1. Rett’s Disorder
Ivy S. Gementiza, RN

2. OVERVIEW

3. • Rett's 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

4. • 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

5. • Abnormalities are detected on EEG for
most children with Rett's disorder
• A clinical characteristic correlated with
Rett's disorder is a decelerated rate of
head growth between ages 5 and 48
months, resulting in microcephaly

6. PATHOPHYSIOLOGY AND
ETIOLOGY

7. • There is little information as to the
etiology of Rett's disorder
• The incidence of the disorder is rare
– About 3,000 females in the United
States having been diagnosed

8. DIAGNOSIS AND
MANAGEMENT

9. • Diagnosis has historically been based
on clinical criteria
• Because the gene mutation involved in
Rett's disorder was discovered in 1999,
testing now involves mutation analysis
on leukocyte DNA for the gene MECP2
• The prognosis of Rett's disorder is
limited.

10. • Some small increases in development
and interactions may be achieved in late
childhood and early adolescence
• The disorder is lifelong

11. • Children with Rett's 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

12. • Health care providers need to be
knowledgeable about these common
comorbidities and manage them
appropriately to optimize health and
functioning of the child with Rett's
disorder

13. • GI or nutritional problems are common
in patients with Rett's disorder
– frequent need for gastrostomy feeding
– increased protein demand
– GERD
– gallbladder disease
– constipation

14. • 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