New research points to a genetic component to autism.

Scientists have been scanning the human genome for differences between people who have an autism spectrum disorder (ASD) and those who do not. The largest study was done by researchers at the University of Pennsylvania School of Medicine, which examined over 10,000 individuals.

The research found some genetic variants commonly associated with ASD, all of them pointing to two specific genes found on chromosome 5 that controls the production of proteins, which help cells stick or “adhere” to each other and make connections between neurons. One of the variants, which is linked to a gene called CDH10, was present in over 65 percent of people with autism. Scientists calculated that repairing or replacing it would reduce the number of autism cases by 15 percent.

ASD was also linked to another group of about 30 genes in which proteins play an important role in enabling brain cells to migrate to correct places allowing them to connect to adjacent cells. Other findings included locating specific genes involved in a cellular waste system which may be involved in the regulation of the function of the "adhesion" proteins.

According to Professor Simon Baron-Cohen, an autism expert at the University of Cambridge, 133 genes have so far been linked to ASD and work was needed to determine how they interacted with each other and the environment. He said, "The puzzle is slowly being pieced together, and the science of autism is accelerating in promising ways."

The National Autistic Society continues to say that the exact causes of autism are unknown. According to the National Autistic Society, "There is evidence to suggest that genetic factors are responsible for some forms of autism. However, the difficulty of establishing gene involvement is compounded by the interaction of genes and by their interaction with environmental factors. Various studies over many years have sought to identify candidate genes but so far inconclusively."

We have two series on autism. Unlocking the World of Autism: 7 Keys to Becoming Miracle Minded is our newest addition and was developed by Elaine Hall, creator of the HBO’s Emmy^® award winning documentary, Autism: The Musical. This seven-part series is a practical guide to understanding autism and building relationships with children with the disorder. It progresses through seven integrated and sequential keys to accessing autism and making connections with children on the spectrum. Our other series, Autism Spectrum Disorders, compares the different syndromes as well as explores causes of the ASD, the signs and symptoms seen, tests performed to confirm the diagnosis, and interventions used in its management.

A new study reveals that routine screening for diabetes could result in significant health-care related savings.

New research from the Emory University concluded that routine screening of individuals for diabetes is an effective way to reduce the cost of health care. "The economic costs of diabetes threaten the financial integrity of our health care systems," says study co-author Lawrence S. Phillips, MD, Emory University School of Medicine Professor of Medicine, Division of Endocrinology.

"We asked whether there is economic justification for screening for pre-diabetes and unrecognized diabetes since early treatment could help prevent or delay development of diabetes and its complications and reduce associated costs."

• costs for routine screening for diabetes as well as treatment and life style changes for those individuals with positive results was between $180,000 and $186,000 over three years.
• cost of care of patients with no screening who had only these diagnostics when symptomatic was about $206,000.
  

Silent heart attacks are more common than previously thought.

Each year, almost 200,000 Americans suffer silent heart attacks without realizing it. According to researchers from Duke University Medical Center, unrecognized myocardial infarction (UMI) can be hard to detect if it took place in the distant past. In addition, because it often goes unnoticed by the victim, it is associated with a high risk of untimely death.

"No one has fully understood how often these heart attacks occur and what they mean, in terms of prognosis," said Duke cardiologist Han Kim, MD, the lead author. "With this study, we can now say that this subset of heart attacks, known as non–Q-wave UMIs, is fairly common, at least among people with suspected coronary artery disease."

To detect heart attacks that happened in the distant past, physicians rely on specific changes in the Q-wave on an EKG, which signals damage of heart tissue; however, many UMIs do not result in Q-waves, thus previous UMIs may go undetected.

The Duke researchers employed a technique known as delayed enhancement cardiovascular magnetic resonance, or DE-CMR, to examine 185 patients suspected of having coronary artery disease but who had no record of any heart attacks. These patients were studied for two years. The scientists noted that 35 percent of them had evidence of a heart attack, and that non–Q-wave UMIs were three times more likely than Q-wave attacks. They also discovered that individuals who had non–Q-wave attacks had a risk of death due to heart attacks that was 17 times higher than patients with no heart damage.

"If patients with UMIs happen to be identified, they are usually treated similarly to those patients where heart disease has already been documented," Dr. Kim said.

Heart disease, which is the number one killer in the United States and according to the American Heart Association claimed almost 900,000 lives in 2005, is featured in many our programs including Cardiac Disorders: Heart Failure, Cardiac Disorders: Coronary Artery Disease, and Electrical Therapy for the Heart. Rhythm strip interpretation is discussed in Code Blue and 3-Lead EKG.

"The earlier guidelines recommended weight gain that would be optimal for the baby. These new guidelines take into account the well-being of the mother as well. This is a fundamental and important change," said Kathleen M. Rasmussen, ScD, professor of nutrition at Cornell University and chair of the guidelines committee.

These new criteria are based on the World Health Organization cutoff points for body mass index (BMI) categories, unlike the earlier guidelines that were based on weight categories taken from the Metropolitan Life Insurance tables. In addition, they recommend a more narrow range of weight gain for obese women.

The recommended weight gain for each category of prepregnancy BMI is:

• Underweight (less than 18.5 kg/m2): total weight gain between 28 and 40 pounds
• Normal weight (18.5 to 24.9 kg/m2): total weight gain between 25 and 35 pounds
• Overweight (25.0 to 29.9 kg/m2): total weight gain between 15 and 25 pounds
• Obese (more than 30.0 kg/m2): total weight gain between 11 and 20 pounds

"Women who gain within these guidelines will do better than if they gain outside of them. We have good evidence for this," said Dr. Rasmussen.

According to Dr. Rasmussen, 55 percent of American women between the ages of 20 and 39 years are overweight. About half of them are obese; 8 percent of obese women are severely obese with a BMI of 40 kg/m2 or greater.

Dr. Rasmussen stated that getting obese women to restrict their gestational weight gain to no more than 20 pounds would be challenging, but not impossible. "The studies that we reviewed showed that many obese women gain progressively less weight the heavier they are. We also think that if these women are counseled about the importance of restricting their weight gain, they can be successful. For example, in a study from Denmark, obese women who were given individualized care and attention were able to restrict their weight gain during pregnancy and achieved better outcomes. We realize that it will be difficult and expensive to achieve this, but we think it is worth trying to replicate such experience here."

The new guidelines stress the importance of preconception counseling so that women of childbearing age are at a healthy weight before they become pregnant. Although there are no data at this time about the effects of prepregnancy counseling, Dr. Rasmussen said, “These data provide a strong reason to assume that interventions will be needed to assist women, particularly those who are overweight or obese at the time of conception, in meeting the guidelines. These interventions may need to occur at both the individual and community levels and may need to include components related to both improved dietary intake and increased physical activity."

The new recommendations also suggest that research on diet, physical activity, food insecurity, and social and environmental factors that influence gestational weight gain be supported financially.

Although the new guidelines may be applicable to women in other developed countries, they are not intended for use in areas of the world where women are shorter or thinner than women in the United States or where adequate obstetric services are unavailable, Dr. Rasmussen added.

Our series, High Risk OB; Pregnancy, Labor, and Delivery; and Human Development: Conception to Neonate, discuss the importance of prenatal care, including weight gain.

Although researchers believe that environmental exposures are driving the rise in type 1 diabetes in children at this time, no one is clear about what those exposures are.

Once known as juvenile or insulin-dependent diabetes, type 1 is much less common than type 2 diabetes, except among children and adolescents. The most common age of diagnosis has been the early teen years, but epidemiologist Christopher C. Patterson, PhD, of Ireland's Queen's University, says that may be shifting toward younger children. "We are likely to see more children with severe diabetes complications presenting at earlier ages if we fail to recognize and adequately treat disease in very young patients," he stated.

Dr. Patterson and colleagues analyzed data on more than 29,000 children with type 1 diabetes between 1989 and 2003. Their findings included that:

• the overall increase in incidence of type 1 diabetes was 3.9 percent per year.
• the increase was greatest among children less than five years, who saw increases of 5.4 percent per year compared to an annual increase of 4.3 percent in children between the ages of five and nine years and 2.9 percent in youngsters between the ages of 10 and 14.
• if current trends continue, the total cases of type 1 diabetes in children are projected to rise by 70 percent by 2020 and rates among children under five years will double.

Dr. Patterson believes that because the increases are occurring so quickly, environmental influences are a huge factor. Researchers are examining a wide range of possible triggers, including early-life diet, viral infection, and even C-section delivery. But they still have more questions than answers. Dr. Patterson added, "Being born to an older mom and C-section birth seem to be associated with slight increases in risk, but neither one of these is sufficient to explain the increases we are seeing."

Dana Dabelea, MD, PhD, a University of Colorado epidemiologist, said that one of the key areas of interest is rapid early growth due to improved early-life nutrition. She is a co-investigator on the SEARCH for Diabetes in Youth Study, which follows children with both types 1 and type 2 diabetes in different parts of the United States to better understand diabetes trends in pediatrics. In 2007, Dabelea noted a higher-than-predicted rate of type 1 diabetes in youngsters that occurred most often in non-Hispanic Caucasian children.

Dr. Dabelea has urged for more research on diabetes in children. In an editorial accompanying the new study she wrote, "It is imperative that efforts directed at surveillance of diabetes in young people continue and expand, not only to understand its complex etiology, but also because of the increasing public health importance."

Our new series, Diabetes: Physiology and Pathophysiology, discusses the demographics, etiologies, signs, symptoms, monitoring, treatment modalities, complications, and prevention strategies for both types 1 and 2 diabetes.

According to data just released, the death rate from cancer in the United States continues to decline

New data show that the cancer death rate in the United States fell again in 2006, thus continuing a slow downward trend that many experts believe is attributable to reductions in smoking, earlier detection, and better treatment.

In a statement released by the American Cancer Society, approximately 560,000 people died of cancer in 2006. This number indicates that the death rate fell by less than 2 percent, which is better than the previous year.

While the American Cancer Society applauded the progress, others stated that the change was not significant. "The improvement was modest," said Dr. Michael Goodman, an Emory University researcher who specializes in cancer statistics. Cancer is the second leading cause of death in the United States, behind heart disease. It accounts for nearly a quarter of annual deaths, but that rate has been falling since the early 1990s.

The new rate is 181 cancer deaths per 100,000 people, which was down from about 184 in 2005. However, there must be a rate decline of at least two percent to offset population growth and cause a drop in the actual number of cancer deaths. This decline was noted in 2002 and 2003, but it has not happened since.

The reasons for the decline in the death rate are related to specific types of the disease. For example, better screening for colon cancer, treatment advances for leukemia, and smoking cessation are all factors in the reduced number of deaths.

Lung cancer accounted for nearly 30 percent of cancer deaths in 2006. Cancers of the colon and rectum were responsible for 10 percent, breast cancer in females about 7 percent, and prostate cancers in men about 5 percent.

Concept Media has a huge library on oncology: Basic Genetics for the Oncology Nurse, Managing Physical Assessments and Supportive Cancer Care, Caring for the Patient with Breast Cancer, Leukemia: Implications of the Initial Diagnosis, Symptom Management for the Patient with Lung Cancer, Chemotherapy Administration for the Oncology Nurse, Preventing Medication Errors for the Oncology Nurse, Sepsis and Disseminated Intravascular Coagulopathy, Tumor Lysis Syndrome and Pleural Effusion, Symptom Management for the Radiation Oncology Patient, Traditional Pain Management in Oncology Treatment, Alternative Pain Management in Oncology Treatment, Guided Visualization: Working with the Healing Power of Your Immune System, Cancer as a Family Diagnosis: Supporting the Caregivers, and Cancer: Supporting Couples and Children.