1. {{The Clinician’s Guide to Autism: Correction}}. {Pediatr Rev};2014 (Mar);35(3):113.
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2. Doobay AF, Foley-Nicpon M, Ali SR, Assouline SG. {{Cognitive, Adaptive, and Psychosocial Differences Between High Ability Youth With and Without Autism Spectrum Disorder}}. {J Autism Dev Disord};2014 (Mar 2)
Research on Autism Spectrum Disorder (ASD) is thriving; however, scant empirical research has investigated how ASD manifests in high ability youth. Further research is necessary to accurately differentiate high ability students with ASD from those without the disorder, and thus decrease the risk of misdiagnosis. The purpose of the present study is to provide an empirical account of the intellectual, adaptive, and psychosocial functioning of high ability youth with and without ASD utilizing a group study design. Forty youth with high cognitive ability and ASD and a control group of 41 youth with high cognitive ability and no psychological diagnosis were included in the study. In comparison to the control group, the ASD group showed poorer functioning on measures of processing speed, adaptive skills, and broad psychological functioning, as perceived by parents and teachers. These findings have significant implications for diagnosing ASD among those with high ability, and the development of related psychological and educational interventions to address talent domains and areas of concern.
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3. Filipe MG, Frota S, Castro SL, Vicente SG. {{Atypical Prosody in Asperger Syndrome: Perceptual and Acoustic Measurements}}. {J Autism Dev Disord};2014 (Mar 4)
It is known that individuals with Asperger syndrome (AS) may show no problems with regard to what is said (e.g., lexical content) but tend to have difficulties in how utterances are produced, i.e., they may show prosodic impairments. In the present study, we focus on the use of prosodic features to express grammatical meaning. Specifically, we explored the sentence type difference between statements and questions that is conveyed by intonation, using perceptual and acoustic measurements. Children aged 8 and 9 years with AS (n = 12) were matched according to age and nonverbal intelligence with typically developing peers (n = 17). Although children with AS could produce categorically accurate prosodic patterns, their prosodic contours were perceived as odd by adult listeners, and acoustic measurements showed alterations in duration and pitch. Additionally, children with AS had greater variability in fundamental frequency contours compared to typically developing peers.
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4. Grandgeorge M, Bourreau Y, Alavi Z, Lemonnier E, Tordjman S, Deleau M, Hausberger M. {{Interest towards human, animal and object in children with autism spectrum disorders: an ethological approach at home}}. {Eur Child Adolesc Psychiatry};2014 (Mar 4)
Autistic spectrum disorders (ASD) are characterised by attention deficits in communication and social interactions and a lack of interest in people. Data are mostly based on clinical situations. However, recent studies have shown a more mixed situation where children with ASD (ASD children) displayed interest towards humans, in both experimental and natural settings. The aim of this study was to assess the interest of ASD children in a natural standardised home setting. Here, we hypothesised that ASD children would display more interest towards animate stimuli-human and pet-when in the child’s home than in the lab experimental setting. We used an ethological approach involving observations, a methodological alternative to lab static techniques, to investigate the behaviour of ninety 6- to 12-year-old ASD and typical development (TD) children. Our results were consistent with those of the literature revealing that the ASD children displayed interest towards animate stimuli as did children with TD children. Interestingly, while the ASD children showed higher interest towards humans, e.g. their parent, than the TD children did, they showed less interest towards pet compared to the TD children. Our results suggested that animals are not inherently easy to decode for ASD children, in contrast with previous experiences where a pet was regarded as a more attractive partner, easier to be understood. At last, the ASD children changed more frequently their focus point than the TD children did. These differences may be explained by the reduced attention skills in ASD or the study’s context. To conclude, larger exploratory studies in natural settings conducted beyond ordinary human to human interactions are crucial for better understanding of the underlying mechanisms involved in social interactions in ASD.
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5. Hus V, Lord C. {{The Autism Diagnostic Observation Schedule, Module 4: Revised Algorithm and Standardized Severity Scores}}. {J Autism Dev Disord};2014 (Mar 4)
The recently published Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2) includes revised diagnostic algorithms and standardized severity scores for modules used to assess younger children. A revised algorithm and severity scores are not yet available for Module 4, used with verbally fluent adults. The current study revises the Module 4 algorithm and calibrates raw overall and domain totals to provide metrics of autism spectrum disorder (ASD) symptom severity. Sensitivity and specificity of the revised Module 4 algorithm exceeded 80 % in the overall sample. Module 4 calibrated severity scores provide quantitative estimates of ASD symptom severity that are relatively independent of participant characteristics. These efforts increase comparability of ADOS scores across modules and should facilitate efforts to examine symptom trajectories from toddler to adulthood.
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6. Little LM, Sideris J, Ausderau K, Baranek GT. {{Activity participation among children with autism spectrum disorder}}. {Am J Occup Ther};2014 (Mar-Apr);68(2):177-185.
OBJECTIVE. The purpose of this study was to empirically derive dimensions of activity participation among a sample of school-age children with autism spectrum disorder (ASD; n = 713). Additionally, we examined the associations between dimensions of activity participation and child characteristics (i.e., chronological age, autism severity, gender) and family demographics (i.e., maternal education). METHOD. Exploratory factor analysis was used to determine the factors on the Home and Community Activities Scale (HCAS). Multiple regression was used to examine the extent to which child characteristics and family demographics were related to HCAS dimensions. RESULTS. A six-factor model best characterized activity participation among the school-age children with ASD, and child characteristics and family demographics were differentially associated with HCAS dimensions. CONCLUSION. The findings have implications for how activities may be categorized for children with ASD and suggest that the frequency of specific activities is affected by child characteristics and maternal education.
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7. Marchese M, Conti V, Valvo G, Moro F, Muratori F, Tancredi R, Santorelli FM, Guerrini R, Sicca F. {{Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening}}. {BMC Med Genet};2014;15(1):26.
BACKGROUND: With a complex and extremely high clinical and genetic heterogeneity, autism spectrum disorders (ASD) are better dissected if one takes into account specific endophenotypes. Comorbidity of ASD with epilepsy (or paroxysmal EEG) has long been described and seems to have strong genetic background. Macrocephaly also represents a well-known endophenotype in subgroups of ASD individuals, which suggests pathogenic mechanisms accelerating brain growth in early development and predisposing to the disorder. We attempted to estimate the association of gene variants with neurodevelopmental disorders in patients with autism-epilepsy phenotype (AEP) and cranial overgrowth, analyzing two genes previously reported to be associated with autism and macrocephaly. METHODS: We analyzed the coding sequences and exon-intron boundaries of GLIALCAM, encoding an IgG-like cell adhesion protein, in 81 individuals with Autism Spectrum Disorders, either with or without comorbid epilepsy, paroxysmal EEG and/or macrocephaly, and the PTEN gene in the subsample with macrocephaly. RESULTS: Among 81 individuals with ASD, 31 had concurrent macrocephaly. Head circumference, moreover, was over the 99.7th percentile (« extreme » macrocephaly) in 6/31 (19%) patients. Whilst we detected in GLIALCAM several single nucleotide variants without clear pathogenic effects, we found a novel PTEN heterozygous frameshift mutation in one case with « extreme » macrocephaly, autism, intellectual disability and seizures. CONCLUSIONS: We did not find a clear association between GLIALCAM mutations and AEP-macrocephaly comorbidity. The identification of a novel frameshift variant of PTEN in a patient with « extreme » macrocephaly, autism, intellectual disability and seizures, confirms this gene as a major candidate in the ASD-macrocephaly endophenotype. The concurrence of epilepsy in the same patient also suggests that PTEN, and the downstream signaling pathway, might deserve to be investigated in autism-epilepsy comorbidity. Working on clinical endophenotypes might be of help to address genetic studies and establish actual causative correlations in autism-epilepsy.
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8. Mila M, Ramos F, Tejada MI. {{[Clinical guideline of gene FMR1-associated diseases: fragile X syndrome, primary ovarian insufficiency and tremor-ataxia syndrome]}}. {Med Clin (Barc)};2014 (Mar 4);142(5):219-225.
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9. Quest KM, Byiers BJ, Payen A, Symons FJ. {{Rett syndrome: A preliminary analysis of stereotypy, stress, and negative affect}}. {Res Dev Disabil};2014 (Feb 25)
Rett syndrome (RTT) is a neurodevelopmental disorder primarily affecting females. It is characterized by apparently normative development of motor and communicative abilities followed by deterioration in these domains. Stereotypic hand movements are one of the core diagnostic criteria for RTT. There is some anecdotal but limited scientific evidence that changes in hand stereotypy may be a sign of increased anxiety or arousal (i.e., a ‘stress response’) in RTT. Understanding stress responsivity is difficult in RTT because almost all individuals are nonverbal or otherwise severely communicatively impaired. This study used direct behavioral observation to quantify and compare the frequency of hand stereotypy and signs of negative affect during presumed periods of high and low stress associated with functional analysis conditions (negative reinforcement [‘escape’] and control [‘free play’], respectively) for 5 females with RTT (mean age=17.8; range 4-47). Negative affect was more likely to occur during negative reinforcement (‘stress’) conditions for each participant whereas hand stereotypies did not differ across conditions for any of the participants. Although preliminary, the results suggest that hand stereotypy may not be a valid behavioral ‘stress-response’ indicator in females with RTT. Alternatively, the approach we used may have been limited and not sufficient to evoke a stress response. Either way, more work with direct relevance to improving our understanding of hand stereotypy and anxiety in RTT in relation to social context appears warranted.
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10. Radell ML, Mercado E, 3rd. {{Modeling possible effects of atypical cerebellar processing on eyeblink conditioning in autism}}. {Cogn Affect Behav Neurosci};2014 (Mar 4)
Autism is unique among other disorders in that acquisition of conditioned eyeblink responses is enhanced in children, occurring in a fraction of the trials required for control participants. The timing of learned responses is, however, atypical. Two animal models of autism display a similar phenotype. Researchers have hypothesized that these differences in conditioning reflect cerebellar abnormalities. The present study used computer simulations of the cerebellar cortex, including inhibition by the molecular layer interneurons, to more closely examine whether atypical cerebellar processing can account for faster conditioning in individuals with autism. In particular, the effects of inhibitory levels on delay eyeblink conditioning were simulated, as were the effects of learning-related synaptic changes at either parallel fibers or ascending branch synapses from granule cells to Purkinje cells. Results from these simulations predict that whether molecular layer inhibition results in an enhancement or an impairment of acquisition, or changes in timing, may depend on (1) the sources of inhibition, (2) the levels of inhibition, and (3) the locations of learning-related changes (parallel vs. ascending branch synapses). Overall, the simulations predict that a disruption in the balance or an overall increase of inhibition within the cerebellar cortex may contribute to atypical eyeblink conditioning in children with autism and in animal models of autism.
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11. Raja M. {{Did Mozart suffer from Asperger syndrome?}}. {J Med Biogr};2013 (Sep 27)
The most reliable biographies of Mozart highlight elements that are compatible with current diagnostic criteria for Asperger syndrome including qualitative impairment in social interaction and stereotyped and repetitive motor mannerisms. Furthermore, numerous features are documented including difficulty in communicating his emotional state and in inferring the mental state of his interlocutors, motor clumsiness, specific skills and genius, left-handedness, special sense of humour, physical developmental abnormalities, bizarre thinking, overvalued ideas and delusions.
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12. Ranft P. {{Ruminations on Hildegard of Bingen (1098-1179) and autism}}. {J Med Biogr};2013 (Jul 29)
The article brings together contemporary research on autism spectrum disorder and historical sources concerning the medical condition of a 12th century nun, Hildegard of Bingen, to test two hypotheses: first, that Hildegard manifested disabilities that meet the criteria for autism spectrum disorder and, second, that medieval monasticism was unwittingly well-suited to treat Hildegard’s condition. Abundant Hildegardian sources document traces of autism spectrum disorder behaviour in Hildegard’s unusual childhood and the composite picture that emerges, when these individual traits are gathered together, is consistent with an autism spectrum disorder diagnosis. The role monasticism played in helping Hildegard overcome these behaviours is documented and aspects that monasticism shares with modern autism spectrum disorder treatment programs are identified. By recognizing the presence of autism spectrum disorder traits in a major cultural leader of another era and by identifying the type of life she lived while those traits were minimized, we gain insight into the history of autism, medieval monastic life and effective elements of autism spectrum disorder treatment.
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13. Roy A, Roy M, Deb S, Unwin G. {{Are opioid antagonists effective in attenuating the core symptoms of autism spectrum conditions in children: a systematic review}}. {J Intellect Disabil Res};2014 (Mar 4)
BACKGROUND: ASC (autism spectrum conditions) may result from a failure of striatal beta endorphins to diminish with maturation. Many symptoms of ASC resemble behaviours induced in animals or humans by opiate administration, including decreased socialisation, diminished crying, repetitive stereotypies, insensitivity to pain and motor hyperactivity. Naltrexone, an opioid antagonist, has been used in the management of children with ASC and can produce a clinically significant reduction in the serious and life-threatening behaviour of self-injury for individuals who have not been responsive to any other type of treatment and is important for this reason. It was therefore appropriate to reconsider the available evidence and a systematic review was undertaken. METHODS: Four electronic databases were searched for relevant journal articles. In addition, cross-referencing of pertinent reviews and a hand search for articles in major international intellectual disability (ID) journals between the years 2010 and 2012 was carried out to ensure that all relevant articles were identified. We also searched databases for unpublished clinical trials to overcome publication bias. Each database was searched up to present (February 2013) with no restrictions on the date of publication. The search terms consisted of broad expressions used to describe ID and autistic spectrum disorder as well as terms relating to opioid antagonists and specific drugs. All studies identified by the electronic database search and hand search were examined on the basis of title alone for relevance and duplication. The abstracts of the remaining papers were then scrutinised against the inclusion criteria. Where abstracts failed to provide adequate information, the full texts for these papers were obtained. All the full texts were then evaluated against the inclusion proforma. Two reviewers carried out all the stages of the process independently. The reviewers met to discuss their selections and where disagreements arose, these were settled by discussion with a member of the study group. Data from each study meeting the inclusion criteria were extracted on a pre-piloted data extraction form. The quality of each study was further assessed using the Jadad scale, a tool developed to assess the quality of randomised controlled trials. RESULTS: 155 children participated in 10 studies; 27 received placebo. Of the 128 that received naltrexone 98 (77%) showed statistically significant improvement in symptoms of irritability and hyperactivity. Side effects were mild and the drug was generally well tolerated. CONCLUSIONS: Naltrexone may improve hyperactivity and restlessness in children with autism but there was not sufficient evidence that it had an impact on core features of autism in majority of the participants. It is likely that a subgroup of children with autism and abnormal endorphin levels may respond to naltrexone and identifying the characteristics of these children must become a priority.
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14. Rumsey RK, Rudser K, Delaney K, Potegal M, Whitley CB, Shapiro E. {{Acquired Autistic Behaviors in Children with Mucopolysaccharidosis Type IIIA}}. {J Pediatr};2014 (Feb 25)
OBJECTIVES: To assess autism spectrum disorder (ASD) behaviors in children with mucopolysaccharidosis type IIIA (MPS IIIA) using a standard measure, understand the behavioral evolution of the disease, and provide specific guidelines for diagnosis. STUDY DESIGN: Children (n = 21) with documented enzyme deficiency and SGSH gene mutations, cognitive age-equivalent >12 months, and early onset were administered the Autism Diagnostic Observation Schedule (ADOS) (module 1) and Bayley Scales of Infant Development-Third Edition. ADOS Social Affect and Restricted Repetitive Behavior total scores, as well as Bayley Scales of Infant Development-Third Edition cognitive age-equivalent scores, are reported using descriptive statistics and graphic presentations. RESULTS: Thirteen of the 21 children evaluated met the ADOS criteria for ASD/autism. ADOS score was strongly associated with age; all 11 children aged >46 months met the criteria, compared with only 2 of 10 aged <46 months. Social and affective abnormalities were most frequent; restricted interests and repetitive behaviors were largely absent. Lack of cognitive growth paralleled ADOS score. CONCLUSION: An increased incidence of ASD-like social behaviors was seen at age 3-4 years in children with early-onset MPS IIIA. Although more frequent in the severely impaired children, ASD-like behaviors were observed across the entire range of cognitive impairment. Clinicians must be aware that when a child acquires ASD-like behaviors, MPS IIIA should be included in the differential diagnosis.
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15. Skefos J, Cummings C, Enzer K, Holiday J, Weed K, Levy E, Yuce T, Kemper T, Bauman M. {{Regional alterations in purkinje cell density in patients with autism}}. {PLoS One};2014;9(2):e81255.
Neuropathological studies, using a variety of techniques, have reported a decrease in Purkinje cell (PC) density in the cerebellum in autism. We have used a systematic sampling technique that significantly reduces experimenter bias and variance to estimate PC densities in the postmortem brains of eight clinically well-documented individuals with autism, and eight age- and gender-matched controls. Four cerebellar regions were analyzed: a sensorimotor area comprised of hemispheric lobules IV-VI, crus I & II of the posterior lobe, and lobule X of the flocculonodular lobe. Overall PC density was thus estimated using data from all three cerebellar lobes and was found to be lower in the cases with autism as compared to controls, an effect that was most prominent in crus I and II (p<0.05). Lobule X demonstrated a trend towards lower PC density in only the males with autism (p = 0.05). Brain weight, a correlate of tissue volume, was found to significantly contribute to the lower lobule X PC density observed in males with autism, but not to the finding of lower PC density in crus I & II. Therefore, lower crus I & II PC density in autism is more likely due to a lower number of PCs. The PC density in lobule X was found to correlate with the ADI-R measure of the patient’s use of social eye contact (R(2) = -0.75, p = 0.012). These findings support the hypothesis that abnormal PC density may contribute to selected clinical features of the autism phenotype.
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16. Strickland AD. {{Prevention of cerebral palsy, autism spectrum disorder, and attention deficit – Hyperactivity disorder}}. {Med Hypotheses};2014 (Feb 12)
This hypothesis states that cerebral palsy (CP), autism spectrum disorder (ASD), and attention-deficit/hyperactivity disorder (ADHD) are all caused by an exaggerated central nervous system inflammatory response to a prenatal insult. This prenatal insult may be one or more episodes of ischemia-reperfusion, an infectious disease of the mother or the fetus, or other causes of maternal inflammation such as allergy or autoimmune disease. The resultant fetal inflammatory hyper-response injures susceptible neurons in the developing white matter of the brain in specific areas at specific gestational ages. The exaggerated neuroinflammatory response is theorized to occur between about 19 and 34 post-conception weeks for CP, about 32 and 40weeks for ADHD, and about 36 and 48weeks (i.e. 2months after delivery) for ASD. The exaggerated inflammatory response is hypothesized to occur because present diets limit intake of effective antioxidants and omega-3 polyunsaturated fatty acids while increasing intake of omega-6 polyunsaturated fatty acids. Oxidation products of the omega-3 fatty acids docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA) limit neuroinflammation while oxidation products of the omega-6 fatty acid arachidonic acid exacerbate inflammation. Preventative treatment should begin in all pregnant women during the first trimester and should include both DHA and an effective antioxidant for prevention of neuroinflammation. The suggested antioxidant would be N-acetylcysteine, though melatonin could be chosen instead. Combined DHA and NAC therapy is theorized to decrease the incidence of the three disorders by more than 75%.
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17. Yang CJ, Tan HP, Du YJ. {{The developmental disruptions of serotonin signaling may involved in the autism during early brain development}}. {Neuroscience};2014 (Feb 26)
Autism is a developmental disorder defined by the presence of a triad of communication, social and stereo typical behavioral characteristics with onset before 3 years of age. In spite of the fact that there are potential environmental factors for autistic behavior, the dysfunction of serotonin during early development of brain could be playing a role in this prevalence rise. Serotonin can modulate a number of developmental events, including cell division, neuronal migration, cell differentiation and synaptogenesis. Hyperserotonemia during fetal development results in the loss of serotonin terminals through negative feedback. The increased serotonin causes a decreased of oxytocin in the paraventricular nucleus of the hypothalamus and an increase in calcitonin gene-related peptide (CGRP) in the central nucleus of the amygdale, which are associated with social interactions and vital in autism. However, hyposerotonemia may be also relevant to the development of sensory as well as motor and cognitive faculties. And the paucity of placenta-derived serotonin should have potential importance when the pathogenesis of autism is considered. This review briefly summarized the developmental disruptions of serotonin signaling involved in the pathogenesis of autism during early development of brain.
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18. Zablotsky B, Kalb LG, Freedman B, Vasa R, Stuart EA. {{Health care experiences and perceived financial impact among families of children with an autism spectrum disorder}}. {Psychiatr Serv};2014 (Mar 1);65(3):395-398.
OBJECTIVE The authors compared the health care experiences of families raising a child with autism spectrum disorder (ASD), an intellectual disability disorder (IDD), or attention-deficit hyperactivity disorder (ADHD). METHODS Children with a current diagnosis of ASD (N=3,005), ADHD (N=9,662), or IDD (N=949) were identified in the 2009-2010 National Survey of Children With Special Health Care Needs. Weighted structural equation modeling was used to determine the association between family satisfaction with medical care, timeliness of care, and medical insurance coverage and the impact of the child’s condition on the family’s financial situation. RESULTS Families of children diagnosed as having ASD comorbid with either ADHD or IDD or comorbid with both conditions reported the highest levels of dissatisfaction across all health care quality variables and experienced the greatest impact on the family’s financial situation. CONCLUSIONS The findings underscore the need for comprehensive and accessible health care services for children with ASD, particularly those with comorbid conditions.
