Angelman syndrome is neurological disease that is characterized by seizures, disjointed movement, an intellectual delay and lack of speech. Children with this syndrome usually have a large mouth, tongue and jaw, a small forehead and tend to be blond and blue-eyed.
Angelman syndrome is genetic and related to the absence or mutation in chromosome 15 that is usually inherited from the mother.
There is no cure for Angelman syndrome, however there are treatments available to help reduce symptoms and improve quality of life of those with the disease.
Main symptoms
The most common signs and symptoms of Angelman syndrome are:
- Severe intellectual disability
- Lack of language, with no or reduced use of words;
- Frequent seizures;
- Frequent episodes of laughter;
- Difficulty crawling, sitting and/or walking;
- Inability to coordinate movements, or shaky limb movements;
- Microcephaly;
- Hyperactivity and inattention;
- Sleep disorders;
- Increased sensitivity to heat;
- Attraction and fascination with water;
- Strabismus;
- Jaw and tongue sticking out.
Symptoms of Angelman syndrome can be noticed in the first year of life, as babies with Angelman syndrome will typically present with delayed motor and intellectual development.
In addition, children with Angelman syndrome have typical facial features, such as a large mouth, small forehead, spaced teeth, prominent chin, a thin upper lip and lighter eyes.
Children with this syndrome also tend to laugh spontaneously and wave their hands in moments of excitement.
Confirming a diagnosis
An Angelman syndrome diagnosis is initiated with an assessment of the patient's symptoms. The pediatrician or general practitioner will ask the caregiver about specific symptoms like any suggestions of an intellectual disability, uncoordinated movements, seizures or constantly happy expressions.
The doctor may then order testing, like an EEG to assess brain functioning, and genetic testing to identify any gene mutations.
Treatment options
Treatment for Angelman syndrome consists of a combination of therapies and medications. The doctor may recommend a combination of the following:
- Physiotherapy: This modality promotes joint movement and prevents stiffness, which is a characteristic symptom of the disease;
- Occupational therapy: This modality helps people develop their autonomy in everyday situations, like getting dressed, brushing their teeth and combing their hair;
- Speech therapy: This therapy is very common, as people with Angelman syndrome typically have a speech and communication impairment. It is aimed at helping with language development;
- Hydrotherapy: Activities that take place in water can help to tone the muscles and promote stress management. It can reduce symptoms of hyperactivity, sleep disorders and attention deficits;
- Music therapy: Therapy that uses music as a therapeutic tool can help to reduce anxiety and hyperactivity;
- Hip therapy: This therapy can involve the use of horses to promote improved muscle tone, balance and motor coordination.
Angelman syndrome is a genetic disease that has no cure, but its symptoms can be managed with the therapies above. Some patients may benefit from Ritalin to help reduce agitation.