Central sleep apnoea in Rett syndrome.

Area of Science:

• Neurology
• Genetics
• Respiratory Medicine

Background:

• Rett syndrome is a rare genetic neurodevelopmental disorder primarily affecting girls.
• Respiratory disturbances, particularly central apnoeas, are a hallmark of Rett syndrome, predominantly observed during wakefulness.
• The MECP2 gene mutation is the primary cause of Rett syndrome.

Observation:

• This study focused on a single case of a girl with a confirmed MECP2 mutation.
• Videopolygraphic and polysomnographic monitoring were utilized to assess respiratory patterns.
• The monitoring revealed the presence of central apnoeas during both awake periods and sleep.

Findings:

• Contrary to previous reports suggesting normal respiration during sleep in Rett syndrome, this case demonstrated central apnoeas during sleep.
• The findings indicate that respiratory dysfunction in Rett syndrome is not limited to wakefulness.
• Central apnoeas can manifest during sleep in individuals with MECP2 mutations.

Implications:

• These findings challenge the established understanding of respiratory patterns in Rett syndrome.
• Further research is warranted to investigate the prevalence and mechanisms of central apnoeas during sleep in Rett syndrome.
• This may necessitate adjustments in clinical monitoring and management strategies for patients with Rett syndrome, considering potential sleep-related respiratory compromise.