1. Adams NC, Jarrold C. {{Inhibition in Autism: Children with Autism have Difficulty Inhibiting Irrelevant Distractors but not Prepotent Responses}}. {J Autism Dev Disord};2011 (Aug 10)
Resistance to distractor inhibition tasks have previously revealed impairments in children with autism. However, on the classic Stroop task and other prepotent response tasks, children with autism show intact inhibition. These data may reflect a distinction between prepotent response and resistance to distractor inhibition. The current study investigated this possibility using tasks that systematically manipulated inhibitory load. Findings showed that children with autism performed comparably to typically developing and learning disabled controls on a prepotent response inhibition stop-signal task but showed significant inhibitory impairment on a modified flanker resistence to distractor inhibition task. Although the results are clearly consistent with the suggestion that autism is associated with a specific deficit in resistance to distractor inhibition, they may in fact be related to an increased perceptual capacity in autism.
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2. Lamonica DA, Ferraz PM, Ferreira AT, Prado LM, Abramides DV, Gejao MG. {{Fragile X syndrome with Dandy-Walker variant: a clinical study of oral and written communicative manifestations}}. {J Soc Bras Fonoaudiol};2011;23(2):177-182.
The Fragile X syndrome is the most frequent cause of inherited intellectual disability. The Dandy-Walker variant is a specific constellation of neuroradiological findings. The present study reports oral and written communication findings in a 15-year-old boy with clinical and molecular diagnosis of Fragile X syndrome and neuroimaging findings consistent with Dandy-Walker variant. The speech-language pathology and audiology evaluation was carried out using the Communicative Behavior Observation, the Phonology assessment of the ABFW – Child Language Test, the Phonological Abilities Profile, the Test of School Performance, and the Illinois Test of Psycholinguistic Abilities. Stomatognathic system and hearing assessments were also performed. It was observed: phonological, semantic, pragmatic and morphosyntactic deficits in oral language; deficits in psycholinguistic abilities (auditory reception, verbal expression, combination of sounds, auditory and visual sequential memory, auditory closure, auditory and visual association); and morphological and functional alterations in the stomatognathic system. Difficulties in decoding the graphical symbols were observed in reading. In writing, the subject presented omissions, agglutinations and multiple representations with the predominant use of vowels, besides difficulties in visuo-spatial organization. In mathematics, in spite of the numeric recognition, the participant didn’t accomplish arithmetic operations. No alterations were observed in the peripheral hearing evaluation. The constellation of behavioral, cognitive, linguistic and perceptual symptoms described for Fragile X syndrome, in addition to the structural central nervous alterations observed in the Dandy-Walker variant, caused outstanding interferences in the development of communicative abilities, in reading and writing learning, and in the individual’s social integration.
3. Leehey MA, Hagerman PJ. {{Fragile X-associated tremor/ataxia syndrome}}. {Handb Clin Neurol};2011;103:373-386.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an under-recognized disorder that is a significant cause of late-adult-onset ataxia. The etiology is expansion of a trinucleotide repeat to the premutation range (55-200 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene. Expansion to >200 CGGs causes fragile X syndrome, the most common heritable cause of cognitive impairment and autism. Core features of FXTAS include progressive action tremor and gait ataxia; with frequent, more variable features of cognitive decline, especially executive dysfunction, parkinsonism, neuropathy, and autonomic dysfunction. MR imaging shows generalized atrophy and frequently abnormal signal in the middle cerebellar peduncles. Autopsy reveals intranuclear inclusions in neurons and astrocytes and dystrophic white matter. FXTAS is likely due to an RNA toxic gain-of-function of the expanded-repeat mRNA. The disorder typically affects male premutation carriers over age 50, and, less often, females. Females also are at increased risk for primary ovarian insufficiency, chronic muscle pain, and thyroid disease. Treatment targets specific symptoms, but progression of disability is relentless. Although the contribution of FXTAS to the morbidity and mortality of the aging population requires further study, the disorder is likely the most common single-gene form of tremor and ataxia in the older adult population.
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4. Litten JP, Vaughan AG, Wildermuth CD. {{The fabric of engagement: the engagement and personality of managers and professionals in human and developmental disability services}}. {J Soc Work Disabil Rehabil};2011;10(3):189-210.
Employee engagement is a complex and dynamic process that reflects each individual’s unique, personal relationship with work. Engaged employees have a clear and defining connection to the organization’s mission and purpose, and employee engagement is reflected in behaviors that meet or exceed expectations of service in the workplace. The purpose of this study was to explore relationships between personality and engagement among professionals and managers providing services to people with developmental disabilities. In particular, the authors investigated relationships between the 5-factor model of personality (FFM) and William Kahn’s model of employee engagement encompassing physical, emotional, and cognitive components.
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5. Rodriguez-Escudero I, Oliver MD, Andres-Pons A, Molina M, Cid VJ, Pulido R. {{A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes}}. {Hum Mol Genet};2011 (Aug 9)
The PTEN phosphatase is unique in mammals in terms of its tumor suppressor activity, exerted by dephosphorylation of the lipid second messenger PIP(3), which activates the PI3K/Akt/mTOR oncogenic pathway. Loss-of-function mutations in the PTEN gene are frequent in human cancer and in the germ-line of patients with PTEN hamartoma tumor related syndromes (PHTS). In addition, PTEN is mutated in patients with autism spectrum disorders (ASD), although no functional information on these mutations is available. Here, we report a comprehensive in vivo functional analysis of human PTEN using a heterologous yeast reconstitution system. Ala-scanning mutagenesis at the catalytic loops of PTEN outlined the critical role of residues within the P-catalytic loop for PIP(3) phosphatase activity in vivo. PTEN mutations that mimic the catalytic P-loop of mammalian PTEN-like proteins (TPTE, TPIP, tensins and auxilins) affected PTEN function variably, whereas tumor- or PHTS-associated mutations targeting the PTEN P-loop produced complete loss-of-function. Conversely, Ala-substitutions, as well as tumor-related mutations at the WPD- and TI-catalytic loops, displayed partial activity in many cases. Interestingly, a tumor-related D92N mutation was partially active, supporting the notion that the PTEN Asp92 residue might not function as the catalytic general acid. The analysis of a panel of autism spectrum disorder (ASD)-associated hereditary PTEN mutations revealed that most of them did not substantially abrogate PTEN activity in vivo, whereas most of PHTS-associated mutations did. Our findings reveal distinctive functional patterns among PTEN mutations found in tumors and in the germ-line of PHTS and ASD patients, which could be relevant for therapy.
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6. Varanda CD, Fernandes FD. {{Syntactic awareness: probable correlations with central coherence and non-verbal intelligence in autism}}. {J Soc Bras Fonoaudiol};2011;23(2):142-151.
PURPOSE: To evaluate syntactic awareness, central coherence, non-verbal intelligence, social and communication development, interests and behavior of children with autistic spectrum disorders and to examine their probable correlations. METHODS: Participants were ten subjects diagnosed with autistic spectrum disorder, eight male and two female, with ages between 4 years e 9 months and 13 years and 4 months (mean age 9 years), who used oral language for communication. The following tests were used: Syntactic Awareness Test – Adapted (Prova de Consciencia Sintatica – Adaptada), Computerized jigsaw puzzles with picture and background and only with background; and Raven’s Coloured Progressive Matrices – Special Scale. Subjects’ parents answered the protocol Autism Diagnostic Interview – Revised (ADI-R). RESULTS: The children with autism presented syntactic awareness performance similar to that of 6-year-old children with typical development. Sixty percent of the subjects showed non-verbal intelligence at a superior or average level. There were no correlations between the performances in syntactic awareness and the other tested variables. CONCLUSION: There was no relationship between the performance in syntactic awareness and the results related to central coherence, non-verbal intelligence and social interaction deficits, difficulties in communication and restrict patterns interests of subjects with autism. The results suggest that these children seem to follow the development pattern of typically developing 6-year-old children in syntactic awareness abilities, only delayed.
7. Whitehouse AJ, Hickey M, Ronald A. {{Are Autistic Traits in the General Population Stable across Development?}}. {PLoS One};2011;6(8):e23029.
There is accumulating evidence that autistic traits (AT) are on a continuum in the general population, with clinical autism representing the extreme end of a quantitative distribution. While the nature and severity of symptoms in clinical autism are known to persist over time, no study has examined the long-term stability of AT among typically developing toddlers. The current investigation measured AT in 360 males and 400 males from the general population close to two decades apart, using the Pervasive Developmental Disorder subscale of the Child Behavior Checklist in early childhood (M = 2.14 years; SD = 0.15), and the Autism-Spectrum Quotient in early adulthood (M = 19.50 years; SD = 0.70). Items from each scale were further divided into social (difficulties with social interaction and communication) and non-social (restricted and repetitive behaviours and interests) AT. The association between child and adult measurements of AT as well the influence of potentially confounding sociodemographic, antenatal and obstetric variables were assessed using Pearson’s correlations and linear regression. For males, Total AT in early childhood were positively correlated with total AT (r = .16, p = .002) and social AT (r = .16, p = .002) in adulthood. There was also a positive correlation for males between social AT measured in early childhood and Total (r = .17, p = .001) and social AT (r = .16, p = .002) measured in adulthood. Correlations for non-social AT did not achieve significance in males. Furthermore, there was no significant longitudinal association in AT observed for males or females. Despite the constraints of using different measures and different raters at the two ages, this study found modest developmental stability of social AT from early childhood to adulthood in boys.
