Angelman syndrome is a neurological disorder predominantly caused in children. It was first discovered by Harry Angelman in 1965. This disorder is also popularly known as the happy puppet syndrome. Angelman syndrome is associated with genetics of the affected person and the symptoms that proceed as a result of it are developmental in origin. Children who are affected by this disorder show delayed developmental characteristics and sometimes impaired functionalities associated with it. Although Angelman syndrome is a rare disorder, studies indicate that one among every forty thousand children born is affected by it. The children are normal at birth but exhibit the symptoms of this disorder gradually.
Clinical Manifestations of Angelman syndrome
The clinical manifestations of the Angelman syndrome are associated with the developing stages of the child after birth. The initial sign are seizures indicating the probability of Angelman syndrome. The first appearance of seizures happens around the age of two. The head size is usually below the average. Mental retardation associated with speech difficulty or total speech impairment along with jerky and quick movements are classical symptoms of the Angelman syndrome.
This disorder is also remarkably noticed by visual facial disorientation such as reduced lip size, wide and constant smiling expression and protruding or prominent chin. Children affected by Angelman syndrome have poor motor skills and also face difficulties in sitting, standing and also walking. Apart from these symptoms, children who are affected by this disorder have strong affinity towards water. Behavior abnormalities such as frequent laughter, hyperactive nature and lack of consistent attention are predominant. Anatomical observations for Angelman syndrome include hypopigmentation, wide mouth with distantly spaced teeth and prominent jaw. People suffering from this disorder also experience heat sensitivity and difficulty in swallowing food.
Diagnosis of Angelman syndrome
The initial diagnosis of the Angelman syndrome is difficult because the symptoms begin to surface around the age of three. Many disorders such as autism have cohesive symptoms like the Angelman syndrome and hence careful analysis of the clinical symptoms and genetic parameters are done to avoid misinterpretation. Genetic testing can be done along with the detection of birth defects in the babies by keeping a track of developmental stages and behavioral patterns. Diagnostic genetic tests such as methylation tests are administered to confirm the Angelman syndrome.
Treatment of Angelman syndrome
Angelman therapy management is predominantly done by effective counseling. Top priority is given to patients who are prone to seizures. Clinical management techniques such as speech therapy, physiotherapy and occupational therapy are done to improve the motor skills. Monitoring and treating epileptic attacks and controlling hyperactive behavior are effective methodologies to treat and manage Angelman syndrome. Consistent monitoring of the general motor skills of the child followed by skills such as learning abilities, self-help and communication can aid in the identification of the disorder at an early stage.
Since sleep disturbance is also a common factor in the Angelman syndrome, consistently monitoring the sleep patterns can help evaluate the condition. Use of hypnotics such as benzodiazepines is recommended only for a short duration as they become addictive after a certain stage. Monitoring young children during the onset of puberty is of much significance as it helps in the effective counseling process involving sexual health and other related issues. Other therapies such as reflexology, hydrotherapy and also music help in the healing process.
Bibliography / Reference
Collection of Pages - Last revised Date: February 16, 2019