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252: RETT SYNDROME

Kay Tasso, PhD, PT, PCS

CONDITION/DISORDER SYNONYM

  • Rett syndrome (RS)

ICD-9-CM CODE1

  • 299 Pervasive developmental disorders

ICD-10-CM CODE2

  • F84.2 Rett syndrome

PREFERRED PRACTICE PATTERN

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

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.

TABLE 252-1Types of Severe Mental Retardation
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TABLE 252-1 Types of Severe Mental Retardation

  1. Dysmorphic defect with somatic developmental abnormalities in non-nervous structures

    1. Those affecting cranioskeletal structures

      1. Microcephaly

      2. Macrocephaly

      3. Hydrocephalus (including myelomeningocele with Chiari malformation and associated cerebral anomalies)

      4. Down syndrome

      5. Cretinism (congenital hypothyroidism)

      6. Mucopolysaccharidoses (Hurler, Hunter, and Sanfilippo types)

      7. Acrocephalosyndactyly (craniostenosis) and other craniosomatic abnormalities

      8. Arthrogryposis multiplex congenita (in certain cases)

      9. Rare specific syndromes: De Lange

      10. Dwarfism, short stature: Russel-Silver dwarf, Seckel bird-headed dwarf, Rubinstein-Taybi dwarf, Cockayne-Neel dwarf, etc.

      11. Hypertelorism, median cleft face syndromes, agenesis of corpus callosum

    2. Those affecting nonskeletal structures

      1. Neurocutaneous syndromes: tuberous sclerosis, Sturge–Weber, neurofibromatosis

      2. Congenital rubella syndrome (deafness, blindness, congenital heart disease, small stature)

      3. Chromosomal disorders: Down syndrome, some cases of Klinefelter syndrome (XXY), XYY, Turner (XO) syndrome (occasionally), and others

      4. Laurence-Moon-Biedl syndrome (retinitis pigmentosa, obesity, polydactyly)

      5. Eye disorders: toxoplasmosis (chorioretinitis), galactosemia (cataract), congenital rubella

      6. Prader–Willi syndrome (obesity, hypogenitalism)

  2. Nondysmorphic mental defect without somatic anomalies but with cerebral and other neurologic abnormalities

    1. Cerebral spastic diplegia

    2. Cerebral hemiplegia, unilateral or bilateral

    3. Congenital choreoathetosis or ataxia

      1. Kernicterus

      2. Status marmoratus

    4. Congenital ataxia

    5. Congenital atonic diplegia

    6. Syndromes resulting from hypoglycemia, trauma, meningitis, and encephalitis

    7. Associated with other neuromuscular abnormalities (muscular dystrophy, cerebellar ataxia, etc.)

    8. Cerebral degenerative diseases (lipidoses)

    9. Associated with inborn errors of metabolism (phenylketonuria, other aminoacidurias, organic acidurias, Lesch–Nyhan syndrome)

    10. Congenital infections (some cases of congenital syphilis, cytomegalic inclusion disease)

  3. Genetic mental defect with minor or no signs of somatic abnormality or neurologic disorder

    1. Infantile autism, Renpenning, Williams, fragile X, Partington, and Rett syndromes

Source: Ropper AH, Samuels MA. Adams & Victor’s Principles of Neurology. 9th ed. New York, NY: McGraw-Hill; 2009.

KEY FEATURES

Description

  • 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

Essentials of Diagnosis

  • Four stages5,6

    • Stage 1: Developmental arrest (6–18 months): ...

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