Abstract

It is the objective of this project to study the development of behavior and language in children with inborn errors of metabolism. A major focus will be on patients with galactosemia, maple syrup urine disease, and organic acidemia, but a full spectrum of children with metabolic disease will be studied. Each patient will be defined as fully from the metabolic point of view as current methodology permits. Where available, therapeutic interventions will permit studies before and after therapy. Each patient will be studied in the Neurologic Core and by magnetic resonance imaging of the brain. Behavioral studies will focus on cognitive development and the acquisition of language. Another goal of this research will be to continue to monitor infants and children entered into other studies in the Center for the presence of metabolic disease. This will be accomplished by the study of the urine with a battery of screening tests, as well as quantitative analysis of amino acids and organic acids.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center (P50)
Project #
5P50NS022343-10
Application #
3738383
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
10
Fiscal Year
1995
Total Cost
Indirect Cost

  Institution

Name
University of California San Diego
Department
Type
DUNS #
077758407
City
La Jolla
State
CA
Country
United States
Zip Code
92093

  Publications

Ng, Rowena; Lai, Philip; Brown, Timothy T et al. (2018) Neuroanatomical correlates of emotion-processing in children with unilateral brain lesion: A preliminary study of limbic system organization. Soc Neurosci 13:688-700
Stiles, Joan (2017) Principles of brain development. Wiley Interdiscip Rev Cogn Sci 8:
Jernigan, Terry L; Stiles, Joan (2017) Construction of the human forebrain. Wiley Interdiscip Rev Cogn Sci 8:
Fan, Chun Chieh; Brown, Timothy T; Bartsch, Hauke et al. (2017) Williams syndrome-specific neuroanatomical profile and its associations with behavioral features. Neuroimage Clin 15:343-347
Ng, Rowena; Brown, Timothy T; Järvinen, Anna M et al. (2016) Structural integrity of the limbic-prefrontal connection: Neuropathological correlates of anxiety in Williams syndrome. Soc Neurosci 11:187-92
Ng, Rowena; Brown, Timothy T; Erhart, Matthew et al. (2016) Morphological differences in the mirror neuron system in Williams syndrome. Soc Neurosci 11:277-88
Lai, Philip T; Reilly, Judy S (2015) Language and affective facial expression in children with perinatal stroke. Brain Lang 147:85-95
Webb, Sara Jane; Bernier, Raphael; Henderson, Heather A et al. (2015) Guidelines and best practices for electrophysiological data collection, analysis and reporting in autism. J Autism Dev Disord 45:425-43
Yousefian, Omid; Ballantyne, Angela O; Doo, Alex et al. (2015) Clock drawing in children with perinatal stroke. Pediatr Neurol 52:592-8
Polse, Lara R; Reilly, Judy S (2015) Orthographic and semantic processing in young readers. J Res Read 38:47-72

Showing the most recent 10 out of 166 publications