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…

Purpose: Patients with neurodevelopmental disorders (NDD) (i.e. autism, developmental delay, early-onset psychiatric or seizure disorders) increasingly seek evaluation of new or exacerbated symptoms concerning for autoimmune encephalitis (AE). Clinical AE evaluation can be challenging in NDD patients with symptom overlap between anti-neuronal…

The present study aimed to identify the cumulative incidence of autism spectrum disorder (ASD) in a thoroughly screened population and to examine the behavioral and motor characteristics observed in children with ASD at the age of 18 months. Subjects were 1067 children who underwent a screening assessment for ASD at the routine 18-months health…

Imaging technologies such as positron emission tomography (PET) and magnetic resonance imaging (MRI) present unparalleled opportunities to investigate the neural basis of autism spectrum disorder (ASD). However, challenges such as deficits in social interaction, anxiety around new experiences, impaired language abilities, and hypersensitivity to…

The study examined timing of autism spectrum disorder (ASD) identification in education versus health settings for 8-year-old children with ASD identified through records-based surveillance. The study also examined type of ASD symptoms noted within special education evaluations. Results indicated that children with records from only education…

Limited guidance is available for families of youth with ASD (YASD) to prepare for invasive medical procedures. This study examined caregiver perspectives regarding YASD's gastrointestinal endoscopy (GE) experience to improve the endoscopy experience for YASD. Thirty-four caregivers of YASD, (M = 9.85 years, SD = 4.6) who underwent GE at Rady…

Despite current guidelines, few children with autism spectrum disorder (ASD) receive genetic evaluations. We surveyed Utah pediatricians to characterize the knowledge, beliefs, current practices and perceived barriers of pediatricians regarding genetic evaluation of children with ASD. We found over half lacked knowledge of current guidelines and…

The transition from pediatric to adult health care is a vulnerable time period for autistic adolescents and young adults (AYA) and for some autistic AYA may include a period of receiving care in both the pediatric and adult health systems. We sought to assess the proportion of autistic AYA who continued to use pediatric health services after their…

Regional differences in ASD inpatient care remain understudied. We used the Nationwide Inpatient Sample to examine contributory causes and potential determinants associated with regional variations in ASD hospitalizations. We performed univariate and multivariate analyses to identify differences in ASD hospitalizations across four U.S. Census…

Knowledge about the quality of care delivered to children with autism spectrum disorders (ASD) in relation to that recommended by clinical practice guidelines (CPGs) is limited. ASD care quality indicators were developed from CPGs and validated by experts, then used to assess the quality of care delivered by general practitioners (GPs) and…

This study was designed to track the developmental trajectory, during the first 24 months of life, of 335 low-risk infants later diagnosed with Autism Spectrum Disorder and identify early deviations observed in routine Well Care checkups. We compared their achievements to typically developing children and to children later diagnosed with…

Sixteen fathers of individuals with autism were interviewed to develop a grounded theory explaining how they learned about their children's autism diagnosis. Results suggest the orientation process entails at least two phases: orienting oneself and orienting others. The orienting oneself phase entailed fathers having suspicion of developmental…

To identify factors associated with valid Autism Spectrum Disorder (ASD) diagnoses from electronic sources in large healthcare systems. We examined 1,272 charts from ASD diagnosed youth <18 years old. Expert reviewers classified diagnoses as confirmed, probable, possible, ruled out, or not enough information. A total of 845 were classified with…

We implemented screening of children 16-30 months of age (n = 1,760) from a typically under-served, primarily Hispanic, population, at routine pediatric appointments using the modified checklist for autism in toddlers (M-CHAT) and Ages and Stages Questionnaire. Screen positive rates of 26 and 39%, respectively, were higher than previous reports.…

We present an instrument to allow individuals with autism spectrum disorder, their families and/or their caregivers to prepare emergency department staff for the care needs of this patient population ahead of acute presentation.