Hi Robin,
Thanks for the additional information. The little ones sound like big problems. The issue with prematurity is a real problem. Again, both need MRIs. It will be difficult (if not impossible) to do (let alone interpret) NCV/EMG. It will be necessary to wait months before its possible to get something reliable. I'll await the photos.
Regarding the Guyers - sorry about that, I didn't get a chance to get back to that message as yet. Yes, both should be referred to Stroud. The're different ages and different issues; both will benifit. I haven't been able to get the copies of the original karyotype. I'll try to get Jennifer enlisted in helping me track that down.
By the way, you have a rain check to drop by some other time when you're in Columbia. Later...
Jerry
-----Original Message-----
From: Communication for the Heartland Regional Genetics Group on behalf of Troxell, Robin M.
Sent: Wed 4/4/2007 1:49 PM
To: [log in to unmask]
Subject: Re: testing algorithm?
Neuro saw at least one and recommended the myotonic and SMA testing (tho did not have tongue fasiculations), I added PWS. Both with normal karyos - waiting a few more days post-transfusion to do any further testing. First w/severe feeding probs as you described, other on the vent. Both premies which doesn't help. The neonate asked about doing NCVs and EMGs and muscle bx - used to do them, was told by neuro that they didn't add anything, but she is questioning that. I said what the heck, you can do them if you want!
I'm going back up to take pics today. They'll both be in the NICU for a while and then we'll get them in to clinic.
Robin
ps =- did you think ashley guyer needed Stroud or just Devin? Mom confused...of course....
________________________________
From: Communication for the Heartland Regional Genetics Group on behalf of Gorski, Jerome L.
Sent: Wed 04-Apr-07 1:38 PM
To: [log in to unmask]
Subject: Re: testing algorithm?
Hey,
Both should probably have a brain MRI, karyotype, methylation PCR
(Prader-Willi). I'd only perform the DM1/2 testing for myotonic
dystrophy if there is evidence of facial weakness (severe feeding
difficulties, airway problems with pooled secretions, failure to change
facial expression, etc.) If the infants have DTR's (deep tendon
reflexes), forget the SMA testing. Both of the kids need to be seen by
a peds neurologist and/or geneticist. Additional studies would include
a NCV/EMG and muscle biopsy; but those depend on the initial evaluation
results. I hope that this helps. Later...
Jerry
-----Original Message-----
From: Communication for the Heartland Regional Genetics Group
[mailto:[log in to unmask]] On Behalf Of Troxell, Robin M.
Sent: Wednesday, April 04, 2007 1:28 PM
To: [log in to unmask]
Subject: Re: testing algorithm?
Have two newborns in the NICU with hypotonia, one with arthrogryposis.
I thought I had a list for at least hypotonia (like, first line do SMA,
myotonic, PWS, if normal do....etc.)
________________________________
From: Communication for the Heartland Regional Genetics Group on behalf
of Gorski, Jerome L.
Sent: Wed 04-Apr-07 1:16 PM
To: [log in to unmask]
Subject: Re: testing algorithm?
Hi Robin,
Your question happens to encompass most of pediatrics and all of
pediatric neurology. This is probably too complex a question to reduce
to an algorithm. What's the why behind the question?
Jerry
-----Original Message-----
From: Communication for the Heartland Regional Genetics Group
[mailto:[log in to unmask]] On Behalf Of Troxell, Robin M.
Sent: Wednesday, April 04, 2007 1:04 PM
To: [log in to unmask]
Subject: testing algorithm?
Hello -
I used to have a testing algorithm for both newborn hypotonia and
arthrogryposis workup (sort of a decision tree/order of testing chart).
I can't seem to find either - does anyone else have one or know what I
am talking about?
Thanks!
Robin
************************************
Robin M. Troxell, MS, CGC
Genetic Counselor
University of Missouri Department of Child Health Mercy St. John's
Hospital (Springfield, MO)
(p) 417-820-9839
(f) 417-820-3720
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