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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

Acquired Brain Injury in the Fetus and Newborn

Acquired Brain Injury in the Fetus and Newborn front cover

Given the tremendous advances in the last five years in the understanding of acquired neonatal brain injury and in the care of affected newborn infants, this book provides a timely review for the practising neurologist, neonatologist and pediatrician.

The editors take a pragmatic approach, focusing on specific populations encountered regularly by the clinician.

They begin by addressing aspects of fetal neurology and the interpretation of fetal imaging studies. They then follow a ‘bench to bedside’ approach to acquired brain injury in the preterm and term newborn infant in the next chapters. The contributors, all internationally recognized clinician scientists, provide the clinician reader with a state-of-the art review in their area of expertise. The final section of the book address special populations and concerns, areas that are largely overlooked in existing neurology textbooks. Each of these areas has seen considerable advances in the last five years and is of increasing relevance to the neurologist and neonatologist clinician.

The comprehensive nature of each section (from basic science to acute clinical care to outcomes) should appeal broadly to scientists and allied health professionals working in neonatal neurology.

Readership

Paediatric neurologists, neonatologists, neurologists and paediatricians, clinicians in child development, child health researchers and allied health professionals (in physiotherapy, occupational therapy, speech therapy and psychology). Trainees in these areas.

International Review of Child Neurology No. 13