Velo-Cardio-Facial Syndrome, Volume 1 [With DVD]

Paperback (Print)

Overview

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 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.

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Editorial Reviews

From The Critics
Reviewer: Irene Shetzline Jackson, M.A., CCC-SLP(Theraplay, Inc.)
Description: This book, the first of a two-volume set, describes the etiology and phenotype of velo-cardio-facial syndrome (VCFS) in detail.
Purpose: The authors state that their purpose is to provide a broad base of knowledge that spans a variety of specialties. These objectives are worthy in that VCFS is a complex disorder which requires a transdisciplinary model to provide best care. The authors met these objectives with this book.
Audience: The audience is professionals who work in diagnosing and treating individuals with this syndrome. The authors are internationally recognized specialists in the field. Dr. Shprintzen has defined a number of genetic disorders, including VCFS, and Dr. Golding-Kushner has researched the speech, language, and psychosocial aspects of VCFS.
Features: This book covers the history, phenotype, and genetics of VCFS and provides an overview of treatment areas that need to be addressed. The phenotype is discussed in depth, with each feature being well defined and demonstrated in pictures as appropriate. Treatment considerations are defined, but methods are not discussed. The accompanying DVD enhances learning by providing video clips of the various features of VCFS.
Assessment: Although it provides a wealth of information about the background and characteristics of VCFS, the book does not address treatment considerations in detail. This would be a good reference for geneticists or others diagnosing VCFS, but not for professionals who are providing therapy for individuals with VCFS.
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Product Details

Table of Contents


Preface     ix
The History of VCFS     1
Two Major Events in 1992     9
The Implications     10
Communication Disorders and VCFS     11
The Significance of Two Anomalies Occurring Together     13
The Implications for Speech Pathologists, Surgeons, and Other Craniofacial Specialists     14
What Do I Call It?     14
The Expansive Phenotype of VCFS     21
Craniofacial Anomalies     22
Ear and Hearing Anomalies     40
The Nose     48
Eye Findings     52
Cardiac Findings     61
Vascular Anomalies     70
Brain and Central Nervous System Anomalies     77
Pharyngeal, Laryngeal, and Airway Anomalies     87
Abdominal and Visceral Anomalies     98
Limb Anomalies     102
Problems in Infancy     106
Genitourinary Anomalies     115
Skeletal, Muscle, Spine, and Orthopedic Anomalies     117
Skin and Hair Findings     125
Endocrine and Immune Findings     125
Speech and Language Disorders     131
Cognitive, Learning, and Attentional Disorders     139
Psychiatric Disorders     145
Miscellaneous Anomalies     152
Secondary Developmental Sequences     154
Why the Expansive Phenotype?     158
The Genetics of VCFS     171
What Does Genetic Mean?     172
Mode of Inheritance     172
Describing the Genome at 22q11.2     172
Determining the Nature of the Deletion in VCFS     174
How the Deletion Occurs     176
Identifying the Genes in the Deleted Region     180
Determining What the Genes Do, Identifying     181
Candidate Genes for Specific Phenotypes, and Identifying Polymorphisms
Animal Models and Knockouts     189
How Is a Deletion Different from Other Mutations?     191
Genetic Effects Outside of the 22q11.2 Region that Contribute to the Phenotype     192
Epigenetic Factors that Might Contribute to the Phenotypic Spectrum     193
Genetic Counseling for VCFS     195
Mosaicism and Germline Mosaicism     196
Counseling for People with VCFS     197
Triage in VCFS: Utilizing the Natural History     201
Audiology (Hearing Testing)     202
Cardiology (Pediatric Cardiology)     203
Cardiothoracic Surgery     204
Clinical Genetics and Genetic Counseling      205
Dentistry and Orthodontics     206
Developmental Pediatrics     207
Endocrine Evaluation     208
Gastroenterology (Pediatric Gastroenterology)     209
Immunology Evaluation     210
Magnetic Resonance Imaging and Angiography     211
Nasopharyngoscopy, FEES or FEESST, Direct Laryngoscopy, Bronchoscopy, Esophagoscopy, and Gastroscopy     212
Nephrology     214
Nephrology     215
Neuropsychology     215
Neurosurgical Evaluation     215
Nutrition     216
Ophthalmology (Pediatric Ophthalmology)     216
Orthopedics     217
Otolaryngology     217
Physical Therapy     218
Podiatry     218
Psychiatry     219
Pulmonology (Pediatric Pulmonology)     220
Reconstructive Surgery     220
Renal Ultrasound     221
Speech-Language Evaluation     221
Urology     222
Videofluoroscopy for Speech     222
Videofluoroscopy for Swallowing     223
Growth, Weight Gain, and Feeding     227
Is Short Stature a Feature of VCFS?     227
Significance of these Data and the Growth Curve     244
Possible Flaws in the Data     246
Implications     247
Feeding Therapy     248
Emesis and Spitting Up through the Nose     249
Feeding Time (Duration)     250
Feeding Position     251
Type of Bottle and Nipple     251
Burping     254
Identifying and Understanding the Factors Leading to Problems     254
What If the Child Already Has a Tube?     257
Clinical Synopsis of VCFS     261
Index     269
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