The National Institute of Health in the United States of America held a workshop on the Burden of Muscle Diseases on the above dates. The US congress mandated by law that an estimate of the social and economic impact of these neuromuscular diseases be measured. The following are my notes and information about this meeting. (Richard Weston January 26th 2005) Please note that speakers sometimes talked fast and I could not make notes but we will add the link to the official site when that is one. It is very evident that because of motivation/Apathy Issues in that people with DM are being underreported in the area.
Richard’s Summary: It is important to measure the burden of muscle diseases so that it will be more evident of the impacts and greater resources can be devoted to management and treatment. The social burden is the difference between a person’s expectations and reality. The economic burden will be studied tomorrow. For caregiving the major factors that affect parents is the Child’s behavior and also ambulation (or needed cane or wheelchair). There is a major study ongoing regarding support and DM1 in Canada. This will have interesting and long-lasting results.
Introduction
Moderators
Richard Lymn, PhD/Niams/NIH
Richard Moxley III MD University of Rochester
WorkShop Goals – Richard Lymn
The combined incidence is about 2 per 5000 – this combines all the muscular dystrophies.
Identify the economic and psychosocial components of the burden (Meaning burden of muscle diseases)
Review available data and instruments for collecting data on components
Recommend strategies for developing and improving assessments method
Identify methods useful to assess the burden
Identify measurements that allows us to evaluate the effects of intervention and treatment on the burden
Defining Chronic Muscle Disease – Craig McDonald, UC Davis
Clear definitions available for DM1, FSH, DMD
strong Public and Patient Interest exists
Over time these diseases lead to progressive disability-Increasing needs and burden
Myotonic Dystrophy DM1
Autosomal Dominant (1/8000)
Chromosome 19
Distal weakness and wasting, Multisystem
Anticipation (Worse through generations)
Cognitive dysfunction
Endocrine action
Excessive Sleeping
Congenital Form DM1
Club Foot
Respiratory Problems
NICU
Mothers need to know about disease and impact on children
FacioScapuloHumerial Dystrophy FSHD
Autosomal Dominant
(1/20000) Incidence, indications there is more
Chromosome 4
Facial, Scapular, upper arm, and leg weakness
20% in wheelchair by age 40
Retinal telangiectasias
Muscular Dystrophies – Richard Moxley III
DM1
Cataracts
Respiratory
Heart
Anesthesia
Brain
Endocrine
Pregnancy
Pain
Went over complications and Treatments
Went over the Congenital Forms
FSHD
Went over symptoms and treatments
DMD
Went over symptoms and treatments
Assessing the Burden of an Illness James Schuttinga, Phd NIH
Economist. He is a data user. He deals with questions from congress. Mostly from people who want to spend more money on “THEIR” diseases. He is interested in how this can inform and shape research priorities, disease specific data and comparable data.
Data use- Track population trends, emerging threats, reductions in burden of disease. Support epidemiological investigations, priority setting, inform public
Data needed on disease + Economic Burden
Years lost to premature death
Impact on all dimension of functioning and well being
Sensitivity to differences in Health
Comparables
Timely/Current
Approaches to Burden of Illness in Canada Micheal Wolfson Phd Statistics Canada
National Statistics Office in Canada, Assistant Chief Statistician, Responsible for Health Statistics.
Many people and Competition organizations for dollars and projects
Covers all major Illnesses
Upsteam Causal factors
Downstream sequalae
Reflect main aspects of populations
Rank order and the impact of the disease may have different outcomes
MicroSimulation
Use artificial one person models, Heterogeneous individuals versus homogeneneous groups. This is an interesting concept
Challenge of Generality and Parsimony versus sensitivity and Specificity….
Discussions:
Screening of Mothers and that CMD should be screened in Pregnancy
Newborn Screening may be very helpful
CDC is working on a newborn screening in USA for muscle diseases this may lead to early interventions
Shannon Lord brought up that Doctors needed to be educated in diagnosis of DM1
Margaret Bowler has a successful project
In Quebec, Sending letters to the family to get more genetic counseling. There is a shift now towards the more mild form as more people report and get information and get tested. A strong outreach on Myotonic Dystrophy and genetic counseling’s seems to be well received.
Education in Neurology clinics for new medical doctors is only a short time and the Neurology rotation may be a couple of weeks and maybe a few days in the MDA Clinic
Questions on methodology of the Canadian approach by Dr. Lipsomb Emory University
Newborn screenings cautions (complications) Alternative approaches are being looked at as well. The thought here was to see if screening could help with early intervention
The critical approach is MDA clinic model with interdisciplinary approach need to look at the entire spectrum .of problems. The Experience of seeing a critical mass of volume of patients is critical. Need to look at the prevention of abnormalities, for example Becker patients may have an earlier onset of cardiac myotopathy but this can be delayed with proper treatment. Phone number to leave messages for participants: 301-496-4062. No formal dinners planned but please get together and have dinner.
Personal and Family Factors
Moderators
Craig McDonald, MD UC Davis
Jerry R. Mendell, MD Ohio State University
Introduction- Craig McDonald
Challenges to Education and Careers Steven James Tingus, MS C. Phil Director National Institute on Disability and Rehabilition Research
Lots of slides and information. Resources are not being devoted to this disease because their impact has not been measured yet. Once we get measurements then more resources may be devoted to the dystrophies.
NIDRR: Mission statement is to get info out to help people perform better in society.
Employment:
Higher rates of education correlates with higher employment rates
Unemployment increases with the are and severity of the NMD
Need for assistive Technology increase with age both classroom and work
Higher rates of emotional distress correlate with lower rates of employment for persons with NMD
Consumer and Provider barriers may contribute to employment outcomes. Consumer’s adequate experience with vocational rehabilitation
Biomedical and rehabilitation engineering may provide tools that can expand education and employment opportunities
NIDRR 202 245-7640
Email: Steven.Tingus@ed.gov
http://www.ed.gov/about/office/list/osers/nidrr/indelx.html
Parental Perspectives Pat Furlong Parent Project Muscular Dystrophy
One day genetic counseling experience
Genetic Testing Found out she was a carrier
Need to have follow-up counseling
Discussed all the care issues that come up with families
Costs, economic, loss of ambulation, Wheelchairs, Pharmacology
Lots of costs (individual costs intangible)
Discussed Family and gender differences
Breaks all family members and each must figure out coping mechanism.
Family issue can be overwhelming at times, Grief occurring and ongoing
Tightropewalker without a pole….
You have to make decisions with not a lot of information and background
Vulnerable to those who claim they can sure the disease.
Communities are not well educated on Genetic Diseases, they were the only ones in small town with NMD
Clinical Trials are a two edged sword….
Worst nightmare, as children grew up what happens if the parent dies… Is nursing homes appropriate.
Smooth muscle issues are a big issues as well…
Multi-Generational Aspects – William G. Micheal, CPA FSH Muscular Dystrophy Society
Son died this December at age 35. Served on the FSHD board as CPA Also Karen Johnson also died a week later a good friend and helper in the organization. William concurs with the earlier speaker, Pat Furlong.
Son born 1968, In 1969 wife realized that something was wrong with son. She saw a series of Pediatricians and the first one did not see any issues at all. He felt that the there was a psychological problems with the mother. Children’s hospital in Boston and finally a diagnosis was made. Lots of test and muscle biopsy. He had a scar all his life from this. Diagnosed when he was 4 years old. Now their is a DNA test and probably a shorter period of time to diagnosis
The society helps patients with FSHD. They had a younger daughter and in 1997 she was going to get married and very fearful. She had genetic testing in Canada for the disease and now has 3 beautiful healthy children.
FSH Society
Prevalance 1/20,000
Autosomal Dominant
Skeletal Muscle Weakness
face and scapular stabilizer muscles
Does not shorten lifespan
Can have spontaneous mutations
FSH Society is based in Boston
Views on Disease Management of Muscular Dystrophy – Margaret Bowler, Myotonic Dystrophy Support Group UK
Go Margret! Great honor to be here. They ahve a triangle of care with the aim to improve the quality of Life, To give knowledge understanding and awareness. How:
Local Contacts
Newsletters
Alert Cards
Conference
Hotline Calling Line
Literature
Website
Contact to Specialists
International Links
Challenge 1: Education
Improving the quality of life by addressing the ignorance of: Patients, Families, Health Professionals (Patients do not want to tell relatives. One patient keep secret for 30 years).
They have informational leaflets. The support group has grown
Challenge 2: Awareness
Media:
Literature
Politics
Links to:
Genetic Centers, GIG (genetic Interest Groups), Dr. Harper
LTMA
MDC UK Muscular Dystrophy Campaign
Muscle Networks – Scotland, Wales
Myotonic Dystrophy Support Groups in USA – Shannon Lord, Atlanta GA
She has two sons with Myotonic dystrophy. Shannon is mildly affected. The disease has a multi-systemic affect. Her story is that her boy’s School had asked for testing because of odd behaviors and learning disabilities. Shannon did many, many interventions OT, Social summer camps, 12 years of private school for children with learning disabilities. Consulted many many types of doctors over 12 different type of specialties. One son had to have a defibrillator implanted because of fast heart rate tachicardia.
She called MDA and talked about support groups and she went to this group but no other people with DM attended the support groups. She looked for other mechanisms. She attends an informal women’s support group which helps a great deal.
She learned more from Dr. Peter Harpers book which was very valuable. She took the book to doctors offices and educated them. In 2001 at a meeting in the Netherlands and a book with a doctors in mind. Shannon wrote the chapter on the support groups in the United States. The book has not gotten into the hands of the intended audience. In researching her chapter she found only one active group in the USA in Los Angles. Ed and Alice Gunderson started the group. Ed was an optometrist and Alice was a successful business women. They do a website and raise money and have a successful.
Why no support groups?. The autosomal dominant nature and the cognitive decline. Shannon did a nice job presenting information from her perspective and educating the group.
Discussions
Discussion of web based support groups and children’s groups
Family and Patient Perspectives
Differences in UK versus the health delivery system in the UK
Margaret Bowler: 1400 families on the mailing list and send information to the families. We ask if they will give a 10 pound donations. About 1/3 send in money They will get money from bequests.
IMDO we discussed the success of the DM2 format with the listserve format. The difficulty in organization support groups and the failure of 5 or so that we have in the USA. The fact all our information is on the web and that this information is available.
Margaret mentioned Children and the Media. Her son was interviewed as interviewed. The conferences they have are very good and have excellent information. They do have young people come with DM. These young people have subjects for them to discuss and then they have activities. Last year at conference they talked about living independently.
Questions about measuring the effects of the cost of caregivers.
Point was made that assistive technology would help with many people with the disease. There are assitive technologies all across the united states ten canters that can help. The dept of education at NIDRR they do some funding of assistive technologies with all people with disabilties. They ahve funded some information about a cosmobot a device for people with autism.
Quality of life can be defined as the difference between expectations and reality. The support group may increase this gap and thus this may decrease the quality of life. Questions is that support groups may be more
Care giving: CDC has a great deal of interest in this issue. They are funding projects based on phone surveys that individual states use and they hope to gather information and they are hoping to get 600 or so surveys back and they will try and then phone back for a more in-depth information.
Ataxia field and support for children with ataxia and integrating support and internet support. The national Ataxia foundation has an annual meeting once a year. The meeting is for scientists, people with diseases and caregivers. The children are also invited and have group activities. This gives children a chance to get together with other people as well.
Assistive technologies, active small business grant program that has been extremely helpful in the development of assistive technologies. This is done by the SBA. This has really helped with speakers (could not identify speaker) rehab clinic.
Q: Improving fitness with exercise. Some of the slowly progressive dystrophies have various aspects such as: Hyperlipidemia, Hypertension, Coronary artery disease. there is information on exercise and fitness, they will get us the information. However with DMD the parents should not try resistive exercises to try and build muscle as this does not seem to work.
Physical Therapy: University of Rochester. The exercise is an unresolved issue. There is a real need and speak with one voice and guidelines. Without guidelines then the families have to make the decisions.
Other instruments for the information on caregiving instructions which caregiver reaction assessment and other are used in the cancer area but may give some guidance and allow for cross disease comparative studies. Cancer may give some guidance. There was a recent book that discussed caregiver outcomes.
Person from Canada clinical care pathway for Myotonic dystrophy that will assess and provide an action plan. Nurses will implement this. This will help to increase the knowledge of Myotonic Dystrophy. Practical things that will help give them a free office and that MDA Canada is nearby to the neurology clinic then then can go directly to the support group.
U of San Fran. Works with children. , There is a support group called family voices and they have 50 state chapters and each one has a family to family support center. It helps to find services and also advocates for families at the state and federal levels. They also help with the transition from child to adults which there are huge differences.
Health and Pyschosocial Burdens
Moderators
Susan Lannacone, MD Univ. of Texas SW Medical Center
John Day, MD, PhD. University of Minnesota
Multiple factors contribute to the degree of distress in a family
Affected individuals show increased behavior problems
Parents/Caregivers report increased levels of stress
Families demonstrate significant functional impact
Parenting Stress Index
127 mothers of boys with DMS
800 children or norms
28 mothers of children with cerebral palsy
1. Parental Distress (no group difference)
2. Parent-Child Dysfunctional interaction (DMD higher than norms)
3. Difficult Child DMD higher than norms and CP
Time of Diagnosis is a very difficult time for families. Loss of ambulation is another large increase in stress levels in family. Above data is aggregate and does not take these short term incidents into account
1. Parental Distress
Child Behavior <==== largest stress factor
Childs IQ
2. Parent Child dysfunctional interaction
Child behavior
3. Difficult Child
Child behavior
Wheelchair use
The stress factor seemed to be highly influenced by the child's behavior
Stress Factors to Measure:
Parent- Stress, coping, Pyschological adjustment
Family- family Functioning
Affected Individual- Psy. Adj., Quality of Life
Measures of Caregiver and Family Stress - Veronica Hinton PhD, Columbia University
Quality of Life and Social Issues in Myotonic Dystrophy Cynthia Gagon, MSc. Carrefour de sante de Jonquiere
What would my life be without this disease?
Influence QoL in DM1
Decrease objective and subjective health related QoL
Social standard vs subjective QoL
QoL Congruence between one's aspirations and accomplishments in various life domains
Quality of Life Index QLI
Weak to moderate correlations with ADL Ability
Influence QoL
Maximize capacity
Promote adaptation to the disease
Mobilze supports (social factors)
Social factors in DM1
Social welfare 43.6% below poverty line
Low socio-economic area 62%
low level of education 63% less than 9 years
High employment 77-88
Poor provision of social and home based services
Progressive social deterioitation of the family
Paucity of specific support groups
Other envirnomental influences
Access to healthcare resources
access to technical aids
Evaluation of the burden in DM1
A systemic approach including overal social picture and evaluation of the burden
several impairments and disabilities
activities of daily livbing and social roles
different phenotypes with different functional pictures
Objective and subjective and QoL including measure of adaptation
measurement of all social factors including:
Access to services employment eduation
social relationships support
Environmental factors
Burden experienced by relatives/caregiver
Measuring Quality of Life (QoL) in Adolescents with Disabilites and Chronic Conditions - Tari Topolski PhD University of Washington
Quality of life is subjective
PedsQL Pediatric quality of Life
18792 healthand ill children
Measures Parent and child report QoL
Standard is the last month
Problems are the way they do the questioning children understand problems
takes 5 minutes to complete
It is one page and easy to complete and easy to score
They have modules specific there is nothing in muscle disease now.
good consistency and reliablity of testing both for parents and children
knows very little about muscular dystrophies.
Gave definition of QoL
More than just health QoL, many other factors
Social and cultural, economic, political, Physical, geographic,
Too fast to write down....
Discussion:
Studies are sometimes self selected, those that are volunteered and some participants are paid so the results may be skewed. Big questions on representative samples.
Burden of Adult Muscle Diseases Micheal Rose MD Kings College London
Internal? Neromuscular QoL
Clinical Purpose
Capture the impact on muslce disease in all areas important to the NMD patient
Development was from scratch, not adpated from other materials
Indepth interviews 33 subjects in 3 categories
Taped and transcribed
Analysis extracting common themes and main areas identified
NMD affects many domains
Q: how do we know if this is representative of those with NMD? Did a postal questionnarie based on 254 responses.
Based all above and also used theoretical constructions to make final questionnaire. Did a pilot to check ease of use and then did a validation. Also did sensitivity studies.. "in the field" and In trials.
Format
Section 1
perceived severity of symptoms
difficulties caused by symptoms
importance of these difficulties
Sec2
Sec 3
Advances in Healthcare Outcomes Measurement Bryce Reeve, PhD National Cancer Institute/NIH
Has a system where they compare two questions mathematically. This is fairly complicated but is a good system to find out information. Computerized adapted testing allows for more accurate prediction of outcomes. There are some limitations to this methodology.
Patient Reported Outcomes Measure Deborah Alder, PhD NIAMS/NIH
Promise is the program she has been working on. Idea is that if we are going to do research with clinical interventions we should pay attention to see if these interventions work. Purpose is to collection information and do psychometric analysis to see if it works.
Promis domains that are measured
Physical Functions
Pain
Fatigue
Social Function
Emotional Distress
Sources of Epidemiological Data Aileen Kenneson, Phd
Epidemiology: the study of diseases in populations the frequency causes and means to prevent
CDCin Atlanta ahs archived the multiple casue mortatilty files Cause of dealth immediatl;y and underlying
Mortality data from 1983-1998 all us deaths 35 million ,MD related death 14,449
Respiratory problems are common. Respiratory problems Flu, Respiratory about 20% of deaths were associated with respiratory issues. Dealth rates are higher in the winter than the summer months. This is also true in general populations but more pronounced in MD.
There has been a slight increase in the average age of Death in the DMD population in the 1990's. They wondered why the DMD were living longer. The number of hospital admissions were increased also in the 1980's. There was much more mechanical ventilation and spinal fusions after 1987.
Data is review and screened by CDC. So some data is available but there are limtitations such as the individual type of Muscular dystrophies are not mentioned.
Muscular Dystrophy Surveillance tracking and research Network (MD STARnet) Paul Romitti PhD University of Iowa
CDC cooperative agreements in AZ, CO, IA , NY Paul in Iowa is the principal investigator
Goals:
Develop and implement active survellience of Ducheene and Becker MD.
They are gathering information that will help provide information to improve healthcare outcomes
Duchenne Muscular Dystrophy Survey Eric Henricson MPH Childrens National Medical Center Washington DC
3 aims Cross sectional assesment of the psychosocial impact of the disease in families of children with DMD
To investigate perceived needs of families and to evaluate the awareness of existing services and to
To evaluate the impact of neonatal screening programs (Puerto Rican and Pittsburgh)
Surveys
Main survey family community life
QoL
Coping mechanisms
Most studies are large and
Aim 1 Psychosocial functioning
For Child
For Family
For parent
Aim 2 Service Utilization and Needs
Complicated disorders multiple needs at different stages
DMD is NMD with greatest per capia cost for outpatient treatment
Parents will describe:
What they have used, benefits of these treatments and what they would like.
MDA Clinic and directors and Physicians
Aim 3 Neonatal screening
Available since 1975
Ethical concerns
Insurance issues
Wethodology
230 MDA clinics 8325 boys
National Registry for Myotonic Dystrophy and FSH Dystrophy Patients and Families - Richard Moxley III
NIH registry, all people have submitted paperwork and background. DM and FSHD are the two most common adult forms of MD. The disease is multisystemic.
Registry has 875 registry 432 DM, 357 FSHD, 86 unaffects. 10% of DM is type II
Confirmed genetic testing is present in 43% of population
59% assistive devices
PT 49% and 71% assitive devices
58% have had employment altered
Ongoing clinicals
Qol in persons with disabiltieis UC Davis
Pregnancy and delivery outcomes FSH and Hypersomnolence Univ of Rochester.
Concerns: Sample size and representative of the overall populations.
Health Related Quality of Life and Functional Status James Varni PhD Texas A&M University
Disease Specific QoL Instruments - Arthritis Deborah Lubeck PhD Amgen Dimensions of Quality of Life
A number of instruments exist in Rheumatoid Arthritis.
Results: Physical function is responsive to treatment effect.
There is a clear relationship between change in disability and general QoL domains.
Specific symptoms in disease may need to be emphasized (fatigue)
Increased disability is associated with increased cost.
Qol: Issues for Persons with Neuromuscular Diseases Ted Abresch MS UC Davis
Qol Survey
811 Subjects with NMD
128 DM, 97 SMA, 232 CMT 355 post polio
Short ehalth form 36
Mailed ot people, there is a bias. Strong educational bias.
25% emplyed
33% unable to work because of disability
SF-36 results
Everything depressed Role emotional and mental health were on par.
many other factors
People with NMD have Life satisfactions lovwer than that in controls on all efforts
NMD Controls
Housing 4.1 3.8
Family 4.1 4.1
Transportation 3.7 4.2Social Life 3.6 3.9
Employment 3.4 3.8
Health 3.1 3.0
Health 3.1 3.9
Sex 3.1 4.1
Scale 1= very dissatidficed 5 = Very satisfied
Eric Henderson
The National Institute of Health in the United States of America held a workshop on the Burden of Muscle Diseases on the above dates. The US congress mandated by law that an estimate of the social and economic impact of these neuromuscular diseases be measured. The following are my notes and information about this meeting. (Richard Weston January 26th 2005) Please note that speakers sometimes talked fast and I could not make notes but we will add the link to the official site when that is one. It is very evident that because of motivation/Apathy Issues in that people with DM are being underreported in the area.
Richard's Summary: It is important to measure the burden of muscle diseases so that it will be more evident of the impacts and greater resources can be devoted to management and treatment. The social burden is the difference between a person's expectations and reality. The economic burden will be studied tomorrow. For caregiving the major factors that affect parents is the Child's behavior and also ambulation (or needed cane or wheelchair). There is a major study ongoing regarding support and DM1 in Canada. This will have interesting and long-lasting results.
Introduction
Moderators
Richard Lymn, PhD/Niams/NIH
Richard Moxley III MD University of Rochester
WorkShop Goals - Richard Lymn
The combined incidence is about 2 per 5000 - this combines all the muscular dystrophies.
Identify the economic and psychosocial components of the burden (Meaning burden of muscle diseases)
Review available data and instruments for collecting data on components
Recommend strategies for developing and improving assessments method
Identify methods useful to assess the burden
Identify measurements that allows us to evaluate the effects of intervention and treatment on the burden
Defining Chronic Muscle Disease - Craig McDonald, UC Davis
Clear definitions available for DM1, FSH, DMD
strong Public and Patient Interest exists
Over time these diseases lead to progressive disability-Increasing needs and burden
Myotonic Dystrophy DM1
Autosomal Dominant (1/8000)
Chromosome 19
Distal weakness and wasting, Multisystem
Anticipation (Worse through generations)
Cognitive dysfunction
Endocrine action
Excessive Sleeping
Congenital Form DM1
Club Foot
Respiratory Problems
NICU
Mothers need to know about disease and impact on children
FacioScapuloHumerial Dystrophy FSHD
Autosomal Dominant
(1/20000) Incidence, indications there is more
Chromosome 4
Facial, Scapular, upper arm, and leg weakness
20% in wheelchair by age 40
Retinal telangiectasias
Muscular Dystrophies - Richard Moxley III
DM1
Cataracts
Respiratory
Heart
Anesthesia
Brain
Endocrine
Pregnancy
Pain
Went over complications and Treatments
Went over the Congenital Forms
FSHD
Went over symptoms and treatments
DMD
Went over symptoms and treatments
Assessing the Burden of an Illness James Schuttinga, Phd NIH
Economist. He is a data user. He deals with questions from congress. Mostly from people who want to spend more money on "THEIR" diseases. He is interested in how this can inform and shape research priorities, disease specific data and comparable data.
Data use- Track population trends, emerging threats, reductions in burden of disease. Support epidemiological investigations, priority setting, inform public
Data needed on disease + Economic Burden
Years lost to premature death
Impact on all dimension of functioning and well being
Sensitivity to differences in Health
Comparables
Timely/Current
Approaches to Burden of Illness in Canada Micheal Wolfson Phd Statistics Canada
National Statistics Office in Canada, Assistant Chief Statistician, Responsible for Health Statistics.
Many people and Competition organizations for dollars and projects
Covers all major Illnesses
Upsteam Causal factors
Downstream sequalae
Reflect main aspects of populations
Rank order and the impact of the disease may have different outcomes
MicroSimulation
Use artificial one person models, Heterogeneous individuals versus homogeneneous groups. This is an interesting concept
Challenge of Generality and Parsimony versus sensitivity and Specificity....
Discussions:
Screening of Mothers and that CMD should be screened in Pregnancy
Newborn Screening may be very helpful
CDC is working on a newborn screening in USA for muscle diseases this may lead to early interventions
Shannon Lord brought up that Doctors needed to be educated in diagnosis of DM1
Margaret Bowler has a successful project
In Quebec, Sending letters to the family to get more genetic counseling. There is a shift now towards the more mild form as more people report and get information and get tested. A strong outreach on Myotonic Dystrophy and genetic counseling's seems to be well received.
Education in Neurology clinics for new medical doctors is only a short time and the Neurology rotation may be a couple of weeks and maybe a few days in the MDA Clinic
Questions on methodology of the Canadian approach by Dr. Lipsomb Emory University
Newborn screenings cautions (complications) Alternative approaches are being looked at as well. The thought here was to see if screening could help with early intervention
The critical approach is MDA clinic model with interdisciplinary approach need to look at the entire spectrum .of problems. The Experience of seeing a critical mass of volume of patients is critical. Need to look at the prevention of abnormalities, for example Becker patients may have an earlier onset of cardiac myotopathy but this can be delayed with proper treatment. Phone number to leave messages for participants: 301-496-4062. No formal dinners planned but please get together and have dinner.
Personal and Family Factors
Moderators
Craig McDonald, MD UC Davis
Jerry R. Mendell, MD Ohio State University
Introduction- Craig McDonald
Challenges to Education and Careers Steven James Tingus, MS C. Phil Director National Institute on Disability and Rehabilition Research
Lots of slides and information. Resources are not being devoted to this disease because their impact has not been measured yet. Once we get measurements then more resources may be devoted to the dystrophies.
NIDRR: Mission statement is to get info out to help people perform better in society.
Employment:
Higher rates of education correlates with higher employment rates
Unemployment increases with the are and severity of the NMD
Need for assistive Technology increase with age both classroom and work
Higher rates of emotional distress correlate with lower rates of employment for persons with NMD
Consumer and Provider barriers may contribute to employment outcomes. Consumer's adequate experience with vocational rehabilitation
Biomedical and rehabilitation engineering may provide tools that can expand education and employment opportunities
NIDRR 202 245-7640
Email: Steven.Tingus@ed.gov
http://www.ed.gov/about/office/list/osers/nidrr/indelx.html
Parental Perspectives Pat Furlong Parent Project Muscular Dystrophy
One day genetic counseling experience
Genetic Testing Found out she was a carrier
Need to have follow-up counseling
Discussed all the care issues that come up with families
Costs, economic, loss of ambulation, Wheelchairs, Pharmacology
Lots of costs (individual costs intangible)
Discussed Family and gender differences
Breaks all family members and each must figure out coping mechanism.
Family issue can be overwhelming at times, Grief occurring and ongoing
Tightropewalker without a pole....
You have to make decisions with not a lot of information and background
Vulnerable to those who claim they can sure the disease.
Communities are not well educated on Genetic Diseases, they were the only ones in small town with NMD
Clinical Trials are a two edged sword....
Worst nightmare, as children grew up what happens if the parent dies... Is nursing homes appropriate.
Smooth muscle issues are a big issues as well...
Multi-Generational Aspects - William G. Micheal, CPA FSH Muscular Dystrophy Society
Son died this December at age 35. Served on the FSHD board as CPA Also Karen Johnson also died a week later a good friend and helper in the organization. William concurs with the earlier speaker, Pat Furlong.
Son born 1968, In 1969 wife realized that something was wrong with son. She saw a series of Pediatricians and the first one did not see any issues at all. He felt that the there was a psychological problems with the mother. Children's hospital in Boston and finally a diagnosis was made. Lots of test and muscle biopsy. He had a scar all his life from this. Diagnosed when he was 4 years old. Now their is a DNA test and probably a shorter period of time to diagnosis
The society helps patients with FSHD. They had a younger daughter and in 1997 she was going to get married and very fearful. She had genetic testing in Canada for the disease and now has 3 beautiful healthy children.
FSH Society
Prevalance 1/20,000
Autosomal Dominant
Skeletal Muscle Weakness
face and scapular stabilizer muscles
Does not shorten lifespan
Can have spontaneous mutations
FSH Society is based in Boston
Views on Disease Management of Muscular Dystrophy - Margaret Bowler, Myotonic Dystrophy Support Group UK
Go Margret! Great honor to be here. They ahve a triangle of care with the aim to improve the quality of Life, To give knowledge understanding and awareness. How:
Local Contacts
Newsletters
Alert Cards
Conference
Hotline Calling Line
Literature
Website
Contact to Specialists
International Links
Challenge 1: Education
Improving the quality of life by addressing the ignorance of: Patients, Families, Health Professionals (Patients do not want to tell relatives. One patient keep secret for 30 years).
They have informational leaflets. The support group has grown
Challenge 2: Awareness
Media:
Literature
Politics
Links to:
Genetic Centers, GIG (genetic Interest Groups), Dr. Harper
LTMA
MDC UK Muscular Dystrophy Campaign
Muscle Networks - Scotland, Wales
Myotonic Dystrophy Support Groups in USA - Shannon Lord, Atlanta GA
She has two sons with Myotonic dystrophy. Shannon is mildly affected. The disease has a multi-systemic affect. Her story is that her boy's School had asked for testing because of odd behaviors and learning disabilities. Shannon did many, many interventions OT, Social summer camps, 12 years of private school for children with learning disabilities. Consulted many many types of doctors over 12 different type of specialties. One son had to have a defibrillator implanted because of fast heart rate tachicardia.
She called MDA and talked about support groups and she went to this group but no other people with DM attended the support groups. She looked for other mechanisms. She attends an informal women's support group which helps a great deal.
She learned more from Dr. Peter Harpers book which was very valuable. She took the book to doctors offices and educated them. In 2001 at a meeting in the Netherlands and a book with a doctors in mind. Shannon wrote the chapter on the support groups in the United States. The book has not gotten into the hands of the intended audience. In researching her chapter she found only one active group in the USA in Los Angles. Ed and Alice Gunderson started the group. Ed was an optometrist and Alice was a successful business women. They do a website and raise money and have a successful.
Why no support groups?. The autosomal dominant nature and the cognitive decline. Shannon did a nice job presenting information from her perspective and educating the group.
Discussions
Discussion of web based support groups and children's groups
Family and Patient Perspectives
Differences in UK versus the health delivery system in the UK
Margaret Bowler: 1400 families on the mailing list and send information to the families. We ask if they will give a 10 pound donations. About 1/3 send in money They will get money from bequests.
IMDO we discussed the success of the DM2 format with the listserve format. The difficulty in organization support groups and the failure of 5 or so that we have in the USA. The fact all our information is on the web and that this information is available.
Margaret mentioned Children and the Media. Her son was interviewed as interviewed. The conferences they have are very good and have excellent information. They do have young people come with DM. These young people have subjects for them to discuss and then they have activities. Last year at conference they talked about living independently.
Questions about measuring the effects of the cost of caregivers.
Point was made that assistive technology would help with many people with the disease. There are assitive technologies all across the united states ten canters that can help. The dept of education at NIDRR they do some funding of assistive technologies with all people with disabilties. They ahve funded some information about a cosmobot a device for people with autism.
Quality of life can be defined as the difference between expectations and reality. The support group may increase this gap and thus this may decrease the quality of life. Questions is that support groups may be more
Care giving: CDC has a great deal of interest in this issue. They are funding projects based on phone surveys that individual states use and they hope to gather information and they are hoping to get 600 or so surveys back and they will try and then phone back for a more in-depth information.
Ataxia field and support for children with ataxia and integrating support and internet support. The national Ataxia foundation has an annual meeting once a year. The meeting is for scientists, people with diseases and caregivers. The children are also invited and have group activities. This gives children a chance to get together with other people as well.
Assistive technologies, active small business grant program that has been extremely helpful in the development of assistive technologies. This is done by the SBA. This has really helped with speakers (could not identify speaker) rehab clinic.
Q: Improving fitness with exercise. Some of the slowly progressive dystrophies have various aspects such as: Hyperlipidemia, Hypertension, Coronary artery disease. there is information on exercise and fitness, they will get us the information. However with DMD the parents should not try resistive exercises to try and build muscle as this does not seem to work.
Physical Therapy: University of Rochester. The exercise is an unresolved issue. There is a real need and speak with one voice and guidelines. Without guidelines then the families have to make the decisions.
Other instruments for the information on caregiving instructions which caregiver reaction assessment and other are used in the cancer area but may give some guidance and allow for cross disease comparative studies. Cancer may give some guidance. There was a recent book that discussed caregiver outcomes.
Person from Canada clinical care pathway for Myotonic dystrophy that will assess and provide an action plan. Nurses will implement this. This will help to increase the knowledge of Myotonic Dystrophy. Practical things that will help give them a free office and that MDA Canada is nearby to the neurology clinic then then can go directly to the support group.
U of San Fran. Works with children. , There is a support group called family voices and they have 50 state chapters and each one has a family to family support center. It helps to find services and also advocates for families at the state and federal levels. They also help with the transition from child to adults which there are huge differences.
Health and Pyschosocial Burdens
Moderators
Susan Lannacone, MD Univ. of Texas SW Medical Center
John Day, MD, PhD. University of Minnesota
Multiple factors contribute to the degree of distress in a family
Affected individuals show increased behavior problems
Parents/Caregivers report increased levels of stress
Families demonstrate significant functional impact
Parenting Stress Index
127 mothers of boys with DMS
800 children or norms
28 mothers of children with cerebral palsy
1. Parental Distress (no group difference)
2. Parent-Child Dysfunctional interaction (DMD higher than norms)
3. Difficult Child DMD higher than norms and CP
Time of Diagnosis is a very difficult time for families. Loss of ambulation is another large increase in stress levels in family. Above data is aggregate and does not take these short term incidents into account
1. Parental Distress
Child Behavior <==== largest stress factor
Childs IQ
2. Parent Child dysfunctional interaction
Child behavior
3. Difficult Child
Child behavior
Wheelchair use
The stress factor seemed to be highly influenced by the child's behavior
Stress Factors to Measure:
Parent- Stress, coping, Pyschological adjustment
Family- family Functioning
Affected Individual- Psy. Adj., Quality of Life
Measures of Caregiver and Family Stress - Veronica Hinton PhD, Columbia University
Quality of Life and Social Issues in Myotonic Dystrophy Cynthia Gagon, MSc. Carrefour de sante de Jonquiere
What would my life be without this disease?
Influence QoL in DM1
Decrease objective and subjective health related QoL
Social standard vs subjective QoL
QoL Congruence between one's aspirations and accomplishments in various life domains
Quality of Life Index QLI
Weak to moderate correlations with ADL Ability
Influence QoL
Maximize capacity
Promote adaptation to the disease
Mobilze supports (social factors)
Social factors in DM1
Social welfare 43.6% below poverty line
Low socio-economic area 62%
low level of education 63% less than 9 years
High employment 77-88
Poor provision of social and home based services
Progressive social deterioitation of the family
Paucity of specific support groups
Other envirnomental influences
Access to healthcare resources
access to technical aids
Evaluation of the burden in DM1
A systemic approach including overal social picture and evaluation of the burden
several impairments and disabilities
activities of daily livbing and social roles
different phenotypes with different functional pictures
Objective and subjective and QoL including measure of adaptation
measurement of all social factors including:
Access to services employment eduation
social relationships support
Environmental factors
Burden experienced by relatives/caregiver
Measuring Quality of Life (QoL) in Adolescents with Disabilites and Chronic Conditions - Tari Topolski PhD University of Washington
Quality of life is subjective
PedsQL Pediatric quality of Life
18792 healthand ill children
Measures Parent and child report QoL
Standard is the last month
Problems are the way they do the questioning children understand problems
takes 5 minutes to complete
It is one page and easy to complete and easy to score
They have modules specific there is nothing in muscle disease now.
good consistency and reliablity of testing both for parents and children
knows very little about muscular dystrophies.
Gave definition of QoL
More than just health QoL, many other factors
Social and cultural, economic, political, Physical, geographic,
Too fast to write down....
Discussion:
Studies are sometimes self selected, those that are volunteered and some participants are paid so the results may be skewed. Big questions on representative samples.
Burden of Adult Muscle Diseases Micheal Rose MD Kings College London
Internal? Neromuscular QoL
Clinical Purpose
Capture the impact on muslce disease in all areas important to the NMD patient
Development was from scratch, not adpated from other materials
Indepth interviews 33 subjects in 3 categories
Taped and transcribed
Analysis extracting common themes and main areas identified
NMD affects many domains
Q: how do we know if this is representative of those with NMD? Did a postal questionnarie based on 254 responses.
Based all above and also used theoretical constructions to make final questionnaire. Did a pilot to check ease of use and then did a validation. Also did sensitivity studies.. "in the field" and In trials.
Format
Section 1
perceived severity of symptoms
difficulties caused by symptoms
importance of these difficulties
Sec2
Sec 3
Advances in Healthcare Outcomes Measurement Bryce Reeve, PhD National Cancer Institute/NIH
Has a system where they compare two questions mathematically. This is fairly complicated but is a good system to find out information. Computerized adapted testing allows for more accurate prediction of outcomes. There are some limitations to this methodology.
Patient Reported Outcomes Measure Deborah Alder, PhD NIAMS/NIH
Promise is the program she has been working on. Idea is that if we are going to do research with clinical interventions we should pay attention to see if these interventions work. Purpose is to collection information and do psychometric analysis to see if it works.
Promis domains that are measured
Physical Functions
Pain
Fatigue
Social Function
Emotional Distress
Sources of Epidemiological Data Aileen Kenneson, Phd
Epidemiology: the study of diseases in populations the frequency causes and means to prevent
CDCin Atlanta ahs archived the multiple casue mortatilty files Cause of dealth immediatl;y and underlying
Mortality data from 1983-1998 all us deaths 35 million ,MD related death 14,449
Respiratory problems are common. Respiratory problems Flu, Respiratory about 20% of deaths were associated with respiratory issues. Dealth rates are higher in the winter than the summer months. This is also true in general populations but more pronounced in MD.
There has been a slight increase in the average age of Death in the DMD population in the 1990's. They wondered why the DMD were living longer. The number of hospital admissions were increased also in the 1980's. There was much more mechanical ventilation and spinal fusions after 1987.
Data is review and screened by CDC. So some data is available but there are limtitations such as the individual type of Muscular dystrophies are not mentioned.
Muscular Dystrophy Surveillance tracking and research Network (MD STARnet) Paul Romitti PhD University of Iowa
CDC cooperative agreements in AZ, CO, IA , NY Paul in Iowa is the principal investigator
Goals:
Develop and implement active survellience of Ducheene and Becker MD.
They are gathering information that will help provide information to improve healthcare outcomes
Duchenne Muscular Dystrophy Survey Eric Henricson MPH Childrens National Medical Center Washington DC
3 aims Cross sectional assesment of the psychosocial impact of the disease in families of children with DMD
To investigate perceived needs of families and to evaluate the awareness of existing services and to
To evaluate the impact of neonatal screening programs (Puerto Rican and Pittsburgh)
Surveys
Main survey family community life
QoL
Coping mechanisms
Most studies are large and
Aim 1 Psychosocial functioning
For Child
For Family
For parent
Aim 2 Service Utilization and Needs
Complicated disorders multiple needs at different stages
DMD is NMD with greatest per capia cost for outpatient treatment
Parents will describe:
What they have used, benefits of these treatments and what they would like.
MDA Clinic and directors and Physicians
Aim 3 Neonatal screening
Available since 1975
Ethical concerns
Insurance issues
Wethodology
230 MDA clinics 8325 boys
National Registry for Myotonic Dystrophy and FSH Dystrophy Patients and Families - Richard Moxley III
NIH registry, all people have submitted paperwork and background. DM and FSHD are the two most common adult forms of MD. The disease is multisystemic.
Registry has 875 registry 432 DM, 357 FSHD, 86 unaffects. 10% of DM is type II
Confirmed genetic testing is present in 43% of population
59% assistive devices
PT 49% and 71% assitive devices
58% have had employment altered
Ongoing clinicals
Qol in persons with disabiltieis UC Davis
Pregnancy and delivery outcomes FSH and Hypersomnolence Univ of Rochester.
Concerns: Sample size and representative of the overall populations.
Health Related Quality of Life and Functional Status James Varni PhD Texas A&M University
Disease Specific QoL Instruments - Arthritis Deborah Lubeck PhD Amgen Dimensions of Quality of Life
A number of instruments exist in Rheumatoid Arthritis.
Results: Physical function is responsive to treatment effect.
There is a clear relationship between change in disability and general QoL domains.
Specific symptoms in disease may need to be emphasized (fatigue)
Increased disability is associated with increased cost.
Qol: Issues for Persons with Neuromuscular Diseases Ted Abresch MS UC Davis
Qol Survey
811 Subjects with NMD
128 DM, 97 SMA, 232 CMT 355 post polio
Short ehalth form 36
Mailed ot people, there is a bias. Strong educational bias.
25% emplyed
33% unable to work because of disability
SF-36 results
Everything depressed Role emotional and mental health were on par.
many other factors
People with NMD have Life satisfactions lovwer than that in controls on all efforts
NMD Controls
Housing 4.1 3.8
Family 4.1 4.1
Transportation 3.7 4.2Social Life 3.6 3.9
Employment 3.4 3.8
Health 3.1 3.0
Health 3.1 3.9
Sex 3.1 4.1
Scale 1= very dissatidficed 5 = Very satisfied
Eric Henderson