Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome

Eur J Med Genet. 2023 May;66(5):104745. doi: 10.1016/j.ejmg.2023.104745. Epub 2023 Mar 5.


Phelan-McDermid syndrome is a genetic condition primarily caused by a deletion on the 22q13.3 region or a likely pathogenic/pathogenic variant of SHANK3. The main features comprise global developmental delay, marked impairment or absence of speech, and other clinical characteristics to a variable degree, such as hypotonia or psychiatric comorbidities. A set of clinical guidelines for health professionals covering relevant aspects of clinical management have been written by the European PMS Consortium, and consensus has been reached regarding final recommendations. In this work, attention is given to communication, language and speech impairments in PMS, and the findings from available literature are presented. Findings from the literature review reveal marked speech impairment in up to 88% of deletions and 70% of SHANK3 variants. Absence of speech is frequent and affects 50%-80% of the individuals with PMS. Communicative skills in the expressive domain other than spoken language remain understudied, but some studies offer data on non-verbal language or the use of alternative/augmentative communication support. Loss of language and other developmental skills is reported in around 40% of individuals, with variable course. Deletion size and possibly other clinical variables (e.g., conductive hearing problems, neurological issues, intellectual disability, etc.) are related to communicative and linguistic abilities. Recommendations include regular medical check-ups of hearing and the assessment of other factors influencing communication, thorough evaluation of preverbal and verbal communicative skills, early intervention, and support via alternative/augmentative communication systems.

Keywords: 22q13 deletion syndrome; Communication; Language; Phelan-McDermid syndrome; SHANK3; Speech.

MeSH terms

  • Chromosome Deletion
  • Chromosome Disorders* / genetics
  • Chromosome Disorders* / psychology
  • Chromosomes, Human, Pair 22 / genetics
  • Consensus
  • Humans
  • Phenotype
  • Speech Disorders / genetics
  • Speech*

Supplementary concepts

  • Telomeric 22q13 Monosomy Syndrome