DS had his appt and they think it's Angelman's. Maybe rett's. maybe a metabolic disorder. If none of those then they would say Microcephaly with autistic like features, but not autism. The worse part is waiting for results.
Anyone else have a similar experience with genetics?
yes, primary microcephaly, no cause known yet. He is actually 4 standard deviations below the mean, "obvious microcephaly".
Our neurologist and dev. ped referred us to genetics because they suspected autism and thought it would be interesting to see if they could find a link between microcephaly and autism. I guess they started searching for more answers when the speech delay showed up.
Your son must be a handsome boy! Thanks for chatting, just what I needed.
When my son was two, we found out that he might have hearing loss (turns out he does). This was before we had any hint that he might have autism (back in 1993, when he was 2, autism was definitely NOT top of anyone's mind). Anyway, I'm not certain why we were referred to the neurologist but, of course, we went. She immediately ordered genetic testing. There are some forms of hearing loss that are part of syndromes. And even back then, if a child presented with a significant speech delay, things like Fragile X were ruled out thru genetic testing. Around here (LI), getting that sort of testing was routine, even back 15 years ago, when a child presented with any sort of developmental delay. My son definitely had no dysmorphic features and was actually scouted and signed by a child model agent when he was a baby. Still, genetic testing was recommended and done. There was no requirement that dysmorphic features be present. At least not with our neurologist.
BTW, how did they diagnose your child's microcephaly? Was it just simply because of the smaller head?
Microcephaly makes a child's head look smaller than average (at least all the kids with microcephaly I've ever seen), so this may not technically be "dismorphic," since it's not the face (I don't know whether or not dysmorphia has to be the face), but it is a physical feature that is noticably not typical. Most doctors will use FLK on the file only when they don't yet know if there is dysmorphia or if the child looks a little odd just because he looks a little odd. It's what they use to remind themselve to continue to follow the child's early development to SEE if a genetic test might be in order after the next visit. Obviously, you're one step ahead and have already scheduled a look-see at the genetics. Let us know how it goes.
interestingly, I had asked why we weren't being referred to genetics a year ago and they said..."because he doesn't have any dysmorphic features". His microcephaly was diagnosed in utero.he's been in EI for a year.
According to my specialist
1) ds's microcephaly, feeding issues and developmental delays qualify for Angelman's...no dysmorpic features necessary. Doing tests.
2) boys can have Rett's most only live 3 months, some live a little longer.
Thanks for the input!
Doctors will sometimes make a note on their records -- FLK. It stands for "funny looking kid." It means the doc sees some dysmorphic features which signals to him that a genetic test is in order. There are LOTS of disorders that are genetic but rare. They don't actually have a name because only a couple of kids are known to have a problem with that particular gene. However, these genetic disorders are generally found to cause dysmorphic features, which signals a need for genetic testing. Also, they of cause some degree of mental retardation. Autism can exist with any genetic disorder as well. Fragile X, for example, is a disorder that causes FLK and almost always causes autistic-like symptoms. Most kids with Fragile X are considered autistic as well. Since all "autism" is is a collection of symptoms, having "autistic like symptoms" means a child HAS autism as long as he has enough of the symptoms to rise to a diagnosable level. Some of these disorders also cause physical issues (heart problems, sometimes deafness, growth problems, etc.) Some do not. It's best to let the docs do the testing and then let you know, if a genetic issue is found, whether or not they know anything about this particular disorder or whether it's pretty unique to your child. In the meantime, I hope you've contacted EI so that your little guy can get early intervention, which he is entitled to no matter what is causing his delays...it's not necessary to have a medical dx.
hi Angelmans is very easy to distinguish
the faicial features are very prominant it is also called happy puppet syndrome
Rhetts only happens in girls and that aslo has very definate features such has grimmaces and wringing of the hands
Microcephaly is a medical condition in which the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing
metabolic disorder there are many which have they referred to
i have some info on these on my group if you need it just ask and ill copy it to hear
shell