Rett Syndrome

Rett syndrome is usually diagnosed based on your child's symptoms, and by ruling out other more common disorders.

A diagnosis of Rett syndrome may not be madefor a number of years because the syndrome is so rare and symptoms don't tend to appear until a child is between six and 18 months old.

A genetic blood test can be used to identify the genetic mutation responsible forRett syndrome (although it isn't found in every child with the syndrome). If a change is found in theMECP2 gene, it can help confirm the diagnosis, but failing to find it doesn't necessarily rule out the syndrome.

Your child may benefit from some of the following treatments and aids:

• speech and language therapy, picture boards, eye gaze technology and other visual aids to help with communication
• medication for breathing and mobility problems, and anti-epileptic medicine to control seizures
• physiotherapy , attention to mobility, careful attention to your child's sitting posture (to minimize the chances of scoliosis developing), and frequent changes in posture
• if scoliosis does become established, aback brace and sometimes spinal surgery may be used to prevent the spine curving further (read more about treating scoliosis )
• a high-calorie diet to help maintain sufficient weight, with the use of a feeding tube and other feeding aids if necessary
• occupational therapy to help develop the skills needed for dressing, feeding and other daily activities
• an ankle-foot orthosis (lower leg brace) to help them walk independently
• ahand splint to helpcontrol hand movements, if these are severe (they're mainly used for limited periods to prevent self-injury or to encourage activities with the other hand)
• beta-blocker medication or a pacemaker to control their heart rhythm

Therapeutic horse riding, swimming , hydrotherapy and music therapy have also been reported to be beneficial. Ask your healthcare team where you can access these therapies.

Most carers will need social and psychological support.

Your guide to care and support provides lots of information and advice abouthow you can take time to look after yourself, including:

• keeping fit and healthy
• getting a break from caring
• getting legal support and advocacy
• taking care of your wellbeing

You may also find it useful to contact a support group, such as Rett UK , for information and advice about looking after a child with the syndrome.