Pubmed du 08/01/19

mardi 8 janvier 2019

1. Bejno H, Roll-Pettersson L, Klintwall L, Langh U, Odom SL, Bolte S. Cross-Cultural Content Validity of the Autism Program Environment Rating Scale in Sweden. J Autism Dev Disord. 2019.

Increasing rates of autism spectrum disorder (ASD) and younger age at diagnosis pose a challenge to preschool intervention systems. In Sweden, most young autistic children receive intervention service in community-based preschool programs, but no tool is yet available to assess the quality of the preschool learning environment. This study adapted the Autism Program Environment Rating Scale Preschool/Elementary to Swedish community context (APERS-P-SE). Following translation and a multistep modification process, independent experts rated the content validity of the adaptation. Findings indicate high cross-cultural validity of the adapted APERS-P-SE. The cultural adaption process of the APERS-P-SE highlights similarities and differences between the American and Swedish preschool systems and their impact on early ASD intervention.

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2. Bernardo P, Raiano E, Cappuccio G, Dubbioso R, Bravaccio C, Vergara E, Peluso S, Manganelli F, Esposito M. The Treatment of Hypersalivation in Rett Syndrome with Botulinum Toxin : Efficacy and Clinical Implications. Neurology and therapy. 2019.

INTRODUCTION : Subjects with Rett syndrome (RS) develop invariably severe motor deterioration resulting in swallowing difficulties that may produce excessive drooling. Hypersalivation can cause discomfort due to hygienic problems and may complicate with oral and respiratory dysfunctions. The aim of this study is to evaluate the response to treatment with botulinum toxin (BTX) for hypersalivation and to identify possible benefits of saliva reduction on oral motor and respiratory disorders of patients with RS. METHODS : Five consecutive patients with RS and hypersalivation were treated with incobotulinumtoxin A injected in salivary glands with ultrasound guidance. Severity of excessive drooling was assessed with the Thomas-Stonell and Greenberg Scale (TGSC) and the clinical impact of the treatment was evaluated using three selected items of RS Assessment Rating Scale (R.A.R.S.) : eating habits, dyspnoea and bruxism. Scale rating was performed before BTX injection (T0), 4 (T1) and 12 (T2) weeks after. RESULTS : Scores of TGSC and R.A.R.S. (for eating and bruxism) were reduced significantly after therapy at T1. CONCLUSIONS : BTX treatment for sialorrhea in RS is effective in reducing saliva production and may also improve oral motor functions.

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3. Blacher J, Stavropoulos K, Bolourian Y. Anglo-Latino differences in parental concerns and service inequities for children at risk of autism spectrum disorder. Autism. 2019 : 1362361318818327.

In an evaluation of Anglo and Latina mothers and their children at risk of autism, this study compared mother-reported child behavioral concerns to staff-observed symptoms of autism. Within Latina mothers, the impact of primary language (English/Spanish), mothers’ education, and child age on ratings of developmental concerns was examined. Participants were 218 mothers (Anglo = 85 ; Latina = 133) of children referred to a no-cost autism screening clinic. Mothers reported on behavioral concerns, autism symptomology, and services received ; children were administered the Autism Diagnostic Observation Schedule by certified staff. Results revealed that Anglo and Latino children did not differ by autism symptoms or classification. However, Anglo mothers reported significantly more concerns than Latina mothers. Within the Latina group, analyses revealed significant interaction effects of language and child age ; Spanish-speaking mothers of preschoolers endorsed fewer concerns, while Spanish-speaking mothers of school-aged children endorsed more concerns. Despite these reports, Anglo children with a classification of autism spectrum disorder were receiving significantly more services than Latino children with autism spectrum disorder, suggesting early beginnings of a service divide as well as the need for improved parent education on child development and advocacy for Latino families.

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4. Bottema-Beutel K, Kim SY, Crowley S, Augustine A, Kecili-Kaysili B, Feldman J, Woynaroski T. The stability of joint engagement states in infant siblings of children with and without ASD : Implications for measurement practices. Autism Res. 2019.

Obtaining stable estimates of caregiver-child joint engagement states is of interest for researchers who study development and early intervention in young children with autism spectrum disorder (ASD). However, studies to date have offered little guidance on the numbers of sessions and coders necessary to obtain sufficiently stable estimates of these constructs. We used procedures derived from G theory to carry out a generalizability study, in which we partitioned error variance between two facets of our system for measuring joint engagement states : session and coder. A decision study was then conducted to determine the number of sessions and coders required to obtain g coefficients of 0.80, an a priori threshold set for acceptable stability. This process was conducted separately for 10 infant siblings of children with ASD (Sibs-ASD) and 10 infants whose older sibling did not have ASD (Sibs-TD), and for two different joint engagement states ; lower- and higher-order supported joint engagement (LSJE and HSJE, respectively). Results indicated that, in the Sibs-ASD group, four sessions and one coder was required to obtain acceptably stable estimates for HSJE ; only one session and one coder were required for LSJE. In the Sibs-TD group, two sessions and one coder were required for HSJE ; seven sessions and two coders were required for LSJE. Implications for measurement in future research are discussed. Autism Research 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : This study offers guidance for researchers who measure joint engagement between caregivers and infants who have an older sibling with ASD, and who have older siblings who are TD.

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5. Carpenter KLH, Major S, Tallman C, Chen LW, Franz L, Sun J, Kurtzberg J, Song A, Dawson G. White Matter Tract Changes Associated with Clinical Improvement in an Open-Label Trial Assessing Autologous Umbilical Cord Blood for Treatment of Young Children with Autism. Stem cells translational medicine. 2019.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder characterized by social communication deficits and the presence of restricted interests and repetitive behaviors. We have previously reported significant improvements in behavior, including increased social functioning, improved communication abilities, and decreased clinical symptoms in children with ASD, following treatment with a single infusion of autologous cord blood in a phase 1 open-label trial. In the current study, we aimed to understand whether these improvements were associated with concurrent changes in brain structural connectivity. Twenty-five 2- to 6-year-old children with ASD participated in this trial. Clinical outcome measures included the Vineland Adaptive Behavior Scales-II Socialization Subscale, Expressive One-Word Picture Vocabulary Test-4, and the Clinical Global Impression-Improvement Scale. Structural connectivity was measured at baseline and at 6 months in a subset of 19 children with 25-direction diffusion tensor imaging and deterministic tractography. Behavioral improvements were associated with increased white matter connectivity in frontal, temporal, and subcortical regions (hippocampus and basal ganglia) that have been previously shown to show anatomical, connectivity, and functional abnormalities in ASD. The current results suggest that improvements in social communication skills and a reduction in symptoms in children with ASD following treatment with autologous cord blood infusion were associated with increased structural connectivity in brain networks supporting social, communication, and language abilities. Stem Cells Translational Medicine 2019.

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6. Gomes SR, Reeve SA, Brothers KJ, Reeve KF, Sidener TM. Establishing a Generalized Repertoire of Initiating Bids for Joint Attention in Children with Autism. Behav Modif. 2019 : 145445518822499.

The current study evaluated whether multiple-exemplar training, auditory scripts, and script-fading procedures could establish a generalized repertoire of initiating bids for joint attention in four young children with autism. Stimuli drawn from each of three experimenter-defined categories were used during teaching to program for generalization of initiations of bids for joint attention from trained stimuli to novel stimuli. A fourth category was reserved for assessment of across-category generalization of bids for joint attention. The four categories were (a) visually enticing toys, (b) unusually placed items, (c) environmental sounds, and (d) pictures. Assignment of categories for teaching and assessment of generalization was counterbalanced across the participants. Three different auditory scripts were used during intervention for each of the training stimuli to program for response generalization. All four children learned to initiate bids for joint attention. After scripts were subsequently faded and reinforcement was thinned, bids for joint attention were maintained and also generalized to novel stimuli and settings.

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7. Li T, Decety J, Hu X, Li J, Lin J, Yi L. Third-Party Sociomoral Evaluations in Children With Autism Spectrum Disorder. Child Dev. 2019.

We examined explicit and implicit processes in response to third-party moral transgressions in children with autism spectrum disorder (ASD). Twenty 4- to 7-year-old children with ASD and 19 typically developing controls evaluated dynamic visual stimuli depicting intentional or accidental harm to persons or damage to objects. Moral evaluations, eye fixations, and pupil dilations toward the stimuli were collected. Results indicate a preserved capacity to understand the mental states of perpetrators and an implicit moral sensitivity to the third-party harms in children with ASD. Nonetheless, children with ASD showed specific sensitivity and emotional arousal when viewing damage to objects. These findings contribute to the understanding of the underlying mechanisms of moral reasoning in ASD and its possible association with the autistic symptoms.

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8. Lovell B, Heffernan T, Marshall AM, Wetherell MA. Objectively assessed prospective memory failures and diurnal cortisol secretion in caregivers of children with ASD. Journal of family psychology : JFP : journal of the Division of Family Psychology of the American Psychological Association (Division 43). 2019.

Caregivers of children with autism spectrum disorder (ASD) self-report more prospective memory (PM) failures compared with controls. Subjective and objective measures of PM, however, tend to be poorly correlated. This study therefore explored the cognitive impact of caring for a child with ASD using the Cambridge Prospective Memory Test (CAMPROMPT), a more objective, performance-based assessment of PM failures. Whether atypical cortisol secretion patterns might mediate caregivers’ compromised cognition was also explored. A sample of n = 23 caregivers of children with ASD and n = 11 parent controls completed time- and event-cued PM tasks with CAMPROMPT. Diurnal cortisol indices, the cortisol-awakening response, diurnal cortisol slope, and mean diurnal output were estimated from saliva samples on multiple days. Results indicated objectively assessed event- but not time-cued PM failures were greater in caregivers compared with controls. Variations in cortisol secretion patterns, however, did not mediate the group effect. In conclusion, caring for a child with ASD was associated with greater deficits in event-cued PM. Future studies might examine the influence of caregivers’ event-cued PM failures on quality of provided care. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

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9. McLeod JD, DiSabatino L. Structured Variation in Parental Beliefs about Autism. Journal of health and social behavior. 2019 : 22146518820581.

We used data from the 2011 Survey of Pathways to Diagnosis and Services (N = 1,420) to evaluate a conceptual model linking social background (race-ethnicity, socioeconomic status [SES]) to parental distress through children’s clinical profiles and parental beliefs about the nature and causes of their child’s autism. Children’s clinical profiles varied by social background ; white children and children of more highly educated and affluent parents were less likely to experience comorbid conditions and were more likely to be diagnosed with Asperger’s. Parental beliefs also varied such that parents of racial-ethnic minority children and parents of lower SES perceived their child’s condition as more uncertain and were less likely to attribute it to genetic causes. Parents of Hispanic children and with lower incomes were more likely to be upset by the child’s condition. Although parental beliefs had independent associations with distress, children’s clinical profiles contributed more to explaining variation in distress.

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10. Metcalfe D, McKenzie K, McCarty K, Pollet TV. Emotion recognition from body movement and gesture in children with Autism Spectrum Disorder is improved by situational cues. Res Dev Disabil. 2019 ; 86 : 1-10.

BACKGROUND : Research shows people with Autism Spectrum Disorder (ASD) have poorer emotion recognition (ER) compared to their typically developing (TD) peers. However, it is not known whether this is the case when stimuli are limited to gesture and posture, and lack facial expressions. METHOD : Fifty-four children with (n = 27) and without (n = 27) ASD, matched on age and gender, completed an ER task, that used dynamic stimuli. Processing style bias, Autistic-like-traits and empathy were also measured. With ER as the outcome variable, a multilevel logistic model was created. RESULTS : Children with ASD were found to be significantly less accurate in identifying emotions, compared to the control group. Presence of situational cues aided both groups. Autistic-like-traits and empathy were found to correlate too highly with the diagnosed condition to use in the multilevel model. Processing style did not significantly impact ER ability. CONCLUSIONS : This study supports previous research which finds ER ability in people with ASD to be poorer than that of TD peers and that situational cues can aid ER ability. Importantly, the latter is true for people with ASD. The implication of these findings are programmes that aim to improve ER should consider using cues. Limitations of the study are discussed.

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11. Rodriguez G, Hartley SL, Bolt D. Transactional Relations Between Parenting Stress and Child Autism Symptoms and Behavior Problems. J Autism Dev Disord. 2019.

Parents of children with autism spectrum disorder report elevated parenting stress. The current study examined bidirectional effects between parenting stress and three domains of child functioning (ASD symptoms, internalizing behavior problems, and externalizing behavior problems) across four time points in 188 families of children with ASD (ages 5-12 years). Mother and father reports of parenting stress and child functioning were used in cross-lag models to examine bidirectional associations between parenting stress and child functioning. Results indicated parent-driven effects for child internalizing behavior problems, while child externalizing behavior problems and ASD symptoms evidenced both parent-driven and child-driven effects, in different ways for mothers versus fathers. Overall, findings have important implications for interventions for families of children with ASD.

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12. Sanchez-Garcia AB, Galindo-Villardon P, Nieto-Librero AB, Martin-Rodero H, Robins DL. Toddler Screening for Autism Spectrum Disorder : A Meta-Analysis of Diagnostic Accuracy. J Autism Dev Disord. 2019.

Great efforts focus on early detection of autism spectrum disorder, although some scientists and policy-makers have questioned early universal screening. The aim of this meta-analysis was to evaluate the diagnostic accuracy of the different screening tools. Several electronic databases were used to identify published studies. A Bayesian model was used to estimate the screening accuracy. The pooled sensitivity was 0.72 (95% CI 0.61-0.81), and the specificity was 0.98 (95% CI 0.97-0.99). Subgroup analyses to remove heterogeneity indicated sensitivity was 0.77 (95% CI 0.69-0.84), and specificity was 0.99 (95% CI 0.97-0.99 ; SD </= 0.01). Level 1 screening tools for ASD showed consistent statistically significant results and therefore are adequate to detect autism at 14-36 months.

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13. Smith A, Storti S, Lukose R, Kulesza RJ, Jr. Structural and Functional Aberrations of the Auditory Brainstem in Autism Spectrum Disorder. The Journal of the American Osteopathic Association. 2019 ; 119(1) : 41-50.

Autism spectrum disorder (ASD) is a neurodevelopmental condition associated with difficulties in the social, communicative, and behavioral domains. Most cases of ASD arise from an unknown etiologic process, but there are numerous risk factors, including comorbidities and maternal exposures. Although it is not part of the diagnostic criteria, hearing difficulties ranging from deafness to hyperacusis are present in the majority of persons with ASD. High-functioning children with ASD have been found to have significantly slower and asymmetric auditory brainstem reflexes. Additionally, histopathological studies of postmortem brainstems in decedents who had ASD have consistently revealed significantly fewer neurons in auditory nuclei compared with those in people who did not have ASD. The authors review the literature implicating auditory dysfunction in ASD along with results from human study participants and postmortem human brain tissue. Together, these results implicate significant structural and functional abnormalities in the auditory brainstem in ASD and support the utility of auditory testing to screen for ASD.

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14. Wang B, Cao F, Boyland JT. Addressing Autism Spectrum Disorders in China. New directions for child and adolescent development. 2019.

English language readers rarely get glimpses of the state of autism research in China. Given the seriousness of autism, the population of China, and the potential for theoretically interesting cross-cultural insights, we provide a broad survey of research carried out in China on childhood autism. Four themes are considered : etiology, diagnosis, treatment, and education. Autism spectrum disorders (ASD) appears to be a product of epigenetic interactions between genetic and environmental factors ; recent Chinese research on etiology reflects this. Current diagnostic procedures in China involve clinical screening and examinations, while research proceeds on brain-imaging techniques for diagnosis. Research on treatment has introduced a comprehensive and moderately effective approach that includes education and training, psychotherapy, and pharmacotherapy. In the realm of education, however, many problems remain, requiring joint efforts of the government and of other societal actors. Finally, there are opportunities for indigenous Chinese concepts and innovations to contribute to the study of ASD.

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15. Woodward KJ, Stampalia J, Vanyai H, Rijhumal H, Potts K, Taylor F, Peverall J, Grumball T, Sivamoorthy S, Alinejad-Rokny H, Wray J, Whitehouse A, Nagarajan L, Scurlock J, Afchani S, Edwards M, Murch A, Beilby J, Baynam G, Kiraly-Borri C, McKenzie F, Heng JIT. Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance. Molecular genetics & genomic medicine. 2019.

BACKGROUND : Chromosome 22q11.2 is susceptible to genomic rearrangements and the most frequently reported involve deletions and duplications between low copy repeats LCR22A to LCR22D. Atypical nested deletions and duplications are rarer and can provide a valuable opportunity to investigate the dosage effects of a smaller subset of genes within the 22q11.2 genomic disorder region. METHODS : We describe thirteen individuals from six families, each with atypical nested duplications within the central 22q11.2 region between LCR22B and LCR22D. We then compared the molecular and clinical data for patients from this study and the few reported atypical duplication cases, to the cases with larger typical duplications between LCR22A and LCR22D. Further, we analyzed genes with the nested region to identify candidates highly enriched in human brain tissues. RESULTS : We observed that atypical nested duplications are heterogeneous in size, often familial, and associated with incomplete penetrance and highly variable clinical expressivity. We found that the nested atypical duplications are a possible risk factor for neurodevelopmental phenotypes, particularly for autism spectrum disorder (ASD), speech and language delay, and behavioral abnormalities. In addition, we analyzed genes within the nested region between LCR22B and LCR22D to identify nine genes (ZNF74, KLHL22, MED15, PI4KA, SERPIND1, CRKL, AIFM3, SLC7A4, and BCRP2) with enriched expression in the nervous system, each with unique spatiotemporal patterns in fetal and adult brain tissues. Interestingly, PI4KA is prominently expressed in the brain, and this gene is included either partially or completely in all of our subjects. CONCLUSION : Our findings confirm variable expressivity and incomplete penetrance for atypical nested 22q11.2 duplications and identify genes such as PI4KA to be directly relevant to brain development and disorder. We conclude that further work is needed to elucidate the basis of variable neurodevelopmental phenotypes and to exclude the presence of a second disorder. Our findings contribute to the genotype-phenotype data for atypical nested 22q11.2 duplications, with implications for genetic counseling.

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