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Precise genetic tests pinpoint epilepsy causes—allowing earlier diagnosis and treatment

Precise genetic tests pinpoint epilepsy causes—allowing earlier diagnosis and treatment

Chicago, IL — Standard initial evaluations of children having seizures before age three should include the latest and most precise genetic testing for epilepsy, a new study now says.


The study calls for such children to get genetic sequencing—likened by researchers to finding spelling mistakes in words—instead of the chromosome microarray genetic test comparable to finding printing errors, like missing paragraphs or entire chapters.


According to the study, 40 percent of children who developed seizures before age three had specific genetic factors that caused epilepsy.  The study also found that genetic testing provided a diagnosis in 25 percent of patients who had epilepsy with an otherwise unknown cause.


“Identifying the precise [genetic mutation] cause of a child’s epilepsy as soon as possible would help us choose the most effective treatment to control seizures early on, which is important for healthier brain development,” said Anne Berg, lead researcher at the Stanley Manne Children’s Research Institute at Lurie Children’s Hospital of Chicago.


“The sooner a precision diagnosis can be made,” she added, “the sooner a child can start treatment.”


The study was published July 31 in JAMA Pediatrics.


Robotic device improves gait in kids with cerebral palsy

New York, NY — A robotic physical-therapy device developed by New York’s very own Columbia University shows early promise in helping kids with cerebral palsy walk better.


The Tethered Pelvic Assist Device (TPAD) robotic system is designed by Columbia researchers to help reduce crouch gait—a cerebral palsy-related condition in children with mild to moderate cerebral palsy that is marked by excessive bending of the hips, knees or ankles.


The device, worn like a belt of sorts, applies downward force to the lower limbs to retrain certain leg muscles.  After participating in a six-week series of 15-minute training sessions with the TPAD, six participating children showed significant improvements in their walking abilities.


Those improvements included posture and muscle coordination, step length, toe clearance, range of motion, and heel-to-toe pattern.  The research was written up recently in Science Robotics.


Columbia researchers plan further clinical trials on TPAD, including a larger group of kids with crouch gait, as well as with kids with more severe forms of cerebral palsy.


Cerebral palsy is a birth physical disability caused by damage to those parts of the brain that control physical movement.  Cerebral palsy hinders fine-motor ability mildly to severely, and is commonly marked by uneven tendons in the arms or legs resulting in hands turned in or bowed legs due to uneven growth. 


Drug improves brain performance in Rett syndrome mice

Birmingham, AL — An experimental drug was shown in tests at the University of Alabama at Birmingham to improve the brain function of mice with Rett syndrome.


The drug named LM22A-4 was found to burrow deep into the brains of mice affected by Rett syndrome, improving their ability to remember the location of objects.


Earlier research elsewhere found that LM22A-4 improves Rett mouse breathing.  The drug has also been shown to promote motor recovery in mice that had strokes or spinal cord injuries.


Researchers now believe that neurodevelopmental disorders affecting early brain development like Rett syndrome may one day be amenable to treatment, even after the onset of symptoms, with LM22A-4 and similar brain-function-improving drugs.


Rett syndrome affects about one of every 10,000 females worldwide.  Infants develop typically until six to 18 months of age, when a number of serious symptoms including intellectual disability, autistic features, motor control deficits, breathing and sensory problems, and epilepsy start to appear.  Most people with Rett syndrome have a mutation in the gene MeCP2.