Maria T. Acosta

National Human Genome Research Institute

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Co-Authors

Cynthia J. Tifft

National Human Genome Research Institute

Ellen F. Macnamara

National Institutes of Health

William A. Gahl

National Human Genome Research Institute

Lynne A. Wolfe

National Institutes of Health

Camilo Toro

National Institutes of Health

Gerard T. Berry

Boston Children's Hospital

Daniel Wegner

Radboud University Nijmegen

Donna Novacic

National Institutes of Health

James P. Orengo

Baylor College of Medicine

Daryl A. Scott

Baylor College of Medicine

Cooperative Institutions

National Institutes of Health

287

University of California System

237

Baylor College of Medicine

204

Harvard University

203

National Human Genome Research Institute

168

University College London

168

Boston Children's Hospital

167

University of California, San Francisco

151

University of Washington

128

Stanford University

112

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Computerized Working Memory Training for Children With Neurofibromatosis Type 1 (NF1): A Pilot Study

Journal of Child Neurology (2021)

Kristina K. Hardy Carly Berger Danielle Griffin Karin S. Walsh Christina Sharkey

The present study aimed to evaluate the feasibility and efficacy of CogmedRM, a computerized, home-based working memory (WM) training program, in children with NF1.A pre-post design was used to evaluate changes in performance-based measures of attention and WM, and parent-completed ratings of executive functioning. Children meeting eligibility criteria completed CogmedRM over 9 weeks. Primary outcomes included compliance statistics and change in attention and WM scores.Thirty-one children (52% male; M age = 10.97 ± 2.51), aged 8-15, were screened for participation; 27 children (87%) evidenced WM difficulties and participated in CogmedRM training. On average, participants completed 19.7 out of 25 prescribed sessions, with an adherence rate of 69%. Participants demonstrated improvements in short-term memory, attention, and executive functioning (all Ps < .05).Results suggest that computerized, home-based WM training programs may be both feasible and efficacious for children with NF1 and cognitive deficits.

Working memory training

10.1177/08830738211038083

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Citations (5)

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Genetics in Medicine (2023)

Vandana Shashi Kelly Schoch Rebecca Ganetzky Peter G. Kranz Neal Sondheimer

Etiology

Proband

Penetrance

Compound heterozygosity

10.1016/j.gim.2023.100897

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Citations (5)

W64. FAMILY BASED ASSOCIATION AND LINKAGE ANALYSES OF FAMILIAL ADHD

European Neuropsychopharmacology (2023)

Cristina M. Justice Kwangmi Ahn Benjamin Jung Luke Norman Gustavo Sudre

Nuclear family

Linkage (software)

Genetic linkage

Genome-wide Association Study

SNP

Genetic Association

10.1016/j.euroneuro.2023.08.252

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Citations (0)

Hipotiroidismo primario como causa de pubertad precoz e hiperplasia hipofisiaria

Maria T. Acosta Teresa Ortiz Eugenia Espinosa

Source

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Citations (0)

Lovastatin regulates brain spontaneous low-frequency brain activity in Neurofibromatosis type 1

Neuroscience Letters (2012)

Camille Chabernaud Maarten Mennes P. Kardel William D. Gaillard M. Layne Kalbfleisch

Lovastatin

Cingulate cortex

Posterior cingulate

Orbitofrontal cortex

10.1016/j.neulet.2012.03.009

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Citations (49)

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Genetics in Medicine (2021)

Felix Marbach Georgi Stoyanov Florian Erger Constantine A. Stratakis Nikolaos Settas

We characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder who carry heterozygous missense variants of the PRKAR1B gene, which encodes the R1β subunit of the cyclic AMP-dependent protein kinase A (PKA).

Neurodevelopmental disorder

10.1038/s41436-021-01152-7

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Citations (15)

Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery

Birth Defects Research (2019)

Paul Kruszka Ashley Buscetta Maria T. Acosta Nicole Banks Yonit A. Addissie

Turner syndrome (TS) is the most common sex chromosome disorder in women and is associated with a higher than expected death rate secondary to cerebrovascular disease, including stroke. This study evaluates the cerebral vascular anatomy of individuals with TS.Twenty-one women with TS had brain magnetic resonance angiography (MRA). These MRAs were evaluated in a blinded manner with a control group of 25 men and 25 women who had MRA imaging for multiple indications including migraine headaches, psychiatric disorders, and seizures.Twenty-nine percent of women with TS were missing an A1 segment of the anterior cerebral artery (ACA) compared to 0% in the control group (p < .001). There were no other significant differences in the circle of Willis (COW) in women with TS compared with the control group. A complete COW was found in 3 of 21 (14%) of women with TS and 12 of 47 (26%) controls (p = .36).Women with TS have a significantly different intracranial vascular anatomy, specifically the absence of the A1 segment of the ACA when compared to male and female controls. More research in brain imaging in women with TS and stroke and other cerebrovascular diseases is needed to determine the clinical significance of this anomaly.

Circle of Willis

Anterior cerebral artery

Magnetic resonance angiography

Stroke

10.1002/bdr2.1609

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Citations (3)

Supplement 1 from Germline and Somatic NF1 Alterations Are Linked to Increased HER2 Expression in Breast Cancer

Xia Wang Roope A. Kallionpää Patrick R. Gonzales Dhananjay Chitale Renee N. Tousignant

IHC Validation

10.1158/1940-6207.22533695.v1

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