Objective:

This systematic review aims to consolidate findings on the genetic prevalence underpinnings of
Aicardi Syndrome and its outcome.

Background:

Aicardi Syndrome (AS) is a rare congenital disorder with its exclusive occurrence in females or
males with Klinefelter syndrome highlights the possibility of lethal mutations in male embryos.

Design/Methods:

A comprehensive literature search was conducted using databases such as PubMed, Scopus, and EMBASE on October 8, 2024. Search terms included "Aicardi Syndrome," "genetics," "X-linked inheritance," and "mutations." Inclusion criteria encompassed studies reporting on genetic mutations, chromosomal abnormalities, or inheritance patterns in Aicardi syndrome patients. The quality of included studies was assessed using the Newcastle-Ottawa Scale (NOS), and data were extracted concerning study design, patient characteristics, genetic findings, and clinical outcomes.

Results:

Four studies met the inclusion criteria, encompassing 121 patients with Aicardi syndrome.
Genetic analyses did not identify a consistent causative mutation, but several cases showed
mutations or deletions on the X chromosome, particularly in neural development genes. Some
studies suggested that mosaicism in the X chromosome may contribute to the syndrome's diverse
clinical presentations due to somatic mutations occurring post-fertilization. Prognosis varies
significantly, with survival rates influenced by the severity of neurological symptoms, leading to
developmental delays, seizure disorders, and reduced life expectancy. According to NOS,
included studies were of low risk of bias.

Conclusions:

Aicardi syndrome remains genetically heterogeneous, with no single gene mutation consistently
identified. Future studies with advanced genomic technologies are needed to better understand
the genetic contributions to Aicardi syndrome, potentially leading to improved diagnostic and
therapeutic strategies.