Independent Call Girls In Jaipur { 8445551418 } ✔ ANIKA MEHTA ✔ Get High Prof...
Rett syndrome
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)
5.
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
11.
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.