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  • Rett syndrome

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  • 299 Pervasive developmental disorders

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  • F84.2 Rett syndrome

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Description

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  • Mutation in the X chromosome gene encoding methyl-CpG-binding protein-2
  • 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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  • 4 stages5,6
    • Stage 1: developmental arrest (6 to 18 months): lack of eye contact, head growth slows, hypotonia, development plateaus, hand wringing, breath holding
    • Stage 2: rapid regression (1 to 4 years old): wringing of hands, no expressive speech, seizures, developmental decline, sleep disorder, strabismus
    • Stage 3: pseudostationary period (2 to 10 years old): ataxia, rigidity, bruxism, good eye contact, oral motor dysfunction
    • Stage 4: late motor deterioration and growth retardation (over 10 years old): Parkinsonism (drooling, bradykinesia), hypertonia, dystonia, arrest in cognitive decline

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General Considerations

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  • Associated disorders
    • Early onset seizures (60 to 90%)6
    • Lack of speech
    • Repetitive behaviors
    • Gastrointestinal disorders
    • Swallowing disorders
    • Sleeping during day
    • Sudden death
    • Unusual breathing pattern5

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Demographics

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  • Primarily occurs in young girls4
  • 1 in 10,000-20,0005

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Signs and Symptoms

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  • Plateau or regression in motor skills
  • Wringing of hands
  • Delays in the following areas
    • Gross motor skills
    • Oral motor skills7
    • Speech and/or language skills7
  • Bruxism4
  • Ataxia8
  • Spasticity8 (late sign)
  • Kyphoscoliosis (8- to 11-year-olds)6,8
  • Foot deformities8 (late sign)

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Functional Implications

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  • Hypotonia
  • Poor head control as infant
  • Lack of functional hand use
  • Inability to communicate
  • Unable to follow directions
  • Inability to ambulate

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Possible Contributing Causes

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  • Genetic mutation of Xq285

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Differential Diagnosis

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  • Autism
  • Infantile spasms
  • Angelman syndrome5

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Laboratory Tests

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  • DNA analysis
  • Abnormal metabolites in cerebrospinal fluid4

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Imaging

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  • Barium swallow6

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Medical Procedures

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  • Abnormal levels of 5-hydroxyindoleatic acid and catecholamine metabolites are found in the cerebrospinal fluid4

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Medication

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  • Geneticist
  • Neurologist
  • Orthopedist for possible scoliosis
  • Occupational therapist
  • Speech therapist

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  • Decreased strength
  • Inability to ambulate
  • Difficulty with transfers
  • Lack of functional hand use
  • Dependent for activities of daily living

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  • Developmental activities
    • Acquisition of motor ...

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