Angelman syndrome is a very rarefied genetic disorderliness that feign the neurological system of rules . It is a inborn disorder that occurs in one birth among 15000 live giving birth . Being a very rare condition and due to lack of awareness , it is often misdiagnosed as other circumstance such asautismandcerebral paralysis . It is characterized by delay in development , speech issues , unsteady proportionality and gait , episodes of seizures etc . A all-embracing range of written report are go on to understand and research more on Angelman syndrome .
Angelman syndrome is not detected at nascency . The symptoms of Angelman Syndrome are noticed when the nipper reaches 6 to 12 months . At first developmental delays are mark . After a few long time when the child is about 2 – 3 year honest-to-god , seizure are noted . The patient affected by Angelman syndrome , often have a normal life span ; however , it is a sprightliness - long disorder and need life history - recollective precaution . Over a period of time they become slow and evolve sleep egress .
Symptoms of Angelman Syndrome
The most common symptoms of Angelman syndrome are as follows :
Most of the above mentioned symptom of Angelman syndrome are noticed at around the years of 6 to 12 months . There are some other symptoms which are noted after a few years , between 2 to 3 year of eld . These unremarkably include :
Causes of Angelman Syndrome
Angelman syndrome is a genetic disorder because of a blemish in ubiquitin protein ligase E3A gene ( UBE3A ) or the chromosome 15 gene . Under normal scenario , factor are inherit from the parents in a pair , with one copy from the mother and one copy from the father . In genes like UBE3A only the enate side is active . However , in angelman syndrome , the paternal copy of the gene is defective or missing . In some caseful of angelman syndrome , both the copies of this cistron , is inherited from the father .
Risk Factors of Angelman Syndrome
Being a very rare syndrome , not much is known about the potential risk factors of Angelman syndrome . A large number of studies are going on to con more about Angelman syndrome . In some cases , it has been seen that there is a family chronicle colligate with the syndrome .
Complications of Angelman Syndrome
Angelman syndrome has a number of complications link with it which include :
Diagnosis of Angelman Syndrome
Angelman syndrome is diagnosed by the child ’s paediatrician or a neurologist free-base on the signs and symptom demonstrated by the tike . A elaborate pillow slip history is obtained and the minor is notice for symptoms such as behavioral payoff etc . Comprehensive blood testing and detailed genetic work are done for confirming the diagnosis . Genetic mental test that are done include the following :
Treatment & Management of Angelman Syndrome
Angelman syndrome as such does not have a definite discussion . At present the treatment sensory system is focused on management of the associated medical and developmental issues . base on the extent of the shape and the historic period of the patient , the following treatment plan may be conceive :
Prevention of Angelman Syndrome
A link has been notice between sept history and relative incidence of angelman syndrome . If there is a known house chronicle of angelman syndrome or if one child has angelman syndrome then before planning any future pregnancies one must consult a doctor . It is recommend to consult a genetic counsellor before design for a pregnancy in case of have intercourse history of any genetic diseases to forefend complications .
Angelman syndrome is a very rarified complex transmissible disease triggered by mar or mutation in the UBE3A cistron or chromosome 15 genes . This condition usually goes undiagnosed at birth . The symptom originate to come on at age of 6 to 12 months as developmental wait , speech disability , learn disabilities , difficulty with social movement and unsteady Libra the Scales and pace . Quite often the term is flurry with autism and other inborn issues due to lack of information and medically relevant datum and hence one must look up an experient medico for the diagnosis . Individuals with Angelman syndrome are often very well-chosen , hyper mad children , characterized by short tending duo and frequent laughing and smiling . The condition is usually diagnosed once the patient start up showing mark and symptoms of Angelman syndrome . A series of blood work and transmitted test are done to arrive at the final diagnosis . There is no definite treatment mode to bring around the consideration . A great issue of enquiry and field of study are being carried out to understand this stipulation better and more accurately .
