Management Guidelines
No clinical practice guidelines for DCX-related disorders have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder. Note: The clinical spectrum observed in individuals with DCX pathogenic variants is extremely broad, from rare, very severely affected males with limited life expectancy to healthy females with a heterozygous or mosaic pathogenic DCX variant who may never develop any clinical features of a DCX-related disorder. Therefore, the information provided in the management section aims to address any clinical issues that may arise, and hence the more severely affected individuals within this clinical spectrum.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with a DCX-related disorder, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 4.
DCX-Related Disorders: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Neurologic
| Neurologic eval | • At initial diagnosis at least annually thereafter, esp for mgmt of epilepsy that should include an epilepsy specialist
Prolonged video EEGs may be required to fully characterize epilepsy burden or spells of unclear clinical etiology
To incl early brain imaging to characterize assess brain malformation
Constitutional
| Measurements of OFC, length/height, ...
Source: GeneReviews — "DCX-Related Disorders"
