......she suddenly asked who DS looks like. She went on to mention that genetic testing is sometimes performed. DS has a thin top lip, nothing like DH or myself, or our other children. I know I should have asked at the time, and googling is not helping. Has anybody heard of this? DS has been referred to a children's development centre for assessment of possible ASD.
Sorry I also see that Angelman's Syndrome can be very very serious. I hope I haven't caused you worry or upset. I am sure you are already worried that he has been referred. I speak as someone who has a child with ASD.
Turnip, I've read the info about Angelman's and, thankfully, it doesn't seem to correspond with my DS, thanks for looking though. I'm intrigued and will definitely ask what they might be testing for at the next appointment. My dad mentioned ages ago that DS has a completely different mouth from his siblings so now I'm curious.
Thanks for the name of the test, Autumnsmum. Something new for me to research. I've read so much about ASD, SPD and speech delays that I keep changing my mind about DS. Sometimes I watch him and think "He's just slow to speak" and at other times I know it's something more than that.
Have you ever heard of 22q11.2 deletion syndrome? One of the facial characteristics is a thin top lip and autistic traits can also feature with this syndrome (there are actually over 180 anomalies associated with 22q11!)It's presentation is very variable-no two people present the same symptoms thus making it often difficult for professionals to spot the signs. A microarray test will detect if there is a deletion. HTH
Thanks doobryferkin. That website was great and I've been reading about lots of others today. Interesting to know that children present differently, made me a bit more open minded about the possibility of it being genetic.
DD1 was tested after her ASD diagnosis via the microarray testing. In her case it revealed a partial chromosomal deletion. Her other issues all make a lot more sense now having read up more about her specific issue. She has "soft" markers for a genetic problem though the ASD doctors would not have routinely tested her - it was because I pushed for it in the end and they were very surprised when it showed up an issue. The power of the internet...!