Hyperactivity in Angelman Syndrome
Being a parent or caregiver of a child with Angelman syndrome can pose many challenges. One common behavioral issue that these children may experience is hyperactivity, which can add stress to parents and negatively impact their quality of life.
What is hyperactivity?
Hyperactivity is a term used to refer to the constant motion of the body and often an inability to focus. It is a common behavioral problem in children with Angelman syndrome, and consists of unending movement and activity, switching from one thing to the next.
Infants and toddlers may often place toys and their hands in and out of their mouths. The constant motion can sometimes lead to injuries such as scrapes and bruises.
Older children may exhibit more aggressive behavior such as biting, grabbing, and pinching. Many children with Angelman syndrome also experience attention deficit due to hyperactivity.
These behaviors can lead to stress for parents, especially as the child grows older.
What may be the cause of hyperactivity in Angelman syndrome?
Angelman syndrome is a rare genetic disorder caused by problems in the UBE3A gene that resides on chromosome 15. The maternal and paternal copies of this gene are expressed differently, depending on the type of cell in the body and the developmental phase. The maternal copy of UBE3A is active in many cells of the central nervous system.
If there are mutations in the maternal copy of the UBE3A gene or if both copies of chromosome 15 come from the father — an event called uniparental disomy — then the gene may not be active at all in those cells.
The UBE3A gene contains instructions necessary to make ubiquitin-protein ligase E3A or E6-associated protein (E6-AP). E6-AP plays a role in the ubiquitin-proteasome pathway, which labels proteins for degradation.
The exact mechanism of how alterations in the maternal UBE3A gene lead to the symptoms of Angelman syndrome is complex and not fully understood. However, researchers have discovered a number of problems caused by low levels of E6-AP. For example, low E6-AP levels can affect the growth and development of nerve cells and their ability to remodel connections with each other, in mouse models of Angelman syndrome. These alterations may be the cause of many of the neurobiological and behavioral issues, including hyperactivity, in Angelman syndrome.
How is hyperactivity treated?
Doctors traditionally treat behavioral problems such as hyperactivity in children through behavior modification therapy. This involves teaching children to strengthen positive behaviors and reduce negative ones.
Earlier studies indicated that hyperactivity tends to decrease as patients age but a more recent survey of caregivers of 301 Angelman syndrome patients suggested a trend toward greater hyperactivity as patients got older.
Doctors generally don’t use medications to treat hyperactivity in children but some Angelman syndrome patients may benefit from certain medications. Examples include antidepressants such as amitriptyline, and selective serotonin reuptake inhibitors such as fluoxetine. Methylphenidate (Ritalin) has also had mixed success in treating hyperactivity in children with Angelman syndrome.
Last updated: Oct. 19, 2020
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