The diagnostic journey of genetically defined neurodevelopmental disorders.

ABSTRACT:

Background

The development of advanced genetic technologies has resulted in rapid identification of genetic etiologies of neurodevelopmental disorders (NDDs) and has transformed the classification and diagnosis of various NDDs. However, diagnostic genetics has far outpaced our ability to provide timely medical counseling, guidance, and care for patients with genetically defined NDDs. These patients and their caregivers present with an unmet need for care coordination across multiple domains including medical, developmental, and psychiatric care and for educational resources and guidance from care professionals. After a genetic diagnosis is made, families also face several barriers in access to informed diagnostic evaluations and medical support.

Methods

As part of Care and R

SUBMITTER: Simon J 

PROVIDER: S-EPMC9059413 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature