What is the typical presentation of Rett syndrome in girls?

Rett syndrome is a neurodevelopmental disorder primarily affecting girls, and it is characterized by a specific pattern of developmental regression after a period of apparently normal development. The hallmark feature of Rett syndrome includes the loss of purposeful hand skills, which often presents as hand-wringing movements or repetitive, non-functional hand motions. Additionally, there is a notable regression in speech, which may include a loss of previously acquired language skills and a general decline in social engagement.

This regression typically starts between 6 to 18 months of age, following an initial stage of normal growth and development. As the condition progresses, other symptoms may arise such as motor difficulties and seizures, but the core presentation of losing purposeful hand skills and a decline in verbal communication is what distinctly characterizes Rett syndrome.

In contrast, while hyperactivity and impulsiveness, breathing difficulties during sleep, and severe headaches with visual impairments may be associated with other neurological or developmental disorders, they do not align with the classical symptoms or the diagnostic criteria for Rett syndrome. Therefore, the correct description of Rett syndrome is indeed marked by the loss of purposeful hand skills and regression of speech.