By Aileish Kate Jaudian

8-Orion
November 26, 2019
 It is a genetic neurological disorder that
affects the development of the brain which
caused a progressive loss of motor skills and
speech
 This order is more common for females
(almost exclusively)
 Current estimates suggested that 1 in 10,000
females are affected
 Slowed growth
 Loss of normal
movements and
coordination
 Loss of communication
abilities
 Abnormal hand
movements
 Unusual eye movements
 Breathing problems
 Irritability and crying
 Cognitive disabilities
 Seizures
 Abnormal curvature of the
spine (Scoliosis
 It affects the nervous
system
 It affects the motor
function,
communication
function, language
function of the brain
and so forth.
 It was all because of the
mutation of the specific
gene called MECP2
(Methyl CpG binding
protein 2
 It is diagnosed by a physical exam and detailed
information about the child’s development and medical
history
 Genetic DNA Blood test
 Even if they found a MECP2 variation, the child is not
diagnosed with Rett Syndrome if he or she doesn’t fit the
clinical diagnosis criteria

 It is not well studied but living with the disorder to mid-20s

is likely
 Average life expectantcy is mid 40s
 But for males that are affected rarely live more than early
infantry
 In 1954, Dr. Andreas Rett, A pediatrician in
Vienna, Austria, observed two girls making the
same repetitive hand washing motions. He
compared their clinical and developmental
histories. After that he publisehd his findings in
German medical journals in 1966.
 Dr. Bengt Hagberg became aware of the similar
symptoms in some girls and wrote an article
about it in 1982. Because of that, it finally raised
the profile of Rett Syndrome.
 Major Breakthrough occured in 1999 when a
researcher named Ruther Amir discovered MECP2
 It is caused by a mutation of MECP2 which is
located in Xq28 site on the X chromosome.
 But that doesn’t mean that a MECP2 has the
disorder. They also identified the mutation of
CDKL5 and FOXG1 genes can also caused Rett
Syndrome. But they’re still learning how those
mutation caused the disease.
 Scientists believe the remaining cases may be
caused by gene deletions, mutations in other
parts of the MECP2 or additional genes that have
not been identified, and they continue to look for
other causes
 Although Rett Syndrome is a genetic
disorder, less than 1 percent of recorded
cases are inherited. Most cases are
sporadic, which means the mutation occurs
randomly.
 This disorder is an X-linked dominant
pattern of inheritance.
 Unfortunately, there is no cure for Rett
Syndrome.
 But there are some treatments to help with
the symptoms like:
 Regular medical care
 Medications
 Physical therapy
 Occupational therapy
 Speech-language therapy
 Nutritional support
 Behavioural intervention
 Support services
 The reversal of the Rett syndrome disease
process in the Mecp2 mouse model of Guy et al.
(2007) has motivated families and researchers to
work on this condition.
 One of the greatest known challenges to
delivering a permanent, “for ever”, cure for Rett
syndrome comes from what scientists call the
‘Goldilocks principle’. That is, the amount of
protein needs to be just right in each brain cell,
as too much MECP2 protein can be as bad as too
little.
 Hopes of overcoming the ‘Goldilocks’ issue are
based on the process of X-chromosome
inactivation.
 Actually, most infants with the disorder
behave normally before six months. After
that, signs and symptoms start to appear
 There are four stages of Rett Syndrome and
that is:
 Stage I – Early onset (6-18 months)
 Stage II –Rapid Deterioration (1-4 years)
 Stage III – Plateau (10 years)
 Stage IV – Late Deterioration of Motor Skills (10 years)
 It used to be considered part of Autism
Spectrum Disorder (ASD), but not anymore
because it’s now known as a genetic disorder