Papers by Robert Shprintzen
Plastic and Reconstructive Surgery, Mar 1, 1991
Journal of Mental Health Research in Intellectual Disabilities, Apr 14, 2009
Velocardiofacial syndrome (VCFS) also known as DiGeorge, conotruncal anomaly face and Cayler synd... more Velocardiofacial syndrome (VCFS) also known as DiGeorge, conotruncal anomaly face and Cayler syndromes is caused by a microdeletion in the long arm of chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the microdeletion region and the physical and neuropsychiatric phenotype of the syndrome. Velocardiofacial syndrome has a wide spectrum of more than 200 physical manifestations including palate and cardiac anomalies. Yet, the most challenging manifestations of VCFS are the learning disabilities and neuropsychiatric disorders. As VCFS is relatively common and as up to one third of the subjects with VCFS develop schizophrenia like psychotic disorder the syndrome is the most commonly known genetic risk factor to schizophrenia. Identifying the genetic, cognitive and psychiatric risk factors for VCFS-schizophrenia is under the focus of intensive research.
PubMed, 1979
Three methods of pharyngeal flap surgery were analyzed with multiview videofluoroscopy and nasoph... more Three methods of pharyngeal flap surgery were analyzed with multiview videofluoroscopy and nasopharyngoscopy at least six months post-operatively. It was found that, by varying the type of insertion of the flap into the palate, post-operative flap width could be "tailored" to the size of the gap in the velopharyngeal sphincter. The value of varying flap width according to gap size was assessed by analyzing speech results in 60 patients specifically assigned for narrow, moderate, or wide flaps. Results show a marked improvement in the effectiveness of pharyngeal flap surgery when operations are prescribed according to the degree of lateral pharyngeal wall motion seen pre-operatively.
Velo-cardio-facial syndrome is now recognized as one of the most common genetically caused multip... more Velo-cardio-facial syndrome is now recognized as one of the most common genetically caused multiple anomaly syndromes in humans, second in frequency only to Down syndrome. Although it has been known as a specific disorder for more than 40 years, it is only in the past 15 years that its importance as a pathogenetic model for some of the most common human disorders has become appreciated. VCFS has a population prevalence of at least 1:2000 in first world nations that offer modern health care systems. This means that there are at least 150,000 affected individuals in the United States and approximately 12,000 in Taiwan. Our understanding of the genetic cause of VCFS will lead to a better understanding of how speech, language, and behavioral disorders are caused, and how they may best be treated. If we are successful in understanding the basic mechanisms of how genes can cause these common impairments, models for prevention will most likely be developed that will become applicable to the general population thereby benefiting tens or hundreds of millions of people worldwide.
Scholarly journal of otolaryngology, Jul 31, 2019
PubMed, 1979
Passavant's ridge was studied in 43 patients via multiview videofluoroscopy incorporating... more Passavant's ridge was studied in 43 patients via multiview videofluoroscopy incorporating the simultaneous recording of speech. Ratings of the videotapes were made at full speed, in slowmotion, and by stop-framing. The following results were found: (1) Just as there are variable patterns of velopharyngeal closure, there were also variations in the way in which Passavant's ridge is positioned relative to the velum, and in the ridge's subsequent role in velopharyngeal narrowing or closure. (2) The ridge was the primary pharyngeal structure at the level of the velum that closed or locally narrowed the velopharyngeal portal in 37% of patients. (3) Passavant's ridge usually appeared as a structure encompassing both the lateral and posterior pharyngeal walls, and its presence was usually associated with active lateral pharyngeal wall motion. (4) Passavant's ridge was more prominent when the head was in the hyper-extended rather than the neutral position. (5) Passavant's ridge moved in a highly consistent manner, synchronous with velar movement.
PubMed, Jul 1, 1982
In a single normal subject, nasopharyngoscopy was used as an instrument for visual biofeedback of... more In a single normal subject, nasopharyngoscopy was used as an instrument for visual biofeedback of the velopharyngeal sphincter during speech. The goal of the experiment was for the subject to alter the velopharyngeal valving pattern observed during spontaneous speech by manipulating the relative contributions of the velum and pharyngeal walls. After six sessions, each lasting twenty minutes, the subject was able to change velopharyngeal valving pattern at will during short samples of connected speech. This implies the role of learning in velopharyngeal valving and a degree of physiologic plasticity in the velopharyngeal sphincter. The procedure is felt to have possible application to a variety of conditions which have velopharyngeal insufficiency as a symptom.
PubMed, Jul 1, 1980
A questionnaire designed to survey methods of diagnosis and management of velopharyngeal insuffic... more A questionnaire designed to survey methods of diagnosis and management of velopharyngeal insufficiency associated with cleft palate was distributed to over 1,000 speech pathologists in the United States and Canada. There was a 60% response, and 65% of those responding were associated with cleft palate teams. Findings included: (1) 90% of responding cleft palate team members primarily rely on listener judgment, oral examination, and articulation testing in the diagnosis of velopharyngeal insufficiency (VPI) and for the recommendation of pharyngoplasty. (2) Only 11% indicated that their team had a radiologist. (3) More than half of those responding said that they would prefer palatal repair to be completed after the age of two. (4) 60% of those responding regarded VPI as a voice disorder, yet 84% treated the symptoms of VPI with articulation therapy rather than voice therapy.
PubMed, 1985
The velo-cardio-facial syndrome is one of the most common syndromes of clefting. Previous reports... more The velo-cardio-facial syndrome is one of the most common syndromes of clefting. Previous reports have shown vertical pedigree transmission, but in all cases the gene was maternally transmitted. The genetics of this syndrome had been suspected as autosomal dominant, but X-linked dominant inheritance could not be ruled out. This report describes an instance of male-to-male transmission of the velo-cardio-facial syndrome. In addition, the clinical findings in 60 cases are reported to further delineate the phenotypic spectrum of the syndrome.
Syndrome Identification for Audiology: An Illustrated PocketGuide
This book provides a synopsis of the important communicative impairments associated with 160 mult... more This book provides a synopsis of the important communicative impairments associated with 160 multiple anomaly syndromes likely to be encountered by speech-language pathologists. It describes the types of speech, voice, resonance, language, and cognitive disorders associated with each syndrome and provides up-to-date information about the etiology of each of the disorders. Summarized for each entry are a listing of the anomalies associated with the syndromes, the natural history of the disorder, and the treatment prognosis, which allows proper choices of treatment plans, and differential diagnosis. This handy pocket reference is liberally illustrated with examples of the many syndromes described.
American Journal of Human Genetics, Mar 18, 1994
Two lines of evidence point to a region on chromosome 22 as potentially involved in the etiology ... more Two lines of evidence point to a region on chromosome 22 as potentially involved in the etiology of schizophrenia: First, our own linkage data and second, observations that a greater than expected number of cases with the VCF (velo-cardio-facial) syndrome, a developmental syndrome due to microdeletions of the same genetic region, develop psychotic illness during adolescence. On the molecular genetic level, we are testing the hypothesis that the partial phenotypic overlap between schizophrenia and VCF may be due to overlapping genetic abnormalities. To that end, we have generated somatic cell hybrids from an initial group of nine VCF patients over the age of 15 who underwent psychiatric evaluation. Three were assigned a DSM-III-R diagnosis of schizophrenia. Several hybrid cell lines were generated from each patient carrying either the deleted chromosome, or the intact chromosome, or both. We have analyzed these hybrids and the extent of their chromosome 22 deletions with 41 markers so far (21 polymorphic microsatellite markers and 20 STSs). One of these markers is COMT (catechol-O-methyltransferase) that could be considered a candidate for schizophrenia. We are searching for potential molecular genetic differences between the subgroup of VCF patients that do develop schizophrenia and the subgroup that do not.more » Our initial efforts concentrate on the possibility of correlation between the extent of the deletion and the schizophrenic phenotype. Results from our analysis so far will be presented. Our goal is to narrow and define more accurately the region potentially involved in the etiology of schizophrenia and successfully identify any gene(s) that may play a role.« less
Neurology, Dec 6, 2019
Funding information and disclosures are provided at the end of the article. Full disclosure form ... more Funding information and disclosures are provided at the end of the article. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/cp.
Velocardiofacial syndrome (VCFS) also known as DiGeorge, conotruncal anomaly face and Cayler synd... more Velocardiofacial syndrome (VCFS) also known as DiGeorge, conotruncal anomaly face and Cayler syndromes is caused by a microdeletion in the long arm of chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the microdeletion region and the physical and neuropsychiatric phenotype of the syndrome. Velocardiofacial syndrome has a wide spectrum of more than 200 physical manifestations including palate and cardiac anomalies. Yet, the most challenging manifestations of VCFS are the learning disabilities and neuropsychiatric disorders. As VCFS is relatively common and as up to one third of the subjects with VCFS develop schizophrenia like psychotic disorder the syndrome is the most commonly known genetic risk factor to schizophrenia. Identifying the genetic, cognitive and psychiatric risk factors for VCFS-schizophrenia is under the focus of intensive research.
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Papers by Robert Shprintzen