Rett Syndrome

Original Editors - Sofie Bourdinon

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Definition/Description

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Clinically Relevant Anatomy

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Epidemiology /Etiology

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Characteristics/Clinical Presentation

Rett syndrome is characterized by normal development during the first few months of life followed by regression of motor and communication skills, cognitive impairment, stereotypic hand movements, abnormal breathing, and gait abnormalities (). In Rett syndrome the central nervous system is primarily affected, however it often manifests as a multi-system disorder that impacts a child’s growth, pubertal development and overall health (.

Comorbidities are common in Rett syndrome, including gastrointestinal problems, scoliosis, epilepsy, unusual breathing patterns, sleep disturbances and low bone density leading to increased risk of fractures (Downs et al., 2016). Scoliosis is the most prevalent orthopedic comorbidity, occurring by age 15 in approximately 75% of individuals with Rett syndrome (Downs, Torodel & Wong, 2016). Altered sensitivity to pain is another characteristic that individuals with Rett syndrome may experience (Downs, Geranton & Bebbington, 2010).

Signs and symptoms of Rett syndrome include:

Developmental and language skills
• Early developmental skills usually acquired but many later than normal (Percy, 2016)
• Significantly impaired communication and cognitive abilities (Boston Children’s Hospital)
• Many children lose ability to speak at around 12 to 18 months (Boston Children’s Hospital)
• Gross motor and receptive language acquisition often superior to fine motor and expressive language skills (Percy, 2016)
• Mathematics and reading skills are delayed or absent (Percy, 2016)

Apraxia (Boston Children’s Hospital)
• Inability or impaired ability to perform tasks or movements
• Deficits in movements such as eye gaze and speech
• Complex motor skills such as managing stairs or riding a bike are delayed or absent (Percy, 2016)

Hand movements
• Hang wringing/squeezing, clapping/tapping, mouthing and washing/rubbing automatisms are stereotypical in Rett syndrome (Neul et al., 2010)
• Repeatedly moving the hands towards the mouth (Boston Children’s hospital)

Breathing Irregularities (Boston Children’s Hospital)
• Apnea (breath holding)
• Hyperventilation
• Air swallowing

Other neurological symptoms (BCH)
• Epilepsy
• Sleep disturbances
• Tremors
• Excess salivation
• Cognitive impairments

Symptoms affecting other parts of the body
• Scoliosis
• Microcephaly (small head size)
• Small hands and feet
• Gastrointestinal problems, including reflux and constipation
• Teeth grinding, issues with chewing and swallowing
• Heart rhythm abnormalities
• Low muscle tone
• Dystonia
• Toe walking

Diagnostic Procedures

  Table 1: Diagnostic Criteria for Rett Syndrome. Adapted from Neul et al. (2010)

Main criteria	Required for typical RTT	Exclusion criteria for typical RTT	Required for atypical RTT
• Partial or complete loss of acquired purposeful hand skills • Partial or complete loss of acquired spoken language • Gait abnormalities • Stereotypic hand movements	• Period of regression followed by recovery or stabilization • All main criteria and all exclusion criteria • Supportive criteria often present	• Brain injury secondary to trauma • Grossly abnormal psychomotor development in first 6 months of life	• A period of regression followed by recovery or stabilization • 2/4 of main criteria • 5/11 supportive criteria

Diagnostic Procedures

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Outcome Measures

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Examination

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Medical Management

The medical care and management for Rett Syndrome (RS) is symptomatic and varies among each person with RS. For example, persons with RS may take antiepileptic drugs for seizures and antidepressant drugs for anxiety  Currently, there is no effective treatment available; however, there are several potential avenues under investigation. Research on MeCP2 deficient mice suggests that the effects of dopamine agonists (levodopa) may be a potential treatment on motor dysfunction in RS.

In addition to pharmacologic treatments, orthopaedic approaches may be required for the management contractures or scoliosis in efforts to optimize gait or skeletal alignment. Specifically, surgery should be considered when lateral curvatures exceed 45 degrees. Similarly, feeding disorders among persons with RS may have a gastrotomy tube inserted to prevent aspiration during feeding (Downs et al., 2016). Furthermore, maintaining good bone health is also an area of management for persons with RS. Both pharmacological and non-pharmacological methods to improving bone density and reducing fractures are shown to be effective. In particular, RS guidelines emphasize vitamin D supplementation and increasing levels of physical activity.

Other health care professionals also play a crucial role in the treatment of persons with RS. Some may include:
- Speech-language pathologists – treatments targeted towards developing communication skills including non-verbal forms of communication (eye gaze, symbol boards), speech and language development
- Occupational therapists – therapy focused on achieving independence with activities of daily living and control over movements (Hank, Opitz, & Reynolds, 1986)

Physical Therapy Management

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Key Research

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Resources

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Clinical Bottom Line

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Recent Related Research (from <a href="http://www.ncbi.nlm.nih.gov/pubmed/">Pubmed</a>)

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References

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