Angelman syndrome: causes, symptoms and treatment

A rare neurological disorder that appears in both boys and girls and can be confused with autism.

Angelman syndrome is a neurological disorder of genetic origin that affects the nervous system 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 delve into its characteristics, causes and treatment.

Characteristics of Angelman syndrome

It was Harry Angelman in 1965, a British pediatrician, who described this syndrome for the first time, as he observed several cases of children with unique characteristics. This neurological disorder was first was given the name "Happy Doll Syndrome".The symptomatology developed by these children is characterized by excessive laughter and a strange gait, with arms raised in the air.

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

Early development of this condition

Symptoms of Angelman syndrome are usually not evident at birth, and although toddlers generally begin to show signs of developmental delay around 6-12 mo, it is not diagnosed until 2-5 years of ageWhen the characteristics of Angelman syndrome become more evident. At very young 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 through gestures. are able to communicate through gesturessigns or other systems with the right treatment.

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. Their arms may tremble or twitch, and their legs may be stiffer than normal.

A number of distinctive behaviors are associated with Angelman syndrome. At early ages, these children exhibit:

• Frequent laughing and smiling, often with little stimulation. Also an easy excitement.
• Hyperactivity and restlessness.
• Short attentional span.
• Trouble sleeping and needing more sleep than other children.
• A particular fascination with water.
• Around two years of age, sunken eyes, wide mouth with prominent tongue and scattered teeth, and microcephaly.
• Children with Angelman syndrome may also begin to have 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 infants 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, However, the seizures usually subside or even cease.Hyperactivity and insomnia increase. The above facial features remain recognizable but many of these adults have a markedly 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 fork and spoon. Their life expectancy does not decreasealthough women with this syndrome have a tendency to obesity.

Genetic alteration as a cause

Angelman syndrome is a genetic disorder caused by the lack of the UBE gene. caused by the lack of the UBE3A gene on chromosome 15q. This can occur mainly for two reasons. Seventy percent 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 inheritance of 2 chromosomes 15 from the father, which cause mutations of the UBE3A gene. This gene is involved in the coding of 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 autism due to the similarity of symptoms. However, a child with Angelman syndrome is highly sociable, unlike a child with autism. 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 ascertainment of clinical and neuropsychological features, and DNA testing is almost indispensable.

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

Multidisciplinary intervention

Angelman syndrome cannot be cured, but it is possible to intervene and treat the patient so that he/she can and treat the patient to improve his or her quality of life and promote development. It is therefore of vital importance to provide them with individualized support. This process involves a multidisciplinary team that includes psychologists, physiotherapists, pediatricians, occupational therapists and speech therapists.

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

• Behavioral therapy can be used to overcome problem behaviors, hyperactivity or short attentional span.
• Speech-language pathologists may be needed to help them develop nonverbal language skills, such as sign language and the use of visual aids.such as sign language and the use of visual aids.
• Physical therapy can help improve posture, balance and walking ability.balance and walking ability.

When it comes to better regulating movement, activities such as swimming, horseback riding and music therapy have shown benefits. In some cases, a brace or spinal surgery may be required to prevent the spine from may be required to prevent further curvature of the spine.