1. Forsingdal A, Fejgin K, Nielsen V, Werge T, Nielsen J. {{15q13.3 homozygous knockout mouse model display epilepsy-, autism- and schizophrenia-related phenotypes}}. {Transl Psychiatry};2016;6(7):e860.
The 15q13.3 microdeletion syndrome is caused by a 1.5-MB hemizygous microdeletion located on 15q13.3 affecting seven genes: FAN1; MTMR10; TRPM1; miR-211; KLF13; OTUD7A; and CHRNA7. The 15q13.3 microdeletion increases the risk of intellectual disability, epilepsy, autism spectrum disorder and schizophrenia, though the clinical profile varies considerably. Two mouse models of this syndrome, with hemizygous deletion of the orthologous region in the murine genome, have recently been shown to recapitulate a number of the behavioral and physiological deficits that characterize the human condition. Still, little is known of the underlying biological mechanisms. Eleven human cases with homozygous deletion of the 15q13.3 region have been reported, all with severe functional and physiological impairments. We therefore hypothesized that a 15q13.3 homozygous knockout would confer more pronounced behavioral and physiological deficits in mice than the 15q13.3 hemizygous deletion. Here we report the characterization of a 15q13.3 knockout mouse. We observed marked deficits including altered seizure susceptibility, autistic behavior-related phenotypes, and auditory sensory processing. Several of these deficits, albeit less pronounced, were also found in the 15q13.3 hemizygous littermates indicating a gene-dosage dependency. Our findings strongly indicate that studies of the hemi- and homozygous 15q13.3 mouse strains will facilitate understanding of the biological mechanisms of severe mental disorders.
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2. Freilinger M, Marschik PB. {{50 years of Rett syndrome, 1966-2016 : From parents to clinicians to scientists, and for parents, clinicians, and scientist}}. {Wien Med Wochenschr};2016 (Jul 26)
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3. Kobayashi T, Matsuyama T, Takeuchi M, Ito S. {{Autism spectrum disorder and prenatal exposure to selective serotonin reuptake inhibitors: A systematic review and meta-analysis}}. {Reprod Toxicol};2016 (Jul 26)
To obtain the risk estimates of autism spectrum disorder (ASD) in the offspring exposed to serotonin reuptake inhibitors (SSRI) in utero, we performed systematic review and meta-analysis of relevant studies. Five case-control and three cohort studies were eligible for the analysis. The SSRI group had significantly higher risk of ASD than the SSRI non-exposed group (pooled OR 1.45, 95% CI 1.15 to 1.82). In the subgroup analyses, however, the risk of ASD was similar between the SSRI group and other antidepressants group (pooled OR 1.14, 95% CI 0.67-1.96). Furthermore, when the analysis was confined to those born to the women with psychiatric disorders, the SSRI group did not show an increased ASD risk (pooled OR 0.96, 95% CI 0.57-1.63) compared to non-exposed groups. In conclusion, SSRI use in pregnancy is associated with an increased risk of ASD in the offspring, but maternal psychiatric condition is a major confounding factor.
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4. Marini A, Ferretti F, Chiera A, Magni R, Adornetti I, Nicchiarelli S, Vicari S, Valeri G. {{Brief Report: Self-Based and Mechanical-Based Future Thinking in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Jul 26)
This brief report is a partial replication of the study by Jackson and Atance (J Dev Disabil 14:40-45, 2008) assessing nonverbal Self-based and Mechanical-based future thinking (FT) in children with Autism Spectrum Disorder (ASD). In a first step, these tasks were administered to 30 children with ASD. The two Self-based tasks were then modified as a verbal component could not be completely ruled out. Consequently, 77 children with ASD and 77 children with typical development received the modified Self-based FT tasks and the Mechanical-based FT tasks. We partially replicated the previous findings. Participants with ASD had impaired FT in both kinds of tasks and both groups performed better on tasks assessing Mechanical-based FT than Self-based FT. These results suggest that impairments of FT in ASD are not limited to Self-Projection.
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5. Saldarriaga W, Ruiz FA, Tassone F, Hagerman R. {{Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report}}. {J Appl Res Intellect Disabil};2016 (Jul 26)
BACKGROUND: Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS. METHODS: Cytogenetic testing detected the presence of a complete trisomy 21. A combination of PCR and Southern blot analysis was utilized to document the presence of the FMR1 full mutation. RESULTS: The patient has physical characteristics and behavioural disturbances typical of both FXS and DS, which were confirmed by molecular testing. Her treatment plan included a trial of sertraline because of the severity of her shyness and lack of language. She had an excellent response to sertraline with improvement in shyness and social interactions, particularly with family members. CONCLUSIONS: In this study, we report the case of a woman with both FXS and DS, which is the fifth case of FXS and DS in the world’s literature. The patient is from Ricaurte, a small town in Colombia, South America, where there is the world’s highest prevalence for FXS.
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6. Schertz HH, Odom SL, Baggett KM, Sideris JH. {{Parent-Reported Repetitive Behavior in Toddlers on the Autism Spectrum}}. {J Autism Dev Disord};2016 (Jul 26)
Toddlers with autism spectrum disorder (ASD) were assessed on the Repetitive Behavior Scale-Revised (RBS-R), which we found to have acceptable internal consistency. Stereotypical subscale scores showed a negligible association with cognitive level, but correlated more strongly with adaptive and social indicators. Relative to earlier reported RBS-R scores for older age groups, toddlers’ scores trended toward higher stereotyped behavior and lower ritualistic/sameness behavior. Our findings on associations with developmental indicators align with those of researchers who used more resource-intensive repetitive behavior measures. The convergence of these findings with those derived from other measurement methods suggests that the RBS-R, a cost effective parent-report measure, is a viable means of assessing repetitive behavior in toddlers with autism.
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7. Srisinghasongkram P, Pruksananonda C, Chonchaiya W. {{Two-Step Screening of the Modified Checklist for Autism in Toddlers in Thai Children with Language Delay and Typically Developing Children}}. {J Autism Dev Disord};2016 (Jul 26)
This study aimed to validate the use of two-step Modified Checklist for Autism in Toddlers (M-CHAT) screening adapted for a Thai population. Our participants included both high-risk children with language delay (N = 109) and low-risk children with typical development (N = 732). Compared with the critical scoring criteria, the total scoring method (failing >/=3 items) yielded the highest sensitivity of 90.7 %; specificity was 99.7 %, positive predictive value 96.1 %, and negative predictive value 99.4 %. The two-step M-CHAT screening is a promising instrument that can be utilized to detect ASD in Thai children in both primary and clinical settings. Moreover, socio-cultural context should be considered when adopting the use and interpretation of the M-CHAT for each country.
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8. Teti M, Cheak-Zamora N, Lolli B, Maurer-Batjer A. {{Reframing Autism: Young Adults With Autism Share Their Strengths Through Photo-Stories}}. {J Pediatr Nurs};2016 (Jul 26)
A dearth of research describes the lives of young adults with autism spectrum disorder (ASD) from the perspectives of young adults themselves. We explored young adults’ strengths using Photovoice, a method in which participants use images and discussions to express themselves. Images were purposefully chosen to help young people participate in the research process. DESIGN AND METHODS: Eleven young adults captured their experiences growing up with ASD via images, and participated in three group photo discussions, an individual photo interview, and a photo exhibit. Qualitative data for analysis included session transcripts and photographs. We used strategies of theme analysis to understand participants’ experiences. RESULTS: The mean age of the sample was 20years, and 7 participants were male. Three sub-themes describe youth’s strengths: 1) special interests that cultivated positive emotions and coping strategies; 2) skills and activities that evoked pride; and 3) reframing ASD as special versus a disadvantage. CONCLUSIONS: The Photovoice method is well-suited to help young adults identify and express their strengths. Self-generated images and stories may offer a creative and effective form of communication for young adults with ASD. PRACTICE IMPLICATIONS: Health care practitioners can capitalize on how Photovoice helps young adults express themselves by using images to understand their health priorities and involve young adults in their care plans. With images of strength, for example, nurses can build young adults’ confidence and help these individuals to identify areas of their mental and physical lives in which they can thrive and experience improved quality of life.
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9. Uljarevic M, Evans DW. {{Relationship between repetitive behaviour and fear across normative development, autism spectrum disorder, and down syndrome}}. {Autism Res};2016 (Jul 26)
The present study had two aims: first to compare levels of restricted and repetitive behaviours (RRB) across two groups of typically developing (TD) children, and two disorders: Autism Spectrum Disorder (ASD) and Down syndrome (DS), and second to explore the relationship between fear and repetitive behaviours in these four groups. Parents of 41 offspring with ASD (Mage = 123.39 months, SDage = 27.67), 38 offspring with DS (Mage = 125.37 months, SDage = 45.71), 45 typically developing children matched to the mental age (MA) of the DS group (TD MA; Mage = 51.13 months, SDage = 22.1), and 42 chronological age (TD CA; Mage = 117.93 months, SDage = 22.91) matched TD children, completed measures of RRB and fear. ANOVAs revealed differences across the four groups on the RRB subscale scores: « Just Right » F(3,162) = 16.62, P < 0.001; Rigid Routines F(3,162) = 52.76, P < 0.001; Sensory behaviours F(3,162) = 23.26, P < 0.001. Post-hoc comparisons revealed that children with ASD had the highest RRB levels followed by DS, TD MA, and TD CA children. In children with ASD, higher levels of fear were related to higher RRB levels. Similar, albeit less strong, patterns of associations was found among DS and TD MA children but not in older TD CA children. This study provided evidence of a fear-RRB association in children with ASD, DS, and two groups of TD children. Autism Res 2016. (c) 2016 International Society for Autism Research. Lien vers le texte intégral (Open Access ou abonnement)
10. Woynaroski T, Oller DK, Keceli-Kaysili B, Xu D, Richards JA, Gilkerson J, Gray S, Yoder P. {{The stability and validity of automated vocal analysis in preverbal preschoolers with autism spectrum disorder}}. {Autism Res};2016 (Jul 26)
Theory and research suggest that vocal development predicts « useful speech » in preschoolers with autism spectrum disorder (ASD), but conventional methods for measurement of vocal development are costly and time consuming. This longitudinal correlational study examines the reliability and validity of several automated indices of vocalization development relative to an index derived from human coded, conventional communication samples in a sample of preverbal preschoolers with ASD. Automated indices of vocal development were derived using software that is presently « in development » and/or only available for research purposes and using commercially available Language ENvironment Analysis (LENA) software. Indices of vocal development that could be derived using the software available for research purposes: (a) were highly stable with a single day-long audio recording, (b) predicted future spoken vocabulary to a degree that was nonsignificantly different from the index derived from conventional communication samples, and (c) continued to predict future spoken vocabulary even after controlling for concurrent vocabulary in our sample. The score derived from standard LENA software was similarly stable, but was not significantly correlated with future spoken vocabulary. Findings suggest that automated vocal analysis is a valid and reliable alternative to time intensive and expensive conventional communication samples for measurement of vocal development of preverbal preschoolers with ASD in research and clinical practice. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
