1. Bent CA, Barbaro J, Dissanayake C. {{Change in Autism Diagnoses Prior to and Following the Introduction of DSM-5}}. {J Autism Dev Disord};2016 (Nov 11)
Change over time in the age and number of children registered for autism-specific funding was examined, prior to and following introduction of the revised diagnostic criteria (the Diagnostic and Statistical Manual of Mental Disorders-fifth edition; DSM-5). De-identified data for 32,199 children aged under 7 years between 2010 and 2015 was utilised. Fluctuations were evident in the frequency and age of diagnoses, with slight increases in age of diagnosis corresponding with increases in frequency of diagnoses. The incidence of autism increased from 2010 to 2013, and then plateaued to 2015. A significant trend-relative reduction in the number of children registered to receive autism-specific funding was evident post 2013, suggesting the more stringent DSM-5 criteria may have curbed the trend of increasing diagnoses over time.
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2. Broquere M, Soussana M, Michelon C, Rattaz C, Brisot J, Baghdadli A. {{[Impact of anxiety disorders on quality of life of adolescents with autism spectrum disorder without intellectual disability]}}. {Encephale};2016 (Nov 11)
INTRODUCTION: The prevalence of anxiety disorders has been recently estimated at 42 % in a population of adolescents with autism spectrum disorder without intellectual disability. This rate is more than two times higher than in adolescents without developmental disorders (around 20 %). Besides, according to recent studies, the quality of life of adolescents with ASD without mental retardation seems to be lower than adolescents with typical development. We guess that anxiety disorders may be responsible for a low quality of life in adolescents with ASD. OBJECTIVES: The aim of this study was to describe the relationship between quality of life and anxiety disorders. The first objective was to determine if anxiety disorders are a risk factor for having a low quality of life in adolescents with ASD. The second objective was to confirm this link with another comparison using a control group of adolescents with an anxiety disorder but without ASD. Our hypothesis was that anxiety disorder is a risk factor to decrease the quality of life of adolescents with ASD. METHODS: This research was a transversal descriptive and comparative study. Sixty-six adolescents aged between 11 and 18years old were included: 46 with ASD without mental retardation and 20 controls (with anxiety disorders without ASD). Among the ASD group, 20 patients were identified as having an anxiety disorder according to international classifications of mental diseases, and 26 adolescents had no psychiatric comorbidity. Quality of Life (QoL) was reported in five domains with the KIDSCREEN-27, for each patient in the three different groups. Diagnosis of anxiety disorders was assessed using the Kiddie-SADS-PL. The level of anxiety was measured with a self-report questionnaire (RC-MAS). We compared the anxiety rates and the QoL levels between the two groups of adolescents with ASD, one with anxiety disorders, the other without anxiety disorder. Comparisons were also made with QoL data from the general population. RESULTS: Quality of life in the two different groups of adolescents with ASD without mental retardation (with and without anxiety disorders) was significantly lower than in adolescents in the general population. Those rates were significantly lower in the group with ASD and anxiety disorders than in the group with ASD without anxiety disorders for the domain of « physical well-being » only. There was no significant difference between the groups regarding the four other domains of the Kidscreen-27. Moreover, there was no difference between adolescents with ASD and adolescents without ASD regarding the perceived level of anxiety. CONCLUSION: This study shows that anxiety disorders could be a risk factor for impairment of the « physical well-being » dimension of QoL in adolescents with ASD without intellectual disability. Results highlight the interest of a self-evaluation of anxiety level in a population of adolescents with ASD. Findings about self-report of QoL might be temper probably due to the insight difficulties that meet patients with ASD reported in literature review. Further research need to be done with larger samples of patients using self-evaluation coupled with hetero-evaluation such as parents’ reports and clinicians’ reports.
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3. Chen CH, Chen HI, Liao HM, Chen YJ, Fang JS, Lee KF, Gau SS. {{Clinical and molecular characterization of three genomic rearrangements at chromosome 22q13.3 associated with autism spectrum disorder}}. {Psychiatr Genet};2016 (Nov 11)
OBJECTIVES: Chromosome 22q13 is a hot region of genomic rearrangements that may result in deletion, duplication, and translocation, and that may lead to neurodevelopmental disorders in affected patients. MATERIALS AND METHODS: We carried out an array-based comparative genomic hybridization analysis to detect copy number variations (CNVs) of genomic DNA in patients with autism spectrum disorders (ASD) who were consecutively recruited into our molecular genetic study of ASD. Karyotyping, fluorescent in-situ hybridization analysis, and real time-quantitative PCR were used for validation tests. RESULTS: We completed a genome-wide CNV analysis of 335 patients with ASD from Taiwan. Three unrelated male patients were found to carry three different CNVs at 22q13.3, respectively, including a de novo terminal deletion of approximately 106 kb at 22q13.33, a de novo interstitial duplication of approximately 1.8 Mb at 22q13.32-q13.33, and a microdeletion of approximately 147 kb at 22q13.33. These three CNVs all involved the dosage change of the SHANK3 gene. The last patient also carried a genomic duplication of approximately 3.86 Mb at 19q13.42-q13.4 in addition to a microdeletion of approximately 147 kb at 22q13.33. His younger sister also carried these two CNVs, but she had developmental delay and other neurological deficits without ASD. These two CNVs were transmitted from their unaffected father, who carried a balanced translocation between chromosome 22q and 19q. CONCLUSION: Our data support that recurrent genomic rearrangements at 22q13.3 are part of the genetic landscape of ASD in our patients and changes in SHANK3 dosage are associated with neurodevelopmental disorders. However, the clinical symptoms of patients with 22q13.3 rearrangements can vary depending on other genetic and nongenetic factors, not limited to genes involved in CNVs in this region.
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4. Hellriegel J, Barber C, Wikramanayake M, Fineberg NA, Mandy W. {{Is « not just right experience » (NJRE) in obsessive-compulsive disorder part of an autistic phenotype?}}. {CNS Spectr};2016 (Nov 11):1-10.
OBJECTIVE: Harm avoidance (HA) and « not just right experience » (NJRE) have been proposed to be 2 core motivational processes underlying obsessive-compulsive disorder (OCD). The objective of this study was to explore whether NJRE demarcates a neurodevelopmental OCD subgroup distinct from HA related to autistic traits and/or to a broader phenotype of cognitive rigidity and sensory processing difficulties associated with an earlier age of OCD onset. METHODS: A correlational design investigated whether NJRE and HA are distinct entities in OCD and explored their relationship to autism spectrum disorder (ASD) traits measured by the Autism Quotient (AQ), sensory processing, set-shifting, and age of OCD onset in an OCD sample (N=25). RESULTS: NJRE was only moderately (r=.34) correlated to HA and not significant in this study. Consistent with predictions, NJRE was associated with sensory processing difficulties and an earlier age of OCD onset. No significant relationships were found between NJRE and ASD traits as measured by the AQ or set-shifting difficulties. CONCLUSIONS: These preliminary findings suggest a lack of evidence demonstrating NJRE as a manifestation of core autistic traits as measured by the AQ. However, NJRE was associated with sensory abnormalities and an earlier age of OCD onset. The role of NJRE as a developmental, and possibly neurodevelopmental, risk factor for OCD possibly warrants further investigation.
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5. Lane JD, Shepley C, Lieberman-Betz R. {{Erratum to: Promoting Expressive Language in Young Children with or At-Risk for Autism Spectrum Disorder in a Preschool Classroom}}. {J Autism Dev Disord};2016 (Sep 21)
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6. Liratni M, Blanchet C, Pry R. {{[A longitudinal (3 years) study of the development of four children with autism without mental retardation after 90 sessions of social skills training]}}. {Encephale};2016 (Nov 11)
INTRODUCTION: Few studies on social skills training essentially based on ABA techniques are dedicated to children with autism aged 5 to 10 years whereas autistic disorders can be diagnosed in very early childhood. Generally, the main criticisms about these social skills training are: shortness of programs (around 20 sessions), no manual with precise descriptions of sessions and used techniques, and a lack of generalization of the learned skills in everyday life. OBJECTIVES: To describe the evolution (before/after) of symptoms and sociocommunicative skills of 7 children with autism and no mental retardation (mean age=7.08) who participated in 90 sessions (during 3 years) in a learning group of communication and socialization (or LGCS). METHOD: To develop these sessions, we referred to intellectual and verbal levels obtained by the children on The Wechsler Intelligence Scales. We proposed activities such as open discussion, telling about events or vacations, learning of and communicative social rules, social games, outdoor exercises at home or in parks/shops/supermarkets/restaurants with known/unknown children/adults/sellers. To target the social and communicative skills, we also referred to their intellectual level and to Assessment of basic language and learning skills (ABBLS). To practice these sessions, we referred to: (1) TEACCH cognitive ergonomics principles (Treatment and education of autistic and related communication handicapped children developed by Schopler); and especially (2) ABA techniques (Applied behavior analysis) which are rarely mentioned as such. In particular, we used techniques such as: (a) concrete reinforcements which were frequently evaluated; (b) precise levels of verbal incentives and (c) error corrections. To measure the changes, we assessed children with psychometric tests before and after 90 sessions (ADOS and VABS). RESULTS: The scores show significant improvements in autistic symptoms related to communication (ADOS, P=0.03) and significant improvements in both socialization and communication domains (VABS, P=0.00). From a symptomatic point of view (ADOS), we clinically observe better conversation skills and more social initiatives. About socialization and communication behaviors, parents reported (VABS): better listening, better verbal expression, more social relationships and a start of friendship for most of the children. CONCLUSION: This three-year longitudinal follow-up is the first known study about the evolution of children with autistic disorders after a great number of sessions of social skills training. It shows that it is possible to adapt social skills training to young children. In addition, our program and our results (VABS) show clear examples of generalization which is targeted as a weakness in the specialized studies. However, the absence of a control group and of a base line strongly limit our results in terms of effectiveness.
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7. Romanczuk J. {{Everyone’s Autistic: A Memoir on the Spectrum}}. {Issues Ment Health Nurs};2016 (Oct);37(10):784.
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8. Scheer JK, Osorio JA, Smith JS, Schwab F, Lafage V, Hart RA, Bess S, Line B, Diebo BG, Protopsaltis TS, Jain A, Ailon T, Burton DC, Shaffrey CI, Klineberg E, Ames CP. {{Development of Validated Computer-based Preoperative Predictive Model for Proximal Junction Failure (PJF) or Clinically Significant PJK With 86% Accuracy Based on 510 ASD Patients With 2-year Follow-up}}. {Spine (Phila Pa 1976)};2016 (Nov 15);41(22):E1328-E1335.
STUDY DESIGN: A retrospective review of large, multicenter adult spinal deformity (ASD) database. OBJECTIVE: The aim of this study was to build a model based on baseline demographic, radiographic, and surgical factors that can predict clinically significant proximal junctional kyphosis (PJK) and proximal junctional failure (PJF). SUMMARY OF BACKGROUND DATA: PJF and PJK are significant complications and it remains unclear what are the specific drivers behind the development of either. There exists no predictive model that could potentially aid in the clinical decision making for adult patients undergoing deformity correction. METHODS: Inclusion criteria: age >/=18 years, ASD, at least four levels fused. Variables included in the model were demographics, primary/revision, use of three-column osteotomy, upper-most instrumented vertebra (UIV)/lower-most instrumented vertebra (LIV) levels and UIV implant type (screw, hooks), number of levels fused, and baseline sagittal radiographs [pelvic tilt (PT), pelvic incidence and lumbar lordosis (PI-LL), thoracic kyphosis (TK), and sagittal vertical axis (SVA)]. PJK was defined as an increase from baseline of proximal junctional angle >/=20 degrees with concomitant deterioration of at least one SRS-Schwab sagittal modifier grade from 6 weeks postop. PJF was defined as requiring revision for PJK. An ensemble of decision trees were constructed using the C5.0 algorithm with five different bootstrapped models, and internally validated via a 70 : 30 data split for training and testing. Accuracy and the area under a receiver operator characteristic curve (AUC) were calculated. RESULTS: Five hundred ten patients were included, with 357 for model training and 153 as testing targets (PJF: 37, PJK: 102). The overall model accuracy was 86.3% with an AUC of 0.89 indicating a good model fit. The seven strongest (importance >/=0.95) predictors were age, LIV, pre-operative SVA, UIV implant type, UIV, pre-operative PT, and pre-operative PI-LL. CONCLUSION: A successful model (86% accuracy, 0.89 AUC) was built predicting either PJF or clinically significant PJK. This model can set the groundwork for preop point of care decision making, risk stratification, and need for prophylactic strategies for patients undergoing ASD surgery. LEVEL OF EVIDENCE: 3.
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9. Soke GN, Rosenberg SA, Hamman RF, Fingerlin T, Rosenberg CR, Carpenter L, Lee LC, Giarelli E, Wiggins LD, Durkin MS, Reynolds A, DiGuiseppi C. {{Factors Associated with Self-Injurious Behaviors in Children with Autism Spectrum Disorder: Findings from Two Large National Samples}}. {J Autism Dev Disord};2016 (Nov 9)
In this study, we explored potential associations among self-injurious behaviors (SIB) and a diverse group of protective and risk factors in children with autism spectrum disorder from two databases: Autism and Developmental Disabilities Monitoring (ADDM) Network and the Autism Speaks-Autism Treatment Network (AS-ATN). The presence of SIB was determined from children’s records in ADDM and a parent questionnaire in AS-ATN. We used multiple imputation to account for missing data and a non-linear mixed model with site as a random effect to test for associations. Despite differences between the two databases, similar associations were found; SIB were associated with developmental, behavioral, and somatic factors. Implications of these findings are discussed in relation to possible etiology, future longitudinal studies, and clinical practice.
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10. Urbanowicz A, Downs J, Girdler S, Ciccone N, Leonard H. {{An Exploration of the Use of Eye Gaze and Gestures in Females With Rett Syndrome}}. {J Speech Lang Hear Res};2016 (Nov 8):1-11.
Purpose: This study investigated the communicative use of eye gaze and gestures in females with Rett syndrome. Method: Data on 151 females with Rett syndrome participating in the Australian Rett Syndrome Database was used in this study. Items from the Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist (Wetherby & Prizant, 2002) were used to measure communication. Relationships between the use of eye gaze and gestures for communication were investigated using logistic regression. The influences of MECP2 mutation type, age, and level of motor abilities on the use of eye gaze and gestures were investigated using multivariate linear regression. Results: Both eye gaze and the use of gestures predicted the ability to make requests. Women aged 19 years or older had the lowest scores for eye gaze. Females with better gross motor abilities had higher scores for the use of eye gaze and gestures. The use of eye gaze did not vary across mutation groups, but those with a C-terminal deletion had the highest scores for use of gestures. Conclusions: Eye gaze is used more frequently than gestures for communication, and this is related to age, MECP2 mutation type, and gross motor abilities.
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11. Zhou P, Crain S, Gao L, Jia M. {{The Use of Linguistic Cues in Sentence Comprehension by Mandarin-Speaking Children with High-Functioning Autism}}. {J Autism Dev Disord};2016 (Nov 9)
Two studies were conducted to investigate how high-functioning children with autism use different linguistic cues in sentence comprehension. Two types of linguistic cues were investigated: word order and morphosyntactic cues. The results show that children with autism can use both types of cues in sentence comprehension. However, compared to age-matched typically developing peers, children with autism relied significantly more on word order cues and exhibited significantly more difficulties in interpreting sentences in which there was a conflict between the morphosyntactic cue and the word order cue. We attribute the difficulties exhibited by children with autism to their deficits in executive function. We then discuss the implications of the findings for understanding the nature of the sentence processing mechanism in autism.
