Pubmed du 17/01/22
1. Beheshti SZ, Hosseini SS, Maroufizadeh S, Almasi-Hashiani A. Occupational performance of children with autism spectrum disorder and quality of life of their mothers. BMC research notes. 2022; 15(1): 18.
OBJECTIVES: Limited studies were found to investigate the occupational performance of autistic children and their parents’ quality of life. Therefore, this study aimed to investigate occupational performance of children with Autism Spectrum Disorder (ASD) and QoL of their mothers. RESULTS: In this study, 88 participants were selected from autism centers in Arak, Iran, 2020. The Canadian Occupational Performance Measure (COPM) and the parent version of Quality of Life in Autism Questionnaire (QoLA-P) were used to assess the occupational performance of ASD children and their mothers QoL. QoLA-P consists of parts A which is related to the quality of life and part-B related to the problems that these children have and are related to the parents or their caregivers. Regarding occupational performance, the first priority of mothers is self-care with frequency 64.8%. The finding suggested a significant correlation between total function score of COPM and the score of part-A (r = 0.227, p = 0.033) of QoLA-P. Also, the results revealed a significant correlation between the total satisfaction score of COPM and the score of part-A (r = 0.236, p = 0.026) and part-B of QoLA-P questionnaire (r = 0.231, p = 0.030). The mothers’ first priority is self-care and, the total satisfaction and function score of COPM showed a significant correlation with mothers’ QoL.
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2. Cui X, Wu X, Wang H, Zhang S, Wang W, Jing X. Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects. Molecular genetics & genomic medicine. 2022; 10(2): e1863.
BACKGROUND: Cyclin-dependent kinase 13 plays a critical role in the regulation of gene transcription. Recent evidence suggests that heterozygous variants in CDK13 are associated with a syndromic form of mental deficiency and developmental delay, which is inherited in an autosomal dominant manner. METHODS: A mentally retarded mother (33-year-old) and son (10-year-old boy) in our hospital with CDK13 variant (c.2149 (exon 4) G>A. p.Gly717Arg) were detected by whole-exome sequencing (WES). All published CDK13 variant syndrome cases as of November 11, 2021, were searched, and their clinical information was recorded and summarized. RESULTS: We studied two patients in a Chinese family with a heterozygous constitutional CDK13 variant (c.2149 (exon 4) G>A. p.Gly717Arg), exhibiting the classical characteristics of dysmorphic facial features and intellectual developmental disorder (CHDFIDD, OMIM # 617360), without congenital heart defects. This is the first reported case of an adult patient with a CDK13 variant that gave birth to the next generation with the same variant. Preimplantation genetic testing for monogenic disease (PGT-M) was performed for the proband and her husband with full informed consent and successfully blocked the inheritance of the disease. CONCLUSION: Our study is of great significance for molecular diagnosis and genetic counseling of patients with CDHFIDD and extends the variant spectrum of CDK13.
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3. Fearns N, Walker L, Graham K, Gibb N, Service D. User testing of a Scottish Intercollegiate Guideline Network public guideline for the parents of children with autism. BMC health services research. 2022; 22(1): 77.
BACKGROUND: The Scottish Intercollegiate Guidelines Network (SIGN) is the leading national clinical guideline producer in Scotland. Improved design and dissemination of guidelines produced for the public can empower people to take an active role in self-management and shared decision-making. The public version of the guideline examined covered getting assessed and diagnosed with autism, and approaches that can help. The aim of this study was to test a public version of a guideline for the parents of children and young people with autism, implement improvements, and identify what works in making it usable and accessible. METHODS: We recruited mothers from across Scotland. User testing involved formal ‘think aloud’ semi-structured interviews that guided users through the booklet. Interviews took place individually and were recorded and transcribed. Key findings were identified and themed using the honeycomb user experience model. RESULTS: Fourteen user-testing interviews were conducted. Facilitators for usability and desirability of the guideline included the chunking of text, consistent use of colour and boxes to highlight important information. Simple language, written in a tone of partnership, helped to engage mothers. Value arose from the guidelines ability to explain the process of diagnosis and make mothers feel empowered in their relationships with healthcare professionals. There was a lack of consensus on the usefulness of rating the strength of evidence and recommendations. CONCLUSION: There was a marked similarity between what was important to the mothers and what has been found to be important to other groups. The involvement of service users and carers in the guidelines development was key to its credibility. One size does not fit all in presenting evidence-based recommendations to the public and it is a challenge to provide sufficient information while avoiding information overload. Recommendations and evidence levels are suitable for use in public versions, but these should be kept as simple as possible.
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4. Mostafa GA, ElGebaly HH, Shehab AAS, Mohamed M. Up-regulated serum levels of TAM receptor tyrosine kinases in a group of Egyptian autistic children. Journal of neuroimmunology. 2022; 364: 577811.
TAM receptor family belongs to receptor tyrosine kinases (TAMRTKs). It includes three receptors; Tyro-3, Axl and Mer. TAMRTKs has a great role in resolution of inflammation due to their role in clearance of apoptotic cells by macrophages. Dysregulated TAM signaling pathways are associated with many autoimmune diseases and chronic inflammatory disorders. Autism may be an autoimmune disease in some patients. This work was the first study that investigated serum levels of the soluble ectodomain shed TAMRTKs in a group of autistic children. Serum levels of TAMRTKs were measured by ELISA in 30 autistic children aged between 3.5 and 11 years and 30 age and sex-matched healthy control children. Serum levels of TAMRTKs were significantly higher in autistic children than healthy control children (P < 0.001). Patients with severe autism had significantly higher serum levels of TAMRTKs than patients with mild to moderate autism (P < 0.01). In addition, there were significant positive correlations between scores of the Childhood Autism Rating Scale (CARS) and serum levels of TAMRTKs in autistic patients, (P < 0.01). In conclusions, serum levels of TAMRTKs were up-regulated in autistic children with significant positive correlations with the degree of the disease severity. This initial report requires further studies to investigate the relationship between TAMRTKs and autism.
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5. Wang Y, Hu D, Wu Z, Wang L, Huang W, Li G. Developmental Abnormalities of Structural Covariance Networks of Cortical Thickness and Surface Area in Autistic Infants within the First 2 Years. Cerebral cortex (New York, NY : 1991). 2022.
Converging evidence supports that a collection of brain regions is functionally or anatomically abnormal in autistic subjects. Structural covariance networks (SCNs) representing patterns of coordinated regional maturation are widely used to study abnormalities associated with neurodisorders. However, the possible developmental changes of SCNs in autistic individuals during the first 2 postnatal years, which features dynamic development and can potentially serve as biomarkers, remain unexplored. To fill this gap, for the first time, SCNs of cortical thickness and surface area were constructed and investigated in infants at high familial risk for autism and typically developing infants in this study. Group differences of SCNs emerge at 12 months of age in surface area. By 24 months of age, the autism group shows significantly increased integration, decreased segregation, and decreased small-worldness, compared with controls. The SCNs of surface area are deteriorated and shifted toward randomness in autistic infants. The abnormal brain regions changed during development, and the group differences of the left lateral occipital cortex become more prominent with age. These results indicate that autism has more significant influences on coordinated development of surface area than that of cortical thickness and the occipital cortex maybe an important biomarker of autism during infancy.
