1. S H R A D D H A P A T E L
D R . M A R T I N E Z
P S Y C H I A T R Y
M A Y 2 0 , 2 0 1 3 - J U N E 2 8 , 2 0 1 3
Rett Syndrome

2. Introduction
 Neuro-developmental disorder of grey matter
 X-linked dominant
 Usually lethal in males, death usually in-utero resulting in still birth
 Single, spontaneous gene mutation on X chromosome
 Gene codes for a vital protein that controls brain development
 Born after normal pregnancy and delivery
 Sudden death at any period of life

3. Epidemiology
 1 in 23,000 female births
 2nd MCC of mental retardation in females
 99.5% of Rett Syndrome occurs only once in a family
 Life span average is more than 50 years
 Require care and assistance through lifetime

4. Signs and Symptoms
Slowed growth:
 Smaller than normal head size (usually 1st sign)
 Evident around 6 months of age
Loss of normal movement and coordination
 Most significant loss around 12-18 months of age
Loss of communication and thinking abilities
 Become uninterested in toys and surroundings easily
Abnormal hand movements
 As it progresses, develop own particular hand patterns (hand
squeezing, clapping, tapping)

6. Signs and Symptoms
Breathing problems
 Apnea (breath-holding), hyperventilation, forceful exhalation of air or
saliva – usually during wake hours, not sleep
Irritability
 Increasingly agitated and irritable as they get older
Abnormal behaviors
 Sudden, odd facial expressions and long bouts of laughter
Seizures
 Range from periodic muscle spasms to full-blown epilepsy
Scoliosis
Dysrhythmia (irregular heartbeat)

7. Stages
Stage 1:
 Begins b/w 6-18 months of age
 Subtle signs and symptoms
 Less eye contact and loss of interest in toys
 Sitting and crawling delays
Stage 2:
 Between ages 1 to 4 years old
 Gradual loss of ability to speak and purposeful hand movement
 Repetitive, purposeless hand movements
 Some hyperventilate/hold their breath, scream for no apparent
reasons

8. Stages
Stage 3:
 Plateau stage b/w 2 and 10 years of age (can last for years)
 Behavior improves, though problems with movement remain
 Less irritable, cry less
 Increased eye contact
Stage 4:
 Understanding, communication, and hand skills
 Reduced mobility, muscle weakness, scoliosis

9. Diagnosis
Criteria set by DSM
(Diagnostic & Statistical Manual of Mental Disorders)
 Apparently normal development for the first five months after
birth
 Normal head circumference at birth, slowed rate between 5
months – 4 years of age
 Severely reduced language skills
 Loss of hand skills and development of repetitive hand
movements between 5-30 months of age
 Loss of interaction with others (improves later)
 Unsteady walk or poorly controlled torso movements
 Severely impaired ability to communicate and move normally

10. Treatment/Management
 Symptomatic treatment, regular medical treatment
 Physical therapy
 Occupational and speech therapy
 Medications
 Can’t treat Rett Syndrome, but can help control signs and
symptoms (seizures, muscle stiffness)
 Nutritional support
 Important for normal growth and to improve mental/social
abilities
 High-calorie, well-balanced diet

12. References
Bernstein, Bettina. (2013). Rett Syndrome. Medscape.
http://emedicine.medscape.com/article/916377-
overview.
Sakala, Elmar. Kaplan Medical USMLE Step 2 CK
Psychiatry Lecture Notes. Kaplan, Inc., 2012. Print.