Successfully reported this slideshow.
We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. You can change your ad preferences anytime.

Rett syndrome


Published on

Published in: Health & Medicine
  • Be the first to comment

Rett syndrome

  1. 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. 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. 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. 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. 5. 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)
  6. 6. 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
  7. 7. 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
  8. 8. 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
  9. 9. 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
  10. 10. References Bernstein, Bettina. (2013). Rett Syndrome. Medscape. overview. Sakala, Elmar. Kaplan Medical USMLE Step 2 CK Psychiatry Lecture Notes. Kaplan, Inc., 2012. Print.