Angelman Syndrome is a rare genetic disorder that has a significant impact on the neurological system. The disorder arises as a result of abnormalities or complete deletion of the UBE3A gene. Originally identified by Dr. Harry Angelman, an English physician, this condition was officially named and documented in medical literature in 1965. While the symptoms may not be evident at birth, individuals typically receive a diagnosis between the ages of one and four.
While there is a wide range of symptoms associated with Angelman syndrome, it is important to note that not every individual with this condition will exhibit all of them. The manifestation of symptoms can vary from person to person, leading to a diverse spectrum of symptoms.
Developmental Delays in Angelman Syndrome
Developmental delays are a common characteristic of individuals with Angelman Syndrome. While it is important to remember that each baby develops at their own pace, there are certain delays that are typically observed in people with this condition. For instance, by the age of 12 months, a baby with Angelman Syndrome may not have started crawling or babbling.
In some cases, signs of the movement disorder associated with Angelman Syndrome may be apparent as early as six months of age. Motor milestones, such as walking, may also be delayed, with some individuals not achieving this milestone until they are two or three years old. Additionally, tremors in the legs may be experienced by affected babies.
As individuals with Angelman Syndrome grow older, intellectual disabilities become more evident. They may struggle with severe learning difficulties, making it challenging for them to acquire new skills and knowledge.
Eating and Digestive Challenges in Angelman Syndrome
Individuals with Angelman Syndrome may encounter difficulties with eating and digestion in addition to mobility issues. Infants with the syndrome often struggle with feeding due to a decreased ability to suck. While the symptoms are generally not severe, some babies may exhibit tongue thrusting, where the tongue protrudes through the teeth during swallowing. While this pattern is typical in all infants at birth, it typically disappears around six months of age when solid foods are introduced.
Although feeding problems in Angelman Syndrome are usually mild, both children and adults with the condition may experience constipation or gastroesophageal reflux disorder (GERD). GERD is characterized by the constant backflow of stomach contents into the esophagus, causing irritation and discomfort.