- A point mutation that causes a change in the amino acid sequence (building blocks of proteins) from arginine to cysteine at position 306 in the MeCP2 protein (p.R306C)
- A point mutation that causes a change in the amino acid sequence from arginine to cysteine at position 133 in the MeCP2 protein (p.R133C)
- A nonsense mutation that causes the MeCP2 protein to be truncated or shorter than normal (p.R294X)
In classical Rett syndrome, symptoms such as small head circumference (microcephaly) and motor problems are seen right from age three months with progressive worsening usually up to age 10. In the late childhood regression type, children start showing regression in language and motor skills much later in childhood (usually at age 36 months) and have a normal head circumference.
The symptoms of late childhood regression also are comparatively milder than classical Rett syndrome. Children, especially those with the p.R133C mutation, would likely have learned to sit, walk, and even use words before the diagnosis is confirmed.
Since speech is not affected much in late childhood regression type, extensive speech therapy might not be required. However, it may still be helpful to consult with a speech and language pathologist (SLP) to further improve the patient’s speaking and swallowing abilities.
Nutrition goals and recommended feeding strategies to tackle dietary inadequacy need to be met, as motor problems can impair feeding. If seizures are observed, a ketogenic diet and anti-epileptic drugs might be required.
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