March 2017 newswire, johns hopkins medicine

In a first-of-its-kind study published in Molecular Therapy, researchers from the National Institute on Deafness and Other Communication Disorders (NIDCD) and Johns Hopkins University School of Medicine showed that gene therapy was able to restore balance and hearing in genetically modified mice that mimic Usher Syndrome, a genetic condition in humans characterised by partial or total hearing loss, dizziness, and vision loss that worsens over time. The hearing loss and dizziness is caused by abnormalities of the inner ear. 

StereocilliaThis image shows stereocilia bundles on inner hair cells from whirler mice after whirlin gene therapy. These hair-like protrusions allow sensory hair cells to detect sound and motion. The whirler mutant mouse has very short stereocilia bundles. After whirlin gene therapy, the stereocilia bundles are increased to normal length (red) and whirlin expression is restored (green).

Primary investigator Wade Chien, M.D., a neurootologist and associate professor, who also practices at the Johns Hopkins Healthcare and Surgery Centre, and his team administered gene therapy to the inner ears of genetically modified mice carrying a mutation in a gene which is associated Usher syndrome. These mutant mice are deaf and have significant balance problems from birth. After gene therapy administration, the balance function of the mutant mice was completely restored. In addition, these mutant also had improvement in hearing. This study was one of the first to show that gene therapy can be used to improve hearing and balance functions in a mouse model of hereditary hearing loss. "Inner ear gene therapy offers tremendous potential as a new way to help patients with hearing loss and dizziness," Chien said. While the positive results are striking the researchers caution that the results are preliminary and will require additional research in humans to demonstrate fully their utility in treating humans. However, they are optimistic that their data indicate that inner ear gene therapy hold promise for treating a variety of human inherited vestibular and hearing disorders, including Usher syndrome.

April 2017  Independent Online

It was a heart-warming moment for Corban, 10, and his 8-year-old sister Samantha when they heard their mom’s voice for the first time after living their lives in silence. The siblings were born deaf and parents Johan and Tania Venter both have 5% vision and are essentially blind.

The siblings recently underwent a six-hour cochlear implant operation at at the Zuid Afrikaans Hospital. After the procedure, they had to wait a month for the swelling to go down before the implants were activated.

 Corbin and SamanthaCorban, 10, and Samantha, 8, are now learning to speak after their hearing devices were switched on. 

The siblings kept on trying out different sounds and noises - and tried talking to each other. It can be difficult for children with cochlear implants to understand the sounds they hear at first. The brain has to learn how to make use of that information.  “I can’t wait for them to call me ‘mom’,” said a tearful Tania, who suffered from progressive disease retinitis pigmentosa, which left her blind. Before this, family members communicated by touch alone; the children could not hear their parents speak and the parents cannot see their children’s signs.

Erika Basson, from the Foundation For Children with Hearing Loss, said the children would require intense rehabilitation and programming as they acquired skills and developed language. The Venters said that although they were a unique family with disabilities, they tried by all means to lead a normal life. “It is amazing,” said stepfather Johan. Their biological father, who is sighted, left the family when they were both very young. Their mother recently married Johan, who is also blind. Johan said they had developed ways and means to carry out conversation. The children know to knock and bang on doors and walls to attract their parents’ attention; they help their parents in doing daily chores around the house. But he explained that when they are in a public places like a mall or a park, they could not call or see them, and this made ensuring their safety difficult. They had to rely on external help. Asked what their plans are, Johan jokingly said “We don’t know, but we will keep our ears to the ground.”

April 2017 Medical Xpress

Hearing loss often is called the invisible disability, according to Washington University researcher Nancy Tye-Murray. It can masquerade as other problems, from dementia to depression, and it can make those problems worse. With an aging population, the detrimental effects of hearing loss will only grow. To help people with hearing loss navigate their daily lives, Tye-Murray and her colleagues at Washington University School of Medicine in St. Louis have developed software tools to improve speech recognition and to provide ongoing contact with an audiologist. The program is called "customised learning: Exercises for Aural Rehabilitation," or clEAR. Working with Washington University's Office of Technology Management, Tye-Murray and the program's co-founder, Brent Spehar, a research scientist at the School of Medicine, launched a St. Louis-based startup company in 2016 to provide the software to patients and hearing health-care professionals.

 Nancy Tye-Murray helps Lonnie WillmannElizabeth Mauze, Kathleen WillmannLeft: Nancy Tye-Murray helps Lonnie Willmann record audio clips for his wife, Kathleen.

Right: with guidance from audiologist Elizabeth Mauze, Kathleen Willmann goes through an auditory training exercise using her husband’s voice.

The clEAR software allows users to play computer games designed to be entertaining while letting them practice recognising common words and sounds. It's not the only such training tool available, but Tye-Murray said one of the aspects of this software that sets it apart from other programs is the ability to practice listening to specific voices. "Our program includes traditional generic voices, but we also have a recording and editing system that lets patients train with the voices of people they most want to hear—often spouses, children or grandchildren," Tye-Murray said. "The patient's spouse, for example, sits down and records the samples. Our software edits the audio clips. As soon as the recording is finished, the patient can begin training with his or her spouse's voice."

Tye-Murray's research has demonstrated that patients show improved recognition of a spouse's speech when practicing with the spouse's voice, compared with practicing with generic voices that are part of all other auditory training programs. That might seem intuitive, but historically, audiologists tended to assume that familiarity with a voice might limit the patient's ability to further improve understanding of that same voice. Tye-Murray's work has shown that not to be the case. In particular, she said, the fact that the training is in the form of different games encourages patients to continue training to improve their scores. The program also is based on knowledge of cognitive psychology and how people learn a second language.

"We spend a lot of time training people to recognise words and sounds," Tye-Murray said. "But we also train the cognitive skills necessary to understand speech, especially in environments with a lot of other sounds. These are skills like auditory attention, auditory working memory and auditory processing speed. Hearing aids don't just amplify the voice you want to hear—they amplify everything," she added. "They also don't make up for the loss of specific frequencies of sound. So maybe a voice is louder, but it's not necessarily clearer. You have to help patients interpret that distorted signal. This type of training helps people pull a single voice from the background noise of a crowded restaurant, for example."

Another important aspect of the training that differs from other systems is that each patient works with an audiologist, who serves as a coach, monitoring the patient's progress and encouraging him or her to continue training. Tye-Murray said her research shows that patients want to know that a professional cares that they are training, and they want the professional's encouragement and structured guidance. Tye-Murray emphasised that this training program can be used by anyone dealing with hearing loss, whether hearing aids, cochlear implants or none of these tools are used.

"Some people with hearing loss don't want to use these devices," Tye-Murray said. "We want to make sure people know they can use this training program even without augmented hearing.

"Conversation is a cooperative effort—there are implicit rules that people follow when speaking with another person," she added. "But when people have hearing loss, they break these implicit rules without realising it. It may appear that they're not paying attention, but the problem may be simply that they can't hear what's being said. They miss subtle cues, and that can make conversation difficult. We want to bring these problems into the light and talk about them, deal with them and come up with solutions that help patients communicate with the people who are most important in their daily lives.”

April 2017 Fox News Health May 2017 Atlanta Journal Constitution

 Rady AdamsRandy Adams and his son, 16-month-old Max, have the same hair, the same eyes and the same hearing impairment.

When 35-year old construction worker Randy met Michelle five years ago at a restaurant,  Randy was the first deaf person she had ever met, and when he tapped on his phone, “I am deaf,” Michelle initially thought he was joking. They exchanged numbers and have been inseparable ever since. At first, they communicated by writing back and forth to each other in notebooks. But over time, she learned sign language from him; he learned how to read her lips. 

The son of two deaf parents, Randy had been born profoundly deaf. Randy and Michelle didn't realise their son would be born with the same genetic inner ear defect as his dad. "I was very upset at first, and I know it sounds weird because I'm fine with Randy being deaf," says Michelle Adams. "But, it just made me really sad because I thought of all the things he wouldn't experience."

When double hearing aids didn't help, Michelle began researching a cochlear implant for Max, which caught Randy off guard. "He got very upset," she remembers. "He said he likes him the way he is, he doesn't want to change him. And why don't  I like him the way he is?” Michelle says it took time to agree on what to do, if anything. "It really took a lot of time," she says.  "He did his research as well. And we'd talk about it all the time.” With Randy's reluctant blessing, Max underwent cochlear implant surgery in October 2016 at Children's Healthcare of Atlanta.

The change, Michelle Adams says, was striking.  "Before that he'd not been responsive at all," she says. "It was just like he was bored all the time. He was a different baby when he could hear."

Randy noticed it, too. "He saw how happy Max would get," Michelle Adams says. "He literally would start laughing and giggling and just getting so excited whenever we'd put it on him and say, 'Hi Max!' And he'd just start going crazy.” The change in the now 16-month-old was so profound, that 6 months later Randy underwent the very same surgery. Nearly a month later, the couple went back to Emory University Midtown Hospital, to have Randy's cochlear implant activated.  

Through a sign language interpreter, doctor of audiology Jenna Frasso, explains the process.

"I'm going to put the magnet on and it's going to test the implant." Frasso tells Randy.

She plays a series of beats, asking Randy if he can feel a vibration or sound. He nods, but says it's like "a tense feeling" on the side of his head. Sitting beside her husband, Michelle asks, “Can you hear me?” “A little bit, but you have a low voice,” Randy says through an interpreter. “So good to hear your voice,” Randy tells his wife. Michelle tears up. It's a powerful moment. Max, sleepy because his is missing his afternoon nap, is quiet.  Randy will have to wait to hear his son speak.

Both father and son will continue to work with an audiologist, who will fine tune the implant. Because Max’s cochlear implant was received before 12 months of age, he should have near normal speech development. Dad Randy will likely have more difficulty with speech, since it wasn’t developed early in life. The learning curve for Randy, hearing for the first time in 35 years, may be steep. "In the beginning, it's almost like you're hearing a different language. It's a different way for the brain to hear," says Frasso. It takes at least 6 months, maybe a year, for Randy to receive the full benefit of his cochlear implant. But Michelle said there have already been big moments.

“He is constantly asking me what the sound is,” she said. “The other day when it rained, he was commenting he was hearing rain for the first time. … And with Max, he loves listening to him laugh. Before, he could see him laughing, and it was great, but now he can hear him laugh, and it’s really awesome.”  Michelle and Randy plan to teach Max sign language.