What is rett syndrome?

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. Rett syndrome almost exclusively affects females.

What are some symptoms of rett syndrome?

Symptoms of rett syndrome appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills. Hypotonia (loss of muscle tone) is usually the first symptom. As rett 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 and can be pretty sudden. Another symptom of rett syndrome, apraxia (inability to perform motor function), is perhaps the most severely disabling feature of rett syndrome; it interferes 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; gait disturbances, teeth grinding and difficulty chewing; slowed growth; seizures; cognitive disabilities; and breathing difficulties while awake, such as hyperventilation.

How does rett syndrome progress?

Rett syndrome is commonly divided into four stages:

Stage I – Early Onset (6 – 18 months): Signs and symptoms in this stage are subtle and usually overlooked. There is a small decrease in head growth. There is a decrease in eye contact as well as interest in toys. Some gross motor delays, such as sitting and crawling, may be apparent, too.

Stage II – Rapid Destructive (1 – 4 yrs): This stage is characterized by a functional loss in hand skills and Rett Syndromespoken language. Repetitive and purposeless hand movement emerge, such as wringing, washing, clapping, or tapping, as well as repeatedly moving the hands to the mouth. Breathing irregularities such as episodes of apnea and hyperventilation may occur. Loss of social interaction and communication is also apparent at this stage as well as general irritability and sleep irregularities. Gait patterns are unsteady and initiating motor movements can be difficult.

Stage III – Plateau (2 – 10): Apraxia, motor problems, and seizures are prominent during this stage. However, there may be improvement in behavior with less irritability, crying, and repetitive behaviors. Children in Stage III may show more interest in their surroundings; their alertness, attention span, and communication skills may improve. Many children remain in this stage for most of their lives.

Stage IV — Late Motor Deterioration: This stage is characterized by reduced mobility. Other prominent features include muscle weakness, rigidity (stiffness), spasticity, dystonia (increased muscle tone with abnormal posturing of extremity or trunk), and scoliosis (curvature of the spine). Individuals who were previously able to walk may stop walking. Most often there is no decline in cognition, communication, or hand skills at this stage. Repetitive hand movements may decrease, and eye gaze usually improves.

General treatment for rett syndrome

Treating rett syndrome requires a multidisciplinary approach, including regular medical care, physical, occupational and speech therapy, and academic, social, and vocational services. In addition, medications may help control some of the symptoms associated with the disorder, such as seizures and muscle stiffness.

Our approach to rett syndrome at North Shore Pediatric Therapy

Our multidisciplinary team can target different skill-deficits presented by individuals diagnosed with rett syndrome.

  • A physical therapist may use braces or casts to help children who have scoliosis. Physical therapy can also help maintain walking skills, balance, and flexibility.
  • Through occupational therapy, the use of hands can become more functional. If repetitive arm and hand movement is a problem, splints that restrict elbow or wrist motion may be helpful. Self-help skills can be targeted through occupational therapy.
  • Speech therapy can help improve a child’s life by improving oral motor movements and increasing her expressive language. It can also help non-verbal children with different functional communication techniques.
  • Through nutritional support, children with Rett Syndrome may respond favorably to a high-fat, high-calorie diet. Others may need to be fed through a tube placed in the nose or directly in the stomach.
  • An individualized treatment plan for an Applied Behavior Analysis (ABA) program would target individual programs with each larger domain (visual performance, receptive language, cooperation, and attention, as well as expressive language) to systematically teach children the skills necessary to enable them to communicate wants and needs and to become more independent and functional in adult life.


International Rett Syndrome Foundation 2008.

National Institute of Neurological Disorders and Stroke. 2008. Rett Syndrome Fact Sheet.

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