Spreading Health Solutions and Hope – UC Davis

Posted: January 16, 2020 at 1:47 pm

When it comes to care and services for people with neurodevelopmental disabilities like fragile X, there is a long way to go. Protics published study found that medical professionals in Serbia know very little about fragile X, a problem she hopes to remedy through medical conferences and the countrys newly launched Fragile X Society the only one for the entire Balkan region. With funding support from Sacramentos Serbian immigrant community, Protic already has set up the countrys first fragile X testing site.

The X in fragile X syndrome refers to the X chromosome, where the mutated gene that causes the disorder is located. That gene, FMR1, is involved in making a protein important for the development of critical connections between nerve cells. When the cells cant make the protein, the nervous system can malfunction, leading to the signs and symptoms of fragile X syndrome. Fragile X affects one in 2,500 to 4,000 males and one in 7,000 to 8,000 females.

What the disorder looks like in children varies, but males are more severely affected. They are more likely to have intellectual disabilities and distinguishing physical characteristics like long, narrow faces, big ears, prominent jaw and forehead, unusually flexible fingers and flat feet. Affected individuals also frequently have speech and language delays, behavior challenges, ADHD and anxiety.

An estimated 50% of children with fragile X also have autism, and its the most common single-gene cause of autism, accounting for about up to 6% of cases. And while children with fragile X and autism may share many characteristics, children with fragile X can be more interested in other people, make friends more easily and do better in social settings, Randi Hagerman said.

Ive known many boys with fragile X who have been voted Homecoming King, she told the conference audience one of many hopeful anecdotes she shared during her talk.

As theyve been doing increasingly over the past several years, MIND Institute experts brought a treasure trove of information to the people gathered in Belgrade to advance the regions understanding of fragile X and help clinicians and others begin to address the needs of the affected population.

MIND Institute Director Leonard Abbeduto, a psychologist, whose work includes using digital communication technologies to help parents support their childrens language development, said the trip to Belgrade exemplifies the evolution of the MIND Institute, founded in 1998 to find and develop treatments for neurodevelopmental disabilities. The institutes International Training Program in Neurodevelopmental Disorders, which invites health care professionals and scientists from around the world to train at the MIND Institute, has had 24 participants from China, Philippines, Thailand, Turkey, Singapore, Spain, Ecuador, Colombia, Chile, Japan, Israel, South Korea and Serbia, including Protic. Many of them have taken their knowledge home to create their own programs.

The MIND is a research, treatment and training center created out of the efforts of families who wanted to make life better for their children and other families, Abbeduto said. We are really trying to build on what weve done to enhance our impact locally, nationally and internationally, which is why I was motivated to make the trip to Belgrade.

Joining colleagues from Johns Hopkins, Rush, Emory and other universities, MIND Institute speakers elaborated on the latest in clinical diagnosis and assessments for children with fragile X, family-focused language interventions, the latest in scientific discovery and DNA testing, new targeted treatments currently in use and others on the horizon, as well as the importance in involving patients and families in advocacy efforts.

I find that we have so much knowledge at the MIND Institute, I really want to share it, said Randi Hagerman. Sometimes, in many other countries the doctors have never even heard of fragile X syndrome.

Maija and Cristian Sukreski traveled from Croatia to the meeting in Belgrade in search of advice to help their 3-year-old son, Petar, diagnosed a year ago with fragile X. The tiny, blond Petar is rambunctious, nonverbal and increasingly aggressive, hitting his parents when they attempt to calm him. Its a trait his mother worries could become dangerous as she tearfully ponders the future.

Their trip, Maija Sukreski said, was to find help.

He is going to therapy now, and I hope he can receive other therapy that will be more effective to slow down the behavior problems and help him talk, she said.

In a small and drab clinic exam room, the couple awaited a chat with David Hessl, a MIND Institute psychologist and researcher known internationally for his work to refine psychological assessments for children with fragile X syndrome and other neurodevelopmental disorders. Petar stood, biting his hands then flapping them, a common autism characteristic referred to as stimming short for self-stimulating. They told Hessl about the boys worrisome behaviors.

The aggression is a form of communication, Hessl told the parents. Hes not angry with you. Hes just overwhelmed.

Hessl suggested that instead of punishing Petar for hitting, they should reinforce good behavior with rewards of things he wants, like bananas, or special toys.

When he hits, dont be emotional or reactive. Stay really neutral. Turn away, he said, adding: Put a lot of time in this now and you will save yourself a lot of problems later. When his speech comes, he will probably be less aggressive.

In another exam room, Hagerman and Protic were talking to the Cvijetics while Demetrije chewed his knuckles, played with his fathers iPhone and made frequent whimpering sounds.

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Spreading Health Solutions and Hope - UC Davis

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