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Alternative Diagnoses in the Work Up of Down Syndrome Regression Disorder.

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Title: Alternative Diagnoses in the Work Up of Down Syndrome Regression Disorder.
Authors: Santoro, Jonathan D., Khoshnood, Mellad M., Nguyen, Lina, Vogel, Benjamin N., Boyd, Natalie K., Paulsen, Kelli C., Rafii, Michael S.
Source: Journal of Autism & Developmental Disorders. Jun2025, Vol. 55 Issue 6, p2085-2091. 7p.
Subjects: Diagnosis of epilepsy, Celiac disease diagnosis, Diagnosis of Down syndrome, Diagnosis of autism, Cardiovascular disease diagnosis, Neurologic examination, Differential diagnosis, Down syndrome, Cardiovascular diseases, Autism, Premature infants, Retrospective studies, Descriptive statistics, Developmental disabilities, Epilepsy, Medical records, Acquisition of data, Cognition disorders, Asperger's syndrome, Celiac disease, Confidence intervals, Comparative studies, Cytokines, Catatonia, Specialty hospitals, Symptoms
Geographic Terms: California
Abstract: Purpose: Down Syndrome Regression Disorder (DSRD) is a diagnosis of exclusion. Psychiatric and neuroimmunologic etiologies have been proposed although the exact etiology remains unknown. This study sought to review non-DSRD diagnoses at a large quaternary medical center specializing in the diagnosis of DSRD and compare clinical characteristics between those diagnosed with DSRD and those with non-DSRD diagnoses. Methods: The authors performed a single-center retrospective, chart-based, review of referrals for developmental regression in individuals with Down syndrome. Results: Two hundred and sixty-six individuals were evaluated for DSRD and of these, 54 (20%) ultimately had alternative diagnoses. Individuals with DSRD were more likely to have shorter nadir to clinical symptoms (p = 0.01, 95% CI: 0.36–0.47) and have preceding triggers (p < 0.001, 95% CI: 1.13–1.43) compared to those with alternative diagnoses. Individuals with non-DSRD diagnoses were more likely to be born premature (p = 0.01, 95% CI: 0.51–0.87) and have a history of epilepsy (p = 0.01, 95% CI: 0.23–0.77) but were also less likely to have a history of cytokine abnormalities on bloodwork (p < 0.001, 95% CI: 1.19–1.43) and have catatonia (p < 0.001, 95% CI: 1.54–2.17). The majority of alternative diagnoses (41/54, 76%) were autism spectrum disorder. In these cases, symptoms were more likely to be longstanding (symptoms > 12 months) and earlier onset (median 8 years, IQR: 6–11). Other diagnoses included epilepsy (5/54, 9%), Celiac disease (5/54, 9%), cerebrovascular disease (3/54, 6%). Conclusions: This study identifies that 20% of individuals referred with concerns for DSRD have alternative diagnoses. The majority of these diagnoses were autism, but rare treatable conditions were also identified, highlighting the importance of a thorough neurodiagnostic assessment. [ABSTRACT FROM AUTHOR]
Copyright of Journal of Autism & Developmental Disorders is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Purpose: Down Syndrome Regression Disorder (DSRD) is a diagnosis of exclusion. Psychiatric and neuroimmunologic etiologies have been proposed although the exact etiology remains unknown. This study sought to review non-DSRD diagnoses at a large quaternary medical center specializing in the diagnosis of DSRD and compare clinical characteristics between those diagnosed with DSRD and those with non-DSRD diagnoses. Methods: The authors performed a single-center retrospective, chart-based, review of referrals for developmental regression in individuals with Down syndrome. Results: Two hundred and sixty-six individuals were evaluated for DSRD and of these, 54 (20%) ultimately had alternative diagnoses. Individuals with DSRD were more likely to have shorter nadir to clinical symptoms (p = 0.01, 95% CI: 0.36–0.47) and have preceding triggers (p &lt; 0.001, 95% CI: 1.13–1.43) compared to those with alternative diagnoses. Individuals with non-DSRD diagnoses were more likely to be born premature (p = 0.01, 95% CI: 0.51–0.87) and have a history of epilepsy (p = 0.01, 95% CI: 0.23–0.77) but were also less likely to have a history of cytokine abnormalities on bloodwork (p &lt; 0.001, 95% CI: 1.19–1.43) and have catatonia (p &lt; 0.001, 95% CI: 1.54–2.17). The majority of alternative diagnoses (41/54, 76%) were autism spectrum disorder. In these cases, symptoms were more likely to be longstanding (symptoms &gt; 12 months) and earlier onset (median 8 years, IQR: 6–11). Other diagnoses included epilepsy (5/54, 9%), Celiac disease (5/54, 9%), cerebrovascular disease (3/54, 6%). Conclusions: This study identifies that 20% of individuals referred with concerns for DSRD have alternative diagnoses. The majority of these diagnoses were autism, but rare treatable conditions were also identified, highlighting the importance of a thorough neurodiagnostic assessment. [ABSTRACT FROM AUTHOR]
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  Data: &lt;i&gt;Copyright of Journal of Autism &amp; Developmental Disorders is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder&#39;s express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.&lt;/i&gt; (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=185099693
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        Value: 10.1007/s10803-023-06057-9
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      – SubjectFull: Diagnosis of Down syndrome
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      – SubjectFull: Retrospective studies
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