Scientists discover rare genetic condition that attacks kids’ immune systems



congenital cmv hearing loss progressive :: Article Creator

How A Common Viral Infection Can Increase A Child's Autism Risk

Children born with a common viral infection are nearly 2.5 times more likely to be diagnosed with autism spectrum disorder, a new study finds.

Cytomegalovirus is part of the herpes family of viruses. It spreads through body fluids like blood, saliva and urine, and it's usually harmless in healthy people. Around a third of infected mothers pass CMV to their fetus in utero.

About one in every 200 US babies is born with CMV each year. Nearly 20% of those infants will experience birth defects or other long-term health problems, such as hearing or vision loss, developmental delays or epilepsy.

CMV can be especially dangerous to babies, potentially resulting in hearing or vision loss, developmental delays or epilepsy. Jamey Ekins – stock.Adobe.Com

For this study, researchers from the University of Michigan and Centers for Disease Control and Prevention analyzed data on nearly 3 million children enrolled in Medicaid or the Children's Health Insurance Program.

Just over 1,000 kids had congenital CMV, while nearly 75,000 had ASD. Autism is a developmental disorder that affects how people learn, behave, communicate and interact with others.

Autism is estimated to affect one in 36 American children. Here, a Brazilian woman bonds with her daughter, who is listening to an autism podcast. Alexis Scholtz/peopleimages.Com – stock.Adobe.Com

Girls born with CMV had 4.65 times the autism risk, while boys had about twice the risk compared to their peers without the condition.

The study findings were published in the June issue of the American Academy of Pediatrics journal Pediatrics.

"This data should prompt us as clinicians to proactively monitor for early signs of autism in children with congenital cytomegalovirus," said lead study author Dr. Megan Pesch, a developmental behavioral pediatrician at University of Michigan Health C.S. Mott Children's Hospital.

"This may be especially critical for children who are deaf or hard of hearing since diagnosing autism in this population can be particularly challenging," added Pesch, whose daughter has congenital CMV and autism.

The link between congenital CMV and autism — which is estimated to affect one in 36 American children — has been suggested since the 1980s.

The idea is that CMV can activate an inflammatory state that may affect fetal brain development, thus increasing the risk of ASD.  

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Pesch is calling for routine neonatal screening for CMV, which is often symptomless in pregnancy and at birth.

"Universal congenital CMV screening may not only improve detection before symptoms develop and lead to more timely intervention but also help us clarify the risk of autism among this population," Pesch said. "Most importantly, this provides an opportunity to best support these children and their families."


Immune Monitoring After Transplant Reduces Antiviral Overuse For CMV

Photo Credit: Dr Microbe

Immune monitoring post-solid-organ transplant reduces the duration of antiviral prophylaxis without having a higher risk for developing CMV infection.

The development of cytomegalovirus (CMV) infection has been shown to decrease allograft survival in patients who have received a solid-organ transplant. It has been shown that patients at immediate risk for CMV infection are CMV-seropositive and have received antithymocyte globulins. Although the conventional course of treatment to prevent CMV in these patients is prophylaxis with an antiviral drug, this approach has been associated with toxicity and increased healthcare costs.

Immune Monitoring

The use of assays to gage CMV-targeted T cell-mediated immunity has only received limited study. Oriol Manuel, MD, and colleagues developed an open-label, non-inferiority, randomized clinical trial focusing on kidney and liver transplant recipients to address this knowledge gap. When asked about the need for this type of clinical study, Dr. Manuel explained, "CMV infection remains a significant opportunistic infection in solid-organ transplant recipients. There are few biomarkers to determine the risk for infection after transplant. We wanted to use a novel assay that measures the immunity against CMV to decide the duration of the antiviral preventive drugs, a strategy called immune monitoring."

The study team enrolled participants in the trial from six healthcare centers in Switzerland after having undergone a kidney or liver transplant; the study included 193 patients. These transplant recipients were CMV-seronegative with seropositive donors, which put them at high risk for CMV complications, or CMV-seropositive receiving antithymocyte globulins, which put them at immediate risk for CMV complications.

The researchers randomly separated participants into two cohorts: the intervention cohort (n=92), which received antiviral prophylaxis based on immune monitoring, and the control cohort (n=101), which received a fixed duration of antiviral prophylaxis. The control cohort was subsequently divided into two groups—patients who were CMV-seronegative and were scheduled to receive 180 days of valganciclovir and patients who were CMV-seropositive and received 90 days of valganciclovir.

Assay Applied

During the study, the participants were monitored once a month using the CMV ELISpot assay (T-Track CMV) based on the highly sensitive ELISpot technique (enzyme-linked immunosorbent spot). This method enables the detection of CMV-specific protein-reactive effector cells. The researchers found that the length of time the prophylaxis was administered was significantly shorter in the immune-monitoring group (adjusted difference, −26.0 days; 95%, CI, −41.1 to −10.8 days; P<0.001).

"We found that by using immune monitoring, we were able to reduce the duration of antiviral prophylaxis without having a higher risk for developing CMV infection," Dr. Manuel shared. Furthermore, Dr. Manuel and his colleagues are exploring the potential application of immune monitoring in practice. He said, "Immune monitoring allows [the practitioner] to individualize the duration of antiviral prophylaxis in a given patient, so reducing costs and drug toxicity. We are now evaluating whether the use of these assays is feasible in the routine clinical practice."

Dr. Manuel hopes that the findings of this study can be applied to further research, "We only evaluated the assays in kidney and liver transplant recipients. This strategy would need to be evaluated in larger trials, including other organ transplant recipients."


Hearing Loss

Hearing is something most of us take for granted. But have you ever thought about those who eventually lose the ability to hear, or those who cannot hear at all? Well, we asked Dr Reddy Sivaprasad, Head – Training & Clinical Devt. Amplifon (India) Pvt. Ltd about hearing loss and how people with the decreased ability to hear can get tested.

Causes

Hearing loss can be present at birth (congenital) or become evident later in life (acquired deafness). The distinction between acquired and congenital deafness specifies only the time that the deafness appears.

Risk Factors

According to the Journal of Pediatrics, 12.5% of kids between the ages of 6 and 19 suffer from loss of hearing as a result of using ear phones/buds turned to a high volume. Young people are actually vulnerable to hearing loss due to their excessive use of listening to music at overly high/ loud volumes (using personal music systems/ music at discotheques).

Exposure to loud noise in certain occupations from sources such as construction machinery, heavy equipment, or amplified music can cause permanent sensorineural hearing loss in people of all ages and is the second most common cause of hearing loss.

Other sources of excess noise include attendance at concerts and nightclubs, and use of music headphones, household power tools, or firearms. The louder the noise and the longer a person is exposed to it, the greater their risk of this type of hearing loss. To prevent this type of hearing loss it is important to wear proper hearing protection and avoid exposure to loud noise whenever possible.

Symptoms

The first sign of hearing loss is a difficulty in hearing speech clearly in certain daily life situations. For example, difficulty with cross-conversations, hearing at a distance such as in meetings, listening to the TV or radio, or hearing in large buildings where there may be echoes such as in churches or auditorium.

Other signs include difficulty in hearing certain speech sounds or tones clearly. For example, you may be unable to distinguish similar sounding words or hear higher pitched voices, such as those of children. Aging is a very common cause of hearing loss.

Usually hearing loss is first noticed by others around you. Detecting and treating hearing loss early is a significant step towards improving the quality of your life. If you feel you have trouble understanding speech in any two different situations of life or more, it is time for you to visit an Audiologist.

Experience and the research suggests that untreated hearing loss can lead to a variety of complications, the most common one being the less (treatment) responsive hearing loss, over time. Other immediate complications include getting isolated in the immediate family, workplace and society and less productivity at the work place.

Diagnosis

Audiometry is the testing of hearing capacity that quantifies the total hearing/loss. There are various different ways to test hearing depending on the age of the person involved and the type of hearing loss. In order to test middle ear condition, it is customary to administer Impedance testing in some cases.

To determine the degree of hearing loss of an individual, a series of tests needs to be done by certified audiologist.  Based on the degree of loss hearing can be classified as -

  • Mild: 25-40 dB HL
  • Moderate:  41-55 dB HL
  • Moderately Severe:  56-70 dB HL
  • Severe: 71-90 dB HL
  • Profound> 90 dB HL
  • Babies and young children are obviously not able to say when they have heard a sound (like adults do), so special methods are used. In children the principles of testing may be the same, but the way in which the tests are carried out may be varied to get the most accurate results. There are also additional tests which help to check how well the middle ear and the brain are working in the hearing pathway.

    Two common tests are used to screen newborn infants for hearing loss:

  • Auditory brain stem response (ABR) test: This test uses patches, called electrodes, to see how the auditory nerve reacts to sound.
  • Otoacoustic emissions (OAE) test: Microphones placed into the baby's ears detect nearby sounds. The sounds should echo in the ear canal. If there is no echo, it is a sign of hearing loss.
  • Testing in older children and adults

    Testing in adults mainly uses a technique called pure tone audiometry. This uses a machine called an audiometer to play a series of tones through headphones. The tones vary in pitch (frequency, measured in hertz) and loudness (intensity, measured in decibels).

    The health professional conducting the test will control the volume of a tone and reduce its loudness until you can no longer hear it. The results of the test are plotted on a special graph called an Audiogram which helps to show the pattern of any hearing loss.

    Treatment

    The first step is to have a routine hearing check for monitoring the hearing loss and to take appropriate steps to maintain the amount of hearing ability left. It is recommend one get frequent and regular checks, hearing rehabilitation strategies or the use of hearing instruments. Acquiring a hearing aid is not a decision made lightly and you must visit a good audiologist who can help you choose the best way to help you hear better. 

    Complications

    A gradual hearing loss can often make people feel isolated as they find it difficult to carry on conversations with family or friends. One of the main impacts of hearing loss is on the individual's ability to communicate with others. Spoken language development is often delayed in children with deafness. Limited access to services and exclusion from communication can have a significant impact on everyday life, causing feelings of loneliness, isolation and frustration, particularly among older people with hearing loss.

    Importantly, it can also increase risk both at home and in the workplace, for example, not hearing a warning alarm. If a person with congenital deafness has not been given the opportunity to learn sign language as a child, they may feel excluded from social interaction. Hearing care in India is at a nascent stage for various reasons like the discomfort of wearing a hearing aid, the unawareness to problems related to hearing deficiencies. However, with various developments in technology today we are able to provide customized hearing care solutions.

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