The purpose of the study was to investigate velopharyngeal timing in children with and without speech sound disorders (SSDs) of unknown etiology. Six U.S. preschool-age children participated in the investigation. Three of the children had typically developing speech and language and three had SSDs of unknown etiology. Aerodynamic testing of the…

Objective: The purpose of this rapid review is to appraise the current evidence-base to inform the development of a new assessment and diagnostic pathway for ADHD presentations in a public health paediatric department in Brisbane. We posited that the standardised WISC-V administration in all ADHD presentations regardless of cognitive indication…

Approximately 3-4 boys for every girl meet the clinical criteria for autism in studies of community diagnostic patterns and studies of autism using samples of convenience. However, girls with autism have been hypothesized to be underdiagnosed, possibly because they may present with differing symptom profiles as compared to boys. This secondary…

Families of children with autism spectrum disorder (ASD) face challenges engaging in services following diagnosis. This study: (1) developed and implemented a toolkit to tailor ASD evaluation feedback to families' needs, and (2) evaluated caregiver and provider perceptions of the toolkit. Focus groups with providers (N = 11) informed toolkit…

The past fifteen years has seen a dramatic improvement in our understanding of hearing and hearing loss. Scientists have worked to identify dozens of genes involved in hearing loss and elucidate the complex molecular machinery responsible for hearing. At the same time, there have been rapid advances in clinical diagnostic tools including imaging…

Clinician and caregiver reports of autism features are both integral to receiving an autism diagnosis and appropriate intervention, yet informant discrepancies are present in clinical practice and may differ by demographic characteristics of the child and family. The present study examined how clinician-caregiver discrepancies in ratings of a…

Purpose: The aim of the present study was to compare scale and conditional reliability derived from item response theory analyses among the most commonly used, as well as several newly developed, observation, interview, and parent-report autism instruments. Methods: When available, data sets were combined to facilitate large sample evaluation.…

A dyslexia diagnosis in Denmark can have significant consequences for individuals, as support is not available to others with reading difficulties. Currently, the diagnosis is given solely on the basis of an electronically administered test consisting of two tasks assessing grapheme-phoneme correspondences. To examine whether the Danish diagnostic…

Background: Extensive variation in the terminology used for paediatric diagnoses across the speech and language therapy research literature is an internationally recognized problem. Little is known, however, about how and how often diagnoses are given in a clinical context. In the UK, speech and language therapists (SLTs) identify and support…

As rates of autism spectrum disorder (ASD) increase, there is an increasing need for clinicians who offer accurate ASD assessments. The Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) is a standardized assessment tool that is commonly recommended for use in comprehensive ASD evaluations. However, practitioners do not always follow…

There is limited research regarding the Gilliam Autism Rating Scales-3rd Edition (GARS-3) despite its extensive use. A comprehensive diagnostic evaluation, including the Autism Diagnostic Observation Schedule--2nd Edition (ADOS-2) was provided to 186 clinically referred children suspected of autism ([x-bar] age = 8.98; Autism [AUT] n = 87; Not…

The COVID-19 pandemic and the subsequent social distancing policies forced healthcare teams to drastically alter the way they deliver services. This was particularly challenging for clinicians involved in diagnosing autism spectrum disorder (ASD), as assessment tools and methods required face-to-face social interactions between clinicians and…

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…

Background: Mucopolysaccharidosis type III (MPS III) is a rare lysosomal storage disease with systemic complications. This scoping review aimed to synthesise evidence regarding methods to diagnose and monitor MPS III. Methods: We searched 10 databases for English and Spanish citations published from 2017 to 2022. Our study focused on human-based…

Sensory features are part of the diagnostic criteria for autism and include sensory hypo/hyper reactivity and unusual sensory interest; however, additional sensory differences, namely differences in sensory integration, have not been routinely explored. This study characterized sensory integration differences in a cohort of children (n = 93) with…