Velo-Cardio-Facial Syndrome, Vol. I + Dvd

ABOUT THE BOOK

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.