They always seem to be smiling and energetic.
They are more like a group of angels who have fallen into the mortal world,
Want to warm and heal those you meet with a smile,
However, behind such a bright smile and positive and happy personality,
But it is a cruel disease - Angelman syndrome.
Angelman syndrome (AS)
The name comes from Harry Angelman, the pediatrician who discovered and described it, and it just so happens that the patient's characteristic smile gives it names that are easier to understand and remember: Angelman syndrome, happy puppet syndrome.
What is Angelman syndrome?
Angelman syndrome is a congenital rare disease with an incidence of about 1/24000-1/12000.
Children with Angelman syndrome usually have no abnormalities in the neonatal period, and the first symptoms often begin to appear at about 6 months of age, but typical clinical manifestations usually appear after one year of age. Almost all children with Angelman syndrome present with developmental delay, language impairment, motor or balance impairment (usually gait disturbance and/or limb flutter), and distinctive behaviors including frequent laughter/smile; Obvious happy behavior, excitability, often accompanied by hand tremors and excessive exercise. More than 80% of children with Angelman syndrome will have head circumference developmental delay, seizures, and characteristic abnormal EEG (high-amplitude spike-slow wave, etc.). 20% to 80% of children with Angelman syndrome will present with flat occipital/occipital depression, protruding jaw, wide mouth, sparse teeth, frequent drooling, excessive mouth movements, light skin color and hair color, flexion of arms during exercise, and sleep disturbances.
Causes of Angelman syndrome
Angelman syndrome is caused by abnormal expression or dysfunction of the UBE3A gene (encoding ubiquitin protein ligase E3) in the maternal chromosome 15q11.2-q13 region.
The molecular genetic mechanisms of Angelman syndrome that have been identified include:
(1) Deletion of maternal chromosome 15q11.2-q13 region (containing UBE3A gene).
(2) There is a Uniparental disomy (UPD) in the region of paternal chromosome 15q11.2-q13
(3) Maternal chromosome 15q11.2-q13 imprinting defect (ID)
(4) Pathogenic mutation of maternal UBE3A gene.
Karyotype results in a small number of affected individuals may show chromosomal rearrangements (eg, translocation or inversion).
Genetic counseling for Angelman syndrome
Parents of children with Angelman syndrome have different risks of reproducing Angelman syndrome caused by different genetic mechanisms, so it is necessary to improve the genetic mechanism typing of children with Angelman syndrome and conduct genetic testing on parents to make a reliable risk assessment of recurrence.
We recommend that all families with Angelman syndrome receive professional genetic counseling to help them identify the type of genetic etiology, assess the risk of recurrence, and select appropriate fertility and treatment strategies.
Treatment and rehabilitation of Angelman syndrome
So far, there is no specific treatment for Angelman syndrome, and the main work is the health management of children after diagnosis. At present, active symptomatic and supportive treatment is mainly for clinical manifestations, which can help improve the quality of life of children with Angelman syndrome.