What is Smith Magenis Syndrome?
Smith - Magenis Syndrome is a type of a complicated developmental upset which be given to affect multiple electric organ system of the body . It is characterized by abnormalities that may be present at the time of giving birth in addition to growth and developmental delays along with behavioral and cognitive problems .
child with Smith - Magenis Syndrome will also have distinct facial feature and musculoskeletal abnormalities . Children with Smith - Magenis Syndrome will also show noetic disablement with delay in attaining motor accomplishment .
They also tend to have problems with speech , and the most disturbing of all a ego injurious behavior which may be potentially very dangerous and hence children require constant monitoring when they are conduct with Smith - Magenis Syndrome . The symptoms are quite varying and take issue from individual to mortal . The main lawsuit of Smith - Magenis Syndrome is mutation of the RAI1 cistron .
What are the Causes of Smith Magenis Syndrome?
As stated , the main cause of Smith - Magenis Syndrome is a leave out short arm of chromosome 17 . This institute for about 90 % of the cases of Smith - Magenis Syndrome . This lacking part of the chromosome carry the RAI1 gene which is responsible for growth and growing of an individual . The main intellect for the chromosome that is missing or deleted is not yet known but in maximal eccentric this is unwritten and is not related to any other grounds . This missing brusk head of chromosome 12 and the subsequent mutation of the RAI1 gene is the main cause of Smith - Magenis Syndrome .
What are the Symptoms of Smith Magenis Syndrome?
The master symptoms of Smith - Magenis Syndrome are clear-cut facial features , sure skeletal deformity , variable intellectual handicap , delay in speech and attain motor acquirement , unfitness to kip adequately , trend towards self damage and other attending seeking behaviors .
It is not necessary that all the above symptoms will be present in every someone with Smith - Magenis Syndrome . The symptom are highly variable where in some cases very mild symptoms may be present whereas in austere cases most of the symptoms may be present . The symptoms may even vary from case-by-case to individual of the same family affect with Smith - Magenis Syndrome .
How is Smith Magenis Syndrome Diagnosed?
The characteristic symptom and the physical feature that the patient present with is a virtual give way of life of a genetic condition at shimmer here . This is further confirmed by take a elaborated history of the patient to decide if any other family member has the same symptom .
A elaborate clinical evaluation may also be perform to look at the various strong-arm defects that the affected role may be having because of Smith - Magenis Syndrome .
In order of magnitude to corroborate the diagnosis , certain specialized test may have to be carry . These specialised trial will let in an enzyme assay in which there will be unclouded reading of mutation of RAI1 gene confirming the diagnosis of Smith - Magenis Syndrome .
to boot , a transmitted written report will also be done which will also show missing or deleted short arm of chromosome 17 . Both these findings will confirm the diagnosis of Smith - Magenis Syndrome .
How is Smith Magenis Syndrome Treated?
The treatment for Smith - Magenis Syndrome requires a multidisciplinary elbow grease from a team of specialists which will let in pediatrician , neurologist , oral communication and language medical specialist , shrink and psychologist , who will exercise together and formulate a treatment plan for the patient .
genic counseling may also be of welfare for the patient role and the phratry and will help in the course of handling . Other than supportive and symptomatic , there is no other clear cut treatment for Smith - Magenis Syndrome . Early diagnosing and handling is essential for the youngster to be as independent as potential .
Smith - Magenis Syndrome minor will need particular teaching with manner of speaking and language therapy , physical therapy and occupational therapy for making the child independent . Sensory integration therapy will also be of welfare in children with Smith - Magenis Syndrome to allow them to respond advantageously to stimulus which is highly poor in cases of Smith - Magenis Syndrome .
To treat behavioral and attention seeking job in children with Smith - Magenis Syndrome , medications may be used . For difficulty in feeding , consultation with a GI specializer in coordination with the pediatrician will be of slap-up value in treatment of Smith - Magenis Syndrome . To control capture , again anticonvulsants are usable which will help control seizures in patient role with Smith - Magenis Syndrome .
What is the Prognosis of Smith Magenis Syndrome?
It is very difficult to judge the factual forecast of a condition like Smith - Magenis Syndrome due to the variability of the symptoms and the response of the patient towards treatment which is extremely supportive and symptomatic .
Some individual with this condition have grow up to become gainfully use to some arcdegree and live slightly independently but not amply independent where as some mortal are completely handicapped and demand constant supervision of their parents or nursing care staff as they can not live at home if right keep system is not present at habitation for the great unwashed suffering from Smith - Magenis Syndrome .
