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Condition/Disorder Synonyms

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  • Rett syndrome

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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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Key Features

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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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Clinical Findings

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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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Means of Confirmation or Diagnosis

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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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  • Echocardiogram for cardiac defects

  • Electroencephalogram for seizures

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Findings and Interpretation

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

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Treatment

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Medication

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  • Naltrexone for breathing difficulties

  • Bromocriptine

  • Carnitine

  • Lamotrigine

  • Carbamazepine

  • Valproic acid

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Referrals/Admittance

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  • Geneticist

  • Neurologist

  • Orthopedist for possible scoliosis

  • Occupational therapist

  • Speech therapist

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