Causes and Consequences of Developmental Regression in ASD

Dr. Kochel has a longstanding interest in developmental regression—or the loss of previously acquired skills—in children with ASD. Her research on the topic is comprehensive in that she studies both the causes and consequences of regression. While there is no known cause for most cases of regression associated with ASD, it is likely that genetic mechanisms are involved. Toward this end, she examined whether mutations in select genes that facilitate carnitine metabolism and transport are more common among children with ASD and regression compared to children with ASD and no regression (R03 HD072102-01A1).

More recently, Dr. Kochel and colleagues used whole exome sequencing data to identify likely gene disrupting (LGD) mutations that are significantly associated with regression in children with ASD. Identifying genetic and other early risk factors for skill loss is important, as her research consistently finds that young children with ASD and regression have significantly poorer cognitive and adaptive-functioning outcomes by middle childhood.

Another facet of her work focuses on consequences of skill loss and how this phenomenon influences parent perceptions about their children and decisions they make on behalf of their families (e.g., treatments they choose for their child with ASD, decisions about whether to vaccinate their children). Importantly, her research on parents’ beliefs about causes of ASD shows that those who witnessed a regression in their children are significantly more likely to believe that vaccines caused their ASD.

See the following articles for more information about this program of research:

Goin-Kochel, R.P. (September 2019). On measuring regression in autism spectrum disorder. Neuroscience & Biobehavioral Reviews, 104, 116-117.

Zhang, D., Bedogni, F., Boterberg, S., Camfield, C., Camfield, P., Charman, T., Curfs, L., Einspieler, C., Esposito, G., De Filippis, B., Goin-Kochel, R.P., Hoglinger, G.U., Holzinger, D., Iosif, A., Lancioni, G.E., Landsberger, N., Laviola, G., Marco, E.M., Muller, M., Neul, J.L., Nielsen-Saines, K., Nordahl-Hansen, A., O’Reilly, M.F., Ozonoff, S., Poustka, L., Roeyers, H., Rankovic, M., Sigafoos, J., Tammimies, K., Townend, G.S., Zwaigenbaum, L., Zweckstetter, M., Bolte, S., & Marschik, P.B. (September 2019). Towards a consensus on developmental regression. Neuroscience and Biobehavioral Reviews, 107, 3-5.

Goin-Kochel, R.P., Trinh, S., Barber, S., & Bernier, R. (Nov. 2017). Gene disrupting mutations associated with regression in autism spectrum disorder. Journal of Autism and Developmental Disorders. J Autism Dev Disord. 47(11):3600-3607. doi: 10.1007/s10803-017-3256-4.

Goin-Kochel, R.P., Mire, S.S., Dempsey, A.G., Fein, R.H., Guffey, D., Minard, C.G., Cunningham, R.M., Sahni, L.C., & Boom, J.A. (March 2016). Parental report of vaccine receipt in children with Autism Spectrum Disorder: Do rates differ by pattern of ASD onset? Vaccine, 34(11), 1335-1342.

Goin-Kochel, R.P., Mire, S.S., & Dempsey, A.G. Emergence of autism spectrum disorder in children from simplex families: Relations to parental perceptions of etiology. (May 2015). Journal of Autism and Developmental Disorders, 45(5), 1451-1463. PMID: 25398603.

Goin-Kochel, R.P., Esler, A.N., Kanne, S.M., & Hus, V. (2014). Developmental regression among children with autism spectrum disorders: Onset, duration, and effects on functional outcomes. Research in Autism Spectrum Disorders, 8(2), 890-898.