MRI results normal, chromo findings insignificant-what now?

[used2bthin]

DD five has had an MRI and it is normal. I am quite surprised as she has a speech and lang disorder and "associated learning difficulties" and microcephaly and epilepsy. She also has a seeminly unrelated genetic conditon that affects her medically but isnt the cause.

Sorry btw have two threads running but the other has the title about waiting for results thought this may get more replies quickly (feeling desperate and not getting much computer time as mid house move).

Chromosome results said deletion on chromo four which the geneticist thought could be a cause but then I was found to have the saem thing so she now says it is probably insignificant.

This is presumably fairly commono not find a cause? Its just that obviously SOMETHING is wrong with the way her brain works or she would be able to understand like other children do and wouldnt be so far behind. But whatever it is didn't show on the MRI.The OT we saw recently mentioned dyspraxia and sensory processing but thinks its all part of the same thing not seperate as a diagnosis.

used2bthin

Genetic research is still in its infancy with regard to the specific gene or genes which be responsible to any specific developmental disorder, in most instance od the various developmental problem areas the researchers talk about candidate genes which may be responsible for any particular deficit.
A general MRI can only provide general information as say looking at the brain with a magnifying glass, as to anFMTI that focuses on a smaller area of the brain like a microscope to see how that specif area of the brain reacts or does not react to a specific type of stimuli, which could be the source of a developmental disability. This still all part of on going research, which your DD is now a part of, in the process building the bigger picture of how the brain works and may how some areas not work.

Thanks for the reply and hi dolfrog. What is an FMTI? The geneticist has asked to put dd on the database in case something comes up later due to research or it helps them later on.

Oh also they are now testing for metabolic conditions that could be a cause but they said nothing has sprung to mind.

So things like SLI and autism are they developmental disorders? I am guessing so.

Cerebral palsy would have been seen if she had it though wouldn't it? I was convinced she had something that would show up, am not sure whether to be releived or more worried!

Also, her epilepsy showed on the eeg and people keep saying does she not have epilepsy then if the MRI was normal but the epilepsy is movement in the brain isn't it so wouldnt show up only if there was a structural cause is that right?

I'm part of a forum for HIE kids, caused when babies are deprived of oxygen at birth or older children suffer cardiac arrest or suffocation.

One thing I know for sure is that an MRI can only give an indicator, it is not a catch all. There are children like mine whose MRI was dire but yet manage and there are other children on the forum whose MRI showed no damage and yet they are affected by CP, epilepsy or other delays.

I only mention it because I have seen the 'other' side of MRI's, our paed tells us to look at the child not at the image. Our DD also has severe microcephaly and it was almost certainly caused by the brain injury at birth, therefore secondary micro, have your neuros said anything further about the micro?

No he just said oh and she doesnt have microcephaly does she? At the last appointemnt. His reg said yes she does actually 0.4th centile and nothing else was mentioned but I will make sure I bring it up later.

I have always been paranoid about her birth and also about one of the operations she had aged around a year-she started to talk before that then stopped. I really expected it to show something like that as she seems to have such a mix of issues. She also has bad digestion issues though and psorisasis so I think its hard to know whats what.

I just assemed cerebral palsy or any oxygen deprivation cause would show up so interesting to hear it doesnt always.

used2bthin

Typing error, well I am dyslexic lol.

FMTI should be fMRI

Ah thanks! So is that a more detailed MRI then? Wonder if they will offer that next-I may say no if they do I suppose as it would be another general.

sorry zzzz x posted with you! That sounds a bit like us now-any of the remaining genetics tests would be pretty awful.

She has had SALT since two and an ICAN assessment which found that she is guessing for anything languae related but has good cognitive function with pictures. We also ave family history of epilepsy and so they said the eeg was not a diagnostic tool in itself but she has appeared to have a few partial seizures so considering meds now.

used2bthin

this is where things get complicated. The various issues or conditions are not like for like comparisons, so the method of assessment and diagnosis may be looking at completely different issues.
Autism is assessed by observations of behavior or behavior traits, and the researchers are still trying to identify the multiple specific underlying disabilities which are the causes of these behaviors.
Specific Langauge Impairment (SLI) SLI refers to an impairment in the acquisition of oral language. And there is a current debated as to how much of this can be attributed to APD, and / or other cognitive and motor issues.

I hope this helps

yes it does dolfrog. I am told dd is more likely to have sli than autism although she does have some behaviour which is autism like. And APD is almost certainly part of her issues. But yes the othe rmotor issues and cognitive stuff and epilepsy etc make me wonder if there is not one thing causing it all. Maybe just a hope though in that it would be amazing to have a cure or even just know the outcome.

My dd also has quite bad digestive issues, again we've discovered quite a few of the hie babies do due to the digestive system having been compromised by lack of oxygen. You have my sympathies, its hard to deal,with,and watch them in pain.

I also hope you get some answers soon

Thanks slowburner, just saw you on another thread about HIE, hope you get some answers soon too. I think with my dd a lot of the issues relate to her meds for her genetic condition but some things are really odd like the speech regression. It is very hard to deal with the not knowing isn't it.

zzzz actually an epilepsy related question if you don't mind- any idea whether a seizure can last 30seconds or so? Been sharing a bed while staying with family with dd and she jerks about a lot. Earlier she was really jerking about for 30 secs or so. But I thought she only had partial seizures so havent seen a full one before. It may have just been normal sleep stuff but given she isn't yet medicated it could have been more-just seemed a bit too quick to finish.

Thanks zzzz, that is really good info. She is a twitchy sleeper as is her dad but last night and occasionally other times her legs jerked as well as arms and she seemed to be shaking or something. I usually have a camera in the room but have missed every episode she has ever had through not getting it on quick enough!

The partial one she had fairly recently was just one arm twtching and eyes open and she lost bladder control. And the other was a drop attack from what I have read. Because hers are so subtle its made me reluctant to even believe in them at times but I know that means they are much less distressing to watch.