1. Accardo AL, Finnegan EG, Kuder SJ, Bomgardner EM. {{Writing Interventions for Individuals with Autism Spectrum Disorder: A Research Synthesis}}. {J Autism Dev Disord};2019 (Mar 5)
Building on previous research in the area of written expression for individuals with ASD a research synthesis was conducted to identify (1) writing interventions that have been studied and their effect in improving writing skills of individuals with ASD, (2) intervention features that influence the writing skills of learners with ASD, and (3) the quality of the research. A total of 62 participants were represented across the 24 single case design studies meeting inclusion criteria. Nine interventions emerged with a majority focused on self-regulated strategy development. Effective interventions (PND above 70%) are reported, along with the emergent feature of « packages » using co-occurring combinations of visual, motivational, choice, technology, behavioral, peer, auditory, and tactile supports in conjunction with writing interventions.
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2. Alvarez Bravo G, Fernandez-Carril JM, Lopez-Zuazo I, Yusta Izquierdo A, Abrol T, Alsinaidi O. {{A Novel Clinical Phenotype of Fragile X-Associated Tremor/Ataxia Syndrome}}. {Mov Disord Clin Pract};2018 (Jul-Aug);5(4):430-432.
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3. Anderson GM. {{Autism Risk and Serotonin Reuptake Inhibitors}}. {JAMA Psychiatry};2019 (Mar 6)
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4. Arnold SRC, Uljarevic M, Hwang YI, Richdale AL, Trollor JN, Lawson LP. {{Brief Report: Psychometric Properties of the Patient Health Questionaire-9 (PHQ-9) in Autistic Adults}}. {J Autism Dev Disord};2019 (Mar 7)
Despite the high prevalence of depression and other mental illnesses in autistic adults, screening instruments such as the Patient Health Questionnaire (PHQ-9) have not been specifically validated in an autistic sample. Using data from two Autism CRC longitudinal studies (n = 581), confirmatory factor analysis supported the two-factor model (somatic and cognitive/affective) in the autistic sample and one-factor model in the community comparison sample. Confirmatory bifactor analysis also supported use of the PHQ-9 total score in autism. Good convergent validity was found with two measures of psychological well-being for PHQ-9 total and subdomain scores. The PHQ-9 is a useful tool for autism research allowing comparison across autistic and non-autistic participants.
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5. Ausderau KK, St John B, Kwaterski KN, Nieuwenhuis B, Bradley E. {{Parents’ Strategies to Support Mealtime Participation of Their Children With Autism Spectrum Disorder}}. {Am J Occup Ther};2019 (Jan/Feb);73(1):7301205070p7301205071-7301205070p7301205010.
OBJECTIVE: We identified and described the strategies parents use to support the mealtime participation of their child with autism spectrum disorder (ASD). METHOD: Twelve families with children with ASD (ages 2-7 yr) participated in videotaped mealtime observations. Qualitative content analysis was used to identify strategies families used to facilitate participation. RESULTS: Six categories were identified: (1) parent intervening and ignoring, (2) meal preparation and adaptability, (3) play and imagination, (4) distractions, (5) positive reinforcements, and (6) modeling. Props-common child objects that support the child’s mealtime participation-were used in the context of multiple strategies. In addition, increased parental vigilance emerged as an important component of all family mealtimes. CONCLUSION: Families used multiple strategies within and across mealtimes, highlighting the individualistic nature of feeding challenges. Understanding parent mealtime strategies allows for further investigation into the efficacy and development of intervention strategies to promote mealtime participation of children with ASD.
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6. Balestro JI, Fernandes FDM. {{Caregivers’ perception of children with Autism Spectrum Disorder regarding to the communicative profile of their children after a communicative orientation program}}. {Codas};2019 (Mar 7);31(1):e20170222.
PURPOSE: To analyze the perception of caregivers of children with Autism Spectrum Disorder regarding the functional profile of their children’s communication in three moments, before and after the guidelines. METHODS: Caregivers of 62 children diagnosed with ASD (AUTISM SPECTRUM DISORDER) participated in this study, divided into three groups of interventions. All interventions included a program with five pre-set monthly orientation sessions to provide information on the development of communication and encourage practical communication activities in daily life. In G1 (group 1), the caregivers received the group orientation program, and the children received individual speech therapy. In G2 (group 2), caregivers received the same program orientations but individually, and their children received different treatment. G3 (group 3), composed of caregivers of children waiting for speech-language pathology on the waiting list, received group guidance. All caregivers answered the Functional Communication Checklist (PFC-C) in three moments: baseline, five and eight months. RESULTS: In the PFC-C the parents reported an increase in the occurrence of gestural, vocal and verbal means in all groups, to express interpersonal communicative functions, except in G2. In non-interpersonal communicative functions, there was a decrease in the occurrence of the gestural communicative environment, an increase in the verbal climate, with no statistical difference between the groups. As for the vocal climate, there was no difference over time. CONCLUSION: Communication guidelines for caregivers of children with ASD (AUTISM SPECTRUM DISORDER) (Autism Spectrum Disorder) contributed to the understanding of the communicative process in different situations, by detecting differences in their perception of the communication functionality of their children.
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7. Brookman-Frazee L, Roesch S, Chlebowski C, Baker-Ericzen M, Ganger W. {{Effectiveness of Training Therapists to Deliver An Individualized Mental Health Intervention for Children With ASD in Publicly Funded Mental Health Services: A Cluster Randomized Clinical Trial}}. {JAMA Psychiatry};2019 (Mar 6)
Importance: Publicly funded mental health services play an important role in addressing co-occurring mental health problems in children with autism spectrum disorder (ASD); however, therapists report lacking training to effectively serve this complex population. Objective: To test the effectiveness of training community therapists in An Individualized Mental Health Intervention for ASD (AIM HI) on challenging behaviors across 18 months among children with ASD and identify moderators and mediators of any intervention effects. Design, Setting, and Participants: Cluster randomized trial conducted in 29 publicly funded outpatient and school-based mental health programs in southern California from 2012 to 2017. Programs were randomized to receive immediate AIM HI training or provide usual care followed by receipt of AIM HI training. Therapist participants were recruited from enrolled programs, and child participants were recruited from participant therapists’ caseloads. Data were analyzed from 202 children with ASD who were aged 5 to 13 years. Interventions: The AIM HI protocol is a package of parent-mediated and child-focused strategies aimed to reduce challenging behaviors in children with ASD who are 5 to 13 years old. It was designed for delivery in publicly funded mental health services based on a systematic assessment of therapist training needs and child clinical needs. The therapist training and consultation process takes approximately 6 months and includes an introductory workshop, 11 structured consultation meetings as the therapist delivers AIM HI with a current client, and case-specific performance feedback from trainers. Main Outcomes and Measures: Child participants were assessed for challenging behaviors using the Eyberg Child Behavior Inventory (ECBI) and Social Skills Improvement System (SSIS) Competing Problem Behaviors scales based on parent report at baseline and at 6-month intervals for 18 months. Outcomes were analyzed using intent-to-treat models. Results: In total, 202 children with ASD (mean [SD] age, 9.1 [2.4] years; 170 [84.2%] male; 121 [59.9%] Latinx) were eligible, enrolled, and included in the analyses. Statistically significant group by time interactions for the ECBI Intensity (B = -0.38; P = .02) and ECBI Problem (B = -1.00; P = .005) scales were observed, with significantly larger decreases in ECBI Intensity scores in the AIM HI group (B = -1.36; P < .001) relative to the usual care group (B = -0.98; P < .001) and a significantly larger decrease in ECBI Problem scores in the AIM HI group (B = -1.22; P < .001) relative to the usual care group (B = -0.20; P = .29). Therapist fidelity moderated these intervention effects. Conclusions and Relevance: The present findings support the effectiveness of training therapists to deliver the AIM HI model to children with ASD receiving publicly funded mental health services. Trial Registration: ClinicalTrials.gov Identifier: NCT02416323. Lien vers le texte intégral (Open Access ou abonnement)
8. Chiang WC, Tseng MH, Fu CP, Chuang IC, Lu L, Shieh JY. {{Exploring Sensory Processing Dysfunction, Parenting Stress, and Problem Behaviors in Children With Autism Spectrum Disorder}}. {Am J Occup Ther};2019 (Jan/Feb);73(1):7301205130p7301205131-7301205130p7301205110.
OBJECTIVE: We examined problem behavior in preschool- and school-age children with autism spectrum disorder and assessed whether sensory processing dysfunction (SPD) and parenting stress were differentially associated with problem behaviors in these groups of children. METHOD: Participants were 101 preschool- and 61 school-age children. An independent t test was used to examine group differences in problem behaviors. Pearson correlation analysis and multiple linear regression were conducted to identify associations among SPD, parenting stress, and problem behaviors. RESULTS: Preschool children had more social withdrawal than school-age children. Moderately negative correlations were found between SPD and problem behaviors among preschool children. Parenting stress was a factor associated with problem behaviors in both groups, whereas SPD was a factor specific to preschoolers. CONCLUSION: Understanding unique problem behaviors and the significant role of SPD and parenting stress in problem behaviors could help occupational therapy clinicians plan interventions accordingly.
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9. Cogne B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjold M, Shashi V, Gerkes EH, Bongers E, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla OL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk OL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denomme-Pichon AS, Ferec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bezieau S, Kury S, Campeau PM. {{Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability}}. {Am J Hum Genet};2019 (Mar 7);104(3):530-541.
Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is controlled by histone acetyltransferases (HATs/KATs) found in multiprotein complexes that are recruited to chromatin by the scaffolding subunit transformation/transcription domain-associated protein (TRRAP). TRRAP is evolutionarily conserved and is among the top five genes intolerant to missense variation. Through an international collaboration, 17 distinct de novo or apparently de novo variants were identified in TRRAP in 24 individuals. A strong genotype-phenotype correlation was observed with two distinct clinical spectra. The first is a complex, multi-systemic syndrome associated with various malformations of the brain, heart, kidneys, and genitourinary system and characterized by a wide range of intellectual functioning; a number of affected individuals have intellectual disability (ID) and markedly impaired basic life functions. Individuals with this phenotype had missense variants clustering around the c.3127G>A p.(Ala1043Thr) variant identified in five individuals. The second spectrum manifested with autism spectrum disorder (ASD) and/or ID and epilepsy. Facial dysmorphism was seen in both groups and included upslanted palpebral fissures, epicanthus, telecanthus, a wide nasal bridge and ridge, a broad and smooth philtrum, and a thin upper lip. RNA sequencing analysis of skin fibroblasts derived from affected individuals skin fibroblasts showed significant changes in the expression of several genes implicated in neuronal function and ion transport. Thus, we describe here the clinical spectrum associated with TRRAP pathogenic missense variants, and we suggest a genotype-phenotype correlation useful for clinical evaluation of the pathogenicity of the variants.
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10. Hall DA, Stebbins GT, Jacquemont S, Berry-Kravis E, Goetz CG, Hagerman R, Zhang L, Leehey MA. {{Clinimetric Properties of the Fragile X-associated Tremor Ataxia Syndrome Rating Scale}}. {Mov Disord Clin Pract};2019 (Feb);6(2):120-124.
Background: There are currently no proven treatments for fragile X-associated tremor and ataxia syndrome (FXTAS). Validated outcome measures are needed in order to plan and conduct clinical trials to aid in the development of therapy. Methods: This study examined the reliability and construct validity of the FXTAS Rating Scale. The study was conducted by using ratings from movement disorder specialists, who were blinded to gene status, on the FXTAS Rating Scale. Results: In 295 premutation carriers with and without FXTAS, 33 scale items showed a high level of overall reliability, adequate item-to-total correlations and construct validity. Factor analysis revealed four components. Conclusions: The result demonstrates that many items in the scale meet standard clinimetric criteria, but modification of the scale improved the overall utility.
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11. Hickey EJ, Hartley SL, Papp L. {{Psychological Well-Being and Parent-Child Relationship Quality in Relation to Child Autism: An Actor-Partner Modeling Approach}}. {Fam Process};2019 (Mar 7)
Parents of children with autism spectrum disorder (ASD) often report poor psychological well-being, including a high level of parenting stress and depressive symptoms. Little is known about the extent to which poor parent psychological well-being alters the emotional quality of the parent-child relationship in a context of child ASD. This study examined the association between actor (one’s own) and partner (one’s partner’s) level of parenting stress and depressive symptoms and the emotional quality of the parent-child relationship using a Five Minute Speech Sample (FMSS) in 150 families of children with ASD, aged 5-12 years (85.7% male). Mothers and fathers were aged 38.69 (SD = 5.62) and 40.76 (SD = 6.19), respectively; 76% of mothers and 68% of fathers had a college degree. Structural equation modeling, using Analysis of Moment Structures software, was used to test Actor-Partner Interdependence Models. Results indicated that mother’s level of parenting stress and depressive symptoms were associated with her own FMSS Warmth and Criticism toward the child with ASD 12 months later in negative and positive directions. Mother’s level of parenting stress was also negatively associated with father’s FMSS Warmth toward the child with ASD 12 months later. Finally, father’s level of parenting stress was positively associated with his FMSS Criticism toward the child with ASD. Overall, findings indicate that the mother-child and father-child relationship are both impacted by parent psychological well-being in families of children with ASD; however, actor effects are stronger for mothers and partner effects were only found for fathers. Implications for interventions are discussed.
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12. Hutchison SM, Muller U, Iarocci G. {{Parent Reports of Executive Function Associated with Functional Communication and Conversational Skills Among School Age Children With and Without Autism Spectrum Disorder}}. {J Autism Dev Disord};2019 (Mar 7)
Despite average or above cognitive and verbal abilities, many children with autism spectrum disorder (ASD) experience difficulties in functional and social communication. Executive functioning (EF) may be the cognitive and regulatory mechanism that underlies these difficulties. Parents rated 92 children with ASD as demonstrating significantly more challenges than 94 typically developing children on measures of EF (Behavior Rating Inventory of Executive Function; BRIEF), functional communication (FC), and verbal conversation (VC) skills. For both groups, the BRIEF metacognition scale emerged as a strong predictor of FC, while the BRIEF behavior regulation and the inhibit scale were predictive of VC skills. These findings suggest that targeting EF domains specifically may improve FC and VC skills in children with ASD.
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13. Janecka M, Sandin S, Reichenberg A. {{Autism Risk and Serotonin Reuptake Inhibitors-Reply}}. {JAMA Psychiatry};2019 (Mar 6)
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14. Kieckhafer C, Felsenheimer AK, Rapp AM. {{A New Test for Irony Detection: The Influence of Schizotypal, Borderline, and Autistic Personality Traits}}. {Front Psychiatry};2019;10:28.
Irony has repeatedly been suggested as a language based social cognition task. It has been argued to show specific variances in psychiatric disorders and healthy adults with certain personality traits. Above that, irony comprehension is based on a complex interplay of the informational context, the relationship of the conversational partners, and the personality of the recipient. The present study developed a video-based German language test for a systematic examination of irony detection accuracy (Tuerony). The test includes (i) a stereotypical conversation partner (doctor, actor) in (ii) different perspectives (direct interaction, neutral observer) and (iii) a bilateral chat history on a conventional messenger service interface with ironic criticism, ironic praise, literal criticism, and literal praise. Based on the continuous approach of psychiatric symptoms, schizotypal, borderline, and autistic personality traits were associated with irony detection accuracy in a healthy sample. Given the often reported role of mentalization in irony detection, these associations were also investigated. First, a broad variance of irony comprehension in our healthy sample could be shown. Second, schizotypal and borderline, but not autistic traits were significantly negatively associated with irony detection accuracy. Finally, in the current healthy sample, neither variation of the conversational context nor mentalization characteristics were significantly associated with performance beyond personality traits. The current results therefore highlight two aspects for future research in irony comprehension: the importance of ecological valid tests and the role of the individual personality of the recipient.
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15. Kuhn JL, Vanegas SB, Salgado R, Borjas SK, Magana S, Smith DaWalt L. {{The Cultural Adaptation of a Transition Program for Latino Families of Youth with Autism Spectrum Disorder}}. {Fam Process};2019 (Mar 7)
During the transition to adulthood, effective and culturally relevant supports are critical for families of youth with autism spectrum disorder (ASD). There is a dearth of documented program development and research on supports for Spanish-speaking Latino families during this life stage. The present work describes the cultural adaptation process of an evidence-based transition program for Latino families of youth with ASD. A model of the actions necessary to meaningfully conduct a cultural adaptation in this context is described. After implementing the culturally adapted program titled Juntos en la Transicion with five Spanish-speaking families, parents reported high social validity of the program through surveys and interviews. The cultural adaptation process followed in this work is important for the further development of programs that address the transition needs of Latino youth with ASD and their families. Our impressions may also be useful to those who aim to develop culturally sensitive and ecologically valid multifamily group intervention programs for families from cultural and linguistic minority groups.
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16. Lai SS, Tsai CH, Wu CC, Chen CT, Li HJ, Chen KL. {{Identifying the Cognitive Correlates of Reciprocity in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2019 (Mar 7)
This study examined the cognitive correlates of reciprocity in children with autism spectrum disorder (ASD). A total of 59 children with ASD were assessed with the Interactive Drawing Task, Theory of Mind Task Battery, Children’s Card Change Sort Task, and Children’s Gambling Task respectively for their reciprocity, theory of mind, cool executive function (EF), and hot EF. The correlational findings revealed that cool EF (r = .482 and – .501, p < .01) and hot EF (r = .396, p < .05) were significantly correlated with children's total reciprocity. The regression models also showed that cool and hot EF abilities were significant predictors. Conclusively, cool and hot EF abilities are the correlates of reciprocity rather than of ToM in children with ASD. Lien vers le texte intégral (Open Access ou abonnement)
17. Lau WKW, Leung MK, Lau BWM. {{Resting-state abnormalities in Autism Spectrum Disorders: A meta-analysis}}. {Sci Rep};2019 (Mar 7);9(1):3892.
The gold standard for clinical assessment of Autism Spectrum Disorders (ASD) relies on assessing behavior via semi-structured play-based interviews and parent interviews. Although these methods show good sensitivity and specificity in diagnosing ASD cases, behavioral assessments alone may hinder the identification of asymptomatic at-risk group. Resting-state functional magnetic resonance imaging (rs-fMRI) could be an appropriate approach to produce objective neural markers to supplement behavioral assessments due to its non-invasive and task-free nature. Previous neuroimaging studies reported inconsistent resting-state abnormalities in ASD, which may be explained by small sample sizes and phenotypic heterogeneity in ASD subjects, and/or the use of different analytical methods across studies. The current study aims to investigate the local resting-state abnormalities of ASD regardless of subject age, IQ, gender, disease severity and methodological differences, using activation likelihood estimation (ALE). MEDLINE/PubMed databases were searched for whole-brain rs-fMRI studies on ASD published until Feb 2018. Eight experiments involving 424 subjects were included in the ALE meta-analysis. We demonstrate two ASD-related resting-state findings: local underconnectivity in the dorsal posterior cingulate cortex (PCC) and in the right medial paracentral lobule. This study contributes to uncovering a consistent pattern of resting-state local abnormalities that may serve as potential neurobiological markers for ASD.
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18. Little LM, Rojas JP, Bard A, Luo Y, Irvin D, Rous B. {{Automated Measures to Understand Communication Opportunities for Young Children With Autism in the Community: A Pilot Study}}. {OTJR (Thorofare N J)};2019 (Mar 7):1539449219834911.
Community participation is vital to children’s development and provides opportunities to practice social communication skills. Although previous studies suggest that young children with autism spectrum disorders (ASD) experience decreased community participation, there is little empirical evidence on the precise patterns of participation that may influence social communication opportunities. Therefore, this pilot study investigated the communication among families of children with ASD ( n = 5) versus typical development (TD; n = 5) across various community locations. We used automated, objective measures: the Language ENvironmental Analysis (LENA) system to measure the amount of communication and integrated this with a Global Positioning System (GPS; that is, Qstarz) to measure community location. Results showed that families of children with ASD and TD spent a similar amount of time in community locations; however, there were differences in the amount of adult talk directed toward children with ASD versus TD across community locations. Findings suggest that automated measures may be successfully integrated to quantify social communication during community participation.
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19. Masuda F, Nakajima S, Miyazaki T, Yoshida K, Tsugawa S, Wada M, Ogyu K, Croarkin PE, Blumberger DM, Daskalakis ZJ, Mimura M, Noda Y. {{Motor cortex excitability and inhibitory imbalance in autism spectrum disorder assessed with transcranial magnetic stimulation: a systematic review}}. {Transl Psychiatry};2019 (Mar 7);9(1):110.
Cortical excitation/inhibition (E/I) imbalances contribute to various clinical symptoms observed in autism spectrum disorder (ASD). However, the detailed pathophysiologic underpinning of E/I imbalance remains uncertain. Transcranial magnetic stimulation (TMS) motor-evoked potentials (MEP) are a non-invasive tool for examining cortical inhibition in ASD. Here, we conducted a systematic review on TMS neurophysiology in motor cortex (M1) such as MEPs and short-interval intracortical inhibition (SICI) between individuals with ASD and controls. Out of 538 initial records, we identified six articles. Five studies measured MEP, where four studies measured SICI. There were no differences in MEP amplitudes between the two groups, whereas SICI was likely to be reduced in individuals with ASD compared with controls. Notably, SICI largely reflects GABA(A) receptor-mediated function. Conversely, other magnetic resonance spectroscopy and postmortem methodologies assess GABA levels. The present review demonstrated that there may be neurophysiological deficits in GABA receptor-mediated function in ASD. In conclusion, reduced GABAergic function in the neural circuits could underlie the E/I imbalance in ASD, which may be related to the pathophysiology of clinical symptoms of ASD. Therefore, a novel treatment that targets the neural circuits related to GABA(A) receptor-mediated function in regions involved in the pathophysiology of ASD may be promising.
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20. Qin B, Wang L, Zhang Y, Cai J, Chen J, Li T. {{Corrigendum: Enhanced Topological Network Efficiency in Preschool Autism Spectrum Disorder: A Diffusion Tensor Imaging Study}}. {Front Psychiatry};2019;10:68.
[This corrects the article DOI: 10.3389/fpsyt.2018.00278.].
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21. Schmidt EK, Hand BN, Simpson KN, Darragh AR. {{Sexually transmitted infections in privately insured adults with intellectual and developmental disabilities}}. {J Comp Eff Res};2019 (Mar 6)
AIM: Individuals with intellectual and developmental disabilities (I/DD) may have an increased risk of sexually transmitted infections (STIs) due to limited sexual health education and higher rates of sexual abuse, yet little is known about the prevalence of STIs and STI testing in this population. METHODS: This study compared national samples of privately insured individuals with (n = 25,193) and without I/DD (n = 25,193) on the prevalence of STIs and STI testing. RESULTS: In multivariable models, individuals with I/DD were significantly less likely to have an STI diagnosis and no difference was found between groups on the odds of STI testing overall. CONCLUSION: Findings may, in part, be explained by fewer sexual experiences, increased supervision in social settings and delayed onset of sexual activity among those with I/DD.
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22. Shields MC, Akobirshoev I, Dembo RS, Mitra M. {{Self-Injurious Behavior Among Adults With ASD: Hospitalizations, Length of Stay, and Costs of Resources to Deliver Care}}. {Psychiatr Serv};2019 (Mar 7):appips201800318.
OBJECTIVE:: Research on hospitalizations related to self-injurious behavior and ideation among adults with autism spectrum disorder (ASD) is limited. This study compared admissions, average length of stay, and costs of resources to deliver care for such hospitalizations between adults with and without ASD. METHODS:: The 2014 Healthcare Cost and Utilization Project National Inpatient Sample was used to compare 5,341 discharge records for adults with ASD and 16,023 records for adults without ASD, matched on age and gender in a 1:3 ratio. Hierarchical logistic and linear regressions accounted for clustering by hospital. Covariates included gender, race-ethnicity, age, region, comorbidities, number of procedures, and insurance. RESULTS:: Among hospitalized adults, those with ASD were twice as likely as those without ASD to have a hospitalization related to self-injurious behavior and ideation. Among hospital stays for self-injurious behavior and ideation, adults with ASD had average lengths of stay that were 2.14 days longer (95% confidence interval [CI]=1.20-3.08) compared with adults without ASD. Among adults with a hospitalization related to self-injurious behavior and ideation, unadjusted average costs for those with ASD were 36.8% higher than for adults without ASD. After the analysis accounted for covariates and length of stay, adults with ASD still had 7.48% (95% CI=1.05%-14.32%) higher costs. CONCLUSIONS:: Adults with ASD were twice as likely as adults without ASD to have a hospitalization related to self-injurious behavior and ideation. Among adults with such a hospitalization, those with ASD had longer stays and, even after the analysis accounted for length of stay, higher costs.
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23. Turowetz J, Maynard DW. {{Documenting diagnosis: testing, labelling, and the production of medical records in an autism clinic}}. {Sociol Health Illn};2019 (Mar 5)
All diagnosis depends on communication between doctors and patients. This is especially so with behavioural disorders such as autism, where structured interactions involving clinicians and children (e.g. standardised tests) play a key role in diagnosing the condition. Although such interactions are collaborative, we find that when reporting test results, clinicians, following administrative protocols, routinely gloss over the embodied interactions constitutive of testing, such that autism is predicated as an inherent feature of the child. In ethnomethodological terms, this is related to the way that « accounts » (Garfinkel ), including diagnoses, are reflexively related to the taken-for-granted practices that make them objectively reportable in prevailing professional terms. These practices include how the clinicians themselves interact with children they examine, with other professionals, and with the instruments used to test a child. Examining video footage of a multi-stage autism evaluation, along with the medical report rendering the child’s diagnosis, we show how reporting practices, while addressing the administrative features of standardised testing and diagnosis, can also be examined for their grounding in an environment of tacit matters usually unavailable for inspection. We conclude by asking whether, and how, oral and written reports might re-situate children in the concreteness of their social environments.
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24. Velinov M. {{Genomic Copy Number Variations in the Autism Clinic-Work in Progress}}. {Front Cell Neurosci};2019;13:57.
The development of advanced technology for microarray-based chromosomal studies helped discover increased prevalence of genomic copy number variants (CNVs) in individuals with autism spectrum disorder (ASD). Chromosomal microarray analysis (CMA) is now an important tool for clinical investigations in patients with ASD. While this technology helps identify high proportion of CNV positive individuals among patients with autism, the clinical interpretation of such genomic rearrangements is often challenged by inconsistent genotype-phenotype correlations. Possible explanations of such inconsistencies may involve complex interactions of potentially pathogenic CNV with additional (secondary) CNVs or single nucleotide variants (SNVs). Other involved factors may include gender-specific effects or environmental contributions. Development of risk models for interpreting such complex interactions may be necessary in order to provide better informed genetic counseling to the affected families.
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25. Vershkov D, Fainstein N, Suissa S, Golan-Lev T, Ben-Hur T, Benvenisty N. {{FMR1 Reactivating Treatments in Fragile X iPSC-Derived Neural Progenitors In Vitro and In Vivo}}. {Cell Rep};2019 (Mar 5);26(10):2531-2539 e2534.
Fragile X syndrome (FXS) is caused primarily by a CGG repeat expansion in the FMR1 gene that triggers its transcriptional silencing. In order to investigate the regulatory layers involved in FMR1 inactivation, we tested a collection of chromatin modulators for the ability to reactivate the FMR1 locus. Although inhibitors of DNA methyltransferase (DNMT) induced the highest levels of FMR1 expression, a combination of a DNMT inhibitor and another compound potentiated the effect of reactivating treatment. To better assess the rescue effect following direct demethylation, we characterized the long-term and genome-wide effects of FMR1 reactivation and established an in vivo system to analyze FMR1-reactivating therapies. Systemic treatment with a DNMT inhibitor in mice carrying FXS induced pluripotent stem cell (iPSC)-derived transplants robustly induced FMR1 expression in the affected tissue, which was maintained for a prolonged period of time. Finally, we show a proof of principle for FMR1-reactivating therapy in the context of the CNS.
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26. Wang K, Xu M, Ji Y, Zhang L, Du X, Li J, Luo Q, Li F. {{Altered social cognition and connectivity of default mode networks in the co-occurrence of autistic spectrum disorder and attention deficit hyperactivity disorder}}. {Aust N Z J Psychiatry};2019 (Mar 7):4867419836031.
OBJECTIVE:: As two common neurodevelopmental disorders, autistic spectrum disorder and attention deficit hyperactivity disorder frequently occur together. Until now, only a few studies have investigated the co-occurrence of attention deficit hyperactivity disorder and autistic spectrum disorder, this is due to restrictions associated with previous Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision. Most previous research has focused on the developmental trajectories for autistic spectrum disorder and attention deficit hyperactivity disorder separately, while the neural mechanisms underpinning the co-occurrence of autistic spectrum disorder and attention deficit hyperactivity disorder remain largely unknown. METHODS:: We studied 162 autistic spectrum disorder individuals (including 79 co-attention deficit hyperactivity disorder and 83 non-attention deficit hyperactivity disorder patients) and 177 typical developing individuals using resting-state functional magnetic resonance imaging data from the Autism Brain Imaging Data Exchange II, an aggregated magnetic resonance imaging dataset from 19 centers. Independent component analysis was used to extract sub-networks from the classic resting-state networks. Functional connectivity values within (intra-iFC) and between (inter-iFC) these networks were then determined. Subsequently, we compared the ASD_coADHD group with the ASD_nonADHD group in relation to the abnormal intra-iFC and inter-iFC of autistic spectrum disorder group relative to the typical developing group. RESULTS:: The ASD_coADHD group showed more severe social impairment and decreased intra-iFC in the bilateral posterior cingulate cortex of the default mode network (independent component 17) and increased inter-iFC between the default mode network (independent component 8) and the somatomotor networks (independent component 2) compared to the ASD_nonADHD group. In addition, the strength of the intra-iFC in the default mode network was associated with the severity of autistic traits across the entire autistic spectrum disorder group and particularly the ASD_coADHD group. CONCLUSION:: Our results showed that dysfunction of the default mode network is a central feature in the co-occurrence of autistic spectrum disorder and attention deficit hyperactivity disorder, including connectivity within the default mode network as well as between the default mode network and the somatomotor networks, thus supporting the existence of a clinically combined phenotype (autistic spectrum disorder + attention deficit hyperactivity disorder).
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27. Wright MF, Wachs S. {{Does Peer Rejection Moderate the Associations among Cyberbullying Victimization, Depression, and Anxiety among Adolescents with Autism Spectrum Disorder?}}. {Children (Basel)};2019 (Mar 4);6(3)
While the consequences of cyberbullying victimization have received some attention in the literature, to date, little is known about the multiple types of strains in adolescents’ lives, such as whether cyberbullying victimization and peer rejection increase their vulnerability to depression and anxiety. Even though some research found that adolescents with disabilities show higher risk for cyberbullying victimization, most research has focused on typically developing adolescents. Thus, the present study focused on examining the moderating effect of peer rejection in the relationships between cyberbullying victimization, depression, and anxiety among adolescents with autism spectrum disorder. There were 128 participants (89% male; ages ranging from 11(-)16 years old) with autism spectrum disorder in the sixth, seventh, or eighth grade at 16 middle schools in the United States. Participants completed questionnaires on cyberbullying victimization, peer rejection, depression, and anxiety. Results revealed that cyberbullying victimization was associated positively with peer rejection, anxiety, and depression among adolescents with autism spectrum disorder. Further, peer rejection was linked positively with depression and anxiety. Peer rejection moderated the positive relationship between cyberbullying victimization and depression, but not anxiety. Implications for prevention programs and future research are discussed.
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28. Young A, Ferguson-Coleman E, Wright B, Le Couteur A. {{Parental Conceptualizations of Autism and Deafness in British Deaf Children}}. {J Deaf Stud Deaf Educ};2019 (Mar 6)
The co-occurrence of childhood deafness and autism raises complex challenges for diagnosis and family support. In this article, we explore with hearing and Deaf parents their observations of the interaction between deafness and autism and identify how the intersections of deafness and autism are conceptualized in everyday life. Eight parents participated (two of whom were Deaf BSL users) in semi-structured interviews in either BSL or spoken English. Data analysis was underpinned by a phenomenological approach in the hermeneutic tradition. Findings are discussed in terms of parents’ perceptions of the relevance of deafness to their understanding of autism for their particular child, the effects of autism on sign and spoken language development and the relationship between deafness and autism in terms of their own and others’ attributions of their children’s characteristics. The significance of the findings for parental contributions’ to diagnostic assessment and the tailoring of family support are considered.
