RETT SYNDROME
 
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RETT SYNDROME

 

DEFINITION:

A neurodegenerative disorder characterized by psychomotor regression, stereotyped hand movements, ataxic gait, and autistic behaviour.

EPIDEMIOLOGY:

  • incidence: 1/12,000-15,000 girls
  • age of onset:
    • 5 to 18 months with a mean of 12 months
  • risk factors:
    • familial - sporadic, ? X-linked dominant
      • chrom.#: Xp
      • gene: ?
    • females only

PATHOGENESIS:

1. Background

  • first described by Austrian paediatrician Dr. Andreas Rett in 1965
  • unknown etiology

CLINICAL FEATURES:

1. Neurological Manifestations

1. Initial

  • apparently normal prenatal and perinatal period
  • normal psychomotor development in 1st 6-12 months of life

1. Psychomotor Regression

  • begins between 5-18 months
  • initially regression is rapid
  • loss of gross motor skills
    • loss of acquired purposeful hand movements between 6-30 months of age
    • fine tremor of hands
    • gait ataxia
  • loss of ability to communicate
    • loss of language skills
    • beginning of autistic-like behaviour

2. Microcephaly

  • initial normal head circumference with deceleration in size (i.e., acquired)

2. Later

1. Psychomotor Regression

  • continued loss of motor skills
    • stereotyped hand movements
      • blows to face
      • hand-to-mouth (hand-wetting)
      • hand wringing or washing
    • gait apraxia and truncal apraxia and ataxia between 1-4 years of age
  • severe progressive dementia

2. Seizures

  • occur between 2-4 years of age
    • generalized tonic-clonic
    • myoclonic
    • partial complex
    • atypical motor

3. Breathing Dysfunction

  • signing respirations with intermittent periods of apnea associated with circumoral cyanosis and diffuse perspiration (peripheral vasomotor disturbances)

4. Others

  • feeding disorders and growth retardation
  • constipation
  • dystonia
  • spasticity +/- scoliosis
  • the period of rapid decline is followed by a plateau where there may be the persistence of austic-like behaviour and spastic paraparesis or quadriparesis

INVESTIGATIONS:

1. Imaging Studies

1. CT/MRI

  • normal or mild non-specific cortical atrophy

2. Pathology

  • nonspecific findings in central nervous system (CNS):
    • diffuse cerebral atrophy with neuronal cell loss
    • increased amounts of neuronal lipofuscin
    • underpigmentation of substantia nigra
    • degenerating axons in caudate nucleus and peripheral nerves
  • normal skin biopsy

3. Electrodiagnostic Studies

1. EEG

  • paroxysmal abnormalities with evidence of seizure activity

2. Evoked Potentials

  • normal

3. Nerve Conduction Studies

  • normal

4. Cerebral Spinal Fluid

  • ? elevated endorphins

MANAGEMENT:

1. Supportive

  • no treatment available for the disorder
  • multidisciplinary approach for ongoing problems
    • Paediatrics, Neurology, Ortho, PT, OT
  • facilitated communication

2. Medications

1. Naltrexone

  • an opiate receptor-blocking agent
  • decreases beta-endorphin levels
  • may relieve respiratory symptoms, seizure frequency, and behavioural abnormalities
  • 1-2 mg/kg/day

2. Anticonvulsants

  • carbamazepine
  • clonazepam
  • valproic acid

INTERNET LINKS:

Our Rett Syndrome Page
 Living With Rett Syndrome
 

 

Pediatric Database - RETT SYNDROME

 

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