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Supervised by the doctor of physical medicine,all relevant paramedical specialties to the management of ataxia telangiectasia.

The doctor of physical medicine and rehabilitation (PMR) is the one who will coordinate the different specialties in this chapter with the objectives for the patient with ataxia telangiectasia to:

  • maintain or improve functions or, failing that, try to slow the functional effects of progressive degenerative condition
  • promote independence
  • improve the quality of life

Under the terms of the charter of PMR, his action-oriented ethic respects the interest of the patient by the issuance of appropriate informations to enable the latter to make an informed choice.

The doctor of PMR in the center of the follow-up


If the medical follow-up, that is to say concerning the causes and consequences of the pathology, is carried out by the doctors whose specialties are described in the previous tab Si le suivi médical pur, c'est-à-dire concernant les causes et les conséquences de la pathologie, est effectué par les médecins dont les spécialités sont décrites dans l'onglet précédent (Suivi médical), the taking over of the daily lives of patients with ataxia Telangiectasia is partly the responsibility of the doctor of PMR.

Depending on the needs of the patient and with his agreement, he will offer him an overall care to optimize the maintenance of his functions and material adaptations to maintain his quality of life in his everyday environment. This project is developed from a consultation, from the dialog with the other physicians taking care of the person with ataxia telangiectasia and opinions of the multidisciplinary paramedical team around him. It is a long term follow-up and is adaptated according to changes in the patient but also to the available resources . This makes the PMR doctor a very good connoisseur of the patient with AT as he is the only one to follow his behaviour changing in his environment, especially by the reports of professionals in the paramedical team frequently involved with the patient.

The PMR doctor: a team leader


Besides the fact that he can of course have a private office, the PMR doctor is very often a coordinator of a paramedical staff in specialized centers of care (such as CAMSP or SESSAD in France).

Indeed, he has the pointed knowledge each of the re-education specialities and of the advantages that can be expected in the treatment of a patient.

He transmits, gathers and exchanges all useful information on material novelties and new therapeutic methods.

Having moreover the knowledge of the medical record of each patient, it is able to decide what are going to be the actions to focus on and which specialities are going to intervene to balance them in the daily of the patient while handling carefully his quality of life.

To summarize, the PMR doctor is one of health and social referents that the patient with AT will consult for the problems of everyday life. He will propose solutions, adaptations, tools and skills of paramedical specialties covered in the following articles.

Physiotherapy aims to maintain or restore normal movements of the human body, its "mechanics". It is particularly important in ataxia telangiectasia to fight against rigidity, muscular and coordination problems that develop gradually with neurodegeneration and amplifies it. .

Respiratory physiotherapy


It is surprising to find physical therapy as a cure for respiratory condition and chest physiotherapy in the range of care for patient with AT. But considering the one hand, that respiratory infections are common in AT and on the other hand, that expectoration and breathing are mechanical phenomena, it becomes logical to find physical therapy in the range of means to fight against AT.

The first interest is healing: the goal is to loosen the secretions from the walls of the airways and to evacuate them. But after the infection, it is also interesting to maintain lung capacity and, if aftereffects remains, to perform respiratory care maneuvers. The physiotherapist uses different techniques for this:

  • The clapping (set of strong constraints applied on the chest with the palm of your hand). This technique has been abandoned for some more efficient.
  • A Caused and assisted cough. Note here that the operation is a bit uncomfortable, the therapist compressing the trachea to cause cough. It is justified only in very young children who can not cough on demand.
  • Vibrations, preferably manual, applied on the expiratory time.
  • Ample, active breathing as soon as the child is in age to blow alone. These active inspirations-expirations can be easily made in form of GAMES:
    • Make a lightweight sheet move in the air as long as possible
    • Blowing bubbles in a glass of water with a straw. You can motivate a child by counting the seconds aloud, and he will try to "beat" his record . 10 to 15 seconds is a good score for children 3 to 5 years old
    • To shake the flame of a candle without extinguishing it. This exercise can learn to master both the power of the expiration, its regularity and the flow direction, which has the advantage to make work the muscles of the face in addition to thoracic respiratory muscles.
    • Finally, at the end of a session, ask the child strong and short expirations (move the candle further and further, move as far as possible a small foam ball on a plane ... etc.)

Most of these techniques are painless but generally impress young children who don't like chest physiotherapy. From the moment they can cough voluntarily, it is psychologically important to focus on the fun by involving them actively.

To prevent vomiting, it is better that the sessions take place either before dinner or after digestion. In addition, it is imperative to spit secretions that would emerge spontaneously: in addition to containing the pathogens causing respiratory infection, they can accumulate in the stomach and lead precisely to these vomiting.

Laughter is also an excellent maneuver to clear the lungs. If it does not work in depth, it is an excellent preparatory exercise for the respiratory session and will make it shorter. So make your kids laugh!

Finally, for a good day or good night, it is interesting to place these sessions either early in the morning or at night before bed.

Maintenance of mobility


There are two aspects in the neuromotor degeneration of ataxia telangiectasia:

  • One purely neurological part, that is to say concerning the central nervous system (cerebellum, basal ganglia, brain stem) and later, reaching the peripheral nerves.
  • One motor part which tends to disrupt the muscle tone in the way of stiffness or weakness, and elasticity of tendons and ligaments, which can cause very disabling deformations, particularly in the feet and ankles.


It is this second aspect that will concentrate the work of the physiotherapist. He is the professional who is fully aware of the physical condition of his patient with AT. Besides the need for regular assessment in relation to the occupational therapist and the psychomotor, his action should focus on maintaining capacity rather than the correction of a defect that, if installed, will be virtually impossible to recover as part of this neurological disease. That's why the partnership with the physiotherapist must settle early.

On the first point, the therapist will try as much as possible to maintain the analytical and functional skills on the motor commands, balance and coordination in major motor functions.

As part of maintaining attitudes, the work shall particularly take place on:

  • The detection of deformations
  • Control and maintenance of muscle tone: for example, it is generally quite low in the hips and knees as opposed to the feet and ankles when he is too strong.
  • Maintaining flexibility: for example, a progressive retraction of the tendons and ligaments tend to limit the range of motion to lead to progressive muscle rigidity, such as equinovarus (the feet and ankles fall gradually towards the inside and clench irreversibly). Sometimes, standing and walking are not possible any more. The only way to recover it partially is then surgery: the orthopedic surgeon will "weld" permanently the ankle to the foot at right angles or propose a gesture of muscle-tendon stretch. The person may recover part of its autonomy.
  • Maintaining stability by seeking appropriate positions: to play on the ground, for example, avoid sitting in W and focus on cross-legged position which can best balance the body and allow to use arms more accurately. No risk of deformation has been identified due to these positions.
  • Maintaining mobility: when the work of the three previous items is no longer sufficient to maintain stability in the walk, the use of equipment to assist mobility or a wheelchair is essential. The role of the physiotherapist will then allow the patient to maintain autonomy by working with him on transfers for example.
  • Consideration of fatigue

Use of appropriate equipment


It is usually the physiotherapist who will decide when the patient need a support material for his displacements. He will then lead him to a doctor of physical medicine and an orthopedic and / or a podiatrist. It should be borne in mind that the purpose of use of equipment is not to correct but to make the prevention and increase patient comfort. Indeed, once the anomaly is installed, it is rarely possible to catch up and trying to do so at any price would mean to hurt the person.

When independence is gone, the role of the physiotherapist will be to teach the methods of transferring to the patient and his family and to maintain the patient's ability to carry its own weight to help them.

online helvetica, capsule sans-serif;">The occupational therapist (OT) is one of the most important support professional for patients with AT. His role is to find ways and techniques to enable people to remain independent as long as possible in the acts of daily life, decease that is to say:

  • Eat
  • Wash
  • Dress
  • Work

Areas of expertise


Where the role of the physiotherapist is to maintain the tool "human body" operative, the OT will work on its use, especially on:

  • Fine motor skills
  • The use of the arms and hands aiming at for the necessary stability to use them
  • Visual coordination with motion

For this, the OT offers:

  • Appropriate objectives and exercises
  • To adapt the environment to the person
  • Recommendations of equipments

Goals are adapted to the age of the patient with AT:

  • Early childhood: explore the world through play and develop coordination
  • At school: work on visual and fine motor skills for using tools such as pencils and scissors. Use computer.
  • Adolescence and adulthood: enable access to learning and higher education programs and supply the tools for independence

Ataxia telangiectasia and Occupational Therapy


The problems faced by the OT in ataxia telangiectasia are:

  • Poor coordination of movements and rebound phenomenon (see "Body control")
  • Tremors
  • Excessive movement of the head and trunk
  • Visual problems (apraxia) that impact the link between sight and fine motor skills (see " Eyes ")

Compensatory techniques


To perform various actions, children with AT develop their own techniques to stabilize and succeed.
While some are naturally interesting and effective, we must be careful that they do not jeopardize their evolution, that is to say that the habit of using a self-taught technique prevents later adaptation to perform more complex things. Others may also cause long-term skeletal deformities (vicious attitudes).

It is the role of the occupational therapist to guide them and teach them the right techniques. For example:

  • take support on the elbows to stabilize hands or on the trunk to stabilize arms
  • avoid positions where the members are far from the body, which amplifies the difficulty in controlling movements and tremors and therefore reduces accuracy.
  • ...

Equipment


There are a wide range of equipment on the market designed to meet the specific needs of people with disabilities in all aspects of their daily lives. But often, some ideas and the talent of a handyman may be sufficient to solve a problem. You will find in the chapter " Daily Life "a range of what, at one time or another, may be helpful to your child. This is clearly the role of the OT to guide you in this choice. Do not hesitate to ask his advice for simple things but also to equip your home, at school or at the place of other activities.

While the physical therapist's role is to keep the tool "body" in working order and that the occupationnal therapist strives to build a person's environment, the skill's area of psychomotor is the relationship between brain and body: how the brain apprehends the outside world and controls the body accordingly.

Adaptability of the brain


This scope is very broad and is not fixed: the brain and nervous system are still poorly understood. It is just beginning to glimpse how great tool it is, including its ability to constantly reconfigure for learning or repairing. For example, lobotomized people (to whom a substancial part of the brain has been removed due to a tumor or a disease) do not necessarily lose all the functions that usually locates in the removed part. The part of the brain remained in place is able to adapt and perform later the removed functions.

This adaptability, in addition to making us ever more efficient, also determines our ability to learn throughout our lives. The psychomotor works with frames of reference that will enable him, in connection with the neurologist who will determine what mechanisms are solicited in the brain, to evaluate a possible developmental delay and propose a program of exercises to correct it.
Given the malleability of the brain, there is rarely a single solution to a problem, but often more and therefore it is useless to try to describe them here.

Evaluation


The psychomotor will conduct an evaluation to assess the strengths and weaknesses of the patient. It involves measuring:

  • The ability to acquire knowledge and to return them, whether through language or visual and / or sensory capabilities
  • Memory
  • The attention span
  • Positioning in space
  • Control of movements

Limitation for the AT


If, during the evolution of AT, some lesions may affect the brain, the initial damage is mainly the cerebellum, the brain stem and the peripheral nerves (see body control), compulsory waypoints for orders developed by the brain, depending on its environment, to the muscles. Due to the absence of malleability, they can not repair or develop a circuitous route to ensure a function when a lesion develops.

Thus, the work of psychomotor can not focus on rehabilitation (recovery of lost functions) but rather on the stabilization of a function or the development of other ways to achieve the desired result.

The Speech and Language Pathologist (SLP) will soon have a crucial role in the management of ataxia telangiectasia. Indeed, he is the one who will intervene in the problems of speech and swallowing caused by neurological deterioration in this disease. >

Swallowing


For swallowing, speech therapist's role will revolve around three objectives:

  • The safety of swallowing
  • The ability to ingest sufficient food quantities
  • Keep the pleasure of a meal


Working with a physiotherapist and a dietitian is desirable.

Around a work of rehabilitation which aim, again, at maintaining skills without trying in vain to correct what is already installed, some simple recipes will allow to get some results. They are detailed in Chapter "Eat" .

Salivation


To avoid the problem of saliva coming out of the mouth, the patient with AT should be reminded to swallow often.
He can also wear sponge bracelets, like those worn by the athletes, to wipe himself.
Finally, drugs exist to control the problems of excessive salivation whose efficacy and tolerability varies.

Speech and langage


We saw in Chapter Speech how language and sometimes understanding disorders can affect communication for patients with AT.

Work on breathing or on mobility and strength of mouth's muscles can sometimes give some improvements, but their long-term outcome is not evaluated in ataxia telangiectasia.

However, learning of adaptation techniques to counteract the first disorders such as dysarthria for example is very useful. This may include:

  • to learn to remember or to use only the important words in a sentence. For example, say "drinking water" instead of "I would like some water please." This technique must be mastered before the language difficulties become important or fatigue is high.
  • Similarly, when asked a question, for example in the case of an lerning session, an AT patient may have difficulty finding a word. This is not a problem of knowledge but of brain work. It may be useful to give a description of it or the first syllable.
  • Closed questions are preferable (answer "yes" or "no")
  • When it comes to making a choice among several complex proposals, assign a number to each proposal allows the patient with AT to respond only by giving a number.
  • For the patients who are aware of their communication difficulties, making a small gesture indicating the audience to wait gives the patient the time to make his sentence.
  • Language support systems that allow, by pressing words and pictures on a touchscreen, to synthesize voice are not unfortunately of a great interest for AT patients: they assume in fact a good motion and view control. This is not quite the same with the keyboard of a computer provided the hands fit snugly over, so that only the fingers have to move. Learning the place of the keys on the keyboard should also be started early not avoid painful visual research. (See " Keyboard ")


Keeping in mind that man should not fight against something that is not correctable, risking to generate unnecessary efforts and fatigue, the work of the SLP should be to maintain existing capacity and develop effective communication skills.

The extreme threat of ataxia telangiectasia leads to considerable stress for the patient with AT and his family. It is the role of the psychologist to help them overcome by the listening of course, but also by offering the patient pathways enabling him to build himself and to exist in society.

In young children with AT


A young child is very concrete and takes place in what he does. The first difficulty, the first questions concern the difference with the others, when for example he can not participate in a physical education or that it needs a specific equipment. In general, the answer to the question "why me?" must be based solely on what the child lives, be full of imagerie, but not project too far into the future. A coherent response should suffice. Indeed, a young child thinks in the short term and finds gratification in what he succeeds, even if it is not the same things as the others. However, and in any case, the answer must be false because the more it is delayed, the more the management of the truth is difficult.

It may be necessary through the teacher to say a few words in class about the difficulties of the child with AT, because it does not do everything like everyone else or that he alone has the rightan to assistant helper of scholastic life for instance. Once things are said, the young children ask no more questions and the child with AT is often more easily integrated into the group, even protected.

Consulting a psychologist with experience of disabilities, including neuromotor ones as can be found in specialized centers, is obviously indicated. Be careful though to make it clear that the ataxia telangiectasia, not necessarily well known, is a progressive disease in contrast to other conditions. This is very important for the psychologist in the choice of methods he will use.

In older children with AT


Throughout his intellectual development, the child with AT becomes aware of the concepts of time and future. Existential questions come: "Why life? Why death? ". The child projects and anxiety that results is multiplied by the consciousness of being touched by a threatening disease. It is not uncommon that, at the key age of adolescence, the child with AT is depressed. Contributing factors are:

  • The feeling of injustice
  • The loss of skills, so of independence at an age where precisely, we want to win it.
  • Sexuality badly lived: in addition to hormonal problems and infertility which may delay the development of sexual characteristics is the question of the gaze of the opposite sex in a society where appearance is erected in value.
  • The isolation of his comrades driven by the difference, misunderstanding or even marginalization due to not being able to participate in certain activities
  • Guilt: the feeling of forcing the family to organize its life and time around him

This leads to frustration, loss of confidence and loss of motivation.

In addition to psychologists with experience of disabilities, those who treat those patients with threatening long-term illnesses, like cancer for example, have the skills to help these youngs with AT.

Much of the work of the psychologist is to maintain the image the child has of himself as and when his condition deteriorates by indicating how to continue to achieve success in his social life. This requires the evaluation of his weaknesses but moreover of his strength. The goal is to maintain at all costs social relations, particularly with peers. The search for solutions are coming through:

  • Maintaining the autonomy to be able to join a group, but it relies more on the use of adaptive equipment: it is the work of the physiotherapist , the psychomotor and the occupational therapist .
  • The opportunity to take decisions alone: this is what makes the young with AT exist as an individual.
  • Keeping in touch with his friends. This is critical: knowing the young with and his pathology, his comrades won't arise any more the question of the disease and will provide distraction, social ties and the impression to exist as a good friend.
  • When the physical possibilities come to prevent the practice of routine activity, nothing prevents the young with AT to become assistant coach or leader of a group of younger children: therefore, he passes on instead of receiving and this will both increase his standing in the eyes of his friends and give him personnal satisfaction.
  • All activities do not involve the physical possibilities: puzzle games clubs, journalism, theater (directing, writing), etc ... are accessible as long as possible difficulties of communication are explained to participants.
  • Increasingly, young people communicate through communication networks. Internet is such a great way to maintain contact with family, friends and online games perfect for integrating into a group.

Finally, it is not because the outlook of the disease are very dark that one should stop from planning projects: some children with AT go to college, some are working. It is important not to give up and support the child with AT in its projects and its success. No one knows what tomorrow will bring.

In the family


Most of the problems of patients with AT are also expressed in the family circle for reasons sometimes similar, sometimes different. The same psychologists who deal with children's issues can also treat those of the family. They face the following problems:

Sense of injustice and guilt:
Having transmitted such affection to our child and in fact make him a living hell: why him? why us? But in reality, in a country like France, there are 3 or 4 million people concerned with one of the 7000 "rare" diseases, that is to say, which affects fewer than 30,000 people ... 1 in 20 ... 80% are genetic and most are orphans, that is to say they have no known cure. Not to mention other diseases. Certainly all are not as severe but the conclusion is that, like death, disease is part of life. So there is no answer to the question: why?

Frustration:
Seeing that our child can not have a normal life, not knowing what to do to help or heal, the apparent lack of hope in the current state of medicine... This frustration will depend very much on the psychological state of the child with AT. In addition to what has been discussed in the sections above to maintain his mental balance, the fact of seeing his family involved in the fight against the disease may be beneficial. It is in any case for family members who are, by giving the impression to take control of their own destiny and the one of their child. With the arrival of AT Europe, efficient structure just like the one of the English AT Society and the American ATCP, a global network of fight against ataxia telangiectasia is set up and allows families to invest effectively in this fight. As for medicine, we live in an age where everything seems possible: then, more than ever, there is hope.

The sword of Damoclès :
The fear of a complication, the prospect of a written future. By its very progressive nature, ataxia telangiectasia leads necessarily towards more or less serious complications and it would be illusory to believe the contrary. But as the symptoms are expressed in different ways depending on the patients, no one knows when or what complication will appear. Nobody knows either if, before it appears, a researcher will not found a cure for it. Who can predict the future? We must force ourselves to stay philosopher: carpe diem, we do not know what tomorrow holds, then there is no need to worry too much about and anticipate.

Isolation:
The feeling of being alone in the world facing the illness of our child, finding no support at associations, not being able to share our experience, finding no informations nor medical expertise, not feeling sufficiently considered in the medical field, noticing the condescending glances sometimes annoying, having to explain again 100 times... AT Europe can unfortunately do nothing for any inconvenience caused by the gaze of others, but keep in mind that the condescension in it has positive values such as kindness and goodness. However, the AT Europe website, with all its information, forum and the community of families of AT Europe were thought to break this isolation.

Siblings:
It is difficult for parents to spend as much time and take proper care of any other of their children for whom the impact of the disease progression of their sibling with AT is also considerable. Raising a child with AT requests a lot of energy, time, and often represents the main concerns of parents who may be unintentionally less available for the other healthy children who grow up next door. They may feel left out in addition to suffering the trauma of seeing their brother or sister deteriorating gradually. Good observation of their behavior, their academic performance and an ongoing dialogue with teachers is essential to detect any psychological disorder. There are consultations involving several siblings of sick children that allow them to express themselves beyond the control of parents and share experiences.

The material aspect:
Equip or adapt its housing can be very expensive and sometimes impossible, increasing the frustration. Being closer to a suitable medical facility or school may require a move, the management of children with disabilities may require to change job or even stop working, with all the relating consequences...

Points of vue:
Manage without opposition, within the same family, different ways to cope: more or less medicalization, alternative medicines, religion ... everyone has to find its response to the illness of the child. And anyway, who can judge that one is worse than the other? Therefore, the only way to manage differences of approach is to make them complementary, as long as it does not come at the expense of the child.


The management of emotion and stress, the disruption of family and social life explains that depression is not uncommon in patients with AT and their families. Most of the work of the psychologist must focus on the psychological well-being of the patient which will reflect back on the family. The approach is different depending on the maturity of the children with AT, and is based on two things: independence and self-esteem.


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