No formal criteria exist within the diagnosis of DSDD to define either regression or autistic-like behavioral regression however, some groups have used the Diagnostic and Statistical Manual of Mental Disorders criteria of autism spectrum disorder to aid in standardization of phenotypic description for the latter phenomenon. 4, 5 A defining feature of DSDD is regression of previously attained skills, notably in the domains of language, communication, and social skills. The demographic profile of DSDD includes a postpubertal onset and an elevated female/male patient ratio of 2:1. Our focus for this review is to summarize the current knowledge of clinical features, potential etiologies, neurodiagnostic workup, and therapeutic options and to identify future areas of focus and research in this field. ![]() The etiology, pathophysiology, and therapeutic options for DSDD are currently unclear, although clinical data are rapidly emerging. 4 It is, therefore, key for all providers to be aware of DSDD to evaluate and potentially treat this condition. DSDD can be severe, with implications on both quality of life and the autonomy of persons with DS. 4, 5 This condition has been more recently referred to as Down syndrome disintegrative disorder (DSDD). 1– 3 In recent years, multiple centers have reported a specific pattern of developmental regression in individuals with DS, wherein patients lose language, behavioral, and cognitive skills that they previously acquired. ![]() In this article, we review the current data regarding clinical phenotypes, differential diagnosis, neurodiagnostic workup, and potential therapeutic options for this unique, most disturbing, and infrequently reported disorder.ĭown syndrome (DS) is the most common cause of intellectual disability worldwide and occurs in ∼1 in 800 live births it is most frequently caused by trisomy of chromosome 21 due to nondisjunction or translocation events. Both psychiatric therapy and immunotherapies have been described as DSDD treatments, with both revealing potential benefit in limited cohorts. The etiology of DSDD is unknown, but in several hypotheses for regression in this population, psychological stress, primary psychiatric disease, and autoimmunity are proposed as potential causes of DSDD. No strict criteria or definitive testing is currently available to diagnose DSDD, although a comprehensive psychosocial and medical evaluation is warranted for individuals presenting with such symptoms. The acute phase is followed by a chronic phase in which baseline functioning may not return. ![]() This condition has a subacute onset and can include symptoms of mood lability, decreased participation in activities of daily living, new-onset insomnia, social withdrawal, autistic-like regression, mutism, and catatonia. Initially reported in 1946 as “catatonic psychosis,” there has been an increasing interest among the DS community, primary care, and subspecialty providers in this clinical area over the past decade. Down syndrome disintegrative disorder (DSDD), a developmental regression in children with Down syndrome (DS), is a clinical entity that is characterized by a loss of previously acquired adaptive, cognitive, and social functioning in persons with DS usually in adolescence to early adulthood.
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