1. Ali EH, Elgoly AH. {{Combined prenatal and postnatal butyl paraben exposure produces autism-like symptoms in offspring: comparison with valproic acid autistic model}}. {Pharmacology, biochemistry, and behavior}. 2013 Sep 11.
The aim of this work is to evaluate the impact of butyl paraben (BP) in brain of the pups developed for mothers administered BP from early pregnancy till weaning and its effect on studying the behavior, brain neurotransmitters and brain derived neurotrophic factor BDNF via comparing the results with valproic acid (VA) autistic- rat model preparing by a single oral injection dose of VA (800 mg/kg b.wt) at the 12.5 day of gestation. Butyl paraben was orally and subcutaneously administered (200 mg/kg b.wt) to pregnant rats from gestation day 1 to lactation day 21. The offspring male rats were subjected at the last 3 days of lactation to morris water maze and three chamber sociability test then decapitated and brain was excised and dissected to the cortex, hippocampus, cerebellum, midbrain and pons for determination of norepinephrine, dopamine and serotonin (NE, DA and 5-HT) and cortex amino acids and whole brain BDNF. The results showed similar social and learning and memory behavioral deficits in VA rat model and the butyl paraben offspring in comparison with the controls. Also, a some similar alterations were observed in monoamine content, amino acids and BDNF factor in the autistic-like model and butyl paraben offspring in comparison with the controls. Notably, hippocampus and pons NE, midbrain DA, hippocampus and midbrain 5-HT, and frontal cortex GABA and asparagine. These data suggest that prenatal exposure to butyl paraben induced neuro-developmental disorders similar to some of the neurodevelopmental disorders observed in the VA model of autism.
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2. Duku E, Szatmari P, Vaillancourt T, Georgiades S, Thompson A, Liu XQ, Paterson AD, Bennett T. {{Measurement equivalence of the autism symptom phenotype in children and youth}}. {Journal of child psychology and psychiatry, and allied disciplines}. 2013 Aug 24.
BACKGROUND: The Autism Diagnostic Interview-Revised (ADI-R) is a gold standard assessment of Autism Spectrum Disorder (ASD) symptoms and behaviours. A key underlying assumption of studies using the ADI-R is that it measures the same phenotypic constructs across different populations (i.e. males/females, younger/older, verbal/nonverbal). The objectives of this study were to evaluate alternative measurement models for the autism symptom phenotype based on the ADI-R algorithm items and to examine the measurement equivalence of the most parsimonious and best fitting model across subgroups of interest. METHODS: Data came from the Autism Genome Project consortium and consisted of 3,628 children aged 4-18 years (84.2% boys and 75% verbal). Twenty-eight algorithm items applicable to both verbal and nonverbal participants were used in the analysis. Measurement equivalence of the autism phenotype was examined using categorical confirmatory factor analysis. RESULTS: A second-order model resembling the proposed DSM-5 two-factor structure of the phenotype showed good overall fit, but not for all the subgroups. The autism symptom phenotype was best indexed by the first-order, six-factor measurement model proposed by Liu et al. (2011). This model was well fitting and measurement equivalent across subgroups of participants (age, verbal ability and sex). CONCLUSIONS: The autism symptom phenotype is adequately characterized by a six-factor measurement model; this model appears to be measurement equivalent across subgroups of children and youth with ASD that differ in age, sex and verbal ability. The two-factor model provides equally good fit for the sample as a whole, but comparison of these two dimensions between subgroups that might differ in terms of age, sex or verbal ability is challenged by lack of measurement equivalence.
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3. Fu XY, Xie XT, Mei Z, Cheng WH. {{[Clinical features and comorbidities of Asperger syndrome in children]}}. {Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics}. 2013 Sep;15(9):733-6.
OBJECTIVE: To investigate and summarize the clinical features and comorbidities of Asperger syndrome (AS) in children and to provide a theoretical basis for improving the understanding and diagnosis of AS. METHODS: Inquiry of medical history, physical examination, behavioral observation, psychiatric examination, questionnaire survey, and the Wechsler Intelligence Scale were used to summarize and analyse the clinical data of 95 children with AS, including chief complaint, symptoms, perinatal and familial conditions, family genetic history, and common comorbidities. RESULTS: AS was more common in male children, with hyperactivity, inattention, and social withdrawal as frequent chief complaints. The main clinical manifestations included poor communication skills (95%), restricted interest (82%), repetitive and stereotyped patterns of behavior (77%), semantic comprehension deficit (74%), and indiscipline (68%). Verbal IQ was higher than performance IQ in most patients. The comorbidities of AS included attention deficit hyperactivity disorder (ADHD) (39%), emotional disorder (18%), and schizophrenia (2%); emotional disorder was more common in patients aged 13-16 years, while ADHD was more common in patients aged 7-16 years. Among these patients, 61% had fathers with introverted personality, 43% had mothers with introverted personality, and 19% had a family history of mental illness. CONCLUSIONS: AS has specific clinical manifestations. It is essential to know more about the clinical features and comorbidities of AS, which is helpful for early identification and diagnosis of AS.
4. Hodgetts S, Nicholas D, Zwaigenbaum L, McConnell D. {{Parents’ and professionals’ perceptions of family-centered care for children with autism spectrum disorder across service sectors}}. {Social science & medicine (1982)}. 2013 Nov;96:138-46.
Family-centered care (FCC) has been linked with improved parent and child outcomes, yet its implementation can be challenging due to family, professional, organizational and systemic factors and policies. This study aims to increase knowledge and understanding of how families with children with autism spectrum disorder (ASD) experience FCC in Alberta, Canada. 152 parents with a child with ASD completed the Measure of Processes of Care, separately for each utilized service sector, and 146 professionals working with persons with ASD completed the Measure of Processes of Care – Service Providers. Additionally, in-depth interviews were conducted with a sub-sample of 19 parents, purposefully sampled for diversity in child and family characteristics. Data were collected in 2011. Descriptive and inferential statistics were used to analyze quantitative data. Interview transcripts were analyzed using grounded theory constant comparison methods, yielding a data generated theoretical model depicting families’ experiences with FCC over time and across service sectors. There were no statistically significant differences in FCC scores across service sectors, but statistically significant differences in FCC scores between parents’ and professionals’ were found. Qualitative data revealed positive experiences and perceptions of receiving FCC from professionals « on the ground » across sectors, but negative experiences and perceptions of FCC at the systems level (i.e., administration, funders). These broad experiences emerged as a core theme « System of Exclusion », which integrated the key themes: (1) « The Fight », (2) « Roles and Restrictions of Care », and (3) « Therapeutic Rapport ». Professionals and service providers can use findings to ensure that services reflect current conceptualizations of FCC, and decision and policy makers can use findings to recognize systemic barriers to implementing FCC and inform policy change.
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5. King D, Dockrell JE, Stuart M. {{Event narratives in 11-14 year olds with autistic spectrum disorder}}. {International journal of language & communication disorders / Royal College of Speech & Language Therapists}. 2013 Sep;48(5):522-33.
BACKGROUND: Children with autistic spectrum disorder (ASD) are known to have difficulties in narrative language and especially with use of evaluative enrichment devices. However, little is known about their production of event narratives. AIMS: To establish if children with ASD differ from typically developing peers in their production of general and specific event narratives, and, if so, how this might be affected by levels of oral language. METHODS & PROCEDURES: Performance on general and specific event narrative tasks of 27 high-functioning children with ASD, aged 11-14 years, was compared with that of language- and age-matched groups of typically developing children. Narratives were coded for structural and evaluative language measures. OUTCOMES & RESULTS: The general and specific event narratives of the ASD group differed from those of both comparison groups in structural language measures. They were shorter, contained fewer different word roots and had shorter mean length of utterances. In evaluative measures they differed from those of the typically developing age match group but not the younger language match group in the number of causal statements made in both event conditions, and in mental state references and evaluative devices in the specific event narrative condition. CONCLUSIONS & IMPLICATIONS: Children with ASD display specific difficulties with the use of grammar and vocabulary in event narratives which cannot be explained in terms of language levels. However, the use of evaluative devices was commensurate with oral language levels. Implications for intervention are discussed.
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6. Krumm N, O’Roak BJ, Karakoc E, Mohajeri K, Nelson B, Vives L, Jacquemont S, Munson J, Bernier R, Eichler EE. {{Transmission Disequilibrium of Small CNVs in Simplex Autism}}. {American journal of human genetics}. 2013 Sep 10.
We searched for disruptive, genic rare copy-number variants (CNVs) among 411 families affected by sporadic autism spectrum disorder (ASD) from the Simons Simplex Collection by using available exome sequence data and CoNIFER (Copy Number Inference from Exome Reads). Compared to high-density SNP microarrays, our approach yielded approximately 2x more smaller genic rare CNVs. We found that affected probands inherited more CNVs than did their siblings (453 versus 394, p = 0.004; odds ratio [OR] = 1.19) and that the probands’ CNVs affected more genes (921 versus 726, p = 0.02; OR = 1.30). These smaller CNVs (median size 18 kb) were transmitted preferentially from the mother (136 maternal versus 100 paternal, p = 0.02), although this bias occurred irrespective of affected status. The excess burden of inherited CNVs among probands was driven primarily by sibling pairs with discordant social-behavior phenotypes (p < 0.0002, measured by Social Responsiveness Scale [SRS] score), which contrasts with families where the phenotypes were more closely matched or less extreme (p > 0.5). Finally, we found enrichment of brain-expressed genes unique to probands, especially in the SRS-discordant group (p = 0.0035). In a combined model, our inherited CNVs, de novo CNVs, and de novo single-nucleotide variants all independently contributed to the risk of autism (p < 0.05). Taken together, these results suggest that small transmitted rare CNVs play a role in the etiology of simplex autism. Importantly, the small size of these variants aids in the identification of specific genes as additional risk factors associated with ASD.
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7. Majewska MD, Hill M, Urbanowicz E, Rok-Bujko P, Bienkowski P, Namyslowska I, Mierzejewski P. {{Marked elevation of adrenal steroids, especially androgens, in saliva of prepubertal autistic children}}. {European child & adolescent psychiatry}. 2013 Sep 17.
Autism is diagnosed on the basis of behavioral manifestations, but its biomarkers are not well defined. A strong gender bias typifying autism (it is 4-5 times more prevalent in males) suggests involvement of steroid hormones in autism pathobiology. In order to evaluate the potential roles of such hormones in autism, we compared the salivary levels of 22 steroids in prepubertal autistic male and female children from two age groups (3-4 and 7-9 years old) with those in healthy controls. The steroids were analyzed using gas chromatography-mass spectrometry and radioimmunoassay. Statistical analysis (ANOVA) revealed that autistic children had significantly higher salivary concentrations of many steroid hormones (both C21 and C19) than control children. These anomalies were more prominent in older autistic children and in boys. The levels of androgens (androstenediol, dehydroepiandrosterone, androsterone and their polar conjugates) were especially increased, indicative of precocious adrenarche and predictive of early puberty. The concentrations of the steroid precursor, pregnenolone, and of several pregnanolones were also higher in autistic than in healthy children, but cortisol levels were not different. Some steroids, whose levels are raised in autism (allopregnanolone, androsterone, pregnenolone, dehydroepiandrosterone and their sulfate conjugates) are neuroactive and modulate GABA, glutamate, and opioid neurotransmission, affecting brain development and functioning. These steroids may contribute to autism pathobiology and symptoms such as elevated anxiety, sleep disturbances, sensory deficits, and stereotypies among others. We suggest that salivary levels of selected steroids may serve as biomarkers of autism pathology useful for monitoring the progress of therapy.
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8. Oristaglio J, Hyman West S, Ghaffari M, Lech MS, Verma BR, Harvey JA, Welsh JP, Malone RP. {{Children with autism spectrum disorders show abnormal conditioned response timing on delay, but not trace, eyeblink conditioning}}. {Neuroscience}. 2013 Sep 17;248:708-18.
Children with autism spectrum disorder (ASD) and age-matched typically-developing (TD) peers were tested on two forms of eyeblink conditioning (EBC), a Pavlovian associative learning paradigm where subjects learn to execute an appropriately-timed eyeblink in response to a previously neutral conditioning stimulus (CS). One version of the task, trace EBC, interposes a stimulus-free interval between the presentation of the CS and the unconditioned stimulus (US), a puff of air to the eye which causes the subjects to blink. In delay EBC, the CS overlaps in time with the delivery of the US, usually with both stimuli terminating simultaneously. ASD children performed normally during trace EBC, exhibiting no differences from TD subjects with regard to the learning rate or the timing of the conditioned response. However, when subsequently tested on delay EBC, subjects with ASD displayed abnormally-timed conditioned eye blinks that began earlier and peaked sooner than those of TD subjects, consistent with previous findings. The results suggest an impaired ability of children with ASD to properly time conditioned eye blinks which appears to be specific to delay EBC. We suggest that this deficit may reflect a dysfunction of the cerebellar cortex in which increases in the intensity or duration of sensory input can temporarily disrupt the accuracy of motor timing over short temporal intervals.
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9. Peng DX, Kelley RG, Quintin EM, Raman M, Thompson PM, Reiss AL. {{Cognitive and behavioral correlates of caudate subregion shape variation in fragile X syndrome}}. {Human brain mapping}. 2013 Sep 13.
Individuals with fragile X syndrome (FXS) exhibit frontal lobe-associated cognitive and behavioral deficits, including impaired general cognitive abilities, perseverative behaviors, and social difficulties. Neural signals related to these functions are communicated through frontostriatal circuits, which connect with distinct regions of the caudate nucleus (CN). Enlargement of the CN is the most robust and reproduced neuroanatomical abnormality in FXS, but very little is known on how this affects behavioral/cognitive outcomes in this condition. Here, we investigated topography within focal regions of the CN associated with prefrontal circuitry and its link with aberrant behavior and intellect in FXS. Imaging data were acquired from 48 individuals with FXS, 28 IQ-matched controls without FXS (IQ-CTL), and 36 typically developing controls (TD-CTL). Of the total participant count, cognitive and behavioral assessment data were obtained from 44 individuals with FXS and 27 participants in the IQ-CTL group. CN volume and topography were compared between groups. Correlations were performed between CN topography and cognitive as well as behavioral measures within FXS and IQ-CTL groups. As expected, the FXS group had larger CN compared with both IQ-CTL and TD-CTL groups. Correlations between focal CN topography and frontal lobe-associated cognitive and behavioral deficits in the FXS group supported the hypothesis that CN enlargement is related to abnormal orbitofrontal-caudate and dorsolateral-caudate circuitry in FXS. These findings deepen our understanding of neuroanatomical mechanisms underlying cognitive-behavioral problems in FXS and hold promise for informing future behavioral and psychopharmacological interventions targeting specific neural pathways. Hum Brain Mapp, 2013. (c) 2013 Wiley Periodicals, Inc.
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10. Scheeren AM, Koot HM, Mundy PC, Mous L, Begeer S. {{Empathic Responsiveness of Children and Adolescents with High-Functioning Autism Spectrum Disorder}}. {Autism research : official journal of the International Society for Autism Research}. 2013 Aug 29.
Previous studies have shown reduced empathic responsiveness to others’ emotions in preschoolers with autism spectrum disorder (ASD) and an intellectual disability. However, age and intelligence may promote children’s empathic responsiveness. Therefore, we examined the empathic responsiveness in normally intelligent school-aged children and adolescents with a clinical diagnosis of ASD (n = 151) and in a typically developing comparison group (n = 50), using structured observations and parent reports. Based on the observations, participants’ responses to the emotional displays of an interviewer were surprisingly similar. However, compared with parents from the comparison group, parents of a child with ASD reported significantly fewer empathic responses, particularly when the child received a high score on the Autism Diagnostic Observation Schedule. Even though parents report a reduced empathic responsiveness in school-aged children and adolescents with ASD, it may be difficult to find these empathic limitations during brief observations in a structured setting. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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11. Shea L, Newschaffer CJ, Xie M, Myers SM, Mandell DS. {{Genetic testing and genetic counseling among medicaid-enrolled children with autism spectrum disorder in 2001 and 2007}}. {Human genetics}. 2013 Sep 15.
The rise in the prevalence of autism spectrum disorder (ASD) has resulted in increased efforts to understand the causes of this complex set of disorders that emerge early in childhood. Although research in this area is underway and yielding useful, but complex information about ASD, guidelines for the use of genetic testing and counseling among children with ASD conflict. The purpose of this study was to determine the frequency of use of genetic testing and counseling before the widespread implementation of clinical chromosomal microarray (CMA) to establish a baseline for the use of both services and to investigate potential disparities in the use of both services among children with ASD. We found that about two-thirds of children with ASD received genetic testing or counseling and the use of both services is increasing with time, even in the pre-CMA era. Being female and having a comorbid intellectual disability diagnosis both increased the likelihood of receiving genetic testing and genetic counseling. Initial discrepancies in the use of both services based on race/ethnicity suggest that troubling disparities observed in other services delivered to children with ASD and other mental health disorders persist in genetic testing and counseling as well. These results should incentivize further investigation of the impact of genetic testing and counseling on children with ASD and their families, and should drive efforts to explore and confront disparities in the delivery of these services, particularly with the advancing scientific research on this topic.
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12. Weigelt S, Koldewyn K, Kanwisher N. {{Face recognition deficits in autism spectrum disorders are both domain specific and process specific}}. {PloS one}. 2013;8(9):e74541.
ALTHOUGH MANY STUDIES HAVE REPORTED FACE IDENTITY RECOGNITION DEFICITS IN AUTISM SPECTRUM DISORDERS (ASD), TWO FUNDAMENTAL QUESTION REMAINS: 1) Is this deficit « process specific » for face memory in particular, or does it extend to perceptual discrimination of faces as well? And 2) Is the deficit « domain specific » for faces, or is it found more generally for other social or even nonsocial stimuli? The answers to these questions are important both for understanding the nature of autism and its developmental etiology, and for understanding the functional architecture of face processing in the typical brain. Here we show that children with ASD are impaired (compared to age and IQ-matched typical children) in face memory, but not face perception, demonstrating process specificity. Further, we find no deficit for either memory or perception of places or cars, indicating domain specificity. Importantly, we further showed deficits in both the perception and memory of bodies, suggesting that the relevant domain of deficit may be social rather than specifically facial. These results provide a more precise characterization of the cognitive phenotype of autism and further indicate a functional dissociation between face memory and face perception.
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13. Yuan Q, Liu YS, Yu YT, Luo QY, Huang XR, Zeng XY. {{[Treatment of autism children: observation on efficacy of behavior training with retention of needles on head]}}. {Zhongguo zhen jiu = Chinese acupuncture & moxibustion}. 2013 Jul;33(7):609-13.
OBJECTIVE: To observe the effect difference of behavior training with head needling retention and behavior training after acupuncture for autism children. METHODS: Sixty qualified autism children were divided randomly into simultaneous head needling retention and behavior training group (trial group) and behavior training after acupuncture treatment group (control group) with 30 case in each group. Retention needles on the head with simultaneous behavior training was applied for the trial group. The main acupoints included Sishen Xue, Dingshen Sanxue (3 points for mental tranquilization), Nao Sanxue (3 points for the function of brain), Shou Zhisanxue (3 points for mental activities on hand) and Zozhi Sonxue (3 points for mental activities on foot). Other points were combined according to conditions of patients. Needles on the 4 extremities were withdrawn first after 30 minutes, needles on head were remained during behavior training. While behavior training was applied to the control group when acupuncture treatment was completely accomplished. Treatments were applied once a day to both groups. And 3 months was taken as one observation cycle. Estimation was made on therapeutic effect and developing level of autism children with CARS and PEP. RESULTS: The total effective rate of the trial group was 83.3% (25/30), better than 66.7% (20/30) of the control group (P < 0.05). The CARS scores of both groups declined after the treatment. And the score of trail group was lower than the control group (all P < 0.05). While the PEP scores of both groups increased, and the score of trail group was higher than the control group (all P < 0.05). The increasing level of scores of cognitive understanding and cognitive expression were all better than the control group (all P < 0.05). CONCLUSION: The effect of behavior training with head needle retention on autism children is better than behavior training after acupuncture treatment, especially in enhancing cognition understanding and cognition expression.
14. Zhang XJ, Wu Q. {{[Effects of electroacupuncture at different acupoints on learning and memory ability and PSD-95 protein expression on hippocampus CA1 in rats with autism]}}. {Zhongguo zhen jiu = Chinese acupuncture & moxibustion}. 2013 Jul;33(7):627-31.
OBJECTIVE: To explore the effect mechanism of electroacupuncture (EA) at Changqiang (GV 1) or Baihui (GV 20) on autism based on molecular biology. METHODS: The autism model was established by intraperitoneal injection of sodium valproate (VPA) in Wistar pregnant rats. Forty young rats with autism were selected and randomly divided into a model group, a non-acupoint group, an electroacupuncture at « Changqiang » (GV 1) (EAGV 1 for short) group and an electroacupuncture at « Baihui » (GV 20) (EAGV 20 for short) group. Another 10 normal young rats were selected as a blank group. In the EAGV 1 group, acupuncture was applied at Houhai [as Changqiang (GV 1)], then EA apparatus was connected with continuous wave, 2 Hz, 20 min, once a day for consecutive 20 days. The same EA manipulation as EAGV 1 group was used in the EAGV 20 group where « Baihui » (GV 20) was selected and non-acupoint group where non-acupoint in the right rib was selected. Blank group and model group were reared under the same conditions without any intervention. The escape latency and the ratio of swimming distance in platform quadrant to total swimming distance in each group were observed by using Morris water maze, and the PSD-95 protein expression in hippocampal CA 1 was measured by immunohistochemical techniques. RESULTS: Compared with the blank group, the escape latency in the model group and the non-acupoint group lengthened (both P < 0.05), the ratio of swimming distance in platform quadrant to total swimming distance was decreased (both P < 0.05), the PSD-95 protein expression was decreased (P < 0.05). Compared with the model group, the escape latency in the EAGV 1 group and the EAGV 20 group were decreased (both P < 0.05), the ratio of swimming distance in platform quadrant to total swimming distance was increased, the PSD-95 protein expression was increased (both P < 0.05). But the escape latency, the ratio of swimming distance in platform quadrant to total swimming distance and the PSD-95 protein expression had no significant difference between EAGV 1 group and EAGV 20 group (P > 0.05). CONCLUSION: Electroacupuncture at Changqiang (GV 1) or Baihui (GV 20) can respectively improve learning and memory ability of rats with autism, which has no significant difference and the mechanism of action may be related to regulation of the PSD-95 protein expression.
