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Rett syndrome
Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls
Prevalence
10 / 1,000,000
Age of Onset
ICD-10
F84.2
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental "plateau," and then rapid regression in language and motor skills
FACT
Additional signs and symptoms may include repetitive stereotypic hand movements, fits of screaming and inconsolable crying, autistic features, panic-like attacks, and bruxism
FACT
Rett syndrome is due to a genetic mutation in the MECP2 gene on the X chromosome
FACT
Males with pathogenic MECP2 mutations usually die within the first 2 years from severe encephalopathy
FACT
It almost always occurs as a new mutation, with less than one percent of cases being inherited from a person's parents
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Common signs & symptoms
Abnormal pattern of respiration
Absent speech
Developmental regression
Global developmental delay
High-pitched cry
Progressive microcephaly
Stereotypical hand wringing
Current treatments
Physical Therapy/Hydrotherapy
- Improves or maintains mobility and balance
- Reduces misshapen back and limbs
- Provides weight-bearing training for patients with scoliosis (an abnormal curvature of the spine)
Occupational Therapy
- Improves or maintains use of hands
- Reduces stereotypic hand movements such as wringing, washing (a movement that resembles washing the hands), clapping, rubbing, or tapping
- Teaches self-directed activities like dressing and feeding
Speech-Language Therapy
- Teaches nonverbal communication
- Improves social interaction
Feeding Assistance
- Supplements calcium and minerals to strengthen bones and slow scoliosis
- High-calorie, high-fat diet to increase height and weight
- Insertion of a feeding tube if patients accidentally swallow their food into their lungs (aspiration) 5
Physical Assistance
- Braces or surgery to correct scoliosis
- Splints to adjust hand movements
Medications
- Trofinetide (Daybue), an oral solution, is indicated for the treatment of Rett syndrome
- AEDs may also be used for seizure control (carbamazepine, valproic acid, topiramate and lamotrigine are most often prescribed)