ABSTRACT
Background: Quarantine measures during the COVID-19 lockdown had a negative impact on children's psychology and development. In this study, we aimed to evaluate the psychological impact of quarantine on children due to the COVID-19 pandemic in Saudi Arabia and to assess types of reported child maltreatment before and after the pandemic. Methods: A cross-sectional survey among parents was performed along with a retrospective data review for anonymized data from the National Family Safety Program, Saudi Arabia. 436 children participated in this survey during June-November 2020. Results: The percentage of fathers with an organic or psychological illness in the children with elevated anxiety levels is 18.5% (p-value = 0.019). The anxiety level of the participants was assessed using the Generalized Anxiety Disorder Assessment (GAD-7). Based on the scores, 10.1% had severe anxiety. The depression level of the participants was assessed using Patient Health Questionnaire (PHQ-9). Based on the scores, 4.4% had severe depression. The anxiety level of the children was assessed using Spence Children's Anxiety Scale - Parent (SCAS-Parent). Based on the overall score, 28.1% of the children had elevated anxiety levels. The anxiety level was elevated in a panic attack and agoraphobia for 36.8% of the kids, in separation anxiety for 26.8%, in physical injury fears for 35.1%, in social phobia for 19%, in obsessive-compulsive for 25.1%, and in generalized anxiety disorder/overanxious for 27.3%. Conclusion: Quarantine and lockdown during the period of the COVID-19 pandemic have had a negative impact and many adverse effects on the mental and intellectual development of children. These negative outcomes may be addressed via well-planned multilevel interventions.
ABSTRACT
Neurofibromatosis type 1 is a common multisystem autosomal dominant syndrome caused by pathogenic heterozygous variants in the neurofibromin gene (NF1). It is associated with a substantially increased cancer risk. Mosaicism for NF1 has been clinically well-established for "second hit" variants in skin lesions and tumor tissues. Here, we report on a 3-month-old boy with multiple café au lait macules (CAMs) and juvenile myelomonocytic leukemia (JMML) who was found to carry a previously established pathogenic NF1 variant (c.586+5G>A), as revealed by whole-exome sequencing. Surprisingly, however, this variant was detected in the homozygous state in the patient and was absent in the parents and siblings. Deep sequencing of this variant using blood, buccal swabs and skin samples was performed. As expected for an NF1 gene mutation promoting JMML, the variant was detected in 90.6% of the blood DNA reads, in sharp contrast to the mere 5% and 0.74% of reads in the saliva- and skin fibroblast-derived DNA, respectively. Our analysis, therefore, confirmed postzygotic origin of the variant followed by a mitotic event resulting in its homozygosity, although we could not differentiate between the possibilities of a gene conversion and mitotic crossover. Apparently de novo homozygous variants should trigger a careful investigation into mosaicism to achieve accurate interpretation.
