The presentation deals with rett syndrome, a neorological disorder of child hood. It gives an idea on the symptoms shown, the diagnostic procedures, and the treatment given

1. PRESENTATION
ON
‘RETTS’ SYNDROME
Jins Joseph
dbasc

2. WHAT IS RETT SYNDROME?
• Rett syndrome is a complex neurological
disorder that is usually diagnosed in the early
childhood and which mostly affects females.
Rett syndrome is caused by a genetic mutation
which is usually brought to the child in either
the sperm or the egg and is therefore present
at the time of conception.

3. WHAT IS RETT SYNDROME?
• The name of the gene in which alterations
(mutations) occur is MECP2 (methyl CpG
binding protein 2). It is found on the long arm of
the X chromosome. When written MECP2 this
stands for the gene itself. When written as
MeCP2 it is referring to the protein made by the
gene.

4. SYMPTOMS
• SLOWED GROWTH (brain, head)
• PROBLEMS WITH HAND MOVEMENTS
• NO LANGUAGE SKILLS (1to 4, stays away)
• PROBLEMS WITH MUSCLES AND COORDINATION (
walking difficulties)
• TEOUBLE WITH BREATHING
• OTHER PROBLEMS (seizures, inconsolable crying,
screaming and general irritability)

5. HOW DO WE DIAGNOSE RETT
SYNDROME?
• Depending on how early the problem arises, the
child may require many investigations because
there are many other disorders, which may cause
the failure to develop or loss the skills. Rett
syndrome is diagnosed by looking for signs and
behaviors leading to a clinical diagnosis and is then
confirmed in most cases by carrying out a genetic
test.

6. HOW DO WE DIAGNOSE RETT
SYNDROME?
• Rett syndrome is a rare neurological disorder.
People with Rett syndrome may require various
diagnostic, screening tests, assessments,
referrals and multi-disciplinary interventions at
different stages of their lives.

7. MAIN CRITERIA TO ASSESS…
• Partial or complete loss of acquired purposeful
hand skills. Partial or complete loss of acquired
spoken language. Gait abnormalities or impaired
(dyspraxic) or absence of ability.
• Stereotypic hand movements such as hand
wringing/squeezing, clapping/tapping, mouthing and
washing/rubbing automatisms.

8. • EXCLUSION CRITERIA
• Brain injury secondary to trauma (pre- or postnatal) neurometabolic
disease or severe infection that causes neurological problems.
• Grossly abnormal psychomotor development in first 6 months of life.
• SUPPORTIVE CRITERIA
• Breathing disturbances when awake
• Impaired sleep pattern
• Abnormal muscle tone
• Peripheral vasomotor disturbances
• Growth retardation
• Small, cold hands and feet
• Inappropriate laughing/screaming spells
• Diminished response to pain
• Intense eye communication – “eye pointing”

9. • The diagnosis should be based on the clinical
presentation. This diagnosis is conducted when the
child is shown regression in the development. The
condition may also be suspected earlier or before
regression has occurred - if a child shows
developmental stagnation and some of the behavioral
features, such as hand stereotypes, passivity and
social withdrawal is been exhibited.

10. TREATMENT
• MEDICAL CARE AND MEDICATION
• PHYSICAL THERAPY
• SPEECH THERAPY
• GOOD NUTRITION
• BEHAVIOURAL THERAPY
• SUPPORTIVE SERVICES

11. In short…
• complex neurological disorder
• early childhood ( girls, one in 10000)
• mostly affects females.
• caused by a genetic mutation
• either the sperm or the egg
• conception.

12. In short…
– loss of acquired hand skills
– purposive hand movements
– loss of Speech
– Deceleration in the growth of head
– Hand wringing Stereotypes
– lack of development of language
– wetting of the hands with saliva
– failure to gain bowel and bladder control

13. REFERENCE
• https://rarediseases.org/rare-diseases/rett-
syndrome/

14. THANK YOU