In this Clinical Grand Rounds, we will describe the clinical phenomenon of Phelan-McDermid Neuropsychiatric Regression using a live family and patient interview and examination.  We will present what is known about this phenomenon, by briefly reviewing the literature and discussing current clinical treatment using our case example.  We will then explore the underlying developmental pathophysiology of Phelan-McDermid Neuropsychiatric Regression, which involves the clinical manifestation of haploinsufficiency of the SHANK3 gene.  To do this, animal models of abnormalities in SHANK3 will be presented, and we will discuss how these models might guide the development of future therapies.

Date & Time. February 21, 2020 from 12:00pm to 1:30pm

Location. UPMC Western Psychiatric Hospital Auditorium

Learning Objectives. At the conclusion of this lecture, participants will be able to:

1. Describe the clinical characteristics of Phelan-McDermid Syndrome as a genetic form of autism spectrum disorder, involving abnormalities in the SHANK3 gene.

2. Using a live clinical interview and examination, present a clinical case of the history and findings of Phelan-McDermid Syndrome neuropsychiatric decompensation and discuss its diagnosis and treatment, including the identification of catatonia and treatment with maintenance ECT.

3. Present the developmental pathophysiology of mutations in the SHANK3 gene as a cause of Phelan-McDermid Developmental Regression and as a potential site of therapeutic intervention.

For More Information.  Please contact Frances Patrick at patrickfm@upmc.edu.

The entirety of this program will be a lecture by the speaker(s). All individuals able to control the content of this educational activity are required to disclose all relevant financial relationships with any proprietary entity producing, marketing, re-selling, or distributing health care goods or services, used on, or consumed by, patients. Registration is not required for this event. This event is free and there will be no refunds. The University of Pittsburgh is an affirmative action, equal opportunity institution.

Continuing Education Credit:  The University of Pittsburgh School of Medicine is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.  The University of Pittsburgh School of Medicine designates this educational activity for a maximum of 1.5 AMA PRA Category 1 Credits^TM. Each physician should only claim credit commensurate with the extent of their participation in the activity.  Other health care professionals are awarded .15 continuing education units (CEUs), which are equal to 1.5 contact hours.  In accordance with Accreditation Council for Continuing Medical Education requirements on disclosure, information about relationships of presenters with commercial interests (if any) will be included in materials which will be distributed at the time of the conference.  WPH is approved by the American Psychological Association to offer continuing education for psychologists. WPH maintains responsibility for this program and its contents.  This program is being offered for 1.5 continuing education credits.

The indicated number of clock hours of continuing education is provided through UPMC Western Psychiatric Hospital's Office of Educational Resources and Planning, a PA-approved provider of social work continuing education in accordance with all the applicable educational and professional standards of the Pennsylvania State Board of Social Workers, Marriage and Family Therapist.  These clock hours satisfy requirements for LSW/LCSW, LPC and LMFT renewal. For more information, call (412) 204-9085.