Pubmed du 18/05/19

samedi 18 mai 2019

1. Booules-Katri TM, Pedreno C, Navarro JB, Pamias M, Obiols JE. Theory of Mind (ToM) Performance in High Functioning Autism (HFA) and Schizotypal-Schizoid Personality Disorders (SSPD) Patients. J Autism Dev Disord. 2019.

The similarities between high functioning autism (HFA) and schizotypal-schizoid personality disorder (SSPD) in terms of social cognition and interpersonal deficits may lead to confusion in symptom interpretation, and consequently result in misdiagnosis. Thus, this study aims to investigate differences in mentalizing with particular interest on the socio-cognitive and socio-affective dimensions. Three Advanced Theory of Mind (ToM) tests were applied in 35 patients with HFA, 30 patients with SSPD and 36 healthy controls. Individuals with HFA showed greater impairment and no dissociation between affective and cognitive ToM components. Conversely, SSPD individuals displayed less difficulties but greater impairments on the cognitive component. Beyond the replicability of ToM impairment in HFA individuals, our findings suggest more impaired cognitive ToM in SSPD participants which further support the sequence of mentalizing development build upon different chronological stages.

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2. Cohen SR, Miguel J, Wishard Guerra A. Child-rearing routines among Mexican-heritage children with autism spectrum disorder. Autism. 2019 : 1362361319849244.

This study examined the daily routines and activities of Mexican-heritage mothers and their children with autism spectrum disorder. Experienced sampling methods were used to capture families’ current daily routines and activities, how parents valued those activities, and whether the activity was part of the child’s autism spectrum disorder intervention. A total of 32 mothers were texted five times per day over five consecutive days for a total of 721 observations. Mothers frequently engaged in Self-Care (e.g. showering), General Caregiving (e.g. cooking), and House Chores (e.g. laundry). Children engaged in activities in which interventions could easily be integrated (e.g. Academics, Self-Care, and Playing with Others). Families spent less than one-third (26.1%) of their activities participating in interventions. Mothers and children jointly spent time in General Caregiving, Playing with Others, and Using Electronics. Practitioners should focus on integrating evidence-based interventions into daily joint routine activities.

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3. Hilvert E, Davidson D, Scott CM. An In-Depth Analysis of Expository Writing in Children With and Without Autism Spectrum Disorder. J Autism Dev Disord. 2019.

Using detailed linguistic analysis, this study examined the expository writing abilities of school-age children with autism spectrum disorder (ASD) in comparison to neurotypical (NT) children. Associations between executive functioning (EF) and writing ability in children with and without ASD were also explored. Compared to NT peers, children with ASD wrote shorter expository texts that contained more grammatical errors, and needed more assistance from the experimenter to complete the writing assessment. However, the texts of children with and without ASD did not differ in their lexical diversity, use of writing conventions, and overall quality. Analyses also revealed that greater EF was associated with better writing outcomes in both groups. Educational implications of these findings are discussed.

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4. Lahbib S, Trabelsi M, Dallali H, Sakka R, Bourourou R, Kefi R, Mrad R, Abdelhak S, Gaddour N. Novel MED12 variant in a multiplex Fragile X syndrome family : dual molecular etiology of two X-linked intellectual disabilities with autism in the same family. Molecular biology reports. 2019.

Studies of X-linked pedigrees were the first to identify genes implicated in intellectual disability (ID) and autism spectrum disorder (ASD). However, some pedigrees present a huge clinical variability between the affected members. This intrafamilial heterogeneity may be due to cooccurrence of two disorders. In the present study, we describe a multiplex X-linked pedigree in which three siblings have ID, ASD and dysmorphic features but with variable severity. Through Fragile X syndrome test, we identified the full FMR1 mutation in only two males. Whole exome sequencing allowed us to identify a novel hemizygous variant (p.Gln2080_Gln2083del) in MED12 gene in two males. So, the first patient has FXS, the second has both FMR1 and MED12 mutations while the third has only the MED12 variant. MED12 mutations are implicated in several forms of X-linked ID. Family segregation and genotype-phenotype-correlation were in favor of a cooccurrence of two forms of X-linked ID. Our work provides further evidence of the involvement of MED12 in XLID. Moreover, through these results, it is noteworthy to raise awareness that intrafamilial heterogeneity in FXS multiplex families could result from the cooccurrence of multiple clinical entities involving at least two separate genetic loci. This should be taken into consideration for genetic testing and counselling in patients/families with atypical disease symptoms.

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5. Liu T, Kelly J, Davis L, Zamora K. Nutrition, BMI and Motor Competence in Children with Autism Spectrum Disorder. Medicina (Kaunas, Lithuania). 2019 ; 55(5).

Background and objectives : The purpose of this study was to examine the relationship between motor competence, body mass index (BMI), and nutrition knowledge in children with autism spectrum disorder (ASD). Materials and Methods : Fifty-one children with ASD (five females and 46 males) aged 7-12 participated in the study. The Movement Assessment Battery for Children-2 (MABC-2) was used to examine children’s fine and gross motor skill competence ; the nutrition knowledge survey assessed children’s overall knowledge of food groups and healthful eating ; and BMI-for-age determined their weight status. Descriptive analysis and Pearson correlation was used to analyze the relationship between nutrition knowledge, BMI, and motor competence in children with ASD. Results : The majority of children with ASD (82%) showed significant motor delays in MABC-2 assessments. The BMI-for-age percentile data suggested that 20% of participants were obese, 17% were overweight, and 12% were underweight. The nutrition knowledge data indicated that 55% of children scored below 70% on accuracy in the nutrition knowledge survey. Pearson correlation analysis revealed a significant positive relationship between MABC-2 manual dexterity and nutrition knowledge (r = 0.327, p < 0.01), and between MABC-2 balance skills and nutrition knowledge (r = 0.413, p < 0.01). A significant negative relationship was also found between BMI and MABC-2 balance skills (r = -0.325, p < 0.01). Conclusions : The findings of the study suggest that nutrition knowledge and motor competence may be key factors influencing BMI in children with ASD and therefore interventions tackling both sides of the energy balance equation are necessary.

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6. Pomper R, Ellis Weismer S, Saffran J, Edwards J. Specificity of Phonological Representations for Children with Autism Spectrum Disorder. J Autism Dev Disord. 2019.

This study investigated whether children with autism spectrum disorder (ASD) are sensitive to mispronunciations of familiar words and compared their sensitivity to children with typical-development. Sixty-four toddlers with ASD and 31 younger, typical controls participated in a looking-while-listening task that measured their accuracy in fixating the correct object when it was labelled with a correct pronunciation versus mispronunciation. A cognitive style that prioritizes processing local, rather than global features, as claimed by the weak central coherence theory, predicts that children with ASD should be more sensitive to mispronunciations than typical controls. The results, however, reveal no differences in the effect of mispronunciations on lexical processing between groups, even when matched for receptive language or non-verbal cognitive skills.

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7. Protic D, Aydin EY, Tassone F, Tan MM, Hagerman RJ, Schneider A. Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin-two cases. Molecular genetics & genomic medicine. 2019 : e745.

BACKGROUND : The majority of individuals with fragile X syndrome (FXS) have intellectual disability, behavioral problems, autism, and language deficits. IQ typically declines with age in boys with the full mutation. The results of preclinical studies demonstrated that metformin, a biguanide used to treat type 2 diabetes, rescues multiple phenotypes of FXS in both Drosophila and mouse models. Preliminary studies of patients with FXS demonstrated improvements in behavior. METHODS : Here, we present two cases of individuals who have been treated with metformin clinically for one year. RESULTS : Both patients demonstrated significant cognitive and behavioral improvements. They also improved eating habits and normalization of their weight percentiles. CONCLUSION : Metformin may be a candidate drug for treatment of several types of symptoms in individuals with FXS.

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8. Pugliese CE, Ratto AB, Granader Y, Dudley KM, Bowen A, Baker C, Anthony LG. Feasibility and preliminary efficacy of a parent-mediated sexual education curriculum for youth with autism spectrum disorders. Autism. 2019 : 1362361319842978.

Youth with autism spectrum disorder can face social-communication challenges related to sexuality, dating, and friendships. The purpose of this study was to assess the feasibility, acceptability, and preliminary efficacy of the Supporting Teens with Autism on Relationships program. In total, 84 youth with autism spectrum disorder aged 9 to 18 and their parents participated in this study ; two groups received the Supporting Teens with Autism on Relationships program (interventionist-led parent group vs parent self-guided), while an attentional control group received a substance abuse prevention program that included instruction in problem-solving and social skills. Feasibility and acceptability of the Supporting Teens with Autism on Relationships program was high overall. The Supporting Teens with Autism on Relationships program was effective in increasing parent and youth knowledge of sexuality, while the attentional control was not. There was preliminary support for improvement in parenting efficacy related to discussing sexuality with their children. Gains were seen among completers regardless of whether the parent received support from a facilitator. Implications and future directions are discussed.

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9. Skorupski W, Trojnarska O, Bartczak-Rutkowska A, Sikora W, Lesiak M, Grygier M. The curious case of acute myocardial infarction due to paradoxical embolism in young man with ASD II. Kardiologia polska. 2019.

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10. Velmeshev D, Schirmer L, Jung D, Haeussler M, Perez Y, Mayer S, Bhaduri A, Goyal N, Rowitch DH, Kriegstein AR. Single-cell genomics identifies cell type-specific molecular changes in autism. Science (New York, NY). 2019 ; 364(6441) : 685-9.

Despite the clinical and genetic heterogeneity of autism, bulk gene expression studies show that changes in the neocortex of autism patients converge on common genes and pathways. However, direct assessment of specific cell types in the brain affected by autism has not been feasible until recently. We used single-nucleus RNA sequencing of cortical tissue from patients with autism to identify autism-associated transcriptomic changes in specific cell types. We found that synaptic signaling of upper-layer excitatory neurons and the molecular state of microglia are preferentially affected in autism. Moreover, our results show that dysregulation of specific groups of genes in cortico-cortical projection neurons correlates with clinical severity of autism. These findings suggest that molecular changes in upper-layer cortical circuits are linked to behavioral manifestations of autism.

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