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.
Chapter 1: The History of VCFS
The History of VCFS
Two Major Events in 1992
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
Ear and Hearing Anomalies
Brain and Central Nervous System Anomalies
Pharyngeal, Laryngeal, and Airway Anomalies
Abdominal and Visceral Anomalies
Problems in Infancy
Skeletal, Muscle, Spine, and Orthopedic Anomalies
Skin and Hair Findings
Endocrine and Immune Findings
Speech and Language Disorders
Cognitive, Learning, and Attentional Disorders
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)
Clinical Genetics and Genetic Counseling
Dentistry and Orthodontics
Gastroenterology (Pediatric Gastroenterology)
Magnetic Resonance Imaging and Angiography
Nasopharyngoscopy, FEES or FEESST, Direct Laryngoscopy, Bronchoscopy, Esophagoscopy, and Gastroscopy
Ophthalmology (Pediatric Ophthalmology)
Pulmonology (Pediatric Pulmonology)
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
Emesis and Spitting Up through the Nose
Feeding Time (Duration)
Type of Bottle and Nipple
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.