Health Surveillance in a Down Syndrome Specialty Clinic: Implementation of Electronic Health Record Integrations During the Coronavirus Disease 2019 Pandemic.

Objective: To address gaps in routine recommended care for children with Down syndrome, through quality improvement during the coronavirus disease 2019 (COVID-19) pandemic.

Study Design: A retrospective chart review of patients with Down syndrome was conducted. Records of visits to the Massachusetts General Hospital Down Syndrome Program were assessed for adherence to 5 components of the 2011 American Academy of Pediatrics (AAP) Clinical Report, "Health Supervision for Children with Down Syndrome.

Co-occurring conditions in children with Down syndrome and autism: a retrospective study.

Background: Down syndrome (DS) is one of the most common genetic causes of intellectual disability, and it is associated with an increased incidence of numerous co-occurring conditions. Autism spectrum disorder (ASD) is common in persons with DS, with rates reported as high as 39%. However, little is known regarding co-occurring conditions in children with both DS and ASD.

Buspirone for the Treatment of Generalized Anxiety Disorder in Down Syndrome: 3 Cases.

Objective: Reports on the pharmacologic treatment of anxiety, including generalized anxiety disorder (GAD), in individuals with Down syndrome (DS) are lacking.

Methods: We present the case histories of 1 adolescent and 2 young adults with DS and the treatment course of comorbid GAD with buspirone.

Results: Treatment with buspirone was safe and well-tolerated and resulted in sustained improvement in symptoms of anxiety for a minimum of 2 years in all 3 cases.

Comparison of Services for Autism Spectrum Disorder in Massachusetts with Those in Seoul.

Background: This article intended to identify and describe areas in need of services and interventions for individuals with autism spectrum disorder (ASD) and their families in Seoul, Korea.

Methods: A descriptive comparison was made between available services and interventions in Seoul, Korea and Massachusetts, USA. Relevant information was obtained through sending phone/email inquiries to the governments and organizations, visiting their official websites, and searching for published articles or reports.

Investigating Potential Biomarkers in Autism Spectrum Disorder.

Background: Early identification and treatment of individuals with autism spectrum disorder (ASD) improves outcomes, but specific evidence needed to individualize treatment recommendations is lacking. Biomarkers that could be routinely measured within the clinical setting could potentially transform clinical care for patients with ASD. This demonstration project employed collection of biomarker data during regular autism specialty clinical visits and explored the relationship of biomarkers with clinical ASD symptoms.

Accuracy of self-reported history of autoimmune disease: A pilot study.

Research associating the increased prevalence of familial autoimmunity with neuropsychiatric disorders is reliant upon the ascertainment of history of autoimmune diseases from relatives. To characterize the accuracy of self-report, we compared self-reported diagnoses of 18 autoimmune diseases using an online self-report questionnaire to the electronic medical record (EMR) diagnoses in 1,013 adult (age 18-70 years) patients of a primary care clinic. For the 11 diseases meeting our threshold observed prevalence, we estimated sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for self-reported diagnoses under the assumption that EMR-based diagnoses were accurate.

Brief Report: Autism Spectrum Disorder and Substance Use Disorder: A Review and Case Study.

There is limited literature available on the comorbidity between autism spectrum disorder (ASD) and substance use disorder (SUD). This paper reviews existing literature and exemplifies the challenges of treating this population with a case report of an adult male with ASD and DSM-5 alcohol use disorder. This review and case study seeks to illustrate risk factors which predispose individuals with ASD to developing SUD and discuss the obstacles to and modifications of evidence-based treatments for SUD.

Female Autism Phenotypes Investigated at Different Levels of Language and Developmental Abilities.

This study investigated the differences in clinical symptoms between females and males with autism spectrum disorder (ASD) across three verbal ability groups (nonverbal, phrase and fluent speech), based on which Autism Diagnostic Observation Schedule module was administered to 5723 individuals in four research datasets. In the Simons Simplex Collection and Autism Treatment Network, females with ASD and phrase or fluent speech had lower cognitive, adaptive, and social abilities than males. In the Autism Genetics Resource Exchange and the Autism Consortium, females with phrase or fluent speech had similar or better adaptive and social abilities than males.