Clinics in Developmental Medicine No. 177
This book provides a comprehensive review of clinical and genetic
issues, natural history, possible pathophysiological pathways, specific
clinical problems (motor impairment, behaviour, learning difficulties,
communication, sleep, epilepsy), clinical neurophysiology,
neuropathology, rehabilitation and basic research in the field of
Angelman syndrome. This condition is a neurogenetic disorder
characterised by developmental delay, absence of speech, motor
impairment, epilepsy and a peculiar behavioural phenotype. It is caused
by the lack of expression of the UBE3A gene associated with various
abnormalities of chromosome 15q11-13.
Angelman syndrome appears to be distributed equally worldwide. Precise
diagnosis carries clinical and genetic counselling implications.
However, many clinicians still seem unfamiliar with this condition
despite the severity and typical aspects of presentation. Beyond
individual situations, 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 palsy, behavioural phenotypes and epileptic
syndromes.
Recent advances in molecular biology and animal models of the syndrome
have provided new data which can improve our understanding of Angelman
syndrome and open the way to more specific management.
