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.