The intent of this edited text is an exploration of the differences that one encounters in populations of childhood genetic disorders where clinical and research phenotypes have frequently been reported. The goal is to present information to the reader about some common genetic disorders whose cognitive and behavioral characteristics have been described as well as about neurodevelopmental disorders for which a genetic etiology is thought to be present. By discussing the variety of phenotypic expressions of the underlying genetic disorders and the effects these differences have on the course of development of an affected child, the text seeks to expand on our understanding of the disorders presented. In addition, it seeks to provide the reader with information on the role that genetic etiology, gene expression, and environmental factors may play in the ultimate clinical and research findings presented.
The volume is divided into three major sections. In Part I, chapters focus on fairly common genetic disorders that result in specific syndromes. In each chapter, the genotype is described and often illustrated, the medical consequences of the genetic disorder are described along the course of development and the common cognitive and behavioral outcomes are presented. Important to the theme of the volume, each chapter presents information on the variability of presentations of affected individuals who share a common genotype. Included in this section are chapters on (authors in parentheses): Turner Syndrome in Childhood (Davenport, Hooper, & Zeger); Kleinfelter Syndrome (Ross, Stefanos, & Roeltgen); Fragile X Syndrome (Cornish, Levitas, & Sudhalter); Duchenne Muscular Dystrophy (Hinton & Goldstein); Neurofibromatosis (Slopes & Moore); Chromosome 22q11.2 Deletion Syndrome (Simon, Burg-Malki, & Kothelf); and Williams Syndrome (Mervis & Morris). In each chapter, the genotype is identified along with the physical and behavioral features of the disorder as well as information on the cognitive profiles of affected children. Medical management of the disorder is also discussed. Exemplar cases are used to depict variations in the neurodevelopmental course and outcome of the genetic disorder.
In Part II, a variety of childhood disorders with different etiologies and outcomes are presented in which all share the common problem of complex etiologies. Chapter topics include (authors in parentheses): Congenital Hypothyroidism (Rovet & Brown); Inborn Errors of Metabolism (Antshel & Arnold); and Neurodevelopmental Effects of Childhood Exposure to Heavy Metals (Lidsky, Heaney, Schneider, & Rosen). In this section, the format of each chapter changes somewhat in order to describe the effects of variations in the etiologies of these disorders. Treatment approaches, effects on cognitive and academic functioning, and sections on behavioral problems associated with the disorders are included. Here again, case studies and research data are provided to the reader to underscore the potentially different phenomenology one might encounter in assessing a child with one of the disorders presented. However, due to the sheer number of different inborn errors of metabolism reviewed, the emphasis in this chapter is upon the genetic profile and systemic effects of these disorders.
Part III of the text includes a variety of chapter topics that cover different issues that parents, caregivers, and clinicians would find helpful in understanding how to effectively manage these neurodevelopmental disorders. The chapters include (authors in parentheses): Genetic Counseling (McConkie & O'Daniel); Optimizing Family and Child Functioning for Disorders that result in Mental Retardation (Glidden & Schoolcraft); Genetic Disorders and Learning Disabilities (Mazzocco); Early Intervention and Early Childhood Education Issues (Hatton); and a final chapter on Individual Educational Plans (Sudhalter). A real strength of this volume is that each of the 15 chapters have been written by experts who are involved in both clinical care and research studies of the children covered. The use of case studies helps to demonstrate to the reader how these disorders can share common manifestations of the genetic or presumed genetic etiologies but also can present with differing phenotypic expressions, often across different ages. These differences are important to be recognized by clinicians assessing the child and can have a significant effect on the management of the affected child's developmental needs. Case studies allow for the illustration of issues that may arise at different ages and stages of the child's physical, cognitive, and behavioral development.
Any neuropsychologist whose practice includes assessment of children with the disorders covered in this text will find the volume to be a rich and current information resource. It should stand up well alongside other recent additions to the literature focusing on neurodevelopmental disorders including: Goldstein and Reynolds (1999, 2005), Dewey and Tupper (2004), and Yeates, Ris, and Taylor (2000).