Pubmed du 09/09/21
1. Al-Zaid FS, Alhader AFA, Al-Ayadhi LY. A potential role for the adrenal gland in autism. Scientific reports. 2021; 11(1): 17743.
Androgens have been implicated in autism pathophysiology as recently, prenatal exposure to elevated androgens has been proposed as risk factor. However, published data on postnatal sex hormone levels in autistic children are controversial and the source of prenatal androgen exposure in autism remains unknown. Therefore, this study investigated postnatal sex hormone levels and dehydroepiandrosterone (DHEA) to shed light on a potential role for the adrenal gland in autism pathophysiology. A case-control study investigating estradiol (E2), DHEA, follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels was conducted with 31 Saudi males with autism and 28 healthy, age-matched boys plasma. Moreover, correlation analysis with measured hormones and previously measured total testosterone (TT) and free testosterone (FT) in the same group of autism was conducted. DHEA was significantly higher (p < 0.05) in the autism group compared to controls. DHEA positively correlated with previously measured TT (r = + 0.79, p < 0.001) and FT (r = + 0.72, p < 0.001) levels in the same autism group. FSH levels were also significantly higher in the autism group than in the control group (p < 0.01). To the best of our knowledge, this is the first study to report a strong positive correlation between TT, FT and DHEA, suggesting an adrenal source for elevated androgen levels.
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2. Castilho LS, Diniz IMA, Santos B, Lages FS, Cruz A, Abreu M. Carious lesions recurrence in children with developmental disabilities: a longitudinal study. Brazilian oral research. 2021; 35: e071.
This study investigated the factors associated with new carious lesions in one-to five-year-old children with developmental disabilities. This was a retrospective cohort that evaluated 64 dental charts of individuals with caries or fillings in their first dental appointment. The dependent variable was the occurrence of a new carious lesion or restoration. Gender, age, mother’s education, sugar consumption, oral hygiene, mouth breathing, reports of xerostomia, gingival status, use of psychotropic drugs, use of asthma drugs, history of asthma, bronchitis, reflux or seizures and having at least one sibling were covariates. Cox proportional hazards regression model was used to estimate the raw and adjusted hazard ratios with their respective 95% confidence interval. The average time that individuals remained free of dental caries/restoration was 79.49 months (95%CI: 64.37 to 92.61). Increase in sucrose consumption increased the rate of caries recurrence (HR = 1.16; 95%CI: 1.04 to 1.30). Individuals who had poor oral hygiene had higher rate of new dental caries (HR = 3.88; 95%CI: 1.22 to 12.37) compared to those with good oral hygiene. The presence of mouth breathing decreased the rate of recurrence of the disease when compared to the nasal breathing (HR = 0.32; 95%CI: 0.15 to 0.70). Oral health-related behaviors and nasal respiration influenced the rate of dental caries recurrence in individuals with developmental disabilities.
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3. Cossette-Côté F, Bussières EL, Dubois-Comtois K. The association between maternal sensitivity/availability and attachment in children with autism Spectrum disorder: A systematic review and Meta-analysis. Current psychology (New Brunswick, NJ). 2021: 1-13.
The association between maternal sensitivity and attachment security has long been established among normative samples. However, less is known about how this association operates among children with Autism Spectrum Disorder (ASD). This meta-analytic review is the first to address the association between maternal sensitivity/availability and attachment security in a population of children with ASD (aged 1 to 7 years) and to explore if this association is moderated by child chronological age, mental age, ASD-related symptoms severity. The objective was also to assess the role of methodological moderators, including the informant of the attachment measure, country and publication year. A systematic search was performed on relevant databases. Seven studies were retained. Meta-analytic results showed a significant medium effect size between maternal sensitivity/availability and attachment security in children with ASD (r = .47; 95% CI: 0.32-.60; p < .001), which is a stronger association than in the general population (r = .24). Moderation analyses did not show any significant effect of child chronological age and publication year on effect sizes. The categorical moderators (e.g., informant, country) could not be tested due to the limited number of studies. More research is needed to better understand the way mothers adapt to their children with autism and identify the nuances regarding how maternal sensitivity/availability relates to child attachment in the context of ASD. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12144-021-02227-z.
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4. Freitas NF, Nunes C, Rodrigues TM, Valadares GC, Alves FL, Leal CRV, Luz N, Rabello MO, Machado MGP, Bouzada MCF. Neuropsychomotor development in children born preterm at 6 and 12 months of corrected gestational age. Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo. 2021; 40: e2020199.
OBJECTIVE: To assess the incidence of neuropsychomotor developmental delay at 6 and 12 months of corrected gestational age in children born at 32 gestational weeks or less. METHODS: A descriptive and prospective study was carried out at two public maternity hospitals. Between April 2017 and January 2019, we assessed 133 children without any known risk factors for neuropsychomotor developmental delay. The Bayley III scale was used to evaluate cognitive and motor development. The p value of the numerical variables was calculated using the Mann-Whitney test, whereas proportions of categorical variables were compared using the Z-test. RESULTS: The mean maternal age was 26±6.9 years,78.8% were from middle and lower economic classes, and 57.1% of the analyzed children were female. Children presented with a higher incidence of delay at 12 months than at 6 months (10.3 and 2.3% at 12 and 6 months, respectively, for the cognitive score; 22.7 and 12% at 12 and 6 months, respectively, for the composite motor score; and 24.7 and 8.4% at 12 and 6 months, respectively, for the fine motor score). CONCLUSIONS: Cognitive and motor developmental delays were significant, with the highest incidence at 12 months. The results of this study encourage further research on this topic, since the exclusion criteria were comprehensive and the delays in neuropsychomotor development were significant. Publisher: Abstract available from the publisher. por.
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5. Harding SM, Masters EC, D’Agata CM, Agudelo Rivera AC, Smith EC. Prenatal exposure to valproic acid and treatment with intranasal oxytocin have sex-specific effects on behavior in Long Evans rats. Behavioural pharmacology. 2021; 32(7): 561-70.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social behaviors and communication. In rodents and humans, prenatal exposure to antiepileptic valproic acid is associated with an increased risk for autistic-like characteristics. One potential treatment is oxytocin, a prosocial neuropeptide that can be delivered intranasally. However, the sex-specific effects of valproic acid exposure and intranasal oxytocin treatment on behavior have not been fully explored. Pregnant Long Evans rats were administered valproic acid (500 mg/kg) or saline midday on gestational day 12, and after weaning, male and female pups were assigned to control (saline-saline), valproic acid-saline, or valproic acid-oxytocin groups. Oxytocin (0.8 IU/kg) or saline was delivered intranasally 30-60 min before tests for anxiety-like behaviors (elevated plus maze), social interactions (sociability) and sociosexual behaviors (partner preference, 50 kHz vocalizations and scent marking). Prenatal exposure to valproic acid resulted in sex-specific differences in behavior. When compared to controls, valproic acid males showed enhanced anxiety-like behaviors in adolescence and fewer scent marks in adulthood, while valproic acid females showed reduced sexual (partner) preference as adults. Intranasal oxytocin was anxiolytic for valproic acid males, but moderately anxiogenic for valproic acid females, and in both sexes it surprisingly impaired social interactions in the sociability test. Furthermore, intranasal oxytocin failed to improve sociosexual deficits in valproic acid rats. These findings highlight the importance of conducting preclinical studies in both sexes, and suggest that oxytocin may be an effective treatment in animal models with heightened anxiety-like behaviors.
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6. Milla BM. Loss of MeCP2 increases GABA uptake by astrocytes to suppress tonic inhibition of CA1 pyramidal neurons. Journal of neurophysiology. 2021; 126(4): 1310-3.
Rett syndrome (RTT) is a neurodevelopmental disorder characterized a spectrum of phenotypes affecting neuronal and glial populations. Recent work by Dong et al. (Dong Q, Kim J, Nguyen L, Bu Q, Chang Q. J Neurosci 40: 6250-6261, 2020) suggests that augmented GABA uptake by astrocytes diminishes tonic inhibition in the hippocampus and contributes to increased seizure propensity in RTT. Here, I will review evidence supporting this possibility and critically evaluate how increased expression of a GABA transporter might contribute to this mechanism.
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7. Olsen JE, Lee KJ, Spittle AJ, Anderson PJ, Doyle LW, Cheong JLY. The causal effect of being born extremely preterm or extremely low birthweight on neurodevelopment and social-emotional development at 2 years. Acta paediatrica (Oslo, Norway : 1992). 2022; 111(1): 107-14.
AIM: To assess the causal effect of being born extremely preterm (EP; <28 weeks' gestation) or extremely low birthweight (ELBW; <1000 g), compared with being born at term, on neurodevelopment and social-emotional development at 2 years' corrected age. METHODS: Prospective geographical cohort study of children born EP/ELBW over 12 months in 2016 from Victoria, Australia, and term-born controls. Children were assessed at 2 years' corrected age with the Bayley Scales of Infant and Toddler Development-3rd edition and the Infant-Toddler Social and Emotional Assessment. Delay was defined as <-1 standard deviation relative to the mean of controls. The estimand of interest was the mean difference/odds ratio (OR) between the EP/ELBW and control groups estimated using linear/logistic regression, adjusted for multiple pregnancy and social risk. RESULTS: A total of 205 EP/ELBW and 201 controls were assessed at 2 years. Delay/concerns were more common in the EP/ELBW group compared with controls, for cognitive (OR 3.7 [95% confidence interval 2.3, 6.0]), language (5.3 [3.1, 9.0]) and motor (3.9 [2.3, 6.3]) development, and social-emotional competence (4.1 [1.6, 10.2]). CONCLUSION: Being born EP/ELBW has an adverse effect on cognitive, language and motor development, and social-emotional competence at 2 years' corrected age. Close developmental surveillance, including social-emotional development, is recommended.
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8. Pearson A, Woods R, Morgan H, Botha M. Creating truly radical change in autism research: A response to Frith and Mottron. Autism research : official journal of the International Society for Autism Research. 2021; 14(10): 2243-4.
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9. Posar A, Visconti P. Update about « minimally verbal » children with autism spectrum disorder. Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo. 2021; 40: e2020158.
OBJECTIVE: To review clinical and neurobiological features of minimally verbal children with autism spectrum disorder. DATA SOURCE: We carried out a narrative review using the PubMed database. We considered the following search terms combined through the Boolean operator « AND »: « autism spectrum disorder »; « minimally verbal. » DATA SYNTHESIS: To date, there is no shared definition of minimally verbal children with autism spectrum disorder. The heterogeneity in intellectual functioning and in linguistic abilities among these individuals suggests there is no single mechanism underlying their difficulties in learning to speak. However, the reasons why these children do not speak and the biological markers that can identify them are still unknown. Language impairment in these children can lead to several unfavorable consequences, including behavior problems (such as self-aggression, hetero-aggression, and property destruction), poorer daily living and social skills. Psychiatric comorbidities (including attention deficit/hyperactivity disorder, specific phobias, and compulsions) consist in a serious problem related to the lack of verbal language in individuals with autism spectrum disorder. Although in the literature there are very few evidence-based results, several findings suggest that an alternative and augmentative communication intervention, creating an extra-verbal communication channel, may be effective in these individuals. CONCLUSIONS: The exact definition, clinical characteristics, associated disorders, etiology, and treatment of minimally verbal subjects with autism spectrum disorder must still be further studied and understood. Publisher: Abstract available from the publisher. por.
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10. Posserud MB, Skretting Solberg B, Engeland A, Haavik J, Klungsøyr K. Male to female ratios in autism spectrum disorders by age, intellectual disability and attention-deficit/hyperactivity disorder. Acta psychiatrica Scandinavica. 2021; 144(6): 635-46.
OBJECTIVE: To examine the gender distribution in ASD in adults compared with children and the impact of comorbid intellectual disability (ID) and attention-deficit/hyperactivity disorder (ADHD) on the male to female ratio (MFR). METHODS: We estimated the MFR and the male prevalence ratio (PR) for ASD in adults and children using the Medical Birth Registry of Norway, including all individuals born during 1967-2011. We examined variation with age, comorbid ID and ADHD as defined by diagnoses in the Norwegian Patient Registry during 2008-2015 and/or a dispensed prescription for ADHD medication. RESULTS: The sample included 1,701,206 adults and 804,146 children, including 8,995 (0.5%) adults and 8,056 (1.0%) children with ASD, 53,822 (3.2%) adults and 26,967 (3.4%) children with ADHD and 9,178 (0.5%) adults and 5,038 (0.6%) children with ID. The MFR for ASD was 3.67 in children and 2.57 in adults, corresponding to a male PR in ASD of 1.54 (95% CI 1.53-1.56) and 1.41 (1.39-1.24), respectively. Comorbid ID decreased the MFR and the male PR in both adults and children, whereas comorbid ADHD significantly increased the male PR in children. The MFR and the population prevalence of ASD, ADHD and ID decreased from children to younger adults and yet further to older adults. CONCLUSION: We found a lower MFR and male PR in adults than in children. Findings suggest the strong male predominance seen in childhood/clinical studies of ASD diminishes in adult samples, possibly reflecting the influence of non-aetiological factors such as later diagnosis in females, diagnostic biases and diagnostic trends.
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11. Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O’Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J. Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome. Scientific reports. 2021; 11(1): 18146.
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12. Vinckier F, Pessiglione M, Forgeot d’Arc B. Absence of covert face valuation in Autism. Translational psychiatry. 2021; 11(1): 463.
Autism is a neurodevelopmental condition defined on clinical criteria related to diminished social reciprocity and stereotyped behavior. An influential view explains autism as a social motivation disorder characterized by less attention paid to the social environment and less pleasure experienced with social rewards. However, experimental attempts to validate this theory, by testing the impact of social reward on behavioral choice and brain activity, has yielded mixed results, possibly due to variations in how explicit instructions were about task goals. Here, we specified the putative motivation deficit as an absence of spontaneous valuation in the social domain, unexplained by inattention and correctible by explicit instruction. Since such deficit cannot be assessed with behavioral measures, we used functional neuroimaging (fMRI) to readout covert subjective values, assigned to social and nonsocial stimuli (faces and objects), either explicitly asked to participants (during a likeability judgment task) or not (during age or size estimation tasks). Value-related neural activity observed for objects, or for faces under explicit instructions, was very similar in autistic and control participants, with an activation peak in the ventromedial prefrontal cortex (vmPFC), known as a key node of the brain valuation system. The only difference observed in autistic participants was an absence of the spontaneous valuation normally triggered by faces, even when they were attended for age estimation. Our findings, therefore, suggest that in autism, social stimuli might fail to trigger the automatic activation of the brain valuation system.
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13. Zhang Y, Lu Q, Ye Y, Huang K, Liu W, Wu Y, Zhong X, Li B, Yu Z, Travers BG, Werling DM, Li JJ, Zhao H. SUPERGNOVA: local genetic correlation analysis reveals heterogeneous etiologic sharing of complex traits. Genome biology. 2021; 22(1): 262.
Local genetic correlation quantifies the genetic similarity of complex traits in specific genomic regions. However, accurate estimation of local genetic correlation remains challenging, due to linkage disequilibrium in local genomic regions and sample overlap across studies. We introduce SUPERGNOVA, a statistical framework to estimate local genetic correlations using summary statistics from genome-wide association studies. We demonstrate that SUPERGNOVA outperforms existing methods through simulations and analyses of 30 complex traits. In particular, we show that the positive yet paradoxical genetic correlation between autism spectrum disorder and cognitive performance could be explained by two etiologically distinct genetic signatures with bidirectional local genetic correlations.
