This breakthrough in gene therapy has shown promising results in restoring hearing to individuals with congenital deafness or severe hearing impairment. A recent study published in the journal Nature Medicine involved researchers from Karolinska Institutet and hospitals in China. The study comprised ten patients, aged 1-24, all of whom had a genetic form of deafness caused by mutations in the OTOF gene.

The gene therapy involved using a synthetic adeno-associated virus (AAV) to deliver a functional version of the OTOF gene to the inner ear via a single injection. The results were remarkable, with all patients showing some improvement in their hearing after just one month. A six-month follow-up showed considerable hearing improvement, with an average volume of perceptible sound improving from 106 decibels to 52.

The younger patients, particularly those between the ages of five and eight, responded best to the treatment. One notable participant was a seven-year-old girl who quickly recovered almost all her hearing and was able to hold daily conversations with her mother four months after the treatment.

Dr. Maoli Duan, consultant and docent at the Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Sweden, expressed excitement about the results, stating, “This is a huge step forward in the genetic treatment of deafness, one that can be life-changing for children and adults.”

The study also showed that the treatment was safe and well-tolerated, with no serious adverse reactions reported. The most common adverse reaction was a reduction in the number of neutrophils, a type of white blood cell.

Dr. Duan emphasized that this is just the beginning, with further research underway to explore other genes that cause deafness, such as GJB2 and TMC1. These more complicated cases may require additional treatments, but animal studies have shown promising results, giving researchers confidence in their ability to develop effective treatments for different types of genetic deafness.

This breakthrough has the potential to revolutionize the treatment of hearing impairment and offer new hope to individuals who have been living with this condition for years. As Dr. Duan aptly put it, “OTOF is just the beginning,” implying that more research will be conducted to find effective treatments for other genes related to deafness. The future looks bright for those affected by genetic deafness, and researchers are committed to making a positive impact on their lives.

The diagnosis of Attention Deficit Hyperactivity Disorder (ADHD) often sparks controversy when it comes to adults. While originally developed for children, the diagnostic criteria can be difficult to apply in grown-ups. This is partly because the criteria are based on child behavior, and when diagnosing adults, these criteria rely heavily on subjective experiences such as difficulty concentrating or being impulsive.

A recent study from the University of Copenhagen and the University of Sao Paulo in Brazil shed light on this issue, examining how 292 credible studies on ADHD diagnosed their adult subjects. The researchers found that half of the studies did not ensure a thorough diagnostic assessment before the trial to rule out other disorders like depression or schizophrenia. This methodological shortfall is problematic because it makes it impossible to know which disorders and symptoms the treatment investigated in these trials potentially had an effect on.

Moreover, over half of the studies included subjects who had already been diagnosed with other mental disorders, making the diagnosis even more challenging. The researchers pointed out that this lack of consistency in diagnostic assessment can make research results from many clinical trials difficult to utilize. Despite being considered particularly trustworthy, the results of these trials may inform guidelines used to treat adult ADHD patients.

The study’s findings emphasize the need for consistent and robust diagnoses in psychiatric research. One of the problems with the diagnostic assessment in many of the clinical trials was that it seemed to have been carried out by individuals without proper training or using methods that were not thorough enough. In some cases, the assessment and diagnosis were made by the subject themselves, or even with the help of a computer.

As Julie Nordgaard highlighted, “In psychiatry, we really need all diagnoses, not just ADHD, to be made with the same uniform criteria and by trained professionals.” This is especially crucial in situations where a diagnosis like adult ADHD is increasing. Without thorough diagnostic assessments, people may receive incorrect diagnoses, and thus, ineffective or unnecessary treatment that can cause side effects.

The study’s conclusion serves as a reminder of the importance of rigorous methodology and consistency in psychiatric research. By prioritizing accurate diagnoses and thorough assessments, researchers can ensure that their findings are reliable and useful for informing guidelines and treatments for patients with complex mental health conditions like adult ADHD.

Synthetic storm: The Alarming Rise of THC, CBD, and SCs Vaping Among US Adolescents

Research has revealed that adolescent vaping of current delta-9-tetrahydrocannabinol (THC), cannabidiol (CBD), and synthetic cannabinoids (SCs) has increased between 2021 and 2023. This trend is particularly alarming given the lack of understanding about the long-term health effects of cannabis vaping.

The study, published in the American Journal of Preventive Medicine, analyzed national trends of adolescent cannabis vaping from the National Youth Tobacco Survey for 2021, 2022, and 2023, comprising a total of 69,899 US middle and high school students (aged 11 to 18 years).

Lead investigator Jack Chung, BApsych (Hons), National Centre for Youth Substance Use Research, and School of Psychology, Faculty of Health and Behavioural Sciences, The University of Queensland, says, “We found a significant increase in adolescent vaping of THC, CBD, and SCs from 2021 to 2023. THC vaping peaked in 2022 while the use of SCs continued to increase. Adolescents increasingly expressed uncertainty about the substances they were vaping; for example, uncertain respondents answering ‘don’t know’ if they have vaped SCs tripled across the years.”

In 2023, it is estimated that 7.4% (or 2.55 million) of US adolescents were currently vaping THC, while 2.9% (or 999,000) were vaping CBD, and 1.8% (or 620,000) were vaping SCs.

Individuals who vape cannabis exhibit more mental health symptoms compared to those who use traditional combustion methods of dry herbs and flowers. SCs are typically lab-synthesized to mimic the effects of naturally occurring cannabinoids and often bind more strongly to brain receptors, leading to more intense and unpredictable health consequences.

Mr. Chung remarks, “One of the most unexpected findings from our study was the continued rise in adolescent use of SCs. This trend is particularly alarming given that these substances are often accessed through unregulated, illicit markets, where there are no safety standards or quality controls.”

Co-investigator Gary C.K. Chan, PhD, National Centre for Youth Substance Use Research, Faculty of Health and Behavioural Sciences, The University of Queensland, adds, “We still know very little about the long-term health effects of cannabis vaping, which makes it even more important to understand what’s in your vape.”

This study is one of the first to track national adolescent vaping prevalence of THC, CBD, and SCs independently, given that most recent studies categorized various cannabinoids vaping under the umbrella term “cannabis vaping,” despite their vastly different psychological and health effects.

Mr. Chung concludes, “Experimentation with substance use among teenagers is often driven by peer influence, curiosity, and a desire for social acceptance. This age group may also be increasingly exposed to cannabis-related marketing on social media platforms such as TikTok and YouTube, as well as social media influencers and celebrities.”