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