A very large clinical variability is observed among children with AT. Therefore many of the symptoms described below may not be observed in a child or in the age group indicated.
Among toddlers, few signs are apparent. There may be abnormal movements of the head while sitting, the child's head will bow down gently until it straightens suddenly, for example when looking at something carefully.
The children take their first steps at the right age. In contrast, walking will long remain unsteady. But again, one got to have sometimes the sixth sense of amother to detect it.
In the midst of other children in a playground for example, balance problems become more evident, especially outside movements,in static postures (eg standing). But in this age, the child development tends to supplant the deterioration of the balance due to the disease(ataxia).
Where learning and understanding of language does not pose a problem, progressive disorder of speech may occur: the child barely starts his sentences, the words "struggle to get out" and may be accompanied by "grimaces" of effort. The flow becomes slower: it's dysarthria .
Fine motor is gradually altered: cut with scissors can be laborious, graphics trembled.
Generally speaking, a child with AT is continuously making efforts to control its movements and therefore has a great fatigue.
The growth can be slowed.
From the age of 6 to 8, the pace of child development slows down a bit. For children affected by AT, some of the symptoms described above may become disadvantageous. Others may appear, for example:
- An oculomotor apraxia: this is the difficulty for the child to follow a moving object of the gaze. The head turns first and the eyes follow haltingly with jerks
- télangiectasia (small capillaries) to the skin and the whites of eyes
- Hypotonic facies: on children's faces, their expressions do not always reflect their feelings
Although the intellectual development is not affected, motor problems lead to difficulties of learning and a certain slowness, justifying physical and / or educational adaptations .
For children affected by AT, adolescence is marked by the need formobility aids, including wheelchairs, they agree generally well.
Tremors of the extremities may be present as well as unwanted movements (choreoathétosis).
The salivary glands may begin to produce more than necessary (drooling).
Children often have an equal temperament.
Hair, skin and vascular changes may occur due to accelerated aging (Progeria).
In the general picture of Ataxia Telangiectasia, it is also described a predisposition to insulin resistant diabetes during adolescence, but it concerns only a minority.
Other possible features described in the AT
- Absence or hypoplasia (small size) of the thymus
- Endocrine abnormalities (hormones)
- Cerebellar cortical degeneration, involving mainly the Purkinje cells (cerebellum) and basal ganglia
- Susceptibility of developing a malignant tumor (carcinoma), but mainly a leukemia or a lymphoma. The proportion of affected children changes with age, approximately 20% in children up to 39% in adulthood.
- High sensitivity to radiation: it is necessary to limit exposure to X-rays (radiographs) to the tests which are absolutely essential
The prognosis of ataxia telangiectasia is severe and dominated by respiratory infections, neurodegenerative syndrome, mucocutaneous accelerated aging and a high risk of cancer.
Unfortunately there is no treatment, at present, to cure Ataxia Télangiecasie. Some tracks, however, are being evaluated by researchers.
We know, however, how to delay, improve or treat some of its consequences. Identify solutions is one of the objectives of this site.
This explains why life expectancy, about 20 years including all the comments made over the past 30 years, now regularly exceeds 25 years thanks to better management. A few patients even reach their forties.
Keep in mind that statistics are the figures of the past and do not assume the future which is changing gradually as medicine progresses ...