Reflecting the enormous changes that have taken place in our knowledge and understanding of developmental disorders, this groundbreaking international volume brings this vast and complex field together for the first time. The editors have collected together the world’s leading academic scholars and clinicians, to explore how current research across a range of different disciplines can inform academic knowledge and clinical practice and help to improve the lives of individuals and their families.The SAGE Handbook of Developmental Disorders is a central reference in the field for all academics, researchers, clinicians and advanced students involved in the study of developmental disorders, including those in clinical psychology, child psychiatry, child mental health, child genetics and pediatrics, speech language pathology, and developmental disabilities and special education.
Chapter 7: Angelman Syndrome
Angelman syndrome is a neurogenetic condition clinically characterized by a constellation of features that comprise a specific behavioural phenotype (Table 7.1). This behavioural uniqueness includes prominent smiling laughter, marked hyperactivity, an unusual communication pattern with absent speech contrasting with eagerness for social interaction, mouthing of objects and motor stereotypes. It is caused by lack of the product of a gene that is normally expressed in the brain from the chromosome 15 inherited from the mother. Given its multifaceted implications, which range from molecular biology to developmental neuropsychology, it has been argued that Angelman syndrome can serve as a disease model, opening broad questioning of genetic and epigenetic influences in neurology, as well as of several concepts such as psychomotor development, cerebral ...