This clause on Epainassist.com has been reviewed by a medical professional , as well as checked for facts , to assure the reader the best potential accuracy .
We follow a strict editorial policy and we have a zero - tolerance policy regarding any story of plagiarism . Our articles are resourced from reputable online page . This clause may contain scientific references . The numbers in the parentheses ( 1 , 2 , 3 ) are clickable radio link to peer - reviewed scientific papers .
The feedback link “ Was this clause Helpful ” on this page can be used to report subject that is not accurate , up - to - day of the month or confutable in any personal manner .
This article does not provide aesculapian advice .
Pendred Syndrome is a genetic condition that can pretend the thyroid gland and get word function in children . This article deals with details of Pendred Syndrome , its effort , symptom and treatment .
What Is Pendred Syndrome?
Pendred Syndrome is a hereditary diseased condition which is triggered by mutation in gene SLC26A4 in chromosome 7 . The chromosomal mutation in this gene causes reform-minded hearing loss in children and affects the thyroid secretor resulting in goiter . In some vitrine Pendred Syndrome also affect the residuum of a child.[1 ]
The symptoms of Pendred Syndrome set forth becoming apparent by the time the baby is about 2 to 3 old age of age . By this time , the child start out to have hear problems which worsens with clock time and advances to get a line personnel casualty . Complete hearing expiration may be of sudden onset although some tiddler may find some of the hearing back . Thehearing lossdue to Pendred Syndrome is always bilateral ( hear loss is affected in both the spike ) although the severity of the hearing loss in both the ears may vary.[2 ]
Researchers believe that about 60 % of cases of bilateral hearing loss are due to familial causal agent and the remaining 40 % due to other causes.[3 ]
A detailed history of the nestling in respect to when the hearing loss started and whether there are any anatomic abnormalcy in the ears can tell a physician whether the child has Pendred Syndrome or the auditory sense loss is being due to some other rootage .
What Causes Pendred Syndrome?
As put forward , the independent cause of Pendred Syndrome is a mutation in gene SLC26A4 in chromosome 7 . This condition is an autosomal recessive trait which means that the child needs to inherit a copy of the defective cistron from each parent to have this condition . duo who feel they are at risk of being carrier of Pendred Syndrome and may conk it on to their children may search genetic counseling to find out whether they abnormalities in this gene .
To know whether a couple is at jeopardy of being a flattop of Pendred Syndrome is throw a fellowship story of hear departure at a young age from either side of the family . While the main causes of Pendred Syndrome are relate to genetic science , there have been instance where a child was diagnose with Pendred Syndrome without any prior family history of this disorder known.[4 ]
What Are The Symptoms Of Pendred Syndrome?
Some of the symptom of Pendred Syndrome are :
How Is Diagnosis of Pendred Syndrome Confirmed?
As soon as a parent recognizes that their child has a job with pick up then the first affair to do is to take the tyke to a skilled otolaryngologist to find about the etiology of the hearing expiration . In the course of finding out an aetiology for the hearing loss of the child , the doctor will take a detailed history of the child . question like when the hearing loss was first watch and whether the hearing loss was progressive or was it of a sudden onslaught are call for . Based on the answers given by the parents , the doctor may front at various pathologies that can do such symptoms as Pendred Syndrome is not the only disease precondition that causes hear release at birthing .
If on exam , the thyroid gland is found to be magnify then this couple on with the hearing loss may betoken towards the possibility of Pendred Syndrome . If this condition is distrust , then more trial will be done to affirm the diagnosis of Pendred Syndrome .
The in force method for corroborate the diagnosis of Pendred Syndrome is anMRIorCT scanof the interior ear to look for characteristic feature of Pendred Syndrome . Normally , a cochlea has about 2.5 turns while in a tiddler with Pendred Syndrome there will be less turns in the cochlea than this . Another important machine characteristic for Pendred Syndrome is an abnormal vestibular aqueduct which is important for symmetricalness and any freakishness in this will have balance problem which is one of the significant symptoms of Pendred Syndrome . If these two abnormalities are positive then a diagnosing of Pendred Syndrome is confirmed.[7 ]
What is the Treatment of Pendred Syndrome?
There is at present no complete intervention of Pendred Syndrome but the symptom that it produces can be treated . Since Pendred Syndrome involves more than one body organization require hence the treatment approach is also multidisciplinary involving ENT , neurologist , endocrinologist , and oral communication therapist .
Hence , the focal point on symptomatic handling of Pendred Syndrome .
get a line exit which is the chief symptoms of Pendred Syndrome can be controlled with hearing aids which may improve hearing to sure extent .
to boot , children with Pendred Syndrome should be instruct polarity language so that they put their though across without any problems .
Another potential treatment for Pendred Syndrome is a cochlear implant . In a cochlear implant , a twist is inserted into the cochlea . While this gadget does not restore normal hearing , it get around the pathological components of the capitulum and sends signals to the encephalon straightaway and bring forth some sense of hearing and hence the child may be able to heart to some extent .
For thyroid gland trouble due to Pendred Syndrome , the child will have to be observe and supervise tight with unconstipated checks of thyroid function and if any abnormalities are find oneself appropriate treatment are given .
The part of a speech therapist is also important in intervention of Pendred Syndrome as they may learn the youngster sign language and other measures to make the shaver as independent as possible.[8 ]
What Is The Prognosis Of Pendred Syndrome?
Pendred Syndrome does not affect the life expectancy of a child in any way , hence the prognosis of Pendred Syndrome is honorable . Children with this experimental condition lead normal lives other than the sense of hearing and balance trouble that can be cope with unlike way of treatment of Pendred Syndrome . Cochlear implant and contract oral communication amend the lineament of life of a nipper importantly despite Pendred Syndrome.[9 ]
References :
