Rett syndrome is a neurodevelopmental disorder that primarily affects girls. It is caused by mutations in the MECP2 gene located on the X chromosome. The disorder is characterized by normal early growth and development followed by a loss of acquired skills between 6-18 months of age. Symptoms vary across four stages but generally include loss of speech, hand skills, problems walking, seizures, and stereotypic hand movements. There is no cure for Rett syndrome but treatment focuses on managing symptoms through a multidisciplinary approach.

1. Dr.Mani SMK

2. THE DISCOVERY
Rett syndrome was
named after
Dr. Adreas Rett. It was
discovered when Dr.
Rett and colleges did a
research paper on their
findings, It didn't get
world wide recognition
until 1983.

3. - Rett syndrome is a neurodevelopment disorder
normally affecting Girls.
- most often be misdiagnosed as autism or cerebral
palsy.
- Rett syndrome causes problems with a child's
motor skills, affecting the use of their hands,
walking, eating, and breathing.
-Rett syndrome strikes all racial and ethnic groups,
and occurs worldwide in 1 of every 10,000 female
births.
WHAT IS RETT
SYNDROME ?

4. WHY DOES RETT SYNDROME MOSTLY
AFFECT GIRLS AND NOT BOYS ?
XX chromosome XY chromosome
MECP2 on X chromosome.
Have a ‘back-up” X.
Severity determined by
amount of expression.
MECP2 turned off or on in
cells.
No ‘back-up’ X chromosome.
Disease will be more destructive
and severe as a result.
See signs immediately after birth.
No clinical symptoms.
Often die shortly after.
Only a small amount live past
birth.

5. While the symptoms vary from child to child,
there are 4 general stages to Rett syndrome
SYMPTOMS

6. - Early onset
- usually begins
between 6 and 18
months.
- Infants show less
eye contact and
delay in motor
skills
STAGE
1

7. - Rapid destructive, begins at- Rapid destructive, begins at
ages 1 and 4ages 1 and 4, and, and
- Begin to lose the ability to- Begin to lose the ability to
speakspeak
- Chorea (spasmodic- Chorea (spasmodic
movements of hand or facialmovements of hand or facial
muscles)muscles)
- They may also breath- They may also breath
abnormallyabnormally
- Crying and Screaming- Crying and Screaming
without provocationwithout provocation
- Microcephaly (Abnormally- Microcephaly (Abnormally
small heads)small heads)
STAGE 2

8. STAGE 3
2-10 years old: ( Pseudo stationary stage )
- problems with mobility continue, (however, behavior
begins to improve) which include:
 less crying,
 become more alert,
 improved attention span
 non verbal communication skills
This is the plateau stage, and many who are afflicted
with Rett syndrome stage in this stage for the rest of
their lives. Girls and women in this stage can learn about new
people, things and situations

9. STAGE 4
- Late motor stage
-Lasts for years to decades will reduce mobility with curvature in spine and -
muscle weakness which can cause someone who was walking to not be - able
to walk
Ages varied:
 Scoliosis (an abnormal curvature of the spine)
 Hypotonia (weakness of the muscles)
 decreased mobility
 Bruxism ( Grinding of the Teeth)
 Ataxia (Involuntary movements)
 Epileptic Seizures
 Dystonia ( Repetitive movements)

10. DIAGNOSING RETT
SYNDROME
 Genetic testing
 Clinical diagnosis- looking for abnormal
signsand behaviors
 Looking for aperiod of normal growth and
then agradual regression of development
 muscular atrophy
 EEG abnormalities
 epileptic seizures
 scoliosis
 repetitivehand movements
 breathing abnormalities

11. - The main feature in which causes Rett
syndrome is Apraxia
- Apraxia is the inability to perform motor
functions
- It interferes with every movement in the
body
- Apraxia is the most fundamental and
severely handicapping aspect of Rett
syndrome.
- Women with Rett syndrome often show
autistic behavior.
MAIN CAUSE OF RETT
SYNDROME

12. RECESSIVE OR
DOMINANT?
Rett syndrome is neither
a recessive or dominant
trait
It is a genetic disorder
that occurs when there is
a mutation in the MECP2
gene on the X
chromosome

13. -Provides instructions for making protein
for normal brain development.
- Forms connections between nerve
cells, where cell to cell communication
occurs
- Rett syndrome disturbs the gene
process in creating building blocks for
the brain
WHAT IS A MECP2
GENE ?

14. IS THERE A CURE FOR RETT
SYNDROME?
- There is no cure for Rett
syndrome .
But there is treatment !!!
- Treatment for Rett syndrome is
symptomatic focusing on
management of the symptoms
and a supportive, requiring a
multidisciplinary.

15. CONCLUSION
In conclusion Rett syndrome is not a
deadly diease but it can shorten lifes
span

16. Rett syndrome is aassociated with all
except -
a. Developmental Delay
b. Macrocephaly
c. Stereotypies
d. Seizures
MCQ

17. ANSWER
B
Rett syndrome Microcephaly,occurs in
females, x linked
dominant,seizures,developmental
delay,autism