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

Curr Opin Psychiatry. 2021 Mar 1;34(2):118-122. doi: 10.1097/YCO.0000000000000672.

Abstract

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.

Summary: 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.

Publication types

  • Review

MeSH terms

  • Chromosome Deletion
  • Chromosome Disorders / complications*
  • Chromosome Disorders / psychology*
  • Chromosomes, Human, Pair 22
  • Cognition*
  • Communication*
  • Humans
  • Intellectual Disability / complications*
  • Intellectual Disability / psychology
  • Mental Disorders / complications*
  • Mental Disorders / psychology*
  • Phenotype
  • Quality of Life

Supplementary concepts

  • Telomeric 22q13 Monosomy Syndrome