1. Ashburner J, Bennett L, Rodger S, Ziviani J. {{Understanding the sensory experiences of young people with autism spectrum disorder: A preliminary investigation}}. {Aust Occup Ther J};2013 (Jun);60(3):171-180.
BACKGROUND/AIM: Unusual responses to sensations can impact upon the daily activities for individuals with autism spectrum disorder. Current understandings of these sensory experiences have been drawn from the proxy reports from parents/caregivers, standardised self-report questionnaires and autobiographical accounts. As sensory experiences are intensely personal, the first-hand accounts of people with autism spectrum disorder may have greater validity than caregiver reports, but these have never been systematically researched. This study explored the utility of using a semi-structured interview protocol augmented with visual cues to facilitate our understanding of the way people with autism spectrum disorder experience sensory input, and use coping strategies to manage sensory issues that interfere with participation. METHOD: A semi-structured interview augmented by visual cues was used to investigate the sensory experiences of three adolescent males with autism spectrum disorder. As is common in this population, two of the participants also had a diagnosis of Attention Deficit Hyperactivity Disorder and were taking stimulant medication. RESULTS: Participants shared a preference for expected, predictable and controllable sensory input, whereas unexpected, unpredictable and uncontrollable sensations were perceived as unpleasant. A heightened awareness of and difficulty filtering extraneous sensory input, high levels of movement seeking and an over-focus on salient sensory input were also described. Strategies employed to manage sensory challenges included avoiding, increasing predictability and control and meta-cognitive adaptations. CONCLUSIONS: Further research involving a larger sample of participants is recommended to determine the utility of using a semi-structured interview protocol augmented with visual cues to understand the sensory experiences of individuals with high-functioning autism spectrum disorder.
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2. Barendse EM, Hendriks MP, Jansen JF, Backes WH, Hofman PA, Thoonen G, Kessels RP, Aldenkamp AP. {{Working memory deficits in high-functioning adolescents with autism spectrum disorders: neuropsychological and neuroimaging correlates}}. {J Neurodev Disord};2013;5(1):14.
Working memory is a temporary storage system under attentional control. It is believed to play a central role in online processing of complex cognitive information and may also play a role in social cognition and interpersonal interactions. Adolescents with a disorder on the autism spectrum display problems in precisely these domains. Social impairments, communication difficulties, and repetitive interests and activities are core domains of autism spectrum disorders (ASD), and executive function problems are often seen throughout the spectrum. As the main cognitive theories of ASD, including the theory of mind deficit hypotheses, weak central coherence account, and the executive dysfunction theory, still fail to explain the broad spectrum of symptoms, a new perspective on the etiology of ASD is needed. Deficits in working memory are central to many theories of psychopathology, and are generally linked to frontal-lobe dysfunction. This article will review neuropsychological and (functional) brain imaging studies on working memory in adolescents with ASD. Although still disputed, it is concluded that within the working memory system specific problems of spatial working memory are often seen in adolescents with ASD. These problems increase when information is more complex and greater demands on working memory are made. Neuroimaging studies indicate a more global working memory processing or connectivity deficiency, rather than a focused deficit in the prefrontal cortex. More research is needed to relate these working memory difficulties and neuroimaging results in ASD to the behavioral difficulties as seen in individuals with a disorder on the autism spectrum.
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3. Boccuto L, Chen CF, Pittman AR, Skinner CD, McCartney HJ, Jones K, Bochner BR, Stevenson RE, Schwartz CE. {{Decreased tryptophan metabolism in patients with autism spectrum disorders}}. {Mol Autism};2013 (Jun 3);4(1):16.
BACKGROUND: Autism spectrum disorders (ASDs) are relatively common neurodevelopmental conditions whose biological basis has been incompletely determined. Several biochemical markers have been associated with ASDs, but there is still no laboratory test for these conditions. METHODS: We analyzed the metabolic profile of lymphoblastoid cell lines from 137 patients with neurodevelopmental disorders with or without ASDs and 78 normal individuals, using Biolog Phenotype MicroArrays. RESULTS: Metabolic profiling of lymphoblastoid cells revealed that the 87 patients with ASD as a clinical feature, as compared to the 78 controls, exhibited on average reduced generation of NADH when tryptophan was the sole energy source. The results correlated with the behavioral traits associated with either syndromal or non-syndromal autism, independent of the genetic background of the individual. The low level of NADH generation in the presence of tryptophan was not observed in cell lines from non-ASD patients with intellectual disability, schizophrenia or conditions exhibiting several similarities with syndromal autism except for the behavioral traits. Analysis of a previous small gene expression study found abnormal levels for some genes involved in tryptophan metabolic pathways in 10 patients. CONCLUSIONS: Tryptophan is a precursor of important compounds, such as serotonin, quinolinic acid, and kynurenic acid, which are involved in neurodevelopment and synaptogenesis. In addition, quinolinic acid is the structural precursor of NAD+, a critical energy carrier in mitochondria. Also, the serotonin branch of the tryptophan metabolic pathway generates NADH. Lastly, the levels of quinolinic and kynurenic acid are strongly influenced by the activity of the immune system. Therefore, decreased tryptophan metabolism may alter brain development, neuroimmune activity and mitochondrial function. Our finding of decreased tryptophan metabolism appears to provide a unifying biochemical basis for ASDs and perhaps an initial step in the development of a diagnostic assay for ASDs.
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4. Burke JP, Jain A, Yang W, Kelly JP, Kaiser M, Becker L, Lawer L, Newschaffer CJ. {{Does a claims diagnosis of autism mean a true case?}}. {Autism};2013 (Jun 5)
The purpose of this study was to validate autism spectrum disorder cases identified through claims-based case identification algorithms against a clinical review of medical charts. Charts were reviewed for 432 children who fell into one of the three following groups: (a) more than or equal to two claims with an autism spectrum disorder diagnosis code (n = 182), (b) one claim with an autism spectrum disorder diagnosis code (n = 190), and (c) those who had no claims for autism spectrum disorder but had claims for other developmental or neurological conditions (n = 60). The algorithm-based diagnoses were compared with documented autism spectrum disorders in the medical charts. The algorithm requiring more than or equal to two claims for autism spectrum disorder generated a positive predictive value of 87.4%, which suggests that such an algorithm is a valid means to identify true autism spectrum disorder cases in claims data.
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5. Enticott PG, Kennedy HA, Rinehart NJ, Bradshaw JL, Tonge BJ, Daskalakis ZJ, Fitzgerald PB. {{Interpersonal motor resonance in autism spectrum disorder: evidence against a global « mirror system » deficit}}. {Front Hum Neurosci};2013;7:218.
The mirror neuron hypothesis of autism is highly controversial, in part because there are conflicting reports as to whether putative indices of mirror system activity are actually deficient in autism spectrum disorder (ASD). Recent evidence suggests that a typical putative mirror system response may be seen in people with an ASD when there is a degree of social relevance to the visual stimuli used to elicit that response. Individuals with ASD (n = 32) and matched neurotypical controls (n = 32) completed a transcranial magnetic stimulation (TMS) experiment in which the left primary motor cortex (M1) was stimulated during the observation of static hands, individual (i.e., one person) hand actions, and interactive (i.e., two person) hand actions. Motor-evoked potentials (MEP) were recorded from the contralateral first dorsal interosseous, and used to generate an index of interpersonal motor resonance (IMR; a putative measure of mirror system activity) during action observation. There was no difference between ASD and NT groups in the level of IMR during the observation of these actions. These findings provide evidence against a global mirror system deficit in ASD, and this evidence appears to extend beyond stimuli that have social relevance. Attentional and visual processing influences may be important for understanding the apparent role of IMR in the pathophysiology of ASD.
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6. Kuhl PK, Coffey-Corina S, Padden D, Munson J, Estes A, Dawson G. {{Brain responses to words in 2-year-olds with autism predict developmental outcomes at age 6}}. {PLoS One};2013;8(5):e64967.
Autism Spectrum Disorder (ASD) is a developmental disability that affects social behavior and language acquisition. ASD exhibits great variability in outcomes, with some individuals remaining nonverbal and others exhibiting average or above average function. Cognitive ability contributes to heterogeneity in autism and serves as a modest predictor of later function. We show that a brain measure (event-related potentials, ERPs) of word processing in children with ASD, assessed at the age of 2 years (N = 24), is a broad and robust predictor of receptive language, cognitive ability, and adaptive behavior at ages 4 and 6 years, regardless of the form of intensive clinical treatment during the intervening years. The predictive strength of this brain measure increases over time, and exceeds the predictive strength of a measure of cognitive ability, used here for comparison. These findings have theoretical implications and may eventually lead to neural measures that allow early prediction of developmental outcomes as well as more individually tailored clinical interventions, with the potential for greater effectiveness in treating children with ASD.
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7. McBride SM, Holloway SL, Jongens TA. {{Using as a tool to identify Pharmacological Therapies for Fragile X Syndrome}}. {Drug Discov Today Technol};2012 (Sep 24);10(1):e129-e136.
Despite obvious differences such as the ability to fly, the fruit fly Drosophila melanogaster is similar to humans at many different levels of complexity. Studies of development, cell growth and division, metabolism, and even cognition, have borne out these similarities. For example, Drosophila bearing mutations in the fly gene homologue of the known human disease Fragile X, are affected in fundamentally similar ways as affected humans. The ramification of this degree of similarity is that Drosophila, as a model organism, is a rich resource for learning about human cells, development and even human cognition and behavior. Drosophila has a short generation time of ten days, is cheap to propagate and maintain and has a vast array of genetic tools available to it; making Drosophila an extremely attractive organism for the study of human disease. Here, we summarize research from our lab and others using Drosophila to understand the human neurological disease, called Fragile X. We focus on the Drosophila model of fragile X, its characterization, and use as a tool to identify potential drugs for the treatment of Fragile X. Several clinical trials are in progress now that were motivated by this research.
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8. Pomara G, Francesca F. {{[Endoscopic Resection. Aspects of technique and optimization of outcomes. Current indications to PDD-guided resection]}}. {Urologia};2013 (May 7);80 Suppl 21:16-19.
Trans-Urethral Resection (TUR) of bladder tumors is the gold standard to make the correct diagnosis and remove all visible lesions. The strategy of resection depends on the size of the lesion. Small tumors can be resected en bloc, while larger tumors should be resected separately in fractions to obtain a correct pathological diagnosis. Random biopsies from normal-looking mucosa should be performed in patients with positive urinary cytology and absence of visible tumor in the bladder. As a standard procedure, cystoscopy and TUR are performed using white light. Photodynamic diagnosis (PDD) is most useful for detecting CIS, and therefore should be restricted to those patients with a suspected high-grade tumor.
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9. Pradhan T, Hardan A. {{Priapism Associated with Risperidone in a 21-Year-Old Male with Autism}}. {J Child Adolesc Psychopharmacol};2013 (Jun 5)
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10. Rao PA, Landa RJ. {{Association between severity of behavioral phenotype and comorbid attention deficit hyperactivity disorder symptoms in children with autism spectrum disorders}}. {Autism};2013 (Jun 5)
Autism spectrum disorder and attention deficit hyperactivity disorder are neurodevelopmental disorders that cannot be codiagnosed under existing diagnostic guidelines (Diagnostic and Statistical Manual of the American Psychiatric Association, 4th ed., text rev.). However, reports are emerging that attention deficit hyperactivity disorder is sometimes comorbid with autism spectrum disorder. In the current study, we examined rates of parent-reported clinically significant symptoms of attention deficit hyperactivity disorder in school-aged children (4-8 years) with autism spectrum disorder, most of whom were first enrolled in our research protocols as toddlers. Results revealed that children with autism spectrum disorder and attention deficit hyperactivity disorder had lower cognitive functioning, more severe social impairment, and greater delays in adaptive functioning than children with autism spectrum disorder only. Implications for clinical practice include the need to assess for attention deficit hyperactivity disorder symptoms at an early age in children diagnosed with autism spectrum disorder. Research is needed to determine efficacious interventions for young children with autism spectrum disorder with comorbid attention deficit hyperactivity disorder to optimize outcomes.
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11. Samadi SA, McConkey R. {{The utility of the Gilliam autism rating scale for identifying Iranian children with autism}}. {Disabil Rehabil};2013 (Jun 5)
Abstract Purpose: Screening and assessment tools for developmental disabilities such as autism may need to be adjusted to particular cultures. The aim of this study was to evaluate the use in Iran of a rating scale for autism commonly used in western society. Method: A Persian translation of the GARS was completed by parents of 658 children: 442 who had been diagnosed with Autism; 112 intellectually disabled and 102 normally developing. The psychometric properties of the subscales were assessed and comparisons made across the three groups. Results: Factor analysis broadly confirmed the three subscales; each of which had high internal consistency. Individuals with autism were clearly distinguished from the other two groups and a cut-off score was identified that maximised the scale’s sensitivity and specificity. Ten items were identified that best discriminated the three groups and these could form the basis for a shorter screening tool as they had good internal reliability and predictive validity. Conclusions: Iranian parents identified items relating to impaired social interaction and repetitive behaviours as more indicative of autism rather than those relating to communication and language. Attuning screening tools to cultural contexts is an important step towards a better understanding of autism internationally. Implications for Rehabilitation Early identification of autism enables appropriate interventions to be commenced and support offered to families. Screening tools developed in western society needs to be evaluated for their suitability in other cultures internationally as well as with immigrant communities. Iranian professionals working in child development clinics could use the translated version of GARS with some confidence. In addition a shorter screening tool was developed comprising 10 autistic traits that were especially salient to an Iranian culture.
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12. Shuster J, Perry A, Bebko J, Toplak ME. {{Review of Factor Analytic Studies Examining Symptoms of Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Jun 1)
Factor analytic studies have been conducted to examine the inter-relationships and degree of overlap among symptoms in Autism Spectrum Disorder (ASD). This paper reviewed 36 factor analytic studies that have examined ASD symptoms, using 13 different instruments. Studies were grouped into three categories: Studies with all DSM-IV symptoms, studies with a subset of DSM-IV symptoms, and studies with symptoms that were not specifically based on the DSM-IV. There was consistent support for a common social/communication domain that is distinct from a restricted and repetitive behaviours and interests domain. Implications for symptom conceptualization and diagnosis in ASD are discussed.
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13. Suren P, Susser E, Stoltenberg C. {{Maternal folic acid supplementation and risk of autism–reply}}. {JAMA};2013 (Jun 5);309(21):2208.
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14. Vahabzadeh A, McDougle CJ. {{Maternal folic acid supplementation and risk of autism}}. {JAMA};2013 (Jun 5);309(21):2208.
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15. Weiss MJ, Moran MF, Parker ME, Foley JT. {{Gait analysis of teenagers and young adults diagnosed with autism and severe verbal communication disorders}}. {Front Integr Neurosci};2013;7:33.
Both movement differences and disorders are common within autism spectrum disorders (ASD). These differences have wide and heterogeneous variability among different ages and sub-groups all diagnosed with ASD. Gait was studied in a more homogeneously identified group of nine teenagers and young adults who scored as « severe » in both measures of verbal communication and overall rating of Autism on the Childhood Autism Rating Scales (CARS). The ASD individuals were compared to a group of typically developing university undergraduates of similar ages. All participants walked a distance of 6-meters across a GAITRite (GR) electronic walkway for six trials. The ASD and comparison groups differed widely on many spatiotemporal aspects of gait including: step and stride length, foot positioning, cadence, velocity, step time, gait cycle time, swing time, stance time, and single and double support time. Moreover, the two groups differed in the percentage of the total gait cycle in each of these phases. The qualitative rating of « Body Use » on the CARS also indicated severe levels of unusual body movement for all of the ASD participants. These findings demonstrate that older teens and young adults with « severe » forms of Verbal Communication Impairments and Autism differ widely in their gait from typically developing individuals. The differences found in the current investigation are far more pronounced compared to previous findings with younger and/or less severely involved individuals diagnosed with ASD as compared to typically developing controls. As such, these data may be a useful anchor-point in understanding the trajectory of development of gait specifically and motor functions generally.
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16. Zakrajsek AG, Hammel J, Scazzero JA. {{Supporting People with Intellectual and Developmental Disabilities to Participate in their Communities through Support Staff Pilot Intervention}}. {J Appl Res Intellect Disabil};2013 (Jun 4)
BACKGROUND: Increasingly, people with intellectual and developmental disabilities (I/DD) are supported to participate in least-restricted settings in the community. However, little is known about desired community participation choice and control of people with I/DD, nor effective strategies to support full participation. Furthermore, service providers of this population in community and residential settings have unique roles in influencing choice and control in community participation. RESEARCH AIM: The purpose of this project is to empower adults with I/DD in community participation by collaborating with agency staff and administrators to strategize change in service provision and programming. METHODS: This article describes the development, imple-mentation and mixed-methods evaluation of a pilot staff intervention. RESULTS: Findings indicate staff who participated in pilot intervention report increased confidence in supporting adults with I/DD to participate in their communities. CONCLUSIONS: Intervention development has implications for staff, administrators and agencies in planning and executing opportunities to support choice and control for community participation for adults with I/DD.
