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Rett

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					Rett Syndrome
It’s Not Just for Girl’s Anymore.
                        Craig Dobson, MD
                          CPT, MC, USA
                  NCC Pediatrics Residency Program
Clinical Characteristics
 Developmental regression
 Progressive microcephaly
 Stereotyped hand movements
 Seizures
Characteristics
 Disordered breathing
 Ataxia
 Scoliosis
 Time course progression
Stage I
 Age 6-18 months
 Minor delays
 Postural reflexes delayed
 ‘Bottom shuffling’ common
 Often normal
Stage II
 Age 1-2yr
 Regression
 Personality phenotype
   Difficult to control
   Screaming fits
   Occasional self injurious behavior
Stage II, cont.
 Hand movements
   Wringing
   Flapping
   Automatisms
 Disordered breathing
   Hyperventilation
   Apnea
   Air swallowing
Stage III
 Usually begins age 3-4
 Regaining and improving communication
 Improved behavior
 Stable to slowly declining motor function
 Seizures
   Generalized or partial
   Late stage II to early III
Stage III, cont.
 Sleep disturbance
   Night laughter Early stage III (83%)
   Night screaming fits later stage III
 Bruxism
 Scoliosis
Stage IV
 Adult life
 Progressive lower motor deterioration
 Progressive severe neurogenic scoliosis
 Preserved communication
 Improved control of seizures
 Improved behavioral phenotype
Epidemiology
 1:10,000-15,000 females
 Rare but present in males
 Unknown atypical prevalence
Genetics
 MECP2 Gene
 X-Chromosome inactivation
 Mosaicism
Prognosis/Life expectancy
 Classic Rett Syndrome
   7% survive beyond age 40
   Unexplained sudden death common
 Atypical Rett Syndrome
 Mosaics
Clinical Implications
 Genetic testing
   Females (incl atypical presentations)
   Males (mosaics)
 Genetic couselling
   Recognition of carrier state
   Prenatal testing
Clinical Implications, cont.
 New medication options
   Buspirone for breathing abnormalities
   Melatonin for sleep disturbances
   L-carnitine in preserving neurologic function.
 Targeting learning modalities
   Music
   Non-speech communication
Future
 Expanded genetic testing
 Recognition of more atypical presentations
 Mouse model testing of therapeutics
 Further understanding of gene’s regulatory
 role

				
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