Description of the condition
  • Major physical, developmental, and behavioral features
  • Affected body systems and common health concerns (What usually requires regular treatment and visits to doctors? Do people with this condition die early? If so, what causes their death?)
  • Changes in the condition as your child gets older (Do symptoms appear, disappear, or change over time?)
  • Likelihood of having specific symptoms at different ages
Differences among people who are affected
  • Variable expressivity
    • People with the same condition have different features, even within the same family. Different organs can be affected and some people may have mild symptoms while other people are severely affected. These differences can happen because of other genes or something in the environment.
  • Reduced penetrance
    • In some conditions, a person can carry the gene change that causes the condition but have NO symptoms.
Other conditions with similar symptoms (differential diagnosis)
  • Diagnostic criteria or characteristic symptoms of similar conditions
  • Tests and/or evaluations that can differentiate between different conditions
  • Clinical diagnosis: Diagnosis of a condition based on the presence of a number of specific findings (symptoms).
  • Molecular diagnosis: Diagnosis of a condition based on finding a change in a gene known to be associated with the condition.
  • Diagnosis of exclusion: Diagnosis of a condition that does not have a definitive test based on excluding other similar conditions.
Molecular Basis for the Condition
  • Name of gene and its function
  • Reason the gene change causes the specific symptoms
  • Percentage of people with the condition who have a change in the known gene
  • Other conditions that are caused by different changes in the same gene
Cause of Condition
  • Reasons the condition is believed to be caused by a gene change and not environmental factors
  • Accepted theories that explain the connection between features--why is this thought to be a syndrome rather than a random collection of medical problems?
Inheritance
  • Patterns of Inheritance (e.g., What is my chance of having another child with the condition? How is the condition passed on in the family? Are my relatives at risk for having this condition or having children with the condition?)
    • Inheritance patterns: http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns
Number of people affected
  • How are the number of affected people counted?
  • How were the affected people found? (e.g., were they counted from a group of people with medical problems or from a random group of people, some who had medical problems and some who did not?)
  • How easy is it to diagnose? Could people with the condition be missed or diagnosed with something else?
Distribution of affected people
  • Is one sex affected more than the other?
  • Is the condition more common in some populations or areas of the world? Should people with certain ethnic backgrounds have specific tests for certain conditions?
Current Focus of Research
  • Aspects of the condition researchers are studying (e.g., progression, diagnostic testing, treatment, etc.)
  • Names and locations of researchers studying the condition
  • Highlights of specific studies that have published results or that are ongoing
  • How and where to find out about studies that are recruiting patients
  • Ways to facilitate further research (advocacy)
    • http://wikiadvocacy.org/index.php/Research
Participation in Clinical Trials
  • o Definition and explanation of clinical trials
    • Finding: www.clinicaltrials.gov
    • Defining: http://clinicaltrials.gov/ct2/info/understand
  • Pros and cons of participating in a clinical trial
    • http://www.gene.com/gene/pipeline/trial-education/faqs.html
    • http://cancer.emory.edu/userdocs/Pros_and_Cons_of_Clinical_Trials-32354.pdf
  • Expectations for clinical trials (for the participant and the researcher)
  • Questions to ask about clinical trials
  • Adults with disabilities and consent to participate in trials
Patterns of inheritance
  • http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns
Encouraging scientists to do research
  • http://wikiadvocacy.org/index.php/Research
Clinical trials
  • Finding: www.clinicaltrials.gov
  • Defining: http://clinicaltrials.gov/ct2/info/understand
  • Decision to participate: http://www.gene.com/gene/pipeline/trial-education/faqs.html;http://cancer.emory.edu/userdocs/Pros_and_Cons_of_Clinical_Trials-32354.pdf
Identify key resources or experts
  • Educational and informational materials: Organizations that create materials should have information about clinical experts. Contributing authors are often experts on the conditions and may have additional resources and contacts.
  • Use of support groups: Members of these groups may be able to identify local providers and/or national experts and provide information about their experiences with different doctors.
  • Clinics and hospitals that specialize in the condition
Determining appropriate first health professional contact
  • Primary care
  • Acute health concerns: Can the primary care doctor deal with the concerns related to the condition or should an expert be involved?
  • Health professional who can coordinate care: What type of health professional can help make sure all potential health concerns are being considered?
Other considerations
  • Confirming or finding a diagnosis
  • Managing and treating a condition
  • Patient-provider communication
  • Assessing conflicting information and opinions: Consider the quality of the information (Who said it? When did they say it? How do they know?)
Clinical Diagnosis
  • Identify the important features of the condition. Provide information about the frequency of features within the affected population.
  • Testing needed to confirm or rule out the condition.
Genetic Testing
  • Different types of genetic testing that are available for the condition
    • National Coalition for Health Professional Education in Genetics (www.nchpeg.org)
    • Genetics Home Reference (http://ghr.nlm.nih.gov/)
  • Benefits and limitations of genetic testing
    • Genetics Home Reference
    • Mayo Clinic
    • MCH Neighborhood
    • CETT Materials
  • Practical information about testing (e.g., type of sample and procedure, cost, CPT codes, insurance coverage, turnaround time)
  • Approach to testing if multiple methods are available (e.g., biochemical and genetic testing) or changes in multiple genes have been associated with the condition.
  • Information about sensitivity (How often is the test positive, meaning a mutation is present, when the condition is present?) and specificity (How often is the test negative when the condition is not present?)
  • Interpretation of test results for diagnosis, management, and family members—positive, negative, and variant of unknown significance.
  • Determining the need for genetic counseling
•  Potential and frequency of condition-associated symptoms

Change in symptoms over time
  • How does the condition appear in older versus younger individuals?
  • What problems or changes happen over time that patients, families, and doctors should look for?
•  Types and purpose of specific treatments

•  Effectiveness of different treatment options

Deciding among multiple treatment options
  • Role of parents/families as care coordinators and partners in decision-making
  • Role of second opinions
  • Lack of consensus statements for management
•  Translation of research findings into clinical treatment

•  Conditions related to the condition that may require medical care/treatment, such as anxiety,    depression, and OCD behaviors.

•  Effects on the condition by normal developments in the body (for example, a greater    production of hormones).

Transition from pediatric to adult care
  • ICI: Institute for Community Inclusion
Insurance coverage
  • What types of treatments and condition-associated necessities (wheelchairs, assistive devices, alternative treatments) are typically covered?
  • Process to determine what is covered
  • Availability of Medicaid and Social Security benefits
Other available resources
  • Local disability organizations, support groups, charity organizations, local organizations
Research protocol vs. clinical treatment
  • Cost
  • Effectiveness of treatment
  • Balancing potential risks and benefits
  • Expectations (e.g., just because it is research does not mean it is better or more likely to work)
Types of genetic testing
  • National Coalition for Health Professional Education in Genetics (www.nchpeg.org)
  • Genetics Home Reference (http://ghr.nlm.nih.gov/)
Genetic Testing
  • Collaboration, Education, and Test Translation (CETT) program guidelines for educational materials development (http://www.cettprogram.org/resources.aspx)
Benefits and limitations of genetic testing
  • Genetics Home Reference
  • Mayo Clinic
  • MCH Neighborhood
Interpretation of test results
  • GeneTests
  • CETT materials
Transition from pediatric to adult care
  • ICI: Institute for Community Inclusion
•  Developmental issues related to the condition

Type and frequency of motor, cognitive, and language development delays
  • Range of severity and variation among individuals
  • Telling the difference between normal variation in development and delays in development
  • Resources for evaluation and therapy (e.g., local and state sponsored programs)
  • Types of tests and what different tests evaluate
•  Available management and treatment for behavioral and developmental concerns (e.g. sensory integration and ADHD)

•  Choices of management approaches


•  Current, applicable research

Type and frequency of behavioral issues
  • Range of severity and variation among individuals
  • Timing of behavioral issues; changes over time
  • Telling the difference between normal variation in development and delays in development with regards to behavioral issues
Available management and treatment
  • Choices of management approaches
  • Current, applicable research
•  Specific deficits and strengths associated with the condition that might affect learning

•  Working with the education system

•  Available educational resources to help with learning

•  Transitional education needs

•  Insurance coverage for developmental therapies and behavioral treatment

Other resources available to cover management costs
  • Local resources (e.g. NY State Department of Health)
  • How parents should plan financially (National Endowment for Financial Education)
Local resources
  • NY State Department of Health
How parents should plan financially
  • National Endowment for Financial Education
•  Positive and negative impact

•  Family stories

Balancing needs of family members
  • Give attention and support to family as a whole, not just affected individual
Parent role as advocate and coordinator of care
  • Communicating with your doctor, therapists, teachers, case managers, etc.
  • How to Communicate Effectively with Your Doctor: Working Toward Informed and Shared Decision Making http://www.pinestreetfoundation.org/avenues/avenues5/advocate5.html
  • How to Evaluate a Clinical Study: Guidelines to Help Understand Published Research http://www.pinestreetfoundation.org/avenues/avenues4/byoa4.html
Meeting caregivers’ needs
  • National Family Caregivers Association http://www.thefamilycaregiver.org/
  • How to Define Your Needs: Getting Support from Family and Friends http://www.pinestreetfoundation.org/avenues/avenues8/advocate8.html
Emotional impact
  • Possibility of caregiver becoming isolated
  • Emotional as well as medical journey
  • Support group availability
  • Feelings of guilt and responsibility
Expectations during lifespan
  • Maintaining hope but being realistic
  • Natural history of the condition
  • Differences in the condition among affected individuals
Family planning
  • Chances of having another child with the same genetic condition
  • Discussion with siblings about the condition and care giving expectations
  • Siblings who are carriers of the condition but are not affected
Long-term care planning
  • Process and timing: when should we start thinking about planning and what is involved?
  • Financial considerations –private pay vs. state funded; waitlists; partial vs. comprehensive services
  • Living situation options
    • independent living
    • assisted living
    • residential homes
•  Ideas for communicating with relatives about condition

Testing options
  • Who should be tested
  • When they should be tested
  • How they can get tested
Feelings of guilt and responsibility
  • Chance aspects of genetics
•  Respecting relatives' decisions about testing

•  Costs associated with the condition—obvious and hidden (e.g., insurance coverage for    different services, transportation costs).

•  Local and national resources that can help with specific expenses

•  Use of support groups as source of ideas

Communicating with the doctor
  • How to Communicate Effectively with Your Doctor: Working Toward Informed and Shared Decision Making http://www.pinestreetfoundation.org/avenues/avenues5/advocate5.html
  • How to Evaluate a Clinical Study: Guidelines to Help Understand Published Research http://www.pinestreetfoundation.org/avenues/avenues4/byoa4.html
Meeting caregivers’ needs
  • National Family Caregivers Association http://www.thefamilycaregiver.org/
  • How to Define Your Needs: Getting Support from Family and Friends http://www.pinestreetfoundation.org/avenues/avenues8/advocate8.html