Clinical

Syndromes: Rett syndrome

A series about conditions with common symptoms that constitute syndromes

A series about conditions with common symptoms that constitute syndromes


Rett syndrome is almost exclusively reported in girls and leads to profound or
severe developmental disabilities. Picture: Alamy

Rett syndrome is a neurodevelopmental disorder which, in most cases, is caused by mutations in the X-linked gene MECP2 (Amir et al 1999). The syndrome is almost exclusively reported in girls and leads to severe or profound developmental disabilities and premature death aged 12 to 40 years (Akbarian and Worcester 2002, Neul et al 2010).

The syndrome has been reported in boys (Reichow et al 2015), then described as MECP2-related severe neonatal encephalopathy. However, most males die in utero or shortly after birth. The prevalence of Rett syndrome for girls is, including prevalence numbers for the UK, about one per 10,000-15,000 births (Leonard et al 1997, Fombonne et al 2003).

Girls with the syndrome have normal growth and development until six to 18 months of age. In some cases, mild hypotonia has been reported in infants before onset (Neul et al 2010). Thereafter, the syndrome develops in four stages:

Characteristic stages

  • Early onset deceleration occurs at six to 18 months and is characterised by: developmental stagnation reduced head growth, a reduced interest in activities and play, and hypotonia.
  • The rapid destructive stage occurs between one and three years and is characterised by: developmental regression, irritability, loss of purposeful hand movements, stereotypical hand movements, such as washing, hand-mouthing and clapping, seizures, sleeping problems, loss of receptive-and expressive language, and self-injurious behaviour.
  • The pseudo-stationary stage, occurs between two and ten years of age and is characterised by: severe/profound developmental disabilities, ataxia (reduced muscle coordination), apraxia (difficulties planning and performing tasks), spasticity, hyperventilation, apnoea during wakefulness, scoliosis and bruxism (teeth grinding).
  • The late motor deterioration stage occurs after the age of ten and is characterised by: decreased mobility, growth stagnation, improvement in social contact, eye gazing, trophic feet disturbances caused by changes in the connective tissue and muscles due to disruptions to the nerve supply, and a reduction in seizures.

Due to the severity of the disabilities, people with Rett syndrome require lifelong support (Byiers et al 2014). There are no treatments available and measures should aim at optimising abilities. Multidisciplinary teams are necessary to provide the services needed. Interventions have been recommended to increase adaptive behaviour and to reduce problematic behaviours (Wanzek et al 2011).

Case study

Vanessa, not her real name, the only participant in Sullivan et al (1995) was diagnosed at three and a half years old and attended a regional centre for severely disabled children. She had received early intervention from 18 months of age, but there had been little progression. Her social interests and adaptive behaviour were limited. Vanessa showed no interest in her surroundings, she had no purposeful hand movements and she had frequent seizures.

A data-based behavioural training programme using switches and toys as learning tools was developed. During the 12-month intervention, two electrical switches were available. Both were positioned so that Vanessa’s spontaneous movements could activate them – one switch was placed behind her head and the other was placed on a tray within her reach. Pressing the switches would indicate the music that she preferred or give her access to her toys.

Vanessa rapidly mastered the head switch. Hand responses also occurred, but with less frequency. After six months Vanessa showed positive emotions, such as smiling and laughter, when she was given the opportunity to press the switches. After 12 months Vanessa could play independently with a toy piano.

Further information

References


Rolf Magnus Grung is assistant professor at Oslo Metropolitan University, Norway

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