What is the status of an angel syndrome? Don't talk, just laugh.

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What is the status of an angel syndrome? Don't talk, just laugh.

2016-07-21 02:59:47 809 ℃

Children crying too always let the novice parents distress, everyone hope their children well behaved, smile a little more, bad small point. In life there is such a child, they are born to love to smile, pure smile to recruit people like, like a lovely angel. But the smile is not a representative of the heart of happiness and joy. Why is it so?

2 year old boy can not speak will only laugh, the original is suffering from angel syndrome

Primary time, Lele everything looks normal, but slowly performance for growth retardation, 6 months will rise, turn over eight months before and 15 months will sit, 21 months now, but won't climb, station is not and will not go, don't consciously pronunciation. He will not cry will only smile, at the beginning we did not find anomalies. But when the doctor told the mother that his smile was probably not normal, the mother was very angry and felt insulted. In the doctor insisted, Le Le or do the relevant checks, doctors understand the situation, said Le Le may suffer from angel syndrome".

Angel syndrome is the cause of the loss of maternal genetic genes

Angel syndrome (Syndrome Angelman, referred to as AS), also known as the "happy angel syndrome", is not the name of a fairy tale? In fact, its incidence rate is only 1/5 million rare diseases. The prevalence of children do not speak, hands held high, waving, at the foot of the instability, like matchmaking puppet; often laugh, very happy appearance, so the people and the the disease named "happy puppet syndrome". This incurable disease can make every family from heaven to hell.

AS was first discovered by the British scientist Angelman in 1965, so the disease was named after his name, coincidentally, the meaning of the name and the symptoms of the disease is very good performance.

Angleman syndrome is a kind of mental disorder caused by genetic abnormality, which is caused by the loss of large fragment of chromosome, and 90% ~ 85% of cases can be confirmed by genetic method. But the mother and father of the child's own chromosome does not exist abnormal, so the genetic disease is not equal to the family, that is not necessarily hereditary disease in the family must have a person also suffering from the same disease.

How to judge an angel to get an angel?

Fetal intrauterine growth retardation to be vigilant

Nanjing General Hospital of Nanjing Military Region director Cui Yingxia explained, because the angel syndrome is often low weight children, was born in general less than 5 pounds. This gives you a very important clue. That is, pregnant women in pregnancy, if the performance of severe intrauterine growth retardation, so pregnant women should be timely to do check. By gene technology, it is possible to find out if a child is suffering from a genetic disease.

100% children with developmental delay language

Severe developmental delay, movement or balance disorder (ataxia gait, limb tremor), language disorder, special behavior (frequent laughing or smiling, facial expressions of joy, clap, hyperactivity and attention deficit);

More than 80% children will have a seizure

2 years old when access to head, before the age of 3 appear seizures, seizure severity with age decreased but sustainable to adult, 2 age characteristics of abnormal electroencephalogram (EEG), early clinical symptoms appear and is often associated with epileptic seizures no correlation;

80% - 20% children with the following symptoms

A flat pillow, pillow ditch, tongue, sucking or dysphagia, baby feeding difficulties, protruding jaw, mouth and dental dilute, drooling, chewing and oral, strabismus, hypopigmentation, lower extremity hyperreflexia, walking arm lift bending, heat sensitive, sleep disorders, like splashing, abnormal behavior, food obesity (older children), scoliosis, constipation and so on.

There is no effective treatment at present.

No.1 Hospital of Peking University, Yang Zhixian, an assistant professor of Neurology, said the current AS for the cause of the disease is no effective treatment. This disease belongs to chromosomal disease and non progressive encephalopathy, so a certain degree of rehabilitation training is helpful to improve the function of movement, language and so on. AS seizures are mainly seen in childhood, but also sustainable to adults or recurrence in adulthood, should be under the guidance of a doctor taking anti epileptic drugs, control seizures. At the same time, it is worth noting that the tremor, excessive exercise and other acts of AS in children are often misdiagnosed as epilepsy, resulting in excessive treatment.

The second child of gene disease can be prevented? Prenatal diagnosis is of great significance

Because the recurrence risk of maternal reproduction is higher than that of the population, at the same time, fetal material can be diagnosed by chorionic villi sampling, amniotic cavity puncture and umbilical blood vessel puncture. Kuhnert physician is introduced, in order to reduce birth defects in children, for to pass before pregnancy, during pregnancy and neonatal physical and laboratory examinations to achieve the greatest degree of prevention. Specifically including the three level prevention, which is essential to prevent primary and secondary two.

It is understood that the primary prevention for examination of pregnancy or early pregnancy. The two level prevention is to refer to the pregnancy check. Three levels of prevention, the growth and development of newborn health examination.

Also Kuhnert physicians also remind to prepare students for a baby of the couples of child-bearing age, must pay attention to prenatal care, early diagnosis for avoiding fertility comorbidity in children has a guiding role. Through the modern science of screening, I wish everyone can give birth to a healthy baby.

Editor: Dr.K

Reviewer: Health Science Branch

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