1. Blazquez Hinojosa A, Lazaro Garcia L, Puig Navarro O, Varela Bondelle E, Calvo Escalona R. {{Sensitivity and specificity of DSM-5 diagnostic criteria for autism spectrum disorder in a child and adolescent sample}}. {Rev Psiquiatr Salud Ment};2019 (Dec 18)
BACKGROUND: Controversy exists regarding the DSM-5 criteria for autism spectrum disorders (ASD). Given the mixed results that have been reported, our main aim was to determine DSM-5 sensitivity and specificity in a child and adolescent Spanish sample. As secondary goals, we assessed the diagnostic stability of DSM-IV-TR in DSM-5, and clinical differences between children diagnosed with an ASD or a social (pragmatic) communication disorder (SPCD). METHODS: This study was carried out in 2017, reviewing the medical records of patients evaluated in our service. Items from a parent report measure of ASD symptoms (Autism Diagnostic Interview-Revised) were matched to DSM-5 criteria and used to assess the sensitivity and specificity of the DSM-5 criteria and current DSM-IV criteria when compared with clinical diagnoses. RESULTS: DSM-5 sensitivity ranged from 0.69 to 1.00, and was higher in females. By age, the DSM-5 and DSM-IV-TR criteria showed similar sensitivity. In the case of intellectual quotient, DSM-5 criteria sensitivity was lower for those in the « low-functioning » category. DSM-5 specificity ranged from 0.64 to 0.73, while DSM-5 specificity was similar for all phenotypic subgroups. With respect to stability, 83.3% of autism disorder cases retained a diagnosis of ASD using the DSM-5 criteria. With regard to differences between ASD and SPCD, we found that patients diagnosed with ASD received more pharmacological treatment than those diagnosed with SPCD. CONCLUSIONS: Further research is required to confirm our results. Studies focusing on the SPCD phenotype will be necessary to determine outcome differences with ASD and the most effective diagnostic and therapeutic tools.
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2. Breuss MW, Antaki D, George RD, Kleiber M, James KN, Ball LL, Hong O, Mitra I, Yang X, Wirth SA, Gu J, Garcia CAB, Gujral M, Brandler WM, Musaev D, Nguyen A, McEvoy-Venneri J, Knox R, Sticca E, Botello MCC, Uribe Fenner J, Perez MC, Arranz M, Moffitt AB, Wang Z, Hervas A, Devinsky O, Gymrek M, Sebat J, Gleeson JG. {{Autism risk in offspring can be assessed through quantification of male sperm mosaicism}}. {Nat Med};2019 (Dec 23)
De novo mutations arising on the paternal chromosome make the largest known contribution to autism risk, and correlate with paternal age at the time of conception. The recurrence risk for autism spectrum disorders is substantial, leading many families to decline future pregnancies, but the potential impact of assessing parental gonadal mosaicism has not been considered. We measured sperm mosaicism using deep-whole-genome sequencing, for variants both present in an offspring and evident only in father’s sperm, and identified single-nucleotide, structural and short tandem-repeat variants. We found that mosaicism quantification can stratify autism spectrum disorders recurrence risk due to de novo mutations into a vast majority with near 0% recurrence and a small fraction with a substantially higher and quantifiable risk, and we identify novel mosaic variants at risk for transmission to a future offspring. This suggests, therefore, that genetic counseling would benefit from the addition of sperm mosaicism assessment.
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3. Clipperton-Allen AE, Page DT. {{Connecting Genotype with Behavioral Phenotype in Mouse Models of Autism Associated with PTEN Mutations}}. {Cold Spring Harb Perspect Med};2019 (Dec 23)
A subset of individuals with autism spectrum disorder (ASD) and macrocephaly carry mutations in the gene PTEN. Animal models, particularly mice, have been helpful in establishing a causal role for Pten mutations in autism-relevant behavioral deficits. These models are a useful tool for investigating neurobiological mechanisms of these behavioral phenotypes and developing potential therapeutic interventions. Here we provide an overview of various genetic mouse models that have been used to characterize behavioral phenotypes caused by perturbation of Pten We discuss convergent and divergent phenotypes across models with the aim of highlighting a set of behavioral domains that are sensitive to the effects of Pten mutation and that may provide useful readouts for translational and basic neuroscience research.
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4. Dimitrova N, Mohr C, Ozcaliskan S, Adamson LB. {{Early Lateralization of Gestures in Autism: Right-Handed Points Predict Expressive Language}}. {J Autism Dev Disord};2019 (Dec 23)
Children with autism spectrum disorder (ASD) produce fewer deictic gestures, accompanied by delays/deviations in speech development, compared to typically-developing (TD) children. We ask whether children with ASD-like TD children-show right-hand preference in gesturing and whether right-handed gestures predict their vocabulary size in speech. Our analysis of handedness in gesturing in children with ASD (n = 23, Mage = 30-months) and with TD (n = 23, Mage = 18-months) during mother-child play showed a right-hand preference for TD children-but not for children with ASD. Nonetheless, right-handed deictic gestures predicted expressive vocabulary 1 year later in both children with ASD and with TD. Handedness for gesture, both hand preference and amount of right-handed pointing, may be an important indicator of language development in autism and typical development.
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5. Jahng KE. {{South Korean mothers’ childhood abuse experience and their abuse of their children with intellectual and developmental disabilities: Moderating effect of parenting self-efficacy}}. {Child Abuse Negl};2019 (Dec 19);101:104324.
BACKGROUND: A history of childhood abuse has been found to adversely affect the transition to motherhood. Compared to other children, children with intellectual and developmental disabilities are at higher risk of being maltreated at home. However, maternal parenting self-efficacy has been found to improve mothers’ positive interactions with their children. OBJECTIVE: Given that, this study examined the moderating effect of maternal parenting self-efficacy on the relationship between mothers’ childhood abuse experience and their abuse of their children with IDDs. PARTICIPANTS AND SETTING: Participants include 134 South Korean mothers with children between 2 and 8 years of age with intellectual and developmental disabilities. METHOD: Mothers’ childhood abuse experience was assessed using the Childhood Trauma Questionnaire, which measures the extent of mothers’ exposure to parental abuse in their childhood. Parenting self-efficacy was measured using the Echelle Globle du Sentiment de Competence Parentale (EGSCP). The Abusive Parenting scale was used to assess mothers’ abusive parenting; it measured the degree to which mothers had ever either physically or emotionally abused their children. RESULTS: The moderating effects of parenting self-efficacy on the relationships between childhood emotional abuse and abusive parenting (B = -.06, t(126) = -2.33, p = .022, 95 % CI[-.1142, -.0092]) and between childhood physical abuse and abusive parenting (B = -.07, t(126) = -2.64, p = .009, 95 % CI[-.1283, -.0184]) were significant. CONCLUSIONS: These findings emphasize the importance of helping mothers with a history of abuse alleviate parental stress arising from raising children with IDDs by enhancing their parenting self-efficacy.
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6. Landsiedel J, Williams DM. {{Increasing Extrinsic Motivation Improves Time-Based Prospective Memory in Adults with Autism: Relations with Executive Functioning and Mentalizing}}. {J Autism Dev Disord};2019 (Dec 21)
Time-based prospective memory (PM) is diminished under various task demands in individuals with autism spectrum disorder (ASD). However, it is still unclear what underpins their impairment or how it could be remediated. This study explored whether instructions to prioritise one element of a PM task over another improved performance in adults with ASD (compared to a group of matched neurotypical adults), and how that is related to cognitive abilities. Results indicated that importance instructions significantly improved the PM performance of participants with ASD. Moreover, the extent of the benefit was associated significantly with objectively-measured executive set-shifting ability and self-reported inhibitory control ability (the poorer the set-shifting/inhibitory control, the greater the benefit). Implications for future research and clinical practice are discussed.
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7. Locke J, Kang-Yi C, Frederick L, Mandell DS. {{Individual and organizational characteristics predicting intervention use for children with autism in schools}}. {Autism};2019 (Dec 23):1362361319895923.
LAY ABSTRACT: Several interventions or treatment programs have been shown through research to improve social outcomes for children with autism, but they often are not used in schools. This study examined individual (school personnel) and organizational (school level) factors associated with the use of a research-informed social engagement intervention, Remaking Recess, for children with autism in elementary schools. A total of 28 school personnel from 12 schools in 5 districts in the northeastern United States participated. Schools were randomly assigned to (1) training in Remaking Recess only or (2) training in Remaking Recess with implementation support (tailored strategies to remove barriers to increase use of Remaking Recess). School personnel rated their attitudes about research-informed interventions, organizational readiness (school’s readiness to use a research-informed intervention), and fidelity or the degree to which an intervention is used as it was originally designed. Observers rated school personnel’s fidelity at baseline (pre-intervention training) and exit (post-intervention training). The results suggest that self-rated fidelity was lower when staff perceived the use of Remaking Recess was required; however, observer-rated fidelity was lower when staff rated Remaking Recess as appealing. In addition, self-rated fidelity was higher when there was a sufficient number of staff, positive individual growth, and organizational adaptability. The results also indicated higher observer-rated fidelity when staff perceived positive influence over their coworkers. The results suggest that both individual (attitudes) and organizational (influence, staffing, growth, adaptability) characteristics may affect implementation success in schools. A collaborative decision-making approach for evidence-based practice use is recommended.
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8. Morrow EM. {{Paternal sperm DNA mosaicism and recurrence risk of autism in families}}. {Nat Med};2019 (Dec 23)
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9. Pavlopoulou G, Dimitriou D. {{In their own words, in their own photos: Adolescent females’ siblinghood experiences, needs and perspectives growing up with a preverbal autistic brother or sister}}. {Res Dev Disabil};2019 (Dec 23);97:103556.
Thus far very little research has focused on siblings in early adolescent years growing up with an autistic sibling. Adopting a community-based participatory research (CBPR) approach, 11 typically developing sisters actively collaborated in the study to collect and analyse data as well as disseminate their experiences, needs and perspectives in their local communities. This is the first study to use a modified Photovoice methodology which provided typically developing sisters an active participatory role. The results highlighted the feelings, needs and thoughts the sisters expressed in their role as siblings, friends, but also as students and citizens with a passion for advocacy, and limited support in the community due to unhelpful attitudes of members of their community towards autism. The findings indicated that the current method used can successfully co-generate research findings with family members by ensuring pathways for engaging local community. This is crucial in shifting the balance between vulnerability and resilience in families raising an autistic child. Furthermore, when knowledge about the lived experience is drawn directly from the perspective of the actual people (siblings) involved in the phenomenon (siblinghood and autism), a more appropriate, responsive and need-fulfilling strategy of supportive and proactive support systems can be initiated.
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10. Schoenberger A, Capal JK, Ondracek A, Horn PS, Murray D, Byars AW, Pearson DA, Williams ME, Bebin M, Northrup H, Wu JY, Sahin M, Krueger DA. {{Language predictors of autism spectrum disorder in young children with tuberous sclerosis complex}}. {Epilepsy Behav};2019 (Dec 18):106844.
BACKGROUND: Epilepsy has previously been implicated in the development of autism spectrum disorder (ASD) in the setting of tuberous sclerosis complex (TSC). However, the role of language in this relationship is unclear, and the specific relationship between ASD, epilepsy, and language development in this population has not been well-studied. OBJECTIVES: The objectives the study were to identify the role of early language in subsequent development of ASD, evaluate the impact of epilepsy as a covariate on language development, and evaluate the relationship between epilepsy, language development, and development of ASD. METHODS: This study included 154 children ages 3-36months with TSC who were enrolled in the TSC Autism Center of Excellence Research Network (TACERN), a multicenter, prospective observational study to identify biomarkers of ASD. Developmental and autism-specific assessments were administered longitudinally. Appropriate variables from the Mullen Scales of Early Learning (MSEL), Vineland Adaptive Behavior Scales, 2nd Edition (VABS-II), and Preschool Language Scales, 5th Edition (PLS-5) were used to assess patients’ language skills. At 36months, clinical best estimate, which was based on clinical assessment and observation, was used to determine a diagnosis of ASD. RESULTS: By 12months, all language variables on the MSEL, PLS-5, and VABS-II significantly predicted an ASD diagnosis at 36months. Age at seizure onset was associated with language scores in that later seizure onset was associated with improved language scores on the MSEL, VABS-II, and PLS-5. Seizure onset prior to 6months was associated with a diagnosis of ASD at 36months. Higher seizure frequency negatively correlated with language scores at 12months and beyond. Higher seizure frequency was also associated with an ASD diagnosis at 36months. When looking at the relationship between epilepsy, language, and ASD diagnosis, by 18months, language scores were more associated with a later ASD diagnosis at 36months compared with age at seizure onset, which was a better predictor of later ASD diagnosis earlier in development. CONCLUSION: Analysis of language variables and epilepsy characteristics from 6 to 36months and ASD diagnosis at 36months revealed significant relationships between all three variables. While the direction of these relationships needs further research, epilepsy, language, and the development of ASD are integrally related in young children with TSC.
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11. Tromans S, Yao GL, Kiani R, Alexander R, Al-Uzri M, Brugha T. {{Study protocol: an investigation of the prevalence of autism among adults admitted to acute mental health wards: a cross-sectional pilot study}}. {BMJ Open};2019 (Dec 23);9(12):e033169.
INTRODUCTION: Autism spectrum disorders (ASDs) are associated with difficulties in social interaction, communication and restricted, repetitive behaviours. Much is known about their community prevalence among adults, data on adult inpatients within an acute mental health setting is lacking.This pilot study aimed to estimate the prevalence of ASDs among adults admitted to acute mental health wards and to examine the association between ASDs and psychiatric and physical comorbidities within this group. METHODS AND ANALYSIS: A multiple-phase approach will be used. Phase I will involve testing of 200 patients and corresponding informants, using the autism quotient (AQ), the informant version of the Social Responsiveness Scale, second edition-Adult, the self and informant versions of the Adult Social Behaviour Questionnaire and the EuroQol-5D-5L. Patients with intellectual disability (ID) will bypass Phase I.Phase II will involve diagnostic testing of a subgroup of 40 patients with the Diagnostic Interview for Social and Communication Disorders, the Autism Diagnostic Observation Schedule version 2 and the ASD interview within the Schedules for Clinical Assessment in Neuropsychiatry version 3. 25+/-5 patients will not have ID and be selected via stratified random sampling according to AQ score; 15+/-5 patients will have ID. Phase II patients will be interviewed with the Physical Health Conditions and Mental Illness Diagnoses and Treatment sections of the 2014 Adult Psychiatric Morbidity Survey.Prevalence estimates will be based on the proportion of Phase II participants who satisfy the 10th revision of the International Statistical Classification of Diseases and Related Health Problems Diagnostic Criteria for Research (ICD-10-DCR) and the 5th edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) diagnostic criteria for ASD, adjusting for selection and non-response. Univariate analysis will be conducted for comorbidities to identify the level of their association with an ASD diagnosis. ETHICS AND DISSEMINATION: Study oversight is provided by the University of Leicester. The National Health Service Health Research Authority have provided written approval. Study results will be disseminated via conference presentations and peer-reviewed publications. TRIAL REGISTRATION NUMBER: ISRCTN27739943.
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12. Wiggins LD, Durkin M, Esler A, Lee LC, Zahorodny W, Rice C, Yeargin-Allsopp M, Dowling NF, Hall-Lande J, Morrier MJ, Christensen D, Shenouda J, Baio J. {{Disparities in Documented Diagnoses of Autism Spectrum Disorder Based on Demographic, Individual, and Service Factors}}. {Autism Res};2019 (Dec 23)
The objectives of our study were to (a) report how many children met an autism spectrum disorder (ASD) surveillance definition but had no clinical diagnosis of ASD in health or education records and (b) evaluate differences in demographic, individual, and service factors between children with and without a documented ASD diagnosis. ASD surveillance was conducted in selected areas of Arizona, Arkansas, Colorado, Georgia, Maryland, Minnesota, Missouri, New Jersey, North Carolina, Tennessee, and Wisconsin. Children were defined as having ASD if sufficient social and behavioral deficits and/or an ASD diagnosis were noted in health and/or education records. Among 4,498 children, 1,135 (25%) had ASD indicators without having an ASD diagnosis. Of those 1,135 children without a documented ASD diagnosis, 628 (55%) were not known to receive ASD services in public school. Factors associated with not having a clinical diagnosis of ASD were non-White race, no intellectual disability, older age at first developmental concern, older age at first developmental evaluation, special education eligibility other than ASD, and need for fewer supports. These results highlight the importance of reducing disparities in the diagnosis of children with ASD characteristics so that appropriate interventions can be promoted across communities. Autism Res 2019, 00: 1-10. (c) 2019 International Society for Autism Research,Wiley Periodicals, Inc. LAY SUMMARY: Children who did not have a clinical diagnosis of autism spectrum disorder (ASD) documented in health or education records were more likely to be non-White and have fewer developmental problems than children with a clinical diagnosis of ASD. They were brought to the attention of healthcare providers at older ages and needed fewer supports than children with a clinical diagnosis of ASD. All children with ASD symptoms who meet diagnostic criteria should be given a clinical diagnosis so they can receive treatment specific to their needs.
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13. Zhou N, Wong HM, McGrath C. {{Efficacy of Social Story Intervention in Training Toothbrushing Skills Among Special-Care Children With and Without Autism}}. {Autism Res};2019 (Dec 23)
Toothbrushing is a routine practice for oral hygiene maintenance. It is also a challenging task for young children with special care needs. In this study, social stories were employed to teach toothbrushing skills for preschool children with special needs. Those children were recruited from the Special Child Care Centers, including 87 children with autism and 94 children without autism. A validated toothbrushing social story was used to demonstrate the toothbrushing procedure for all the recruited children. Parents were encouraged to show the stories to their children before or during their daily toothbrushing. Children’s toothbrushing performance, oral hygiene status, and gingival health status were assessed at baseline and 6 months. Toothbrushing performance, oral hygiene, and gingival status of the recruited children were significantly improved after using social stories. Moreover, children with autism showed better oral hygiene status (P = 0.01) and better gingival status (P < 0.001) than their peers without autism. However, there were no significant differences in the toothbrushing performance among children with and without autism. The regression models indicated that the improvement of children's toothbrushing performance and oral health status were associated with children's intellectual functioning and parents' attitudes toward the usefulness of social story intervention. The principal findings suggested that social story intervention could be used to improve toothbrushing skills among children with or without autism, while it was more efficient in improving the oral hygiene status among children with autism. Autism Res 2019, 00: 1-9. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Toothbrushing is considered as a basic self-care practice that should be advocated in early childhood. We used social stories to train toothbrushing skills among preschoolers with special care needs. The toothbrushing skills of the recruited children were significantly improved after 6-months intervention, and children with autism showed better oral hygiene status than their peers without autism. These findings suggested that social story-based health promotion could be implemented among children with special needs. Lien vers le texte intégral (Open Access ou abonnement)
