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Dr. Rosario R. Trifiletti, MD PhD

2023 Presentation(s):

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One major problem confronting many parents of autistic children face is a delay in diagnosis. Improvements in education regarding the “early signs of autism” have allowed many parents to correctly predict an autism diagnosis in their child before the age of 18 months. However, the CDC reports that 85% of parents have had concerns before age 3. Unfortunately, the CDC also reports that almost 60% of children with autism do not receive a “diagnostic” developmental evaluation before age three, and 40% wait until age four or later. This “logistics delay” has many causes, but the overburdening of the child mental health system by COVID-19-related issues has been a significant contributor in the past three years. We propose a strategy to proceed from parental suspicion to precision diagnosis in less than six months. As soon as parents suspect autism in their child, the child is evaluated by a child neurologist with the capacity to see the child promptly. Then, a complete evaluation for PANDAS/PANS and next-generation whole-exome sequence is performed. There is evidence from my practice that PANDAS/PANS may eventually complicate autism in over 30% of parents (as compared to 1-2% in neurotypical children), which can lead to immediate treatment implications. With a proprietary deep analysis protocol (utilizing bootstrapping and AI), genetic testing can detect mutant genes with high likelihood. A genetic likelihood can be determined by leveraging an extensive internal database of parents with PANS and PDD-PANS. Those parents with PANS and/or high genetic likelihood are fast-tracked for a formal evaluation by standard clinical measures. The entire program can be performed cost- and, most importantly, time- efficiently; the program will answer the following questions: 1) does my child likely have autism (and if so, what is the cause); 2) Could PANDAS/PANS be playing a role for my child’s symptoms? Rapid answers to both of these questions will help guide early rational biomedical treatment strategies customized for each child – rather than the generic protocols currently in use. Examples of cases analyzed by this “early PANS/deep genetic protocol” will be presented. “Customized treatment” which arises from the findings will be presented.
Speaker Bio:

Dr. Trifiletti received his MD and Ph.D. (Pharmacology and Experimental Therapeu/cs) from the Johns Hopkins University School of Medicine in 1986. He did his Child Neurology fellowship at the Neurological Ins/tute of New York, followed by full-/me laboratory research at Columbia and Cornell University School of Medicine. At Cornell, in 1998, he first heard about the very new condi/on called “PANDAS” from a close collaborator of Dr. Susan Swedo and spent the next 25 years of his career studying the condi/on, since renamed PANDAS/PANS in 2013. During this period, he also served as Chief of Child Neurology and co-director of the Au/sm Center of NJ at UMDNJ-Newark. He has been in private prac/ce since 2009 and directs the PANDAS/PANS Ins/tute in Westwood, NJ. Dr. Trifilef is recognized as one of the pioneers in the field of PANDAS/PANS, having seen over 5,000 pa/ents with this condi/on over the last 25 years. Most recently, he has been deeply involved in the clinical gene/cs of PANDAS/PANS and led a landmark study, published in Nature in July 2022, repor/ng the first genes associated with PANDAS/PANS risk. Dr. Trifilef’s interest in PANDAS/PANS has stemmed, in part, from his recogni/on, made several years ago, of its close rela/onship to rapid-onset au/sm.

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