Pubmed du 25/08/18

Pubmed du jour

2018-08-25 12:03:50

1. {{Evidence-based social communication interventions for children with autism spectrum disorder}}. {Br Dent J};2018 (Aug 24);225(4):313.

Adapting communication styles is important.

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2. Bavykina IA, Zvyagin AA, Petrova IV, Nastausheva TL. {{[Markers of gluten intolerance in children with autism spectrum disorders and Down’syndrome]}}. {Zh Nevrol Psikhiatr Im S S Korsakova};2018;118(5. Vyp. 2):64-68.

AIM: To study serological and genetic markers of gluten intolerance in children and teenagers with autism spectrum disorders (ASD) and Down’s syndrome (DS). MATERIAL AND METHODS: Thirty-three children with ASD (group 1) and 8 with DS (group 2), aged from 2.5 to 15 years, were examined. There were 27 boys and 6 girls in group1, 5 boys and 3 girls in group 2. Most of the children were on a regular diet and only 4 children with ASD kept gluten-free diet (GFD). Using ELI method antibodies to gliadin IgG (AntiGliadin IgG), antibodies to deamidated peptides of gliadin IgA (AntiDGP IgA), immunoglobulin A (IgA) were identified. Haplotypes HLA-DQ2 and DQ8 were determined using PCR. RESULTS: AntiGliadin IgG were identified in 12.1% (4) patients of group 1, with the exception of patients on GFD in 13.8%, and in 50% patients of group 2. One child with ASD had selective IgA deficiency. Haplotypes predisposing to celiac disease had 41.9% of patients of group 1 and 37.5% of patients of group 2. In ASD, the distribution of genotypes was as follows: DQ2 (64.3%), DQ8 (28.6%), DQ2/DQ8 (7.1%,). In DS, all patients had haplotype DQ2. AntiDGP IgA were not identified in both groups. CONCLUSION: The predominant form of gluten intolerance in children with ASD and DS is sensitivity to gluten, which can be identified in 40-50% of patients. Celiac disease, an autoimmune form of gluten intolerance, can be diagnosed in single cases, although predisposition to it is identified in 41.9% – 37.5% patients with ASD and DS, respectively. Before the start of GFD, laboratory tests should be made to identify forms of gluten intolerance and the use of GFD.

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3. Belousova ED, Zavadenko NN. {{[Epilepsy and autism spectrum disorders in children]}}. {Zh Nevrol Psikhiatr Im S S Korsakova};2018;118(5. Vyp. 2):80-85.

The problem of epilepsy comorbidity with autism spectrum disorders in children is discussed. The incidence data of autism spectrum disorders in epilepsy, epileptiform discharges on the EEG in autism spectrum disorders and epilepsy in autism spectrum disorders are reviewed. The following types of epilepsy and autism co-occurrence are discussed: both conditions are independent, have different causes and may co-occur by chance; epilepsy and autism are associated, both being independent consequences of the same genetic disorder or early cerebral damage; autism is caused by the epileptic process which interferes with the function of specific brain networks involved in the development of communication and social behavior; autism is a result of the withdrawal reaction in the epileptic child. The known genetic causes of epilepsy and autism spectrum disorders comorbidity are provided. The practical issues are discussed, in particular the rational indication of antiepileptic drugs to the children suffering autism spectrum disorders.

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4. Brooks PJ, Gaggi NL, Ploog BO. {{Generalization of content and emotional prosody across speakers varying in gender in youth with Autism Spectrum Disorder}}. {Res Dev Disabil};2018 (Aug 21);83:57-68.

AIMS: We employed a discrimination-choice procedure, embedded in a custom-made videogame, to evaluate whether youth with Autism Spectrum Disorder (ASD), including nonverbal individuals, distinguish sentences on the basis of emotional tone-of-voice and generalize linguistic information across speaker gender. METHODS AND PROCEDURES: Thirteen youth with ASD (7-21 years) and 13 age-matched typical controls heard pairs of pre-recorded sentences varying in lexical content and prosody (e.g., enthusiastic « Dave rode a bike » vs. grouchy « Mark held a key »). After training to select a target sentence, participants heard test probes comprising re-combinations of the content and prosodic features of the sentences. Interspersed generalization trials used a voice opposite in gender to the voice used in training. OUTCOMES AND RESULTS: Youth with ASD were less accurate than controls in discriminating sentences based on emotional tone-of-voice. Nonverbal and verbal youth did not differ in this regard. The ASD group showed only slight decrements in generalizing to the opposite-gender voice. CONCLUSIONS AND IMPLICATIONS: The finding of intact generalization of linguistic information across male/female speakers contrasts with the widely held view that autism is characterized by deficits in generalization. This suggests the need to test generalization under varying task demands to identify limits on performance.

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5. Dieleman LM, Soenens B, Vansteenkiste M, Prinzie P, Laporte N, De Pauw SSW. {{Daily Sources of Autonomy-Supportive and Controlling Parenting in Mothers of Children with ASD: The Role of Child Behavior and Mothers’ Psychological Needs}}. {J Autism Dev Disord};2018 (Aug 25)

This study aimed to gain more insight in the sources of daily parenting among mothers of children with autism spectrum disorder (ASD). Specifically, we examined associations between daily variations in child behavior, mothers’ psychological needs, and mothers’ controlling and autonomy-supportive parenting. Moreover, the study examined the potential mediating role of daily vitality and stress within these associations. In total 41 mothers (Mage = 41.84 years) of children with ASD (Mage = 10.92 years, range 7-15) participated in a 7-day diary study. Multilevel structural equation modeling revealed that both daily child behavior (i.e., externalizing problems and prosocial behavior) and mothers’ psychological needs relate to day-to-day variation in parenting behavior. Daily stress and vitality played an intervening role in most of these associations.

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6. Dudley KM, Klinger MR, Meyer A, Powell P, Klinger LG. {{Understanding Service Usage and Needs for Adults with ASD: The Importance of Living Situation}}. {J Autism Dev Disord};2018 (Aug 25)

With the increasing prevalence of adults with autism spectrum disorder (ASD), research examining the service experiences of this population is greatly needed. The current study investigated service use, unmet needs, and obstacles to service access for a large sample of adults with ASD. After accounting for various demographic factors known to impact service usage and needs, living situation was a significant predictor of service use, needs, and obstacles to services. Adults with ASD living with family reported less service use, higher unmet need, and more obstacles to accessing services. With more than half of this adult sample living with family, results have clear public policy implications to support the increasing population of adults with ASD living with aging caregivers.

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7. Finkelstein A, Bachner YG, Greenberger C, Brooks R, Tenenbaum A. {{Correlates of burnout among professionals working with people with intellectual and developmental disabilities}}. {J Intellect Disabil Res};2018 (Aug 23)

BACKGROUND: Although burnout has been recognised as an important stress-related problem among staff working with people with intellectual and developmental disabilities (IDD), literature on the subject is limited yet emerging. The aim of this study is twofold: (1) to evaluate the level of burnout within different professions working with IDD; (2) to examine the association between socio-demographic, professional and organisational characteristics and burnout. METHOD: One hundred ninety-nine professionals working with people with IDD were enrolled in the study (66% response rate). Participants were recruited from several facilities that provide care for people with IDD of all ages, in the Jerusalem area and in other cities in central Israel. The anonymous questionnaires included valid and reliable measures of burnout, socio-demographic variables, professional variables and organisational variables. RESULTS: Participants’ mean age was 38.3 years, and most were women. There were no significant differences in burnout levels among the different professionals. Role ambiguity, perceived overload, care-recipient group and job involvement were significant predictors of burnout. The model explained a high percentage (46.8%) of the observed variance. CONCLUSIONS: Most of these predictors are organisational measures. These findings demonstrate that organisational variables are more significantly associated with burnout of staff working with people with IDD than the socio-demographic factors or professional characteristics. Identifying and better understanding the specific factors associated with burnout among professionals working with IDD could facilitate unique intervention programs to reduce burnout levels in staff.

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8. Gomez R, Stavropoulos V, Vance A. {{Psychometric Properties of the Autism Spectrum Quotient: Children’s Version (AQ-Child)}}. {J Autism Dev Disord};2018 (Aug 23)

Confirmatory factor analysis (CFA) and exploratory and factor analysis (EFA) aimed to determine the optimum Autism Spectrum Quotient-Children (AQ-Child) model. Initial CFA of parent ratings of the AQ-Child for 404 clinic-referred children with ADHD, aged between 4 and 11 years, revealed mixed/moderate support for the implied AQ-Child five-factor model and the past statistically supported four-factor model (Auyeung et al., J Autism Dev Disord 38:1230-1240, 2008). Interestingly, EFA findings indicated most support for a four-factor model, with factors reflecting « mind-reading », « social skills », « attention to details », and « imagination ». The items loading in these factors were different from those proposed originally for similar factors (Auyeung et al., J Autism Dev Disord 38:1230-1240, 2008). The factors in the model showed acceptable internal consistency-reliability and discriminant validity. Clinical and research implications are discussed.

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9. Ivanov MV, Simashkova NV, Kozlovskaya GV, Makushkin EV. {{[The epidemiologic study of the risk of autism spectrum disorders in children of 16-24 months in Russia, 2015-2016]}}. {Zh Nevrol Psikhiatr Im S S Korsakova};2018;118(5. Vyp. 2):12-19.

AIM: To screen infants of the general population for the risk of autism spectrum disorders (ASD). MATERIAL AND METHODS: The survey was conducted by a total epidemiological method in primary health care facilities in the three largest regions in Russia (Volgograd, Novosibirsk, Chelyabinsk regions). For the period 2015-2016, 74191 parents of children aged 16-24 months were questioned. RESULTS AND CONCLUSION: The prevalence of risk of ASD (a condition of a pre-illness) was 103.5 cases per 1000 of children aged 16-24 months. Some of the children at ASD risk had a preventive consultation with a psychiatrist, 36 children (0.5 per 1000 peers) had severe clinical disorders classified as F84 – ‘Pervasive developmental disorders’ of ICD-10 (F84.0; F84.1; F84.8). From the perspective of predicative and preventive medicine, children at risk require complex measures to prevent the onset of a mental disorder or worsening of the mental state of the child.

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10. Mitter N, Ali A, Scior K. {{Stigma experienced by family members of people with intellectual and developmental disabilities: multidimensional construct}}. {BJPsych Open};2018 (Sep);4(5):332-338.

Background: There is a lack of good-quality instruments measuring stigma experienced by family members of stigmatised people. Aims: To develop a self-report measure of stigma among families of people with intellectual and developmental disabilities and examine associations between family stigma and other variables. Method: The new Family Stigma Instrument (FAMSI) was tested with 407 family carers, 53% of whose offspring had an autism spectrum disorder in addition to intellectual disability. They also completed measures of subjective well-being, caregiver burden, self-esteem and social support. Results: The FAMSI yielded a five-factor structure and had good reliability. Perceived family stigma, caregiver burden and subjective well-being were the strongest predictors of family stigma. Conclusions: This instrument can advance our understanding of the impact of stigma on family members. It can also help us understand sociodemographic, psychosocial and contextual variables of both the carer and cared for person that may influence family members’ experiences. Declaration of interest: None.

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11. Moreno-Rius J. {{Is there an « antisocial » cerebellum? Evidence from disorders other than autism characterized by abnormal social behaviours}}. {Prog Neuropsychopharmacol Biol Psychiatry};2018 (Aug 25);89:1-8.

The cerebellum is a hindbrain structure which involvement in functions not related to motor control and planning is being increasingly recognized in the last decades. Studies on Autism Spectrum Disorders (ASD) have reported cerebellar involvement on these conditions characterized by social deficits and repetitive motor behavior patterns. Although such an involvement hints at a possible cerebellar participation in the social domain, the fact that ASD patients present both social and motor deficits impedes drawing any firm conclusion regarding cerebellar involvement in pathological social behaviours, probably influenced by the classical view of the cerebellum as a purely « motor » brain structure. Here, we suggest the cerebellum can be a key node for the production and control of normal and particularly aberrant social behaviours, as indicated by its involvement in other neuropsychiatric disorders which main symptom is deregulated social behaviour. Therefore, in this work, we briefly review cerebellar involvement in social behavior in rodent models, followed by discussing the findings linking the cerebellum to those other psychiatric conditions characterized by defective social behaviours. Finally, possible commonalities between the studies and putative underlying impaired functions will be discussed and experimental approaches both in patients and experimental animals will also be proposed, aimed at stimulating research on the role of the cerebellum in social behaviours and disorders characterized by social impairments, which, if successful, will definitely help reinforcing the proposed cerebellar involvement in the social domain.

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12. Skalny AV, Simashkova NV, Skalnaya MG, Klyushnik TP, Chernova LN, Tinkov AA. {{[Mercury and autism spectrum disorders]}}. {Zh Nevrol Psikhiatr Im S S Korsakova};2018;118(5. Vyp. 2):75-79.

The authors present a review of literature on the involvement of perinatal and postnatal mercury exposure in the pathogenesis of autistic spectrum disorders (ASD). A number of studies have shown a reliable association between perinatal and postnatal exposure to mercury and ASD development aa well as clinical and laboratory markers of the severity of these disorders. However the association was not confirmed in other studies. Such contradictions may be explained by differences in the composition of study groups, including geographical characteristics, and the influence of the factors related to mercury neurotoxicity.

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13. Strang JF, Powers MD, Knauss M, Sibarium E, Leibowitz SF, Kenworthy L, Sadikova E, Wyss S, Willing L, Caplan R, Pervez N, Nowak J, Gohari D, Gomez-Lobo V, Call D, Anthony LG. {{« They Thought It Was an Obsession »: Trajectories and Perspectives of Autistic Transgender and Gender-Diverse Adolescents}}. {J Autism Dev Disord};2018 (Aug 23)

Despite research exploring autism in gender-diverse adolescents, no studies have elicited these individuals’ perspectives. In-depth interviews with 22 well-characterized autistic gender-diverse adolescents revealed critical themes, including: recollections of pre-pubertal gender nonconformity; vivid experiences of gender dysphoria; a fear of social gender expression due to perceived animosity toward transgender people; and specific challenges that result from the interplay of gender diversity and neurodiversity. During the ~ 22 month study social gender affirmation increased in six participants and gender dysphoria attenuated in four participants. Given the ethical imperative to understand and prioritize the voiced perspectives and needs of autistic gender minority adolescents as well as the discovery of shared themes and experiences in this population, results should inform clinical research approaches and priorities.

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14. Tsukurova LA. {{[A neuroprotective approach to optimizing treatment and correction activities in children with autism spectrum disorders]}}. {Zh Nevrol Psikhiatr Im S S Korsakova};2018;118(5. Vyp. 2):51-56.

AIM: To study neuroprotective properties of heat shock proteins and neurotrophins in children with autism spectrum disorders (ASD). MATERIAL AND METHODS: Sixty-eight children with ASD (ICD-10 F84), aged from 5 to 12 years, were examined. General clinical examination and evaluation of brain-derived neurotrophic factor (BDNF), nerve growth factor (NGF), heat shock proteins (Hsp27, Hsp70) in the blood serum were performed. RESULTS AND CONCLUSION: There was a decrease in NGF, BDNF, Hsp27, Hsp70 in the total group and in boys with severe ASD. These changes reflect the deterioration of neuroprotective processes in the brain in children with ASD that demands further research and development of treatment procedures.

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15. Vitrac A, Cloez-Tayarani I. {{Induced pluripotent stem cells as a tool to study brain circuits in autism-related disorders}}. {Stem Cell Res Ther};2018 (Aug 23);9(1):226.

The mammalian brain is a very complex organ containing an estimated 200 billion cells in humans. Therefore, studying human brain development has become very challenging given all the data that are available from different approaches, notably genetic studies.Recent pluripotent stem cell methods have given rise to the possibility of modeling neurodevelopmental diseases associated with genetic defects. Fibroblasts from patients have been reprogrammed into pluripotent stem cells to derive appropriate neuronal lineages. They specifically include different subtypes of cortical neurons that are at the core of human-specific cognitive abilities. The use of neurons derived from induced pluripotent stem cells (iPSC) has led to deciphering convergent and pleiotropic neuronal synaptic phenotypes found in neurodevelopmental disorders such as autism spectrum disorders (ASD) and their associated syndromes. In addition to these initial studies, remarkable progress has been made in the field of stem cells, with the major objective of reproducing the in vivo maturation steps of human neurons. Recently, several studies have demonstrated the ability of human progenitors to respond to guidance cues and signals in vivo that can direct neurons to their appropriate sites of differentiation where they become fully mature neurons.We provide a brief overview on research using human iPSC in ASD and associated syndromes and on the current understanding of new theories using the re-implantation of neural precursors in mouse brain.

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