Posted on ADHD, Parkinson's Disease

Large-scale study of brain volume finds genetic links to Parkinson’s disease and ADHD

Researchers from USC and the QIMR Berghofer Medical Research Institute in Australia conducted an international study that revealed hundreds of genetic variants that shape the brain.
Researchers from USC and the QIMR Berghofer Medical Research Institute in Australia conducted an international study that revealed hundreds of genetic variants that shape the brain.

In one of the largest-ever studies of DNA and brain volume, researchers have identified 254 genetic variants that shape key structures in the “deep brain,” including those that control memory, motor skills, addictive behaviours and more.

The research is supported by the Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) consortium. This international effort, based at the Keck School of Medicine of USC, brings together over 1,000 research labs across 45 countries. The goal is to identify genetic variations that impact the structure and function of the brain.

“A lot of brain diseases are known to be partially genetic. From a scientific standpoint, we are aiming to identify the specific changes in the genetic code that cause these,” stated Paul M. Thompson, PhD, who is the associate director of the USC Mark and Mary Stevens Neuroimaging and Informatics Institute and the principal investigator for ENIGMA.

“By conducting research worldwide, we are beginning to pinpoint what has been referred to as ‘the genetic essence of humanity,’” he stated.

Identifying brain regions that are larger or smaller in certain groups, such as people with a specific brain disease, compared to others, can help scientists begin to understand the causes of brain dysfunction. Discovering the genes that control the development of those brain regions provides further insight into how to intervene.

In a recent study partly funded by the National Institutes of Health, a team of 189 researchers from around the world gathered DNA samples and conducted magnetic resonance imaging brain scans to measure volume in key subcortical regions, also known as the “deep brain,” from 74,898 participants. They then conducted genome-wide association studies (GWAS) to identify genetic variations linked to various traits or diseases. The study found gene-brain volume associations that are associated with a higher risk for Parkinson’s disease and attention-deficit/hyperactivity disorder (ADHD).

“There is strong evidence that ADHD and Parkinson’s have a biological basis, and this research is a necessary step to understand and eventually treat these conditions more effectively,” said Miguel Rentería, PhD, an associate professor of computational neurogenomics at the Queensland Institute of Medical Research (QIMR Berghofer) in Australia and principal investigator of the Nature Genetics study.

“Our findings suggest that genetic influences that underpin individual differences in brain structure may be fundamental to understanding the underlying causes of brain-related disorders,” he said.

Studying the deep brain

The researchers analyzed brain volume in key subcortical structures, including the brainstem, hippocampus, amygdala, thalamus, nucleus accumbens, putamen, caudate nucleus, globus pallidus and ventral diencephalon. These regions are critical for forming memories, regulating emotions, controlling movement, processing sensory data from the outside world, and responding to reward and punishment.

GWAS revealed 254 genetic variants associated with brain volume across those regions, explaining up to 10% of the observed differences in brain volume across participants in the study. While previous research has clearly linked certain regions with disease, such as the basal ganglia with Parkinson’s disease, the new study reveals which gene variants shape brain volume with greater precision.

“This paper, for the first time, pinpoints exactly where these genes act in the brain,” providing the beginnings of a roadmap for where to intervene said Thompson,

Posted on Multiple Sclerosis

Multiple sclerosis: medication with cognitive behavioral therapy lower fatigue

Combining treatments was not more effective than either intervention delivered individually
Combining treatments was not more effective than either intervention delivered individually.

A University of Michigan-led study of commonly used treatments for people with multiple sclerosis finds that medical and behavioural interventions, and a combination of the two, result in meaningful improvements in fatigue.

The randomized clinical trial compared the effectiveness of modafinil, a wake-promoting medication used to treat sleepiness in people with sleep disorders, and cognitive behavioural therapy, or CBT, in reducing fatigue for over 300 adults with multiple sclerosis whose symptoms interfered with their daily activities.

Overall, investigators found that treatment with either modafinil or CBT alone, delivered over the phone, significantly reduced fatigue over 12 weeks. 

A combination of both treatments, as did each therapy, also worked, but it did not result in better fatigue scores than the independent interventions.  

“Fatigue is one of the most common and debilitating symptoms of multiple sclerosis, yet there is still uncertainty about how available treatments should be used or how medication-based treatments compare to behavioural treatments in the real world,” said first author Tiffany J. Braley, M.D., M.S., director of the Multiple Sclerosis/Neuroimmunology Division and co-founder of the Multidisciplinary MS Fatigue and Sleep Clinic at University of Michigan Health.

“This research offers new evidence to show that both CBT and modafinil are comparably effective for MS fatigue, which could shape treatment approaches to one of the most challenging symptoms experienced by people with multiple sclerosis.”

Of nearly 3 million people with multiple sclerosis worldwide, up to 90% experience fatigue. Nearly half describe it as their most disabling and impactful symptom.

The research used a real-world approach that more closely resembled clinical practice than traditional clinical trials. It included stakeholders with MS who helped design the study.

More than 60% of participants in each study group reported clinically meaningful improvement in fatigue, which was measured using the Modified Fatigue Impact Scale.

“These treatments, individually and as a combination, should be considered as potential options for people with multiple sclerosis with chronic, problematic fatigue,” said senior author Anna L. Kratz, PhD, professor of physical medicine and rehabilitation at U-M Medical School.

Collaborators at a secondary study site, the University of Washington, contributed to this pragmatic trial.

“This study focused intently on patient-centred outcomes, and our findings highlight the importance of shared decision-making about treatment selection, considering patient characteristics and broader treatment goals,” Braley said.

Trial participants who received only CBT maintained lower fatigue scores at an additional follow-up appointment 12 weeks after the study treatments ended.

CBT has shown robust and durable effects on fatigue in previous research.  

“While many people with multiple sclerosis have limited access to behavioural health care like CBT, offering the treatment through telehealth can help reach more patients,” Kratz said.

“Our study shows that CBT is a feasible treatment that teaches fatigue management skills that can be employed indefinitely, with enduring benefits that last well beyond the treatment period.”

Although the three treatment assignments worked similarly well overall, participants’ sleep habits, or “sleep hygiene”, affected how well the treatment worked for fatigue.

Those with poor sleep hygiene tended to have better fatigue outcomes with CBT, and participants with excellent sleep hygiene showed better fatigue outcomes with modafinil.

“Using wake-promoting medications such as modafinil could worsen sleep quality in patients whose sleep problems are behavioral,” Braley said.

“As sleep disturbances also contribute to fatigue in people with MS, it is important to avoid selecting fatigue treatments that could worsen sleep. Behavioural treatments such as CBT that include sleep education may be preferable for people with MS who have poor sleep habits.”

Posted on Rheumatoid arthritis

Rheumatoid arthritis increases health care costs, harms mental health

Rheumatoid Arthritis

Patients with rheumatoid arthritis spend some $3,000 more than unaffected people per year on medical expenses. The study is the first comprehensive look at the economic and humanistic burden of rheumatoid arthritis. Credit Srijita Chattopadhyay/Ole Miss Digital Imaging Services

A University of Mississippi-led comprehensive study of a disorder affecting 4.27 million Americans nationwide reveals just how significant its burdens are on patients’ financial well-being and quality of life.    

Patients with rheumatoid arthritis, an inflammatory disorder that causes joint pain and reduces mobility, spend an average of $3,383 more per year on healthcare expenses compared to those without the disorder, according to a study published in ACR Open Rheumatology, the journal of the American College of Rheumatology.

“This chronic disease requires ongoing medication,” stated Yinan Huang, assistant professor of pharmacy administration and research assistant professor in the Research Institute of Pharmaceutical Sciences. Huang is the lead author of the study.

“Patients face higher out-of-pocket costs for prescription medications compared to the general population, and their mental and physical health-related quality of life is usually lower than that of the general population. All these factors played a role in motivating us to proceed with this project.”

Huang, along with co-authors Jieni Li, a research assistant professor at the University of Houston, and Sandeep Krishna Agarwal, an associate professor of rheumatology at the Baylor College of Medicine, analyzed data from the Medical Expenditure Panel Survey from 2018 to 2020. Their aim was to understand the challenges and needs of those suffering from the disorder.

About 40% of rheumatoid arthritis patients’ medical expenses were prescription medication, highlighting how steep the cost of managing this illness can be, Li said.  

“It’s a shock for both of us to see that RA patients spend so much on their prescriptions,” Li said. “We all knew that there are new RA treatments like biologics and that those are expensive for the patient, but not to this extent.” 

Huang said a better understanding of the disease can help develop more support systems, policies, and more nuanced care for the population.

“We want to provide solid data to the healthcare communities about the overall comprehensive burden facing this vulnerable group of patients,” she said. “From the financial perspective, I would like to see more focus on the prescription medication-related costs.  

“Some intervention needs to be taken to increase access to treatment because of the costs.” 

Rheumatoid arthritis affects over 18 million people worldwide, with about 70% of those patients being women and 55% being over the age of 55, according to the World Health Organization. This systemic autoimmune disease most commonly affects the joints, but it may also damage the skin, lungs, heart, and eyes.

“If not treated properly, it can result in disability,” she stated. “Arthritis, including RA, is a leading cause of disability in the United States, according to the Centers for Disease Control.”

Besides health care and medication costs, patients with rheumatoid arthritis are also more likely to need daily support to go about their lives. This could be mobility devices such as wheelchairs or walkers, in-home help or other accommodations.  

“From a quality-of-life, humanistic perspective, we all know the burden is huge on these patients,” Li said. “They suffer from limited mobility as well as pain, and so they are more likely to seek these supports. 

“When looking at treatments, we should also consider this factor in the future. What supports (does) this patient have?” 

To treat rheumatoid arthritis better, health care workers must first understand the disease, the researchers said. The next step of their study will include comparing the severity of rheumatoid arthritis pain among patients to determine who is most affected by the disease.  

“These days, people are discussing individualized, personalized care,” Li said. “From the study’s objective, we want to provide more for RA patients.” 

Posted on Diabetes, Diet

Ultra-processed foods pose huge dangers for people with diabetes

Researchers found ultra-processed foods, even diet ones, bring distinct risks for people with diabetes.
Researchers found that ultra-processed foods, even diet ones, bring distinct risks for people with diabetes.

A team of researchers in nutritional sciences, kinesiology, and health education at the University of Texas at Austin has found that eating more ultra-processed foods—from diet sodas to packaged crackers to certain cereals and yoghurts—is closely linked with higher blood sugar levels in people with Type 2 diabetes.

In a recent paper published in the Journal of the Academy of Nutrition and Dietetics, the team describes how, more than just the presence of sugar and salt in the diet, consuming more ultra-processed foods loaded with additives can lead to higher average blood glucose levels over several months, as measured by HbA1C.

“We wanted to understand the impact of different types of foods on blood sugar control in people with Type 2 diabetes,” said Marissa Burgermaster, assistant professor of nutritional sciences at UT and the senior author of the study. “Our findings showed that individuals who consumed more ultra-processed foods had poorer blood sugar control, while those who included more minimally processed or unprocessed foods in their diet had better control.”

The researchers examined the diet recalls and scored them against three widely used indexes that look at the overall quality or nutrition in a person’s diet. Still, those tools were not associated with blood glucose control. Instead, how many grams of ultra-processed food the participants ate or drank was linked to worse control, and a correspondingly better control occurred in participants who ate more whole foods or foods and drinks with minimal processing.

Recent studies have indicated that eating more ultra-processed foods is linked to higher rates of cardiovascular disease, obesity, sleep disorders, anxiety, depression and early death. Ultra-processed foods are typically higher in added sugars and sodium. Still, the researchers concluded that the A1C increases were not about merely added sugar and sodium, or they would have correlated with the tools that measure overall nutritional quality in the diet. Synthetic flavours, added colours, emulsifiers, artificial sweeteners and other artificial ingredients may be in part to blame, hypothesized Erin Hudson, a graduate student author of the paper, and this would suggest that dietary guidelines may need to begin to place more emphasis on ultra-processed foods.

Posted on Autism

Research highlights key challenges and opportunities in transitioning autistic individuals into adulthood

Adults with ADHD are at increased risk for developing dementia
The Autism Transitions Research Project has released new findings that underscore critical challenges and opportunities in transitioning autistic youth into adulthood.

The Autism Transitions Research Project, funded by the Health Resources and Services Administration and led by Drexel University’s A.J. Drexel Autism Institute, has released new findings that highlight critical challenges and opportunities in transitioning autistic youth into adulthood. With approximately 1.2 million autistic individuals expected to reach adulthood in the coming decade, these insights are crucial for shaping future research and services.

The study titled “Challenges and Opportunities in Transitioning Autistic Individuals into Adulthood” was led by Anne M. Roux, a research scientist and director at the Policy Impact Project in the Autism Institute’s Policy and Analytics Center, along with a multidisciplinary team.

The study identifies critical barriers that hinder successful transitions for autistic individuals, including delays in diagnosis and access to services, long waitlists, and an over-reliance on care partners to provide daily support and navigate complex service systems. Funded through the Autism Transitions Research Project grant under principal investigator Lindsay Shea DrPH, the study also emphasizes the importance of cultural considerations and responsiveness, as well as the inclusion of autistic individuals in the development of transition services.

Key findings include:

  • Significant delays in diagnosis and access to transition services exacerbate challenges for autistic youth and their families.
  • There is a critical need for peer navigation support and tailored services for marginalized groups, such as those with intersecting identities.
  • Disparities in service availability across geographic locations.
  • Difficulty accessing essential benefits programs, like Supplemental Security Income, and need to revise benefits programs that reinforce poverty.

Participants in nine focus groups—which included autistic young adults, care partners, and professionals—emphasized the need for research focusing on the efficacy of transition services, the impact of system performance on outcomes, and the need for transformation in service ecosystems.

“This research reflects the perspectives of those most impacted by transition challenges and offers a pathway to more inclusive and effective solutions,” said Roux. “We must prioritize autistic perspectives and account for cultural differences when designing transition services and supports.”

The study’s recommendations include developing population-level research to assess system performance, improving service delivery for marginalized groups, and transforming the complexity of service ecosystems to better support successful transitions for all autistic youth across differing life experiences.