Our institution developed and continuously improved a Neurodevelopmental Reflex (NDR) algorithm to help physicians with genetic test ordering for neurodevelopmental disorders (NDDs). To assess its performance, we performed a retrospective study of 511 patients tested through NDR from 2018 to 2019. SNP Microarray identified pathogenic/likely…

There is increasing literature showing that the presentation of Autism Spectrum Disorder (ASD) could be different according to the sex of the patient. Through the analysis of the Autism Diagnostic Interview Revised interview results of a study group consisting of 56 preschool children diagnosed with ASD potential differences in the presentation of…

The aims of this study were to describe the practice patterns for early screening and evaluation for ASD diagnosis in Bulgaria, as well as to identify potential barriers and facilitators in this process. We surveyed a sample of pediatricians and pediatric psychiatrists to analyze the use of standardized instruments, application of biomarkers,…

Purpose: The purpose of this study was to use objective measures of glottal gap, bowing, and supraglottic compression from selected images of laryngoscopic examinations from adults over 60 years of age with voice complaints and signs of aging to test current hypotheses on whether degree of severity impacts treatment recommendations and potential…

The practical work described here is designed for third-year bachelor students in Life Sciences attending a kidney physiology course. It illustrates how urinary biochemistry can be used for a medical diagnosis. Students have to measure glucose, proteins, and creatinine concentrations in three simulated urine samples. First, they independently…

We propose a general cognitive diagnosis model framework to diagnose mental disorders using item scores obtained from clinical measurement instruments. This framework can be used to validate the extent to which the items measure the specific disorders. The method is illustrated using data obtained with the Dutch version of Millon Clinical…

This research investigated 20 middle and high school teachers' use of project-based learning curriculum after engaging in a 115-hour professional development program that was developed collaboratively with medical school and education faculty. The project-based learning (PBL) unit centered on the case of Marcus Brown (a pseudonym), a high school…

Objectives: Military retirement happens early in the lifespan presenting a unique transition that challenges chronic illness. The purpose of this study was to explore the factors that military retirees experience as they transition from active duty to military retirement that they perceive as inhibiting their ability to manage type 2 diabetes…

Purpose: The aim of this longitudinal study was to describe developmental courses of childhood dysarthria against the background of typical speech motor development by collecting auditory-perceptual data. Method: Fourteen children (four girls, 10 boys; 5;1-8;4 [years;months] at Time 1) with neurological conditions (CNC) and 14 typically developing…

Background: Nodular thyroid disease is relatively common although thyroid cancer is rare. The aim of this study is to evaluate the advantage and reliability of conventional ultrasound in correlating sonographic characteristics of thyroid nodule with US-FNAC guided result as a diagnostic aid in thyroid nodule. Method: 111 patients were examined by…

Introduction: The primary aim of this retrospective study was to assess differential associations between sleep disturbances with externalizing/internalizing problems, ADHD profiles (inattention, hyperactivity/impulsivity), and social impairment among children with ADHD, autism spectrum disorder (ASD), and comorbid diagnoses (ASD+ADHD). Methods:…

Elucidating the heterogeneous etiologies of autism will require investment in comprehensive longitudinal data acquisition from large community based cohorts. With this in mind, we have established a hospital-university-based (HUB) database of autism which incorporates prospective and retrospective data from a large and ethnically diverse…

Background: Sub-Saharan Africa (SSA) including Senegal is faced with a significant and increasing burden of type 2 diabetes. However, little information is available about diabetes management among Senegalese diabetics. Purpose: The current study aims to describe the level of glycemic control among a convenience sample of diabetics who receive…

Background: Coronary heart disease (CHD) patients require monitoring through ECGs; the 12-lead electrocardiogram (ECG) is considered to be the non-invasive gold standard. Examples of incorrect treatment because of inaccurate or poor ECG monitoring techniques have been reported in the literature. The findings that only 50% of nurses and less than…

Background: Duchenne muscular dystrophy (DMD) leads to progressive muscular weakness and death, most typically from respiratory complications. Dysphagia is common in DMD; however, the most appropriate swallowing assessments have not been universally agreed and the symptoms of dysphagia remain under-reported. Aims: To investigate symptoms of…