Professor studies autism, Jacobsen syndrome

by Jaclyn Palumbo, Staff Writer

9_22_14_NEWS_autismresearch_photocourtesySan Diego State psychology professor Sarah Mattson recently highlighted a link between autism spectrum disorders, commonly refereed to as ASD, and Jacobsen Syndrome, a chromosomal defect, in her latest research conducted alongside researchers from the University of California, San Diego.

“It is not so much that the symptoms are similar,” Mattson said. “The point of our paper was that we found features consistent with ASD in our patients (that have Jacobsen syndrome) at a much higher rate than you would expect in the general population.”

ASD, diagnosed based on behavioral observation, affects 1 of 88 children age 8, according to the Centers for Disease Control and Prevention (CDC). Symptoms include poor communication skills, a lack of responsiveness and repetitive behaviors.

Jacobsen syndrome is a chromosomal defect diagnosed through genetic testing and clinical assessment, UCSD Associate Professor of Psychiatry Natacha Akshoomoff said.

Jacobsen syndrome is caused by a defect of chromosome 11. Common symptoms of the syndrome are delayed development and motor skills, and distinctive facial features such as a large head, pointy forehead and low-set ears. Approximately 90 percent of affected individuals have a bleeding disorder called Paris-Trousseau syndrome, according to the CDC.

The research was conducted after parents of children with Jacobsen syndrome began reporting ASD-like symptoms in their child. Of the 17 children with Jacobsen syndrome tested, 11 of them exhibited behaviors consistent with symptoms from the diagnosis of ASD, Mattson said.

“The results add to the growing list of genetic disorders or differences that are associated with ASD,” Mattson said. “The results may also allow us to consider the potential for treatment development, related to the specific genes deleted.”

While Jacobsen syndrome can be diagnosed from infancy because of its genetic cause, ASD can’t be diagnosed until behavioral symptoms are present. Since ASD is not currently pinpointed to any one gene as the cause, multiple genes could be contributing.

“The goal is to study more patients with Jacobsen syndrome to better understand how the specific genetic abnormalities present with infants and may be an indicator of autism,” Akshoomoff said.

With a link connecting the two conditions, children diagnosed early on with Jacobsen syndrome have a chance for early ASD intervention before behavioral symptoms appear.

“It is important for knowing that children with (Jacobsen syndrome) are at increased risk for ASD,” Mattson said. “This means that families can be counseled early on about what signs to watch for and encouraged to seek early intervention services. Later, having a diagnosis helps the children get the services they need.”