Genetic diseases

Angelman Syndrome

Angelman Syndrome

Angelman syndrome photo Angelman Syndrome - a disease that refers to a genetic anomaly characterized by mental retardation and is accompanied by seizures, chaotic movements of hands, frequent laughter and smiles.The disease is also called syndrome "parsley" or "laughing doll."

scientific name Angelman Syndrome was named after the British pediatrician Harry Angelman out.This disease was first described in 1965.According to various sources the frequency of occurrence - one case in ten or twenty thousand babies.However, there is evidence that it underestimated the numbers of people born and more.

Angelman Syndrome causes

In this disease there are no individual genes on chromosome 15.Most cases are characterized by partial deletion or mutation of 15th chromosome.When a parent suffers from Angelman syndrome chromosome, and in the case of changes in the paternal chromosome develop Prader - Willi.Often the syndrome is provoked by spontaneous chromosomal defect which is characterized by the absence o

f an adjacent region composed of four million base pairs of DNA in the field q11- q13 of chromosome 15.

Angelman Syndrome is karyotype 46 XX or XY, 15P.Independent studies the causes Angelman syndrome carry mutations in the gene UBE3A.The enzyme component of a complex system of protein degradation is considered the product of this gene.

Angelman Syndrome symptoms

disease is recognizable by the following characteristics: less than the average size of the head, widely spaced teeth, flattening of the back of the head, wide mouth, protruding tongue, jutting chin.Patients suffer from sleep disorders, strabismus, curvature of the spine, are sensitive to high temperatures.People with Angelman syndrome feel great in the water.

Angelman syndrome and its symptoms: problems with breastfeeding, low weight infants, a delay in the development of general motor skills (difficulty in walking, sitting);undeveloped speech, speech delay.For children tend to a good understanding of speech, but there are problems with the playback of your thoughts.Kids difficult to focus, to attract attention due to hyperactivity.

Students experiencing learning difficulties.In 80% of cases occur in patients with seizures, as well as changes and irregularities in electroencephalography.For all patients are characterized by unusual movements as small tremors and chaotic movements of limbs.A distinctive feature of patients with Angelman syndrome is a frequent laughter for no reason, and walking stiffly.Children with the disease compared with the puppets.

for all patients is still characterized by symptoms such as a happy state, easily excitable, a desire to clap, low concentration.Often subjected to ill hypopigmentation, excessive salivation, enhanced chewing movements, hyperactive tendon reflexes and constant desire to drink.It is noteworthy that convulsive seizures do not cover all patients, but only 80% of patients, from the age of three.

Angelman Syndrome photo

photo of a child with Angelman syndrome

Angelman Syndrome diagnosis

This disease is diagnosed after genetic analysis fifteenth chromosome.Diagnosis of neonates with hypotonicity (low muscle tone), and the lag in the development of speech, as well as total motility.Parents should pay attention to the specific expression, fine tremor, chaotic and jerky movements of the limbs, stiff legs during gait and often laughter.

Analysis methods include fluorescent hybridization in situ, DNA methylation field 15q11- q13, and an analysis of direct mutations in the gene UBE3A and mutation analysis imprinted center.

There is a separate group of people, which has all the features of Angelman syndrome, but the results of the above tests are normal.

Angelman Syndrome treatment

Currently not fully developed methods of treating the disease, but there are some remedial measures aimed at improving the quality of life of patients.

baby with hypotonicity appointed massage, as well as other types of physical therapy (special treatment).Showing special methods of child development, as well as sessions with a speech therapist and defectology.When sleep disorders are assigned light sleeping.American doctors to improve the quality of nighttime sleep prescribe to their patients to sleep for half an hour 0.3 mg of melatonin.

defecation disorders in patients decided the appointment of laxatives.With frequent attacks shown holding electroencephalography and epilepsy in patients with controlled anticonvulsant drugs.

American doctors have noticed a lot of similarities with children suffering from autism, and began to treat children at the treatment of autism.Children with these diseases combines impulsivity, autostimulyatsiya, repetitive, compulsive movements, difficulty in communication, interest in things inappropriate for their age.A good result was obtained by US physicians in the treatment of intravenous injections of the hormone secretin, which reduces symptoms of unwanted behavior, as well as provide a good level of communication skills and sociability.Perhaps in time the world will start to use as medicine in the treatment of secretin.

Angelman Syndrome forecast

high probability at birth of the second child of parents with the disease.In order to reduce the risk of such a baby need to consult a geneticist.Doctors believe that the usual deletion occurs spontaneously and the risk of repetition of less than 1%.When the mother of molecular microdeletion in 15q11-q13 risk up to 50%.If a mutation within the gene UBE3A become random or inherited, in this case, the risk is less than 1% of the repeat.However, be aware that these mutations can be inherited from the normal and the mother, and this risk is 50%.But parthenogenetic disomy 15th pair acts as a random situation and the risk of repetition is less than 1%.Basically, risk repeating the parents to have a child with Angelman syndrome depends on chromosomal abnormalities.

Angelman Syndrome and favorable prospects for further development.Sick children are able to understand all the information and we are facing them, but they were hard to express their thoughts in words.Despite this, patients with Angelman syndrome are very sociable, nice and friendly.In some cases, we do not have kids or a vocabulary of up to 5-10 words.In such cases, children are taught sign language.Activities with kids from an early age are conducted according to special programs that improve motor development and often give good results.

Therefore, prospects for development with Angelman syndrome is directly dependent only on the extent of the chromosome.Often, people with Angelman syndrome can learn the skills of self-service, and to communicate on a primitive level.But some people still can not talk, walk.This is due to deletion of a portion of a chromosome.

Over time, the symptoms of hyperactivity and sleep disorders slightly softened.Girls Angelman syndrome in adolescence is dangerous frequent seizures.Most patients with Angelman syndrome control excretory functions, including urination and defecation, both day and night.

People with Angelman syndrome can learn etiquette and there with a knife and fork, are able to serve themselves (dress, undress).However, adulthood is complicated scoliosis, obesity.Puberty for girls and boys comes at the usual time.There are cases of birth in the mother suffering from Angelman syndrome child with the same diagnosis.

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