1. Al-Salem HS, Bhat RS, Al-Ayadhi L, El-Ansary A. {{Therapeutic potency of bee pollen against biochemical autistic features induced through acute and sub-acute neurotoxicity of orally administered propionic acid}}. {BMC Complement Altern Med}. 2016; 16(1): 120.
BACKGROUND: It is now well documented that postnatal exposure to certain chemicals has been reported to increase the risk of autism spectrum disorder. Propionic acid (PA), as a metabolic product of gut microbiotaandas a commonly used food additive, has been reported to mediate the effects of autism. Results from animal studies may help to identify environmental neurotoxic agents and drugs that can ameliorate neurotoxicity and may thereby aid in the treatment of autism. The present study investigated the ameliorative effects of natural bee pollen against acute and sub-acute brain intoxication induced by (PA) in rats. METHODS: Twenty-four young male Western Albino ratswere enrolled in the present study. They were classified into four equal groups, eachwith6 rats. The control group received only phosphate buffered saline; the oral buffered PA-treated groups (II and III) received a neurotoxic dose of 750 mg/kg body weight divided in 3 dose of 250 mg/kg body weight/day serving asthe acute group and 750 mg/kg body weight divided in 10 equal dose of 75 mg/kg body weight/day as the sub-acute group. The fourth group received 50 mg bee pollen for 30 days after PA-acute intoxication. RESULTS: The obtained data showed that the PA-treated groups demonstrated multiple signs of brain toxicity, as indicated by a depletion of serotonin (5HT), dopamine and nor-adrenaline, together withan increase in IFN-gamma and caspase 3. Bee pollen was effective in ameliorating the neurotoxic effect of PA. All measured parameters demonstrated minimal alteration in comparison with thecontrol animal than did those of acute and sub-acute PA-treated animals. CONCLUSIONS: In conclusion, bee pollen demonstrates anti-inflammatory and anti-apoptotic effects while ameliorating the impaired neurochemistry of PA-intoxicated rats.
Lien vers le texte intégral (Open Access ou abonnement)
2. Contarino VE, Bulgheroni S, Annunziata S, Erbetta A, Riva D. {{Widespread Focal Cortical Alterations in Autism Spectrum Disorder with Intellectual Disability Detected by Threshold-Free Cluster Enhancement}}. {AJNR Am J Neuroradiol}. 2016.
BACKGROUND AND PURPOSE: In the past decades, a large body of work aimed at investigating brain structural anomalies accrued in autism spectrum disorder. Autism spectrum disorder is associated with intellectual disability in up to 50% of cases. However, only a few neuroimaging studies were conducted in autism spectrum disorder with intellectual disability, and none of them benefited from a nonsyndromic intellectual disability control group. MATERIALS AND METHODS: We performed a voxelwise investigation of the structural alterations in 25 children with autism spectrum disorder with intellectual disability by comparing them with 25 typically developing children and 25 nonsyndromic children with an intellectual disability. Besides a classic voxel-based morphometry statistical approach, the threshold-free cluster enhancement statistical approach was adopted. RESULTS: Classic voxel-based morphometry results did not survive family-wise error correction. The threshold-free cluster enhancement-based analysis corrected for family-wise error highlighted the following: 1) widespread focal cortical anomalies and corpus callosum alteration detected in autism spectrum disorder with intellectual disability; 2) basal ganglia and basal forebrain alteration detected both in autism spectrum disorder with intellectual disability and in nonsyndromic intellectual disability; and 3) differences in the frontocingulate-parietal cortex between autism spectrum disorder with intellectual disability and nonsyndromic intellectual disability. CONCLUSIONS: The present study suggests that the frontocingulate-parietal cortex may be the eligible key region for further investigations aiming at detecting imaging biomarkers in autism spectrum disorder with intellectual disability. The detection of structural alterations in neurodevelopmental disorders may be dramatically improved by using a threshold-free cluster enhancement statistical approach.
Lien vers le texte intégral (Open Access ou abonnement)
3. Dickinson K, Place M. {{The Impact of a Computer-Based Activity Program on the Social Functioning of Children with Autistic Spectrum Disorder}}. {Games Health J}. 2016.
BACKGROUND: Problems with social functioning are a major area of difficulty for children with autism. Such problems have the potential to exert a negative influence on several aspects of the children’s functioning, including their ability to access education. This study looked to examine if a computer-based activity program could improve the social functioning of these children. MATERIALS AND METHODS: Using a pooled subject design, 100 children with autistic spectrum disorder were randomly allocated, controlling where possible for age and gender, to either an intervention or a control group. The children in the intervention group were encouraged to use the Nintendo (Kyoto, Japan) Wii and the software package « Mario & Sonic at the Olympics » in addition to their routine school physical education classes over a 9-month period. The control group attended only the routine physical education classes. RESULTS: After 1 year, analysis of the changes in the scores of teacher-completed measures of social functioning showed that boys in the intervention group had made statistically significant improvement in their functioning when compared with controls. The number of girls in the study was too small for any change to reach statistical significance. CONCLUSIONS: This type of intervention appears to have potential as a mechanism to produce improvement in the social functioning, at least of boys, as part of a physical education program.
Lien vers le texte intégral (Open Access ou abonnement)
4. Fluegge K. {{Methyl B12 and Autism Spectrum Disorders: Any Clues to Etiology?}}. {J Child Adolesc Psychopharmacol}. 2016.
Lien vers le texte intégral (Open Access ou abonnement)
5. Fragaki M, Karmiris K, Paspatis GA. {{Crohn’s Disease and Asperger Syndrome: Not Just a Coincidence?}}. {Inflamm Bowel Dis}. 2016.
Lien vers le texte intégral (Open Access ou abonnement)
6. Garg P, Lillystone D, Dossetor D, Eastwood J, Liaw ST. {{A Pilot Study for Understanding the Perceptions of Australian General Practitioners Regarding Psychopharmacology for Children With Autism Spectrum Disorders}}. {J Prim Care Community Health}. 2016.
BACKGROUND: General practitioners (GPs) are increasing involved in the care of children with autism spectrum disorders (ASDs), and prescribe and/or manage psychotropic medications for these children. Few published reports of perceptions of GPs regarding use of these medications exist in the literature. OBJECTIVE: Qualitative analysis of comments by 177 GPs regarding psychopharmacology use in children with ASDs. METHODS: A postal questionnaire survey containing both close- and open-ended questions was conducted in New South Wales, Australia. RESULTS: Respondent GPs were more likely to be females graduated from Australian medical schools and reported an interest either in child or in mental health. The respondents demonstrated good understanding of the issues surrounding psychopharmacology use in children with ASD based on contemporary literature on this topic. The main themes included concerns regarding medication safety, evidence for their use, and role of these medications as an adjuvant to behavior management. GPs reported a lack of experience of these medications, and would often prescribe only under the supervision of specialists. GPs with greater confidence and involvement with children of ASDs prescribed more medications; whereas GP reporting more concerns with regard to medications prescribed less. CONCLUSION: Respondent GPs have good understanding of psychotropic medications but need support from specialists for managing these medications in children with ASDs. Future larger studies should explore the utility of collaborative models of care for GPs to work in close partnerships with specialists.
Lien vers le texte intégral (Open Access ou abonnement)
7. Katz J, d’Albis MA, Boisgontier J, Poupon C, Mangin JF, Guevara P, Duclap D, Hamdani N, Petit J, Monnet D, Le Corvoisier P, Leboyer M, Delorme R, Houenou J. {{Similar white matter but opposite grey matter changes in schizophrenia and high-functioning autism}}. {Acta Psychiatr Scand}. 2016.
OBJECTIVE: High-functioning autism (HFA) and schizophrenia (SZ) are two of the main neurodevelopmental disorders, sharing several clinical dimensions and risk factors. Their exact relationship is poorly understood, and few studies have directly compared both disorders. Our aim was thus to directly compare neuroanatomy of HFA and SZ using a multimodal MRI design. METHODS: We scanned 79 male adult subjects with 3T MRI (23 with HFA, 24 with SZ and 32 healthy controls, with similar non-verbal IQ). We compared them using both diffusion-based whole-brain tractography and T1 voxel-based morphometry. RESULTS: HFA and SZ groups exhibited similar white matter alterations in the left fronto-occipital inferior fasciculus with a decrease in generalized fractional anisotropy compared with controls. In grey matter, the HFA group demonstrated bilateral prefrontal and anterior cingulate increases in contrast with prefrontal and left temporal reductions in SZ. CONCLUSION: HFA and SZ may share common white matter deficits in long-range connections involved in social functions, but opposite grey matter abnormalities in frontal regions that subserve complex cognitive functions. Our results are consistent with the fronto-occipital underconnectivity theory of HFA and the altered connectivity hypothesis of SZ and suggest the existence of both associated and diametrical liabilities to these two conditions.
Lien vers le texte intégral (Open Access ou abonnement)
8. Kothare S, Kaleyias J. {{Is treatment in adults with intellectual and developmental disability also suffering from epilepsy different from adults with uncomplicated epilepsy?}}. {Eur J Neurol}. 2016.
Lien vers le texte intégral (Open Access ou abonnement)
9. Lopez-Mourelo O, Mur E, Madrigal I, Alvarez-Mora MI, Gomez-Anson B, Pagonabarraga J, Rodriguez-Revenga L, Mila M. {{Social anxiety and autism spectrum traits among adult FMR1 premutation carriers}}. {Clin Genet}. 2016.
Behavioral symptoms and traits have been proposed as early markers in neurodegenerative diseases. The aim of this study was to evaluate social anxiety and autism in FMR1 premutation carriers using the Social Phobia Inventory (SPIN) and the Autism-Spectrum Quotient (AQ) questionnaires. Fifty-nine premutation carriers were compared with 50 controls. The SPIN test showed statistically significant differences between female but not male carriers. The AQ questionnaire found statistically significant differences between premutation carriers and controls in the total AQ as well as in the social skills and attention switching subdomains. A gender effect was only observed for the social skills subdomain. Spearman’s correlation analysis revealed a moderately positive correlation with the total AQ scores as well as the social skills and communication subdomains. Our results show that FXTAS patients have higher AQ scores. Moreover, this is the first study to find statistically significant differences between FXTAS and no-FXTAS premutation carriers in the communication and the imagination subdomains, suggesting that FXTAS patients present a broader autistic phenotype than premutation carriers without FXTAS. Based on our results a wide range of behavioral/psychiatric traits should be included within the broader phenotypic presentation of individuals with the FMR1 premutation.
Lien vers le texte intégral (Open Access ou abonnement)
10. Matsumura K, Nakazawa T, Nagayasu K, Gotoda-Nishimura N, Kasai A, Hayata-Takano A, Shintani N, Yamamori H, Yasuda Y, Hashimoto R, Hashimoto H. {{De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ}}. {J Mol Psychiatry}. 2016; 4: 1.
BACKGROUND: A spontaneous de novo mutation is a new mutation appeared in a child that neither the parent carries. Recent studies suggest that recurrent de novo loss-of-function mutations identified in patients with sporadic autism spectrum disorder (ASD) play a key role in the etiology of the disorder. POGZ is one of the most recurrently mutated genes in ASD patients. Our laboratory and other groups have recently found that POGZ has at least 18 independent de novo possible loss-of-function mutations. Despite the apparent importance, these mutations have never previously been assessed via functional analysis. METHODS: Using wild-type, the Q1042R-mutated, and R1008X-mutated POGZ, we performed DNA-binding experiments for proteins that used the CENP-B box sequence in vitro. Data were statistically analyzed by one-way ANOVA followed by Tukey-Kramer post hoc tests. RESULTS: This study reveals that ASD-associated de novo mutations (Q1042R and R1008X) in the POGZ disrupt its DNA-binding activity. CONCLUSIONS: Here, we report the first functional characterization of de novo POGZ mutations identified in sporadic ASD cases. These findings provide important insights into the cellular basis of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
11. Naigles LR, Cheng M, Rattansone NX, Tek S, Khetrapal N, Fein D, Demuth K. {{« You’re telling me! » The Prevalence and Predictors of Pronoun Reversals in Children with Autism Spectrum Disorders and Typical Development}}. {Res Autism Spectr Disord}. 2016; 27: 11-20.
Social and linguistic explanations have been proposed for pronoun reversals in young typically developing (TD) children and those with autism spectrum disorders (ASD). The current study breaks new ground in investigating both explanations, comparing 18 TD toddlers and 15 children with ASD at similar language levels. Spontaneous speech was sampled every four months for six visits. Vocabulary and joint attention were also measured. Both groups produced pronoun reversals at low rates. The ASD group produced somewhat more reversals than the TD group, overall and at multiple visits. In the ASD group, early language and joint attention scores contributed significantly and independently to the incidence of reversal. Both linguistic and social factors seem implicated; moreover, reversals seem to occur when children’s language and social abilities develop asynchronously. These findings can help clinicians devise both linguistic and social interventions for the relevant children.
Lien vers le texte intégral (Open Access ou abonnement)
12. Ooi KL, Ong YS, Jacob SA, Khan TM. {{A meta-synthesis on parenting a child with autism}}. {Neuropsychiatr Dis Treat}. 2016; 12: 745-62.
BACKGROUND: The lifelong nature of autism in a child has deep implications on parents as they are faced with a range of challenges and emotional consequences in raising the child. The aim of this meta-synthesis was to explore the perspectives of parents in raising a child with autism in the childhood period to gain an insight of the adaptations and beliefs of parents toward autism, their family and social experiences, as well as their perceptions toward health and educational services. METHODS: A systematic search of six databases (PubMed, EMBASE, PsychInfo, Cochrane Central Register of Controlled Trials, Cochrane Database of Systematic Reviews, and Database of Abstracts of Reviews of Effects [DARE]) was conducted from inception up to September 30, 2014. Full-text English articles of qualitative studies describing parents’ perceptions relating to the care of children younger than 12 years of age and diagnosed with a sole disorder of autism were included. RESULTS: A total of 50 eligible articles were appraised and analyzed, identifying four core themes encompassing all thoughts, emotions, and experiences commonly expressed by parents: 1) The Parent, 2) Impact on the Family, 3) Social Impact, and 4) Health and Educational Services. Findings revealed that parents who have a child with autism experienced multiple challenges in different aspects of care, impacting on parents’ stress and adaptation. CONCLUSION: Health care provision should be family centered, addressing and supporting the needs of the whole family and not just the affected child, to ensure the family’s well-being and quality of life in the face of a diagnosis of autism.
Lien vers le texte intégral (Open Access ou abonnement)
13. Shailesh H, Gupta I, Sif S, Ouhtit A. {{Towards understanding the genetics of Autism}}. {Front Biosci (Elite Ed)}. 2016; 8: 412-26.
Autism spectrum disorder (ASD) includes a group of neurodevelopmental disorders that affect communication skills, social interaction and intellectual ability. Despite evidence suggesting a strong genetic link with ASD, the genetic determinant remains unclear. Early studies focusing on candidate genes have shown that several genes associated with neuronal synaptic function are involved in development of ASD. Linkage studies have identified several single nucleotide polymorphisms (SNPs) associated with ASD, and genome-wide association studies have implicated several loci, but failed to recognize a single specific locus with strong significance, indicating heterogeneity in ASD genetic determinants. Detection of de novo copy number variations and single nucleotide variants in several ASD probands has confirmed the genetic heterogeneity of the disease. More interestingly, next generation sequencing approaches have recently identified novel candidate genes and several point mutations in sporadic ASDs, thus increasing our knowledge of ASD etiology. The current review summarizes the findings of recent studies using genetic and genomic approaches to understand the underlying molecular mechanisms of ASD.
14. Uzefovsky F, Allison C, Smith P, Baron-Cohen S. {{Brief Report: The Go/No-Go Task Online: Inhibitory Control Deficits in Autism in a Large Sample}}. {J Autism Dev Disord}. 2016.
Autism Spectrum Conditions (ASC, also referred to as Autism Spectrum Disorders) entail difficulties with inhibition: inhibiting action, inhibiting one’s own point of view, and inhibiting distractions that may interfere with a response set. However, the association between inhibitory control (IC) and ASC, especially in adulthood, is unclear. The current study measured IC, using the Go/No-Go task online, in a large adult sample of 201 people with ASC and 240 controls. Number of both False Alarm and False Positive responses were significantly associated with autistic traits and diagnostic status, separately, but not jointly. These findings suggest that deficits in inhibition are associated with ASC. Future studies need to investigate the role of inhibition in ASC in everyday difficulties.
Lien vers le texte intégral (Open Access ou abonnement)
15. Weber CL. {{Understanding fragile X syndrome from a mother’s perspective: Challenges and resilience}}. {Int J Qual Stud Health Well-being}. 2016; 11: 29512.
The purpose of this study is to communicate findings from a case study on a South African mother with three children diagnosed with full mutation fragile X syndrome (FXS). The participant is an unaffected carrier of FXS. Research has shown that mothers of children with FXS often experience high levels of parenting stress and low levels of psychological well-being. However, observations made have piqued curiosity about their positivity and determination to carry on each day raising children diagnosed with FXS. The aim is to develop a better understanding of the manner in which a mother of children with FXS make sense of her situation, to gain further insight into the specific resilience processes she acquired. A qualitative case study approach was followed, gathering data through semi-structured interviews based on open-ended questions. The findings offer new insights into a South African mother’s life raising children with FXS. Even though there is very limited support and little awareness of FXS in South Africa, she still found ways to seek help, and find solutions to every day challenges. The study conclusions discourage blind stereotyping of mothers of children with FXS as vulnerable only. Future research should concentrate on promoting awareness, education, advocacy, and support for individuals with FXS in South Africa.
Lien vers le texte intégral (Open Access ou abonnement)
16. Wink LK, Adams R, Wang Z, Klaunig JE, Plawecki MH, Posey DJ, McDougle CJ, Erickson CA. {{A randomized placebo-controlled pilot study of N-acetylcysteine in youth with autism spectrum disorder}}. {Mol Autism}. 2016; 7: 26.
BACKGROUND: Social impairment is a defining feature of autism spectrum disorder (ASD) with no demonstrated effective pharmacologic treatments. The goal of this study was to evaluate efficacy, safety, and tolerability of oral N-acetylcysteine (NAC), an antioxidant whose function overlaps with proposed mechanisms of ASD pathophysiology, targeting core social impairment in youth with ASD. METHODS: This study was a 12-week randomized, double-blind, placebo-controlled trial of oral NAC in youth with ASD. Study participants were medically healthy youth age 4 to 12 years with ASD, weighing >/=15 kg, and judged to be moderately ill based on the Clinical Global Impressions Severity scale. The participants were randomized via computer to active drug or placebo in a 1:1 ratio, with the target dose of NAC being 60 mg/kg/day in three divided doses. The primary outcome measure of efficacy was the Clinical Global Impressions Improvement (CGI-I) scale anchored to core social impairment. To investigate the impact of NAC on oxidative stress markers in peripheral blood, venous blood samples were collected at screen and week 12. RESULTS: Thirty-one patients were enrolled (NAC = 16, placebo = 15). Three participants were lost to follow-up, and three left the trial due to adverse effects. The average daily dose of NAC at week 12 was 56.2 mg/kg (SD = 9.7) with dose ranging from 33.6 to 64.3 mg/kg. The frequency of adverse events was so low that comparisons between groups could not be conducted. At week 12, there was no statistically significant difference between the NAC and placebo groups on the CGI-I (p > 0.69) but the glutathione (GSH) level in blood was significantly higher in the NAC group (p < 0.05). The oxidative glutathione disulfide (GSSG) level increased in the NAC group, however only at a trend level of significance (p = 0.09). There was no significant difference between the NAC and placebo groups in the GSH/GSSG ratio, DNA strand break and oxidative damage, and blood homocysteine levels at week 12 (ps > 0.16). CONCLUSIONS: The results of this trial indicate that NAC treatment was well tolerated, had the expected effect of boosting GSH production, but had no significant impact on social impairment in youth with ASD. TRIAL REGISTRATION: Clinicaltrails.gov NCT00453180.
