Study Questions 

1. How does Rett Syndrome manifest itself after otherwise normal early development?

2. Describe the key physical manifestations of Rett Syndrome.

3. What are its main dental manifestations?

What is Rett Syndrome? 

According to the National Institute of Neurological Disorders and Stroke (NINDS): 

“Rett syndrome is a childhood neurodevelopmental disorder characterized by normal early development followed by loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, gait abnormalities, seizures, and mental retardation. It affects females almost exclusively.” 

Click here to access the NINDS web site and learn more about Rett Syndrome.  

More information on Rett Syndrome:

• Occurs in 1:10,000 to 1:15,000 live births in females

• Rett Syndrome is an X-linked dominant disorder

• Although there are only 2000 known cases worldwide, Tufts Dental Facilities has seen a number of Rett Syndrome patients

• Average life expectancy is 28 years

Physical Manifestations 

In Rett Syndrome, pregnancy, fetal development, birth, and infancy appear normal. However, at age 6-18 months there is a rapid onset of retardation.  Some of the changes include: 

• Autistic-like behaviors

• Stereotyped movement of the hands, i.e. wringing, squeezing, clapping, “washing”

• Cessation of head growth by age 3, becoming microcephalic

• Transition to moderate/severe retardation within one year

• Ataxia of trunk and extremities

• Red/blue discoloration of hands and feet

• Loss of ability to walk

• Epileptic after age 4

• Spastic paraparesis

• Development of sleep disorders

• Loss of acquired speech (language always absent)

More from the NINDS web site:

“The course of Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Before the symptoms begin, however, the child appears to grow and develop normally. Then, gradually, mental and physical symptoms appear. Hypotonia (loss of muscle tone) is usually the first symptom. As the syndrome progresses, the child loses purposeful use of her hands and the ability to speak. Other early symptoms may include problems crawling or walking and diminished eye contact. The loss of functional use of the hands is followed by compulsive hand movements such as wringing and washing. The onset of this period of regression is sometimes sudden.

Another symptom, apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech.

Individuals with Rett syndrome often exhibit autistic-like behaviors in the early stages. Other symptoms may include toe walking; sleep problems; wide-based gait; teeth grinding and difficulty chewing; slowed growth; seizures; cognitive disabilities; and breathing difficulties while awake such as hyperventilation, apnea (breath holding), and air swallowing.”

Dental Manifestations

Dental problems in Rett Syndrome are manifested as:

• Bruxism, severe anterior wear (decreased VDO)

• Hypersalivation, gingivitis (secondary to poor oral hygiene) 

• Tongue protrusion (80%) = open bite

• Sucking habits-suck or bite on their own hands/fingers

• Some present with geographic tongue, ischemic area in palate

• Palatal shelving

• No anomalies of tooth size, form, number, structure, or eruption

• Mouth breathers: swollen tonsils & adenoids, nasopharyngeal obstruction