Holoprosencephaly from conception to adulthood

Area of Science:

• Developmental Biology
• Pediatric Neurology
• Clinical Genetics

Background:

• Holoprosencephaly (HPE) is a congenital brain malformation characterized by the incomplete separation of the forebrain.
• Clinical presentation and outcomes in HPE exhibit significant variability, influenced by the specific subtype identified through neuroimaging.
• While early mortality is frequent, a notable proportion of individuals with HPE survive into childhood and adulthood, necessitating long-term care.

Purpose of the Study:

• To provide a comprehensive overview of the clinical management of Holoprosencephaly (HPE).
• To address the evolving needs of HPE patients across different life stages, from prenatal diagnosis to adulthood.

Main Methods:

• Literature review focusing on clinical management protocols for Holoprosencephaly (HPE).
• Synthesis of information regarding diagnostic approaches and therapeutic interventions.
• Discussion of age-specific challenges and management strategies in HPE.

Main Results:

• Clinical management of HPE requires a multidisciplinary approach tailored to the specific subtype and patient age.
• Prenatal diagnosis allows for early planning and intervention.
• Long-term care in childhood and adulthood focuses on managing associated medical, developmental, and psychosocial issues.

Conclusions:

• Effective clinical management of Holoprosencephaly (HPE) spans the entire lifespan, from prenatal assessment to adult care.
• Understanding the spectrum of HPE and its associated complexities is crucial for optimizing patient outcomes and quality of life.