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CONDITION/DISORDER SYNONYM

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  • Rett syndrome (RS)

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ICD-9-CM CODE1

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  • 299 Pervasive developmental disorders

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ICD-10-CM CODE2

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  • F84.2 Rett syndrome

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PREFERRED PRACTICE PATTERN

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  • 5E Impaired Motor Function and Sensory Integrity Associated With Progressive Disorders of the Central Nervous System3

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PATIENT PRESENTATION

A 2-year-old female child is referred to physical therapy for developmental delay. The mother reports an uneventful pregnancy and delivery. Upon examination, the therapist notes the child is hypotonic, “crawls” on her knees as her primary method of mobility, and sits independently but does not take weight on her legs when held in standing. She is nonverbal with very few vocalizations and almost constantly wrings her hands at midline. Her mother reports the child has an appointment with geneticist in a few weeks.

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Table Graphic Jump Location
TABLE 252-1Types of Severe Mental Retardation
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KEY FEATURES

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Description
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  • Mutation in the X chromosome gene encoding methyl-CpG-binding protein

  • Progressive genetic disorder characterized by

    • Regression of motor skills

    • Wringing of hands

    • Dystonia

    • Hypotonia

    • Bruxism

    • Ataxic gait4

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Essentials of Diagnosis
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  • Four stages5,6

    • Stage 1: Developmental arrest (6–18 months): lack of eye contact, head ...

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