A strange neurological disorder that appears in boys and girls and can be confused with autism.
Angelman syndrome is a genetic neurological disorder 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.
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. First, this neurological disorder was called “Happy Doll Syndrome”, because the symptoms that these children develop is characterized by excessive laughter and a strange gait, with their arms raised.
However, the inability to develop language or mobility correctly are serious problems that individuals with Angelman syndrome develop, which was not named that way until 1982, when William and Jaime Frías first coined the term.
Early development of this condition
Symptoms of Angelman syndrome are not usually evident at birth, and although infants generally begin to show signs of developmental delay around 6-12 months, it is 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 without support or do not babble, but later, as they grow older, they may not speak at all or only be able to say a few words.
Now, most children with Angelman syndrome are able to communicate through 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 trouble walking due to 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 laughs and smiles, 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 prominent tongue and sparse teeth, and microcephaly.
- Children with Angelman syndrome can 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).
- Walk with your 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 usually remit or even stop, and hyperactivity and insomnia increase. The aforementioned facial aspects remain recognizable but many of these adults have a marked 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. Their 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 happen mainly for two reasons. 70% of patients suffer 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 in the UBE3A gene. This gene is involved in the encryption of the GABA receptor subunits, causing alterations in the brain’s inhibitory system.
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.
Angelman syndrome can also be confused with Rett syndrome, Lennox-Gastaut syndrome, and non-specific cerebral palsy. Diagnosis includes checking the clinical and neuropsychological characteristics, and DNA tests are almost essential.
The clinical and neuropsychological evaluation 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, praxis and gnosia and vestibular function, related to balance and spatial function.
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, so it is vitally important to provide individualized support. In this process, a multidisciplinary team takes part in which psychologists, physiotherapists, pediatricians, occupational therapists and speech therapists participate.
Treatment begins when patients are young and may include:
- Behavior therapy can be used to overcome problem behaviors, hyperactivity, or short attention spans.
- Speech therapists may be needed to help them develop non-verbal language skills, such as sign language and the use of visual aids.
- Physical therapy can help improve posture, balance, and the ability to walk.
When it comes to better regulating movements, activities such as swimming, horse riding, and music therapy have shown benefits. In some cases, a brace or surgery on the spine may be required to prevent the spine from curving further.