Rett Syndrome

Occurs almost exclusively in females.

Incidence is 0.4–0.7:10,000.

Abnormal control of ventilation, with periods of apnea and hyperventilation

May have GE reflux

Multiple orthopedic and motor movement disorders

Risk of periop apnea not known

Risk of succinylcholine-induced hyperkalemia not known

Aspiration due to GE reflux and swallowing disorder

Cardiac: Prolonged QTc, abnormal autonomic regulation, increased incidence of sudden death

Difficult intraop positioning because of spasticity and contractures

Characterized by normal early growth and development followed by a slowing of development and then regression characterized by loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability

Dx based on clinical characteristics with inclusion and exclusion criteria, mutations in MECP2 gene

Abnormal EEG; nonspecific changes

Pathognomonic stereotyped hand movements, tortuous hand-wringing or other hand automatisms

Seizures very common

Respirations abnormal when awake; hyperventilation alternating with hypoventilation or apnea and hypoxemia

Orthopedic and movement disorders such as scoliosis, spasticity, ataxia, loss of locomotion

ANS dysfunction with increased sympathetic tone

Cachexia

Mutations in the MECP2 gene’ mechanism not yet determined.

MECP2 is needed for brain development and acts as one of the many biochemical switches in gene expression.

Although genetic, most cases occur spontaneously.

Dx made by Hx and clinical features (inclusion and exclusion criteria established).