Rett Syndrome and Cognitive Deficits: An Insight

General Symptoms of Rett Syndrome

Individuals with Rett Syndrome often use eye gaze to communicate.

Rett syndrome is a genetic developmental disorder that mostly affects females. An infant born with Rett syndrome experiences a regression in their development during late infancy. The child loses hand control, unlearns the ability to speak, and engages in stereotypical hand movements, such as wringing, tapping or mouthing. Children with Rett syndrome remain intellectually disabled for the rest of their lives. In late adulthood, many also suffer from physical problems, such as muscle weakness, rigidness and spine curving.

Rett Syndrome and Cognitive Deficits

Individuals with Rett syndrome who have passed the regression stage show a stable cognitive profile. Their cognitive level is usually equal to the age when the regression started. As a rare disability, it’s difficult to get participants for studies, so most research has focused on creating mouse models of Rett syndrome. Nevertheless, we do have some preliminary information on specific cognitive deficits of this disorder:

  • Individuals with Rett syndrome do not use speech or sign language. Instead, they may use primitive vocalizations or single words. They primarily communicate nonverbally by using eye gaze, pointing or reaching; however, they spontaneously show these behaviors less often than typically developing infants matched for intellectual age.
  • These individuals can only understand simplified language. They respond to simple instructions and commands, but they do not comprehend abstract concepts.
  • During a task, individuals with Rett syndrome have difficulty focusing on important information. In fact, they often pay attention to unimportant information. This could partly be due to their devoting attention to stereotypical hand movements.
  • Individuals with Rett syndrome often become confused if an object is concealed, moved out of view or dropped out of eyesight. They have not developed an understanding of object permanence and therefore don't realize that objects continue to exist, even if they are hidden from view.
  • Sometimes, people who are diagnosed with Retts also suffer from epileptic seizures. Individuals who start having seizures earlier in their lives and those who have more frequent seizures have lower cognitive abilities. These individuals have more difficulty responding to verbal instructions and recognizing emotions in others.

Rett Syndrome and Cognitive Deficits: Treating the Deficits

Cognitive therapies for individuals with Rett syndrome focus on communication. Speech-language therapists can help develop ways for these individuals to effectively communicate with their families. Family members learn to recognize the individual’s intentions to communicate (which can often be subtle) and to respond in an understandable way.

Individuals with Rett syndrome can usually learn to communicate through a number of different methods:

  • Alternating gaze between a person and a target object.
  • Using pictures or photographs of items.
  • Pointing or gesturing.
  • Changing facial expressions.
  • Activating switches on toys.
  • Pressing buttons on a computer.

When learning specific tasks during therapy sessions, families can help focus the individual’s attention by hugging or gently holding their hands to minimize stereotypical movements. It’s also easier for these individuals to stay focused when there are fewer distractions in the room.

References

  • Acker, Rick. “Rett Syndrome: A Review of Current Knowledge.” Journal of Autism and Developmental Disorders. 1991.
  • Fabio, Rosa Angela, et al. “Attention and Communication in Rett Syndrome.” Research in Autism Spectrum Disorders. 2009.
  • Vignoli, Aglala, et a. "Correlations Between Neuropsychological, Behavioral, and Cognitive Function in Rett Syndrome." Epilepsy & Behavior, 2010.
  • Image Credit: taylorschlades, https://mrg.bz/gEEoBb