This study aimed to systematically assess the impact of clinical and demographic variables on the diagnostic yield of Whole Exome Sequencing (WES) when applied to children with Autism Spectrum Disorder (ASD) from a consanguineous population. Ninety-seven children were included in the analysis, 63% were male and 37% were females. 77.3% had a…

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…

Background: Recent evidence suggests that speech substantially changes in ageing. As a complex neurophysiological process, it can accurately reflect changes in the motor and cognitive systems underpinning human speech. Since healthy ageing is not always easily discriminable from early stages of dementia based on cognitive and behavioural…

Individuals living with intellectual disability can have multiple co-occurring medical conditions including associated genetic diagnoses. The number of genetic etiologies associated with ID is growing, with some quite new and rare, and others more common and associated with what is often considered a syndrome. In the context of genetic etiologies…

We aimed to identify unique constellations of sensory phenotypes for genetic etiologies associated with diagnoses of autism spectrum disorder (ASD) and intellectual disability (ID). Caregivers reported on sensory behaviors via the Sensory Profile for 290 participants (younger than 25 years of age) with ASD and/or ID diagnoses, of which…

Vitamin and fatty acid deficiency in children diagnosed with autism has been linked to the etiology and course of the disease but the results have been inconsistent. In our work, we present a narrative review, which includes 20 observational studies that provide data on the blood levels of vitamin D, folate, or fatty acids of children diagnosed…

Teachers play a crucial role in the diagnosis and management of children with attention deficit hyperactivity disorder (ADHD). In the United Arab Emirates (UAE), teachers' understanding of this condition has not been evaluated so far. Our study included teachers (n = 394) from 25 randomly selected primary schools in Dubai with the purpose of…

In Kazakhstan, the diagnosis of autism relies upon the expertise of various specialists and a range of measures that have not been researched to date. The present study collected data from a range of health specialists across Kazakhstan currently known to be involved in the diagnosis of children with autism. The research was an explanatory mixed…

Background: Speech in individuals with cleft lip and/or palate (CLP) is a complex myriad of presenting symptoms. It is uniquely associated with the structural difference of velopharyngeal insufficiency (VPI), together with a wide and heterogeneous range of other aetiologies which often co-occur. The nature of the speech sound disorder (SSD)…

Myhre syndrome (MS) is a connective tissue disorder with multisystem involvement with or without intellectual disability. In most cases SMAD4 mutations are reported. To date, 55 individuals have been molecularly confirmed. Autism has been proposed among associate clinical features of MS but no standardized diagnosis was available in previous…

Parents' understanding/expectations regarding genetic testing for children with developmental disorders were explored. Within a month of testing, interviews were conducted with 57 parents. Many (74%) could not recall the nature of testing. Parents expected genetic testing to have positive impacts for the child (93%) and the family (98%), mainly to…

Background: Despite extensive research on the specific learning disorder (developmental dyslexia) -- SLD (DD), many fallacies still cause confusion amongst professionals worldwide. These myths involve the characteristics, diagnoses and treatment of SLD (DD) and should be eradicated. Aim: The authors aimed to determine the knowledge, needs and…

Background & aims: Echolalia, the repetition of one's or others' utterances, is a behavior present in typical development, autism spectrum disorder, aphasias, Tourette's, and other clinical groups. Despite the broad range of conditions in which echolalia can occur, it is considered primarily through a disorder-specific lens, which limits a…

The present study investigated Florida teachers' perceptions of students with ADHD in the K-5 inclusive classroom settings. Attention deficit and hyperactivity disorder affects about 3-5% of American school-aged children. Participants (n = 48) were conveniently selected from 10 Florida public elementary schools. Participants completed the…

Autism spectrum disorder (ASD) describes a set of neurodevelopmental disorders. Despite extensive ASD research lasting more than 60 years, its causes are still unknown. Without indicating the etiology, its development cannot be stopped. Over the years, both the definition and diagnostic criteria have developed. The number of ASD incidence is…