Genetic etiologies and diagnostic methods for congenital ventriculomegaly and hydrocephalus: A scoping review
Caroline Aragón1, D'aviyan Robinson2, Megan Kocher3
1Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, Minnesota, USA.
Insights
Congenital hydrocephalus (CH) has numerous genetic causes, but diagnostic challenges persist. This review surveys known genetic factors and testing methods to improve patient care.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Congenital hydrocephalus (CH) is a critical neurological condition caused by cerebrospinal fluid imbalance.
- In utero diagnosis offers unclear prognoses, and current surgical treatments have high failure and mortality rates.
- Genetic variants and secondary insults complicate CH diagnosis and treatment.
Purpose of the Study:
- To provide a centralized summary of genetic causes of CH.
- To review current molecular testing methodologies for CH.
- To address the lack of updated information on CH genetic etiologies and diagnostics.
Main Methods:
- A scoping review was conducted following established methodologies (Arksey and O'Malley, JBI).
- The review protocol was registered on the Open Science Framework.
- Search and screening criteria were guided by the PRISMA-ScR extension for Scoping Reviews.
Main Results:
- A wide spectrum of genetic etiologies for CH was identified, from single-gene variants to multifactorial defects.
- Diagnostic challenges are compounded by evolving testing approaches.
- Existing literature predominantly comprises case reports, highlighting a need for cohort and mechanistic studies.
Conclusions:
- Further research involving CH patient cohorts and mechanistic studies is essential for novel gene discovery.
- Recognizing the phenotypic complexity of CH is crucial.
- Addressing research gaps can lead to evidence-based diagnostic guidelines and improved patient outcomes.
Background:
Congenital hydrocephalus (CH) is a life-threatening neurological condition that results from an imbalance in production, flow, or absorption of cerebrospinal fluid. Predicted outcomes from in utero diagnosis are frequently unclear. Moreover, conventional treatments consisting primarily of antenatal and postnatal surgeries are often unsuccessful, leading to high mortality rates. Causes of CH can range from secondary insults to germline pathogenic variants, complicating diagnostic processes and treatment outcomes. Currently, an updated summary of CH genetic etiologies in conjunction with clinical testing methodologies is lacking. This review addresses this need by generating a centralized survey of known genetic causes and available molecular tests for CH.
Methods:
The scoping review protocol was registered with the Open Science Framework and followed the Arksey and O'Malley framework and the Joanna Briggs Institute methodology. The Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) was utilized to define search guidelines and screening criteria.
Results:
Our survey revealed a high number of genetic etiologies associated with CH, ranging from single gene variants to multifactorial birth defects, and additionally uncovered diagnostic challenges that are further complicated by changes in testing approaches over the years. Furthermore, we discovered that most of the existing literature consists of case reports, underscoring the need for studies that utilize CH patient research cohorts as well as more mechanistic studies.
Conclusions:
The pursuit of such studies will facilitate novel gene discovery while recognizing phenotypic complexity. Addressing these research gaps could ultimately inform evidence-based diagnostic guidelines to improve patient care.
Related Concept Videos
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
01:21Aneurysm II: Clinical Manifestations and Diagnostic Studies
01:19Cerebral Edema l: Introduction
01:22Cerebral Edema ll: Pathophysiology