Angelman syndrome is a neurological disorder of genetic origin that affects the nervous system and causes serious 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, its causes and its treatment.
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. Firstly, this neurological disorder It was called “Happy Doll Syndrome.” because the symptoms that these children develop are characterized by excessive laughter and a strange walk, with their arms raised.
However, the inability to develop language or mobility properly They are serious problems that individuals with Angelman syndrome develop, which was not called that until 1982, when William and Jaime FrÃas first coined the term.
Early development of this condition
The symptoms of Angelman syndrome are not usually evident at birth, and although children generally 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 young ages children may be unable to sit up without support or may not babble, but later, as they grow, they may not speak at all or only be able to say a few words.
Now, most children with Angelman syndrome They 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 due to balance and coordination problems. Your arms may shake or move jerkily, and your legs may be stiffer than normal.
A series of distinctive behaviors They are associated with Angelman syndrome. At an early age, these children present:
Other possible features of the syndrome include :
Symptoms in adulthood
With adulthood, the symptoms are similar; however, seizures usually subside or even stop and hyperactivity and insomnia increase. The aforementioned facial features remain recognizable but many of these adults have a remarkable 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 have a tendency 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 mutations of the UBE3A gene. This gene is involved in the encryption of the GABA receptor subunits, causing alterations in the brain’s inhibitory system.
It is necessary to be careful with the diagnosis of this syndrome, which 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.
Angelman syndrome can also be confused with Rett syndrome, Lennox-Gastaut syndrome, and non-specific cerebral palsy. Diagnosis includes verification of 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 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 they can improve their quality of life and promote their development, which is why it is vitally important to provide them with individualized support. A multidisciplinary team involving psychologists, physiotherapists, paediatricians, occupational therapists and speech therapists takes part in this process.
Treatment begins when patients are a few years old, and may include:
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 spinal surgery may be required to prevent it from bowing further.
