1. Barneveld PS, Swaab H, van Engeland H, de Sonneville L. {{Cross-Sectional Evidence for a Decrease in Cognitive Function With Age in Children With Autism Spectrum Disorders?}}. {Autism Res}. 2014.
Autism spectrum disorders (ASD) are associated with early disturbances in brain maturation processes and these interferences presumably have their consequences for the progressive emergence of cognitive deficits later in life, as expressed in intelligence profiles. In this study, we addressed the impact of age on cognitive functioning of 6- to 15-year-old children and adolescents with ASD. Intelligence profiles were measured by the Wechsler Intelligence Scale for Children and compared among four consecutive age cohorts (children aged 6.17-8.03 years, 8.04-9.61 years, and 9.68-11.50 years and adolescents aged 11.54-15.85 years) of 237 high-functioning boys with ASD. The results clearly demonstrated that the global intelligence level was lower in children aged 8 years and older, when compared with 6- and 7-year-old children with ASD. This is mostly due to the Freedom From Distractibility factor, suggesting that older children were less able to sustain their attention, they were more distractible, or had more graph motor difficulties. Moreover, an effect of age was also found with respect to the relatively poor performance on the subtest Comprehension when compared with other verbal comprehension subtests, indicating that specifically the impairments in verbal comprehension and social reasoning abilities were more profound in older children when compared with 6- and 7-year-old children with ASD. Findings of this cross-sectional study showed that it is relevant to take age into account when evaluating the impact of cognitive impairments on intelligence in children with ASD, because the impact of these developmental disorders might be different at different ages. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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2. Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Hon-Yin BC, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ, Raymond FL, Rideout AL, Roberts W, Rupps R, Schanze I, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT. {{Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder}}. {Clin Genet}. 2014.
Studies of genomic copy number variants (CNVs) have identified genes associated with autism spectrum disorder (ASD) and intellectual disability (ID) such as NRXN1, SHANK2, SHANK3 and PTCHD1. Deletions have been reported in PTCHD1 however there has been little information available regarding the clinical presentation of these individuals. Herein we present 23 individuals with PTCHD1 deletions or truncating mutations with detailed phenotypic descriptions. The results suggest that individuals with disruption of the PTCHD1 coding region may have subtle dysmorphic features including a long face, prominent forehead, puffy eyelids and a thin upper lip. They do not have a consistent pattern of associated congenital anomalies or growth abnormalities. They have mild to moderate global developmental delay, variable degrees of ID, and many have prominent behavioural issues. Over 40 percent of subjects have ASD or ASD-like behaviours. The only consistent neurological findings in our cohort are orofacial hypotonia and mild motor incoordination. Our findings suggest that hemizygous PTCHD1 loss of function causes an X-linked neurodevelopmental disorder with a strong propensity to autistic behaviours. Detailed neuropsychological studies are needed to better define the cognitive and behavioural phenotype.
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3. Hirschler-Guttenberg Y, Golan O, Ostfeld-Etzion S, Feldman R. {{Mothering, fathering, and the regulation of negative and positive emotions in high-functioning preschoolers with Autism Spectrum Disorder}}. {J Child Psychol Psychiatry}. 2014.
BACKGROUND: Children with ASD exhibit difficulties in regulating emotions and authors have called to study the specific processes underpinning emotion regulation (ER) in ASD. Yet, little observational research examined the strategies preschoolers with ASD use to regulate negative and positive emotions in the presence of their mothers and fathers. METHODS: Forty preschoolers with ASD and 40 matched typically developing children and their mothers and fathers participated. Families were visited twice for identical battery of paradigms with mother or father. Parent-child interactions were coded for parent and child behaviors and children engaged in ER paradigms eliciting negative (fear) and positive (joy) emotions with each parent. ER paradigms were microcoded for negative and positive emotionality, ER strategies, and parent regulation facilitation. RESULTS: During free play, mothers’ and fathers’ sensitivity and warm discipline were comparable across groups; however, children with ASD displayed lower positive engagement and higher withdrawal. During ER paradigms, children with ASD expressed less positive emotionality overall and more negative emotionality during fear with father. Children with ASD used more simple self-regulatory strategies, particularly during fear, but expressed comparable levels of assistance seeking behavior toward mother and father in negative and positive contexts. Parents of children with ASD used less complex regulation facilitation strategies, including cognitive reappraisal and emotional reframing, and employed simple tactics, such as physical comforting to manage fear and social gaze to maintain joy. CONCLUSION: Findings describe general and parent- and emotion-specific processes of child ER and parent regulation facilitation in preschoolers with ASD. Results underscore the ability of such children to seek parental assistance during moments of high arousal and the parents’ sensitive adaptation to their children’s needs. Reduced positive emotionality, rather than increased negative reactivity and self-regulatory efforts, emerges as the consistent element associated with ER processes in this group.
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4. Hustyi KM, Hall SS, Jo B, Lightbody AA, Reiss AL. {{Longitudinal trajectories of aberrant behavior in fragile X syndrome}}. {Res Dev Disabil}. 2014; 35(11): 2691-701.
The Aberrant Behavior Checklist-Community (ABC-C; Aman et al., 1995) has been increasingly adopted as a primary tool for measuring behavioral change in clinical trials for individuals with fragile X syndrome (FXS). To our knowledge, however, no study has documented the longitudinal trajectory of aberrant behaviors in individuals with FXS using the ABC-C. As part of a larger longitudinal study, we examined scores obtained on the ABC-C subscales for 124 children and adolescents (64 males, 60 females) with FXS who had two or more assessments (average interval between assessments was approximately 4 years). Concomitant changes in age-equivalent scores on the Vineland Adaptive Behavior Scales (VABS) were also examined. As expected for an X-linked genetic disorder, males with FXS obtained significantly higher scores on all subscales of the ABC-C and significantly lower age-equivalent scores on the VABS than females with FXS. In both males and females with FXS, scores on the Irritability/Agitation and Hyperactivity/Noncompliance subscales of the ABC-C decreased significantly with age, with little to no change occurring over time on the Lethargy/Social Withdrawal, Stereotypic Behavior, and Inappropriate Speech subscales. The decrease in scores on the Hyperactivity/Noncompliance domain was significantly greater for males than for females. In both males and females, age-equivalent scores on the VABS increased significantly over this developmental period. These results establish a basis upon which to evaluate long-term outcomes from intervention-based research. However, longitudinal direct observational studies are needed to establish whether the severity of problem behavior actually decreases over time in this population.
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5. Key AP, Ibanez LV, Henderson HA, Warren Z, Messinger DS, Stone WL. {{Erratum to: Positive Affect Processing and Joint Attention in Infants at High Risk for Autism: An Exploratory Study}}. {J Autism Dev Disord}. 2014.
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6. Razavi M, Fathi M, Savabi O, Vashaee D, Tayebi L. {{Improvement of Biodegradability, Bioactivity, Mechanical Integrity and Cytocompatibility Behavior of Biodegradable Mg Based Orthopedic Implants Using Nanostructured Bredigite (CaMgSi O ) Bioceramic Coated via ASD/EPD Technique}}. {Ann Biomed Eng}. 2014.
This research explored the influence of surface modification of AZ91 Mg alloy on the biodegradation, bioactivity, mechanical integrity and cytocompatibility of the alloy. For this purpose, a nanostructured bredigite (Ca7MgSi4O16) ceramic coating was prepared on biodegradable AZ91 Mg alloy through anodic spark deposition and electrophoretic deposition method. The phase composition and surface morphology of the coated alloy were characterized by X-ray diffraction, scanning electron microscope and transmission electron microscope. The properties of samples were investigated by electrochemical measurements, immersion test, compression examination and cell culturing. The results showed that the degradation resistance, bioactivity, mechanical integrity and cytocompatibility of biodegradable Mg alloy were improved by the anodic spark deposition and electrophorretic deposition of the nanostructured bredigite coating. Therefore, the nanostructured bredigite ceramic coating is identified as a good coating for AZ91 Mg alloy for the purpose of making biodegradable metallic orthopedic implants.
