Book series: Clinics in Developmental Medicine

Developmental Disability and Behaviour

This book reviews clinical models for working with developmental disability and behavioural problems. The first section explores the causes and nature of behaviour problems amongst people with physical, learning, language and sensory disabilities, and some key specific conditions. The second section describes the assessment approaches that clinicians will find most useful in evaluating behaviour. The third section covers treatment approaches emphasising the importance of a broad, eclectic approach. The contributors, all acknowledged experts in their fields of paediatrics, psychology and psychiatry, provide a comprehensive overview of this set of major challenges, emphasising the importance of auditory detection, understanding, measurement and treatment.

Clinics in Developmental Medicine No. 149

Angelman Syndrome

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.

Clinics in Developmental Medicine No. 177