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Transforming the understanding
and treatment of mental illnesses.

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Research Topics

Through the Neurodevelopmental and Behavioral Phenotyping Service, Dr. Thurm’s research interests focus on evaluating and improving upon diagnostic and cognitive assessment instrumentation through longitudinal studies of risk and characterization of neurodevelopmental disorders. In addition to studying the prodromal and post-diagnostic characterization of idiopathic autism spectrum disorder (ASD), studies also focus on phenotypic explorations of genetic disorders associated with Intellectual Disability and ASD. A goal of this research is to improve instrumentation to allow for more finely-tuned developmental assessments that distinguish various phenotype-genotype relationships and serve as useful treatment outcome measures. Using team science, Dr. Thurm works on both extremely rare genetic conditions as well as more common conditions, as findings from each inform the other. 

In addition to serving as associate investigator on a variety of natural history and treatment studies of rare and undiagnosed genetic conditions in the intramural research program (through institutes that include NIMH, NICHD, NHGRI & NHLBI) and roles on several extramurally funded grants, Dr. Thurm is Principal Investigator on NIMH protocol 06-M-0065 , The Neurodevelopmental and Behavioral Phenotyping Screening Protocol and protocol 15-M-0139 , Mapping the Genotype, Phenotype and Natural History of Phelan-McDermid Syndrome, a study to learn more about the medical, behavioral and cognitive features of Phelan-McDermid Syndrome that is part of the RDCRN Developmental Synaptopathies Consortium .


Dr. Audrey Thurm, Ph.D. received training at DePaul University and Boston Children's Hospital/Harvard Medical School, and conducted a post-doctoral fellowship at Johns Hopkins School of Medicine. She has been at NIMH since 2002, serving in the extramural program until 2006, as chief of both the Autism and Social Behavior Program, and the Compulsive Repetitive Behaviors Program. In 2006 she moved to the intramural program to help launch the autism research program. She has expertise in longitudinal studies and an interest in markers of the early diagnosis of autism as well as genetic conditions associated with neurodevelopmental disorders.

Selected Publications

Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries . Wickstrom, J., Farmer C., Snyder, L., Mitz, A.R., Sanders, S.J., Bishop, S., & Thurm, AJ Child Psychol Psychiatry. 2021Nov;62(11):1297-1307.doi: 10.1111/jcpp.13492 PMID: 34382689.

Outcome Measures for Core Symptoms of Intellectual Disability: State of the Field . Thurm A, Kelleher B, Wheeler A.. Am J Intellect Dev Disabil. 2020 Nov 1;125(6):418-433. doi: 10.1352/1944-7558-125.6.418 PMID: 33211819.

State of the Field: Differentiating Intellectual Disability From Autism Spectrum Disorder . Thurm A, Farmer C, Salzman E, Lord C, Bishop S.. Front Psychiatry. 2019;10:526. doi: 10.3389/fpsyt.2019.00526. eCollection 2019. Review. PMID: 31417436.

Loss of skills and onset patterns in neurodevelopmental disorders: Understanding the neurobiological mechanisms . Thurm A, Powell EM, Neul JL, Wagner A, Zwaigenbaum L. Autism Res. 2018 Feb;11(2):212-222. doi: 10.1002/aur.1903. Epub 2017 Dec 11. PMID: 29226600.

Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome . Soorya L, Leon J, Trelles MP, Thurm A. Clin Neuropsychol. 2017 Dec 21:1-30. doi: 10.1080/13854046.2017.1413211. [Epub ahead of print] PMID: 29265961.

Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder . Bishop SL, Farmer C, Bal V, Robinson EB, Willsey AJ, Werling DM, Havdahl KA, Sanders SJ, Thurm A. Am J Psychiatry. Am J Psychiatry. 2017 Jun 1;174(6):576-585. doi: 10.1176/appi.ajp.2017.16101115. Epub 2017 Mar 3. PMID: 28253736.

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