RETT SYNDROME

Introduction

Rett Syndrome is a rare pediatric neurodevelopmental disorder that primarily affects females and is characterized by severe cognitive and physical impairment. Rett Syndrome is primarily caused by the MECP2 gene, which plays a crucial role in regulating gene expression during brain development.

Symptoms

Cognitive Impairment

The hallmark symptom of Rett Syndrome is a loss of purposeful gross motor skills. Rett Syndrome has a slow onset of symptoms, and is typically diagnosed between 1-2 years of age. Most commonly, parents will notice a regression of acquired skills like language and social engagement followed by a regression in large motor skills (I.E. Patient goes from walking to primarily crawling). Along with a loss of purposeful motor movement, repetitive and uncontrolled hand movements such as hand-wringing or hand-washing motions become ever apparent in patients with Rett Syndrome. Epilepsy, scoliosis, and gait abnormalities are also common symptoms seen in Rett Syndrome.

Epilepsy

In the literature, there are not many findings of characteristic EEG patterns in patients with Rett Syndrome. Early in Rett Syndrome, EEG’s typically tend to be normal. As Rett Syndrome begins to progress centrotemporal spikes may be seen with a clinical correlation of motor impairment. As Rett Syndrome further progresses abnormalities during sleep may be seen followed by diffuse background slowing and multifocal spike and wave activity.

Figure 5.1 Rett Syndrome patient with Scoliosis

Konstantinos C Soultanis, corresponding author1 Alexandros H Payatakes,2,3 Vasilios T Chouliaras,2 Georgios C Mandellos,2 Nikolaos E Pyrovolou, Fani M Pliarchopoulou,4 and Panayotis N Soucacos1, CC BY 2.5 via Wikimedia Commons

Treatment & Prognosis

Prognosis

While most individuals with Rett Syndrome live well into adulthood, cognitive prognosis remains quite poor. Almost all patients with Rett Syndrome require 24 hour support as they maintain a cognitive level to that of a 1 year old.

Treatment

There are no direct pharmacological treatments for Rett Syndrome. However, anti-epileptic drugs are frequently used to decrease seizure frequency. Various types of therapy can help to improve the quality of life for those with Rett Syndrome, but at this time there is no treatment for the cognitive impairment experienced by these patients.