Breaking News
April 26, 2018 - Consuming large quantities of sugar during pregnancy can affect child’s cognition, shows study
April 26, 2018 - Researchers create new tool to measure patient uncertainty for predicting hospital readmissions
April 26, 2018 - FDA Alert: Lamictal (lamotrigine): Drug Safety Communication
April 26, 2018 - Massive single-cell survey of kidney cell types reveals new paths to disease
April 26, 2018 - Cognitive behavioral therapy can help children with autism manage emotional challenges
April 26, 2018 - CU Anschutz Medical Campus receives NIH grant to speed up discovery of new treatments
April 26, 2018 - Researchers discover significant distortions in leading genetics study method
April 26, 2018 - New combination therapy could improve survival in children with high-risk neuroblastoma
April 26, 2018 - Scientists clarify casual role of oxidative stress in metabolically abnormal and healthy obesities
April 26, 2018 - Home-based exercise program found ineffective for patients with peripheral artery disease
April 26, 2018 - Choroidal Thickness Changes in Patients With Untreated DM
April 26, 2018 - Medical chemists discover peptic ulcer treatment metallodrug effective in ‘taming’ superbugs
April 26, 2018 - UB researchers build 3D-printed, drug-filled dentures to fight against infections
April 26, 2018 - Researchers find role of iron storage gene in slowing down prostate cancer growth
April 26, 2018 - Study suggests link between regular mid-day naps and neurocognitive function in teens
April 26, 2018 - Researchers gain ground-breaking insights into how inflammatory diseases work
April 26, 2018 - Injured U.S. Vet Receives World’s First Penis/Scrotum Transplant
April 26, 2018 - Researchers find existing drug effective at preventing onset of type 1 diabetes
April 26, 2018 - MGH researchers identify risk factors for drug overdose in youth with substance use disorders
April 26, 2018 - Researchers develop new vaccine to help people overcome bath salts abuse
April 26, 2018 - Genetic signature predicts diabetes diagnosis
April 26, 2018 - Study shows link between restless legs syndrome symptoms and brain structure
April 26, 2018 - MU researchers use new techniques to fight against diabetic retinopathy
April 26, 2018 - AAE’s new practice statements aim at improving patient care
April 26, 2018 - Expression of long non-coding RNAs can result in high levels of specific proteins involved in cancer
April 26, 2018 - FDA re-examining safety of new drug approved for Parkinson’s disease psychosis
April 26, 2018 - Unanimous Positive Result of FDA Advisory Committee Meeting for First Plant-Based Pharmaceutical Cannabidiol Treatment for Seizures in Patients with Two Rare, Severe Forms of Epilepsy
April 26, 2018 - Bacteria boost antifungal drug resistance in severe childhood tooth decay
April 26, 2018 - New study affirms bedtime habits of Americans
April 26, 2018 - Hospital patients are more interested in tracking their health data, research shows
April 26, 2018 - Study shows gene variations associated with malaria risk
April 26, 2018 - Inhealthcare teams up with MSKassist to combat problems related to obesity and aging
April 26, 2018 - Caffeine during pregnancy – babies 66 percent more likely to become overweight
April 26, 2018 - FDA Approves Jynarque (tolvaptan) to Slow Kidney Function Decline in Rapidly Progressing Autosomal Dominant Polycystic Kidney Disease
April 26, 2018 - Pricey dental implants often best but insurance rarely pays
April 26, 2018 - Advion’s Peak Express software now available with the expression compact mass spectrometer
April 25, 2018 - Researchers find link between pneumonia in older people and PPI prescriptions
April 25, 2018 - Alcohol damages microbiome in the mouth
April 25, 2018 - Regular soaking in hot tub improves health outlook in obese women with PCOS
April 25, 2018 - FDA Alert: Magnetic Resonance-guided Laser Interstitial Thermal Therapy (MRgLITT) Devices: Letter to Health Care Providers
April 25, 2018 - Sunshine could hold clues on the timing for a severe form of heart attack, study says
April 25, 2018 - Sartorius Stedim Biotech launches mini bioreactor vessel for ambr 250 high throughput system
April 25, 2018 - Biofeedback-assisted relaxation may help children during medical procedures
April 25, 2018 - Key signaling protein in Huntington’s disease found to have deleterious effects on heart function, shows study
April 25, 2018 - Celecoxib Lowers Opioid Use Post Head & Neck Cancer Surgery
April 25, 2018 - New ‘brain health index’ can predict how well patients will do after stroke
April 25, 2018 - Positive interventions in sepsis management raise key questions about E. coli reduction targets
April 25, 2018 - Scientists identify new DNA structure within living human cells
April 25, 2018 - E. coli’s toxin-antitoxin system inhibits bacterial growth
April 25, 2018 - Researchers uncover reason why exercise may be beneficial for the heart
April 25, 2018 - Researcher presents case study of asymptomatic patient with severe mitral regurgitation
April 25, 2018 - Use ‘Proper Form’ When Practicing Yoga
April 25, 2018 - Study reports possible novel method for stopping untreatable pediatric brain cancers
April 25, 2018 - Visually guided walking paves way for better treatment for mobility impairments
April 25, 2018 - Researchers identify novel pathway in development of AML with poor prognosis
April 25, 2018 - Cardiovascular disease may only be a matter of time for people with healthy obesity
April 25, 2018 - Girls with type 2 diabetes have high frequency of menstrual irregularities
April 25, 2018 - Study explains why intense exercise curbs appetite
April 25, 2018 - Experimental drug for rheumatoid arthritis prevents side effect of stem cell transplants
April 25, 2018 - Why are Antibiotics Overprescribed for Meningitis Treatment?
April 25, 2018 - Consuming protein supplements with meals, rather than between meals, may promote weight control
April 25, 2018 - Seeing prostate cancer in a new light
April 25, 2018 - Jacobs Medical Center recognized with Baby Friendly Designation for efforts in mother-baby bonding
April 25, 2018 - Gene related to high fatality could be used as biomarker in patients with P. aeruginosa infection
April 25, 2018 - Study shows patients in major prostate cancer study are more likely to die than real-world patients
April 25, 2018 - HBP researchers develop new tool to examine role of genes in disease-relevant brain regions
April 25, 2018 - Trio’s pioneering silicone ostomy product wins prestigious Queen’s Award for Enterprise
April 25, 2018 - Study highlights potential of stem cells derived from adults in regenerative medicine
April 25, 2018 - A new, emerging procedure burns cancer cells
April 25, 2018 - Acclarent introduces real-time, 3D navigation system for ENT procedures
April 25, 2018 - Italy’s prestigious Veneto Institute of Oncology acquires MILabs’ latest VECTor5CT system
April 25, 2018 - Future screening is more likely for people with false-positive cancer screening results
April 25, 2018 - Tweezers made of laser beams manipulate atoms to make new molecules
April 25, 2018 - Elevated immune function during childhood linked to stunted growth
April 25, 2018 - FDA Accepts New Drug Application for Duvelisib and Grants Priority Review
April 25, 2018 - Research reveals autism and schizophrenia share common traits
April 25, 2018 - Perceived stress decreases for most women over 15-year span, study finds
April 25, 2018 - Coastal Genomics’ LightBench integrated with Hamilton liquid handler systems to bring efficiencies, savings for clinical laboratories
April 25, 2018 - Researchers discover new gene associated with aortic aneurysms
April 25, 2018 - Preantral zinc deficiency may affect fertility months
Researchers team up to improve life for children with microcephaly

Researchers team up to improve life for children with microcephaly

image_pdfDownload PDFimage_print

Audrey Alves had just turned 2 when she first visited the Virginia Tech Carilion Research Institute Neuromotor Research Clinic a year ago. Unlike most toddlers her age, she struggled to sit, crawl, and communicate.

Audrey has a medical condition known as microcephaly, which causes her head, brain, and body to be smaller compared with other children. Genetic testing traced her problems to a flaw in a gene called CASK.

But after three weeks of intensive therapy at the Virginia Tech Carilion Research Institute Neuromotor Research Clinic, Audrey played with toys, was gleeful at the sound of Elmo’s voice, and was intent on getting her hands on “magic beads” — which she asked for with her newfound baby sign language abilities.

Now, Audrey’s accomplishments and those of two additional girls who received intensive therapy at the VTCRI Neuromotor Research Clinic based on innovative pediatric neurorehabilitation research at the VTCRI have been documented in a report published in BMC Research Notes.

An analysis led by Stephanie C. DeLuca and Konark Mukherjee, assistant professors at the Virginia Tech Carilion Research Institute, showed the three girls advanced an average of 24 developmental months during their therapeutic interventions.

Audrey was the youngest of the children and made the most gains.

“Intensive therapy produces improvements in skills and abilities in children that sometimes takes years to obtain in a more traditional setting,” said DeLuca, the director of the VTCRI Neuromotor Research Clinic. “Gaining years of development in such a brief time might greatly alter each child’s long-term developmental trajectory.”

DeLuca, a developmental psychologist devoted to advancing adult and pediatric neurorehabilitation techniques, works closely with Mukherjee, who studies the fundamental biological mechanisms of neurodevelopment and who also leads one of the only research teams in the world devoted to understanding the CASK gene’s role in neurological disorders. Both also hold research faculty appointments in Virginia Tech’s College of Science.

Together, their bench-to-bedside work may help scientifically validate intensive therapy techniques and, in turn, influence the way therapy is delivered to help more people.

Mukherjee studies mice that have the same CASK genetic mutation that affects the children with microcephaly. By testing how mice respond to therapy, the researchers can better understand effects of the intervention on neural activity and communications between nerve cells in the brain.

“One would rarely find two scientists as diverse in expertise as Dr. Mukherjee and Dr. DeLuca in such collaborative partnerships in medical centers with traditional organizational structures,” said Michael J. Friedlander, the executive director of the Virginia Tech Carilion Research Institute and Virginia Tech’s vice president for health sciences and technology. “We are fortunate to have researchers of their caliber with the openness to explore possibilities beyond the boundaries of their own areas of expertise and take bold steps to bring leading edge science to the improvement of human health at the research institute.”

In the intensive therapy as described in BMC Research Notes, children each received four hours of attention during weekdays for 10 treatment days total. Normally, the same therapy would be delivered in hour-long sessions over 40 days.

DeLuca, who has extensively used the accelerated form of therapy to help children born with cerebral palsy, said she expected families facing the developmental challenges caused by a flaw in the CASK gene to have similar success.

Prior to arriving at the VTCRI Neuromotor Research Clinic, Audrey received an hour of therapy five days a week. Each day, the therapy was focused on a different task, such as speech, movement, and eating.

Even this daily, hour-long therapy paled in comparison to the accelerated therapy, according to Audrey’s mother, Rachel Alves, of Sacramento, California.

“We’ve heard so many ‘may nevers,'” Alves said. “She may never walk, she may never talk. I was just thrilled to see her communicating and playing with toys.”

Therapist Dory Wallace of the VTCRI Neuromotor Research Clinic spent four hours per session with Audrey, helping her sit, crawl, grasp toys, and eat from a fork. She also helped her learn to use “signs” to communicate with her hands.

“You see growth within four weeks because kids literally change,” Wallace said. “They become new little people because they have so many more abilities, and it lights up their personalities and increases their confidence. And you see that impact the parent’s lives.”

Mary Rebekah Trucks, a senior occupational therapist at the VTCRI Neuromotor Research Clinic, also contributed to the design and implementation of the treatment protocol and the authorship of the article in BMC Research Notes.

The team approach allows Mukherjee to apply strategies such as DeLuca’s intensive therapy techniques on mice, monitor their neural changes, and pass information back to DeLuca about methods that seem to be most effective.

Since CASK was discovered, it has been found in all animals and people, Mukherjee said. But health problems caused by the CASK mutation have been mysterious. Likewise, the brain mechanisms underlying the improvements that the children experienced are unknown.

Animal studies indicate intensive training may stimulate generation of new brain cells and facilitate strengthened communication between existing nerve cells , Mukherjee said. The researchers believe it is possible intensive neurorehabilitation in children with microcephaly may trigger the growth of new brain cells — a process called neurogenesis — and strengthen neuronal communications –a process called synaptic plasticity.

DeLuca believes early, intensive intervention will make a difference for families facing the challenges of microcephaly, and it will also be more cost-effective for families and society in the long-term. Finding a therapy for microcephaly has become more urgent with the emergence of the Zika virus, which can infect expectant mothers and affect developing fetuses.

“I want to take what we learn from each child and put it out there in a way that has a chance of helping every child that needs it,” DeLuca said.

Tagged with:

About author

Related Articles