The aim of this study was to examine genetic variations underlying the early neurodevelopmental outcome of developmental disabilities (DDs). The study cohort consisted of 191 children with DDs. Diagnosis was assessed at baseline and at the index age (72-84 months). Exome sequencing was conducted and putative risk variants were identified.…

Autism spectrum disorder (ASD) is manifested by abnormal cell numbers and patches of gene expression disruption in higher-order brain regions. Here, we investigated whether layer-specific changes in glia/neuron ratios (GNR) characterize patches in the dorsolateral prefrontal cortex (DL-PFC) of children with ASD. We analyzed high-resolution digital…

Objective: To examine the association between threatened miscarriage, and neurodevelopmental disorders, including autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) in offspring by age 14 years. Methods: We used data from the Millennium Cohort Study, a nationally representative longitudinal study of children born in…

Children with neurodevelopmental disorders are at risk for burn injury, but the clinical outcomes, particularly mortality, are unknown in this patient population in the United States (U.S.). The main objectives of this study are to evaluate (1) subject characteristics; (2) burn injury type; (3) clinical care provided; and (4) mortality in children…

Sensory Over-Responsivity (SOR) is an increasingly recognized challenge among children with neurodevelopmental concerns (NDC). To investigate, we characterized the incidence of auditory and tactile over-responsivity (AOR, TOR) among 82 children with NDC. We found that 70% of caregivers reported concern for their child's sensory reactions. Direct…

The dorsal stream vulnerability hypothesis posits that the dorsal stream, responsible for visual motion and visuo-motor processing, may be particularly vulnerable during neurodevelopment. Consistent with this, autism spectrum disorder (ASD) has been associated with deficits in global motion integration, though deficits in ventral stream tasks,…

Autism spectrum disorder (ASD) is a neurodevelopmental disorder marked by differences in social communication and the presence of restricted and repetitive patterns of behaviors and interests [American Psychiatric Association. (2013). "Diagnostic and statistical manual of mental disorders"]. The prevalence rate of autism has increased in…

Underrepresentation of socioeconomically, culturally, and/or linguistically diverse (SCLD) children with neurodevelopmental disorders (NDD) and their families has become a focal point for researchers. This systematic review aimed to identify researchers' strategies for recruiting and retaining SCLD families of children with NDD, published between…

In this study, we aimed to analyze the incremental effects of sensory integration therapy (SIT) plus neurodevelopmental therapy (NT) versus NT alone on the attention and motor skills in children with Down syndrome (DS). We randomly assigned into experimental (i.e. SIT + NT; n = 21) and control (i.e. NT alone; n = 21) groups. While NT was applied…

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…

Audiovisual (AV) integration, identified as a pivotal factor in comprehending speech in noisy environments, is a complex phenomenon. Understanding speech perception, even within a single modality, presents various nuances due to language specificity. When consolidating information from multiple modalities, it is imperative to understand how the…

The nature of relationships between service providers and parents of children with disabilities influences the health and wellbeing of parents and ultimately the quality of life of their children. The aim of this study was to explore parents' perceptions of their partnerships with service providers. We explored what was and was not working within…

Visual acuity significantly contributes to quality of life. Deficits in childhood are associated with reading difficulties, which can have detrimental effects on education outcomes. In adults, it has been observed that vision defects such as myopia are associated with higher educational attainment (EA). Understanding genetic factors contributing…

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…

The present study examined whether learning disabilities (LD) in reading and/or math (i.e., reading disability [RD], math disability [MD], and RD+MD) co-occur with other diagnoses. The data comprised a clinical sample (n = 430) with LD identified in childhood and a sample of matched controls (n = 2,140). Their medical diagnoses (according to the…