Lessons from two series by physicians and caregivers' self ‐reported data in DDX3X‐related disorders

We report two series of individuals with DDX3X variations from physicians and caregivers. Caregivers considered that the symptom attention-deficit/hyperactivity disorder were the most worrisome. Each of the two datasets provides complementary knowledge. AbstractIntroduction and MethodsWe report two series of individuals withDDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers.ResultsThese two series include several symptoms in common, with fairly similar distribution, which suggests that caregivers' data are close to physicians' data. For example, both series identified early childhood symptoms that were not previously described: feeding difficulties, mean walking age, and age at first words.DiscussionEach of the two datasets provides complementary knowledge. We confirmed that symptoms are similar to those in the literature and provides more details on feeding difficulties. Caregivers considered that the symptom attention-deficit/hyperactivity disorder were most worrisome. Both series also reported sleep disturbance. Recently, anxiety has been reported in individuals withDDX3X variants. We strongly suggest that attention-deficit/hyperactivity disorder, anxiety, and sleep disorders need to be treated.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research