Angelman syndrome occurs in approximately one in 15,000 live births. This rare disorder is classified as both a neurological and a genetic disorder. This complex condition mostly affects the patient’s nervous system and causes an array of symptoms. Between six to 12 months old, the developmental delays usually start to become noticeable. Those with this condition often laugh and smile frequently and have excitable and happy personalities.
On chromosome 15, there is a specific gene that when defective leads to Angelman syndrome. The gene is called the UBE3A gene, or ubiquitin protein ligase E3A. People get pairs of genes from both of their parents. This includes a paternal one from the father and a maternal one from the mother. Under normal circumstances, the cells use information from both maternal and paternal copies. However, for a few genes, there is only a single active copy.
In the brain, the UBE3A maternal copy of this gene is active. In most people with this syndrome, the maternal copy of this gene is either damaged or missing. However, there are a few cases where instead of getting a copy of this gene from each parent, the person inherits two paternal copies of it, resulting in Angelman syndrome.
Researchers do not yet know why the genetic changes happen that cause this condition. In most cases, those with this syndrome do not have a family history of it. However, if someone does have a family history of this disorder, researchers believe that any children that they have are at an increased risk of developing it.
1. Speech Delay
Significant communication difficulties and developmental delays are possible with this condition. In terms of speech delay, some children may not speak at all, while others will say limited words. In most cases, patients will only be able to say a few words. Children may have difficulty both expressing their thoughts and understanding what is being communicated to them. They might only be able to communicate by using facial expressions. While expressive language is typically impaired among those with this disorder, their receptive language might be more advanced. The issues with speech and communication might play into the child experiencing learning difficulties.
When patients with Angelman syndrome are experiencing speech difficulties, there are possible interventions that could potentially aid them in communicating more clearly. It is generally recommended that parents take advantage of early intervention and get started with these methods as soon as possible with their child. Due to the significant limitations in verbal speech, interventions generally focus on alternative and augmentative communication. Children utilizing this type of therapy may learn to communicate more effectively using aided communication, such as voice output communication aids or picture communication symbols. They might also learn unaided communication forms, such as gestures, eye gaze, manual signs and finger spelling.
