Monday, June 22, 2020

Rett syndrome notes

Hello friends!

Today we are going to learn about Rett syndrome

*Frequency : 1 in 15,000.
*90% of the cases are SPORADIC
*5-10% are X-Linked Dominant, so more common in females
(Remember males get only one X chromosome from mother whereas females get X chromosome each from mother and father).

*Mutation in gene : MeCP2.
*Virtually always seen in girls because males usually die in utero or shortly after birth.
*Important finding : Decreased pontine NE and Nigro-striatal Dopamine levels.

Clinical features
*At birth : Normal growth and normal head circumference.
*Normal attainment of milestones till 5-6 months of age, later there will be progressive regression of language (both receptive and expressive) and motor milestones.
*It causes Acquired Microcephaly.
*Hallmark : Repetitive hand writing movements with loss of purposeful movements.
*It can cause 5 As:
Apnea (intermittent)
Ataxia
Autistic behaviour
Arrhythmias
Acquired Microcephaly

*In addition to all of these, cyanosis, GTCS can also be seen.

*Staging :
Stage 1 : Onset stage (6-18 months)
Stage 2 : Rapid destructive (1-4 years) - 
Stage 3 : Plateau phase (2-10 years)
Stage 4 : Late motor phase (decreased motor movts) - Scoliosis can occur.

*Imaging : No pathognomonic finding. However, significant reduction on brain weight upto 60-80% is often seen.

*HPE : Decreased synapses, dendritic length and branching.

*Treatment : Supportive.

Hope it will help :)

Madhuri.









1 comment:

  1. The development of artificial intelligence (AI) has propelled more programming architects, information scientists, and different experts to investigate the plausibility of a vocation in machine learning. Notwithstanding, a few newcomers will in general spotlight a lot on hypothesis and insufficient on commonsense application. machine learning projects for final year In case you will succeed, you have to begin building machine learning projects in the near future.

    Projects assist you with improving your applied ML skills rapidly while allowing you to investigate an intriguing point. Furthermore, you can include projects into your portfolio, making it simpler to get a vocation, discover cool profession openings, and Final Year Project Centers in Chennai even arrange a more significant compensation.


    Data analytics is the study of dissecting crude data so as to make decisions about that data. Data analytics advances and procedures are generally utilized in business ventures to empower associations to settle on progressively Python Training in Chennai educated business choices. In the present worldwide commercial center, it isn't sufficient to assemble data and do the math; you should realize how to apply that data to genuine situations such that will affect conduct. In the program you will initially gain proficiency with the specialized skills, including R and Python dialects most usually utilized in data analytics programming and usage; Python Training in Chennai at that point center around the commonsense application, in view of genuine business issues in a scope of industry segments, for example, wellbeing, promoting and account.

    ReplyDelete

This is express yourself space. Where you type create something beautiful! <3
Wondering what do I write? Well...
Tell us something you know better. You are a brilliant mind. Yes, you are! ^__^
Ask about something you don't understand @_@?
Compliment... Say something nice! =D
Be a good critic and correct us if something went wrong :|
Go ahead. Comment all you like here! (: