What is Angelman syndrome(AS) /Happy Puppet Syndrome ? A Concise Overview.,

Book excerpt: What is Angelman syndrome(AS) /Happy Puppet Syndrome ? A Concise Overview. Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide. It is named after British pediatrician Harry Angelman, who first described the syndrome in 1965. An older term, "Happy Puppet Syndrome", is generally considered pejorative. It is caused by a loss of function of the UBE3A gene in the 15th chromosome derived from the mother. Angelman syndrome shares symptoms and characteristics with other disorders including autism, cerebral palsy etc. Due to the common characteristics, misdiagnosis occurs often. People with AS have developmental problems that become noticeable by the age of 6 – 12 months. Other common signs and symptoms usually appear in early childhood like walking and balance disorders, gastrointestinal issues, seizures and little to no speech. Despite these symptoms, people with Angelman syndrome have an overall happy and excitable demeanor. An individual with AS will light up a room with their smile and laughter. An attempt has been made in this Booklet to describe Etiology, History, Diagnosis, Differential Diagnosis, Management , Chromosome 15q deletion, etc. comprehensively along with plenty of relevant ILLUSTRATIONS and IMAGE GALLERY for better understanding this quaint but interesting Genetic entity. …Dr. H. K. Saboowala. M.B.(Bom) .M.R.S.H.(London)