| Rett Syndrome Treatments and Research Advancement |
Rett syndrome (RS) is a rare genetic disorder affecting mainly
females (about one in 10,000 girls). And, boys who are
stricken mostly die in infancy.
It is considered the second most frequent cause for severe and
complex neurological dysfunction in females after Down
syndrome. Patients with Rett syndrome are characterized by
an array of neurological and orthopedic difficulties that
mandate an intensive therapeutic intervention program for the
duration of the individual's life. [2] In the majority of cases, it is
caused by a mutation in MECP2, an X-linked gene, and
considered the most common multi-disabling genetic disorder
in females after Down syndrome. [1] However, MeCP2
dysfunction has also been shown to cause abnormalities of
RNA splicing, suggesting a complex molecular pathogenesis.
[4]
Individuals with Rett syndrome (RS) present a vast array of
orthopedic and neurological difficulties. Typical problems,
which may need to be addressed, when treating this population
are functional limitations, low cardiovascular capacity,
hypotonia, ataxia, apraxia, loss of transitional movements,
spasticity, scoliosis and/or kyphosis, loss of ambulation, loss of
hand function, foot deformities, and spatial disorientation.
Lotan M from Chaim Sheba Medical Center , Israel, believes
that an informed and intensely applied physical therapy regime
can help the child and the family cope and even overcome the
certain limitations. [3]
Recently, Dr. Adrian Bird, from Scotland's Edinburgh University
found that gene therapy might be beneficial for Rett syndrome
in his animal study. He first switched off MECP2 in male mice
by inserting a chemical roadblock into the gene that they could
switch on and off with medication. When the gene was
switched off, baby mice hardly moved and died within weeks.
When he switched the gene back on gradually increasing gene
activity, he rescued almost all mouse. Unfortunately, he couldn't
test the cognitive functions but only the physical ones.
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ALL RIGHTS RESERVED ZHION 2007
[1] Lotan M, Ben-Zeev B. Rett syndrome. A review with emphasis on clinical characteristics
and intervention. ScientificWorldJournal. 2006 Dec 6;6:1517-41. [2] Lotan M. Rett
syndrome. Guidelines for individual intervention. ScientificWorldJournal. 2006 Dec
6;6:1504-16. [3] Lotan M, Hanks S. Physical therapy intervention for individuals with Rett
syndrome. ScientificWorldJournal. 2006 Oct 10;6:1314-38. [4] Moretti P, Zoghbi HY.
MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev. 2006
Jun;16(3):276-81. Epub 2006 May 2. [5] Study raises hope for Rett syndrome cure AP
February 2007
females (about one in 10,000 girls). And, boys who are
stricken mostly die in infancy.
It is considered the second most frequent cause for severe and
complex neurological dysfunction in females after Down
syndrome. Patients with Rett syndrome are characterized by
an array of neurological and orthopedic difficulties that
mandate an intensive therapeutic intervention program for the
duration of the individual's life. [2] In the majority of cases, it is
caused by a mutation in MECP2, an X-linked gene, and
considered the most common multi-disabling genetic disorder
in females after Down syndrome. [1] However, MeCP2
dysfunction has also been shown to cause abnormalities of
RNA splicing, suggesting a complex molecular pathogenesis.
[4]
Individuals with Rett syndrome (RS) present a vast array of
orthopedic and neurological difficulties. Typical problems,
which may need to be addressed, when treating this population
are functional limitations, low cardiovascular capacity,
hypotonia, ataxia, apraxia, loss of transitional movements,
spasticity, scoliosis and/or kyphosis, loss of ambulation, loss of
hand function, foot deformities, and spatial disorientation.
Lotan M from Chaim Sheba Medical Center , Israel, believes
that an informed and intensely applied physical therapy regime
can help the child and the family cope and even overcome the
certain limitations. [3]
Recently, Dr. Adrian Bird, from Scotland's Edinburgh University
found that gene therapy might be beneficial for Rett syndrome
in his animal study. He first switched off MECP2 in male mice
by inserting a chemical roadblock into the gene that they could
switch on and off with medication. When the gene was
switched off, baby mice hardly moved and died within weeks.
When he switched the gene back on gradually increasing gene
activity, he rescued almost all mouse. Unfortunately, he couldn't
test the cognitive functions but only the physical ones.
HOME
ALL RIGHTS RESERVED ZHION 2007
[1] Lotan M, Ben-Zeev B. Rett syndrome. A review with emphasis on clinical characteristics
and intervention. ScientificWorldJournal. 2006 Dec 6;6:1517-41. [2] Lotan M. Rett
syndrome. Guidelines for individual intervention. ScientificWorldJournal. 2006 Dec
6;6:1504-16. [3] Lotan M, Hanks S. Physical therapy intervention for individuals with Rett
syndrome. ScientificWorldJournal. 2006 Oct 10;6:1314-38. [4] Moretti P, Zoghbi HY.
MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev. 2006
Jun;16(3):276-81. Epub 2006 May 2. [5] Study raises hope for Rett syndrome cure AP
February 2007