TABLE 1.

Reasons to add highly penetrant neurodevelopmental disorders to newborn screening

Provides equitable access to a diagnosis. Allows better preventives of associated medical issues such as seizures and hearing/vision impairment. Facilitates access to early intervention programs to build and maintain skills. Avoids a stressful and costly diagnostic odyssey. Prepares and empowers families to make more informed decisions and get support from other families with the rare disease. Informs family reproductive decision making. Catalyzes the development of novel treatments.