Handbook of Genetic Counseling/Dysmorphic Features - Hypotonia

Dysmorphic Features - Hypotonia

Preparation

• Call Cytolab and see if FISH for Prader-Wili was ever ordered for client.

Contracting

• What are your concerns? I know that when we talked you mentioned the difficulty in feeding that he experienced before. Is there anything else?
• I've read your chart and looked over the information you told me over the phone, but pretend I don't know anything and tell me why you are here today.
• Review family history
• Review medical history
• Physical exam
• Answer any questions/ order any tests

Review medical history

• Mom, how long were you in the hospital following birth?
• Was the client "floppy" at birth?
• Can you describe the floppiness and when it began to improve
• What doctors does the client see?
  • Neurology…how often and last visit?
  • Pediatrician
• Is the client on any medications?
• Has the client ever had PT, ST, OT?
• Has the client ever been involved in an Early Intervention program?

Describe what we think may be going on

• Any genetic conditions (prader-wili)
• multifactorial inheritance
• sporadic events

Wrap up session

• Answer any questions mom might have
• Set up method of returning results to mom
• Set up follow-up appointment?
• Get referrals per instructions from Dr.

Notes

The information in this outline was last updated in 2000.