes 11 from both parents. The parents themselves are only carriers and not sick themselves as they still have one healthy Chromosome 11. Because  both parents  are carriers,  brothers  and  sisters  have  a 25%  higher  risk for  Ataxia Telangiectasia. A clinical geneticist can provide further explanations on this matter.

Parents should know that it is possible to diagnose the disease through a prenatal diagnosis during pregnancy.

Family members of patients with Ataxia Telangiectasia can have a genetic ‘mistake’ (mutation)in the ATM gene. Female carriers appear to have a slightly higher risk for breast cancer. This is why the carriers are advised to be screened for breast cancer from age 40 on. In the Netherlands, all women  aged 50 to 75  are invited every two years  to have X-ray of  the breasts(mammography). ATM carriers 40 to 50 years old are advised to have yearly their breasts checked. The radiation risk for carriers is not different than the radiation risk for AT patients. Therefore, the screening – same as routine screening at a slightly later age – simply means a mammography. The risk for cardio-vascular diseases may also be increased. However, more research is needed to confirm that. Still, a healthy lifestyle (e.g. no smoking, adequate exercise, healthy diet, normal weight) are important for everyone, but for carriers in particular.