Handbook of Genetic Counseling/Dysmorphic Features - Hypotonia

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Dysmorphic Features - Hypotonia

Preparation[edit | edit source]

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

Introduction[edit | edit source]

Contracting[edit | edit source]

  • 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 family history[edit | edit source]

Review medical history[edit | edit source]

  • 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?

Physical exam[edit | edit source]

Explain what findings mean/what tests will be ordered[edit | edit source]

Describe what we think may be going on[edit | edit source]

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

Wrap up session[edit | edit source]

  • 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[edit | edit source]

The information in this outline was last updated in 2000.