Pubmed du 18/12/19

mercredi 18 décembre 2019

1. Arazi A, Meiri G, Danan D, Michaelovski A, Flusser H, Menashe I, Tarasiuk A, Dinstein I. Reduced sleep pressure in young children with autism. Sleep ;2019 (Dec 18)

STUDY OBJECTIVES : Sleep disturbances and insomnia are highly prevalent in children with Autism Spectrum Disorder (ASD). Sleep homeostasis, a fundamental mechanism of sleep regulation that generates pressure to sleep as a function of wakefulness, has not been studied in children with ASD so far, and its potential contribution to their sleep disturbances remains unknown. Here, we examined whether slow wave activity (SWA), a measure that is indicative of sleep pressure, differs in children with ASD. METHODS : In this case-control study, we compared overnight electroencephalogram (EEG) recordings that were performed during Polysomnography (PSG) evaluations of 29 children with ASD and 23 typically developing children. RESULTS : Children with ASD exhibited significantly weaker SWA power, shallower SWA slopes, and a decreased proportion of slow wave sleep in comparison to controls. This difference was largest during the first two hours following sleep onset and decreased gradually thereafter. Furthermore, SWA power of children with ASD was significantly, negatively correlated with the time of their sleep onset in the lab and at home, as reported by parents. CONCLUSIONS : These results suggest that children with ASD may have a dysregulation of sleep homeostasis that is manifested in reduced sleep pressure. The extent of this dysregulation in individual children was apparent in the amplitude of their SWA power, which was indicative of the severity of their individual sleep disturbances. We, therefore, suggest that disrupted homeostatic sleep regulation may contribute to sleep disturbances in children with ASD.

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2. Bailey KM, Frost KM, Casagrande K, Ingersoll B. The relationship between social experience and subjective well-being in autistic college students : A mixed methods study. Autism ;2019 (Dec 17):1362361319892457.

This mixed methods study examined the relationship between the college social experience and subjective well-being in autistic students in the Midwestern United States. An online survey focused on social connectedness, social participation, social support, and subjective well-being. A semi-structured interview discussed transition, supports received, and social participation. Correlations and a hierarchical regression were used to examine the relationship between social experience variables and subjective well-being from the survey. Inductive thematic analysis was used to identify interview themes. Theme counts for students who reported higher and lower subjective well-being were examined. Social connectedness, time spent with friends, and perceived social support were positively correlated with students’ subjective well-being, with social connectedness explaining unique variance. Common themes included challenges navigating a new social environment and the importance of family, friends, and professors in providing social support. Students with lower subjective well-being more frequently discussed struggles to make social connections and the trade-off between socializing and succeeding academically, whereas students with higher subjective well-being more frequently described college as providing opportunities to develop meaningful social connections. This study adds new perspectives on the college experience for autistic students and highlights the important role that social connections and support play in their subjective well-being.

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3. Benson PR. Examining the Links Between Received Network Support and Marital Quality Among Mothers of Children with ASD : A Longitudinal Mediation Analysis. J Autism Dev Disord ;2019 (Dec 18)

Employing a cohort sequential design and multilevel modeling, the direct and indirect effects (via depressed mood, emotional wellbeing, and perceived support) of received network support on marital quality were assessed over a 7-year period (child age 7-14) on 96 married or cohabiting mothers of children with ASD. Findings indicated several significant direct and indirect effects affecting change within mothers over time, with effects varying by whether the support source was a spouse or partner, family members, or friends. In addition, one moderated mediation effect was noted, with the indirect effect of received spousal support on marital quality via perceived spousal support retaining significance only at low and moderate levels of child problem behavior severity. Study strengths, limitations, and clinical implications are discussed.

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4. Boxhoorn S, Bast N, Super H, Polzer L, Cholemkery H, Freitag CM. Pupil dilation during visuospatial orienting differentiates between autism spectrum disorder and attention-deficit/hyperactivity disorder. J Child Psychol Psychiatry ;2019 (Dec 18)

BACKGROUND : Previous research demonstrated atypical attention in children with attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Regarding visual orienting, findings suggest a differential impairment : Atypical orienting to relatively unexpected targets in ASD, and atypical processing of alerting cues in ADHD. The locus coeruleus-norepinephrine (LC-NE) system plays an important role in exploiting alerting cues to increase attention and task performance. The present study’s aim was to examine differential subcortical processes underlying visual orienting in ASD and ADHD with pupil dilation (PD) as index of LC activity. METHODS : Pupil dilation (PD) progression metrics during visual orienting were calculated for task-evoked PD locked to cue, stimulus onset, and behavioral response. Group differences in PD and reaction time (RT) were compared between children with ASD without ADHD (ASD-) (N = 18), ADHD without ASD (ADHD-) (N = 28), both disorders (ASD + ADHD) (N = 14), and typically developing children (TD) (N = 31) using linear mixed models (LMM). To further explore the modulatory role of the LC-NE system group differences in the effect of task-evoked PD metrics on RT were examined exploratively. RESULTS : ASD (+ADHD) showed slower orienting responses to relatively unexpected spatial target stimuli as compared to TD, which was accompanied by higher PD amplitudes relative to ADHD- and TD. In ADHD-, shorter cue-evoked PD latencies relative to ASD-, ASD + ADHD, and TD were found. Group differences in the effect of cue- and stimulus-evoked PD amplitudes on RT were found in ASD- relative to TD. CONCLUSIONS : Study findings provide new evidence for a specific role of the LC-NE system in impaired reflexive orienting responses in ASD, and atypical visual processing of alerting cues in ADHD.

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5. Castelbaum L, Sylvester CM, Zhang Y, Yu Q, Constantino JN. On the Nature of Monozygotic Twin Concordance and Discordance for Autistic Trait Severity : A Quantitative Analysis. Behav Genet ;2019 (Dec 18)

The characterizing features of autism spectrum disorder (ASD) are continuously distributed in nature ; however, prior twin studies have not systematically incorporated this knowledge into estimations of concordance and discordance. We conducted a quantitative analysis of twin-twin similarity for autistic trait severity in three existing data sets involving 366 pairs of uniformly-phenotyped monozygotic (MZ) twins with and without ASD. Probandwise concordance for ASD was 96% ; however, MZ trait correlations differed markedly for pairs with ASD trait burden below versus above the threshold for clinical diagnosis, with R(2)s on the order of 0.6 versus 0.1, respectively. Categorical MZ twin discordance for ASD diagnosis is rare and more appropriately operationalized by standardized quantification of twin-twin differences. Here we provide new evidence that although ASD itself is highly heritable, variation-in-severity of symptomatology above the diagnostic threshold is substantially influenced, in contrast, by non-shared environmental factors which may identify novel targets of early ASD amelioration.

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6. Donkers FC, Carlson M, Schipul SE, Belger A, Baranek GT. Auditory event-related potentials and associations with sensory patterns in children with autism spectrum disorder, developmental delay, and typical development. Autism ;2019 (Dec 17):1362361319893196.

Atypical sensory response patterns are common in children with autism and developmental delay. Expanding on previous work, this observational electroencephalogram study assessed auditory event-related potentials and their associations with clinically evaluated sensory response patterns in children with autism spectrum disorder (n = 28), developmental delay (n = 17), and typical development (n = 39). Attention-orienting P3a responses were attenuated in autism spectrum disorder relative to both developmental delay and typical development, but early sensory N2 responses were attenuated in both autism spectrum disorder and developmental delay relative to typical development. Attenuated event-related potentials involving N2 or P3a components, or a P1 x N2 interaction, were related to more severe hyporesponsive or sensory-seeking response patterns across children with autism spectrum disorder and developmental delay. Thus, although attentional disruptions may be unique to autism spectrum disorder, sensory disruptions appear across developmental delay and are associated with atypical sensory behaviors.

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7. Hyman SL, Levy SE, Myers SM. Identification, Evaluation, and Management of Children With Autism Spectrum Disorder. Pediatrics ;2019 (Dec 16)

Autism spectrum disorder (ASD) is a common neurodevelopmental disorder with reported prevalence in the United States of 1 in 59 children (approximately 1.7%). Core deficits are identified in 2 domains : social communication/interaction and restrictive, repetitive patterns of behavior. Children and youth with ASD have service needs in behavioral, educational, health, leisure, family support, and other areas. Standardized screening for ASD at 18 and 24 months of age with ongoing developmental surveillance continues to be recommended in primary care (although it may be performed in other settings), because ASD is common, can be diagnosed as young as 18 months of age, and has evidenced-based interventions that may improve function. More accurate and culturally sensitive screening approaches are needed. Primary care providers should be familiar with the diagnostic criteria for ASD, appropriate etiologic evaluation, and co-occurring medical and behavioral conditions (such as disorders of sleep and feeding, gastrointestinal tract symptoms, obesity, seizures, attention-deficit/hyperactivity disorder, anxiety, and wandering) that affect the child’s function and quality of life. There is an increasing evidence base to support behavioral and other interventions to address specific skills and symptoms. Shared decision making calls for collaboration with families in evaluation and choice of interventions. This single clinical report updates the 2007 American Academy of Pediatrics clinical reports on the evaluation and treatment of ASD in one publication with an online table of contents and section view available through the American Academy of Pediatrics Gateway to help the reader identify topic areas within the report.

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8. Hyman SL, Levy SE, Myers SM. Executive Summary : Identification, Evaluation, and Management of Children With Autism Spectrum Disorder. Pediatrics ;2019 (Dec 16)

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9. Koromina M, Flitton M, Blockley A, Mellor IR, Knight HM. Damaging coding variants within kainate receptor channel genes are enriched in individuals with schizophrenia, autism and intellectual disabilities. Sci Rep ;2019 (Dec 16) ;9(1):19215.

Schizophrenia (Scz), autism spectrum disorder (ASD) and intellectual disability are common complex neurodevelopmental disorders. Kainate receptors (KARs) are ionotropic glutamate ion channels involved in synaptic plasticity which are modulated by auxiliary NETO proteins. Using UK10K exome sequencing data, we interrogated the coding regions of KAR and NETO genes in individuals with Scz, ASD or intellectual disability and population controls ; performed follow-up genetic replication studies ; and, conducted in silico and in vitro functional studies. We found an excess of Loss-of-Function and missense variants in individuals with Scz compared with control individuals (p = 1.8 x 10(-10)), and identified a significant burden of functional variants for Scz (p < 1.6 x 10(-11)) and ASD (p = 6.9 x 10(-18)). Single allele associations for 6 damaging missense variants were significantly replicated (p < 5.0 x 10(-15)) and confirmed GRIK3 S310A as a protective genetic factor. Functional studies demonstrated that three missense variants located within GluK2 and GluK4, GluK2 (K525E) and GluK4 (Y555N, L825W), affect agonist sensitivity and current decay rates. These findings establish that genetic variation in KAR receptor ion channels confers risk for schizophrenia, autism and intellectual disability and provide new genetic and pharmacogenetic biomarkers for neurodevelopmental disease.

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10. Kovarski K, Malvy J, Khanna RK, Arsene S, Batty M, Latinus M. Reduced visual evoked potential amplitude in autism spectrum disorder, a variability effect ?. Transl Psychiatry ;2019 (Dec 18) ;9(1):341.

Atypical sensory behaviours represent a core symptom of autism spectrum disorder (ASD). Investigating early visual processing is crucial to deepen our understanding of higher-level processes. Visual evoked potentials (VEPs) to pattern-reversal checkerboards were recorded in ASD children and age-matched controls. Peak analysis of the P100 component and two types of single-trial analyses were carried out. P100 amplitude was reduced in the ASD group, consistent with previous reports. The analysis of the proportion of trials with a positive activity in the latency range of the P100, measuring inter-trial (in)consistency, allowed identifying two subgroups of ASD participants : the first group, as control children, showed a high inter-trial consistency, whereas the other group showed an inter-trial inconsistency. Analysis of median absolute deviation of single-trial P100 (st-P100) latencies revealed an increased latency variability in the ASD group. Both single-trial analyses revealed increased variability in a subset of children with ASD. To control for this variability, VEPs were reconstructed by including only positive trials or trials with homogeneous st-P100 latencies. These control analyses abolished group differences, confirming that the reduced P100 amplitude results from increased inter-trial variability in ASD. This increased variability in ASD supports the neural noise theory. The existence of subgroups in ASD suggests that the neural response variability is not a genuine characteristic of the entire autistic spectrum, but rather characterized subgroups of children. Exploring the relationship between sensory responsiveness and inter-trial variability could provide more precise bioclinical profiles in children with ASD, and complete the functional diagnostic crucial for the development of individualized therapeutical projects.

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11. Kuntz EM, Santos AV, Kennedy CH. Functional analysis and intervention of perseverative speech in students with high-functioning autism and related neurodevelopmental disabilities. J Appl Behav Anal ;2019 (Dec 16)

Although perseverative speech is a common characteristic of individuals with high-functioning neurodevelopmental disabilities, little is known about the operant functions of these verbalizations. We conducted analogue functional analyses of perseverative speech for 2 students using reinforcement contingencies that included alone, attention, control, escape, and tangible conditions. Results showed the following patterns : attention only (Charlotte) or multiply determined including an attention function (Paul). We then tested an intervention for perseverative speech maintained by social positive reinforcement that included differential reinforcement of alternative behavior and extinction of perseverative speech for 1 participant. The intervention reduced perseverative speech, but did not increase appropriate speech until we added a prompting component. We then replicated this three-component intervention with Paul. The results showed moderate to high decreases in levels of perseverative speech and increased appropriate verbalizations in both cases. The results systematically replicated the interventions of previous studies by adding a prompting component to the intervention.

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12. Li Y, Zhou Z, Chang C, Qian L, Li C, Xiao T, Xiao X, Chu K, Fang H, Ke X. Anomalies in uncinate fasciculus development and social defects in preschoolers with autism spectrum disorder. BMC Psychiatry ;2019 (Dec 16) ;19(1):399.

BACKGROUND : Individuals with autism spectrum disorder (ASD) have social interaction deficits and difficulties in emotional regulation. The neural substrates for these socio-affective deficits are not yet clear, but one potential candidate is maldevelopment of the uncinate fasciculus (UF), a white matter tract thought to be involved in socio-affective processing. However, the developmental trajectory of the UF in young children with social interaction deficits has not been examined. The present study was designed to describe the developmental growth trajectory of the UF and the relationships between UF development and social deficits in ASD. METHODS : Eigenvalues of the UF were measured by diffusion tensor imaging (DTI)-based tractography in 37 children with ASD and 27 matched 2-3-year-old subjects with developmental delay (DD) at baseline (time 1) and at 2-year follow-up (time 2). Growth rates of the UF were compared between groups and associations with social deficit scores according to the Autism Diagnostic Interview-Revised (ADI-R) analyzed by Pearson’s correlations. RESULTS : At time 1, axial diffusivity (AD) of the left UF was significantly larger in the ASD group than the DD group. At time 2, left UF fractional anisotropy (FA) was significantly higher and radial diffusivity (RD) significantly lower in the ASD group than the DD group. The rate of UF growth during this 2-year interval was faster in children with ASD than DD. Significant negative correlations were found between the rise in ADI-R social deficit measures and both right UF RD and left UF mean diffusivity (MD). CONCLUSIONS : Young children with ASD demonstrate UF overgrowth during the 2-year development period between 2 and 3 and 4-5 years of age, and this white matter abnormality is directly associated with the progression of social deficits. TRIAL REGISTRATION : World Health Organization class I registered international clinical trial platform, ChiCTR-ROC-17012877.

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13. Lombardo MV, Eyler L, Moore A, Datko M, Carter Barnes C, Cha D, Courchesne E, Pierce K. Default mode-visual network hypoconnectivity in an autism subtype with pronounced social visual engagement difficulties. Elife ;2019 (Dec 17) ;8

Social visual engagement difficulties are hallmark early signs of autism (ASD) and are easily quantified using eye tracking methods. However, it is unclear how these difficulties are linked to atypical early functional brain organization in ASD. With resting state fMRI data in a large sample of ASD toddlers and other non-ASD comparison groups, we find ASD-related functional hypoconnnectivity between ’social brain’ circuitry such as the default mode network (DMN) and visual and attention networks. An eye tracking-identified ASD subtype with pronounced early social visual engagement difficulties (GeoPref ASD) is characterized by marked DMN-occipito-temporal cortex (OTC) hypoconnectivity. Increased DMN-OTC hypoconnectivity is also related to increased severity of social-communication difficulties, but only in GeoPref ASD. Early and pronounced social-visual circuit hypoconnectivity is a key underlying neurobiological feature describing GeoPref ASD and may be critical for future social-communicative development and represent new treatment targets for early intervention in these individuals.

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14. Marsack-Topolewski CN. A Snapshot of Social Support Networks Among Parental Caregivers of Adults with Autism. J Autism Dev Disord ;2019 (Dec 18)

This study provided a description of types and dimensions of informal and formal social support among aging parental caregivers of adult children diagnosed with autism spectrum disorder (ASD). Parents participated in a web-based survey regarding use of and satisfaction with social support services for parents or their adult children. Results indicated that many parents participated in autism support groups (27.5%), with psychiatric services (48.8%), counseling (40.6%), and financial assistance (39.7%) the most commonly used formal social supports. Emotional support (88.8%) and informational support (67.5%) were the most common informal social supports used. Professionals who are working with parental caregivers and their adult children diagnosed with ASD should be aware of available social support services to help them find needed services.

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15. Maxeiner S, Sester M, Krasteva-Christ G. Novel human sex-typing strategies based on the autism candidate gene NLGN4X and its male-specific gametologue NLGN4Y. Biol Sex Differ ;2019 (Dec 18) ;10(1):62.

BACKGROUND : Since the early days of PCR techniques, sex identification, "sex-typing," of genomic DNA samples has been a fundamental part of human forensic analysis but also in animal genetics aiming at strategic livestock breeding. Most analyses are employing the AMELX/AMELY gene loci on the X and Y chromosomes present in most mammals. We hypothesize that sex-typing in humans is also possible based on the genes NLGN4X and NLGN4Y, which represent X and Y chromosome-specific copies of a common ancestral neuroligin-4 orthologue. METHODS : Genomic DNA was isolated from human blood and buccal cell samples (total n = 111) and submitted to two different strategies : (a) a traditional two-primer PCR approach detecting an insertion/deletion (indel) polymorphism immediately upstream of the translational start on exon 1 and (b) detection of a single nucleotide polymorphism, SNP, on the translational stop carrying exon 7. The SNP detection was based on a quantitative PCR approach (rhAMP genotyping) employing DNA/RNA hybrid oligonucleotides that were blocked and which could only be activated upon perfect annealing to the target DNA sequence. RESULTS : All indel PCR-tested human DNA samples showed two bands for males representing X- and Y-specific copies of NLGN4 and a single band for female samples, i.e., homozygosity of NLGN4X and absence of NLGN4Y, in accordance with the self-reported sex of the donors. These results were in perfect agreement with the results of the rhAMP-based SNP-detection method : all males were consequently positive for both alleles, representing either SNP variant, and females were interpreted as homozygous regarding the SNP variant found in NLGN4X. Both methods have shown reliable and consistent results that enabled us to infer the sex of donor DNA samples across different ethnicities. CONCLUSIONS : These results indicate that the detection of human NLGN4X/Y is a suitable alternative to previously reported methods employing gene loci such as AMELX/Y. Furthermore, this is the first report applying successfully the rhAMP-genotyping strategy as a means for SNP-based sex-typing, which consequently will be applicable to other gene loci or different species as well.

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16. Munnich A, Demily C, Frugere L, Duwime C, Malan V, Barcia G, Vidal C, Throo E, Besmond C, Hubert L, Roland-Manuel G, Malen JP, Ferreri M, Hanein S, Boddaert N, Assouline M. [Twenty years of on-site clinical genetics consultations for people with ASD]. Med Sci (Paris) ;2019 (Nov) ;35(11):843-851.

Despite advances in neurogenetics of autism spectrum disorders (ASD), many patients fail to be systematically investigated, owing to preconceived ideas, limited access to genetics facilities and inadequacy of consultations to children with behavioural problems. To improve access to services, we reversed the paradigm and delivered on-site genetics consultations to ASD children of Greater Paris day care hospitals and specialized institutions. Since 1998, an ambulatory medical genetics team has been in operation, offering on-site consultations and services to patients and relatives in their usual environment. Because the mobile medical genetics unit operates under the umbrella of a university hospital, service laboratories were shared, including molecular cytogenetics and next generation sequencing (NGS). For the past 20 years, 502 patients from 26 institutions benefited from on-site consultations and genetics services in their usual environment. Less than 1 % of parents declined the offer. Previously undiagnosed genetics conditions were recognized in 71 ASD children, including pathogenic CNV variants (34/388 : 8.8 ; de novo : 19, inherited : 4), Fragile X (4/312 : 1.3 %) and deleterious variants in disease causing genes (33/141 ; 23.4 % : de novo : 23 ; inherited : 10, including 5 X-linked and 5 compound heterozygote mutations). Brain MRI were possible in 347 patients and 42 % were considered abnormal (146/347). All diagnosed patients presented atypical/syndromic ASD with moderate to severe intellectual disability. Thanks to such flexible organisation, a considerable number of missed consultations were tracked and families first benefited from medical genetics services. Owing to constraints imposed by behavioural problems in ASD, we suggest considering on-site genetics services to implement standard of care and counteract the loss of chance to patients and relatives.

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17. Pasco G, Davies K, Ribeiro H, Tucker L, Allison C, Baron-Cohen S, Johnson MH, Charman T. Comparison of Parent Questionnaires, Examiner-Led Assessment and Parents’ Concerns at 14 Months of Age as Indicators of Later Diagnosis of Autism. J Autism Dev Disord ;2019 (Dec 16)

Parents participating in a prospective longitudinal study of infants with older siblings with autism completed an autism screening questionnaire and were asked about any concerns relating to their child’s development, and children were administered an interactive assessment conducted by a researcher at 14 months. Scores on the parent questionnaire were highest for children later diagnosed with autism. Parental concerns and scores from the examiner-led assessment distinguished children with later developmental difficulties (both autism and other developmental atypicalities) from those who were developing typically. Children about whom parents expressed concern scored higher on both the questionnaire and the interactive assessment than those without concerns. There were no significant associations between total or individual item scores from the questionnaire and interactive assessment.

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18. Santos G, Borges JMP, Avila-Rodriguez M, Gaino SB, Barreto GE, Rubio EP, Aguiar RM, Galembeck E, Bromochenkel CB, de Oliveira DM. Copper And Neurotoxicity In Autism Spectrum Disorder. Curr Pharm Des ;2019 (Dec 16)

Free radicals (FR) act on living organisms and present unpaired electrons electrons in the molecular orbitals of oxygen or nitrogen species. They are classified as redox reactions and account for a wide range of processes in biological systems. Genetic and environmental factors may alter the levels of FR in the cell, leading to deleterious consequences such as membrane lipid peroxidation, protein nitration, enzyme, carbohydrate and DNA damage, ultimately resulting in premature aging and a pro-inflammatory microenvironment as observed in Alzheimer’s disease (AD) and autism spectrum disorder (ASD). O2 radical ability to act as a Lewis base and to form complex with metal transition such as iron and copper (a Lewis acids) leads to biomolecules oxidation at physiological pH, thus increasing the possibility of injury and oxidative damage in biological tissues. In this review, we discuss the role of metals, like copper, and the amyloid precursor protein (APP) derivative (s-APP-alpha) as an antioxidant and a possible adjuvant in the treatment of some autistic spectrum disorder symptoms (ASD).

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19. Stone WL, Ibanez LV, Carpentier P, Posner E, Bravo A, Frederick L, Locke J. Early Intervention Providers’ Perspectives About Working with Families of Toddlers with Suspected ASD : A Qualitative Study. J Autism Dev Disord ;2019 (Dec 16)

Part C early intervention (EI) providers are at the front line of service provision for children under 3 years old with developmental delays or disabilities. As such, they can play a key role in both the early detection of autism spectrum disorder (ASD) and the provision of ASD-specialized treatment. Focus groups were conducted with 25 EI providers from three agencies in a Northwestern U.S. county to understand their role in the identification of ASD and communication about ASD concerns to families. Results revealed the tension that providers experience between maintaining a positive and supportive relationship with families and raising the issue of possible ASD. Cultural influences affecting ASD care and suggestions for desired resources were also discussed.

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20. Wu H, Lu F, Yu B, Liu Q. Phonological acquisition and development in Putonghua-speaking children with Autism Spectrum Disorders. Clin Linguist Phon ;2019 (Dec 18):1-17.

Poor phonological development adversely affects language development and interpersonal communication abilities in children with Autism Spectrum Disorders (ASD). However, the characteristics of phonological development in children with ASD who speak Putonghua (the official standard spoken form of modern Mandarin Chinese) remain largely unknown. This study aims to investigate phonological acquisition and development among Putonghua-speaking children with ASD. Data were collected from participants recruited in Shanghai, China. Two experiments were conducted. In experiment I, phonological acquisition was compared between 16 children with ASD aged 3-6 years and 16 age-matched typically developing (TD) children. In experiment II, phonological acquisition was compared between 26 children with ASD over 6 years old and 26 receptive-language-age-matched TD children. Picture naming was applied to measure participants’ phonology - the 21 initials, 36 finals and four tones of Putonghua. Paired-samples t-tests and Fisher’s exact tests were applied. In experiment I, scores on initials, finals, tones and total phonology of children with ASD aged 3-6 years were significantly lower than those of age-matched TD children. The pronunciation accuracy rates for initials such as/x, t(h), l/, finals such as/ja, jo, wo/ and Tone 3 (the low-rising tone) in the ASD group were significantly lower than in the TD group. In experiment II, there was no significant difference in overall phonological developmental level between children with ASD over 6 years old and receptive-language-age-matched TD children. Phonological development of Putonghua-speaking children with ASD was significantly lower than that of age-matched TD children but closer to that of receptive-language-age-matched TD children. Further, participants with ASD showed atypical development sequences in both initials and finals.

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21. Yamawaki K, Ishitsuka K, Suyama S, Suzumura S, Yamashita H, Kanba S. Clinical characteristics of boys with comorbid ASD and ADHD. Pediatr Int ;2019 (Dec 16)

BACKGROUND : Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are frequently comorbid and, as both are defined as neurodevelopmental disorders in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, simultaneous diagnosis is possible. However, despite the frequency of this comorbid state, its endophenotypic features remain unclear. This study thus aimed to describe the behavioral and emotional problems in boys with comorbid ASD and ADHD using the Strengths and Difficulties Questionnaire (SDQ). METHODS : In total, 102 boys (age, 6-12 years) diagnosed with one or both disorders were divided into three groups according to their clinical diagnosis : ASD+ADHD (N = 39), ASD (N = 37), and ADHD (N = 25). Symptoms and related behaviors were compared among the groups using parents’ ratings of the autism spectrum quotient, ADHD rating scale-IV, and SDQ. RESULTS : In the ASD+ADHD group, the proportion of "clinical range" cases was as high as 76.9% for the SDQ total difficulties score (TDS). The ASD+ADHD and ADHD groups had significantly higher TDS as well as behavioral problems and hyperactivity subscale scores than did the ASD group ; however, the ASD+ADHD group did not have significantly different scores on any subscale compared with the other two groups. Additionally, the ASD+ADHD and ASD groups had significantly lower prosocial behavior scores than the ADHD group. CONCLUSIONS : When using the SDQ as a screening tool for neurodevelopmental disorders, a high TDS, conduct problems, hyperactivity, and low prosocial behavior can be considered characteristic of ASD and ADHD comorbidity in 6- to 12-year-old boys.

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