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Rett’s disorder
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Rett’s disorder

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Rett’s disorder Rett’s disorder Presentation Transcript

  • Rett’s Disorder Ivy S. Gementiza, RN
  • OVERVIEW
  • • Retts disorder presents almost exclusively in females• With manifestations following “normal” development in the first 6 to 18 months of life• The normal period is followed by a loss of previously attained motor skills and coordination, characteristically seen as loss of purposeful hand skills View slide
  • • These regressive symptoms begin most commonly in the 1st or 2nd year of life• Severe delays in expressive and receptive language development, psychomotor delays, profound cognitive impairment, and pervasive growth failure occur View slide
  • • Abnormalities are detected on EEG for most children with Retts disorder• A clinical characteristic correlated with Retts disorder is a decelerated rate of head growth between ages 5 and 48 months, resulting in microcephaly
  • PATHOPHYSIOLOGY ANDETIOLOGY
  • • There is little information as to the etiology of Retts disorder• The incidence of the disorder is rare – About 3,000 females in the United States having been diagnosed
  • DIAGNOSIS ANDMANAGEMENT
  • • Diagnosis has historically been based on clinical criteria• Because the gene mutation involved in Retts disorder was discovered in 1999, testing now involves mutation analysis on leukocyte DNA for the gene MECP2• The prognosis of Retts disorder is limited.
  • • Some small increases in development and interactions may be achieved in late childhood and early adolescence• The disorder is lifelong
  • • Children with Retts disorder are also at risk for – growth failure – breathing irregularities (hyperventilation or breath-holding spells) – seizure disorder – absence of adaptive skills – Scoliosis – self-injurious behavior – sleep disturbances
  • • Health care providers need to be knowledgeable about these common comorbidities and manage them appropriately to optimize health and functioning of the child with Retts disorder
  • • GI or nutritional problems are common in patients with Retts disorder – frequent need for gastrostomy feeding – increased protein demand – GERD – gallbladder disease – constipation
  • • A gastroenterologist should be an essential part of the health care team• A multidisciplinary team is essential for optimal care: – Primary care provider – Medical subspecialists – Occupational, speech, and physical therapists – Educational specialist