Abstract: Schizophrenia usually emerges in late adolescence or early adulthood. If cognitive deterioration occurs, it generally appears early and with relatively stable impairment over the next 5–10 years. Later in the illness, psychotic symptoms may become less intense, and there can be modest improvement in function later in life. Mr. E’s early development was abnormal and showed multiple indications of a genetic syndrome such as 22q11 deletion syndrome (22q11DS) (e.g., cleft palate, dysmorphic features, and developmental delay). Mr. E’s initial psychiatric presentation was consistent with idiopathic schizophrenia, but treatment resistance was notable. He subsequently developed profound dementia with a hyperkinetic movement disorder. Genetic analysis, clinical evaluation, and neuropathology provided definite diagnoses of 22q11 deletion syndrome and Huntington’s disease.
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The participant will recognize the emerging understanding of repeated base pairs in the human genome, which are termed “copy number variants,” and will identify how copy number variants in the genome relate to psychiatric conditions.
This program is designed for all psychiatrists in clinical practice, residents in Graduate Medical Education programs, medical students interested in psychiatry, and other physicians who wish to advance their current knowledge of clinical medicine.
Duration: 1 hour
Begin Date: May 1, 2018
End Date: April 30, 2020
In order to earn CME credit, subscribers should read through the material presented in the article. After reading the article, complete the quiz and submit your evaluation and study hours (up to 1 AMA PRA Category 1 Credit™). A score of 60% or higher is required to receive credit.
The American Psychiatric Association (APA) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
The APA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Title: Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington’s Disease
Authors: Martilias Farrell, Ph.D., Maya Lichtenstein, M.D., James J. Crowley, Ph.D., Dawn M. Filmyer, Ph.D., Gabriel Lázaro-Muñoz, J.D., Ph.D., Rita A. Shaughnessy, M.D., Ph.D., Ian R. Mackenzie, M.D., F.R.C.P.C., Veronica Hirsch-Reinshagen, M.D., Robert Stowe, M.D., James P. Evans, M.D., Ph.D., Jonathan S. Berg, M.D., Ph.D., Jin Szatkiewicz, Ph.D., Richard C. Josiassen, Ph.D., Patrick F. Sullivan, M.D., F.R.A.N.Z.C.P.
Affiliations: From the Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill (M.F., J.J.C., J.P.E., J.S.B., J.S., P.F.S.); the Department of Neurology, Geisinger Health System, Wilkes-Barre, Pa. (M.L.); Translational Neuroscience, Conshohocken, Pa. (D.M.F., R.C.J., R.A.S.); the Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston (G.L.-M.); the Department of Pathology and Laboratory Medicine and the Department of Psychiatry, University of British Columbia, Vancouver (I.R.M., V.H.-R., R.S.); and the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm (P.F.S.).
Disclosures: The authors report no financial relationships with commercial interests.
Discussion of unapproved or investigational use of products*: No.
*APA policy requires disclosure by CME authors of unapproved or investigational use of products discussed in CME programs. Off-label use of medications by individual physicians is permitted and common. Decisions about off-label use can be guided by scientific literature and clinical experience.
Robert Freedman, M.D. (Editor-in-Chief, AJP); Susan K. Schultz, M.D. (Deputy Editor, AJP); Michael D. Roy (Editorial Director, AJP); Michael A. Pogachar (Online Content Manager, Journals).
Dr. Schultz has received research support from the Alzheimer’s Disease Cooperative Study for projects conducted in partnership with Toyama Chemical Company and in partnership with Eli Lilly and Company. Dr. Freedman, Mr. Roy, and Mr. Pogachar report no financial relationships with commercial interests.
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