- Subject index
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 10: Tuberous Sclerosis Complex
Tuberous Sclerosis Complex
Brief Historical Perspective
Tuberous sclerosis complex (TSC) is a multisystem genetic disorder, inherited in autosomal dominant fashion, and is caused by mutations in one of the two genes, the TSC1 gene on chromosome 9q34 or the TSC2 gene on chromosome 16pl3.3 (Crino et al., 2006; Curatolo, 2003; Curatolo et al., 2008; Povey et al., 1994). The disorder is associated with an enormous range of neurodevelopmental difficulties ranging from profound intellectual disability and clear-cut developmental disorders to subtle neuropsychological deficits (de Vries et al., 2007; Prather & de Vries, 2004).
The term ‘tuberous sclerosis’ was first coined by Desire-Magloire Bourneville, a French physician, in 1880. Bourneville published the case of a 15-year-old girl, referred to as L. Marie, who had ...