TY - JOUR
T1 - Edwards syndrome
T2 - Neurocognitive and linguistic profile, diagnosis, overlaps and treatment
AU - Katsarou, Dimitra V.
AU - Argyriadis, Alexandros
AU - Sofologi, Maria
AU - Argyriadi, Agathi
AU - Kougioumtzis, Georgios A.
AU - Megari, Kalliopi
AU - Mantsos, Evangelos
AU - Theodoratou, Maria
N1 - Publisher Copyright:
© ALUNA Publishing.
PY - 2025/7
Y1 - 2025/7
N2 - 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.
AB - 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.
KW - Edwards syndrome
KW - developmental delays
KW - linguistic impairment
KW - neurocognitive profile
KW - prenatal diagnosis
KW - therapeutic interventions
KW - trisomy 18
UR - https://www.scopus.com/pages/publications/105015751918
UR - https://www.scopus.com/pages/publications/105015751918#tab=citedBy
U2 - 10.36740/Merkur202504116
DO - 10.36740/Merkur202504116
M3 - Review article
C2 - 40929546
AN - SCOPUS:105015751918
SN - 1426-9686
VL - 53
SP - 540
EP - 545
JO - Polski Merkuriusz Lekarski
JF - Polski Merkuriusz Lekarski
IS - 4
ER -