Brian Murphy, Ph.D.,  —

Angelman syndrome is a rare genetic disorder that leads to physical and mental impairment. Drooling is a common symptom of Angelman syndrome that may be difficult to deal with, especially in social settings. It can also lead to skin irritation and aspiration where patients accidentally breathe in fluids or…

People with Angelman syndrome can have difficulties eating and drinking, and with nursing for infants with this disease. To ensure they are receiving adequate nutrition, and to protect against complications such as accidentally breathing in (aspirating) food or liquids, doctors may recommend use of a feeding tube. It’s generally noted,…

People with Angelman syndrome may experience gastrointestinal (GI) problems in addition to physical and intellectual symptoms. Here is information about common GI problems in Angelman, how doctors treat them, and what patients and caregivers can do to help ease their symptoms. What is Angelman syndrome? Angelman syndrome…

Angelman syndrome is a complex genetic disorder that, in addition to its frequently reported physical, developmental and nervous system complications, can affect your child’s vision. How does vision work? Sight is a complex sense that involves light passing into and through the eyes before being converted into neural…

On occasion, caregivers of children with Angelman syndrome report a sensitivity to changes in temperature, especially warmer temperatures. Here is information about temperature sensitivity, and why it might be evident in these patients. What is Angelman syndrome? Angelman syndrome is a rare genetic disorder caused by mutations related to…

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…

Very likely, a child with Angelman syndrome will need to undergo a procedure requiring anesthesia at some point. Here are some frequently asked questions about anesthesia, and how it relates to Angelman syndrome and your child. What is anesthesia? Anesthesia is the use of medicines to mitigate pain…

Patients with Angelman syndrome still develop sexually, which raises many important concerns for them and their caregivers as they age. What is Angelman syndrome? Angelman syndrome is a rare genetic disorder caused by issues with the UBE3A gene. The UBE3A resides on chromosome 15 and encodes…

Early diagnosis is imperative to provide patients with necessary treatments and interventions for the best possible outcomes. Newborn screening would allow parents to find out whether their baby has a rare disease such as Angelman syndrome within weeks of birth, instead of having to wait months or years until…

Angelman syndrome cases have been reported in different countries and among people of varying ethnic origins. The majority of cases in North America have been found in people of Caucasian descent. Over the years, there have been varying estimates of Angelman’s prevalence — or how common the disease…