Rett Syndrome
Rett Syndrome is a rare genetic disorder that predominantly affects females. It is characterised by a gradual decline in motor skills, slowed growth, and a loss of communicative abilities and other acquired skills after a period of seemingly normal development. Rett Syndrome results from mutations in the MECP2 gene, although other gene mutations have also been identified as causes in a small percentage of cases.
The symptoms of Rett Syndrome can start to emerge from about 6 months onwards, often becoming more pronounced between 12-18 months. Some of the key symptoms include:
- Loss of purposeful hand skills: Children with Rett Syndrome often lose their ability to perform previously acquired hand movements, such as grasping objects or using utensils.
- Regression of acquired skills: Individuals with Rett Syndrome experience a regression in their overall development, including the loss of speech and social engagement. They may also exhibit a decline in motor skills.
- Breathing abnormalities: Many individuals with Rett Syndrome develop irregular breathing patterns, such as hyperventilation, breath-holding episodes, or apnea during sleep.
- Motor difficulties: People with Rett Syndrome often have difficulties with coordination and gait, as well as repetitive movements such as hand-wringing or hand-flapping.
- Intellectual disability: Rett Syndrome is associated with varying degrees of intellectual disability, ranging from mild to severe.
While ASD may sometimes involve a degree of regression of acquired skills (such as language and social engagement), in Rett Syndrome the regression is typically more severe and rapid. Rett Syndrome is much rarer than ASD and predominantly affects females, whereas studies show that ASD tends to more commonly diagnosed in males. Furthermore, Rett Syndrome is primarily caused by a single gene mutation, whereas autism is a complex neurodevelopmental disorder with multiple genetic and epigenetic factors involved.
Rett Syndrome is diagnosed through genetic testing and clinical observations and evaluations. While there is currently no cure for Rett Syndrome, treatment and intervention strategies focus on managing symptoms and improving the individual’s quality of life. The management of Rett Syndrome often involves a multidisciplinary approach, which can include some or all of the following professional: paediatricians, neurologists, physiotherapists, occupational therapists, speech & language therapists, and behavioural therapists. Additionally, behavioural interventions and educational support are often implemented to help develop the social skills and cognitive abilities of individuals with Rett Syndrome. Medications may also be used as part of the treatment plan.
Reference
Liyanage, V. R. B. & Rastegar, M. (2014). Rett Syndrome and MeCP2. Neuromolecular Medicine, 16(2), 231–264. doi:10.1007/s12017-014-8295-9
