Robert J. Shprintzen | Akateeminen Kirjakauppa

With an estimated human population prevalence of 1:2000, Velo-Cardio-Facial Syndrome (VCFS) is the second-most common multiple anomaly syndrome in humans and almost all children with the syndrome have speech and language impairments that are generally recognized to be complex and difficult to treat. To demonstrate and to provide clinicians with expert guidance, the authors have produced a comprehensive two-volume set with a combination of text and video demonstrating the clinical features of Velo-Cardio-Facial Syndrome (VCFS); the communication phenotype in VCFS; the natural history of speech and language in VCFS; diagnostic procedures necessary for assessing speech and language disorders in VCFS; the treatment of speech and language impairment in VCFS; and outcomes, demonstrated by video on an accompanying DVD to Volume II. This volume commences with a survey of the history of VCFS and provides an exhaustive description of the 190 phenotypes associated with the syndrome, including speech and language, hearing, cognition, and many other critically affected areas. The genetics of VCFS are extensively covered, including inheritance factors and an exploration of the genome deletion.Thereafter, a range of triage options across a wide variety of medical and allied health disciplines is given, before concluding with a final chapter on growth, weight gain, and feeding.
An accompanying DVD includes 19 video clips with examples to illuminate the accompanying chapter matter.