What is Aicardi Syndrome?
Aicardi Syndrome is an extremely rare inherited condition which halter the development of Corpus Callosum in the brain . In children with Aicardi Syndrome , the Corpus Callosum is either underdeveloped or is totally missing . This precondition is almost always see in new-sprung girls . Th Corpus Callosum is a bodily structure that connects the two hemispheres of the brain . Aicardi Syndrome is not believed to be an inherited condition but a term develop during pregnancy .
There is no known causal agent for Aicardi Syndrome but it is trust to be triggered by variation in the child ’s factor . Since Aicardi Syndrome is almost always regard in girls hence the sport is believed to take position in the decade chromosome which the females have two in issue whereas male person have only one X chromosome .
tiddler with Aicardi Syndrome will have frequent gaining control as baby and lesion in the lightsome tender tissue paper layer which is behind the eye . Some youngster with Aicardi Syndrome may have extra abnormalities of thebrain , eye , and theface , although the severity of the symptoms of Aicardi Syndrome is variable and differ from person to person .
What are the Causes of Aicardi Syndrome?
As state above , the root campaign for Aicardi Syndrome is not yet established but is believed to take place due to a shortcoming in the Adam chromosome due to the fact that this status is mostly establish in new-sprung girls . Under normal circumstances , people have 46 chromosomes of which two are sex hormones which are disco biscuit chromosome and the Y chromosome . These chromosomes help identify whether a child will be a missy or a boy , as girl will have two cristal chromosome and a male child will have one X and one atomic number 39 chromosome .
During normal developing of embryo , there is one combat-ready X chromosome in each cell intend that one of the X chromosome in a distaff gets deactivate during development of the embryo but in Aicardi Syndrome this second X chromosome does not get deactivated and is termed as skewed X - inactivation .
What are the Symptoms of Aicardi Syndrome?
The symptom of Aicardi Syndrome are normally seen in females between the ages of 2 and 6 months one-time . The child may have infantile muscle spasm which may later go on to full blown seizure . There may also be yellowish muscae volitantes in the eyes . These billet are caused due to lesions in the light sensible level of tissue present behind the heart normally because of Aicardi Syndrome . Some of the other symptom of Aicardi Syndrome are :
Additionally , shaver with Aicardi Syndrome may have symptoms of spine and costa abnormalities like a scoliosis . They may also have strange facial social system like a matted nozzle or enceinte ear . Some child with Aicardi Syndrome may also have sight constipation .
How is Aicardi Syndrome Diagnosed?
The diagnosis of Aicardi Syndrome is normally based on the symptom experienced by the tike but since each child may present with unlike symptoms thus further diagnostic studies to sustain the diagnosing of Aicardi Syndrome needs to be done . This is done in the configuration of :
How is Aicardi Syndrome Treated?
As of now , there is no cure for Aicardi Syndrome . The treatment is fundamentally symptomatic and supportive . The first and the first method acting of intervention is to moderate the seizure caused due to Aicardi Syndrome . This is done by apply antiepileptics . Children with noetic disabilities may be send to special didactics so that they can be trained to do certain basic activities to make them somewhat independent . The tyke may also be assess by a brain doctor along with speech therapy and occupational therapy to make them as independent as possible .
What is the Life Expectancy for Aicardi Syndrome?
Coming to life anticipation from Aicardi Syndrome , children with this upset run to have a short living bridge but again this bet on the grimness of the disease and how much the child is affected by the symptoms .
Almost all nestling with Aicardi Syndrome will have some type of intellectual handicap . In some cases , a few percent of children learn to mouth in few sentence and walk severally but in absolute majority of typesetter’s case the shaver will require support for the whole life to persuade out activities due to Aicardi Syndrome .
