Research Paper on Angelman Syndrome

Angelman syndrome is a genetic abnormality. It is characterized by mental retardation, sleep disturbance, seizures, chaotic motoric agitation (especially hands), frequent laughter or smiling.

The syndrome is named after the British pediatrician Harry Angelman, who first described it in 1965.

Angelman syndrome implies missing of some of the genes on chromosome 15 (in most cases – partial deletion or mutation of the other 15th chromosome). In Angelman syndrome, the maternal chromosome is damaged, damaging the paternal leads to Prader-Willi syndrome.

According to the results of several independent studies, the cause of Angelman syndrome may be a mutation in the gene UBE3A. Gene product is an enzyme component of a complex system of the proteins degradation.

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Frequency of occurrence, according to various sources, is 1:10 000-20 000 of live births. However, according to the Center for Human Development and deviations in development (Washington University, USA), we can assume that the proportion of people with Angelman syndrome is actually a lot larger than shown in the statistics.

The syndrome is diagnosed by genetic analysis (15 chromosomes), which is recommended for infants with low muscle tone (hypotonicity), developmental delays in gross motor and speech development. Parents and doctors need to pay attention to the cases of small tremors, random, jerky movements of the limbs, gait with stiff legs and in some cases a specific facial expression, too frequent laughter.

Dr. Charles Williams (Gainesville, Florida), working mainly with autistic children, indicates common behaviors for autistic children and children with Angelman syndrome: remarkable autostimulation, impulsiveness, obsessive, repetitive movements, interest to inappropriate subjects, as well as difficulty in communicating with other people.

Possible methods of analysis: the process of fluorescent hybridization in situ, DNA methylation in 15q11-q13, imprinting center mutation analysis, UBE3A gene mutation direct analysis.
There is a small group of people who have the normal results of all the above tests, but they have all symptoms Angelman syndrome.

Angelman syndrome is a congenital genetic abnormality, by this moment, specific methods for its treatment have not been developed. However, some medical assistance improve the quality of life of people with the syndrome. In particular, infants with hypotonicity should receive massage and other special therapy (physiotherapy). The use of special techniques of child development sessions with a speech therapist and defectologist is recommended.

Sleep disorders are corrected by appointing small dose of hypnotics. Dr. Wagstaff (USA) believes that the appointment of 0.3 mg of melatonin for 30 minutes to 1 hour before bedtime improves sleep in patients with Angelman syndrome.

Seizures are treated in the same manner as epilepsy. Children with Angelman syndrome often have more than one type of seizure. Electroencephalography is recommended.

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