Genome Sequencing Identifies Some Forms of Potentially Treatable Intellectual Disabilities

MedicalResearch.com Interview with:

Dr. Clara van Karnebeek PhD Certified Pediatrician and Biochemical Geneticist at the BC Children’s Hospital Principal Investigator, University of British Columbia

Dr. Clara van Karnebeek

Dr. Clara van Karnebeek PhD
Certified Pediatrician and Biochemical Geneticist at the BC Children’s Hospital
Principal Investigator, University of British Columbia

MedicalResearch.com: What is the background for this study?

Dr. van Karnebeek: The goal of the study was to diagnose patients with genetic conditions and discover and describe new diseases with potential for treatment. The study included patients with neurodevelopmental conditions that doctors suspected were genetic or metabolic in origin but had not been diagnosed using conventional methods. Our team tested the children and their parents using a combination of metabolomic (large scale chemical) analysis and a type of genomic sequencing called whole exome sequencing. With this state-of-the-art technique, experts analyze and interpret the portion of DNA called genes that hold the codes for proteins.

Some people’s intellectual disability is due to rare genetic conditions that interfere with the processes the body uses to break down food. Because of these metabolic dysfunctions, there is an energy deficit and build-up of toxic substances in the brain and body leading to symptoms such as developmental and cognitive delays, epilepsy, and organ dysfunction. Some of these rare diseases respond to treatments targeting the metabolic dysfunction at the cellular level and range from simple interventions like dietary modifications, vitamin supplements and medications to more invasive procedures like bone marrow transplants. Because the right treatment can improve cognitive functioning or slow or stop irreversible brain damage, early intervention can improve lifelong outcomes for affected children and their families.

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Health Care Still Better At Extending Life Than Preventing Disability

MedicalResearch.com Interview with: Prof. Carol Jagger AXA Professor of Epidemiology of Ageing and Deputy Director of the Newcastle University Institute for Ageing (NUIA) Institute of Health & Society Campus for Ageing and Vitality Newcastle upon Tyne Medical Research: What is the background for this study? Prof. Jagger: Although we know that life expectancy at older ages is increasing, there is still uncertainty about whether the extra years are healthy ones. Our results are based on data from the Cognitive Function and Ageing Studies (CFASI and II), two cohorts of people aged 65 years and over in three centres in England (Cambridgeshire, Newcastle and Nottingham) who were interviewed in 1991 and 2011. The participants, over 7000 people in each study, were recruited from general practices in the area and included those living in care homes to ensure our results reflect the total older population. Medical Research: What are the main findings? Prof. Jagger: We used three health measures to calculate the health expectancies at age 65: cognitive impairment, self-perceived health and disability (mild and moderate/severe). Over the 20 year period women’s life expectancy at age 65 increased by 3.6 years whilst they gained 4.4 years free of cognitive impairment, 3.1 years in good self-perceived health but only 0.5 years free of disability. Men on the other hand lived an extra 4.5 years in total with gains of 4.2 years free of disability, 3.8 years in good self-perceived health and 2.6 years free of disability. So all the extra years of life were free of cognitive impairment for women but most were spent with disability, although the gains were in mild rather than more severe disability. Medical Research: What should clinicians and patients take away from your report? Prof. Jagger: Health services still seem to be much better at saving lives than reducing the disabling consequences of diseases. Clinicians should optimally manage pain and recommend therapies to ensure that older people with mild disability can remain active. Medical Research: What recommendations do you have for future research as a result of this study? Prof. Jagger: Our future research will explore which diseases and conditions are responsible for the increase in mild disability and whether inequalities between social groups in disability-free life expectancy have widened over the 20 years. Citation: A comparison of health expectancies over two decades in England: results of the Cognitive Function and Ageing Study I and II Jagger, Carol et al. The Lancet DOI: http://dx.doi.org/10.1016/S0140-6736(15)00947-2

Prof. Jagger

MedicalResearch.com Interview with:
Prof. Carol Jagger

AXA Professor of Epidemiology of Ageing and
Deputy Director of the Newcastle University Institute for Ageing (NUIA)
Institute of Health & Society
Campus for Ageing and Vitality
Newcastle upon Tyne 

Medical Research: What is the background for this study?

Prof. Jagger: Although we know that life expectancy at older ages is increasing, there is still uncertainty about whether the extra years are healthy ones. Our results are based on data from the Cognitive Function and Ageing Studies (CFASI and II), two cohorts of people aged 65 years and over in three centres in England (Cambridgeshire, Newcastle and Nottingham) who were interviewed in 1991 and 2011. The participants, over 7000 people in each study, were recruited from general practices in the area and included those living in care homes to ensure our results reflect the total older population.

Medical Research: What are the main findings?

Prof. Jagger: We used three health measures to calculate the health expectancies at age 65: cognitive impairment, self-perceived health and disability (mild and moderate/severe). Over the 20 year period women’s life expectancy at age 65 increased by 3.6 years whilst they gained 4.4 years free of cognitive impairment, 3.1 years in good self-perceived health but only 0.5 years free of disability. Men on the other hand lived an extra 4.5 years in total with gains of 4.2 years free of disability, 3.8 years in good self-perceived health and 2.6 years free of disability. So all the extra years of life were free of cognitive impairment for women but most were spent with disability, although the gains were in mild rather than more severe disability.

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More Adults Homebound Than In Nursing Homes

Katherine Ornstein, PhD MPH Assistant Professor Brookdale Department of Geriatrics and Palliative Medicine Institute for Translational Epidemiology Icahn School of Medicine at Mount Sinai One Gustave L. Levy Place, Box 1070 New York, NY 10029MedicalResearch.co Interview with:
Katherine Ornstein, PhD MPH
Assistant Professor
Brookdale Department of Geriatrics and Palliative Medicine
Institute for Translational Epidemiology
Icahn School of Medicine at Mount Sinai
New York, NY 10029

Medical Research: What is the background for this study? What are the main findings?

Dr. Ornstein: Although we are rapidly expanding services to support the medically complex homebound population there are no precise measures or estimates of the homebound population in the U.S.

We have provided the first national estimates of the homebound population in the U.S. Almost 6% of the community-dwelling Medicare population, or 2 million Americans, are homebound, meaning they rarely or never leave the home.  An  additional 15% of the population (6 million) may be at risk of becoming homebound because they only leave the home with another person, or have difficulty doing so alone.

What should clinicians and patients take away from your report?

Dr. Ornstein: 2 million older Americans are homebound. This estimate is larger than the current U.S. nursing home population. Our proposed definitions and national prevalence estimates may be helpful for developing and evaluating the effectiveness of initiatives and programs to care for the homebound, an area of particular importance given Medicare home health payment reform and an overall shift toward more value-based payments.

Currently, only 12 percent of those who are completely homebound report that they received primary medical care services at home.  How do the vast majority receive medical care? There is clearly a need to support the ongoing development and dissemination of home-based primary care.

Medical Research: What recommendations do you have for future research as a result of this study?

Dr. Ornstein: We have created definitions of the homebound  to help determine eligibility for services and facilitate long-term estimates of this population for research and service development

Recognition of the vast number of individuals in the U.S. who are unable to get out of the home at all or without help has important societal implications in terms of future planning for this growing population, e.g., medical and home care, housing,  transportation needs. If we consider population growth estimates, the number of homebound individual will likely double in 50 years.

While homebound individuals have more chronic illness and disability, our work suggests that homebound status may also be due to social, psychological, and environmental phenomena.  There is a sizeable group of individuals who are not homebound because they have caregivers who help them to get out. Additionally, future work should examine the role of environmental factors in contributing to homebound status. For example, an individual may be homebound simply because they live in a “walk up apartment”

Citation:

MedicalResearch.co Interview with: Katherine Ornstein, PhD MPH, Assistant Professor, & Brookdale Department of Geriatrics and Palliative Medicine (2015). More Adults Homebound Than In Nursing Homes 

Disability At End Of Life Linked To Number Of Acute Hospitalizations

Thomas M. Gill, M.D Humana Foundation Professor of Medicine (Geriatrics) Professor of Epidemiology (Chronic Diseases) and of Investigative Medicine Director Yale Program on Aging and Yale Center for Disability and Disabling Disorders Director, Yale Training Program in Geriatric Clinical Epidemiology and Aging-Related ResearchMedicalResearch.com Interview with:
Thomas M. Gill, M.D
Humana Foundation Professor of Medicine (Geriatrics)
Professor of Epidemiology  and of Investigative Medicine
Director Yale Program on Aging and Yale Center for Disability and Disabling Disorders
Director, Yale Training Program in Geriatric Clinical Epidemiology and Aging-Related Research

Medical Research: What is the background for this study? What are the main findings?h

Response: Understanding the disabling process at the end of life is essential for informed decision-making among older persons, their families, and their physicians.

We know from prior research that the course of disability at the end of life does not follow a predictable pattern for most older persons.  This raises the question about what is driving the development and progression of disability at the end of life.

We identified six distinct trajectories of disability in the last year of life, ranging from the least disabled to most disabled.  We found that the course of disability in the last year of life closely tracked the monthly prevalence of hospitalization for each of the six trajectories.

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For Most Birth Defects Survival Poorer Among Minorities

MedicalResearch.com Interview with:
Ying Wang, PhD, MPH

Data Management, Analysis & Research
Office of Primary Care and Health System Management
New York State Department of Health
Empire State Plaza  Albany, NY  12237

Medical Research: What is the background for this study? What are the main findings?

Dr. Wang: The purpose of the study was to examine the survival of children with one or more of 21 major birth defects in the United States.  We used data from 12 population-based birth defects surveillance programs that participate in the National Birth Defects Prevention Network.  The study included nearly 100,000 infants born with birth defects between 1997 and 2007.

We found that children who were born with hypoplastic left heart syndrome (a severe congenital heart defect) had the lowest chance of survival across multiple ages (up to 28 days of life, 1 year, 2 years, and 8 years of life), compared to children with any other birth defects studied.  We also found that the chances of survival up to 1 year of life was greater than 90% for babies born with spina bifida, cleft palate, cleft lip with or without cleft palate, pyloric stenosis, gastroschisis, or Down syndrome. For most birth defects, survival was poorer among non-Hispanic black mothers and Hispanic mothers compared to non-Hispanic white mothers.
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Adolsecent Cannabis Use Linked To Increased Later Life Disability

Anna-Karin Danielsson, PhD Project Coordinator Karolinska Institutet Department of Public Health Sciences (PHS) Widerströmska huset| Stockholm, SwedenMedicalResearch.com Interview with:
Anna-Karin Danielsson, PhD
Project Coordinator
Karolinska Institutet
Department of Public Health Sciences (PHS)
Widerströmska huset| Stockholm, Sweden

Medical Research: What are the main findings of the study?

Dr. Danielsson: Smoking cannabis in adolescence increases the risk of adverse social consequences later on in life.
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Intensive Blood Pressure Treatment Did Not Increase Falls or Fractures

Karen Margolis, M.D., M.P.H. Senior Investigator (Director of Clinical Research) HealthPartners Institute for Education and Research Minneapolis, MN, 55440-1524MedicalResearch.com Interview with
Karen Margolis, M.D., M.P.H.
Senior Investigator (Director of Clinical Research)
HealthPartners Institute for Education and Research
Minneapolis, MN, 55440-1524

Medical Research: What are the main findings of the study?

Dr. Margolis: The study compared falls and fractures in patients aged 40-79 with diabetes who were treated for high blood pressure.  One group received treatment that aimed at getting systolic blood pressure under 120, while the other group received treatment to achieve systolic blood pressure under 140. The results show that patients who received intensive blood pressure treatment did not fall more than less intensively treated patients, nor did they incur more fractures over an average follow-up of about five years.
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Neurosurgical Study Finds Long Term Disabled May Adapt To Severe Disability

MedicalResearch:com Interview with:
Stephen Honeybul FDS RCS (Eng), FRCS (SN), FRACS
Consultant Neurosurgeon
Sir Charles Gairdner Hospital
HOD Royal Perth Hospital
Perth WA Australia

MedicalResearch: What are the main findings of this study? 

Dr. Honeybul: Amongst those patients who had been adjudged severely disabled or in a vegetative state at 18 months, remained as such at the three years follow up.

Most patients who were able to provide a response said that they would have provided consent to the “life saving” intervention even if they had known their final outcome
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Low Back Pain: Most Common Cause of Global Disability

Dr Damian Hoy University of Queensland School of Population Health Herston, AustraliaMedicalResearch.com Interview with:
Dr Damian Hoy
University of Queensland
School of Population Health
Herston, Australia

MedicalResearch.com: What are the main findings of the study?

Dr. Hoy: The study was part of the Global Burden of Disease 2010 study, which was conducted by the University of Queensland, Harvard University, Johns Hopkins University, University of Washington, and hundreds of disease experts throughout the globe. It is the largest ever public health study. It compared the overall burden (in terms of both death and disability) of the most common 291 diseases/conditions in the world. Low back pain was found to cause more global disability than any other disease/condition. If this is something you are going through, it may be worth knowing that marijuana strains for back pain is one of the most powerful remedies. You’ve possibly tried everything in the shop and over the counter medicine. So why not give this a go and see how you get on. There’s no harm in trying.
Global disability from low back pain is increasing. There is an urgent need for global, regional and national agencies to pay far greater attention to the disability caused by low back pain. In the developed world there are low back pain therapy treatments available whereas, in the developing world things aren’t as accessible.

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Disabilities Increase Risk of Diabetes

Barbara H. Bardenheier PHD, MPH, MA Division of Diabetes Translation, National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention Atlanta, GAMedicalResearch.com Interview with:
Barbara H. Bardenheier PHD, MPH, MA
Division of Diabetes Translation, National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention
Atlanta, GA

MedicalResearch.com: What are the main findings of the study?

Dr. Bardenheier: Our main findings were that older adults who become disabled, even mildly, are at increased risk of developing diabetes.
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Diabetes: Physical and Functional Disability

MedicalResearch.com Interview with:
Evelyn Wong MBBS (Hons) MPH PhD Candidate

Baker IDI Heart and Diabetes Institute
Level 4, 99  Commercial Rd, Melbourne. VIC 3004

MedicalResearch.com: What are the main findings of the study?

Answer: Researchers at Baker IDI Heart and Diabetes Institute reviewed previously published literature on the association between diabetes and the risk of developing physical and functional disability. In this study, disability was defined by a person’s difficulty walking; carrying out daily activities such as using a telephone or transport, managing finances, shopping; or attending to basic self-care needs such as eating, dressing and bathing. Although there have been many previous studies on diabetes and disability, the findings have varied and to date, no one has pooled all studies together for a combined measure of risk. From 26 relevant studies, we measured the pooled effect of the association between diabetes and disability. We found that diabetes increased the risk of disability by 50-80% compared to those without diabetes and this result was consistent across all types of disability. Continue reading

Obesity and the Disabled Population in New York City

MedicalResearch.com Interview with:
Abigail Franklin
Vice President for Development & Communications
The New York Academy of Medicine

MedicalResearch.com: What are the main findings of the study?

Answer: The New York State Department of Health (NYSDOH) Overweight and Obesity Brief was derived from information gathered for the NYS Behavioral Risk Factor Surveillance System (BRFSS). The BRFSS is an annual statewide telephone survey of adults administered by the provide information on behaviors, risk factors, and utilization of preventive services. The survey conducted in 2011 found that nearly 25% of adults in NYS are obese and another 36% overweight. It also found that obesity rates are higher among adults who are Black (32.5%), earn an annual household income less than $25,000 (26.8%), have less than a college education (27.1%), or are currently living with a disability (34.9%). These findings bring to light that social and economic factors in our communities can be a major contributor to health disparities, like greater risk of obesity among people of color, low income individuals, and people who are disabled.

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