1. Chang YC, Cole TB, Costa LG. {{Behavioral Phenotyping for Autism Spectrum Disorders in Mice}}. {Curr Protoc Toxicol};2017 (May 02);72:11 22 11-11 22 21.
Autism spectrum disorder (ASD) represents a heterogeneous group of disorders characterized by alterations in three behavioral symptom domains: Social interactions, verbal and nonverbal communication, and repetitive behaviors. Increasing prevalence of ASD in recent years suggests that exposure to environmental toxicants may be critical in modulating etiology of this disease. As clinical diagnosis of autism still relies on behavioral evaluation, it is important to be able to assess similar behavioral traits in animal models, to provide biological plausibility of associations between environmental exposures and ASD. Rodents naturally exhibit a large number of behaviors that can be linked to similar behaviors in human. In this unit, behavioral tests are described that are relevant to the domains affected in ASD. For the repetitive domain, the T-maze spontaneous alternation test and marble burying test are described. For the communication domain, neonatal ultrasonic vocalization and olfactory habituation test toward social and non-social odor are described. Finally, for the sociability domain, the three-chambered social preference test and the reciprocal interaction test are presented. (c) 2017 by John Wiley & Sons, Inc.
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2. Eggleston JD, Harry JR, Hickman RA, Dufek JS. {{Analysis of gait symmetry during over-ground walking in children with autism spectrum disorder}}. {Gait Posture};2017 (Apr 21);55:162-166.
Gait symmetry is utilized as an indicator of neurologic function. Healthy gait often exhibits minimal asymmetries, while pathological gait exhibits exaggerated asymmetries. The purpose of this study was to examine symmetry of mechanical gait parameters during over-ground walking in children with Autism Spectrum Disorder (ASD). Kinematic and kinetic data were obtained from 10 children (aged 5-12 years) with ASD. The Model Statistic procedure (alpha=0.05) was used to compare gait related parameters between limbs. Analysis revealed children with ASD exhibit significant lower extremity joint position and ground reaction force asymmetries throughout the gait cycle. The observed asymmetries were unique for each subject. These data do not support previous research relative to gait symmetry in children with ASD. Many individuals with ASD do not receive physical therapy interventions, however, precision medicine based interventions emphasizing lower extremity asymmetries may improve gait function and improve performance during activities of daily living.
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3. Ferrarelli LK. {{New connections: Treating fragile X syndrome}}. {Sci Signal};2017 (May 02);10(477)
An in vivo drug screen can identify inhibitors of the signaling pathway that is activated in fragile X syndrome.
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4. Haebig E, Saffran JR, Ellis Weismer S. {{Statistical word learning in children with autism spectrum disorder and specific language impairment}}. {J Child Psychol Psychiatry};2017 (May 02)
BACKGROUND: Word learning is an important component of language development that influences child outcomes across multiple domains. Despite the importance of word knowledge, word-learning mechanisms are poorly understood in children with specific language impairment (SLI) and children with autism spectrum disorder (ASD). This study examined underlying mechanisms of word learning, specifically, statistical learning and fast-mapping, in school-aged children with typical and atypical development. METHODS: Statistical learning was assessed through a word segmentation task and fast-mapping was examined in an object-label association task. We also examined children’s ability to map meaning onto newly segmented words in a third task that combined exposure to an artificial language and a fast-mapping task. RESULTS: Children with SLI had poorer performance on the word segmentation and fast-mapping tasks relative to the typically developing and ASD groups, who did not differ from one another. However, when children with SLI were exposed to an artificial language with phonemes used in the subsequent fast-mapping task, they successfully learned more words than in the isolated fast-mapping task. There was some evidence that word segmentation abilities are associated with word learning in school-aged children with typical development and ASD, but not SLI. Follow-up analyses also examined performance in children with ASD who did and did not have a language impairment. Children with ASD with language impairment evidenced intact statistical learning abilities, but subtle weaknesses in fast-mapping abilities. CONCLUSIONS: As the Procedural Deficit Hypothesis (PDH) predicts, children with SLI have impairments in statistical learning. However, children with SLI also have impairments in fast-mapping. Nonetheless, they are able to take advantage of additional phonological exposure to boost subsequent word-learning performance. In contrast to the PDH, children with ASD appear to have intact statistical learning, regardless of language status; however, fast-mapping abilities differ according to broader language skills.
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5. Jones EJH, Dawson G, Webb SJ. {{Sensory hypersensitivity predicts enhanced attention capture by faces in the early development of ASD}}. {Dev Cogn Neurosci};2017 (Apr 12)
Sensory sensitivity is prevalent among young children with ASD, but its relation to social communication impairment is unclear. Recently, increased sensory hypersensitivity has been linked to greater activity of the neural salience network (Green et al., 2016). Increased neural sensitivity to stimuli, especially social stimuli, could provide greater opportunity for social learning and improved outcomes. Consistent with this framework, in Experiment 1 we found that parent report of greater sensory hypersensitivity at 2 years in toddlers with ASD (N=27) was predictive of increased neural responsiveness to social stimuli (larger amplitude event-related potential/ERP responses to faces at P1, P400 and Nc) at 4 years, and this in turn was related to parent report of increased social approach at 4 years. In Experiment 2, parent report of increased perceptual sensitivity at 6 months in infants at low and high familial risk for ASD (N=35) predicted larger ERP P1 amplitude to faces at 18 months. Increased sensory hypersensitivity in early development thus predicted greater attention capture by faces in later development, and this related to more optimal social behavioral development. Sensory hypersensitivity may index a child’s ability to benefit from supportive environments during development. Early sensory symptoms may not always be developmentally problematic for individuals with ASD.
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6. Kashima R, Redmond PL, Ghatpande P, Roy S, Kornberg TB, Hanke T, Knapp S, Lagna G, Hata A. {{Hyperactive locomotion in a Drosophila model is a functional readout for the synaptic abnormalities underlying fragile X syndrome}}. {Sci Signal};2017 (May 02);10(477)
Fragile X syndrome (FXS) is the most common cause of heritable intellectual disability and autism and affects ~1 in 4000 males and 1 in 8000 females. The discovery of effective treatments for FXS has been hampered by the lack of effective animal models and phenotypic readouts for drug screening. FXS ensues from the epigenetic silencing or loss-of-function mutation of the fragile X mental retardation 1 (FMR1) gene, which encodes an RNA binding protein that associates with and represses the translation of target mRNAs. We previously found that the activation of LIM kinase 1 (LIMK1) downstream of augmented synthesis of bone morphogenetic protein (BMP) type 2 receptor (BMPR2) promotes aberrant synaptic development in mouse and Drosophila models of FXS and that these molecular and cellular markers were correlated in patients with FXS. We report that larval locomotion is augmented in a Drosophila FXS model. Genetic or pharmacological intervention on the BMPR2-LIMK pathway ameliorated the synaptic abnormality and locomotion phenotypes of FXS larvae, as well as hyperactivity in an FXS mouse model. Our study demonstrates that (i) the BMPR2-LIMK pathway is a promising therapeutic target for FXS and (ii) the locomotion phenotype of FXS larvae is a quantitative functional readout for the neuromorphological phenotype associated with FXS and is amenable to the screening novel FXS therapeutics.
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7. Lan A, Kalimian M, Amram B, Kofman O. {{Prenatal chlorpyrifos leads to autism-like deficits in C57Bl6/J mice}}. {Environ Health};2017 (May 02);16(1):43.
BACKGROUND: Children are at daily risk for exposure to organophosphate insecticides, of which the most common is chlorpyrifos (CPF). Exposure of pregnant women to CPF was linked to decreased birth weight, abnormal reflexes, reduction in IQ, as well as increased maternal reports of signs of pervasive developmental disorder. The aim of current study was to examine the long term effects of prenatal exposure to CPF in C57BL/6 J (B6) mice with specific focus on social and repetitive behavior. METHODS: B6 female mice were treated with vehicle, 2.5 mg/kg CPF or 5 mg/kg of CPF on gestational days 12-15 by oral gavage. On postnatal days (PND’s) 6-12 early development and neuromotor ability were assessed by measuring 3 neonatal reflexes in the offspring. In adulthood, PND 90, social behavior was investigated using the social preference, social novelty and social conditioned place preference tasks. Object recognition and restricted interest, measured by the repetitive novel object contact task (RNOC), were also assessed on PN D 90. In order to rule out the possibility that CPF administration induced alterations in maternal care, the dams’ behavior was evaluated via the maternal retrieval task. RESULTS: CPF treatment resulted in delayed development of neonatal reflexes on PND’s 6-12. On PND 90, mice treated prenatally with the 5.0 mg/kg dose exhibited reduced preference towards an unfamiliar conspecific in the social preference test and reduced social conditioned place preference. In the RNOC task, mice exposed prenatally to 2.5 mg/kg dose of CPF showed enhanced restricted interest. CPF administration did not impair dams’ behavior and did not cause memory or recognition deficit as was observed in the object recognition task. CONCLUSIONS: Our data indicate that gestational exposure to CPF has long-term deleterious effects on social behavior and limits exploration of novel objects.
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8. Major S, Seabra-Santos MJ, Albuquerque CP. {{Validating the Preschool and Kindergarten Behavior Scales-2: Preschoolers with autism spectrum disorders}}. {Res Dev Disabil};2017 (Apr 28);65:86-96.
Social skills deficits and some behavior problems are a well-established issue in preschoolers with autism spectrum disorder (ASD). However, most of the studies available analyze social skills or behavior problems of children with ASD, but not both. The present study intends to compare the social skills and behavior problems of 32 preschoolers with ASD paired with 32 typically developing preschoolers, as evidence of validity of the Portuguese version of the Preschool and Kindergarten Behavior Scales – Second Edition (PKBS-2). Each child was rated independently by parents and teachers. Results showed a statistically significant difference in all PKBS-2 scores between the two groups, with the children with ASD rated with fewer social skills and more behavior problems by both informants. The discriminant analysis highlighted the three Social Skills, the Over-Activity/Lack of Attention and Social Withdrawal subscales as more accurate in differentiating between the two groups. The implications of using a single behavior rating scale that can be filled in by different informants (parents and teachers) to assess positive and negative behaviors are emphasized. Furthermore, the usefulness of the PKBS-2 as a screening assessment tool that could be used in clinical practice and intervention with preschoolers with ASD is discussed.
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9. Medina-Mirapeix F, Lillo-Navarro C, Montilla-Herrador J, Gacto-Sanchez M, Franco-Sierra MA, Escolar-Reina P. {{Predictors of parents’ adherence to home exercise programs for children with developmental disabilities, regarding both exercise frequency and duration: a survey design}}. {Eur J Phys Rehabil Med};2017 (May 02)
BACKGROUND: Many families have problems adhering to home exercise programs (HEP) for children with developmental disabilities. However, parental participation in HEP is known to have a positive effect on child-related outcome variables, as well as on parental functioning. AIM: This study examined whether the different behaviours of health professionals, and the behaviour and social characteristics of parents determine rates of parental adherence to both the frequency per week, and duration per session, of HEP for children with developmental disabilities attending paediatric services in early intervention centres. In this study, developmental disabilities include those caused by developmental delay or specific health conditions such as cerebral palsy, congenital illness, or others. DESIGN: Survey. SETTING: 18 early intervention centres. POPULATION: Parents of children with developmental disabilities receiving HEP. METHODS: A self-reported questionnaire was used to examine: whether frequency and duration of weekly exercise sessions was prescribed by physiotherapists; whether the child had received the HEP according to what was prescribed; and items related to the individual, social support, illnesses and the involvement of the health professional. Multiple logistic regression analyses examined their relative relevance. RESULTS: 219 parents participated. The rate of adherence to the prescribed frequency and duration of the HEP was similar (61.4-57.2%). The probability of adherence to both components increased for parents who had a low perception of the existence of barriers for integrating the exercises into their daily routine (OR=2.62 and 4.83). Furthermore, other cognitive factors of parents had a variable influence. The involvement of the professional had a significant impact regarding the frequency of the HEP. Professional involvement increased the probability of exercises being followed accurately by adopting strategies such as: providing information about the progress and evolution of the exercises (OR=3.75); justifying their usefulness (OR=2.17); giving advice on how to include them into the daily routine (OR=2.54); checking skills during follow-up (OR=2.21) and asking about home adherence (OR=2.20). CONCLUSIONS: Providing information during clinical encounters, advising how to include exercises into the daily routine, and checking skills and adherence during follow-up represent practical targets for clinicians aiming to improve the frequency of HEP for children with developmental disabilities. CLINICAL REHABILITATION IMPACT: This study contributes to the knowledge of physicians and therapists regarding how their interventions (in particular, information, instructions for HEP and follow-up) influence parents regarding their adherence to HEP.
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10. Navot N, Jorgenson AG, Webb SJ. {{Maternal experience raising girls with autism spectrum disorder: a qualitative study}}. {Child Care Health Dev};2017 (May 02)
BACKGROUND: A growing line of research has sought to characterize the different presentations of autism spectrum disorder (ASD) among boys and girls. Much less is known about maternal experience and mother-child relationship in children with ASD based on child gender. The present qualitative study aimed to investigate the mother-daughter relationship from the perspective of mothers who are raising girls with ASD with normal intelligence and functional verbal communication. METHODS: Eleven in-depth interviews were conducted with mothers of girls with ASD, ages 10-19 years. Data were analysed in an interactive process commonly used in naturalistic inquiry. Results provide insight into the unique maternal experience of raising a daughter with ASD. RESULTS: Mothers reported a sense of exclusion from the neurotypical population and male-dominant ASD population and transformation in relationship. Themes identified were skepticism and delayed diagnosis, disbelief from others, lack of information about girls with ASD, higher social demands in adolescence, puberty challenges around hygiene, disappointment about physical appearance, vulnerability in relationships and worries about future functioning. The mother-daughter relationship started with an early expectation of a close and intimate relationship that then underwent a transformation, which challenged maternal competence, reshaped expectations and created a different bond between mother and daughter. CONCLUSIONS: The findings in this qualitative study highlight the impact of gender on the maternal experience of raising a daughter with ASD and contribute to a better understanding of the needs of both mothers and daughters. These results can help providers support the mother-daughter dyad by recognizing gender-specific challenges.
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11. Noroozi R, Ghafouri-Fard S, Omrani MD, Habibi M, Sayad A, Taheri M. {{Association study of the vesicular monoamine transporter 1 (VMAT1) gene with autism in an Iranian population}}. {Gene};2017 (May 02)
Autism Spectrum Disorders (ASD) (MIM 209850) are a group of neurodevelopmental disorders distinguished by destructed social interaction and communication abilities along with peculiar repetitive behavior. Several genetic loci have been linked to this disorder. Vesicular monoamine transporter 1 (VMAT1/SLC18A1) is an attractive candidate gene for psychiatric disorders because of its participation in regulation monoamines. In the present case-control study, we evaluated the link between three non-synonymous single nucleotide polymorphisms (SNPs) (rs2270641 [Pro4Thr], rs2270637 [Thr98Ser] and rs1390938 [Thr136Ile]) and one intronic SNP (rs2279709) across the VMAT1 gene and ASD in a group of Iranian patients. Allele frequency analyses showed significant over-presentation of rs1390938-G allele in cases compared with controls (P<0.001). The analysis under different genetic models showed that the AA genotype of the rs1390938 was protective against ASD under dominant and recessive models. The rs2270641 SNP was associated with ASD risk only in over-dominant model. Other SNPs showed no significant difference in allele or genotype frequencies between two groups. Haplotype analysis revealed that C A T T and C A T G haplotypes (rs2270637, rs1390938, rs2279709 and rs2270641 respectively) have a protective effect against ASD. Consequently, the functional rs1390938 SNP in VMAT1 is associated with ASD in Iranian population. Considering the role of VMAT1 in regulation of monoamines, the dysregulated expression of this protein during early stages of brain development might be implicated in ASD. Lien vers le texte intégral (Open Access ou abonnement)
12. Slingsby B, Yatchmink Y, Goldberg A. {{Typical Skin Injuries in Children With Autism Spectrum Disorder}}. {Clin Pediatr (Phila)};2017 (Apr 01):9922817705187.
Pediatric skin injuries have primarily been described in typically developing children. Our objectives were to describe the prevalence and pattern of skin injuries of children with autism spectrum disorder (ASD), to describe how this compared with previously demonstrated skin injury locations in typically developing children, and to identify differences in skin injury frequency and locations between autistic children with and without self-injurious behaviors (SIBs). Children with ASD were recruited between September of 2011 and September of 2014. Demographic information was obtained from the caregiver. All skin injuries and their locations were documented. Of the 41 children enrolled, half were reported to have SIBs. The most identified skin injury locations were the legs, knees, and back. Children with autism (1) obtain skin injuries frequently and in similar locations as typically developing children and (2) rarely obtain skin injuries to locations that are considered uncommon for accidental injuries despite reports of SIBs.
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13. Wittke K, Mastergeorge AM, Ozonoff S, Rogers SJ, Naigles LR. {{Grammatical Language Impairment in Autism Spectrum Disorder: Exploring Language Phenotypes Beyond Standardized Testing}}. {Front Psychol};2017;8:532.
Linguistic and cognitive abilities manifest huge heterogeneity in children with autism spectrum disorder (ASD). Some children present with commensurate language and cognitive abilities, while others show more variable patterns of development. Using spontaneous language samples, we investigate the presence and extent of grammatical language impairment in a heterogeneous sample of children with ASD. Findings from our sample suggest that children with ASD can be categorized into three meaningful subgroups: those with normal language, those with marked difficulty in grammatical production but relatively intact vocabulary, and those with more globally low language abilities. These findings support the use of sensitive assessment measures to evaluate language in autism, as well as the utility of within-disorder comparisons, in order to comprehensively define the various cognitive and linguistic phenotypes in this heterogeneous disorder.
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14. Ye BS, Leung AOW, Wong MH. {{The association of environmental toxicants and autism spectrum disorders in children}}. {Environ Pollut};2017 (May 02);227:234-242.
Autism spectrum disorders (ASDs) is a set of complex neurodevelopment disorders that is prevalent in children and is increasing at a steady rate in recent years. However, the etiology of autism is still poorly understood. Humans are at higher risk of chemical exposure than in the past as a result of the increasing usage of chemicals in various fields, including food preservation, agriculture, industrial production, etc. A number of environmental agents have been suggested as contributing factors to ASD pathogenesis, which includes heavy metals (Hg and Pb), persistent organic pollutants (DDT, PBDEs and PCBs) and emerging chemicals of concern (phthalates and BPA). These three main categories of toxicants could be the cause of ASD in children. Recent research into the causes of ASD that have been linked to environment factors are reviewed in this paper. There are evidence supporting the etiological link between exposure to environmental toxicants and the development of ASD. Children exposed to these toxicants in the environment exhibit signature traits of ASD and have been reported with high body burdens of these chemicals and/or their metabolites, which may provide an explanation for the observed relation, yet comprehensive evidence in humans is limited, highlighting the need for further research.
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15. Yeh L, Mashari A, Montealegre-Gallegos M, Mujica F, Jeganathan J, Mahmood F. {{Immediate Closure of Iatrogenic ASD After MitraClip Procedure Prompted by Acute Right Ventricular Dysfunction}}. {J Cardiothorac Vasc Anesth};2017 (Feb 07)
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16. Yun SS, Choi J, Park SK, Bong GY, Yoo H. {{Social skills training for children with autism spectrum disorder using a robotic behavioral intervention system}}. {Autism Res};2017 (May 02)
We designed a robot system that assisted in behavioral intervention programs of children with autism spectrum disorder (ASD). The eight-session intervention program was based on the discrete trial teaching protocol and focused on two basic social skills: eye contact and facial emotion recognition. The robotic interactions occurred in four modules: training element query, recognition of human activity, coping-mode selection, and follow-up action. Children with ASD who were between 4 and 7 years old and who had verbal IQ >/= 60 were recruited and randomly assigned to the treatment group (TG, n = 8, 5.75 +/- 0.89 years) or control group (CG, n = 7; 6.32 +/- 1.23 years). The therapeutic robot facilitated the treatment intervention in the TG, and the human assistant facilitated the treatment intervention in the CG. The intervention procedures were identical in both groups. The primary outcome measures included parent-completed questionnaires, the Autism Diagnostic Observation Schedule (ADOS), and frequency of eye contact, which was measured with the partial interval recording method. After completing treatment, the eye contact percentages were significantly increased in both groups. For facial emotion recognition, the percentages of correct answers were increased in similar patterns in both groups compared to baseline (P > 0.05), with no difference between the TG and CG (P > 0.05). The subjects’ ability to play, general behavioral and emotional symptoms were significantly diminished after treatment (p < 0.05). These results showed that the robot-facilitated and human-facilitated behavioral interventions had similar positive effects on eye contact and facial emotion recognition, which suggested that robots are useful mediators of social skills training for children with ASD. Autism Res 2017,. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lien vers le texte intégral (Open Access ou abonnement)
