Rett Syndrome Symptoms & Diagnosis

Symptoms

A girl with Rett syndrome will start developing normally. She will smile, move, and pick items up with her fingers. But by 18 months of age, the developmental process seems to stop or reverse itself. The age of onset and the severity of symptoms can vary. There are four stages. Symptoms include:

Stage I: Early Onset Stage

Age: 6 to 18 months
Duration: months

Symptoms may include:

Less eye contact with parents
Less interest in toys and play
Handwringing
Slow head growth
Calm, quiet baby

Stage II: Rapid Destructive Stage

Age: 1 to 4 years
Duration: weeks to months

Symptoms may include:

Small head
Mental retardation
Loss of muscle tone
Inability to purposely use hands
Loss of (previous) ability to talk
Repeatedly moving hands to mouth
Other hand movements, such as clapping, tapping, or random touching
Hand movements stop during sleep
Holding breath, gaps in breathing, taking rapid breaths
Irregular breathing stops during sleep
Teeth grinding
Laughing or screaming spells
Decreased social interactions
Irritability
Trouble sleeping
Tremors
Cold feet
Trouble crawling or walking

Stage III: Plateau Stage

Age: preschool through school years
Duration: years

Symptoms may include:

Difficulty controlling movement
Seizures
Less irritability and crying
Communication may improve

Stage IV: Late Motor Deterioration Stage

Age: when stage III ceases, can be anywhere from age 5 to 25
Duration: up to decades

Symptoms may include:

Decreased ability to walk
Muscle weakness or wasting
Stiffness of muscles
Spastic movements
Scoliosis (curvature of the spine)
Breathing trouble and seizures often decrease with age
Puberty usually begins at the expected age

Scoliosis

Diagnosis

The doctor will:

Ask about your child’s symptoms and medical history
Do a physical and neurological exam
Exclude other disorders, such as autism
Do genetic testing can often confirm the diagnosis

Ninety-five percent of girls with Rett Syndrome and 50% of those with the atypical form have the MECP2 mutation. But, not everyone with this mutation will have Rett syndrome. Some females may be normal or have only mild symptoms. But, these women can pass the gene to their daughters. The daughters may then be more severely affected.

Some of the motor functions of Rett syndrome are similar to those of autism. Children with autism, who are more often boys, do not maintain person-to-person contact. Most girls with Rett syndrome, though, prefer human contact to focusing on inanimate objects. These differences may give the first clue in diagnosing Rett syndrome.

Aside from genetic testing, the diagnosis is confirmed by comparing the physical and developmental findings with those typically found in Rett syndrome.

Tests may include:

Blood test—to check for genetic mutation (MECP2)
Electroencephalogram (EEG)—a test that records the electrical activity of the brain
Video-EEG—a test that combines EEG with a video to see if some of the child's movements are caused by seizures

Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition. Copyright © 2024 EBSCO Publishing All rights reserved.