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2015

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Full-Text Articles in Medicine and Health Sciences

Shifting The Load: Improving Bioscience Performance In Undergraduate Nurses Through Student Focused Learning, Angela Owens, Tracey Moroney May 2016

Shifting The Load: Improving Bioscience Performance In Undergraduate Nurses Through Student Focused Learning, Angela Owens, Tracey Moroney

Angela Owens

Background
Bioscience has a long history of being challenging to teach and learn within nursing courses and little has been published on new ways to assist students in their learning. The aim of this study was to determine which of three different interventions would assist student performance in a nursing bioscience unit.
Method
To begin, the contribution of recent prior learning in science was investigated by comparing the final exam marks of 182 students in the bioscience unit with the science marks they achieved at high (secondary) school. The effect of recent prior learning was then tested by investigating whether …


Is Caffeine A Public Health Issue?, Jody Vogelzang Dec 2015

Is Caffeine A Public Health Issue?, Jody Vogelzang

Jody L Vogelzang PhD, RDN, FAND, CHES

Caffeine consumption is ubiquitous with greater than 50% of the adult U.S. population consuming
coffee on a regular basis. Although deaths in the United States related directly to
caffeine overdose is small, hospitals are reporting a surge in caffeine overdoses presenting in the
emergency department. From January 1 to July 31, 2015, poison centers logged 1,675 reports
involving highly caffeinated energy drinks. Almost two- thirds of these incidents involved children
18 years or younger.4 The availability of caffeine in liquid and solid forms makes caffeine-
related risks a public health concern. 


Changes In Gut And Plasma Microbiome Following Exercise Challenge In Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (Me/Cfs), Sanjay K. Shukla, Dane B. Cook, Jacob Meyer, Suzanne D. Vernon, Thảo Lê, Derek Clevidence, Charles E. Robertson, Steven J. Schrodi, Steven Yale, Daniel N. Frank Dec 2015

Changes In Gut And Plasma Microbiome Following Exercise Challenge In Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (Me/Cfs), Sanjay K. Shukla, Dane B. Cook, Jacob Meyer, Suzanne D. Vernon, Thảo Lê, Derek Clevidence, Charles E. Robertson, Steven J. Schrodi, Steven Yale, Daniel N. Frank

Jacob Meyer

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a disease characterized by intense and debilitating fatigue not due to physical activity that has persisted for at least 6 months, post-exertional malaise, unrefreshing sleep, and accompanied by a number of secondary symptoms, including sore throat, memory and concentration impairment, headache, and muscle/joint pain. In patients with post-exertional malaise, significant worsening of symptoms occurs following physical exertion and exercise challenge serves as a useful method for identifying biomarkers for exertion intolerance. . Evidence suggests that intestinal dysbiosis and systemic responses to gut microorganisms may play a role in the symptomology of ME/CFS. As such, …


Apa Obat Yang Bisa Gugurin Kandungan Secara Ampuh, Cara Aman Dec 2015

Apa Obat Yang Bisa Gugurin Kandungan Secara Ampuh, Cara Aman

cara aman

berikut ini macam macam obat aborsi yang bisa gugurin kandungan secara ampuh. dan juga ada beberapa tips untuk menggugurkan kandungan secara aman dan selamat.


Geographic Variation In The Implementation Of Public Health Services: Organizational, Economic, And Network Determinants, Glen P. Mays Dec 2015

Geographic Variation In The Implementation Of Public Health Services: Organizational, Economic, And Network Determinants, Glen P. Mays

Glen Mays

An expanding body of research-tested public health interventions exist to prevent disease and injury and promote health on a population-wide basis, such as those profiled in the CDC’s Guide to Community Prevention Services, but adoption and implementation of these strategies vary widely across states and communities. Public health services are delivered through diffuse constellations of governmental agencies and their private-sector and community-based counterparts using implementation mechanisms that are poorly understood. The studies in this panel examine how organizational, economic, and inter-organizational network characteristics influence the implementation of public health services across states and communities.


Inter-Organizational Network Effects On Public Health Service Implementation, Outcomes, And Disparities Across U.S. Communities, Glen P. Mays Dec 2015

Inter-Organizational Network Effects On Public Health Service Implementation, Outcomes, And Disparities Across U.S. Communities, Glen P. Mays

Glen Mays

Background: The Affordable Care Act created new incentives for hospitals, insurers, public health agencies, and others to contribute to disease prevention and health promotion activities, potentially changing inter-organizational relationships and expanding implementation of strategies that improve population health. This study uses data from the 1998-2014 National Longitudinal Survey of Public Health Systems to examine: (1) the extent and nature of change in inter-organizational contributions to public health activities; (2) whether network changes attenuate or exacerbate disparities in public health implementation across communities; and (3) how network changes affect preventable mortality and resource use.Methods: We follow a longitudinal cohort of 360 …


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 …


Academic Medicine As A Bridge To Peace: Building Arab And Israeli Cooperation, Abi Sriharan, Ziad Abdeen, Dennis Bojrab, Shurkri David, Ziad Elnasser, Tim Patterson, Robert Shprintzen, Harvey Skinner, Yehudah Roth, Arnold Noyek Dec 2015

Academic Medicine As A Bridge To Peace: Building Arab And Israeli Cooperation, Abi Sriharan, Ziad Abdeen, Dennis Bojrab, Shurkri David, Ziad Elnasser, Tim Patterson, Robert Shprintzen, Harvey Skinner, Yehudah Roth, Arnold Noyek

Robert J. Shprintzen

Can you imagine Canadian, Israeli, Jordanian, and Palestinian medical students singing, volunteering, and working together to develop programs to address issues related to global pediatric emergency medicine? Such a program was first held in Toronto in 2003 and continues annually. Can you imagine Canadians, Israelis, Jordanians, and Palestinians jointly teaching and developing solutions, via video teleconference, to address behavioral neurological problems affecting elderly populations? Such an initiative began in 2006 and continues to expand today. Can you imagine senior Jordanian and Israeli ear surgeons operating together, successfully carrying out pioneering cochlear implant surgery on deaf infants, on Jordanian national television? …


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 …


Associations Between Performance On The Rey-Osterrieth Complex Figure And Regional Brain Volumes In Children With And Without Velocardiofacial Syndrome, Kevin Antshel, Jena Peebles, Nuria Abdulsabur, Anne Marie Higgins, Nancy Roizen, Robert Shprintzen, Wanda Fremont, Robert Natasi, Wendy Kates Dec 2015

Associations Between Performance On The Rey-Osterrieth Complex Figure And Regional Brain Volumes In Children With And Without Velocardiofacial Syndrome, Kevin Antshel, Jena Peebles, Nuria Abdulsabur, Anne Marie Higgins, Nancy Roizen, Robert Shprintzen, Wanda Fremont, Robert Natasi, Wendy Kates

Robert J. Shprintzen

Ninety-two children with velocardiofacial syndrome (VCFS), a genetic disorder caused by a microdeletion of chromosome 22q11.2 and an age, race, and gender-ratio comparable sample of 59 control participants were included in the project. Participants received an MRI as well as a comprehensive neuropsychological battery; the primary outcome measure in the current report is the Rey-Osterrieth Complex Figure (ROCF). Children with VCFS performed less well on the ROCF and have lower whole brain volume compared to controls. After controlling for whole brain volume differences, children with VCFS have bilaterally less parietal lobe gray and white matter yet more frontal lobe white …


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 …