Rett syndrome is a rare inherited neurodevelopmental disease originally described by Andreas Rett in 1966, which occurs mostly in girls [1] and causes developmental and nervous system problems. Genetically, Rett syndrome results from mutations in the genes encoding methyl-cytosine-guanosine (CpG) binding protein 2 (MECP2) located on the X chromosome. In less than 10% of RTT cases, mutations in the genes CDKL5 or FOXG1 have also been found to resemble it [2]. Affected individuals have clinical features that overlap with autism. Infants with Rett syndrome seem to grow and develop normally in the early months. However, between 6 and 18 months and 3 years of age development stagnates and they begin to lose previously attained skills.

Symptoms include

• loss of speech (partial or complete)
• loss of purposeful hand movements such as grasping (partial or complete)
• stereotypic hand movements such as hand wringing or hand-washing
• balance problems (ataxia/apraxia of gait)
• breathing problems (periodic breathing with hyperventilation and breath holding)
• behaviour problems (particularly anxiety, self-abusive or aggressive)
• intellectual disability

The clinical criteria for the diagnosis of classic Rett syndrome were developed initially in the 1980s and recently updated in 2010. These criteria include an apparently normal pre- or perinatal period and first 6 months of life. Over the following months, there is a loss of developmental skills, which progresses to severe mental retardation and characteristic hand-wringing movements [3,4]. Other features include autistic-like behaviours, oral-motor dysfunctions, gastrointestinal motility disorders (including abdominal bloating), scoliosis, autonomic dysfunction and somatic developmental impairment [5]. Various movement disorders are exhibited including dystonia, choreoathetosis and myoclonic jerks. [6,7]

Rett syndrome has no cure. We can treat some of the symptoms with medication, surgery, and physical, occupational and speech therapy. Most people with RS live into middle age and beyond. They will usually need care throughout their lives.