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Down Syndrome Disintegrative Disorder: a Clinical Regression Syndrome of Increasing Importance Mattia Rosso, MD,A Ellen Fremion, MD,B Stephanie L

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Down Syndrome Disintegrative Disorder: a Clinical Regression Syndrome of Increasing Importance Mattia Rosso, MD,A Ellen Fremion, MD,B Stephanie L Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance Mattia Rosso, MD,a Ellen Fremion, MD,b Stephanie L. Santoro, MD,c,d Nicolas M. Oreskovic, MD, MPH,c Tanuja Chitnis, MD,a Brian G. Skotko, MD, MPP,c,d Jonathan D. Santoro, MDe,f Down syndrome disintegrative disorder (DSDD), a developmental regression abstract 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. Initially reported in 1946 as “catatonic psychosis,” there has been an increasing interest among aAnn Romney Center for Neurologic Diseases, Harvard the DS community, primary care, and subspecialty providers in this clinical Medical School, Harvard University and Brigham and area over the past decade. This condition has a subacute onset and can Women’s Hospital, Boston, Massachusetts; bInternal Medicine-Pediatrics Program, Baylor College of Medicine, include symptoms of mood lability, decreased participation in activities of Houston, Texas; cDivision of Medical Genetics and daily living, new-onset insomnia, social withdrawal, autistic-like regression, Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts; dDepartment of mutism, and catatonia. The acute phase is followed by a chronic phase in Pediatrics, Harvard Medical School, Harvard University, which baseline functioning may not return. No strict criteria or definitive Boston, Massachusetts; eDepartment of Neurology, Children’s Hospital Los Angeles, Los Angeles, California; and testing is currently available to diagnose DSDD, although a comprehensive fKeck School of Medicine, University of Southern California, psychosocial and medical evaluation is warranted for individuals presenting Los Angeles, California with such symptoms. The etiology of DSDD is unknown, but in several Drs Rosso and J.D. Santoro conceptualized and hypotheses for regression in this population, psychological stress, primary designed the structure of the review, drafted the psychiatric disease, and autoimmunity are proposed as potential causes of manuscript, and revised the manuscript; Drs Fremion, S.L. Santoro, and Skotko drafted the DSDD. Both psychiatric therapy and immunotherapies have been described as manuscript and revised the manuscript for DSDD treatments, with both revealing potential benefit in limited cohorts. In intellectual content; Drs Oreskovic and Chitnis this article, we review the current data regarding clinical phenotypes, critically reviewed and revised the manuscript for differential diagnosis, neurodiagnostic workup, and potential therapeutic important intellectual content; and all authors approved the final manuscript as submitted and options for this unique, most disturbing, and infrequently reported disorder. agree to be accountable for all aspects of the work. DOI: https://doi.org/10.1542/peds.2019-2939 Accepted for publication Nov 13, 2019 Down syndrome (DS) is the most implications on both quality of life Address correspondence to Jonathan D. Santoro, ’ common cause of intellectual disability and the autonomy of persons with MD, Department of Neurology, Childrens Hospital Los Angeles, 4650 Sunset Blvd, Mail Stop 82, Los Angeles, ∼ 4 worldwide and occurs in 1 in 800 DS. It is, therefore, key for all CA 90027. E-mail: [email protected] live births; it is most frequently caused providers to be aware of DSDD to PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, by trisomy of chromosome 21 due to evaluate and potentially treat this 1098-4275). nondisjunction or translocation condition. The etiology, Copyright © 2020 by the American Academy of 1–3 events. In recent years, multiple pathophysiology, and therapeutic Pediatrics fi centers have reported a speci c options for DSDD are currently unclear, FINANCIAL DISCLOSURE: The authors have indicated pattern of developmental regression although clinical data are rapidly they have no financial relationships relevant to this in individuals with DS, wherein emerging. Our focus for this review is article to disclose. patients lose language, behavioral, to summarize the current knowledge of FUNDING: No external funding. and cognitive skills that they previously clinical features, potential etiologies, 4,5 acquired. This condition has been neurodiagnostic workup, and To cite: Rosso M, Fremion E, Santoro SL, et al. more recently referred to as Down therapeutic options and to identify Down Syndrome Disintegrative Disorder: A syndrome disintegrative disorder future areas of focus and research in Clinical Regression Syndrome of Increasing Importance. Pediatrics. 2019;145(6):e20192939 (DSDD). DSDD can be severe, with this field. Downloaded from www.aappublications.org/news by guest on September 30, 2021 PEDIATRICS Volume 145, number 6, June 2019:e20192939 STATE-OF-THE-ART REVIEW ARTICLE HISTORICAL REPORTS TABLE 1 Characteristics of DSDD In 1946, Rollin6 described a cohort of Criterion Features 73 institutionalized adolescents and I Autistic regression young adults with DS, 17 (23.3%) of II Cognitive decline resulting in a dementia-like state whom were diagnosed with III Older age at onset than at autistic regression IV No other diagnosis that may explain the condition “catatonic psychosis.” These individuals had an appropriate Adapted from Worley G, Crissman BG, Cadogan E, Milleson C, Adkins DW, Kishnani PS. Down syndrome disintegrative disorder: new-onset autistic regression, dementia, and insomnia in older children and adolescents with Down syndrome. developmental period followed by J Child Neurol. 2015;30(9):1147–1152. behavioral changes, including agitation and harm directed toward self and others, during early Statistical Manual of Mental Disorders also reported and include depression adolescence (ages 11–14) that led criteria of autism spectrum disorder (42%), social withdrawal (34%), and 5,12,13 their families to seek institutional to aid in standardization of anxiety (16%). In recent phenotypic description for the latter studies, catatonia was observed in care. Afterward, they experienced 4,9 a deterioration phase marked by phenomenon. Diagnosis by using 47% of cases labeled as DSDD, which incontinence, mutism, apathy, social these guidelines involves new-onset is higher than rates originally 6 5,11,12 withdrawal, occasional behavioral impairments in social interaction; reported by Rollin (38%). outbursts, and psychosis, eventually communication; stereotyped patterns New-onset insomnia was also 4,5,7,11,12 leading to catatonia. of movement, behavior, and thought; described in 43% of cases. and developmental delays.9 At Pooled estimates from 4 studies In 2000, Kerbeshian and Burd7 baseline, autism can be present in revealed a 14% rate of psychotic provided a clinical description of roughly 15% of children with DS; symptoms, including delusions and autistic-like regression in a child with however, a previous diagnosis of hallucinations, in persons with DS. In this study, the authors autism was not observed in any of the DSDD.4,5,11,12 Aggressive behavior described an 8-year-old girl with DS studies reviewed in this report.10 was reported in 42% of who experienced autistic regression DSDD is an entity that is believed to patients.2,5,11,13 As was highlighted by (loss of social and communication be distinct and separate from autism Mircher et al,5 aggression in persons skills), loss of cognitive functions, and spectrum disorder. with DSDD may be directed toward a rapid-onset insomnia, referring to self (auto-aggression) or others this condition as autistic-like Beyond regression, symptoms of (hetero-aggression). A minority of regression.7 Subsequently, in 2015, DSDD can be heterogenous and are patients with DSDD (12%) also had 4 Worley et al presented similar case reported with variability (Table 2). In anorexia as part of their clinical reports and characterized DSDD as 3 large studies, up to 87% of patients presentation.11,12 a subacute onset of “autistic with DSDD were diagnosed with regression,” cognitive decline language regression, with symptoms Because there are no diagnostic resulting in a dementia-like state, ranging in severity from dysfluency to criteria available, DSDD is best occurring at an older age typical for mutism.5,11,12 Among patients in described as a clinical syndrome that autistic regression, and no other whom severity of language regression should be considered in adolescents established diagnosis to explain the was quantified, 38% had partial and young adults with DS and condition (Table 1).8 language regression and 52% had subacute-onset behavioral mutism.5,11,12 Mood symptoms are changes.13 It is also key to appreciate CLINICAL MANIFESTATIONS TABLE 2 Clinical Features Reported in DSDD fi The demographic pro le of DSDD Clinical Feature %(n/N) includes a postpubertal onset and an Language regression5,11,12 87 (42/48) elevated female/male patient ratio of Partial 38 (18/48) 4,5 2:1. Adefining feature of DSDD is Mutism 52 (25/48) regression of previously attained Catatonia2,5,11,12 47 (25/53) skills, notably in the domains of Mood symptoms2,5,12,13 language, communication, and social Depression 42 (21/50) Social withdrawal 34 (15/44) skills. No formal criteria exist within Anxiety 16 (8/50) the diagnosis of DSDD to define either Insomnia4,5,11,12 43 (25/58) regression or autistic-like behavioral Aggression2,5,11,13 42 (17/40) regression; however, some groups Delusions or hallucinations4,5,11 14 (8/56) 11,12 have used
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