Stress Disorders in Tuberous Sclerosis

Tuberous sclerosis and stress disorders like PTSD explored in Massachusetts study

/ Author:  / Reviewed by: Joseph V. Madia, MD Beth Bolt, RPh

(RxWiki News) In tuberous sclerosis, benign tumors can develop on multiple organs all over the body. But for some patients, the mental effects, in addition to the physical effects of this rare condition can be an additional problem.

Researchers behind a new study focused on patients with tuberous sclerosis and stressor-related mental disorders that can develop with the condition.

The study showed that these patients might be prone to conditions like post-traumatic stress disorder (PTSD), even from events that might not be considered traumatic in the general population.

"Seek professional help if you are struggling to cope with a life change."

According to the National Institute of Neurological Disorders and Stroke, in tuberous sclerosis complex (TSC), benign tumors develop on the brain and other organs like the kidneys, heart, eyes, lungs and skin. This genetic condition can lead to a variety of problems, including behavioral issues, seizures and mental health disorders. 

In this new study, researchers led by Susana Boronat, MD, of the Department of Neurology at Massachusetts General Hospital in Boston, wanted to focus on stressor-related conditions like PTSD and adjustment disorder.

In PTSD, the individual struggles to cope with an extreme ordeal (usually involving a threat to life or limb). In adjustment disorder, the individual struggles to cope with a stressful life event (perhaps a death of a loved one or a divorce).

Dr. Boronat and colleagues reviewed the medical charts of TSC patients who were referred to the TSC psychiatric clinic at the Massachusetts General Hospital from January 2009 to December 2012 due to suspicion of a stressor-related disorder.   

The researchers identified nine patients who were diagnosed with stressor-related disorders.

Seven women and two men were identified. Three of the TSC patients were found to have PTSD and six were found to have adjustment disorder.

The average age of the patients was 22, and ages ranged from 8 to 48. Three of the patients were adolescents between the ages of 13 and 15, and the youngest patient was 8 years old.

For all six patients diagnosed with adjustment disorder, the diagnosis was later revised due to the lingering of symptoms for longer than six months. Generalized anxiety disorder was the most common revised diagnosis.

Two of the patients had severe intellectual disability. In these patients, irritability and aggression were the main symptoms. In the patients with normal cognitive and intellectual abilities, avoidance was found to be the most common symptom. 

In the three cases of PTSD, two of the triggering events were related to physical aggression and one was related to a seizure.

At the time of the study, symptoms had lasted an average of 21 months for the patients, with a range of seven to 48 months reported. Seven out of the nine patients were still coping with symptoms at the time the study was completed.

Dr. Boronat and colleagues found that selective serotonin reuptake inhibitors (SSRIs) helped ease symptoms for most of the TSC patients.

"All the patients also received non-pharmacological supportive therapy, which consisted of elements of cognitive behavioral therapy (CBT) and caregivers guidance and education," the researchers wrote. "Two patients received formal CBT, which ameliorated the symptoms in both cases."

This study focused on one hospital and had a small sample size. More research is needed to confirm the findings.

However, Dr. Boronat and colleagues reported that their study hints at the possible vulnerability to anxiety and stressor-related disorders in people with TSC. These patients might be triggered by events that wouldn't normally be considered traumatic for most people.

"Raising awareness about stressor-related disorders in TSC patients will allow an earlier diagnosis and treatment. Additional studies are needed regarding treatment of these disorders in TSC population and the possible role of prophylactic medications," the researchers concluded.

This article was published in the August issue of the Annals of Clinical Psychiatry. No conflicts of interest were reported. 

Review Date: 
November 13, 2013
Last Updated:
December 30, 2013