Effects of COVID-19 on Autism Spectrum Disorder in Qatar.

Introduction: The unprecedented impact of the coronavirus pandemic (COVID-19) has had profound implications on the ASD community, including disrupting daily life, increasing stress and emotional dysregulation in autistic children, and worsening individual and family well-being. Methods: This study used quantitative and qualitative survey data from parents in Qatar (n=271), to understand the impact of the COVID-19 pandemic on autistic children and their families in Qatar. The questionnaire was a combination of open-ended (qualitative) and closed-ended (quantitative) questions to explore patterns in the experiences of the different families, as well as to contrive themes. The survey was created in a way to evaluate the psychological, academic/intervention, economic, and other impacts of the pandemic related measures on a sample of multicultural families residing in the State of Qatar during the peak period of confinement and physical distancing in 2020. Data acquisition involved the utilization of Google Forms. Subsequent quantitative analysis employed the SPSS software and chi-square analysis for numerical examination, enabling the characterization of the studied population and exploration of associations between parental stress levels and variables such as employment status, therapy accessibility, presence of hired assistance, and alterations in their childs skills. Concurrently, qualitative data from written responses underwent thorough categorization, encompassing themes such as emotional isolation, mental or financial challenges, and difficulties in obtaining support. Results: Parents expressed distress and disturbance in their daily lives, including profound disruptions to their childrens access to treatment, education, and activities. Most parents reported deteriorations in their childrens sleep (69.4%), behavioral regulation (52.8%), and acquired skills across multiple domains (54.2%). Parents also reported decreased access to family and social support networks, as well as decreased quality of clinical and community support. Qualitative analysis of parental responses revealed that child developmental regression was an important source of parental stress. Discussion and conclusion: The greater impact of the pandemic on autistic children and their families emphasizes the need for accessible and affordable health, education, and family services to manage their special needs.

Consanguinity as a Risk Factor for Autism.

PURPOSE: Genetic and environmental risk factors associated with Autism Spectrum Disorders (ASD) continue to be a focus of research worldwide. Consanguinity, the cultural practice of marrying within a family, is common in cultures and societies of the Middle East, North Africa and parts of Asia. Consanguinity has been investigated as a risk factor for ASD in a limited number of studies, with mixed results. We employed registry and survey data from Qatar to evaluate the role of consanguinity as a risk factor for ASD. METHODS: Data were sourced from a national registry and a population-based survey of autism recently conducted in Qatar. We selected a sample of 891 children (mean age: 8.3 years) with (N = 361) or without (N = 530) ASD. Data on consanguinity and covariates were collected through questionnaires and interviews. RESULTS: The prevalence of consanguinity in the overall sample was 41.2% with no significant difference between cases and controls (42.1% vs 41.3%; p = .836). In adjusted multiple logistic regression analyses, consanguinity was not associated with risk of ASD (aOR = 1.065; 95% CI: .751-1.509; NS). CONCLUSION: Parental consanguinity was not associated with autism risk in our study. Replication in other populations with high rates of consanguineous unions is recommended.

Characterization of a loss-of-function NSF attachment protein beta mutation in monozygotic triplets affected with epilepsy and autism using cortical neurons from proband-derived and CRISPR-corrected induced pluripotent stem cell lines.

We investigated whether a homozygous recessive genetic variant of NSF attachment protein beta (NAPB) gene inherited by monozygotic triplets contributed to their phenotype of early-onset epilepsy and autism. Induced pluripotent stem cell (iPSC) lines were generated from all three probands and both parents. The NAPB genetic variation was corrected in iPSC lines from two probands by CRISPR/Cas9 gene editing. Cortical neurons were produced by directed, in vitro differentiation from all iPSC lines. These cell line-derived neurons enabled us to determine that the genetic variation in the probands causes exon skipping and complete absence of NAPB protein. Electrophysiological and transcriptomic comparisons of cortical neurons derived from parents and probands cell lines indicate that loss of NAPB function contributes to alterations in neuronal functions and likely contributed to the impaired neurodevelopment of the triplets.