1. AA EM, Gomez TGB, Ravache TT, Batistuzzo A, Lorena FB, de Paula CS, Lowenthal R, Bianco AC, Ribeiro MO. Assessment of children in the autistic spectrum disorder that carry the Thr92Ala-DIO2 polymorphism. J Endocrinol Invest ;2021 (Jan 15)

INTRODUCTION : A polymorphism in the type 2 deiodinase (Thr92Ala-DIO2) gene has been associated with behavioral and cognitive dysfunction as well as neurodegeneration and oxidative stress in the central nervous system. OBJECTIVE : To test whether the minor allele (Ala92) frequency (MAF) is increased in children in the autism spectrum disorder (ASD), and whether carriers of the minor allele exhibit more severe symptoms and/or worse adaptive behavior. STUDY DESIGN : ASD children were evaluated at baseline and yearly throughout the study by psychologists using the following tools : autism behavior checklist, Vineland Adaptative Behaviour Scales II, non-verbal intelligence test SON-R 2(1/2)-7, SON-R 6-40, Weschler scale for intelligence, and autism treatment evaluation checklist. SETTINGS : Academic outpatient mental health facility in Sao Paulo, Brazil. PARTICIPANTS : ASD boys and girls younger than 18 years of age. 132 consecutive ASD children, mostly boys ( 80%) ; 50% was classified as verbal. Exclusion criteria were coexistence of sensory and/or physical impairment, or any associated genetic syndromes. RESULTS : Median follow-up was for an uninterrupted period of 937 days (139-1375 days), which did not vary significantly among the genotypes. The MAF was 47% in ASD patients vs. 51% in a local reference population with similar ethnic background ; the clinical severity and progression were not affected by the minor allele. Carriers of the minor allele exhibited higher adaptive behavior in the domains « daily living skills » and « communication », which correlated positively with the dose of the minor allele. CONCLUSION : The MAF is not different in ASD children, but carriers of the Thr92Ala-DIO2 polymorphism exhibited higher adaptive behavior.

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2. Carvajal Monroy PL, Tjoa STH, Algra H, Elhorst JH. [Using the clear aligner system in children with an autism spectrum disorder]. Ned Tijdschr Tandheelkd ;2021 (Jan) ;128(1):13-20.

Oral care for children with autism spectrum disorder requires a distinctive approach often involving a lot of effort, energy, and time. It puts the perseverance of parents and carers severely to the test. This is very recognisable to the orthodontics department of the Erasmus Medical Center. Negative experiences with conventional orthodontic appliances in this group of patients were the reason to start using the clear aligner system in January 2018. This article deals extensively with the treatment process, the advantages of the clear aligner system, and the need for an adapted, autism-friendly management style in orthodontic care for children with autism.

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3. Côté V, Lalancette È, Knoth IS, Côté L, Agbogba K, Vannasing P, Major P, Barlaam F, Michaud J, Lippé S. Distinct patterns of repetition suppression in Fragile X syndrome, down syndrome, tuberous sclerosis complex and mutations in SYNGAP1. Brain Res ;2021 (Jan 15) ;1751:147205.

Sensory processing is the gateway to information processing and more complex processes such as learning. Alterations in sensory processing is a common phenotype of many genetic syndromes associated with intellectual disability (ID). It is currently unknown whether sensory processing alterations converge or diverge on brain responses between syndromes. Here, we compare for the first time four genetic conditions with ID using the same basic sensory learning paradigm. One hundred and five participants, aged between 3 and 30 years old, composing four clinical ID groups and one control group, were recruited : Fragile X syndrome (FXS ; n = 14), tuberous sclerosis complex (TSC ; n = 9), Down syndrome (DS ; n = 19), SYNGAP1 mutations (n = 8) and Neurotypical controls (NT ; n = 55)). All groups included female and male participants. Brain responses were recorded using electroencephalography (EEG) during an audio-visual task that involved three repetitions of the pronunciation of the phoneme /a/. Event Related Potentials (ERP) were used to : 1) compare peak-to-peak amplitudes between groups, 2) evaluate the presence of repetition suppression within each group and 3) compare the relative repetition suppression between groups. Our results revealed larger overall amplitudes in FXS. A repetition suppression (RS) pattern was found in the NT group, FXS and DS, suggesting spared repetition suppression in a multimodal task in these two ID syndromes. Interestingly, FXS presented a stronger RS on one peak-to-peak value in comparison with the NT. The results of our study reveal the distinctiveness of ERP and RS brain responses in ID syndromes. Further studies should be conducted to understand the molecular mechanisms involved in these patterns of responses.

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4. Ehrhart F, Jacobsen A, Rigau M, Bosio M, Kaliyaperumal R, Laros JFJ, Willighagen EL, Valencia A, Roos M, Capella-Gutierrez S, Curfs LMG, Evelo CT. A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration. Sci Data ;2021 (Jan 15) ;8(1):10.

Rett syndrome (RTT) is a rare neurological disorder mostly caused by a genetic variation in MECP2. Making new MECP2 variants and the related phenotypes available provides data for better understanding of disease mechanisms and faster identification of variants for diagnosis. This is, however, currently hampered by the lack of interoperability between genotype-phenotype databases. Here, we demonstrate on the example of MECP2 in RTT that by making the genotype-phenotype data more Findable, Accessible, Interoperable, and Reusable (FAIR), we can facilitate prioritization and analysis of variants. In total, 10,968 MECP2 variants were successfully integrated. Among these variants 863 unique confirmed RTT causing and 209 unique confirmed benign variants were found. This dataset was used for comparison of pathogenicity predicting tools, protein consequences, and identification of ambiguous variants. Prediction tools generally recognised the RTT causing and benign variants, however, there was a broad range of overlap Nineteen variants were identified that were annotated as both disease-causing and benign, suggesting that there are additional factors in these cases contributing to disease development.

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5. Hammersmith KJ, Harlan TA, Fenning RM, Chan J, Stephenson KG, Macklin EA, Casamassimo PS, Townsend JA, Butter EM, Steinberg-Epstein RB. Correlates of oral health fatalism in caregivers of children with autism spectrum disorder. Spec Care Dentist ;2021 (Jan 15)

AIMS : To study correlates of oral health fatalism (OHF) in caregivers of children with autism spectrum disorder (ASD). METHODS AND RESULTS : This exploratory analysis used baseline data from 118 Medicaid-eligible families of children with ASD in a multi-site randomized clinical trial of a parent training intervention supporting home oral hygiene and dental visits. About half (46%) of caregivers agreed with the statement « most children eventually develop dental cavities, » endorsing OHF. Hispanic caregivers more strongly endorsed OHF than non-Hispanics (cumulative odds ratio = 2.4, 95% confidence interval [CI] : 1.2-4.7, P = .014). Caregivers living alone with children less strongly endorsed OHF than caregivers cohabitating with other adults (cumulative odds ratio = 0.39, 95% CI 0.17-0.86, P = .019). Multivariable analysis maintained significance of ethnicity (P = .030) but not living situation (P = .052). Additional analyses included demographics, parenting beliefs, and children’s oral hygiene and oral health status. CONCLUSION : About half the caregivers endorsed OHF, with Hispanic caregivers more strongly endorsing OHF. OHF was not significantly associated with oral health behaviors or status, consistent with emerging literature suggesting fatalism is not necessarily linked to health behavior. Further exploration of OHF correlates in families of children with ASD is needed ; ethnicity, living situation, child age, and caries status are of interest.

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6. Holingue C, Volk H, Crocetti D, Gottlieb B, Spira AP, Mostofsky SH. Links between parent-reported measures of poor sleep and executive function in childhood autism and attention deficit hyperactivity disorder. Sleep Health ;2021 (Jan 15)

OBJECTIVES : This study sought to assess whether poor sleep is associated with aspects of executive function (EF) among children with autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), or typical development (TD), after adjusting for demographic variables, stimulant medications, intelligence, anxiety, inattention, and hyperactivity. DESIGN : Cross-sectional. SETTING : Children recruited through ongoing studies at the Kennedy Krieger Institute. PARTICIPANTS : We studied 735 children (323 TD ; 177 ASD ; 235 ADHD) aged 8 to 12 years. MEASUREMENTS : We investigated associations of parent-reported sleep measures from the Children’s Sleep Habits Questionnaire (CSHQ) with parent-report measures of EF and performance-based processing speed with each clinical population. EF was measured using 8 clinical T scores that fall under 2 domains (behavioral regulation and metacognition) from the Behavior Rating Inventory of EF (BRIEF) and the processing speed index from the Wechsler Intelligence Scale for Children-IV or -V. RESULTS : Higher CSHQ scores were associated with poorer EF on all BRIEF scales, across all child groups, after adjustment for demographic factors, stimulant medications, and IQ. Among children with ADHD, these associations largely remained after adjusting for anxiety. Among those ASD, anxiety partially accounted for these associations, especially for behavioral regulation EF outcomes. Co-occurring symptoms of inattention and hyperactivity/impulsivity further accounted for the associations between sleep and EF. Poor sleep was not significantly associated with processing speed. CONCLUSIONS : Strong links exist between parent-reported poor sleep and executive dysfunction in children with typical development. Targeting anxiety may alleviate executive dysfunction, especially among children with ASD.

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7. Hume K, Steinbrenner JR, Odom SL, Morin KL, Nowell SW, Tomaszewski B, Szendrey S, McIntyre NS, Yücesoy-Özkan S, Savage MN. Evidence-Based Practices for Children, Youth, and Young Adults with Autism : Third Generation Review. J Autism Dev Disord ;2021 (Jan 15)

This systematic review describes a set of practices that have evidence of positive effects with autistic children and youth. This is the third iteration of a review of the intervention literature (Odom et al. in J Autism Dev Disorders 40(4):425-436, 2010a ; Prevent School Fail 54(4):275-282, 2010b ; Wong et al. in https://autismpdc.fpg.unc.edu/sites/autismpdc.fpg.unc.edu/files/imce/documents/2014-EBP-Report.pdf ; J Autism Dev Disorders 45(7):1951-1966, 2015), extending coverage to articles published between 1990 and 2017. A search initially yielded 31,779 articles, and the subsequent screening and evaluation process found 567 studies to include. Combined with the previous review, 972 articles were synthesized, from which the authors found 28 focused intervention practices that met the criteria for evidence-based practice (EBP). Former EBPs were recategorized and some manualized interventions were distinguished as meeting EBP criteria. The authors discuss implications for current practices and future research.

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8. Kaur I, Behl T, Aleya L, Rahman MH, Kumar A, Arora S, Akter R. Role of metallic pollutants in neurodegeneration : effects of aluminum, lead, mercury, and arsenic in mediating brain impairment events and autism spectrum disorder. Environ Sci Pollut Res Int ;2021 (Jan 14)

Autism spectrum disorder (ASD) is a developmental disorder of the brain characterized by shortfall in the social portfolio of an individual and abbreviated interactive and communication aspects rendering stereotypical behavior and pitfalls in a child’s memory, thinking, and learning capabilities. The incidence of ASD has accelerated since the past decade, portraying environment as one of the primary assets, comprising of metallic components aiming to curb the neurodevelopmental pathways in an individual. Many regulations like Clean Air Act and critical steps taken by countries all over the globe, like Sweden and the USA, have rendered the necessity to study the effects of environmental metallic components on ASD progression. The review focuses on the primary metallic components present in the environment (aluminum, lead, mercury, and arsenic), responsible for accelerating ASD symptoms by a set of general mechanisms like oxidative stress reduction, glycolysis suppression, microglial activation, and metalloprotein disruption, resulting in apoptotic signaling, neurotoxic effects, and neuroinflammatory responses. The effect of these metals can be retarded by certain protective strategies like chelation, dietary correction, certain agents (curcumin, mangiferin, selenium), and detoxification enhancement, which can necessarily halt the neurodegenerative effects.

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9. MA AL, Alsaqr AM. A Comparative Study of Corneal Topography in Children with Autism Spectrum Disorder : A Cross-Sectional Study. Vision (Basel) ;2021 (Jan 15) ;5(1)

PURPOSE : To investigate the corneal characteristics in individuals with autism spectrum disorder (ASD) and age-matched typical development (TD) participants. METHODS : This cross-sectional, clinically based study compared children with ASD to age-matched TD participants. Corneal topography was measured with a portable EyeSys Vista system. The distance visual acuity (VA) and the contrast sensitivity (CS) were determined. The refractive error (RE) was assessed using a 2WIN autorefractometer. RESULTS : A total of 31 children with ASD (mean age : 12.78 ± 4.49 years), and 60 participants with TD (mean age : 13.65 ± 3.56 years) were recruited. The two groups were similar in age (t = -2.084, p = 0.075) and VA (t = -0.35, p = 0.32). Most of the children with ASD had a significant amount of refractive errors (REs ; range : +5.25 to -5.50 DS), and astigmatism was dominant (range : -0.25 to -4.50 DC). There was no statistically significant difference between both groups in terms of average corneal power (t = 1.12, p = 0.39). The children with ASD and participants with TD also did not differ significantly in terms of corneal shape descriptors (p > 0.05), such as corneal asphericity, inferior superior index, opposite sector index, and differential sector index. The spherical equivalent did not differ significantly between the ASD participants and participants with TD (t = 1.15, p = 0.15). There was a significant difference (p < 0.05) in the astigmatism component between the ASD participants and the participants with TD.

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10. Nakayama Y, Adachi K, Shioda N, Maeta S, Nanba E, Kugoh H. Establishment of FXS-A9 panel with a single human X chromosome from fragile X syndrome-associated individual. Exp Cell Res ;2021 (Jan 15) ;398(2):112419.

Fragile X syndrome (FXS) is the most common inheritable form of intellectual disability. FMR1, the gene responsible for FXS, is located on human chromosome Xq27.3 and contains a stretch of CGG trinucleotide repeats in its 5′ untranslated region. FXS is caused by CGG repeats that expand beyond 200, resulting in FMR1 silencing via promoter hypermethylation. The molecular mechanism underlying CGG repeat expansion, a fundamental cause of FXS, remains poorly understood, partly due to a lack of experimental systems. Accumulated evidence indicates that the large chromosomal region flanking a CGG repeat is critical for repeat dynamics. In the present study, we isolated and introduced whole human X chromosomes from healthy, FXS premutation carriers, or FXS patients who carried disease condition-associated CGG repeat lengths, into mouse A9 cells via microcell-mediated chromosome transfer. The CGG repeat length-associated methylation status and human FMR1 expression in these monochromosomal hybrid cells mimicked those in humans. Thus, this set of A9 cells containing CGG repeats from three different origins (FXS-A9 panel) may provide a valuable resource for investigating a series of genetic and epigenetic CGG repeat dynamics during FXS pathogenesis.

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11. Paudel R, Singh S. Selection of Young Animal Models of Autism over Adult : Benefits and Limitations. Integr Psychol Behav Sci ;2021 (Jan 14)

Autism is a complex neurodevelopmental broad-spectrum disorder characterized by social interaction, and aberrant restrictive and repetitive behavior. The complex pathophysiology and unexplored drug targets make it difficult to standardize and validate the animal models of autism. The review was purposed for determining the benefits of younger animal models over adult models of autism. Similarly, animal models with respect to age, sex, body weight, number of animals used, along with autism inducing agents have been reviewed in this article. The differentiation of behavioral parameters has shown the benefits in the selection of younger animal models. Thus, we conclude that young and adolescence animal models of autism will be supporting for early detection and interventions with significant results.

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12. Rumball F, Brook L, Happé F, Karl A. Heightened risk of posttraumatic stress disorder in adults with autism spectrum disorder : The role of cumulative trauma and memory deficits. Res Dev Disabil ;2021 (Jan 15) ;110:103848.

BACKGROUND : Individuals with Autism Spectrum Disorder (ASD) are known to be at increased risk of exposure to traumas such as maltreatment and abuse, however less is known about possible susceptibility towards the development of Posttraumatic Stress Disorder (PTSD) and associated risk factors. AIMS : This study investigated the rates of trauma exposure and PTSD, and the role of cumulative trauma exposure and memory as risk factors for PTSD in adults who self-reported having received an ASD diagnosis, compared to a typically developing (TD) comparison group. METHODS : Questionnaires assessing self-reported frequency of trauma exposure (LEC), PTSD symptomology (PCL-S) and memory (EMQ- R and BRIEF-A) were completed online by 38 ASD adults and 44 TD adults. RESULTS : Rates of trauma exposure and PTSD symptomatology were significantly higher in the ASD group, compared to the TD group, with deficits in working memory and everyday memory mediating this association. Interestingly, a cumulative effect of trauma exposure on PTSD symptom severity was only found in the ASD group. CONCLUSIONS : High rates of trauma and probable PTSD in ASD adults highlight the importance of routine screening. Cumulative trauma exposure and memory deficits may act to increase risk of PTSD in ASD ; longitudinal research is called for.

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13. Stephenson KG, Beck JS, South M, Norris M, Butter E. Validity of the WISC-V in Youth with Autism Spectrum Disorder : Factor Structure and Measurement Invariance. J Clin Child Adolesc Psychol ;2021 (Jan 15):1-13.

Objective : Assessment of intellectual abilities in individuals with autism spectrum disorder (ASD) is a core component of a comprehensive diagnostic evaluation. However, relatively limited information is available regarding the validity of one of the most commonly-used measures of intelligence, the Wechsler Intelligence Scale for Children – 5th Edition (WISC-V) in ASD. Method : We investigated the factor structure and measurement invariance of the WISC-V in a sample of 349 children aged 6-16 diagnosed with ASD using single- and multi-group confirmatory factor analysis. The comparison group was the WISC-V standardization sample. Results : A four-index bifactor solution best fit the ASD group data. Measurement invariance analyses indicated support for configural and metric, but not scalar, invariance of the published 5-index structure, suggesting systematic differences in performance among some subscales in ASD. The 7-subtest FSIQ scale had partial scalar invariance after relaxing equality constraints on the Coding and Digit Span subtest intercepts, suggesting sources other than theorized IQ ability contribute to lower scores on these subtests within ASD. The Cognitive Proficiency Index (CPI) failed to demonstrate appropriate fit in baseline models. The General Ability Index (GAI) had full configural, metric, and scalar invariance. Conclusions : Statistical bias on the WISC-V within ASD in processing speed and working memory subtests creates significant limitations for the use of FSIQ and especially CPI index scores in ASD populations. The GAI showed strong measurement properties and should be considered as the preferred indicator of overall intellectual functioning when assessing children with ASD using the WISC-V.

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14. Tavares FDS, Azevedo YJ, Fernandes L, Takeuti A, Pereira LV, Ledesma ALL, Bahmad F, Jr. Cochlear implant in patients with autistic spectrum disorder-a systematic review. Braz J Otorhinolaryngol ;2021 (Jan 2)

INTRODUCTION : In cases of autism spectrum disorders with severe to profound hearing loss, cochlear implant is a therapeutic option. OBJECTIVE : To identify evidence in the scientific literature that the cochlear implant brings benefits to people with autism spectrum disorders with associated hearing loss. METHODS : Systematic review of the literature based on the criteria recommended by PRISMA. The population, intervention, comparison, outcomes, study design, PICOS strategy, was used to define the eligibility criteria. The studies that met the inclusion criteria for this second stage were included in a qualitative synthesis. Each type of study was analyzed according to the Joanna Briggs Institute’s risk of bias assessment through the critical checklist for cohort studies, prevalence studies and critical criteria and case reports. RESULTS : Four hundred and eighty-four articles were found in eight databases and 100 in the gray literature, mentioning the relationship between cochlear implants in patients with autism spectrum disorder and hearing loss. Twelve articles were read in full and 7 were selected for qualitative analysis in this systematic review. All seven articles were analyzed on the critical evaluation checklist. Four articles had a low risk of bias and three articles had a moderate risk of bias. In this study, were included 66 patients with autism spectrum disorder and hearing loss who received cochlear implant. CONCLUSION : This systematic review indicates that a cochlear implant can bring benefits to autism spectrum disorder patients with associated deafness.

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15. Uddin LQ. Brain Mechanisms Supporting Flexible Cognition and Behavior in Adolescents With Autism Spectrum Disorder. Biol Psychiatry ;2021 (Jan 15) ;89(2):172-183.

Cognitive flexibility enables appropriate responses to a changing environment and is associated with positive life outcomes. Adolescence, with its increased focus on transitioning to independent living, presents particular challenges for youths with autism spectrum disorder (ASD) who often struggle to behave in a flexible way when faced with challenges. This review focuses on brain mechanisms underlying the development of flexible cognition during adolescence and how these neural systems are affected in ASD. Neuroimaging studies of task switching and set-shifting provide evidence for atypical lateral frontoparietal and midcingulo-insular network activation during cognitive flexibility task performance in individuals with ASD. Recent work also examines how intrinsic brain network dynamics support flexible cognition. These dynamic functional connectivity studies provide evidence for alterations in the number of transitions between brain states, as well as hypervariability of functional connections in adolescents with ASD. Future directions for the field include addressing issues related to measurement of cognitive flexibility using a combination of metrics with ecological and construct validity. Heterogeneity of executive function ability in ASD must also be parsed to determine which individuals will benefit most from targeted training to improve flexibility. The influence of pubertal hormones on brain network development and cognitive maturation in adolescents with ASD is another area requiring further exploration. Finally, the intriguing possibility that bilingualism might be associated with preserved cognitive flexibility in ASD should be further examined. Addressing these open questions will be critical for future translational neuroscience investigations of cognitive and behavioral flexibility in adolescents with ASD.

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16. Vigli D, Cosentino L, Pellas M, De Filippis B. Chronic Treatment with Cannabidiolic Acid (CBDA) Reduces Thermal Pain Sensitivity in Male Mice and Rescues the Hyperalgesia in a Mouse Model of Rett Syndrome. Neuroscience ;2021 (Jan 15) ;453:113-123.

Rett syndrome (RTT) is a rare neurologic disorder, characterized by severe behavioural and physiological symptoms. RTT is caused by mutations in the MECP2 gene in about 95% of cases and to date no cure is available. Recent evidence suggests that non-euphoric phytocannabinoids (pCBs) extracted from Cannabis sativa may represent innovative therapeutic molecules for RTT, with the cannabinoid cannabidivarin having beneficial effects on behavioural and brain molecular alterations in RTT mouse models. The present study evaluated the potential therapeutic efficacy for RTT of cannabidiolic acid (CBDA ; 0.2, 2, 20 mg/kg through intraperitoneal injections for 14 days), a pCB that has proved to be effective for the treatment of nausea and anxiety in rodents. This study demonstrates that systemic treatment with the low dose of CBDA has anti-nociceptive effects and reduces the thermal hyperalgesia in 8 month-old MeCP2-308 male mice, a validated RTT mouse model. CBDA did not affect other behavioural or molecular parameters. These results provide support to the antinociceptive effects of CBDA and stress the need for further studies aimed at clarifying the mechanisms underlying the abnormal pain perception in RTT.

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17. Yu X, Qian-Qian L, Cong Y, Xiao-Bing Z, Hong-Zhu D. Reduction of essential amino acid levels and sex-specific alterations in serum amino acid concentration profiles in children with autism spectrum disorder. Psychiatry Res ;2020 (Dec 24) ;297:113675.

BACKGROUND : Existing evidence has shown that metabolic disturbances may be involved in the pathological process of autism spectrum disorder(ASD). This study aimed to investigate the alterations of serum amino acid concentration profiles in Chinese Han children with ASD. METHODS : Serum amino acid levels were measured using tandem mass spectrometry in 60 children with ASD and 30 typically developing (TD) controls. The Chinese Wechsler Young Children Scale of Intelligence (C-WYCSI) was used to evaluate the ASD subjects’ intelligence quotient (IQ). RESULTS : The serum levels of essential amino acids and some non-essential amino acids (glutamine, glycine, alanine, citrulline, cysteine, serine, tyrosine, and proline) in the ASD group were significantly lower than those in controls. The serum glutamate/glutamine (Glu/Gln) ratio was elevated in the ASD PIQ≥70 group, while serum levels of alanine, cysteine, phenylalanine, methionine and proline were significantly higher in male children with ASD than that in the female group. CONCLUSION : The study revealed that children with ASD exhibit alterations in the serum levels of certain amino acids, and the divergence can be sex-related or associated with different cognitive function, which might provide clues for further etiological research of ASD.

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