Clinical features
Language and motor skills
Learning difficulties
Assessing cognitive skills is difficult because of the speech and hand motion abnormalities.
Severe language development problems
Affected children try to establish visual contact by intense staring. They “speak through” the eyes. Some girls have preservation of speech.
Loss of purposeful hand use and its replacement with repetitive hand stereotypes
It’s the hallmark of classic RTT. They include wringing, mouthing, patting, squeezing, rubbing and clapping.
Autistic features
Odd behavior and attention deficit.
Bruxism
Tooth grinding.It may lead to dental attrition.
Peculiar gait
Gait is almost always disrupted. With ataxia (failure of muscle control in the arms and legs that result in movement disorders) and apraxia (inability to execute learned purposeful movements, despite having the desire and the physical capacity to perform them).
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Tremors
It is the most common of all involuntary movements.
Dystonia and foot and hand deformities
Dystonia (movement disorder that causes involuntary contractions of the muscles) is seen first in the ankles and eventually progressing to many joints.
Seizures
Epilepsy is present in the most cases of RTT at some time in their lives. It usually starts after the age of 4 years and often decreases during the stage IV. Many girls are well-controlled or become seizure-free by medication.
It causes a sideways curve of the backbone, or spine. These curves are often S-shaped, with various degrees of severity.
Screaming spells
Some teens and adults experience periodic sudden violent screaming. This isn’t an epileptic phenomenon.
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