Edwards syndrome: Neurocognitive and linguistic profile, diagnosis, overlaps and treatment

  • Dimitra V. Katsarou
  • , Alexandros Argyriadis
  • , Maria Sofologi
  • , Agathi Argyriadi
  • , Georgios A. Kougioumtzis
  • , Kalliopi Megari
  • , Evangelos Mantsos
  • , Maria Theodoratou

Research output: Contribution to journalReview articlepeer-review

Abstract

Aim: To provide a comprehensive understanding of the profound developmental and medical challenges associated with this condition. Materials and Methods: Τhis study employed a narrative review methodology, drawing upon a wide range of peer-reviewed scientific literature, clinical guidelines, and case studies. The reviewed materials were selected based on their relevance to the neurocognitive, linguistic, diagnostic, and therapeutic aspects of Edwards syndrome. Databases such as PubMed, Scopus, and Google Scholar were used, with key terms including „Edwards syndrome,” „trisomy 18,” „developmental delays,” „prenatal diagnosis,” and „palliative care.” Comparative analysis was conducted to explore clinical overlaps with related syndromes such as trisomy 13 and Turner syndrome. Conclusions: Edwards syndrome presents significant challenges, requiring early diagnosis and multidisciplinary care to improve quality of life. Comprehensive understanding and tailored interventions can foster better outcomes and enhance family support systems.

Original languageEnglish
Pages (from-to)540-545
Number of pages6
JournalPolski Merkuriusz Lekarski
Volume53
Issue number4
DOIs
Publication statusPublished - Jul 2025
Externally publishedYes

Keywords

  • Edwards syndrome
  • developmental delays
  • linguistic impairment
  • neurocognitive profile
  • prenatal diagnosis
  • therapeutic interventions
  • trisomy 18

ASJC Scopus subject areas

  • General Medicine

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