Genetic Counseling in Neurodevelopmental Disorders

Abstract

Neurodevelopmental disorders (NDDs), including global developmental delay (GDD), intellectual disability (ID), and autism spectrum disorder (ASD), represent a continuum of developmental brain dysfunction. Although the etiology of NDD is heterogeneous, genetic variation represents the largest contribution, strongly supporting the recommendation for genetic evaluation in individuals with GDD/ID and ASD. Technological advances now allow for a specific genetic diagnosis to be identified in a substantial portion of affected individuals. This information has important ramifications for treatment, prognosis, and recurrence risk, as well as psychological and social benefits for the family. Genetic counseling is a vital service to enable patients and their families to understand and adapt to the genetic contribution to NDDs. As the demand for genetic evaluation for NDDs increases, genetic counselors will have a predominant role in the ongoing evaluation of NDDs, especially as identification of genetic etiologies has the potential to lead to targeted treatments for NDDs in the future.

Best Practices in Structural Neuroimaging of Neurodevelopmental Disorders

“…Certainly, several challenges remain in improving prevention and treatment of these disorders. First, the etiology of neurodevelopmental disorders is still largely unknown, but likely comprises a mix of factors ranging from genetics (Blesson & Cohen, 2020) to epigenetics and environmental influences (Nigg, 2012). Moreover, to date, neurodevelopmental disorders are phenomenologically defined and diagnosed by clinical observations and reports from the child and caregivers.…”

Intellectual disability, the long way from genes to biological mechanisms

“…These are impressive advancements that have important ramifications for both treatment and prognosis. A specific diagnosis also provides both psychological and social benefits for the family [10] , including information about the risk of recurrence in future pregnancies and the options of prenatal diagnosis and pre-implantation genetic testing. As of December 2019, on the Online Mendelian Inheritance in Man website (OMIM, https://omim.org/), there are more than 1300 single genes associated with ID, highlighting the complexities of brain development and the consequent, extreme genetic heterogeneity of ID.…”

Best practices in clinical developmental structural neuroimaging

“…First, the etiology of neurodevelopmental disorders is still largely unknown, but likely comprises a mix of factors ranging from genetics (Blesson & Cohen, 2020) to epigenetics and environmental influences (Nigg, 2012). Moreover, to date, neurodevelopmental disorders are phenomenologically defined and diagnosed by clinical observations and reports from the child and caregivers.…”