what kind of a DX is unidentified developmental syndrome

[joanna hanna]

hello my daughter is almost 3yrs old her nuierologist says she has an unidentifired devlopmental syndrome but is not recomending any follow up he hasnt even seen her past med history and spent a whole 40min with her most of which involved her h&p. just some back groung she is a 2yr 10 girl she was 4"7 at birth bagged for 2min apgars 3 and 9.  she had heart surgery at 6 1\2mo, siezures started at 16mo with no abnorallity on 3eegs,mri or ct, she had a tethered cord released nov 29-00 with rpair of a dermal sinus which has affected the streighnt on her right side although it is mild., scoliosis,partial sacral agenesis, bilateral renal reflux,and si problems which has lead to problems with hyperactivity and lack of attention to task, she is said to have verbal auditory agnosia which is seen mainly in children with landen klefflner syndrome but again with no eeg abnorality we gan not get her the dx.  her last dev eval was done at 31mo 28days they scored her as a 31mo.

Receptive language 32%delay functioning at 24mo level
expressive 28mo level no sig delay
socially 39%delay 19month functioning
auditory cognition 24%delay 22mo level of funtion
visuall cognition she scored at 34mo.


do you have any ideas what else to look for she also has hypotonia, and hypermobilitly of all her joints, decreased synsation to pain.  should we find another nuero that is willing to help us identify the syndrome or atleast to help track her over all development he wishes to do neither.

thanks joanna hanna

[joanna hanna]

yes we have had a cayotye done on her she was about 26mo old and it came back normal do gene mutations show up on normal kariotyping.  we are also getting ready to do plasma amino acids and urine organivcs do you know what all they show a sfare as what type of metabolic disorders may be ruled out?  also we are looking nto the vaters connection due to the many defects. any other ideas?

thanks joanna hanna
atelynn 3yrs( tethered cord syndrome,spinal lipoma, 1\2 sacrome, 13ribs, hypotonia, seizures, dev dealys, si problems, bilateral renal reflux, and she had a heart defect called paten ductus arteriosis ligated at 65 1\2months.)

[A]

Just a thought...
Has anyone done a genetic screening/karyotype on your daughter?
She could be showing incomplete picture of a genetic disorder because of a mosaic or odd expression of the gene mutation?

[Kevin Kennedy, Ph.D.]

Dear Ms. Hanna,

Yes, it is perfectly sensible to seek further investigation into the various developmental symptoms your daughter displays. Now, sometimes it's not possible to discern a sigle explanatory condition for such developmental problems, and the more general diagnosis is all that can be achieved. But I'd definitely seek a second opinion.