A review of the respiratory disorder in the Rett syndrome

Area of Science:

• Neuroscience
• Developmental Biology
• Genetics

Background:

• Rett syndrome presents with complex respiratory disorders and neurological symptoms.
• Understanding the underlying mechanisms is crucial for managing the condition.

Purpose of the Study:

• To review the respiratory disorder characteristics in Rett syndrome.
• To propose a developmental scheme explaining the syndrome's lifelong manifestations.
• To contextualize findings within existing clinical research.

Main Methods:

• Literature review and synthesis of clinical studies on Rett syndrome.
• Analysis of physiological accompaniments of respiratory dysfunction.
• Development of a theoretical model for syndrome progression.

Main Results:

• Respiratory disorders and vacant spells are key features.
• Rett syndrome is characterized by developmental, not degenerative, brain abnormalities.
• Clinical signs emerge due to maturation acting on a genetically determined processing defect.

Conclusions:

• Rett syndrome results from an early genetic defect in central receptive processing.
• This defect leads to motor planning failures and extrapyramidal rhythm release.
• Developmental progression unmasks these underlying neurological deficits.