Publications by authors named "Pooja Vekaria"

3 Publications

  • Page 1 of 1

Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II.

Mol Genet Metab 2015 Feb 9;114(2):170-7. Epub 2014 Dec 9.

Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA. Electronic address:

Unlabelled: The phenotype of attenuated mucopolysaccharidosis type II (MPS II), also called Hunter syndrome, has not been previously studied in systematic manner. In contrast to the "severe" phenotype, the "attenuated" phenotype does not present with behavioral or cognitive impairment; however, the presence of mild behavior and cognitive impairment that might impact long-term functional outcomes is unknown. Previously, significant MRI abnormalities have been found in MPS II. Recent evidence suggests white matter abnormalities in many MPS disorders.

Methods: As the initial cross-sectional analysis of a longitudinal study, we studied the association of brain volumes and somatic disease burden with neuropsychological outcomes, including measures of intelligence, memory, and attention in 20 patients with attenuated MPS II with a mean age of 15.8. MRI volumes were compared to 55 normal controls.

Results: While IQ and memory were average, measures of attention were one standard deviation below the average range. Corpus callosum volumes were significantly different from age-matched controls, differing by 22%. Normal age-related volume increases in white matter were not seen in MPS II patients as they were in controls. Somatic disease burden and white matter and corpus callosum volumes were significantly associated with attention deficits. Neither age at evaluation nor age at starting treatment predicted attention outcomes.

Conclusions: Despite average intelligence, attention is compromised in attenuated MPS II. Results confirm an important role of corpus callosum and cortical white matter abnormality in MPS II as well as the somatic disease burden in contributing to attention difficulties. Awareness by the patient and caregivers with appropriate management and symptomatic support will benefit the attenuated MPS II patient.
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February 2015

Neuropsychological endophenotypes in ADHD with and without epilepsy.

Appl Neuropsychol Child 2012 3;1(2):121-8. Epub 2012 Aug 3.

Comprehensive Epilepsy Center, New York University, New York, NY 10016, USA.

Attention-deficit hyperactivity disorder (ADHD) is a frequent comorbidity in children with epilepsy. Despite similarities in behavioral manifestations of inattention and hyperactivity, it is unclear whether the neuropsychological endophenotypes of children with developmental ADHD differ from those with ADHD in the context of epilepsy. The present study compared groups of clinically referred children with both ADHD-Inattentive subtype (ADHD-I) and ADHD-Combined subtype (ADHD-C) to children with ADHD-I and ADHD-C and epilepsy on neuropsychological measures of intellectual functioning, auditory attention, working memory, and sustained attention and response inhibition. Those with ADHD and epilepsy performed more poorly on measures of intellectual function (e.g., Full-Scale IQ, Verbal IQ, Performance IQ) as well as auditory attention and working memory. Differences across the groups were also seen on a continuous performance test. Follow-up correlational analyses showed that variables such as seizure frequency and number of antiepilepsy medications predicted cognitive dysfunction in the epilepsy groups. Overall results suggest that the neuropsychological endophenotypes in developmental ADHD versus ADHD in epilepsy differ with seizure-related variables predicting cognitive dysfunction.
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September 2013

Maternal substance use and HIV status: adolescent risk and resilience.

J Adolesc 2008 Jun 20;31(3):389-405. Epub 2007 Aug 20.

The Center for Drug Use and HIV Research, Institute for AIDS Research, National Development and Research Institutes, Inc., 71 West 23rd Street, 8th Floor, New York, NY 10010, USA.

We examined the risk and protective factors and mental health problems of 105 low SES, urban adolescents whose mothers were coping with alcohol abuse and other drug problems. Approximately half of the mothers were also HIV-infected. As hypothesized, there were few differences between adolescents of HIV-infected and HIV-uninfected mothers in background characteristics, mental health issues and current substance use risk behaviors. In addition to maternal substance abuse, youth in both groups experienced similar risk factors including early foster care placement and high levels of maltreatment. Current patterns of emerging risk behaviors were evident among youth in both groups as well as signs of resiliency including high levels of school attendance. These results underscore the importance of interventions for youth of substance abusing mothers, particularly those living in urban poverty.
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June 2008