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Robyn Filipink, MD

  • Associate Professor

Administrative Assistant: Cleo Harmonson

Robyn Filipink is a Clinical Associate Professor in the Department of Pediatrics at the University of Pittsburgh School of Medicine. After completing medical school at the State University of New York at Buffalo School of Medicine and Biological Sciences, she completed her residency in Pediatrics and Neurodevelopmental Disabilities (NDD) at UPMC Children’s Hospital of Pittsburgh and started her faculty position at Children’s. Dr. Filipink’s certifications are in Pediatrics, Neurology with Special Qualifications in Child Neurology and Neuro Developmental Disabilities. She was awarded the UPMC Children’s Hospital of Pittsburgh, Department of Pediatrics Junior Clinician Award during her first year on faculty.

Filipink is the Director of the Movement Disorders clinic and the Tourette syndrome clinic. She evaluates, educates and treats patients with a range of symptomsincluding tics, chorea, tremor, ataxia, dystonia, Parkinsonism and related genetic neurodegenerative disorders. Her expertise in NDD expands her care to patients with Autism Spectrum Disorder, neurodegenerative disorders and genetic syndromes. Filipink is the Director of the Fragile X Center. She provides initial evaluations, referrals and long term follow up to children, adults and their families who have Fragile X syndrome and Fragile X Associated syndromes. This clinic participates in the Fragile X Clinical and Research Consortium.

Professional and Scientific Society Memberships

  • American Academy of Neurology, 2005-Present 
  • Child Neurology Society, 2006-Present 

Clinical Appointments

  • Clinical Director, Child Development Unit, UPMC Children's Hospital of Pittsburgh, 2020-Present
  • Director, Movement Disorder Clinic, UPMC Children's Hospital of Pittsburgh, 2013-Present
  • Director, Tourette Synrome Clinic, UPMC Children's Hospital of Pittsburgh, 2013-Present
  • Director, Fragile X Syndrome Center, UPMC Children's Hospital of Pittsburgh, 2010-Present
  • Director, Tourette Syndrome Clinic, UPMC Children's Hospital of Pittsburgh, 2008-2013

National Service

  • CASK Gene Foundation, Medical and Scientific Advisory Board Member, 2022-Present
  • Fragile X Online Registry With Accessible Research Database, Seizure Guideline Committee Member, 2021
  • International Down Syndrome Database group member, 2020-Present

Education & Training

  • BS, Biology, Canisius College, 1998
  • MD, State University of New York School of Medicine and Biological Sciences, 2002
  • Residency in Pediatrics, UPMC Children’s Hospital of Pittsburgh, 2002-2004
  • Residency in Child Neurology, UPMC Children’s Hospital of Pittsburgh, 2004-2008

Selected Publications

Liao J, Coffman KA, Locker J, Padiath QS, Nmezi B, Filipink RA, Hu J, Sathanoori M, Madan-Khetarpal S, McGuire M, Schreiber A, Moran R, Friedman N, Hoffner L, Rajkovic A, Yatsenko SA, Surti U. Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea. Mol Genet Genomic Med. 2021 Apr;9(4):e1647. doi: 10.1002/mgg3.1647. Epub 2021 Mar 5. PMID: 33666368; PMCID: PMC8123744.

Berry-Kravis E, Filipink RA, Frye RE, Golla S, Morris SM, Andrews H, Choo TH, Kaufmann WE; FORWARD Consortium. Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large Clinic-Based Cohort. Front Pediatr. 2021 Dec 30;9:736255. doi: 10.3389/fped.2021.736255. PMID: 35036394; PMCID: PMC8756611.

Santoro JD, Patel L, Kammeyer R, Filipink RA, Gombolay GY, Cardinale KM, Real de Asua D, Zaman S, Santoro SL, Marzouk SM, Khoshnood M. Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus. Frontiers in Neurology. 2022:1508.

Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, Siefkas K, Ball S, Shur N, McGuire M, Brasington CK, Spence JE, Martin LS, Clericuzio C, Ballif BC, Shaffer LG, Eichler EE (2012) Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med. 367 (14): 1321–1331. 

Loma IP, Asato MR, Filipink RA, Alper G (2008) Neuromyelitis optica in a young child with positive serum autoantibody. Pediatr Neurol. 39 (3): 209–212. 

Winter JC, Filipink RA, Timineri D, Helsley SE, Rabin RA (2000) The paradox of 5-methoxy-N,N-dimethyltryptamine: An indoleamine hallucinogen that induces stimulus control via 5-HT1A receptors. Pharmacol Biochem Behav. 65 (1): 75–82. 

Academic and Research Interests

  • Fragile X Syndrome
  • Deep Brain Stimulation
  • Autism Spectrum Disorder