Pubmed du 20/05/19

lundi 20 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. Butera G, Sturla F, Pluchinotta FR, Caimi A, Carminati M. Holographic Augmented Reality and 3D Printing for Advanced Planning of Sinus Venosus ASD/Partial Anomalous Pulmonary Venous Return Percutaneous Management. JACC Cardiovascular interventions. 2019.

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3. Chirumbolo S, Bjorklund G. Use of anti-histamines and osthole in autistic children. International immunopharmacology. 2019 ; 73 : 201-2.

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4. 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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5. Jay K, Mitra A, Harding T, Matthes D, Van Ness B. Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsy. Molecular genetics & genomic medicine. 2019 : e751.

BACKGROUND : Autism spectrum disorder is commonly co-diagnosed intellectual disability, language disorder, anxiety, and epilepsy, however, symptom management is difficult due to the complex genetic nature of ASD. METHODS : We present a next-generation sequencing-based case study with both de novo and inherited genetic variants and highlight the impact of structural variants on post-translational regulation of protein expression. Since management of symptoms has classically been through pharmaceutical therapies, a pharmacogenomics screen was also utilized to determine possible drug/gene interactions. RESULTS : A de novo variant was identified within the FOXP1 3’ untranslated regulatory region using exome sequencing. Additionally, inherited variants that likely contribute to the current and potential future traits were identified within the COMT, SLC6A4, CYP2C19, and CYP2D6 genes. CONCLUSION : This study aims to elucidate how a collection of variant genotypes could potentially impact neural development resulting in a unique phenotype including ASD and epilepsy. Each gene’s contribution to neural development is assessed, and the interplay of these genotypes is discussed. The results highlight the utility of exome sequencing in conjunction with pharmacogenomics screening when evaluating possible causes of and therapeutic treatments for ASD-related symptoms.

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6. 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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7. Sarabzadeh M, Azari BB, Helalizadeh M. The effect of six weeks of Tai Chi Chuan training on the motor skills of children with Autism Spectrum Disorder. Journal of bodywork and movement therapies. 2019 ; 23(2) : 284-90.

OBJECTIVES : Autism Spectrum Disorder (ASD) is related to a dysfunction of central nervous system that most frequently appears at the age of three years old. There is no certain cure for this disorder ; however, decreasing complications can produce positive life changes. Increasing physical activity is an appealing method for reducing behavioral disorders in ASD. Since Tai Chi Chuan training improves focus, attention to internal cues and balance, it seems to be an effective system for autistic children. MATERIALS & METHODS : 18 children with ASD in the age range between 6-12 years old were divided randomly into experimental and control groups. The experimental group participated in a six-week program of Tai Chi Chuan consisting of 18 sessions, limited to 60min each. To assess motor skills, an M-ABC test was used during pre- and post-assessment. In order to analyze the data, dependent and independent T tests were used (with significance level of 0.05). RESULTS : Results showed a significant difference in the subscales of ball skills and balance performance (P<0.05) and no significant difference in the manual agility scale (P>0.05) between the two groups. CONCLUSION : According to the results, it may be concluded that forms of Tai Chi Chuan improve balance and motion coordination. Moreover, this training consists of slow motion workouts with strongly focused attention, which may lead to developed control of body motions with harmony and discipline. Therefore, Tai Chi Chuan training seems to be a helpful therapeutic program to reduce motor limitations, and these benefits can be transferred to daily life in autistic children.

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8. Wijnhoven LA, Niels-Kessels H, Creemers DH, Vermulst AA, Otten R, Engels RC. Prevalence of comorbid depressive symptoms and suicidal ideation in children with autism spectrum disorder and elevated anxiety symptoms. Journal of child and adolescent mental health. 2019 : 1-8.

OBJECTIVE : Children with autism spectrum disorder (ASD) often have comorbid depressive symptoms and suicidal ideation. The aim of this study was to examine levels of depressive symptoms and suicidal ideation in a sample of children with ASD, normal cognitive functioning and elevated anxiety. METHODS : In total, 93 children aged 8-16 years with ASD and with normal cognitive functioning and (sub)clinical anxiety symptoms participated in the present study. Both parents and children filled in questionnaires to measure the level of depressive symptoms. Moreover, children reported their level of suicidal ideation. RESULTS : More than 35% of the children with ASD reported clinical levels of depressive symptoms while, according to parents, even more than 75% of these children showed clinical levels of depressive symptoms. Girls reported significantly higher levels of depressive symptoms than boys. Moreover, 32.2% of the children with ASD and anxiety had suicidal thoughts and 2.2% of the children showed active suicidal ideation. No gender differences were found in suicidal ideation. CONCLUSIONS : The findings indicated that children with ASD, normal cognitive functioning and anxiety symptoms have an increased prevalence of clinical depressive symptoms and suicidal ideation. Therefore, depressive symptoms and suicidal ideation should be assessed when working with anxious children with ASD.

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