August 26, 2014

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It wasn’t a typical Monday morning for Dr. Timothy Lotze, a neurologist at Texas Children’s. Besides making his usual hospital rounds to see patients, Lotze paid a visit to 14-year old Joseph Garza’s room. But, this visit was extra special.

Trading in his white lab coat for a comfy red T-shirt, Lotze participated in the Ice Bucket Challenge to help raise money and awareness for amyotrophic lateral sclerosis (ALS), a neurodegenerative disease that severely impacts a person’s ability to move.

Lotze accepted the challenge from Texas Children’s Muscular Dystrophy Association representative Dalia Deleon on behalf of Garza, who suffers from an extremely rare form of pediatric ALS.

View the video:

“I am so grateful to Dr. Lotze for taking on this challenge to help raise awareness for ALS,” said Lorrie Garza, Joseph’s mom. “Hopefully, they’ll find a cure so no other family or child has to go through this terrible disease.”

A year before Garza’s diagnosis, Lorrie noticed her son was having trouble lifting his arms and began walking with a limp. His condition grew worse, but doctors in his hometown of Brownsville weren’t sure what type of neurological disorder he had. Once Garza was transferred to Texas Children’s, he and his family met with Dr. Lotze, who diagnosed Garza with ALS in May of this year.

While ALS primarily affects adults, there are children who suffer from this debilitating disease that attacks nerve cells in the brain and spinal cord which control voluntary muscle movement. Patients with ALS progressively lose their ability to eat, speak, walk and eventually breathe.

“Since the disease impacts voluntary muscle action, patients in the later stages of ALS may become completely paralyzed,” said Lotze. “It’s important for us to continue to support research and raise community awareness about ALS so we can find a cure for this horrible disease and improve the quality of life for these patients.”

That’s exactly what Texas Children’s researchers Dr. Hugo Bellen and his team strive to accomplish. In their laboratory at the Jan and Duncan Neurological Research Institute at Texas Children’s and Baylor College of Medicine, they are examining the role of genes in ALS to help find ways to suppress degeneration and improve a patient’s functionality.

“A subset of ALS patients have mutations in a gene called VapB,” said Bellen. “We are trying to understand the specific role of this gene by studying fly and mouse models of ALS, caused by mutations in this gene.”

Bellen and his team have discovered that the VapB protein circulates in the blood and functions as a hormone. It binds to receptors on muscle cells to control the function of the muscle mitochondria, the cell’s powerhouse. In the mutants, the muscle mitochondria do not function properly anymore, and this in turn affects the function of the neurons that innervate the muscles, ultimately causing these neurons to die.

“Although the causes of ALS are not well understood, we are making significant progress on how the disease may develop, which could lead to better therapies or possibly a cure in the future,” said Bellen.

As for Garza, his mom says he’s not giving up hope. “He’s already told me he’s going to fight,” said Lorrie. “And I tell Joseph, “We will fight together.”

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Texas Children’s President and CEO Mark A. Wallace took a fun break to raise awareness for a very serious cause on Thursday. Watch him take the ALS ice bucket challenge and see who he’s called out.

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For kids with allergies, a trace amount of a food substance can trigger deadly anaphylaxis within minutes of ingestion – the fear of which can be life altering for many families.

Researchers at Texas Children’s Hospital are looking to give hope to some of these families through a landmark peanut immunotherapy trial. Using a process known as desensitization where patients swallow tiny, increasing amounts of peanut over time, Dr. Carla Davis, a specialist in the Allergy and Immunology Section of the Department of Pediatrics at Baylor College of Medicine, will begin a trial this month that treats children with peanut allergy to help lower the risk of severe allergic reactions and eventually cause them to lose their allergy to peanuts. The study also will determine the mechanism by which the body develops tolerance, as well as measure the effect of viral infections on the ability of peanut allergic children to take peanut flour.

In Europe, a recent oral immunization trail (OIT) showed promise, and both the Consortium for Food Allergy Research and Stanford University are conducting studies in the U.S. But so far desensitization is not the standard of care, and no study has determined the mechanism by which the body develops tolerance. Davis’ plan to monitor how and why the immunotherapy works is revolutionary, and could help allergists ID patients who are good candidates for immunotherapy.

“No other immunotherapy trial in this area has used the state of the art laboratory testing of immune cells to improve the process of desensitization,” said Davis. “We believe the information gained from this trial will help make the process of desensitization faster and more efficient in the future.”

Davis and her team, in collaboration with Dr. Jordan Orange’s Center for Human Immunobiology and the Center for Cell and Gene Therapy, will be evaluating more than 25 markers of cells called lymphocytes, which are central to controlling immune responses. Patients will have blood drawn, and these markers will be evaluated by a process called flow cytometry. The markers will provide insight into how the immune system works to cause food allergy.

“Our study is evaluating clinical measures but in conjunction with the lymphocyte markers that will give us a better way to treat and potentially cure food allergy,” said Davis.

One in 13 U.S. children has a food allergy according to recent data from national organization FARE (Food Allergy Research and Education). This reflects a nearly 50 percent increase in childhood food allergies between 1997 and 2011, leading to 25 billion dollars per year in related health costs to treatment and diagnosis.

People can be allergic to any type of food, but eight foods account for nearly 90 percent of all allergic reactions to food in the U.S., with peanuts being the food that is most associated with life threatening food related anaphylaxis. More than 400,000 school-aged children in the United States have this allergy, according to the American College of Allergy, Asthma and Immunology.

“We chose this food (peanuts) to make the largest difference in safety for our patients,” said Davis.

Texas Children’s is the first center in the southwest region to have approval by the FDA to dispense peanut flour as an investigational new drug. The study will be funded by donations to the Food Allergy Program, with the majority of funds from a private group of individuals in the Food Allergy Advisory Group. Initially, 20 patients will be enrolled, with the potential to enroll hundreds more over the next three years, with the help of expanded funding.

August 5, 2014

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By Dr. Binal Kancherla

All parents run across sleep dilemmas with their child at some point. If it doesn’t happen at 5 days, 5 months old or at 5 years old, it will happen! When my two sons – now ages 5 and 3 – were younger, I would place them in their crib while they were drowsy so they could learn to self-soothe. This method, along with establishing bedtime routines early on, seemed to work well for my family…most of the time!

Recently, I came across an interesting study in Pediatrics, titled, “Infant Sleep Machines and Hazardous Sound Pressure Levels.” While sleep-inducing white noise machines can be a miracle product for exhausted parents, this study may have left many families worrying about whether sleep machines increase a baby’s risk of hearing loss.

The study proposes that during the early development of a baby, their auditory pathways are sensitive and require the appropriate auditory input. Appropriate input means sounds, such as human speech, that are regular in the baby’s environment and usually produced with an irregular frequency. White-noise machines expose babies to a noise of a very consistent frequency over long periods of time. According to the study, in the long-term this disrupts the normal processing of frequency in the brain therefore affecting the child’s ability to hear and process sound intensity.

Researchers tested the maximum noise levels in 14 infant sleep machines at three distances. All but one exceeded the current recommended noise limit for infants in hospital nurseries, even at the farthest distance.

I think the study raises some concerns, but it doesn’t provide specific evidence that these machines lead to hearing problems. Although white noise machines may be successful in lulling a baby to sleep, I believe it is important for parents to establish proper sleep patterns. This can be done by starting a bedtime routine early in infancy, placing the baby in his or her crib while drowsy but not fully asleep, and not allowing the infant to fall asleep while taking a bottle or nursing.

For those new parents out there who opt to use the white-noise method, it’s probably a good idea to position the machine farther away from your baby’s crib, more than the 6 ½ feet tested in the study. Other tips include keeping the volume set on low and only operating the machine for a short duration of time.

Ultimately, each family and each baby is different, but one thing is always true – sleep is necessary to function, to live, for both parent and child. So, find something that works for your family and consult your pediatrician with any specific concerns.

June 17, 2014

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Imagine being a parent of a child who has a rare and mysterious neurological disorder. You’ve traveled around the globe searching for answers. But, after numerous visits with physicians, the mystery remains unsolved.

What seems like a long, unsuccessful quest for answers suddenly ends with a glimmer of hope thanks to remarkable new discoveries emerging from the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s.

Under the leadership of Dr. Huda Zoghbi, a Howard Hughes Medical Institute investigator and founding director of the NRI, she and her team have unlocked the genetic and molecular mysteries behind a number of devastating neurological disorders in children with the ultimate goal of developing treatments to improve their quality of life.

The story of Grace Wilsey is a perfect example.

After a lengthy saga of visiting with physicians across the nation searching for answers about their daughter Grace’s condition, the Wilsey family of San Francisco flew to Houston to meet with Dr. Zoghbi, who helped them find the answer to their child’s perplexing condition.

Dr. Zoghbi examined Grace and recommended a new test called whole genome sequencing that was performed at the Baylor College of Medicine Human Genome Sequencing Center. The collaborative effort between Drs. Zoghbi, Richard Gibbs and Matthew Bainbridge helped identify Grace as the second American child in the world diagnosed with NGLY1 deficiency. The test decoded the DNA sequence of her genome to identify the abnormal gene. The technology helps patients and families understand the cause of neurologic diseases, as well as the risk of recurrence.

Grace is one of the only 17 known children worldwide affected by this rare condition, which is characterized by a mutation in the gene coding for N-glycanase 1, an enzyme that is thought to help recycle defective products from a cellular assembly line. Children who lack this enzyme experience varying degrees of movement disorders, suffer from developmental delays, have liver and gastrointestinal problems and cry without producing tears.

“Kristen and I are so grateful to Drs. Zoghbi, Gibbs and Brainbridge for helping us find a diagnosis for Grace and we are committed to funding research efforts that will lead to a more advanced understanding of this disease and potentially a treatment or cure for Grace and other children who are affected,” said Matt Wilsey, Grace’s father.

Grace’s rare neurological disorder has inspired the Wilsey family to fund researchers at the NRI and the Department of Molecular & Human Genetics at Baylor College of Medicine to study and develop treatments for children with NGLY1 deficiency.

“There is nothing more noble than doing research to help patients,” said Dr. Zoghbi. “Although we have a way to go in the biomedical sciences to really improve the lives of patients with neurological diseases, we are making significant progress.”

June 3, 2014

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Some children with autism appear to be developing normally when they are very young. They babble or even talk, make eye contact with their parents and crawl and walk on schedule. Then suddenly, these skills seem to vanish.

Described as developmental regression, this loss of language, motor or social skills occurs more often in Black and Hispanic children compared to White children, according to a study led by Dr. Adiaha Spinks-Franklin, associate director of the Meyer Center for Developmental Pediatrics at Texas Children’s Hospital.

“Lost skills are very difficult to recover and unfortunately, there is no way to prevent developmental regression,” said Spinks-Franklin. “What we know is important is helping children with autism learn to communicate better, develop improved social skills, engage in more functioning behaviors, participate in an appropriate school curriculum that addresses their unique needs and learn to function as independently as each child can.”

Spinks-Franklin and her team analyzed data on 1,353 preschool children with autism enrolled in the Autism Speaks Autism Treatment Network database between March 2008 and December 2011. The database includes demographic and medical information on each child enrolled at one of 17 locations across the United States and Canada. Information collected included whether parents reported that their child had lost skills.

Results showed that 27 percent of children experienced developmental regression according to their parents. Black children were twice as likely to have parent-reported regression compared to White children. Hispanic children were about 1.5 times more likely than White children to lose early skills according to their parents. This difference was apparent even when researchers controlled for primary caretaker’s education and the child’s insurance status.

“Each child with autism is a unique individual with their own strengths and challenges,” said Spinks-Franklin. “It is very important that all parents in all communities become aware of the early signs of autism – poor communication skills, impaired social skills and unusual behaviors and interests.”

According to Spinks-Franklin, the rates of Autism are the same among African American, Hispanic and White children. However, African American and Hispanic children are generally diagnosed with Autism at later ages than White children and have less access to much-needed educational, therapeutic and medical resources that are designed to help address the needs of children with Autism.

The study, which is an insightful exploration of racial disparities among children with Autism, is Spinks-Franklin’s latest step towards understanding how culture impacts child development. Her previous research experience includes studying the development of children in Senegal, West Africa, and studying the mental health impact of the aftermath of Hurricane Katrina on school-aged African American children in Houston, as well as exploring the racial identity development of school-aged African American and Latino children in the Houston area who participated in a reading intervention program.

“The earlier a child is diagnosed with Autism, the better chance they have to receive the help and interventions the child needs to function to the best of their ability,” said Spinks-Franklin. “One of my goals is to increase awareness of Autism in underserved communities in the Houston area in order for all children to have a better chance of obtaining the help they may need.”

If a parent reports that a child has lost a developmental skill, health care providers should address the parent’s concerns with appropriate screening and referrals. Texas Children’s staff should be aware that there are many community-based and school-based services available to support and help children who have Autism and their families.

Spinks-Franklin presented the study, titled “Racial Differences in Developmental Regression in Children with Autism Spectrum Disorders” on May 6 at the Pediatric Academic Societies (PAS) annual meeting in Vancouver, British Columbia, Canada.

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The Clinical Research Center presented the Clinical Research Award for First Quarter 2014 to Catherine Loffredo, research nurse, Department of Molecular and Human Genetics-Clinical Program.

The award was established by the Clinical Research Center in collaboration with the Research Resources Office to recognize and honor individual contributions to protecting the best interest of the research subjects and compliance with applicable rules and regulations.

Ms. Loffredo’s research activities in the CRC focus on genetic syndromes.