and the CAUSES Study 1 Purpose: The presentation and etiology of cerebral palsy (CP) are heterogeneous. Diagnostic evaluation can be a prolonged and expensive process that might remain inconclusive. This study aimed to determine the diagnostic yield and impact on management of next-generation sequencing (NGS) in 50 individuals with atypical CP (ACP). Methods: Patient eligibility criteria included impaired motor function with onset at birth or within the first year of life, and one or more of the following: severe intellectual disability, progressive neurological deterioration, other abnormalities on neurological examination, multiorgan disease, congenital anomalies outside of the central nervous system, an abnormal neurotransmitter profile, family history, brain imaging findings not typical for cerebral palsy. Previous assessment by a neurologist and/or clinical geneticist, including biochemical testing, neuroimaging, and chromosomal microarray, did not yield an etiologic diagnosis. Results: A precise molecular diagnosis was established in 65% of the 50 patients. We also identified candidate disease genes without a current OMIM disease designation. Targeted intervention was enabled in eight families (~15%). Conclusion: NGS enabled a molecular diagnosis in ACP cases, ending the diagnostic odyssey, improving genetic counseling and personalized management, all in all enhancing precision medicine practices.

Intellectual disability (ID), previously known as mental retardation, affects 3% of the population and remains without pharmacological treatment. ID is characterized by impaired general mental abilities associated with defects in adaptive function in which onset occurs before 18 years of age. Genetic factors are increasing and being recognized as the causes of severe ID due to increased use of genome-wide screening tools. Unfortunately drug discovery for treatment of ID has not followed the same pace as gene discovery, leaving clinicians, patients, and families without the ability to ameliorate symptoms. Despite this, several model organisms have proven valuable in developing and screening candidate drugs. One such model organism is the fruit fly Drosophila. First, we review the current understanding of memory in human and its model in Drosophila. Second, we describe key signaling pathways involved in ID and memory such as the cyclic adenosine 3′,5′-monophosphate (cAMP)–cAMP response element binding protein (CREB) pathway, the regulation of protein synthesis, the role of receptors and anchoring proteins, the role of neuronal proliferation, and finally the role of neurotransmitters. Third, we characterize the types of memory defects found in patients with ID. Finally, we discuss how important insights gained from Drosophila learning and memory could be translated in clinical research to lead to better treatment development.

Objectives: To assess the prevalence and characteristics of Autism Spectrum Disorder (ASD)-affected children attending autistic centers in 2 major cities in Saudi Arabia. Methods: A cross-sectional study, including ASD centers and schools (37 centers) in Makkah and Jeddah, Saudi Arabia was conducted between January and March 2020. Data were collected from records and parents of children with ASD using a questionnaire on sociodemographic, family history, consanguinity, severity, and maternal risk factors. Results: All centers in Makkah and Jeddah participated, with a total of 1,023 ASD children. The prevalence of ASD was 2.618 per 1,000 children for Jeddah, 3.68 per 1,000 children for Makkah and 2.81 per 1,000 children for both Jeddah and Makkah. There was no statistically significant relationship between the severity of ASD and sociodemographic, family and maternal risk factors. However, there was statistically significant relationship between severe ASD and ASD family history ( p =0.029, OR: 3.46 and 95% CI 1.14 to 10.5). Conclusions: The prevalence of ASD in Makkah and Jeddah was lower than the global prevalence of ASD. Individuals with a family history of ASD were more likely to have more severe ASD.

Autism spectrum disorder (ASD) prevalence has escalated in the last few decades; it is common to have children with ASD seek dental treatment. Their unique behavior patterns prevent them from attending a regular dental setting and receiving proper oral hygiene instructions (OHI); therefore, culturally adapted dental visual aids are necessary to teach them proper OHI. The aim of this study was to assess the effectiveness of culturally adapted dental visual aids in improving oral hygiene (OH) status in children with ASD. A blinded, randomized, controlled clinical trial with sixty-four children with ASD were randomly divided into two groups according to the type of dental visual aids given to them. The experimental group received culturally adapted dental visual aids developed specifically for the study, and the control group received regular dental visual aids. OH status was assessed before and after using the dental visual aids, and data were processed using SPSS version 25.0. OH status improved significantly in both groups after using the dental visual aids (p < 0.001, p < 0.001), respectively. The experimental group showed significant improvement in comparison to the control group in OH status (p = 0.030). Both dental visual aids showed effectiveness in improving OH status in children with ASD.

Attention deficit hyperactivity disorder (ADHD) is one of the most common neurodevelopmental disorders among children. Working memory deficits underlie many of the behavioural symptoms of ADHD. Alongside psychostimulant medications, strategies to improve working memory may play an important adjuvant role in the management of ADHD. In this study, we review the role of working memory deficits in ADHD, the evidence surrounding working memory training strategies in the management of the condition, and the factors affecting the success of these strategies in alleviating ADHD symptoms. More specifically, we review several non-pharmacological interventions that target working memory deficits in ADHD, with special emphasis on cognitive working memory training. We conclude that the development of evidence-based interventions such as computerised cognitive training (CCT) could provide an alternative or adjunct to the use of psychostimulants, especially in cases where side effects are a major issue.