1. Ben Amor A, Halayem S, Touati M, Belhadj A, Gouider R, Mrad R, Bouden A. {{Parental satisfaction of an assessment unit for autistic spectrum disorders}}. {Tunis Med}. 2016; 94(6): 167-72.
Background – Based on the recognized principles of assessment of autistic disorders, the child and adolescent psychiatry department in Razi Hospital developed an assessment unit with diagnostic as well as therapeutic roles. The aim of this work was to examine its functioning and to analyze the parents’ perceptions about the unit services. Methods – We gathered the parental satisfaction about the unit by the means of a hetero-questionnaire. Results – Fifty-two parents of children evaluated within the unit were included. Patients had received the diagnosis of Autistic Disorder, Pervasive Developmental Disorders Not Otherwise Specified and Asperger Syndrome in accordance with DSM IV criteria, and than that of Autism Spectrum Disorder after DSM 5 publication. The overall satisfaction rate was 63%. Most parents (84.6%) rated the Psycho Educative Profile examination positively, 75% appreciated the neurological examination and the final report steps, 55.8% appreciated step of the Autism Diagnostic Interview revised and 42.3% the genetic exploration. 67% of the parents reported an improvement of their child following the evaluation. This improvement was attributed to the unit in 57.7% of cases. Parents whose children did not have associated disorders such as intellectual disability (p = 0.02), aggressive behavior (p = 0.04), affective disorder (p = 0.01) and sleep-related disorders (p = 0.03) were the most satisfied. Parents of children with epilepsy comorbidity were the least satisfied (p <10-3). 96% of parents suggested repeating the assessment once a year. Conclusion - Assessment units are based on international recommendations. However, it would be interesting to adapt assessments and orientation to the parents' expectations. Lien vers Pubmed
2. Bray N. {{Neurodevelopmental disorders: Converging on autism spectrum disorder}}. {Nat Rev Neurosci}. 2017.
Lien vers le texte intégral (Open Access ou abonnement)
3. Finke EH, Davis JM, Benedict M, Goga L, Kelly J, Palumbo L, Peart T, Waters S. {{Effects of a Least-to-Most Prompting Procedure on Multisymbol Message Production in Children With Autism Spectrum Disorder Who Use Augmentative and Alternative Communication}}. {Am J Speech Lang Pathol}. 2017: 1-18.
Purpose: In this study, we investigated the efficacy of a least-to-most (LTM) prompting procedure (Ault & Griffen, 2013; MacDuff, Krantz, & McClannahan, 2001; Neitzel & Wolery, 2009) for increasing use of multisymbol messages in school-age children with autism spectrum disorder (ASD) who use augmentative and alternative communication (AAC) during a storybook reading activity. Method: In the study, we used a single-subject, multiple-probe research design across participants (Kazdin, 1982) with 6 children (ages 8-12) with ASD and who used AAC systems for communication. There were 4 phases in this investigation: (a) baseline, (b) intervention, (c) generalization, and (d) maintenance. Results: All participants exhibited a positive increase in multisymbol message production almost immediately upon introduction of the LTM prompting procedure. Conclusions: The results of the investigation contribute important information on the efficacy of the LTM prompting procedure for teaching use of multisymbol messages to school-age children with ASD who use AAC.
Lien vers le texte intégral (Open Access ou abonnement)
4. Hadjkacem I, Ayadi H, Sahnoun C, Walha A, Moalla Y, Ghribi F. {{Congenital anophthalmia, emotional deprivation and autistic-like symptomatology: About one case}}. {Tunis Med}. 2016; 94(7): 339.
5. Kanai C, Hashimoto R, Itahashi T, Tani M, Yamada T, Ota H, Iwanami A, Kato N. {{Cognitive profiles of adults with high-functioning autism spectrum disorder and those with attention-deficit/hyperactivity disorder based on the WAIS-III}}. {Res Dev Disabil}. 2017; 61: 108-15.
The cognitive profile differences between adult patients with autism spectrum disorder (ASD) and those with attention-deficit/hyperactivity disorder (ADHD) are not well characterized. We examined the cognitive profiles of adults having either ASD (n=120) or ADHD (n=76) with no intellectual disabilities (IQ>/=70) using the Wechsler Intelligence Scale III (WAIS-III). Verbal Intelligence (VIQ) – Performance Intelligence (PIQ) difference discrepancies were detected between the two groups. Information subtest scores of the Verbal Comprehension index and Arithmetic and Digit Span subtests of the Freedom from Distractibility index were significantly higher in ASD than in ADHD, while the Picture Completion subtest was significantly lower in ASD. To our knowledge, this is the first study to evaluate the difference in the cognitive profiles of adults with ASD and those with ADHD based on the WAIS III with a large number of participants.
Lien vers le texte intégral (Open Access ou abonnement)
6. Lee M, Martin GE, Berry-Kravis E, Losh M. {{A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome}}. {J Neurodev Disord}. 2016; 8: 47.
BACKGROUND: Targeting overlapping behavioral phenotypes in neurogenetic disorders can help elucidate gene-behavior relationships. Fragile X syndrome (FXS) and autism spectrum disorder (ASD) have been studied as a model for this approach, and important areas of phenotypic overlap and divergence have been documented. However, few studies have examined how the manifestation of ASD-related phenotypes in FXS may change over development, a question which has important implications for conceptualizing shared etiologies of these disorders and their constituent phenotypes. The goal of this study was to characterize ASD phenotypes in boys and girls with FXS across development, as well as to compare individual component phenotypes among boys with FXS and boys with idiopathic ASD (ASD-O) over time. METHODS: Sixty-five boys and girls with FXS and 19 boys with ASD-O completed a battery of diagnostic, cognitive, and language assessments at two time points (mean 2.5 years apart). Nonparametric tests assessed changes in diagnostic classification in FXS over time, and hierarchical linear modeling and repeated measures assessed changes in individual ASD symptoms in FXS over time. Additionally, ANCOVAs compared ASD symptom severity and component phenotypes in boys with FXS-O, FXS-ASD, and ASD-O at both time points. RESULTS: Overall, ASD symptom manifestation for children with FXS significantly increased over time, and developmental predictors varied based on the domain of symptoms assessed. The greatest degree of overlap was observed between boys with FXS-ASD and ASD-O in the domain of reciprocal social communication across time points, whereas boys with ASD-O demonstrated greater impairment in restricted and repetitive behaviors at the later time point. CONCLUSIONS: ASD symptoms increased in FXS with age, and social language impairment emerged as a potential core shared feature of FXS and ASD that may help elucidate underlying molecular genetic variation related to phenotypic variance, and aid intervention planning for subgroups of children showing distinct phenotypes. Results highlight the value of a developmental perspective, and longitudinal data in particular, in evaluating shared behavioral phenotypes across genetic conditions, lending insight into underlying cognitive, neural, and genetic mechanisms associated with key developmental phenotypes in ASD and FXS.
Lien vers le texte intégral (Open Access ou abonnement)
7. Narasingharao K, Pradhan B, Navaneetham J. {{Sleep Disorder, Gastrointestinal Problems and Behaviour Problems Seen in Autism Spectrum Disorder Children and Yoga as Therapy: A Descriptive Review}}. {J Clin Diagn Res}. 2016; 10(11): VE01-VE3.
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with deficiencies in many developmental milestones during the infantile childhood. Recent researches have shown that apart from behaviour problems, the ASD children also suffer from physiological conditions such as disturbed sleep and gastrointestinal problems that could be the contributing factors to their daytime behaviour problems. Lots of parents have expressed that, lack of sleep among the children have resulted in high levels of stress among the family members particularly among the immediate caretakers which are in most cases the mother of the child. Early behaviour intervention is a norm for ASD children which mainly affect the psychological level. Through this paper, an effort has been made to study the contributions made by yoga in order to mitigate such problems. Yoga is a non-invasive and alternative therapy that brings change in both physiological and psychological level of an individual. High levels of stress among the caretakers of these children could make them susceptible to non-communicable diseases such as hypertension, diabetes, arthritis etc. Parental based yoga intervention can be more effective for both children and parents and subsequently to the entire family.
Lien vers le texte intégral (Open Access ou abonnement)
8. Pardo CA, Farmer CA, Thurm A, Shebl FM, Ilieva J, Kalra S, Swedo S. {{Serum and cerebrospinal fluid immune mediators in children with autistic disorder: a longitudinal study}}. {Mol Autism}. 2017; 8: 1.
BACKGROUND: The causes of autism likely involve genetic and environmental factors that influence neurobiological changes and the neurological and behavioral features of the disorder. Immune factors and inflammation are hypothesized pathogenic influences, but have not been examined longitudinally. METHODS: In a cohort of 104 participants with autism, we performed an assessment of immune mediators such as cytokines, chemokines, or growth factors in serum and cerebrospinal fluid (n = 67) to determine potential influences of such mediators in autism. RESULTS: As compared with 54 typically developing controls, we found no evidence of differences in the blood profile of immune mediators supportive of active systemic inflammation mechanisms in participants with autism. Some modulators of immune function (e.g., EGF and soluble CD40 ligand) were increased in the autism group; however, no evidence of group differences in traditional markers of active inflammation (e.g., IL-6, TNFalpha, IL-1beta) were observed in the serum. Further, within-subject stability (measured by estimated intraclass correlations) of most analytes was low, indicating that a single measurement is not a reliable prospective indicator of concentration for most analytes. Additionally, in participants with autism, there was little correspondence between the blood and CSF profiles of cytokines, chemokines, and growth factors, suggesting that peripheral markers may not optimally reflect the immune status of the central nervous system. Although the relatively high fraction of intrathecal production of selected chemokines involved in monocyte/microglia function may suggest a possible relationship with the homeostatic role of microglia, control data are needed for further interpretation of its relevance in autism. CONCLUSIONS: These longitudinal observations fail to provide support for the hypothesized role of disturbances in the expression of circulating cytokines and chemokines as an indicator of systemic inflammation in autism. ClinicalTrials.gov, NCT00298246.
Lien vers le texte intégral (Open Access ou abonnement)
9. Rossi M, Chatron N, Labalme A, Ville D, Carneiro M, Edery P, des Portes V, Lemke JR, Sanlaville D, Lesca G. {{Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy}}. {Eur J Hum Genet}. 2017.
We report on two consanguineous sibs affected with severe intellectual disability and autistic features due to a homozygous missense variant of GRIN1. Massive parallel sequencing was performed using a gene panel including 450 genes related to intellectual disability and autism spectrum disorders. We found a homozygous missense variation of GRIN1 (c.679G>C; p.(Asp227His)) in the two affected sibs, which was inherited from both unaffected heterozygous parents. Heterozygous variants of GRIN1, encoding the GluN1 subunit of the NMDA receptor, have been reported in patients with neurodevelopmental disorders including epileptic encephalopathy, severe intellectual disability, and movement disorders. The p.(Asp227His) variant is located in the same aminoterminal protein domain as the recently published p.(Arg217Trp), which was found at the homozygous state in two patients with a similar phenotype of severe intellectual disability and autistic features but without epilepsy. In silico predictions were consistent with a deleterious effect. The present findings further expand the clinical spectrum of GRIN1 variants and support the existence of hypomorphic variants causing severe neurodevelopmental impairment with autosomal recessive inheritance.European Journal of Human Genetics advance online publication, 4 January 2017; doi:10.1038/ejhg.2016.163.
Lien vers le texte intégral (Open Access ou abonnement)
10. Safari MR, Ghafouri-Fard S, Noroozi R, Sayad A, Omrani MD, Komaki A, Eftekharian MM, Taheri M. {{FOXP3 gene variations and susceptibility to autism: A case-control study}}. {Gene}. 2017; 596: 119-22.
Autism Spectrum Disorders (ASD) are a group of heterogeneous neurodevelopmental disorders associated with immune system dysregulation. There are supporting evidences for the role of Forkhead Box P3 (FOXP3) gene as a lineage specification factor of regulatory T cells in the pathogenesis of ASD. The aim of this study was to explore possible relationship between genetic variants rs2232365 and rs3761548 of FOXP3 and ASD in 523 ASD patients versus 472 control individuals. Allele frequency analyses showed significant overpresentation of rs2232365-G allele in cases versus controls. In addition, rs2232365 GG genotype was associated with ASD in dominant inheritance model. Haplotype analysis revealed no significant association of any estimated block of rs2232365/rs3761548 with ASD. Our study indicated that rs2232365 is associated with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
11. Valacchi G, Pecorelli A, Cervellati C, Hayek J. {{4-hydroxynonenal protein adducts: Key mediator in Rett syndrome oxinflammation}}. {Free Radic Biol Med}. 2017.
In the last 15 years a strong correlation between oxidative stress (OxS) and Rett syndrome (RTT), a rare neurodevelopmental disorder known to be caused in 95% of the cases, by a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, has been well documented. Here, we revised, summarized and discussed the current knowledge on the role of lipid peroxidation byproducts, with special emphasis on 4-hydroxynonenal (4HNE), in RTT pathophysiology. The posttranslational modifications of proteins via 4HNE, known as 4HNE protein adducts (4NHE-PAs), causing detrimental effects on protein functions, appear to contribute to the clinical severity of the syndrome, since their levels increase significantly during the subsequent 4 clinical stages, reaching the maximum degree at stage 4, represented by a late motor deterioration. In addition, 4HNE-PA are only partially removed due to the compromised functionality of the proteasome activity, contributing therefore to the cellular damage in RTT. All this will lead to a characteristic subclinical inflammation, defined « OxInflammation », derived by a positive feedback loop between OxS byproducts and inflammatory mediators that in a long run further aggravates the clinical features of RTT patients. Therefore, in a pathology completely orphan of any therapy, aiming 4HNE as a therapeutic target could represent a coadjuvant treatment with some beneficial impact in these patients..
Lien vers le texte intégral (Open Access ou abonnement)
12. Vivanti G, Hocking DR, Fanning P, Dissanayake C. {{Verbal labels increase the salience of novel objects for preschoolers with typical development and Williams syndrome, but not in autism}}. {J Neurodev Disord}. 2016; 8: 46.
BACKGROUND: Early research has documented that young children show an increased interest toward objects that are verbally labeled by an adult, compared to objects that are presented without a label. It is unclear whether the same phenomenon occurs in neurodevelopmental disorders affecting social development, such as autism spectrum disorder (ASD) and Williams syndrome (WS). METHODS: The present study used a novel eye-tracking paradigm to determine whether hearing a verbal label increases the salience of novel objects in 35 preschoolers with ASD, 18 preschoolers with WS, and 20 typically developing peers. RESULTS: We found that typically developing children and those with WS, but not those with ASD, spent significantly more time looking at objects that are verbally labeled by an adult, compared to objects that are presented without a label. CONCLUSIONS: In children without ASD, information accompanied by the speaker’s verbal label is accorded a « special status, » and it is more likely to be attended to. In contrast, children with ASD do not appear to attribute a special salience to labeled objects compared to non-labeled objects. This result is consistent with the notion that reduced responsivity to pedagogical cues hinders social learning in young children with ASD.
