Rett Syndrome (Psychiatry) - USMLE Step 1

[@gretchensteele3125]

Rett Syndrome doesn’t ONLY affect girls. I am a pediatric nurse and one of my patients is a male 2 years old with Rett Syndrome.

[@kokocipher685]

I read it somewhere that male with Rett would usually die in uteral

[@Nora.1259]

it doesnt only effect girls. it mainly effects girls, because it is mostly fatal in males

[@abhishekvsmalyala]

Regression of developmental Milestones ( think reversal ) happens around the age of 18 months. High Yield point: If you come across regression of milestones in USMLE step 1 - it will be either Rett Syndrome where regression occurs around 18 months - Or it'll be Tay Sach's disease where regression of milestones occurs around the age of 6 months.

[@bloodcryii]

Thank you

[@kirstencourtney8792]

Males can have Retts and it not be fatal if they have more than one X but that is very rare. There are LOTS of girls with autism, but it is more common in males. The notion that girls can only be XX and boys XY is wrong. There are many variants on this including XXX, XXY, XXXY, XXYY, XXYY, etc, etc., etc.

[@nakiawtkns1]

Hmmmmm.... this is interesting. Thanks for your input.

[@bloodcryii]

Thank you for sharing these interesting possibilities, however I think that for the effects of this video and the focus on High Yield it is correct to stick to HY and HYAF and not get our panties tied over ultra rare possibilities

[@kferd1355]

Kirsten Courtney, thank you for offering accurate and updated information! Males can also have Klinefelter's syndrome (triple chromosome), Rett encephalopathy (atypical) and mosaic Rett syndrome (classic Rett). There are numerous journal articles on the array of phenotypes found in males with Rett syndrome today and they continue to revise previous misconceptions. It's a fascinating area of study right now. I really hope that you are a physician because the medical world need's more minds like yours.

[@cps9817]

really love your explanation. very clear and concise, thanks!

[@BlueCheeseNoFleas]

RETTS IS X-LINKED DOMINANT

[@saitama9350]

doesn't Rett syndrome have X-linked dominant inheritance?

[@kferd1355]

It is rarely inherited.

[@architgupta8955]

If it's x linked then how is it non heritable? Are they not fertile?

[@galeradousmlebrasil3821]

great video!

[@gretchensteele3125]

Also, my grand DAUGHTER is autistic.

[@tameneayesheshim5375]

Good one

[@davkada1933]

need more

[@kokocipher685]

on Qs, if you suspect Autism or see Autistic descriptions, but it's a girl... check to see if there is Rett. in the answer choices !!!

[@FeathersMcGraw667]

I had to LOL @ HYAF!! What does high yield refer to, in this instance? My 5yo daughter has Rett syndrome, which is how I ended up on this video.

[@FeathersMcGraw667]

Ahh..I got it. My daughter's mutation, btw, is a missense mutation Pro152Arg. She was dx. at 17 months, after she started regressing around 9 months. It was a hard year.

[@tristandorn3764]

He is referring to high yield for medical school testing. This is a topic that is frequently tested on Step exams due to it's serious or unique nature.

[@dingdong436.]

Thanx!..👌

[@nilukademel3458]

Thank

[@millionsofmischiefs]

It doesn’t only affect girls, boys have it too.

[@osamaalkaabneh4163]

Males die in utero

[@lilymoonwillow3511]

No it doesn’t boys get it too

[@palamaallen3224]

Wonderful, only one thing, please mind your language...be a pattern to the upcoming doctors. Thank you.