Stories about: Diagnostics

Lung transplant evaluation: How the rules may differ in children

LungsMost adult transplant centers require patients to walk a set distance in under six minutes to remain a good candidate for lung transplant. The thought is that if patients cannot meet this minimal threshold, then their chances of being able to rehabilitate after transplant are diminished. In pediatrics, this is also important. But Dawn Freiberger, RN, MSN, Boston Children’s Hospital’s Lung Transplant coordinator, says there are other factors that have to be considered.

“The walk test is just one piece of the pie,” says Freiberger.

In 2013, Freiberger co-authored a study, Pretransplant six-minute walk test predicts peri- and post-operative outcomes after pediatric lung transplantation, which became the precursor to a multicenter study with the Children’s Hospital of Philadelphia and St. Louis Children’s Hospital. The new study looks at how a child’s pre-transplant physical condition affects post-transplant outcomes.

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For dyslexia, writing is often on the wall from birth

Writing on the wall-shutterstock_345548735-croppedSome 5 to 17 percent of all children have developmental dyslexia, or unexplained reading difficulty. When a parent has dyslexia, the odds jump to 50 percent. Typically, though, dyslexia isn’t diagnosed until the end of second grade or as late as third grade — when interventions are less effective and self-esteem has already suffered.

“It’s a diagnosis that requires failure,” says Nadine Gaab, PhD, an investigator in Boston Children’s Hospital’s Laboratories of Cognitive Neuroscience.

But a new study led by Gaab and lab members Nicolas Langer, PhD, and Barbara Peysakhovich finds that the writing is on the wall as early as infancy — if only there were a way to read it and intervene before the academic, social and emotional damage is done.

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Brain samples show a wealth of single-letter and somatic mutations in autism

autism somatic mutations SNVsDisease-causing mutations can be incredibly subtle: Sometimes a single-letter change in a gene or a so-called somatic mutation (affecting only some of the body’s cells) can be enough. Researchers report this week in Neuron that both kinds of mutations — easily missed on standard blood and saliva testing — play a role in autism spectrum disorder (ASD).

Scientists have suspected a role for these mutations in brain disorders, but the technology to find them has only recently come online. Sampling brain tissue is the most likely way to find them, but brain biopsies aren’t something you do every day.

In their study, a team led by Christopher Walsh, MD, PhD, and Alissa D’Gama, of Boston Children’s Hospital and Harvard Medical School, tapped several brain banks — the NIH’s NeuroBioBank, the Oxford (U.K.) Brain Bank and Autism BrainNet — to gather brain tissue from more than 100 deceased individuals, some neurotypical and some with ASD.

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Targeting noncoding RNAs could be game-changing in childhood cancer: Triche

The war on pediatric cancer hasn’t been going so well in the past couple of decades, says Timothy Triche, MD, PhD, a cancer researcher at Children’s Hospital Los Angeles. The existing intensive chemotherapy regimens carry a lot of “unfortunate baggage” for children in terms of lifelong morbidity, and haven’t brought about a tremendous change in outcomes, he says.

“We really don’t have a lot of new drugs, if any, and we really don’t have new targets,” he said at Boston Children’s Hospital’s Global Pediatric Innovation Summit + Awards last month. “Underlying this is the fundamental problem that we don’t understand a lot more about childhood cancer than we did before.”

In a Discovery Roundup highlighting four big ideas in pediatric care, Triche made the case for targeting the genome’s “dark matter” — the vast number of RNAs made from the genome that do not code for proteins.

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An iPhone and a bucket help diagnose vestibular problems in dizzy children

dizziness vestibular bucket testDizziness is fairly common in children, but it can be very hard to diagnose the cause. Any number of conditions can produce dizziness, and children are a special challenge since they often can’t describe what they’re feeling.

“One of the toughest things to figure out is, is it a problem with the vestibular system, or is it part of something else, a heart problem or an eye problem?” says Jacob Brodsky, MD, director of the Balance and Vestibular Program at Boston Children’s Hospital. “Then, the next challenging part is determining whether it is an inner ear problem or a central vestibular disorder — a problem with the brain.”

A definitive answer often requires a battery of tests that few providers outside Boston Children’s can perform in children, as they require sophisticated and expensive equipment. But with an ordinary bucket, an iPhone, an $18 app and some Velcro, Brodsky can quickly get a good indication of whether a child has a vestibular problem—and specifically an inner ear problem.

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Two big wins for rare disease

Two new developments offer glimmers of hope to patients with rare, hard-to-diagnose conditions—validation of the power of crowd sourcing and the prospect of bringing cognitive computing to rare disease diagnosis. Both developments were announced at the Boston Children’s Hospital Global Pediatric Innovation Summit + Awards (#PedInno15).

The crowd-sourcing challenge, CLARITY Undiagnosed, yesterday announced the findings of 21 teams that competed from seven countries. The winning team, Nationwide Children’s Hospital (Columbus, OH), was awarded $25,000. Invitae Corporation (San Francisco) and Wuxi NextCODE Genomics (Cambridge, MA) were named runners-up.

Each team received DNA sequences and clinical data from five families whose illnesses had eluded many prior diagnostic attempts—in some cases, even prior genomic sequencing.

“These were the toughest of the tough,” says Alan Beggs, PhD, co-organizer of CLARITY Undiagnosed and director of the Manton Center for Orphan Disease Research at Boston Children’s.

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Pediatric solutions: Which 5-minute pitch will ‘ignite’ the Taking on Tomorrow audience?

(Benjah/Shutterstock)
(Benjah/Shutterstock)

Affordable home dialysis, a device to triage heart murmurs, a cardiopulmonary support enhancer, a novel technology to treat septic shock and a better system for studying neurological function. Which of these ideas will catch fire?

The audience will decide November 10 at Boston Children’s Hospital’s Ignite Talks Competition. Hosted by Chris Duffy, Host of WBUR’s You’re the Expert and presented by Deloitte, the event will close out the hospital’s Global Pediatric Innovation Summit + Awards 2015.

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An eye on epilepsy: The work, life and innovations of Tobias Loddenkemper, MD

Epileptologist Tobias Loddenkemper, MD, director of clinical epilepsy research at Boston Children’s Hospital, is a seizure whisperer. He keeps a close watch on his patients, trying to discern seizure patterns and head off the developmental and learning problems that seizures can cause. A pioneer in the emerging field of chronoepileptology, he has partnered with Empatica and other companies to develop reliable seizure detection devices that could help doctors better time medication dosing and help prevent death from seizures, a real risk in children with severe epilepsy.

Mouse over the icons above to learn more.

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An online portal for undiagnosed patients

(Mopic/Shutterstock)
(Mopic/Shutterstock)

Prospects are looking up for patients who have no explanation for their symptoms despite extensive investigations and testing. There’s a growing revolution in DNA diagnostics (see yesterday’s example) and ongoing work to bring clarity and meaning to sequencing data. Patients with similar symptoms can find each other like never before, and are increasingly empowered to lead in research and discovery.

Another small but important development was announced yesterday by the National Institutes of Health. The NIH’s Undiagnosed Diseases Network (UDN) has opened up a one-stop online portal called the UDN Gateway where patients and families can apply for access to expert team analysis and testing. (A referral letter from a provider is required.)

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Focused genetic testing approach ends a 32-year diagnostic journey

Claritas-JackieSmith3-croppedSome 7,500 rare disorders are known to be caused by single-gene mutations. Most of these disorders first appear at birth or in childhood, and for about half, the responsible gene has been identified. Yet, on average, families with rare disorders spend 12 years searching before getting a correct diagnosis.

Jackie Smith, a 35-year-old mother of two, searched for 32 years for the cause of her muscular weakness. Her parents knew something was wrong soon after she was born. At first, because her ankles turned in, they thought she was bow-legged.

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