Pubmed du 07/03/22
1. AlBatti TH, Alsaghan LB, Alsharif MF, Alharbi JS, BinOmair AI, Alghurair HA, Aleissa GA, Bashiri FA. Prevalence of autism spectrum disorder among Saudi children between 2 and 4 years old in Riyadh. Asian journal of psychiatry. 2022; 71: 103054.
OBJECTIVES: We aimed to estimate the prevalence of autism spectrum disorder between 2 and 4 years old in Riyadh, Saudi Arabi Methods: A cross-sectional study was conducted among Saudi children aged 2-4 years between December 2017 and March 2018 at five different hospitals in Riyadh. RESULTS: A Total of 398 children were included. The prevalence of ASD was estimated to be (2.51%, 1:40, 25 per 1000)), with a male to female ratio of 3:1. CONCLUSION: The estimated high prevalence rate of ASD is close to recent trends in international studies. Future population-based studies are required.
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2. Fabio RA, Semino M, Giannatiempo S. The GAIRS Checklist: a useful global assessment tool in patients with Rett syndrome. Orphanet journal of rare diseases. 2022; 17(1): 116.
BACKGROUND: Rett Syndrome is a severe, neurodevelopmental disorder mainly caused by mutations in the MECP2 gene, affecting around 1 in 10,000 female births. Severe physical, language, and social impairments impose a wide range of limitations in the assessment of the abilities of Rett patients. This study proposes an analysis and first validation of a Global Assessment and Intervention in Rett syndrome (GAIRS) Checklist for assessing behavioral, intellectual, academic, neuropsychological and psychosocial manifestations in patients with Rett Syndrome. We administered the GAIRS Checklist to 113 Italian patients with Rett Syndrome aged 4-42. AIMS OF THIS STUDY: To examine the psychometric characteristics of the GAIRS Checklist. Moreover, the aim is also to examine the validity of GAIRS with test-retest correlation, convergent validity with similar functional measurements, such as the Vineland scales, and divergent validity with severity of disease scale, such as the RARS scale and severity of neuropsychiatric evaluations. RESULTS: All 10 subscales of GAIRS were positively and significantly related to each other and to the total GAIRS score, and the subscales showed high levels of Cronbach’s alpha values (from .77 to .95). Principal axis factoring suggested two factors that explain 60% of the variance. Test-retest reliability is 0.82. This means that psychometric properties are reliable. Correlation for Concurrent validity with Vineland score was high and Divergent Validity with RARS was also high. CONCLUSION: The GAIRS Checklist used for Rett syndrome is acceptable and feasible to complete assessment in a clinical setting. Moreover, it can detect the complexity of this disease and may suggest the next step in terms of specific training in Rett syndrome.
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3. Grimm NB, Lee JT. Selective Xi reactivation and alternative methods to restore MECP2 function in Rett syndrome. Trends in genetics : TIG. 2022.
The human X-chromosome harbors only 4% of our genome but carries over 20% of genes associated with intellectual disability. Given that they inherit only one X-chromosome, males are more frequently affected by X-linked neurodevelopmental genetic disorders than females. However, despite inheriting two X-chromosomes, females can also be affected because X-chromosome inactivation enables only one of two X-chromosomes to be expressed per cell. For Rett syndrome and similar X-linked disorders affecting females, disease-specific treatments have remained elusive. However, a cure may be found within their own cells because every sick cell carries a healthy copy of the affected gene on the inactive X (Xi). Therefore, selective Xi reactivation may be a viable approach that would address the root cause of various X-linked disorders. Here, we discuss Rett syndrome and compare current approaches in the pharmaceutical pipeline to restore MECP2 function. We then focus on Xi reactivation and review available methods, lessons learned, and future directions.
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4. Piraneh H, Gholami M, Sargeran K, Shamshiri AR. Oral health and dental caries experience among students aged 7-15 years old with autism spectrum disorders in Tehran, Iran. BMC pediatrics. 2022; 22(1): 116.
BACKGROUND: Autism spectrum disorders (ASD) are a set of developmental, psychological, and neurological disorders that occur in early childhood. The most important characteristic of individuals with autism is difficulty in social interactions and communication. Researchers in the field of oral health have not paid enough attention to these individuals due to their specific behavioral characteristics. Therefore, due to the limitations of the studies in this field in Iran, increasing prevalence of autism, and importance of oral health in people with ASD, this study was conducted to evaluate the oral health status of primary school students with autism (7-15 years old) in autism schools in Tehran. METHODS: Students from seven governmental special primary schools in Tehran were selected for this study. Data about oral health behavior and the presence of each of the seven barriers of tooth brushing task was collected via questionnaires completed by parents. During the dental examination, the cooperation level according to the Frankle Index, oral hygiene status according to the Simplified Oral Hygiene Index, and caries experience (DMFT) of the students were recorded by a calibrated dentist. A psychologist assessed the level of ASD using the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM5). Data analysis including descriptive and regression analysis was done using the SPSS software version 24. RESULTS: Two hundred and seventeen students aged 7-15 years participated in this study, of whom 65.4% brushed their teeth once or more every day, 85.7% had sugary snacks twice or less per day, 73.7% used fluoridated tooth paste, and 80% brushed their teeth with parents’ help. The most common barrier to tooth brushing was difficulty in brushing (51.6%). The cooperation level was definitely positive in 46.1%. The mean Simplified Oral Hygiene Index (OHI-S) and caries experience (DMFT) scores were 1.92 ± 0.55 and 2.36 ± 2.38, respectively. CONCLUSION: The clinical indices of OHI-S and caries experience (DMFT) were used to evaluate the oral health status in the students with ASD in Tehran, Iran. A better oral hygiene status was related to higher brushing frequency and lower sweet snack consumption. The findings of the present study indicate that educational interventions regarding oral hygiene and healthy diet may improve oral self-care in individuals with ASD.
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5. Vermudez SAD, Buch A, Weiss K, Gogliotti RG, Niswender CM. Exploration of group II metabotropic glutamate receptor modulation in mouse models of Rett syndrome and MECP2 Duplication syndrome. Neuropharmacology. 2022; 209: 109022.
Rett syndrome (RTT) and MECP2 Duplication syndrome (MDS) have opposing molecular origins in relation to expression and function of the transcriptional regulator Methyl-CpG-binding protein 2 (MeCP2). Several clinical and preclinical phenotypes, however, are shared between these disorders. Modulation of MeCP2 levels has recently emerged as a potential treatment option for both of these diseases. However, toxicity concerns remain with these approaches. Here, we focus on pharmacologically modulating the group II metabotropic glutamate receptors (mGlu), mGlu(2) and mGlu(3), which are two downstream targets of MeCP2 that are bidirectionally affected in expression in RTT patients and mice (Mecp2(Null/+)) versus an MDS mouse model (MECP2(Tg1/o)). Mecp2(Null/+) and MECP2(Tg1/o) animals also exhibit contrasting phenotypes in trace fear acquisition, a form of temporal associative learning and memory, with trace fear deficiency observed in Mecp2(Null/+) mice and abnormally enhanced trace fear acquisition in MECP2(Tg1/o) animals. In Mecp2(Null/+) mice, treatment with the mGlu(2/3) agonist LY379268 reverses the deficit in trace fear acquisition, and mGlu(2/3) antagonism with LY341495 normalizes the abnormal trace fear learning and memory phenotype in MECP2(Tg1/o) mice. Altogether, these data highlight the role of group II mGlu receptors in RTT and MDS and demonstrate that both mGlu(2) and mGlu(3) may be potential therapeutic targets for these disorders.
