Velo-Cardio-Facial Syndrome

Volume 1.
Robert J. Shprintzen, Ph.D. and
Karen J. Golding-Kushner, Ph.D.
279 pages. Softcover. 7 X 10" (254x178mm).
ISBN10: 1-59756-071-5. ISBN13: 978-1-59756-071-9.
USD $89.95 CAD $101.00 £57.00 AUD $140.00
Includes DVD.

TEXTBOOK
Instructors: click here to request a 90-day examination copy of this book.





Forthcoming Spring 2009

Velo-Cardio-Facial Syndrome

Volume 2.
Treatment of Communication Disorders

Karen J. Golding-Kushner, Ph.D. and
Robert J. Shprintzen, Ph.D.
256 pages (approx.). Softcover. 7 X 10" (254x178mm).
CD Included.
ISBN10: 1-59756-157-6. ISBN13: 978-1-59756-157-0.
USD $89.95 CAD $101.00 £57.00 AUD $140.00

TEXTBOOK
Instructors: click here to request a 90-day examination copy of this book.


ABOUT THE BOOKS
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 CD-ROM to Volume 2.

CONTENTS

• Preface
• Chapter 1: The History of VCFS
• The History of VCFS
• Two Major Events in 1992
• The Implications
• Communication Disorders and VCFS
• The Significance of Two Anomalies Occurring Together
• The Implications for Speech Pathologists, Surgeons, and Other Craniofacial Specialists
• What Do I Call It?
• Chapter 2: The Expansive Phenotype of VCFS
• Craniofacial Anomalies
• Ear and Hearing Anomalies
• The Nose
• Eye Findings
• Cardiac Findings
• Vascular Anomalies
• Brain and Central Nervous System Anomalies
• Pharyngeal, Laryngeal, and Airway Anomalies
• Abdominal and Visceral Anomalies
• Limb Anomalies
• Problems in Infancy
• Genitourinary Anomalies
• Skeletal, Muscle, Spine, and Orthopedic Anomalies
• Skin and Hair Findings
• Endocrine and Immune Findings
• Speech and Language Disorders
• Cognitive, Learning, and Attentional Disorders
• Psychiatric Disorders
• Miscellaneous Anomalies
• Secondary Developmental Sequences
• Why the Expansive Phenotype ?
• Chapter 3: The Genetics of VCFS
• What Does Genetic Mean?
• Mode of Inheritance
• Describing the Genome at 22q11.2
• Determining the Nature of the Deletion in VCFS
• How the Deletion Occurs
• Identifying the Genes in the Deleted Region
• Determining What the Genes Do, Identifying Candidate Genes for Specific Phenotypes, and Identifying Polymorphisms
• Animal Models and Knockouts
• How Is a Deletion Different from Other Mutations?
• Genetic Effects Outside of the 22q11.2 Region that Contribute to the Phenotype
• Epigenetic Factors that Might Contribute to the Phenotypic Spectrum
• Genetic Counseling for VCFS
• Mosaicism and Germline Mosaicism
• Counseling for People with VCFS
• Chapter 4: Triage in VCFS: Utilizing the Natural History
• Audiology (Hearing Testing)
• Cardiology (Pediatric Cardiology)
• Cardiothoracic Surgery
• Clinical Genetics and Genetic Counseling
• Dentistry and Orthodontics
• Developmental Pediatrics
• Endocrine Evaluation
• Gastroenterology (Pediatric Gastroenterology)
• Immunology Evaluation
• Magnetic Resonance Imaging and Angiography
• Nasopharyngoscopy, FEES or FEESST, Direct Laryngoscopy, Bronchoscopy, Esophagoscopy, and Gastroscopy
• Nephrology
• Neurology
• Neuropsychology
• Neurosurgical Evaluation
• Nutrition
• Ophthalmology (Pediatric Ophthalmology)
• Orthopedics
• Otolaryngology
• Physical Therapy
• Podiatry
• Psychiatry
• Pulmonology (Pediatric Pulmonology)
• Reconstructive Surgery
• Renal Ultrasound
• Speech-Language Evaluation
• Urology
• Videofluoroscopy for Speech
• Videofluoroscopy for Swallowing
• Chapter 5: Growth, Weight Gain, and Feeding
• Is Short Stature a Feature of VCFS?
• Significance of these Data and the Growth Curve
• Possible Flaws in the Data
• Implications
• Feeding Therapy
• Emesis and Spitting Up through the Nose
• Feeding Time (Duration)
• Feeding Position
• Type of Bottle and Nipple
• Burping
• Identifying and Understanding the Factors Leading to Problems
• What If the Child Already Has a Tube?
• Appendix: Clinical Synopsis of VCFS

ABOUT THE AUTHORS
Karen J. Golding-Kushner, Ph.D., Executive Director of The Velo-Cardio-Facial Syndrome Educational Foundation, Inc.

Robert J. Shprintzen, Ph.D., Director, Communication Disorder Unit; Director; The Center for the Diagnosis, Treatment, and Study of Velo-Cardio-Facial Syndrome; and Director of The Center for Genetic Communicative Disorders, State University of New York Upstate Medical University, Syracuse.

AUDIENCE
Primary: Speech-Language Pathology

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