Angelman syndrome: causes, symptoms and treatment

Angelman syndrome is a neurological disorder of genetic origin that affects the nervous system and leads to severe physical and intellectual impairment. People who suffer from it can have a normal life expectancy; however, they need special care.

In this article, we will talk about this syndrome and explore its features, causes and treatment.

    Features of Angelman syndrome

    It was Harry Angelman in 1965, a British pediatrician, who first described this syndrome, observing several cases of children with unique characteristics. First of all, this neurological disorder receive the name “Happy Doll Syndrome”, Because the symptoms that these children develop are characterized by excessive laughter and strange walking with the arms raised.

    However, the inability to properly develop language or mobility These are serious problems that develop people with Angelman syndrome, which was not called that until 1982, when William and Jaime Fredes first coined the term.

    Early development of this condition

    Symptoms of Angelman syndrome are usually not evident at birth, and although the little ones usually start showing signs of developmental delay around 6-12 months, not diagnosed until 2 to 5 years of age, When the characteristics of this syndrome become more evident. At a very young age, children may be unable to sit up without support or not babble, but later, as they get older, they may not speak at all or be able to say only a few words.

    However, most children with Angelman syndrome they are able to communicate by gestures, Signs or other systems with the appropriate treatment.

    Its symptoms in childhood

    The mobility of a child with Angelman syndrome will also be affected. They may have difficulty walking due to balance and coordination problems. Your arms may shake or move suddenly, and your legs may be stiffer than normal.

    A series of distinctive behaviors are associated with Angelman syndrome. At an early age, these children have:

    • Frequent laughs and smiles, often not very stimulating. Also easy excitement.
    • Hyperactivity and restlessness.
    • Limited attention span.
    • Sleep problems and need more sleep than other children.
    • A particular fascination with water.
    • Around the age of two, sunken eyes, wide mouth with a prominent tongue and scattered teeth, and microcephaly.
    • Children with Angelman syndrome may also start having seizures around this age.

    Other possible features of the syndrome include:

    • Tendency to stick out the tongue.
    • Crossed eyes (strabismus).
    • Pale skin and light hair and eyes in some cases.
    • A curvature from one side of the spine to the other (scoliosis).
    • Walk with your arms in the air.
    • Some young babies with Angelman syndrome may have difficulty feeding because they are unable to coordinate sucking and swallowing.

    Symptoms in adulthood

    In adulthood, the symptoms are similar; But, seizures usually go away and even stop, And hyperactivity and insomnia increase. The facial features mentioned above remain recognizable, but many of these adults have a marked youthful appearance due to their age.

    Puberty and menstruation appear at a normal age, and sexual development is complete. Most adults can eat normally with a fork and a spoon. Their life expectancy does not decrease, Although women with this syndrome tend to be obese.

    Genetic alteration as the cause

    Angelman syndrome is a genetic disease caused by the absence of the UBE3A gene on chromosome 15q. This can happen mainly for two reasons. 70% of patients suffer from a chromosomal alteration of 15q11-13 due to maternal inheritance, which is also responsible for a worse prognosis.

    Other times it is possible to find a heterodisomy, to inherit 2 chromosomes from the parent, which cause mutations in the UBE3A gene. This gene is involved in the encryption of GABA receptor subunits, causing alterations in the inhibitory system of the brain.

    • You can read more about this neurotransmitter in this article: “GABA (neurotransmitter): what is it and what function it performs in the brain”

    Syndrome diagnosis

    Care should be taken with the diagnosis of this syndrome which can be mistaken for autism due to the similarity of symptoms. However, a child with Angelman syndrome he is very sociable, unlike an autistic child.

    He may also confuse Angelman syndrome with Rett syndrome, Lennox-Gastaut syndrome, and nonspecific cerebral palsy. Diagnosis includes checking for clinical and neuropsychological features, and DNA testing is almost essential.

    Clinical and neuropsychological assessment is characterized by the exploration of the functional areas of those affected: motor tone, motor inhibition, attention, reflexes, memory and learning, language and motor skills, as well as executive functions, praxis and gnosis and vestibular function, related to balance and function space.

    multidisciplinary intervention

    Angelman syndrome is not curable, but it is possible to intervene and treat the patient so that he can improve his quality of life and promote their development, it is therefore essential to provide them with individualized support. A multidisciplinary team made up of psychologists, physiotherapists, pediatricians, occupational therapists and speech therapists is involved in this process.

    Treatment begins when patients are a few years old and may include:

    • Behavior therapy it can be used to overcome problematic behavior, hyperactivity or short attention span.
    • Speech therapists may be needed to help them develop non-verbal language skills, Such as sign language and the use of visual aids.
    • Physiotherapy can help improve posture, Balance and ability to walk.

    To better regulate movements, activities such as swimming, horse riding and music therapy have shown their benefits. In some cases, braces or spinal surgery it may be necessary to prevent it from bending further.

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