Rett syndrome


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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.