I just came across this research abstract yesterday as I was working on my HCH - GH project.
It is a retrospective, small and quite bias study, in the sense that they didn't do MRIs for all their 13 patients, but used the MRIs from their archives (for 8 kids). Now, of course kids with HCH don't typically get MRIs done, unless they have seizures or accelerating head growth and the authors correctly point this out. Nevertheless their neuroimaging findings are pretty uniform.
If you have 4 USD you can buy read-only access on Deep-dive for 7 days. I think it's money well spent. I am also trying to see if I can get a pdf from the publishing journal through their parent access program, in which case I will be happy to e-mail the file to any parent who will ask me.
It reinforces the points about the kind of seizures that children with HCH have as well as the cognitive/learning disorders and speech issues that Dr Pauli has documented before.
I have also tried to contact the authors to get some clarifications on a few points. See if we get anywhere with that. In addition with the selection bias, I have 2 main questions: it doesn't define what is meant by mild intellectual disability, I will try and get an IQ range and it would be great to see a verbal versus non-verbal results. It would be good to get a range on the speech delay as well.
Secondly, it was done by neurologists; when listing the specialists children attended ENT was not mentioned, I would be quite interested in understanding that aspect as well.
I truly hope that if I get accepted to do my PhD, all of you will participate in my research project, so that we can get a study on the way with larger numbers and get some answers for future parents and our children's generation.
Hi. I wondered if you ever managed to get hold of a PDF of this article as I would be very interested to take a look. My 22 month old daughter has hypo and had neonatal seizures. Her MRIs were reported as normal at the time but when they went back and looked at them after diagnosing hypo they found hippocampal degenesis. There is so little info out their on the links of epilepsy and hypo, our geneticist in London said they are only aware of one other case.
ReplyDeleteHi Debs,
DeleteThanks for writing. No, I was never sent the article, but it's actually on my list to follow up with the journal today, just remembered it last night, funny you would ask about it today. In the mean time you can view it on deep dive for less than 4 USD. I bet your geneticist probably has access to it anyway. The link between neonatal seizures and HCH is quite established. The exact % is not known, but I think it is most likely somewhere between 35 - 50%, I personally know 7 families that I can think of immediately, so there is defo more than 1 case. I also know one teenager who similarly to your child has hippocampal dysgenesis, the common finding is temporal lobe dysgenesis, so as the hippocampus is in the temporal lobe, it all ties in together. Your daughter is almost exactly the same age as Fi, thanks for contacting me.