Research Topics
Species | Vandana ShashiSummaryAffiliation: Duke University Medical Center Country: USA Publications
Research Grants
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Detail Information
Publications
Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphismsVandana Shashi
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
Eur J Hum Genet 20:1051-7. 2012..These findings indicate that alterations in the CC volume in children with 22q11DS are associated with cognition and specific genotypes in the 22q11.2 interval...
Social skills and associated psychopathology in children with chromosome 22q11.2 deletion syndrome: implications for interventionsV Shashi
Pediatric Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
J Intellect Disabil Res 56:865-78. 2012..Although distinctive neuropsychological impairments have been delineated in children with chromosome 22q11 deletion syndrome (22q11DS), social skills and social cognition remain less well-characterised...
Altered development of the dorsolateral prefrontal cortex in chromosome 22q11.2 deletion syndrome: an in vivo proton spectroscopy studyVandana Shashi
Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA
Biol Psychiatry 72:684-91. 2012..However, studies have not characterized any possible metabolite alterations within the DLPFC of children with 22q11DS and their correlations with the psychological findings...
Socioeconomic status and psychological function in children with chromosome 22q11.2 deletion syndrome: implications for genetic counselingVandana Shashi
Department of Pediatrics, Division of Medical Genetics, Duke University Health Sciences, Durham, NC, USA
J Genet Couns 19:535-44. 2010..As such, genetic counseling for families with 22q11DS may include consideration of family resources and inclusion of other health professionals, such as social workers, to explore with the family available social supports and resources...
COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndromeVandana Shashi
Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, North Carolina 27710, USA
Psychiatry Res 178:433-6. 2010..The Val allele was associated with poor IQ, processing speed, executive function and a higher frequency of anxiety disorders, underscoring the importance of the COMT gene in the childhood psychopathology in 22q11DS...
Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndromeVandana Shashi
Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA
Psychiatry Res 181:1-8. 2010..The correlation of these volumetric reductions with poor neurocognition indicates that these brain regions may mediate higher neurocognitive functions implicated in schizophrenia...
Abnormalities of the corpus callosum in nonpsychotic children with chromosome 22q11 deletion syndromeVandana Shashi
Department of Pediatrics, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
Neuroimage 21:1399-406. 2004..Further longitudinal studies on these children will help determine which of these structural abnormalities is/are pertinent to the development of psychosis...
The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndromeAravindhan Veerapandiyan
Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, North Carlolina 27710, USA
Laryngoscope 121:732-7. 2011..To report our experience with cephalometry in evaluating velopharyngeal dysfunction (VPD) in velocardiofacial syndrome (VCFS) and its utility in assessing the role of cervical spine abnormalities in VPD, prior to surgical correction of VPD...
Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutationAravindhan Veerapandiyan
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27712, USA
Eur J Med Genet 54:63-6. 2011..2 deletion syndrome and a BRCA2 mutation. Further cases with a similar presentation should be reported and studies should be directed to identify the possible mechanisms involved...
Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challengeAravindhan Veerapandiyan
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
Am J Med Genet A 155:2186-95. 2011..Therefore, a high index of suspicion is needed to recognize 22q11DS in African-American individuals...
A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndromeStephen R Hooper
Department of Psychiatry and the Carolina Institute for Developmental Disabilities, University of North Carolina School of Medicine, CB 7255, Chapel Hill, NC 27599 7255, USA Department of Pediatrics, Duke University Medical School, GSRB1 Box 103857, 595 LaSalle St, Durham, NC 27710, USA
Res Dev Disabil 34:1758-69. 2013..These findings begin to elucidate the trajectory of changes in psychopathology in children with 22q11DS in the years leading up to the onset of major psychiatric illnesses...
Assessment of parental disclosure of a 22q11.2 deletion syndrome diagnosis and implications for cliniciansDana Faux
Genetic Counseling Program, University of North Carolina at Greensboro, Greensboro, NC, USA
J Genet Couns 21:835-44. 2012..Our results demonstrate that genetics professionals should help prepare caregivers for conversations with their children about the diagnosis of 22q11DS, monitor the understanding of the diagnosis over time, and provide ongoing support...
Clinical application of exome sequencing in undiagnosed genetic conditionsAnna C Need
Center for Human Genome Variation, Duke University School of Medicine, Box 91009, Durham, NC 27708, USA
J Med Genet 49:353-61. 2012....
Vasomotor instability in neonates with chromosome 22q11 deletion syndromeVandana Shashi
Department of Pediatrics, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
Am J Med Genet A 121:231-4. 2003..This could have implications for the surgical management of patients with 22q11DS. Further studies on this topic would establish or refute the association between 22q11DS and dysautonomia...
Vincristine-induced neuropathy as the initial presentation of charcot-marie-tooth disease in acute lymphoblastic leukemia: a Pediatric Oncology Group studyAllen R Chauvenet
Department of Pediatrics, Wake Forest University, Winston Salem, North Carolina 27157 1081, USA
J Pediatr Hematol Oncol 25:316-20. 2003..The goal was to provide preliminary information about patients with undiagnosed CMT who develop ALL...
Research Grants
- Risk Factors for Psychosis in Chromosome 22q11 Deletion SyndromeVandana Shashi; Fiscal Year: 2010..2 region in children with 22q11 DS, a genetic condition with a high risk of schizophrenia, to understand the factors that play a role in this severe mental illness. ..
