1. {{Speak the language of autism}}. {Nurse Pract} (Apr);35(4):33-34.
2. Al Anbar NN, Dardennes RM, Prado-Netto A, Kaye K, Contejean Y. {{Treatment choices in autism spectrum disorder: The role of parental illness perceptions}}. {Res Dev Disabil} (Mar 16)
A cross-sectional design was employed. Parents of a child with Autism Spectrum Disorder (ASD) were asked to complete a modified version of the Revised Illness-Perception Questionnaire (IPQ-RA) and answer questions about information-seeking activities and treatments used. Internal consistency, construct validity, and factor structure were assessed. Multivariate logistic regressions were performed. Eighty-nine parents having a child with ASD took part in the study. Five subscales of the IPQ-R were replicated. Causes were split into personal, external and hereditary factors. The most highly rated main cause was a genetic cause. Perception of seriousness of the disease was associated with the use of educative methods and unpredictable course of disorder associated with drug use. A higher sense of personal control was associated with reduced use of nutritional or pharmaceutical treatments. Attendance to training programs was associated with higher hereditary beliefs and lower perception of cyclical timeline. The IPQ-RA captures components of representations of autism and provides a reliable mean for exploring illness concept in parents of a child with ASD. Some illness dimensions may prevent parents from having the opportunity to modify their concept of autism. Such measure may be useful for assessing the modification of potentially malleable beliefs with psychoeducational interventions.
3. Auber B, Burfeind P, Thiels C, Alsat EA, Shoukier M, Liehr T, Nelle H, Bartels I, Salinas-Riester G, Laccone F. {{An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient}}. {Clin Genet} (Mar 1)
4. Chien WH, Gau SS, Wu YY, Huang YS, Fang JS, Chen YJ, Soong WT, Chiu YN, Chen CH. {{Identification and molecular characterization of two novel chromosomal deletions associated with autism}}. {Clin Genet} (Feb 11)
Chien W-H, Gau SS-F, Wu Y-Y, Huang Y-S, Fang J-S, Chen Y-J, Soong W-T, Chiu Y-N, Chen C-H. Identification and molecular characterization of two novel chromosomal deletions associated with autism. Autism is a childhood-onset neurodevelopmental disorder with a strong genetic basis in its etiology. Conventional karyotype analysis has revealed that chromosomal structural aberrations such as translocation, inversion, deletion, and duplication play a role in causing autism spectrum disorders (ASD). In addition, recent array-based comparative genomic hybridization (array CGH) studies discovered that submicroscopic deletion and duplication of DNA segments also contributed significantly to the genetic etiology of ASD. Together, these studies indicate that genomic rearrangement is an important genetic mechanism of ASD. Using karyotyping analysis and array CGH technology, we identified a subtelomeric deletion of approximately 6.8 Mb at 4q35.1-35.2 and a terminal deletion of approximately 2.4 Mb at 8p23.2-pter in two autistic boys, respectively. These two deletions were further validated using fluorescent in situ hybridization and real-time quantitative polymerase chain reaction, and their breakpoints were delineated using high-resolution array CGH. The 4q deletion is a rare de novo mutation, while the transmission of 8p deletion is unknown, because the father of the patient was unavailable for study. These two deletions are rare mutations and were not found in the additional 282 patients with ASD and in the 300 control subjects in our population. The identification of these two chromosomal deletions contribute to our understanding of the genetic basis of ASD, and the haploinsufficiency of several genes located at the deleted regions of chromosome 8p and 4q may contribute to the clinical phenotypes of autism.
5. Cobb S, Guy J, Bird A. {{Reversibility of functional deficits in experimental models of Rett syndrome}}. {Biochem Soc Trans} (Apr 1);38(2):498-506.
Mutations in the X-linked MECP2 gene are the primary cause of the severe autism spectrum disorder RTT (Rett syndrome). Deletion of Mecp2 in mice recapitulates many of the overt neurological features seen in humans, and the delayed onset of symptoms is accompanied by deficits in neuronal morphology and synaptic physiology. Recent evidence suggests that reactivation of endogenous Mecp2 in young and adult mice can reverse aspects of RTT-like pathology. In the current perspective, we discuss these findings as well as other genetic, pharmacological and environmental interventions that attempt phenotypic rescue in RTT. We believe these studies provide valuable insights into the tractability of RTT and related conditions and are useful pointers for the development of future therapeutic strategies.
6. Frye CA, Llaneza DC. {{Corticosteroid and Neurosteroid Dysregulation in an Animal Model of Autism, BTBR Mice}}. {Physiol Behav} (Mar 15)
Autism spectrum disorders (ASD) are a constellation of neurodevelopmental disorders associated with disruptions in social, cognitive, and/or motor behaviors. ASD are more prevalent among males than females and characterized by aberrant social and language development, and a dysregulation in stress responding. Levels of progesterone (P(4)) and its metabolite 5alpha-pregnan-3alpha-ol-20-one (3alpha,5alpha-THP) are higher and more variable in females compared to males. 3alpha,5alpha-THP is also a neurosteroid, which can be rapidly produced de novo in the brain, independent of peripheral gland secretion, and can exert homeostatic effects to modulate stress responding. An inbred mouse strain that has demonstrated an ASD-like behavioral and neuroendocrine phenotype is BTBR T+tf/J (BTBR). BTBR mice have deficits in cognitive and social behavior and have high circulating levels of the stress hormone, corticosterone. We hypothesized that central 3alpha,5alpha-THP levels would be different among BTBR mice compared to mice on a similar background C57BL/6J (C57/J) and 129S1/SvlmJ (129S1). Tissues were collected from BTBR, C57/J and 129S1 male mice and levels of corticosterone, P(4), and 3alpha,5alpha-THP in plasma and hypothalamus, midbrain, hippocampus, and cerebellum were measured by radioimmunoassay. Circulating levels of corticosterone, P(4), and 3alpha,5alpha-THP were significantly higher among BTBR, than C57/J and 129S1, mice. Levels of P(4) in the cerebellum were significantly higher than other brain regions among all mouse strains. Levels of 3alpha,5alpha-THP in the hypothalamus of BTBR mice were significantly higher compared to C57/J and 129S1 mice. These findings suggest that neuroendocrine dysregulation among BTBR mice extends to 3alpha,5alpha-THP.
7. Fujii E, Mori K, Miyazaki M, Hashimoto T, Harada M, Kagami S. {{Function of the frontal lobe in autistic individuals: a proton magnetic resonance spectroscopic study}}. {J Med Invest} (Feb);57(1-2):35-44.
Purpose. In this investigation, we studied differences in chemical metabolites in certain brain regions between autistic patients and normal control subjects. Methods. Proton magnetic resonance spectroscopy ((1)H-MRS) was used to evaluate functional activity in these regions. Specific regions studied were right and left dorsolateral prefrontal cortex(DLPFC) and the anterior cingulated cortex(ACC). Results. In the ACC, the N-acetylaspartate(NAA)/creatine/phosphocreatine(Cr) ratio in autistic patients (n=31) was significantly lower than that in control subjects (n=28). The decrease in the NAA/Cr ratio for the ACC was much greater in the group with worst social ability. NAA/Cr for the left DLPFC and social ability of autistic patients also correlated well. Furthermore, NAA/Cr for the left DLPFC in the group with intelligence quotient (IQ) below 50 was significantly less than in controls. NAA/Cr for the right DLPFC in autistic patients was not decreased compared to controls, and did not correlate with IQ or social ability. Conclusions. These findings suggest neuronal dysfunction in the ACC and left DLPFC in autism, and also a relationship between social disability and metabolic dysfunction in these regions. Dysfunction in the ACC and the left DLPFC may contribute to the pathogenesis of autism. J. Med. Invest. 57: 35-44, February, 2010.
8. Maras KL, Bowler DM. {{The Cognitive Interview for Eyewitnesses with Autism Spectrum Disorder}}. {J Autism Dev Disord} (Mar 19)
The cognitive interview (CI) is one of the most widely accepted forms of interviewing techniques for eliciting the most detailed, yet accurate reports from witnesses. No research, however, has examined its effectiveness with witnesses with autism spectrum disorder (ASD). Twenty-six adults with ASD and 26 matched typical adults viewed a video of an enacted crime, and were then interviewed with either a CI, or a structured interview (SI) without the CI mnemonics. Groups did not differ on the quantity or quality of their reports when interviewed with a SI, however, when interviewed with a CI the ASD group was significantly less accurate. Findings indicate that investigative professionals should be cautious in relying on the CI to interview witnesses with ASD.
9. Marshall J, Sheller B, Mancl L. {{Caries-risk Assessment and Caries Status of Children with Autism}}. {Pediatr Dent} (Jan-Feb);32(1):69-75.
PURPOSE: This paper’s purpose was to describe the caries status of children with autism and explore associations with the Caries-risk Assessment Tool promoted by the American Academy of Pediatric Dentistry. METHODS: Data was collected from children with autism, their parents, and dentists using interviews, surveys, and treatment records. Descriptive statistics and bivariate analysis explored the association of new caries activity and caries experience with oral health measures. RESULTS: Subjects were 75 males and 24 females with a mean age (+/-SD) of 9.7 years (+/-3.7), (range=2.7 to 19 years). Children </=7 years old had more new caries (60%) than older children (34%; P=.05). Although not statistically significant, all children who brushed less than once per day had new caries and a mean t-DMF-T (def + DMF) of 73. Children with poor oral hygiene had more new caries (59%) than those with good/excellent hygiene (28%; P=.06). Caries status was not associated with gender, socioeconomic status, medical history, appointment type, dental home, food rewards, restricted diets, and some hygiene habits. CONCLUSIONS: This study confirms the validity of considering autism as an indicator of high caries risk. Oral hygiene may be the most influential risk indicator associated with new caries in children with autism.
10. McCravy S, Johnson A, Wetsel MA, Konz L. {{Speak the language of autism}}. {Nurse Pract} (Apr);35(4):26-33.
11. Mines MA, Yuskaitis CJ, King MK, Beurel E, Jope RS. {{GSK3 Influences Social Preference and Anxiety-Related Behaviors during Social Interaction in a Mouse Model of Fragile X Syndrome and Autism}}. {PLoS One};5(3):e9706.
BACKGROUND: Nearly 1% of children in the United States exhibit autism spectrum disorders, but causes and treatments remain to be identified. Mice with deletion of the fragile X mental retardation 1 (Fmr1) gene are used to model autism because loss of Fmr1 gene function causes Fragile X Syndrome (FXS) and many people with FXS exhibit autistic-like behaviors. Glycogen synthase kinase-3 (GSK3) is hyperactive in brains of Fmr1 knockout mice, and inhibition of GSK3 by lithium administration ameliorates some behavioral impairment in these mice. We extended our studies of this association by testing whether GSK3 contributes to socialization behaviors. This used two mouse models with disrupted regulation of GSK3, Fmr1 knockout mice and GSK3 knockin mice, in which inhibitory serines of the two isoforms of GSK3, GSK3alpha and GSK3beta, are mutated to alanines, leaving GSK3 fully active. METHODOLOGY/PRINCIPAL FINDINGS: To assess sociability, test mice were introduced to a restrained stimulus mouse (S1) for 10 min, followed by introduction of a second restrained stimulus mouse (S2) for 10 min, which assesses social preference. Fmr1 knockout and GSK3 knockin mice displayed no deficit in sociability with the S1 mouse, but unlike wild-type mice neither demonstrated social preference for the novel S2 mouse. Fmr1 knockout mice displayed more anxiety-related behaviors during social interaction (grooming, rearing, and digging) than wild-type mice, which was ameliorated by inhibition of GSK3 with chronic lithium treatment. CONCLUSIONS/SIGNIFICANCE: These results indicate that impaired inhibitory regulation of GSK3 in Fmr1 knockout mice may contribute to some socialization deficits and that lithium treatment can ameliorate certain socialization impairments. As discussed in the present work, these results suggest a role for GSK3 in social behaviors and implicate inhibition of GSK3 as a potential therapeutic.
12. Morsanyi K, Handley SJ, Evans JS. {{Decontextualised Minds: Adolescents with Autism are Less Susceptible to the Conjunction Fallacy than Typically Developing Adolescents}}. {J Autism Dev Disord} (Mar 17)
The conjunction fallacy has been cited as a classic example of the automatic contextualisation of problems. In two experiments we compared the performance of autistic and typically developing adolescents on a set of conjunction fallacy tasks. Participants with autism were less susceptible to the conjunction fallacy. Experiment 2 also demonstrated that the difference between the groups did not result from increased sensitivity to the conjunction rule, or from impaired processing of social materials amongst the autistic participants. Although adolescents with autism showed less bias in their reasoning they were not more logical than the control group in a normative sense. The findings are discussed in the light of accounts which emphasise differences in contextual processing between typical and autistic populations.
13. Ploog BO. {{Stimulus Overselectivity Four Decades Later: A Review of the Literature and Its Implications for Current Research in Autism Spectrum Disorder}}. {J Autism Dev Disord} (Mar 18)
This review of several topics related to « stimulus overselectivity » (Lovaas et al., J Abnormal Psychol 77:211-222, 1971) has three main purposes: (1) To outline the factors that may contribute to overselectivity; (2) to link the behavior-analytical notion of overselectivity to current nonbehavior-analytical research and theory; and (3) to suggest remedial strategies based on the behavior-analytical approach. While it is clear that overselectivity is not specific to autism spectrum disorder (ASD) and also that not all persons with ASD exhibit overselectivity, it is prevalent in ASD and has critical implications for symptoms, treatment, research, and theory. Weak Central Coherence and Enhanced Perceptual Functioning theories are briefly considered. The research areas addressed here include theory of mind, joint attention, language development, and executive function.
14. Reichenberg A, Gross R, Sandin S, Susser ES. {{Advancing Paternal and Maternal Age Are Both Important For Autism Risk}}. {Am J Public Health} (Mar 18)
This letter does not have an abstract.
15. Vignoli A, Fabio RA, La Briola F, Giannatiempo S, Antonietti A, Maggiolini S, Canevini MP. {{Correlations between neurophysiological, behavioral, and cognitive function in Rett syndrome}}. {Epilepsy Behav} (Mar 15)
Rett syndrome, a neurodevelopmental disorder affecting mainly females, is caused by a mutation of the MeCP2 gene. Girls with Rett syndrome manifest diverse behavioral and cognitive phenotypes, and the reasons for this variability remain unknown. In addition, girls with Rett syndrome often have epileptic seizures and abnormal EEGs, the characteristics of which differ with the patient. The aim of the study was to verify if neurophysiological and epileptological characteristics could be correlated with cognitive measures, obtained using eye tracker technology, and behavioral scores (Vineland Adaptive Behavior Scales and Rett Assessment Rating Scale) in 18 patients with Rett syndrome (mean age 13.7years) at clinical stages III and IV. Age at epilepsy onset and seizure frequency were strictly correlated with neuropsychological outcome, as were EEG stage and distribution of paroxysmal abnormalities. Our findings demonstrate that neurophysiological features should be considered prognostic of cognitive and behavioral outcome in the clinical management of Rett syndrome.
16. Wachtel LE, Hermida A, Dhossche DM. {{Maintenance electroconvulsive therapy in autistic catatonia: A case series review}}. {Prog Neuropsychopharmacol Biol Psychiatry} (Mar 15)
The usage of electroconvulsive therapy for the acute resolution of catatonia in autistic children and adults is a novel area that has received increased attention over the past few years. Reported length of the acute ECT course varies among these patients, and there is no current literature on maintenance ECT in autism. The maintenance ECT courses of three patients with autism who developed catatonia are presented. Clinical, research, legal, and administrative implications for ECT treatment in this special population are discussed.
17. Webb SJ, Jones EJ, Merkle K, Namkung J, Toth K, Greenson J, Murias M, Dawson G. {{Toddlers with Elevated Autism Symptoms Show Slowed Habituation to Faces}}. {Child Neuropsychol} (Mar 18):1-24.
We explored social information processing and its relation to social and communicative symptoms in toddlers with Autism Spectrum Disorder (ASD) and their siblings. Toddlers with more severe symptoms of autism showed slower habituation to faces than comparison groups; slower face learning correlated with poorer social skills and lower verbal ability. Unaffected toddlers who were siblings of children with ASD also showed slower habituation to faces compared with toddlers without siblings with ASD. We conclude that slower rates of face learning may be an endophenotype of ASD and is associated with more severe symptoms among affected individuals.
18. Wilkinson DA, Best CA, Minshew NJ, Strauss MS. {{Memory Awareness for Faces in Individuals with Autism}}. {J Autism Dev Disord} (Mar 19)
Little is known regarding metacognition in individuals with autism. Specifically, it is unclear how individuals with autism think about their own mental states. The current study assessed memory awareness during a facial recognition task. High-functioning children (M = 13.1 years, n = 18) and adults (M = 27.5 years, n = 16) with autism matched with typically developing children (M = 14.3 years, n = 13) and adults (M = 26.9 years, n = 15) were tested. Children with autism demonstrated less accurate memory awareness for faces and less reliable differentiation between their confidence ratings compared to typically developing children. Subtle impairments in memory awareness for faces were also evident in adults with autism. Results indicate that broader metacognitive deficits may exist in individuals with autism, possibly contributing to other known impairments.
