Epilepsy breakthrough: Australia-led study

An Australia-led study has identified a gene associated with a common form of epilepsy which could lead to earlier diagnosis, a researcher said Tuesday.

Melbourne University academic Ingrid Scheffer said a number of genes linked to epilepsy were known to scientists, but these related to rare families in which a large number of members had the condition.

"The reason that this discovery is very important is that it's not just for rare families, we think it will be a gene that will be important for people without a family history," Scheffer reported.

The study is published in the journal Nature Genetics.

Ingrid Scheffer

"So it's changing the game in terms of being important for a much broader number of people with focal epilepsy."

Focal, or partial, seizures start in one part of the brain and affect the part of the body controlled by that part of the brain.

Scheffer said a clinical diagnosis could not be made for epilepsy without seizures of some kind but the finding could aid genetic counselling and diagnosis—particularly in cases where everything else in the brain is normal.

"When you have epilepsy people always say, 'Why have I got this?' And this is the next level, which is the gene test," she said.

"So they will be able to be tested for this gene, and that's important in terms of understanding the cause, in terms of treatment, and hopefully this will one day help outcomes.

"And it's also important in terms of genetic counselling for their own children," she said, meaning people would be able to assess the risk for their own offspring if they were found to have the gene.

The research comes after new gene detection techniques allowed scientists to pinpoint the abnormality, finding it in 12 percent of the 80 families studied, in which one or more members had epilepsy.

"That's huge to find a gene that picks up 12 percent, 12 percent of the common cause of epilepsy," Scheffer said.

"I think that it means that if you look at anybody with focal epilepsy—without an abnormality on their MRIs, what we call a structural abnormality—my guess is that it will be 2-4 percent of them will have this cause."

The research, published in the April issue of the journal Nature Genetics, also involved scientists in Europe and Canada.

Most of the families studied were Australian, but the group included some from Spain, Israel, Italy and elsewhere, Scheffer said.

Adult ADHD Research Breakthrough using MCT

Let's begin with a brief explanation about Meta-cognitive Therapy (MCT):
Meta-cognitive therapy is a therapy based on the principle that anxiety, worry and circular ruminations are universal processes that can lead to an emotional disorder.

These processes are linked to common but erroneous beliefs about thinking and unhelpful coping or self-regulation strategies. These are things we do to address the problem but they can be responsible for keeping it going.

Metacognitive therapy recognises this negative change in thinking patterns and believes it is very important. It gives it a name: the Cognitive-Attentional Syndrome (CAS).

Affected persons can suffer from repeated patterns of thinking that consist of worry, rumination, a fixation of attention on a threat, and they can develop coping behaviours that the person believes are helpful but in many cases they keep the emotional problems going.

So, successful use of meta-cognitive therapy can allow people to escape from, or break out of repetitive thinking patterns and therefroe the behavours that lead to prolonged psychological distress.

In this blog we will look at one team's research into it's effectiveness and use in addressing the needs of adults who suffer from ADHD - Attention Deficit and Hyperactivity Disorder.

Research
Mount Sinai researchers have learned that meta-cognitive therapy (MCT), a method of skills teaching by use of cognitive-behavioural principles, yielded significantly greater improvements in symptoms of attention deficit hyperactivity disorder (ADHD) in adults than those that participate in supportive therapy.

The study, titled "Meta-Cognitive Therapy," is now published in the American Journal of Psychiatry.

Mary Solanto, Ph.D., Associate Professor in the Department of Psychiatry and Director of the Attention Deficit/Hyperactivity Disorder Center at The Mount Sinai Medical Center examined the effectiveness of a 12-week meta-cognitive therapy group. The intervention was intended to enhance time management, organisational, and planning skills/abilities in adults with ADHD.

"We observed adults with ADHD who were assigned randomly to receive either meta-cognitive therapy or a support group," said Dr. Solanto. "This is the first time we have demonstrated efficacy of a non-medication treatment for adult ADHD in a study that compared the active treatment against a control group that was equivalent in therapist time, attention, and support."

The study observed 88 adults with rigorously diagnosed ADHD, who were selected following structured diagnostic interviews and standardised questionnaires. Participants were randomly assigned to receive meta-cognitive therapy or supportive psychotherapy in a group setting. Groups were equated for ADHD medication use.

Participants were evaluated by an independent (blind) clinician using a standardised interview assessment of core inattentive symptoms and a subset of symptoms related to time-management and organisation.

After 12 weeks, the MCT group members were significantly more improved than those in the support group. The MCT group was also more improved on self-ratings and observer ratings of these symptoms.

Meta-cognitive therapy uses cognitive-behavioural principles and methods to teach skills and strategies in time management, organisation, and planning. Also targeted were depressed and anxious thoughts and ideas that undermine effective self-management.

The supportive therapy group matched the MCT group with respect to the nonspecific aspects of treatment, such as providing support for the participants, while avoiding discussion of time management, organization, and planning strategies.

In addition to Dr. Solanto, the research team included David Marks, Ph.D., Assistant Professor of Psychiatry, and Jeanette Wasserstein, Ph.D., Assistant Clinical Professor of Psychiatry at Mount Sinai School of Medicine.

If you would like to know more about MCT - Meta-cognitive Therapy, you can click on the link to go to the MCT Institute website.

NB: I have not examined this site at great length and see it only as a possible source of further information for the reader.