Pubmed du 11/08/19

dimanche 11 août 2019

1. Bai Z, Kong X. [X-linked mental retardation combined with autism caused by a novel hemizygous mutation of GRIA3 gene]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi ;2019 (Aug 10) ;36(8):829-833.

OBJECTIVE : To explore the genetic basis for a family affected with mental retardation combined with autism. METHODS : For the family featuring X-linked recessive inheritance of mental retardation combined with autism, clinical data and peripheral blood samples were collected. Potential mutations of genes associated with intellectual impairment were sequenced with an Ion PGM platform. Suspected mutations were verified with a PCR-Sanger sequencing method. RESULTS : The patient with mental retardation had mild abnormal electroencephalograph(EEG), while brain MRI and CT scans showed no obvious abnormality. Two ABC (autism behavior checklist) testing scores were 73 and 66 when he was 7- and 13-year-old, respectively. A novel hemizygous mutation, c.64C>T (p.L22F), was detected in the GRIA3 gene in the patient, for which his mother was a heterozygous carrier. The mutation site was predicted to be possibly damaging and disease causing by PolyPhen_2 and MutationTaster. CONCLUSION : The novel hemizygous c.64C>T (p.L22F) mutation of the GRIA3 gene probably underlies the phenotypes of mental retardation combined with autism in this family. Considering the variable clinical manifestation of mental retardation and genetic heterogeneity of autism, genetic testing is essential for making the correct diagnosis.

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2. Cage E, Burton H. Gender Differences in the First Impressions of Autistic Adults. Autism Res ;2019 (Aug 9)

Prior research has shown that less favourable first impressions are formed of autistic adults by non-autistic observers. Autistic females may present differently to autistic males and could engage in more camouflaging behaviours, which could affect these first impressions. However, research has not yet tested for gender differences in the first impressions of autistic adults. In the current study, non-autistic observers (n = 205) viewed either 10-sec video clips or text transcripts in the context of a mock job interview by 10 autistic females and 10 autistic males, matched to 10 non-autistic females and 10 non-autistic males. They then rated each stimulus on personality traits (e.g., awkwardness) and behavioural intentions (e.g., "I would start a conversation with this person"). Non-autistic observers were blind to diagnostic status of the individuals in either modality. Results showed that first impressions were less favourable overall of autistic adults in the video modality. Furthermore, autistic females were rated more favourably than autistic males in the video modality across most traits-but autistic females were also rated less favourably than both non-autistic females and males. Some judgements were also made in the text modality, whereby more favourable first impressions were made of autistic males on the basis of speech content. Understanding the first impressions that both autistic females and males make has important implications for diagnostic services and employment prospects. Autism Res2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : We found that non-autistic people formed more negative first impressions of autistic people, and this was influenced by gender of the person being evaluated. Autistic women were judged more favourably than autistic men ; however, both autistic women and men were rated less positively than non-autistic people, with large differences between judgements of autistic females in comparison to non-autistic females. The findings have implications for clinicians and employers who may make rapid judgements based on someone’s gender.

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3. Field M, Dudding-Byth T, Arpone M, Baker EK, Aliaga SM, Rogers C, Hickerton C, Francis D, Phelan DG, Palmer EE, Amor DJ, Slater H, Bretherton L, Ling L, Godler DE. Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing. Int J Mol Sci ;2019 (Aug 11) ;20(16)

Although fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with >/=200 cytosine-guanine-guanine (CGG) repeats, and a decrease in FMR1 mRNA and its protein (FMRP), incomplete silencing has been associated with more severe autism features in FXS males. This study reports on brothers (B1 and B2), aged 5 and 2 years, with autistic features and language delay, but a higher non-verbal IQ in comparison to typical FXS. CGG sizing using AmplideX PCR only identified premutation (PM : 55-199 CGGs) alleles in blood. Similarly, follow-up in B1 only revealed PM alleles in saliva and skin fibroblasts ; whereas, an FM expansion was detected in both saliva and buccal DNA of B2. While Southern blot analysis of blood detected an unmethylated FM, methylation analysis with a more sensitive methodology showed that B1 had partially methylated PM alleles in blood and fibroblasts, which were completely unmethylated in buccal and saliva cells. In contrast, B2 was partially methylated in all tested tissues. Moreover, both brothers had FMR1 mRNA 5 fold higher values than those of controls, FXS and PM cohorts. In conclusion, the presence of unmethylated FM and/or PM in both brothers may lead to an overexpression of toxic expanded mRNA in some cells, which may contribute to neurodevelopmental problems, including elevated autism features.

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4. Grandisson M, Rajotte E, Godin J, Chretien-Vincent M, Milot E, Desmarais C. Autism spectrum disorder : How can occupational therapists support schools ?. Can J Occup Ther ;2019 (Aug 11):8417419838904.

BACKGROUND. : Children with autism spectrum disorder (ASD) face multiple occupational challenges in their school, and school staff need additional support to increase their participation. PURPOSE. : The aim of this study is to identify how Response to Intervention (RTI) could be used by occupational therapists to support school personnel who work with children with ASD. METHOD. : In a descriptive qualitative study, three discussion groups were undertaken with occupational therapists and school staff members in Quebec, Canada, to identify the main concerns regarding the participation of children with ASD in school activities as well as the actions to consider when attempting to increase school-related abilities. FINDINGS. : School staff members are primarily concerned with frequent outbursts and limited autonomy, along with low motivation and anxiety in children with ASD in diverse school activities and contexts. The actions identified provide guidelines for school and occupational therapist selection, the process to follow, collaborative practices, and support required. IMPLICATIONS. : A practice model is presented for occupational therapists who seek to develop school capacity to support the participation of children with ASD.

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5. Panjwani AA, Ji Y, Fahey JW, Palmer A, Wang G, Hong X, Zuckerman B, Wang X. Maternal Obesity/Diabetes, Plasma Branched-Chain Amino Acids, and Autism Spectrum Disorder Risk in Urban Low-Income Children : Evidence of Sex Difference. Autism Res ;2019 (Aug 9)

Maternal metabolic conditions are known risk factors for child autism spectrum disorder (ASD). Branched-chain amino acids (BCAAs) are also associated with ASD. We examined the joint associations of maternal metabolic conditions and BCAAs on the risk of child ASD and whether the associations differed by child’s sex. We analyzed 789 mother-infant pairs, a subset of the Boston Birth Cohort, from a predominantly urban, low-income, minority population. Maternal plasma BCAAs were measured by liquid chromatography-tandem mass spectrometry in samples collected 24-72 hr postpartum. A composite BCAA score was created using factor analysis, and prepregnancy obesity and diabetes (ob/DM) were combined into one variable. Logistic regression was used to explore the role of BCAAs as mediators or cofactors with ob/DM and child’s sex on ASD risk. BCAA-ob/DM and BCAA-sex interactions were also examined. Maternal BCAAs alone were not associated with ASD and did not mediate the path between ob/DM and ASD. In the presence of maternal ob/DM, BCAA score was significantly associated with ASD (adjusted OR 2.33, 95% CI 1.18, 4.60). Interactions were present for valine with ob/DM and for valine and isoleucine with male sex on ASD risk. The odds ratio (OR) for risk of ASD was the greatest with all three risk factors combined-male sex, above median BCAA score, and ob/DM (OR 10.79, 95% CI 4.40, 26.42). Similar patterns were found for other developmental disorders, though not as strong as for ASD. Additional studies are warranted to clarify the role of maternal BCAAs, ob/DM, and child’s sex in ASD. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : This study investigated whether maternal obesity/diabetes and maternal circulating branched-chain amino acids (BCAAs) can jointly affect child ASD risk and whether the associations differ by child’s sex. We found that the risk of ASD was greater among mothers with obesity/diabetes who also had elevated concentrations of BCAAs and that this risk was even greater for male children. These findings provide new evidence on fetal origins of ASD and sex difference and warrant additional investigation.

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6. Su YE, Naigles LR. Online Processing of Subject-Verb-Object Order in a Diverse Sample of Mandarin-Exposed Preschool Children with Autism Spectrum Disorder. Autism Res ;2019 (Aug 11)

Grammatical comprehension remains a strength in English-exposed young children with autism spectrum disorder (ASD), yet limited research has investigated how preschool children with ASD process grammatical structures in real time, in any language. Using the eye-movement measures of Intermodal Preferential Looking, we assessed online processing of subject-verb-object (SVO) order in seventy 2- to 5-year-old children with ASD exposed to Mandarin Chinese across the spectrum, whose vocabulary production scores were dramatically delayed compared with the typical controls. With this Mandarin-exposed sample, we tested the extent to which children with ASD require (a) highly consistent input and/or (b) good discourse/pragmatics for acquiring grammatical structures. Children viewed side-by-side videos depicting reversible actions (e.g., a bird pushing a horse vs. a horse pushing a bird), and heard an audio matching only one of those actions ; their eyegaze to each video was coded and analyzed. Both typically developing children and children with ASD demonstrated comprehension of SVO word order, suggesting that core grammatical structures such as basic word order may be preserved in children with ASD across languages despite radical differences in language environment, social/pragmatic abilities, and neurological organization. However, children with ASD were less efficient in online sentence processing than typical children, and the efficiency of their online sentence processing was related to their standardized language assessment scores. Of note is that across both Mandarin Chinese and English, some proportion of minimally verbal children with ASD exhibited SVO comprehension despite their profoundly impaired expressive language skills. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Grammar is a strength in the language comprehension of young English learners with autism spectrum disorder (ASD). Eye-movement data from a diverse sample of Chinese preschoolers with ASD indicated similar grammatical strength of basic word order in Chinese (e.g., to understand sentences like "The bird is pushing the horse"). Moreover, children’s proficiency of sentence processing was related to their language assessment scores. Across languages, such knowledge is even spared in some minimally verbal children with ASD.

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