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Lisa, MSN, FNP-BC, CCRN
Lisa, MSN, FNP-BC, CCRN, Nurse Practitioner
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What role does speech-language pathology play in the treatment

Resolved Question:

What role does speech-language pathology play in the treatment of Sanfilippe syndrome?
Submitted: 4 years ago.
Category: Health
Expert:  Lisa, MSN, FNP-BC, CCRN replied 4 years ago.

Hello;

 

Thank you for writing in today. Are you a speech therapist?

 

Lisa

Customer: replied 4 years ago.
Yes, Lisa. I have 12 years of experience. For the past 5 years, I have had a private practice, and see children in their home environments. I work mostly with children with more severe special needs, including feeding and swallowing problems and a variety of syndromes. I have not worked with a child with Sanfilippe syndrome. Today, I received a referral from a case manager from BCBS for a child with this syndrome. She said that this little boy, age six, has behavioral problems, motor concerns, and that he uses short phrases to communicate. She also said that he overstuffs his mouth with food at mealtimes. I googled the syndrome, and I understand that it is degenerative. How can I best help this child, if I take him on my caseload?
Expert:  Lisa, MSN, FNP-BC, CCRN replied 4 years ago.

Since this is an error in metabolism, he may have severe cognitive, physical, and developmental issues. The severity of the associated sequelae really depend on his disease progression. At this point, without knowing the child, it would be very difficult to recommend any specific approach to treatment. However, to prepare, I would recommend getting some records from the primary provider. His medical records will give you a more clear idea about his issues, especially if he has severe cognitive impairment. Also, it will be important to know the onset of the disease and how quickly complications have developed. Once you meet with the child and the family, you may want to focus on what areas of his development they are finding the most challenging. It is quite possible that the child may present with overwhelming issues. Focusing on small goals, one at a time may be the best approach. Also, I would recommend discussing the family's perception of his disease progression. If they are realistic about the disease and prognosis, it may make goal setting more realistic. He clearly has a communication delay. Also, he may have some impulse control issues. In addition, if he's not appropriate for therapy, then he's not appropriate for therapy. Sometimes that does happen. Obviously, I'm an NP, not a SLP, however, I work closely with ST/SLP and have worked with several special needs children. I wish I could be more specific. However, again, it all really depends on the child. This child may have different needs than other children with the same syndrome. I realize that this answer may not be as helpful or specific as you would like, so, if you would like a more specific answer, I can opt out of the question. Just let me know. I will completely understand.

Also, if you have follow up questions or concerns, please let me know.

 

Lisa

Lisa, MSN, FNP-BC, CCRN, Nurse Practitioner
Category: Health
Satisfied Customers: 890
Experience: Board Certified Family Nurse Practitioner
Lisa, MSN, FNP-BC, CCRN and 7 other Health Specialists are ready to help you
Customer: replied 4 years ago.

Thank you, XXXXX XXXXX appreciate your honesty. You are right, until I meet and get to know this particular child, it will be hard to know how to procede. I plan to keep in mind your suggestions to 1. understand the parents' perceptions 2. small goals, one at a time 3. work on areas that are presenting greatest challenges 4. obtain medical records with information on onset, etc. These suggestions are helpful to me. Have a peaceful night.

Patty

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Lisa, MSN, FNP-BC, CCRN
Lisa, MSN, FNP-BC, CCRN
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Board Certified Family Nurse Practitioner