Sleep Problems and Regression in Kleefstra Syndrome: What Research Tells Us

Based on research by Prof. Kleefstra and colleagues (2017)
Read the original paper here

Why this research matters

Some people with Kleefstra Syndrome (KS) experience regression – a loss of skills they had already learned. This can be devastating for families. Researchers noticed that in some cases, severe sleep problems happen before this regression, especially in teenagers and young adults.

This study looked at whether treating sleep problems more quickly and with stronger medication could help.

Sleep Regression

What the researchers did

The paper describes the clinical course of three young women who each experienced severe sleep disturbance and psychiatric symptoms and who subsequently developed regression. Symptoms included:

  • Severe sleep problems (staying awake for days, being very restless).
  • Psychiatric symptoms such as depression, hallucinations, or aggression.
  • Major regression – losing skills like speaking, reading, or dressing themselves.

What they found

  • At first, doctors gave low doses of medication (the usual approach for people with intellectual disability). This didn’t help.
  • When the women were treated with normal or higher doses of antipsychotic medication, their sleep improved quickly.
  • This also stopped further regression and, in some cases, allowed recovery of lost skills.

The take-home message

  • Sleep problems in KS can be a warning sign of serious psychiatric illness and regression.
  • Quick and strong treatment (rather than starting with very low doses) may help protect skills and quality of life.
  • More research is needed, but these case studies highlight the importance of acting fast when sleep problems and psychiatric symptoms appear.

What this means for families

If your child or adult with KS develops sudden, severe sleep disturbance, especially in adolescence or early adulthood:

  • Seek medical help quickly.
  • Share this research with doctors.
  • Early and effective treatment may make a big difference.

 

Clinician? Medical Professional? Researcher? Want to know more of the detail behind the report? Download a two-page summary here Sleep_Regression_Report.