Bernard Dan - Böcker

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.

The only complete, scientifically rigorous, fully integrated reference giving a wide ranging and in-depth perspective on cerebral palsy and related neurodevelopment disabilities.  It considers all aspects of cerebral palsy from the causes to clinical problems and their implications for individuals. Leading scientists present the evidence on the role of pre-term birth, inflammation, hypoxia, endocrinological and other pathways. They explore opportunities for neuroprotection leading to clinical applications.An international team of experts provides clinicians and researchers with key information on the mechanisms underlying impairments in movement, development, cognition, communication, vision, feeding, behaviour, sexuality, and musculoskeletal deformities.  They present a wide range of person-centred assessment approaches, including clinical evaluation, measurement scales, neuroimaging and gait analysis. The principles of multi-disciplinary management are presented, in terms of therapist intervention, medication and surgery. The perspective of the book spans the lifelong course of cerebral palsy, taking into account worldwide differences in socio-economic and cultural factors. Many chapters are illustrated with clinical vignettes enabling direct translation into practice.Full integrated colour, with extensive cross-referencing make this a highly attractive and useful reference.