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2015

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Full-Text Articles in Communication Sciences and Disorders

Semantic Integration In Adults With Nonverbal Learning Disabilities And Autism Spectrum Disorder: Influence Of Word Knowledge And Gestalt Perception, Margot E. Stothers Dec 2015

Semantic Integration In Adults With Nonverbal Learning Disabilities And Autism Spectrum Disorder: Influence Of Word Knowledge And Gestalt Perception, Margot E. Stothers

Electronic Thesis and Dissertation Repository

Language in individuals with nonverbal learning disabilities (NLD) and autism spectrum disorder (ASD) has been described as semantically empty and impoverished, despite apparently average word knowledge. Here, inter-related studies explored semantic representations in adults with these disorders of social perception. Studies highlighted semantic integration, a form of gestalt perception in which new concepts are developed by connecting familiar terms in novel ways. Semantic integration was compared to vocabulary breadth, and to nonverbal gestalt perception, comparing clinical groups to each other and to adults without a diagnosis. Because weaknesses in gestalt perception have been seen in NLD and ASD, it was …


22q11.2 Deletion Syndrome: Are Motor Deficits More Than Expected For Iq Level?, Nancy Roizen, Anne Higgins, Kevin Antshel, Wanda Fremont, Robert Shprintzen, Wendy Kates Dec 2015

22q11.2 Deletion Syndrome: Are Motor Deficits More Than Expected For Iq Level?, Nancy Roizen, Anne Higgins, Kevin Antshel, Wanda Fremont, Robert Shprintzen, Wendy Kates

Robert J. Shprintzen

To examine motor function in children with 22q11.2 deletion syndrome (22q11.2) and a Full Scale IQ (FSIQ) comparable control group. This study was part of a prospective study of neuropsychological function in children 9 to 15 years of age with 22q11.2 and community control subjects and included children from these two populations with comparable FSIQs. Verbal IQs on the WISC-R for 40 children with 22q11.2 (88.4) and 24 community control subjects (87.2) were not different (P=.563). However, the performance IQs were (22q11.2; 81.1 vs community controls; 89.3; P


Mapping Cortical Morphology In Youth With Velocardiofacial (22q11.2 Deletion) Syndrome, Wendy Kates, Ravi Bansal, Wanda Fremont, Xuejun Hao, Anne Higgins, Jun Liu, Robert Shprintzen, Bradley Peterson Dec 2015

Mapping Cortical Morphology In Youth With Velocardiofacial (22q11.2 Deletion) Syndrome, Wendy Kates, Ravi Bansal, Wanda Fremont, Xuejun Hao, Anne Higgins, Jun Liu, Robert Shprintzen, Bradley Peterson

Robert J. Shprintzen

Objective: Velo-cardio-facial syndrome (VCFS; 22q11.2 deletion syndrome) represents one of the highest known risk factors for schizophrenia. Insofar as up to thirty percent of individuals with this genetic disorder develop schizophrenia, VCFS constitutes a unique, etiologically homogeneous model for understanding the pathogenesis of schizophrenia. Method: Using a longitudinal, case-control design, we acquired anatomic magnetic resonance images to investigate both cross-sectional and longitudinal alterations in surface cortical morphology in a cohort of adolescents with VCFS and age-matched typical controls. All participants were scanned at two time points. Results: Relative to controls, youth with VCFS exhibited alterations in inferior frontal, dorsal frontal, …


A Gender-Moderated Effect Of A Functional Comt Polymorphism On Prefrontal Brain Morphology And Function In Velo-Cardio-Facial Syndrome (22q11.2 Deletion Syndrome), Wendy Kates, Kevin Antshel, Nuria Abdulsabur, Deirdre Colgan, Birgit Funke, Wanda Fremont, Anne Marie Higgins, Raju Kucherlapati, Robert Shprintzen Dec 2015

A Gender-Moderated Effect Of A Functional Comt Polymorphism On Prefrontal Brain Morphology And Function In Velo-Cardio-Facial Syndrome (22q11.2 Deletion Syndrome), Wendy Kates, Kevin Antshel, Nuria Abdulsabur, Deirdre Colgan, Birgit Funke, Wanda Fremont, Anne Marie Higgins, Raju Kucherlapati, Robert Shprintzen

Robert J. Shprintzen

Caused by a microdeletion at the q11.2 locus of chromosome 22, velo-cardio-facial syndrome (also known as VCFS, 22q11 deletion syndrome, DiGeorge sequence, and conotruncal anomalies face syndrome) is associated with a distinctive physical, neurocognitive, and psychiatric phenotype. Increasing interest has centered on identifying the candidate genes within the deleted region that may contribute to this phenotype. One attractive candidate gene is catechol-O-methyltransferase (COMT) because it encodes for a protein that degrades dopamine. Variability in COMT activity is related to a Val158Met polymorphism that has been implicated in prefrontal lobe cognitive and neuropsychiatric function. We examined the effect of this polymorphism …


Language And Literacy Development In Individuals With Velo­‐Cardio­‐Facial Syndrome, Kevin Antshel, Eileen Marrinan, Wendy Kates, Wanda Fremont, Robert Shprintzen Dec 2015

Language And Literacy Development In Individuals With Velo­‐Cardio­‐Facial Syndrome, Kevin Antshel, Eileen Marrinan, Wendy Kates, Wanda Fremont, Robert Shprintzen

Robert J. Shprintzen

Velo-cardio-facial syndrome (VCFS) is a genetic disorder caused by a microdeletion of chromosome 22q11.2. Although there is some variability, VCFS is associated with a characteristic physical, behavioral, and cognitive phenotype. This review article focuses on aspects of language and literacy development in VCFS, describing what is known and offering avenues for future research. The most consistently reported language and literacy findings in the VCFS population include reading, spelling, phonological processing, and auditory verbal rote memory abilities as areas of relative strength. Receptive language abilities are noted to be relatively stronger than expressive language abilities in individuals with VCFS. Speech disorders …


Atlas-Based White Matter Analysis In Individuals With Velo-Cardio-Facial Syndrome (22q11.2 Deletion Syndrome) And Unaffected Siblings, Petya Radoeva, Ioana Coman, Kevin Antshel, Wanda Fremont, Christopher Mccarthy, Ashwini Kotkar, Dongliang Wang, Robert Shprintzen, Wendy Kates Dec 2015

Atlas-Based White Matter Analysis In Individuals With Velo-Cardio-Facial Syndrome (22q11.2 Deletion Syndrome) And Unaffected Siblings, Petya Radoeva, Ioana Coman, Kevin Antshel, Wanda Fremont, Christopher Mccarthy, Ashwini Kotkar, Dongliang Wang, Robert Shprintzen, Wendy Kates

Robert J. Shprintzen

Background: Velo-cardio-facial syndrome (VCFS, MIM#192430, 22q11.2 Deletion Syndrome) is a genetic disorder caused by a deletion of about 40 genes at the q11.2 band of one copy of chromosome 22. Individuals with VCFS present with deficits in cognition and social functioning, high risk of psychiatric disorders, volumetric reductions in gray and white matter (WM) and some alterations of the WM microstructure. The goal of the current study was to characterize the WM microstructural differences in individuals with VCFS and unaffected siblings, and the correlation of WM microstructure with neuropsychological performance. We hypothesized that individuals with VCFS would have decreased indices …


Enhanced Maternal Origin Of The 22q11.2 Deletion In Velocardiofacial And Digeorge Syndromes, Maria Delio, Tingwei Guo, Donna Mcdonald-Mcginn, Elaine Zackai, Sean Herman, Mark Kaminetzky, Anne Higgins, Karlene Coleman, Carolyn Chow, Maria Jalbrzikowski, Carrie Bearden, Alice Bailey, Anders Vangkilde, Line Olsen, Charlotte Olesen, Flemming Skovby, Thomas Werge, Ludivine Templin, Tiffany Busa, Nicole Philip, Ann Swillen, Joris Vermeesch, Koen Devriendt, Maude Schneider, Sophie Dahoun, Stephen Eliez, Kelly Schoch, Stephen Hooper, Vandana Shashi, Joy Samanich, Robert Marion, Therese Van Amelsvoort, Erik Boot, Petra Klaassen, Sasja Duijiff, Jacob Vorstman, Tracy Yuen, Candice Silversides, Eva Chow, Anne Bassett, Amos Frisch, Abraham Weizman, Doron Gothelf, Maria Niarchou, Marianne Van Den Bree, Michael Owen, Damian Heine Suñer, Jordi Rosell Andreo, Marco Armando, Stefano Vicari, Maria Digilio, Adam Auton, Wendy Kates, Tao Wang, Robert Shprintzen, Beverly Emanuel, Bernice Morrow Dec 2015

Enhanced Maternal Origin Of The 22q11.2 Deletion In Velocardiofacial And Digeorge Syndromes, Maria Delio, Tingwei Guo, Donna Mcdonald-Mcginn, Elaine Zackai, Sean Herman, Mark Kaminetzky, Anne Higgins, Karlene Coleman, Carolyn Chow, Maria Jalbrzikowski, Carrie Bearden, Alice Bailey, Anders Vangkilde, Line Olsen, Charlotte Olesen, Flemming Skovby, Thomas Werge, Ludivine Templin, Tiffany Busa, Nicole Philip, Ann Swillen, Joris Vermeesch, Koen Devriendt, Maude Schneider, Sophie Dahoun, Stephen Eliez, Kelly Schoch, Stephen Hooper, Vandana Shashi, Joy Samanich, Robert Marion, Therese Van Amelsvoort, Erik Boot, Petra Klaassen, Sasja Duijiff, Jacob Vorstman, Tracy Yuen, Candice Silversides, Eva Chow, Anne Bassett, Amos Frisch, Abraham Weizman, Doron Gothelf, Maria Niarchou, Marianne Van Den Bree, Michael Owen, Damian Heine Suñer, Jordi Rosell Andreo, Marco Armando, Stefano Vicari, Maria Digilio, Adam Auton, Wendy Kates, Tao Wang, Robert Shprintzen, Beverly Emanuel, Bernice Morrow

Robert J. Shprintzen

Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallelic homologous recombination events between low-copy repeats, also known as segmental duplications. Although previous studies exist, each was of small size, and it remains to be determined whether there are parent-of-origin biases for the de novo 22q11.2 deletion. To address this question, we genotyped a total of 389 DNA samples from 22q11DS-affected families. A total of 219 (56%) individuals with 22q11DS had maternal origin and 170 (44%) had paternal origin of the de novo deletion, …


Manic Symptoms And Behavioral Dysregulation In Youth With Velocardiofacial Syndrome (22q11.2 Deletion Syndrome)., Alka Aneja, Wanda Fremont, Kevin Antshel, Stephen Faraone, Nuria Abdulsabur, Anne Marie Higgins, Robert Shprintzen, Wendy Kates Dec 2015

Manic Symptoms And Behavioral Dysregulation In Youth With Velocardiofacial Syndrome (22q11.2 Deletion Syndrome)., Alka Aneja, Wanda Fremont, Kevin Antshel, Stephen Faraone, Nuria Abdulsabur, Anne Marie Higgins, Robert Shprintzen, Wendy Kates

Robert J. Shprintzen

Mania and bipolar disorder have been reported in adolescents and adults with velocardiofacial syndrome (VCFS; also known as 22q11.2 deletion syndrome). Children with VCFS have a high prevalence of attention-deficit/hyperactivity disorder (ADHD), which may constitute a risk factor for the eventual development of bipolar disorder in this population. Therefore, we sought to determine whether children with VCFS exhibit more manic symptoms than community controls that also may have learning disorders and ADHD. The study population consisted of 86 children with VCFS and 36 community controls from ages 9 to 15 years, using measures of Young Mania Rating Scale-Parent Version, Schedule …


Velo-Cardio-Facial Syndrome, Doron Gothelf, Amos Frisch, Elena Michaelovsky, Abraham Weizman, Robert Shprintzen Dec 2015

Velo-Cardio-Facial Syndrome, Doron Gothelf, Amos Frisch, Elena Michaelovsky, Abraham Weizman, Robert Shprintzen

Robert J. Shprintzen

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 …


22q11.2ds Deletion Syndrome: Developmental Milestones In Infants And Toddlers, Nancy Roizen, Kevin Antshel, Wanda Fremont, Nuria Abdulsabur, Anne Marie Higgins, Robert Shprintzen, Wendy Kates Dec 2015

22q11.2ds Deletion Syndrome: Developmental Milestones In Infants And Toddlers, Nancy Roizen, Kevin Antshel, Wanda Fremont, Nuria Abdulsabur, Anne Marie Higgins, Robert Shprintzen, Wendy Kates

Robert J. Shprintzen

The majority of children with 22q11.2DS deletion syndrome (22q11.2DS) have learning disabilities, and a substantial number have mental retardation. Although cognitive data have been reported on several samples of children with 22q11.2DS, data on their early developmental milestones are limited. Methods: The present study used a retrospective design and asked parents to recall developmental milestones. The participants were 88 children with 22q11.2DS, 47 community controls, and 29 sibling controls. Results: Although very early gross motor and expressive language milestones did not differ significantly from comparison groups, subsequent gross motor and expressive language milestones did, suggesting that children with 22q11.2DS may …


Genomic Disorders On Chromosome 22, Shihui Yu, William Graf, Robert Shprintzen Dec 2015

Genomic Disorders On Chromosome 22, Shihui Yu, William Graf, Robert Shprintzen

Robert J. Shprintzen

Purpose of review: Chromosome 22, the first human chromosome to be completely sequenced, is prone to genomic alterations. Copy-number variants (CNVs) are common because of an enrichment of low-copy repeat sequences that precipitate a high frequency of nonallelic homologous misalignments and unequal recombination during meiosis. Among these is one of the most common multiple anomaly syndromes in humans and the most common microdeletion syndrome, velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome and DiGeorge syndrome. This review will focus on the recent literature dealing with both the molecular and clinical aspects of chromosome 22 genomic variations. Although the literature …


Cleft Palate, Retrognathia And Congenital Heart Disease In Velo-Cardio-Facial Syndrome: A Phenotype Correlation Study, Marcia Friedman, Nathanial Miletta, Cheryl Roe, Dongliang Wang, Bernice Morrow, Wendy Kates, Anne Higgins, Robert Shprintzen Dec 2015

Cleft Palate, Retrognathia And Congenital Heart Disease In Velo-Cardio-Facial Syndrome: A Phenotype Correlation Study, Marcia Friedman, Nathanial Miletta, Cheryl Roe, Dongliang Wang, Bernice Morrow, Wendy Kates, Anne Higgins, Robert Shprintzen

Robert J. Shprintzen

Objective: Velo-cardio-facial syndrome (VCFS) is caused by a microdeletion of approximately 40 genes from one copy of chromosome 22. Expression of the syndrome is a variable combination of over 190 phenotypic characteristics. As of yet, little is known about how these phenotypes correlate with one another or whether there are predictable patterns of expression. Two of the most common phenotypic categories, congenital heart disease and cleft palate, have been proposed to have a common genetic relationship to the deleted T-box 1 gene (TBX1). The purpose of this study is to determine if congenital heart disease and cleft palate are correlated …


Neuroanatomic Predictors To Prodromal Psychosis In Velocardiofacial Syndrome (22q11.2 Deletion Syndrome): A Longitudinal Study, Wendy Kates, Kevin Antshel, Stephen Faraone, Wanda Fremont, Anne Higgins, Robert Shprintzen, Jo-Anna Botti, Lauren Kelchner, Christopher Mccarthy Dec 2015

Neuroanatomic Predictors To Prodromal Psychosis In Velocardiofacial Syndrome (22q11.2 Deletion Syndrome): A Longitudinal Study, Wendy Kates, Kevin Antshel, Stephen Faraone, Wanda Fremont, Anne Higgins, Robert Shprintzen, Jo-Anna Botti, Lauren Kelchner, Christopher Mccarthy

Robert J. Shprintzen

Background: Up to 30% of young adults with velocardiofacial syndrome (VCFS; 22q11.2 deletion syndrome) develop schizophrenia or psychosis. Identifying the neuroanatomic trajectories that increase risk for psychosis in youth with this genetic disorder is of great interest. Methods: We acquired high-resolution anatomic MR images and measures of psychiatric function on 72 youth with VCFS, 26 unaffected siblings and 24 age-matched community controls at two timepoints, between late childhood (mean age, 11.9 years) and mid-adolescence (mean age, 15.1 years). Results: With the exception of cranial gray matter and orbitofrontal prefrontal cortex, neuroanatomic trajectories in youth with VCFS were comparable to unaffected …


Velo-Cardio-Facial Syndrome: 30 Years Of Study, Robert Shprintzen Dec 2015

Velo-Cardio-Facial Syndrome: 30 Years Of Study, Robert Shprintzen

Robert J. Shprintzen

Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlačková syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an expansive phenotype with more than 180 clinical features described that involve essentially every organ and system. The syndrome has drawn considerable attention because a number of common psychiatric illnesses are phenotypic features including attention deficit disorder, schizophrenia, and bipolar disorder. The expression is highly variable with some individuals being essentially …


Overt Cleft Palate Phenotype And Tbx1 Genotype Correlations In Velo-Cardio-Facial/Digeorge/22q11.2 Deletion Syndrome Patients, Sean Herman, Tingwei Guo, Donna Mcdonald Mcginn, Anna Blonska, Alan Shanske, Anne Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony Simon, Karlene Coleman, Damian Heine Suñer, Jordi Rosell, Wendy Kates, Marcella Devoto, Elaine Zackai, Tao Wang, Robert Shprintzen, Beverly Emanuel, Bernice Morrow, International Chromosome 22q11.2 Consortium Dec 2015

Overt Cleft Palate Phenotype And Tbx1 Genotype Correlations In Velo-Cardio-Facial/Digeorge/22q11.2 Deletion Syndrome Patients, Sean Herman, Tingwei Guo, Donna Mcdonald Mcginn, Anna Blonska, Alan Shanske, Anne Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony Simon, Karlene Coleman, Damian Heine Suñer, Jordi Rosell, Wendy Kates, Marcella Devoto, Elaine Zackai, Tao Wang, Robert Shprintzen, Beverly Emanuel, Bernice Morrow, International Chromosome 22q11.2 Consortium

Robert J. Shprintzen

Velo-cardio-facial syndrome/DiGeorge syndrome, also known as 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, with an estimated incidence of 1/2,000 – 1/4,000 live births. Approximately 9–11% of patients with this disorder have an overt cleft palate (CP), but the genetic factors responsible for CP in the 22q11DS subset are unknown. The TBX1 gene, a member of the T-box transcription factor gene family, lies within the 22q11.2 region that is hemizygous in patients with 22q11DS. Inactivation of one allele of Tbx1 in the mouse does not result in CP, but inactivation of both alleles does. Based on these data, …


Catatonia In An Adolescent With Velo-Cardio-Facial Syndrome, Gianni Faedda, Lee Wachtel, Anne Marie Higgins, Robert Shprintzen Dec 2015

Catatonia In An Adolescent With Velo-Cardio-Facial Syndrome, Gianni Faedda, Lee Wachtel, Anne Marie Higgins, Robert Shprintzen

Robert J. Shprintzen

Velo-cardio-facial syndrome (VCFS) is the most common microdeletion syndrome in humans and is probably the most frequent genetic cause of psychosis currently known. Many psychiatric disorders have been reported to occur in people with VCFS including, but not limited to schizophrenia, unipolar and bipolar mood disorders (with or without psychotic features), schizoaffective disorder, psychosis NOS, social phobia, generalized and separation anxiety, obsessive-compulsive disorder, autism spectrum disorder, cognitive impairment, and ADHD. This report describes the psychiatric onset and development of catatonia in an adolescent female with VCFS that was undiagnosed until 15 years of age. Catatonia may be a relatively common …


Pharyngeal Flap And Obstructive Apnea: Maximizing Speech Outcome While Limiting Complications, Burke Chegar, Robert Shprintzen, Michael Curtis, Sherard Tatum Dec 2015

Pharyngeal Flap And Obstructive Apnea: Maximizing Speech Outcome While Limiting Complications, Burke Chegar, Robert Shprintzen, Michael Curtis, Sherard Tatum

Robert J. Shprintzen

Objective To assess speech results and rate of obstructive sleep apnea using a modified, superiorly based pharyngeal flap performed after staged adenotonsillectomy in a group with velopharyngeal insufficiency. Methods In this nonrandomized, retrospective case series (July 1, 1996, through June 30, 2003), patients were mainly children referred to a multispecialty craniofacial clinic. Patients underwent staged adenotonsillectomy 2 months before width-customized pharyngeal flap surgery. Short flaps were created high above the level of the palate, just long enough to reach the nasal surface. Donor sites were closed by superior advancement of the inferior posterior pharyngeal wall tissue. Cardiopulmonary and oximetry data …


Cervical Vascular And Upper Airway Asymmetry In Velo-Cardio-Facial Syndrome: Correlation Of Nasopharyngoscopy With Mra, Avi Oppenheimer, Susan Fulmer, Keivan Shifteh, Ja-Kwei Chang, Allan Brook, Alan Shanske, Robert Shprintzen Dec 2015

Cervical Vascular And Upper Airway Asymmetry In Velo-Cardio-Facial Syndrome: Correlation Of Nasopharyngoscopy With Mra, Avi Oppenheimer, Susan Fulmer, Keivan Shifteh, Ja-Kwei Chang, Allan Brook, Alan Shanske, Robert Shprintzen

Robert J. Shprintzen

Purpose Velo-cardio-facial syndrome (VCFS), the most common genetic syndrome causing cleft palate, is associated with internal carotid and vertebral artery anomalies, as well as upper airway asymmetry. Medially displaced internal carotid arteries, often immediately submucosal, present a risk of vascular injury during pharyngeal flap surgery for velopharyngeal insufficiency (VPI). We evaluate the frequency and spectrum of cervical vascular anomalies in a large cohort of VCFS patients correlating MRA with nasopharyngolaryngoscopy in detecting at risk carotid arteries. Furthermore, we assess the relationship with respect to laterality between cervical vascular patterns and the asymmetric abnormalities of these subjects’ upper airways. Methods Cervical …


The Effects Of Gender And Catechol O-Methyltransferase (Comt) Val108/158met Polymorphism On Emotion Regulation In Velo-Cardio-Facial Syndrome (22q11.2 Deletion Syndrome): An Fmri Study, Ioana Coman, Matthew Gnirke, Frank Middleton, Kevin Antshel, Wanda Fremont, Anne Higgins, Robert Shprintzen, Wendy Kates Dec 2015

The Effects Of Gender And Catechol O-Methyltransferase (Comt) Val108/158met Polymorphism On Emotion Regulation In Velo-Cardio-Facial Syndrome (22q11.2 Deletion Syndrome): An Fmri Study, Ioana Coman, Matthew Gnirke, Frank Middleton, Kevin Antshel, Wanda Fremont, Anne Higgins, Robert Shprintzen, Wendy Kates

Robert J. Shprintzen

Velo-cardio-facial syndrome (VCFS) is caused by a micro-deletion of over 40 genes at the q11.2 locus of chromosome 22 and is a risk factor for the development of schizophrenia and other psychiatric disorders. COMT, one of the genes located in the deleted region, has been considered as a major candidate gene for genetic susceptibility in psychiatric diseases. Its functional polymorphism Val108/158Met has been shown to affect prefrontal function and working memory and has been associated with emotional dysregulation. We utilized a functional magnetic resonance imaging (fMRI) event-related paradigm to asses COMT genotype and gender-moderated effects on the neural activation that …


Comparing Phenotypes In Patients With Idiopathic Autism To Patients With Velocardiofacial Syndrome (22q11 Ds) With And Without Autism, Wendy Kates, Kevin Antshel, Wanda Fremont, Robert Shprintzen, Leslie Strunge, Courtney Burnette, Anne Marie Higgins Dec 2015

Comparing Phenotypes In Patients With Idiopathic Autism To Patients With Velocardiofacial Syndrome (22q11 Ds) With And Without Autism, Wendy Kates, Kevin Antshel, Wanda Fremont, Robert Shprintzen, Leslie Strunge, Courtney Burnette, Anne Marie Higgins

Robert J. Shprintzen

At least three research groups have reported that autism is diagnosed in up to 20% of children with velocardiofacial syndrome (VCFS). However the degree of phenotypic overlap between VCFS-affected children with autism and those with idiopathic autism has not been established. The purpose of this study was to define and differentiate the behavioral phenotype of autism in samples of children with either (VCFS) or idiopathic autism. Five groups of children ages 5–15 were included in the between-group design. Parent report of autism behaviors (based on the Autism Diagnostic Interview-Revised, ADI-R) were compared between children with VCFS, children with VCFS and …


Cortical Gyrification In Velo-Cardio-Facial (22q11.2 Deletion) Syndrome: A Longitudinal Study, Arun Kunwar, Seethalakshmi Ramanathan, Joshua Nelson, Kevin Antshel, Wanda Fremont, Anne Higgins, Robert Shprintzen, Wendy Kates Dec 2015

Cortical Gyrification In Velo-Cardio-Facial (22q11.2 Deletion) Syndrome: A Longitudinal Study, Arun Kunwar, Seethalakshmi Ramanathan, Joshua Nelson, Kevin Antshel, Wanda Fremont, Anne Higgins, Robert Shprintzen, Wendy Kates

Robert J. Shprintzen

Introduction: Velo-cardio-facial syndrome (VCFS) has been identified as an important risk factor for psychoses, with up to 32% of individuals with VCFS developing a psychotic illness. Individuals with VCFS thus form a unique group to identify and explore early symptoms and biological correlates of psychosis. In this study, we examined if cortical gyrification pattern, i.e. gyrification index (GI) can be a potential neurobiological marker for psychosis. Method: GIs of 91 individuals with VCFS were compared with 29 siblings and 54 controls. Further, 58 participants with VCFS, 21 siblings and 18 normal controls were followed up after 3 years and longitudinal …


Adhd, Major Depressive Disorder, And Simple Phobias Are Prevalent Psychiatric Conditions In Youth With Velocardiofacial Syndrome, Kevin Antshel, Wanda Fremont, Nancy Roizen, Robert Shprintzen, Anne Marie Higgins, Amit Dhamoon, Wendy Kates Dec 2015

Adhd, Major Depressive Disorder, And Simple Phobias Are Prevalent Psychiatric Conditions In Youth With Velocardiofacial Syndrome, Kevin Antshel, Wanda Fremont, Nancy Roizen, Robert Shprintzen, Anne Marie Higgins, Amit Dhamoon, Wendy Kates

Robert J. Shprintzen

Objective: To examine prevalence rates of psychopathology in children with velocardiofacial syndrome (VCFS).

Method: One hundred fifty-four children ages 6 to 15 participated in our between-group design with three samples, 84 children with VCFS (37 girls, 47 boys), 32 sibling controls (18 girls, 14 boys), and 38 community controls (12 girls, 26 boys). The Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime version and several other parent report measures were used to assess for psychopathology.

Results: Compared to both control samples, children with VCFS had higher prevalence rates of major depressive disorder, attention-deficit/hyperactivity disorder, simple phobias, and …


Temperament In Velocardiofacial Syndrome, Kevin Antshel, K. Stallone, Nuria Abdulsabur, Robert Shprintzen, Nancy Roizen, Anne Marie Higgins, Wendy Kates Dec 2015

Temperament In Velocardiofacial Syndrome, Kevin Antshel, K. Stallone, Nuria Abdulsabur, Robert Shprintzen, Nancy Roizen, Anne Marie Higgins, Wendy Kates

Robert J. Shprintzen

Background Velocardiofacial syndrome (VCFS) is a microdeletion syndrome caused by a 22q11.2 chromosomal deletion. Methods In this study, parents reported on their own temperament as well as the temperament of their child. Sixty-seven children with VCFS (mean age = 10.8, SD = 2.8; range 6–15), and age-, race- and gender-ratio matched samples of 47 community control participants (mean age = 10.4, SD = 2.6; range 6–15), and 18 sibling control participants (mean age = 12.1, SD = 1.9; range 9–15) took part in the current project. Results Children with VCFS have a temperament that may best be described as modestly …


Velopharyngeal Insufficiency: Diagnosis And Management, Robert Shprintzen, Eileen Marrinan Dec 2015

Velopharyngeal Insufficiency: Diagnosis And Management, Robert Shprintzen, Eileen Marrinan

Robert J. Shprintzen

Journal articles relevant to the diagnosis and treatment of velopharyngeal insufficiency were reviewed. All studies ascertained by PubMed search were included. Recent findings: Studies reported on the application of magnetic resonance scanning, reliability tests of the International Working Group diagnostic protocol, the use of nasometry, and techniques designed to assess the function of the velopharyngeal mechanism. Treatment studies focused on outcomes in small samples of cases and complication rates from pharyngeal flap. One study discussed ineffective speech therapy procedures. Summary: There were relatively few studies this past year. Those that were published were hindered by small and heterogeneous sample sizes …


Cognitive And Psychiatric Predictors To Psychosis In Velocardiofacial Syndrome: A 3-Year Follow-Up Study, Kevin Antshel, Robert Shprintzen, Wanda Fremont, Anne Higgins, Stephen Faraone, Wendy Kates Dec 2015

Cognitive And Psychiatric Predictors To Psychosis In Velocardiofacial Syndrome: A 3-Year Follow-Up Study, Kevin Antshel, Robert Shprintzen, Wanda Fremont, Anne Higgins, Stephen Faraone, Wendy Kates

Robert J. Shprintzen

Objective: To predict prodromal psychosis in adolescents with velocardiofacial syndrome (VCFS). Method: 70 youth with VCFS, 27 siblings of youth with VCFS and 25 community controls were followed from childhood (Mean age = 11.8 years) into mid-adolescence (mean age 15.0 years). Psychological tests measuring intelligence, academic achievement, learning/memory, attention and executive functioning as well as measures of parent and clinician ratings of child psychiatric functioning were completed at both time point. Results: Major depressive disorder, oppositional defiant disorder, and generalized anxiety disorder diagnoses increased in the VCFS sample. With very low false positive rates, the best predictor of adolescent prodromal …


Signs Of Friendship, Ashley N. Brickner, Kaylee J. Kapalko Dec 2015

Signs Of Friendship, Ashley N. Brickner, Kaylee J. Kapalko

Honors Projects

This children's book is about mainstreaming a deaf student into a public school composed of predominantly hearing children, and the eventual friendship between that student and a hearing student. The majority of deaf students are educated in hearing schools and experience high rates of social isolation as a result of the inability to communicate with their peers. In order to create this book, there was collaboration between a communication disorders major and a creative writing major in order to create a realistic portrayal yet creative learning tool for children at a young age. We chose to aim our book at …


Signs Of Friendship, Kaylee J. Kapalko, Ashley N. Brickner Dec 2015

Signs Of Friendship, Kaylee J. Kapalko, Ashley N. Brickner

Honors Projects

This children's book is about mainstreaming a deaf student into a public school composed of predominantly hearing children, and the eventual friendship between that student and a hearing student. The majority of deaf students are educated in hearing schools and experience high rates of social isolation as a result of the inability to communicate with their peers. In order to create this book, there was collaboration between a communication disorders major and a creative writing major in order to create a realistic portrayal yet creative learning tool for children at a young age. We chose to aim our book at …


December 2, 2015, Communication Disorders & Sciences Dec 2015

December 2, 2015, Communication Disorders & Sciences

Faculty Meeting Minutes & Agendas

Meeting minutes of the December 2, 2015 Faculty Committee meeting.


Incorporating A Robot In Intervention With Children With Asd: The Effect On Tantrum Behaviors, Tayler Bodon Whitmer Dec 2015

Incorporating A Robot In Intervention With Children With Asd: The Effect On Tantrum Behaviors, Tayler Bodon Whitmer

Theses and Dissertations

This study examined the effect of intervention involving a humanoid robot on challenging or tantrum behaviors of four children with low-functioning autism spectrum disorders (ASD). The current work was part of a larger study involving the effect of the robot on functional communication skills on a variety of different interactions with different communication partners. All participants took part in a single-subject, multiple-baseline design with various session types including baseline, traditional play-based treatment, treatment including the robot, and follow-up sessions. For the purpose of this study, only the sessions including treatment with the robot where the robot interaction occurred at the …


Flow Experiences Among Individuals With Aphasia, Thomas W. Sather Dec 2015

Flow Experiences Among Individuals With Aphasia, Thomas W. Sather

Dissertations

Flow has been described as positive experiences of intense concentration, distorted time passage, and loss of self-consciousness. While flow has been reported for multiple populations in various settings, it has not been studied among individuals with aphasia. The purpose of this three paper dissertation is to examine flow experiences among individuals with mild aphasia, including environmental and personal factors associated with flow. Advocates of life participation approaches to aphasia stress the importance of interventions that support full engagement in life. Research on flow experiences and related environmental and personal factors may foster improved service delivery and outcomes for this population. …