RETT SYNDROME

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MALFORMATION "><U><B>DANDY-WALKER MALFORMATION </B></U></A></div> <div> <A HREF="id41.htm" TARGET="_top" TITLE="DEJERINESOTTAS DISEASE "><U><B>DEJERINE-SOTTAS DISEASE </B></U></A></div> <div> <A HREF="id42.htm" TARGET="_top" TITLE="DOWN SYNDROME "><U><B>DOWN SYNDROME </B></U></A></div> <div> <A HREF="id43.htm" TARGET="_top" TITLE="Respiratory Syncytial Virus (RSV)"><U><B>Respiratory Syncytial Virus (RSV)</B></U></A></div> <div> <A HREF="id44.htm" TARGET="_top" TITLE="FABRY DISEASE "><U><B>FABRY DISEASE </B></U></A></div> <div> <A HREF="id45.htm" TARGET="_top" TITLE="PRADERWILLI SYNDROME "><U><B>PRADER-WILLI SYNDROME </B></U></A></div> <div> <A HREF="id37.htm" TARGET="_top" TITLE="new born fun"><U><B>new born fun</B></U></A></div> <div> <B>RETT SYNDROME </B></div> <div> <A HREF="id47.htm" TARGET="_top" TITLE="Alexander Disease"><U><B>Alexander Disease</B></U></A></div> <div> <A HREF="id49.htm" TARGET="_top" TITLE="leukemia"><U><B>leukemia</B></U></A></div> <div> <A HREF="id17.htm" TARGET="_top" TITLE="Contact Me"><U><B>Contact Me</B></U></A></div> </td> <td valign="top" height=370 BGCOLOR="#FFFFFF" TEXT="#080000"> <div> RETT SYNDROME </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000008000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Rett<FONT SIZE="3" COLOR="#000000" FACE="Verdana" > </FONT>syndrome<FONT SIZE="3" COLOR="#000000" FACE="Verdana" > is a neurological disorder mainly found only in females.</FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> It was only internationally recognized as a specific <FONT SIZE="3" COLOR="#800000" FACE="Verdana" >syndrome</FONT> in 1983.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> It has a prevalence of approximately 1 in 10 000 to 1 in 15 000 females between the ages of<B> 5 and 18 years</B>,</div> <bR> <div> <B>What are the first signs of </B><FONT SIZE="3" COLOR="#800000" FACE="Verdana" ><B>Rett</B></FONT><B> </B><FONT SIZE="3" COLOR="#800000" FACE="Verdana" ><B>syndrome</B></FONT><B>?</B></div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The average girl with "classic" <FONT SIZE="3" COLOR="#800000" FACE="Verdana" >Rett</FONT> <FONT SIZE="3" COLOR="#800000" FACE="Verdana" >syndrome</FONT> displays basically <B>normal pre- and peri-natal development</B>. </div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">For the first six to eighteen months of life, physical and mental development occur normally</B>, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">although many people now feel there are subtle signs of the disorder even at this stage.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Parents often report that their daughter was especially<B> placid, being content to lay in her cot for hours at a time</B>. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Feeding problems have also been reported.</div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Some time between the ages of six to eighteen months, development begins to slow down and developmental milestones such as learning to stand, crawl and walk are delayed.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> This is followed by a period of regression.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> The girls begin to lose any fine motor, intellectual and communicative skills they many have already learnt - for example, purposeful hand use and speech.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> They may no longer be able to pick up small objects such as buttons or sultanas and they may lose words already attained.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> This is followed by a general lack of interest in personal interaction and the surroundings.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Repetitive hand movements develop, and the girl may spend practically all of her waking hours wringing or chewing on her hands. </div> <bR> <div> <B>What happens then?</B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">This can last for up to a year.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> After this, the girls seem to "wake up" and begin to take an interest in the world around them. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">By this stage it is clear that the child is developmentally delayed,<B> intellectually disabled and lacks purposeful hand movement.</B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Seizures</B> often occur for the first time around this stage and usually require medication. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The girls slowly <B>lose gross motor skills over the next few years and have increasing difficulty walking.</B> </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Many eventually become confined to a wheelchair.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Many girls also develop scoliosis. </div> <bR> <bR> <bR> <div> <B>What about the future?</B></div> <div> Adult women with Rett syndrome show a lot of individual differences in the severity of their disability. It is difficult to know what to expect because Rett syndrome is a relatively newly identified disorder and therefore longitudinal studies are yet to be carried out. Some women are unable to communicate effectively and require dressing, toileting and help with feeding and mobility. All women with Rett syndrome are incapable of living independently and require constant care throughout their lives. Innovative and flexible living arrangements such as group homes are becoming the norm in many cases.</div> <bR> <div> <IMG SRC="0f0ba030.jpg" border=0 width="186" height="259" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> <B>progressive neurological disorder in which individuals exhibit reduced muscle tone,</B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> autistic-like behavior,</B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> hand movements consisting mainly of wringing and waving,</B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> loss of purposeful use of the hands, </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">diminished ability to express feelings, </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">avoidance of eye contact,</B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> a lag in brain and head growth, </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">gait abnormalities, </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">and seizures. </B></div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Hypotonia (loss of muscle tone) is usually the first symptom. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The <FONT SIZE="3" COLOR="#800000" FACE="Arial" >syndrome</FONT> affects approximately 1 in every 10,000-15,000 live female births, with symptoms usually appearing in early childhood -- between ages 6 and 18 months. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The cause of <FONT SIZE="3" COLOR="#800000" FACE="Arial" >Rett</FONT> <FONT SIZE="3" COLOR="#800000" FACE="Arial" >syndrome</FONT> is unknown. </div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">There is no cure for <FONT SIZE="3" COLOR="#800000" FACE="Arial" >Rett</FONT> <FONT SIZE="3" COLOR="#800000" FACE="Arial" >syndrome</FONT>; however, there are several treatments options. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">These include treatments for the orthopedic and learning disabilities and seizures that may occur in individuals with <FONT SIZE="3" COLOR="#800000" FACE="Arial" >Rett</FONT> <FONT SIZE="3" COLOR="#800000" FACE="Arial" >syndrome</FONT>. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Some children may require special nutritional programs to maintain adequate weight. </div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">In spite of the severe impairments that characterize this disorder, the majority of individuals with <FONT SIZE="3" COLOR="#800000" FACE="Arial" >Rett</FONT> can be expected to reach adulthood, surviving at least into their 40s. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">However, the risk of death is increased. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Sudden, unexplained death -- possibly from brainstem dysfunction with respiratory arrest -- often occurs. </div> <bR> <div> <B><U>specificity</U></B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">(RTT) is a progressive neurodevelopmental disorder that almost exclusively <FONT SIZE="3" COLOR="#0000FF" FACE="Arial" ><B><U>affects females</U></B></FONT>.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> It has an incidence of about 1 in 10,000 births, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">making it one of the most common causes of <B>profound mental retardation in girls. </B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Individuals with RTT develop normally until the age of 6 to 18 months,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> when they begin to lose purposeful use of their hands and speech. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Affected individuals also show reduced muscle tone, wringing hand movements, autistic-like behavior and seizures. </div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">A gene which causes RTT,<B> </B><I><B>MeCP2</B></I><B>,</B> has been found on the long arm of chromosome <B>X (Xq28</B>).</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Normally, females have two X chromosomes and males have an X and a Y.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Since males do not have an additional copy of X to offset a defect, most X-linked <FONT SIZE="3" COLOR="#800000" FACE="Arial" >disease</FONT>s affect males. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Then, why are males not affected by RTT? </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">One possible explanation is that the absence of a functional copy of <I>MeCP2</I> is lethal to the male fetus before birth.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Researchers have shown this to be the case in a mouse model. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Another question is why females are affected by RTT, even though one of their X chromosomes is normal. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">This is likely due to X inactivation, a normal process whereby one X chromosome is randomly inactivated in every cell. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">This partial deficiency - where the normal copy of <I>MECP2</I> is active in some cells and inactive in others - allows girls with RTT to survive and develop normally during early infancy. </div> <bR> <div> <I><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">MeCP2</I> is believed to code for a protein which controls gene expression in the cell. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Although it is not clear what the mechanism is, partial loss of this protein may lead to over expression of certain genes, leading to the RTT phenotype</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">. With the discovery of <I>MeCP2</I>, investigators hope to develop a test for RTT which will allow for early diagnosis, prenatal detection and, ultimately, presymptomatic therapy. </div> <bR> <div> A diagnosis of <FONT SIZE="3" COLOR="#800000" FACE="Arial" >Rett</FONT> <FONT SIZE="3" COLOR="#800000" FACE="Arial" >Syndrome</FONT> has depended on the documentation of a child's growth and development and continuing evaluation of medical history and physical and neurological status. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Diagnostic criteria required include: </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Normal prenatal and perinatal development </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Normal head circumference at birth. A deceleration of head circumference around 5 months to 4 years of age. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Apparently normal initial development until between 6-18 months </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Loss of hand use </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Loss of communication skills </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Stereotypic hand movements including washing, wringing, clapping and mouthing </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Wide-based, stiff-legged gait/toe walking </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Absence of intrauterine growth retardation </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Absence of perinatal or postnatal brain injury </div> <div> Supporting criteria: </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Prolonged period of extreme emotional and/or physical distress, with inconsolable crying, agitation, breathing irregularities, food refusal and teeth grinding </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Seizures </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Spasticity, often with muscle wasting </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Curvature of the spine </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Poor circulation of lower extremities, cold and bluish-red feet and legs </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Constipation </div> <bR> <bR> <div> <IMG SRC="0ea359c0.gif" border=0 width="309" height="412" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"><IMG SRC="0eb41640.jpg" border=0 width="65" height="100" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"><IMG SRC="0ec41640.jpg" border=0 width="65" height="100" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"><IMG SRC="0ed4f640.jpg" border=0 width="79" height="100" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"><IMG SRC="0ee64640.jpg" border=0 width="100" height="100" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"><IMG SRC="0ef4d640.jpg" border=0 width="77" height="100" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"></div> </td> </tr></table></body>