New definition of unexplained regression in Down syndrome proposed

Summary: To address the challenges of diagnosing and managing URDS, a working group was created within the Down Syndrome Medical Interest Group (DSMIG-USA), which, in turn, generated a definition that includes 28 core and common clinical features of URDS. Researchers created a database that included both patients with unexplained regression and matched controls. Standardized data on clinical symptoms and tiered medical evaluations were collected, and a total of 35 patients with DS and unexplained regression were identified, with a mean age at regression of 17.5 years. Cases of URDS were compared with age- and sex-matched controls for clinical features, depression and stressor screens, and medical evaluations. Study results showed that diagnostic features between the 2 cohorts differed substantially. One of the key takeaways of this work is that patients with URDS have many more stressors, depressive symptoms, and mental health concerns than those without. “On the clinical side, I am [now] more attuned to stressors for my patients, and more apt to refer to psychiatry, psychology, or neuropsychology when there appears to be a co-occurring mental health condition,” says Dr. Santoro. “Although we can't be certain without knowing the interplay/mechanism for URDS, it seems prudent to take steps to minimize and treat these factors for all of our patients with Down syndrome. One of the key takeaways of this work is that patients with URDS have many more stressors, depressive symptoms, and mental health concerns than those without. “On the clinical side, I am [now] more attuned to stressors for my patients, and more apt to refer to psychiatry, psychology, or neuropsychology when there appears to be a co-occurring mental health condition,” says Dr. Santoro. “Although we can't be certain without knowing the interplay/mechanism for URDS, it seems prudent to take steps to minimize and treat these factors for all of our patients with Down syndrome.
Source: American Journal of Medical Genetics, 12 February 2020, 182A(3), 421-422. https://doi.org/10.1002/ajmg.a.61226 Abstract unavailable - select text extracted
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