Angelman syndrome: causes, symptoms and treatment

Angelman syndrome is a neurological disorder of genetic origin that affects the nervous system and causes severe physical and intellectual disability. 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 we will delve into its characteristics, its causes and its treatment.

• Related article: "The 10 most common neurological disorders"

Features of Angelman syndrome

It was Harry Angelman in 1965, a British pediatrician, who described this syndrome for the first time, since he observed several cases of children with unique characteristics. First, this neurological disorder It was called "Happy Doll Syndrome"., because the symptoms that these children develop are characterized by excessive laughter and a strange gait, with their arms raised.

However, the inability to develop language or mobility correctly they are serious problems that develop in individuals with Angelman syndrome, which was not called that until 1982, when William and Jaime Frías first coined the term.

Early development of this condition

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

However, most children with Angelman syndrome are able to communicate using gestures, signs or other systems with the correct treatment.

Your symptoms in childhood

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

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

• Frequent laughter and smiling, often with little encouragement. Also an easy arousal.
• hyperactivity and restlessness
• Short attention span.
• Trouble sleeping and needing more sleep than other children.
• A particular fascination for water.
• Around two years of age, sunken eyes, a wide mouth with a protruding 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-colored hair and eyes in some cases.
• A side-to-side curvature of the spine (scoliosis).
• Walking with arms in the air.
• Some young babies with Angelman syndrome may have trouble feeding because they are unable to coordinate sucking and swallowing.

Symptoms in adulthood

With adulthood, the symptoms are similar; however, seizures often subside or even cease, and hyperactivity and insomnia they increase. The aforementioned facial features remain recognizable but many of these adults have a remarkably youthful appearance for their age.

Puberty and menstruation appear at a normal age and sexual development is complete. Most adults are able to eat normally with a fork and spoon. Your life expectancy does not decrease, although women with this syndrome are prone to obesity.

Genetic alteration as a cause

Angelman syndrome is a genetic disorder caused by the lack of the UBE3A gene on chromosome 15q. This can occur 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 uniparental disomy, due to inheriting 2 chromosomes 15 from the father, which cause UBE3A gene mutations. This gene is involved in the encryption of the GABA receptor subunits, causing alterations in the inhibitory system of the brain.

• You can learn more about this neurotransmitter in this article: “GABA (neurotransmitter): what it is and what role it plays in the brain”

Diagnosis of the syndrome

It is necessary to be careful with the diagnosis of this syndrome that can be confused with the autism due to the similarity of symptoms. However, a child with Angelman syndrome is highly sociable, unlike a child with autism.

Angelman syndrome can also be confused with Rett syndrome, Lennox-Gastaut syndrome, and nonspecific cerebral palsy. Diagnosis includes checking the clinical and neuropsychological characteristics, and DNA testing is almost essential.

Clinical and neuropsychological evaluation It is characterized by the exploration of functional areas of the affected people: motor tone, motor inhibition, attention, reflexes, memory and thinking. learning, language and motor skills, as well as executive functions, praxias and gnosias and vestibular function, related to balance and function space.

multidisciplinary intervention

Angelman syndrome cannot be cured, but it is possible to intervene and treat the patient so that she can improve her quality of life and promote their development, so it is vitally important to provide them with individualized support. A multidisciplinary team involves psychologists, physiotherapists, paediatricians, occupational therapists and speech therapists in this process.

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

• behavior therapy It can be used to overcome problem behaviors, hyperactivity, or short attention span.
• Speech therapists may be needed to help them develop non-verbal language skillssuch as sign language and the use of visual aids.
• Physical therapy can help improve posture, balance and walking ability.

When it comes to better regulating movements, activities such as swimming, horse riding and music therapy have shown their benefits. In some cases, a brace or surgery on the spine may be required to prevent it from curling further.