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…

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…

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.…

Past research shows poor agreement between the Autism Diagnostic Interview-Revised (ADI-R) and other diagnostic measures in toddlers. Our goal was to examine whether exclusion of the ADI-R behavioral domain results in improved diagnostic agreement. Toddlers aged 16-37 months (M = 26 months) received an evaluation because they failed the Modified…

Autism Spectrum Disorders (ASD) diagnosis in very young children may be delayed due to doubts about validity. In this study, 77 children received a diagnostic and developmental evaluation between 16 and 35 months and also between 42 and 82 months. Diagnoses based on clinical judgment, Childhood Autism Rating Scale, and the Autism Diagnostic…

The authors conducted extensive neurological evaluations of 42 autistic individuals and were surprised to discover a consistently positive snout reflex in most of them. Difficulties with assessing the reflex are noted. The authors then reassessed the Ss for a series of primitive reflexes which are interpreted as signs of diffuse cortical brain…

A study of 31 autistic patients (3-28 years old) has revealed several immune-system abnormalities, including decreased numbers of T lymphocytes and an altered ratio of helper-to-suppressor T cells. Immune-system abnormalities may be directly related to underlying biologic processes of autism or an indirect reflection of the actual pathologic…