More genetics news today: Researchers have identified the mutated gene that causes childhood absence epilepsy (CAE).

The seizures of childhood absence epilepsy (CAE) are usually staring spells during which the child is not aware or responsive. The child’s eyes may roll up briefly. Each spell lasts about 10 seconds and ends abruptly. The child often is not even aware that anything has happened. These episodes can occur 1 to 50 times per day, often during exercise. Tonic-clonic (grand mal) seizures, with or without fever, may occur for a while before absence seizures develop and may occur from time to time thereafter. [Epilepsy.com]

The Childhood Absence Epilepsy Family Study also notes that CAE is also known as “Petit Mal” or epilepsy with “staring spells.” CAE is an inherited disorder and accounts for 10-12 percent of cases of childhood epilepsy.

The new study that points to a genetic cause for CAE appears in the May 29th online edition of the American Journal of Human Genetics. The study’s authors are from the David Geffen School of Medicine at UCLA and the Epilepsy Genetics/Genomics Laboratory, Epilepsy Center at the VA-Greater Los Angeles Healthcare System in West Los Angeles.

UCLA/VA research scientist Dr. Miyabi Tanaka studied the DNA of 48 patients with CAE and discovered that four patients had a genetic mutation occurring in a receptor called GABAR which binds to a neurotransmitter of the brain called GABA that inhibits the excitation of nerve cells in child and adult brains. When this regulation is lost or reduced, seizures develop.

“We identified this genetic mutation in eight percent of study patients with CAE, which is significant,” said Richard W. Olsen, Ph.D., study author and professor, Department of Molecular and Medical Pharmacology, David Geffen School of Medicine at UCLA.

Scientists also found that the genetic mutation was caused by an “alternative signal peptide called exon 1a, which is richly expressed in the fetus and developing brain, but as the child matures and becomes an adult, the expression of exon 1a is reduced”—-and this is why CAE “disappears” in adolescence and in adults.

We have wondered about the possibility of my son having seizures like the “absence seizures” noted above. Charlie’s pediatric neurologist specializes in epilepsy and seizures and (based on our descriptions of Charlie’s behavior) does not think he is having these types of seizures. Since my son’s language is very limited, we can never be 100% certain about anything, though—-hence the continuing interest in the possibility of medical signs and/or tests to detect conditions; to find answers.

According to Dr. Fernando Miranda of the Bright Mind Institute, maybe not. A report in the May 19th Good Morning America/ABC News describes some children who were initially diagnosed with autism, and later found to have Landau-Kleffner Syndrome. For some of the children, anti-seizure medication has produced dramatic results and Dr. Miranda is said to insist that “you have to look inside the brain to determine what’s wrong,” via MRIs and EEGs.

The ABC report portrays parents as greatly relieved to know that there is a medical issue for their child’s disorder, and that the child does not have autism:

To watch Beckett [Kavanaugh] today, you might think he has a bit of trouble speaking, but it’s minor. You’d never think he was autistic. He’s being mainstreamed in kindergarten, in a school that he attends with his brother.

But that is yet another thing [his mother, Sarah Kavanaugh] has had to fight for, because the autism label stuck for so long it was hard to remove.

She’s also had to battle conventional wisdom in the medical community. Despite the EEG results, other doctors she’d seen in the past told her Beckett’s seizures didn’t meet the standard criteria for treatment. He wasn’t having enough seizures, in other words.

Doctors told her to take Beckett off the anti-seizure drugs, and Kavanaugh did without telling anyone.

A few weeks later, Beckett’s speech therapist called, very concerned. Beckett was sliding backward quickly, Sarah was told, so she put him back on the drugs.

Typically with anti-seizure medicine, the course of treatment is no more than four years. In that amount of time, the seizures usually clear up as the brain is literally retrained to stop seizing.

Many types of anti-seizure medicine are in use for other symptoms, such as bipolar disorder. But there is great debate within the autism medical community about when anti-seizure drugs should be used and about how severe the seizures have to be before they are treated.

Further complicating things, these seizures can often be completely invisible to the naked eye, or mistaken for staring or daydreaming — symptoms typical of autism.

We’ve speculated again and again that a seizure might be behind some of Charlie’s difficulties. Charlie’s had two MRIs and an EEG (not a sleep one) and there’s been no sign of seizure activity. By coincidence, the pediatric neurologist who Charlie sees specializes in seizures and epilepsy and he’s been very sure that Charlie is not having seizures. We’ve a few friends whose children do have Landau-Kleffner and/or epilepsy and there are differences in the types of teaching and other treatments that a child best responds to.

There’s something about finding a medical, biological, physical cause for a child screaming over and over or knocking his head on the car window that is reassuring. If you know that it’s a bad stomachache—or constipation from eating too much of certain things, perhaps—-plus a bad headache that is the reason for a tough day, a parent tends to feel that he or she can do something to “fix” it. I was reminded of this yet again this afternoon: Charlie asked to go swimming, got dressed in his swimsuit, sat in a chair unmoving. My suggestion to put on his shoes so that we could go brought on a bout of crying which continued in the car. I had to stop—-once at a major intersection—-three times and try to talk and calm down Charlie, who was almost in the back of our stationwagon at one point.

Jim and I think that Charlie’s having definitely entered puberty has a lot to do with these seemingly sudden outbursts of crying, anxiety, and head-swinging. I have been trying to recall my own adolescence, which was not happy; Jim has similar memories of being a miserable pre-teen. We know we’ve entered a new stage on the long road with Charlie. And when I think back to how I struggled to explain what I was feeling when I was 13, and think of how limited Charlie’s speech is, I hear how much he’s trying to say, even though the words aren’t there. I hope that we can sometimes pinpoint an actual reason for why Charlie is upset; I know that too often we may not, and we have to keep listening and learning.

The ABC News suggests that autism is a “label” better lost and one certainly feels some relief to find out the reason for a child’s illness. But: In the very recent past—sadly and terribly—a local mother here in New Jersey killed her middle-school son, who had been recently diagnosed with epilepsy. Families need to know that there is a lot of help and support for children with special needs and/or serious health issues and that there much that can be done.

And that, any label is just a label, and that it’s just the first step in trying to figure out how best to truly help one’s child.