1. Allen KA, Bredero B, Van Damme T, Ulrich DA, Simons J. {{Test of Gross Motor Development-3 (TGMD-3) with the Use of Visual Supports for Children with Autism Spectrum Disorder: Validity and Reliability}}. {J Autism Dev Disord};2017 (Jan 13)
The validity and reliability of the Test of Gross Motor Development-3 (TGMD-3) were measured, taking into consideration the preference for visual learning of children with autism spectrum disorder (ASD). The TGMD-3 was administered to 14 children with ASD (4-10 years) and 21 age-matched typically developing children under two conditions: TGMD-3 traditional protocol, and TGMD-3 visual support protocol. Excellent levels of internal consistency, test-retest, interrater and intrarater reliability were achieved for the TGMD-3 visual support protocol. TGMD-3 raw scores of children with ASD were significantly lower than typically developing peers, however, significantly improved using the TGMD-3 visual support protocol. This demonstrates that the TGMD-3 visual support protocol is a valid and reliable assessment of gross motor performance for children with ASD.
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2. Conti E, Mitra J, Calderoni S, Pannek K, Shen KK, Pagnozzi A, Rose S, Mazzotti S, Scelfo D, Tosetti M, Muratori F, Cioni G, Guzzetta A. {{Network over-connectivity differentiates autism spectrum disorder from other developmental disorders in toddlers: A diffusion MRI study}}. {Hum Brain Mapp};2017 (Jan 17)
Advanced connectivity studies in toddlers with Autism Spectrum Disorder (ASD) are increasing and consistently reporting a disruption of brain connectivity. However, most of these studies compare ASD and typically developing subjects, thus providing little information on the specificity of the abnormalities detected in comparison with other developmental disorders (other-DD). We recruited subjects aged below 36 months who received a clinical diagnosis of Neurodevelopmental Disorder (32 ASD and 16 other-DD including intellectual disability and language disorder) according to DSM-IV TR. Structural and diffusion MRI were acquired to perform whole brain probabilistic and anatomically constrained tractography. Network connectivity matrices were built encoding the number of streamlines (DNUM ) and the tract-averaged fractional anisotropy (DFA ) values connecting each pair of cortical and subcortical regions. Network Based Statistics (NBS) was finally applied on the connectivity matrices to evaluate the network differences between the ASD and other-DD groups. The network differences resulted in an over-connectivity pattern (i.e., higher DNUM and DFA values) in the ASD group with a significance of P < 0.05. No contra-comparison results were found. The over-connectivity pattern in ASD occurred in networks primarily involving the fronto-temporal nodes, known to be crucial for social-skill development and basal ganglia, related to restricted and repetitive behaviours in ASD. To our knowledge, this is the first network-based diffusion study comparing toddlers with ASD and those with other-DD. Results indicate the detection of different connectivity patterns in ASD and other-DD at an age when clinical differential diagnosis is often challenging. Hum Brain Mapp, 2017. (c) 2017 Wiley Periodicals, Inc. Lien vers le texte intégral (Open Access ou abonnement)
3. Dubois A, Michelon C, Rattaz C, Zabalia M, Baghdadli A. {{Daily living pain assessment in children with autism: Exploratory study}}. {Res Dev Disabil};2017 (Jan 12)
This study aims to broaden knowledge about pain expression and assessment in daily life situations in children with Autism Spectrum Disorder (ASD). The goals are to provide a description of the responses of the GED-DI, the French version of the NCCPC, and to test the internal structure validity of this scale. Thirty five children with ASD were included in this study (mean age=58months; mean developmental age=32months). The French version of the NCCPC was filled in by parents. Descriptive analysis of responses shows that children with ASD express pain through varied and common behaviours, related to different expressive markers (vocal, facial, activity, etc.). Behaviours more specific to the symptomology and disturbances of ASD are also displayed. A four-factor solution (negative emotional reaction, idiosyncratic expression, hyper-vigilance reaction, pain expression) emerges from an exploratory factor analysis that explains 54.4% of the total variance. Correlation coefficients show good psychometric qualities in terms of internal consistency, factorial validity and discriminant validity. This study provides new data about pain expression in daily life situations and shows that the French version of NCCPC adjusted to ASD children is relevant to assess pain in daily life situations.
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4. Martinez G, Alexandre C, Mam-Lam-Fook C, Bendjemaa N, Gaillard R, Garel P, Dziobek I, Amado I, Krebs MO. {{Phenotypic continuum between autism and schizophrenia: Evidence from the Movie for the Assessment of Social Cognition (MASC)}}. {Schizophr Res};2017 (Jan 11)
Schizophrenic (SCZ) and autism (ASD) spectrum disorders share several features including social cognition impairments. In SCZ, the link between symptomatic dimensions and social cognition deficits remains unclear. The Movie for the Assessment of Social Cognition (MASC) test, available in several languages including English, investigates mental state attribution capabilities in complex interpersonal situations. After its translation into French, we used MASC to direct compare social cognition in 36 young participants with SCZ to 19 with ASD and 20 healthy controls (HC) matched for gender, age (18-25y.o.) and level of education. The MASC discriminated each group from the others, patients with SCZ exhibiting difficulties compared to ASD (MASC total score 28.1 (4) and 24.2 (6.6), respectively; p<.001). In the whole sample, MASC scores were inversely correlated with autistic traits, evaluated by autism quotient, and with disorganization symptoms. Finally, in SCZ, over-mentalizing difficulties were correlated with age at disease onset. Our results demonstrate the validity of the French version of the MASC and bring direct evidence supporting the hypothesis of a phenotypic continuum between autism and schizophrenia. Lien vers le texte intégral (Open Access ou abonnement)
5. Masi A, Lampit A, DeMayo MM, Glozier N, Hickie IB, Guastella AJ. {{A comprehensive systematic review and meta-analysis of pharmacological and dietary supplement interventions in paediatric autism: moderators of treatment response and recommendations for future research}}. {Psychol Med};2017 (Jan 16):1-12.
BACKGROUND: Autism spectrum disorders (ASDs) are pervasive and multifactorial neurodevelopmental conditions, characterized by impairments in social communication and interaction, and restricted, repetitive patterns of behaviour, interests or activities. Treatment options to ameliorate symptoms of ASDs are limited. Heterogeneity complicates the quest for personalized medicine in this population. Our aim was to investigate if there are baseline characteristics of patients that moderate response or trial design features that impede the identification of efficacious interventions for ASDs. METHOD: Literature searches of EMBASE, MEDLINE and PsycINFO identified 43 studies for qualitative assessment of baseline characterization of participants and 37 studies for quantitative analysis of moderators of treatment response. Criteria included blinded randomized controlled trials (RCTs) in paediatric ASD, with at least 10 participants per arm or 20 overall, of oral treatments, including pharmacological interventions and dietary supplements. RESULTS: Random-effects meta-analysis of 1997 participants (81% male) identified three moderators associated with an increase in treatment response: trials located in Europe and the Middle-East; outcome measures designated primary status; and the type of outcome measure. Inconsistent reporting of baseline symptom severity and intellectual functioning prevented analysis of these variables. Qualitative synthesis of baseline characteristics identified at least 31 variables, with only age and gender reported in all trials. Biological markers were included in six RCTs. CONCLUSIONS: Few trials reported adequate baseline characteristics to permit detailed analysis of response to treatment. Consideration of geographical location, baseline severity and intellectual function is required to ensure generalizability of results. The use of biological markers and correlates in ASD trials remains in its infancy. There is great need to improve the application of baseline characterization and incorporation of biological markers and correlates to permit selection of participants into homogeneous subgroups and to inform response to treatment in ASD.
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6. Mikkelsen M, Wodka EL, Mostofsky SH, Puts NA. {{Autism spectrum disorder in the scope of tactile processing}}. {Dev Cogn Neurosci};2016 (Dec 23)
Sensory processing abnormalities are among the most common behavioral phenotypes seen in autism spectrum disorder (ASD), typically characterized by either over- or under-responsiveness to stimulation. In this review, we focus on tactile processing dysfunction in ASD. We firstly review clinical studies wherein sensitivity to tactile stimuli has traditionally been assessed by self-, parent- and experimenter-reports. We also discuss recent investigations using psychophysical paradigms that gauge individual tactile thresholds. These more experimentally rigorous studies allow for more objective assessments of tactile abnormalities in ASD. However, little is understood about the neurobiological mechanisms underlying these abnormalities, or the link between tactile abnormalities and ASD symptoms. Neurobiological research that has been conducted has pointed toward dysfunction in the excitation/inhibition balance of the central nervous system of those with ASD. This review covers recent efforts that have investigated tactile dysfunction in ASD from clinical and behavioral perspectives, and some of the efforts to link these to neurobiology. On the whole, findings are inconsistent, which can be ascribed to the subjectivity of clinical assessments, the heterogeneity of ASD cohorts, and the diversity of tactile sensitivity measures. Future endeavors into understanding tactile processing differences in ASD will greatly benefit from controlled experiments driven by neurobiological hypotheses.
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7. Ronen GM, Brady LI, Tarnopolsky MA. {{Males With MECP2 C-terminal-Related Atypical Rett Syndromes and Their Carrier Mothers}}. {Pediatr Neurol};2016 (Oct 25)
BACKGROUND: This communication examines the expanding phenotypes of the MECP2 C-terminal atypical Rett syndromes in males and their affected carrier mothers. DESCRIPTIONS: We describe three males with normal karyotypes who presented with congenital evolving complex neurodevelopmental encephalopathies with multifaceted symptomatology of hypotonia, epilepsy, ataxia, spasticity, movement disorders, behavioral issues, severe intellectual impairment, and communication skills, and a protracted regression phase followed by stabilization. These phenotypes did not prompt us to identify atypical Rett syndrome early in childhood. RESULTS: Genetic analysis identified the two brothers with C-terminal truncation and the third male with C-terminal missense mutations. These mutations were inherited from their mothers, both of whom had incompletely characterized modest intellectual, mental health, social, and gastrointestinal impairments. Neither was independently able to care properly for their son(s). CONCLUSIONS: Mutations of the MECP2 gene should be considered early in males with hypotonia, developmental delay, profound intellectual impairment, and seizures, associated with a mother with psychosocial, cognitive, and gastrointestinal impairments. Counseling and supporting mildly affected mothers requires both medical and social efforts.
