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