Recent developments in Phelan-McDermid syndrome research: an update on cognitive development, communication and psychiatric disorders

Purpose of review The purpose of this review is to summarize the literature on cognitive development, communication, behavioral or psychiatric aspects in Phelan-McDermid syndrome (PMS) and to discuss the clinical implications and recommendations of these summarized findings. Recent findings PMS is often associated with severe communication impairments, behavioral or psychiatric problems and regression. These challenges may adversely affect and impair the quality of life of the individual with PMS and his family. Individuals with PMS experience intellectual disability, communication and behavioral/psychiatric challenges, such as catatonia, bipolar disorder and regression across the lifespan. Providing appropriate guidance and support to them and their families demands a better understanding of these challenges.

Automated summary

Individuals with Phelan-McDermid syndrome (PMS) often experience severe communication impairments, behavioral or psychiatric problems, and regression, which can adversely affect their quality of life and that of their families. Providing appropriate guidance and support to these individuals and their families requires a better understanding of these challenges.