• 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
• 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
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