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Department of Pediatrics Faculty Papers

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A Diagnostic Dilemma Of Antiglutamic Acid Decarboxylase 65 (Anti-Gad 65) And Mycoplasma Pneumoniae Antibodies In A Girl Presenting With Acute-Onset Obsessive-Compulsive Disorder., Cecilia Freeman, Antanoid J Langeveldt, Robyn R Miller Mar 2021

A Diagnostic Dilemma Of Antiglutamic Acid Decarboxylase 65 (Anti-Gad 65) And Mycoplasma Pneumoniae Antibodies In A Girl Presenting With Acute-Onset Obsessive-Compulsive Disorder., Cecilia Freeman, Antanoid J Langeveldt, Robyn R Miller

Department of Pediatrics Faculty Papers

Acute-onset obsessive-compulsive disorder can be challenging, especially when triggered by an underlying disease process. Clinicians often turn to Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS), but it is important to consider a broad differential in these patients. We present a case of a 9-year-old girl with acute-onset obsessive-compulsive behavior likely triggered by a post-infectious phenomenon that ultimately resolved following treatment with plasmapheresis.


A Turner Syndrome Neurocognitive Phenotype Maps To Xp22.3., Andrew R Zinn, David Roeltgen, Gerry Stefanatos, Purita Ramos, Frederick F Elder, Harvey Kushner, Karen Kowal, Judith L Ross Jan 2007

A Turner Syndrome Neurocognitive Phenotype Maps To Xp22.3., Andrew R Zinn, David Roeltgen, Gerry Stefanatos, Purita Ramos, Frederick F Elder, Harvey Kushner, Karen Kowal, Judith L Ross

Department of Pediatrics Faculty Papers

BACKGROUND: Turner syndrome (TS) is associated with a neurocognitive phenotype that includes selective nonverbal deficits, e.g., impaired visual-spatial abilities. We previously reported evidence that this phenotype results from haploinsufficiency of one or more genes on distal Xp. This inference was based on genotype/phenotype comparisons of individual girls and women with partial Xp deletions, with the neurocognitive phenotype considered a dichotomous trait. We sought to confirm our findings in a large cohort (n = 47) of adult women with partial deletions of Xp or Xq, enriched for subjects with distal Xp deletions. METHODS: Subjects were recruited from North American genetics and …