A to Z of syndromes

A-Z of syndromes: Rett syndrome

How to recognise and support children who have this rare developmental and neurological disorder

How to recognise and support children who have this rare developmental and neurological disorder

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A rare genetic, developmental and neurological disorder that affects brain development, Rett syndrome was first identified in 1966 by Austrian geneticist Andreas Rett. The syndrome can result in severe mental and physical disability. It is rarely seen in males, but when it does occur it is a serious condition. It has been estimated to affect about one in 12,000 girls.

There is usually no family history and neither of the parents are carriers. Most children with the syndrome will have acquired it because of a spontaneous mutation that changed the DNA of a gene present on the X chromosome. The changes on the MECP2 gene alters the instructions for producing a specific protein which is vital for brain development.

There is no cure for Rett syndrome. Diagnosis can be delayed because it is rare and the symptoms do not appear until the child is between six to 18 months old. Early misdiagnosis is common as some of the initial signs can resemble autism. The syndrome is normally described in four stages.

Stage one

The child will have appeared to have grown and developed normally until their development stagnates or arrests. The symptoms may include feeding difficulties, mobility problems with sitting, rolling, crawling and walking. There may be hypotonia and a chorea where unusual, repetitive, jerky hand and limb movements can be seen. Speech can be delayed and the child may seem to lack interest in toys, stimulation and people.

Stage two

Regression can be rapid as the child starts to lose some of their abilities. This stage is usually seen from the age of one to four years old. Severe communication, language problems and cognitive impairment will develop. Some of the characteristics and behaviours resemble the autistic spectrum. The ability for intentional hand action is impaired and the repetitive hand movements are difficult to control. The child might experience periods of distress, irritability and sometimes screaming for no obvious reason.

Stage three

The child’s condition can plateau and some will remain in this stage for most of their lives. They may appear more sociable and be more interested in play, people and their surroundings. However, dental problems can arise because of teeth grinding and maintaining an ideal weight can be difficult. Seizures may develop problems with breathing can get worse and some develop cardiac arrhythmia. 

Stage four

This is often associated with deterioration in movement. New problems can arise with the development of scoliosis and muscle weakness can contribute to the loss of independent walking.   

Diagnosis is established by a blood test which can identify a mutation of the MECP2 gene – the most common cause. However, as the syndrome does have variants and a negative test does not mean the child does not have Retts, atypical presentations do exist and the diagnosis will be made on history, presenting signs and symptoms, and by excluding other causes.

Case study

Mazzie was adopted when she was 12 weeks old. Her early development was unremarkable and she met all her milestones in the first 18 months. 

She loved being read to and looking at picture books. The family were bemused when she slowly lost the ability to turn the pages. Her body movements and tone deteriorated so she could not sit on her own and her behaviour changed from a happy, contented child, to one who had unexplained spells of screaming and disliked being handled.

Specialists eventually diagnosed her at age two. When she was five she had her first fit and she started to lose weight so a gastrostomy was inserted.

From diagnosis a comprehensive care plan was put in place and she had physiotherapy to improve balance and mobility and prevent stiffness and contractures. Speech and language therapy was successful in developing her communication abilities and electronic augmentations were tried. One of Mazzie’s favourites is an eye-tracking device and the family are often awakened in the night when she decides to use this to play computer games.



Doreen Crawford is a nurse adviser with consultancy Crawford McKenzie

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