1. Anderson T, Buterbaugh A, Love K, Visootsak J. {{A Male with Cooccurrence of Down Syndrome and Fragile X Syndrome}}. {Case Rep Genet};2013;2013:504695.
Down syndrome is the most common identifiable genetic cause of intellectual disability, with a unique physical gestalt that makes diagnosis possible during the newborn period. However, the physical characteristics of Fragile X syndrome are fairly subtle, resulting in the first clinical suspicion often arising from delayed developmental milestones. In addition, maladaptive behavior and autistic-like tendencies, such as hand flapping, poor eye contact, and hand biting, may be noted in Fragile X syndrome but are not as commonly observed in Down syndrome. Recognition of a potential secondary diagnosis, such as Fragile X syndrome, in individuals with Down syndrome is critical because there have been advances in targeted pharmacologic treatments for both conditions. Thus, an accurate diagnosis has implications in improving the individual’s quality of life.
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2. Biscaldi M, Rauh R, Irion L, Jung NH, Mall V, Fleischhaker C, Klein C. {{Deficits in motor abilities and developmental fractionation of imitation performance in high-functioning autism spectrum disorders}}. {Eur Child Adolesc Psychiatry};2013 (Oct 2)
The co-occurrence of motor and imitation disabilities often characterises the spectrum of deficits seen in patients with autism spectrum disorders (ASD). Whether these seemingly separate deficits are inter-related and whether, in particular, motor deficits contribute to the expression of imitation deficits is the topic of the present study and was investigated by comparing these deficits’ cross-sectional developmental trajectories. To that end, different components of motor performance assessed in the Zurich Neuromotor Assessment and imitation abilities for facial movements and non-meaningful gestures were tested in 70 subjects (aged 6-29 years), including 36 patients with high-functioning ASD and 34 age-matched typically developed (TD) participants. The results show robust deficits in probands with ASD in timed motor performance and in the quality of movement, which are all independent of age, with one exception. Only diadochokinesis improves moderately with increasing age in ASD probands. Imitation of facial movements and of non-meaningful hand, finger, hand finger gestures not related to social context or tool use is also impaired in ASD subjects, but in contrast to motor performance this deficit overall improves with age. A general imitation factor, extracted from the highly inter-correlated imitation tests, is differentially correlated with components of neuromotor performance in ASD and TD participants. By developmentally fractionating developmentally stable motor deficits from developmentally dynamic imitation deficits, we infer that imitation deficits are primarily cognitive in nature.
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3. Bolton S, McDonald D, Curtis E, Kelly S, Gallagher L. {{Autism in a recently arrived immigrant population}}. {Eur J Pediatr};2013 (Oct 2)
This study aims to establish whether children of an immigrant maternal population presented with a higher rate of autism than the indigenous population and to explore their presentation with regard to severity of symptoms, demographics and ethnicity. It is a retrospective case note analysis of 366 children who presented to the paediatric developmental service in the Adelaide and Meath incorporating the National Children’s Hospital, Tallaght, Ireland between 2007 and 2009. During the study period, 366 children presented. Fifty-eight children (16 %) had mothers who were born in Africa and 53 (14 %) were born to mothers originating from a wider variety of countries. Two hundred and forty-eight children (68 %) had mothers born in Ireland. Maternal origin was not identified for seven children (2 %). An autistic spectrum disorder (ASD) was diagnosed in 131 children and speech and language delay in 132. Of the children with an ASD diagnosis, a higher proportion of the African cohort 13/18 (72.2 %) presented with moderate/severe cognitive disability compared to the Irish group 9/55(16.3 %), and the children in the African cohort showed a higher heritability with 36.9 % having a positive family history of autism reported compared to 26.3 % of the Irish cohort with an ASD diagnosis. Conclusion: This study highlights an observation of increased rates of ASD among a migrant population derived particularly from children born to mothers originating in Sub-Saharan Africa. This cohort is more severely affected. Further validation in an epidemiological sample is warranted, which if replicated, may help to identify possible aetiological risk factors.
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4. Celle ME, Cuoco C, Porta S, Gimelli G, Tassano E. {{Interstitial 2q24.3 Deletion Including SCN2A and SCN3A Genes in a Patient with Autistic Features, Psychomotor Delay, Microcephaly and no History of Seizures}}. {Gene};2013 (Sep 27)
Mutations in neuronal voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A may play an important role in the etiology of neurological diseases and psychiatric disorders, besides various types of epilepsy. Here we describe a 3-year-old boy with autistic features, language delay, microcephaly and no history of seizures. Array-CGH analysis revealed an interstitial deletion of ~291.9 Kb at band 2q24.3 disrupting the entire SCN2A gene and part of SCN3A. We discuss the effects of haploinsufficiency of SCN2A and SCN3A on the genetic basis of neurodevelopmental and neurobehavioral disorders and we propose that this haploinsufficiency may be associated not only with epilepsy, but also with autistic features.
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5. Duerden EG, Taylor MJ, Soorya LV, Wang T, Fan J, Anagnostou E. {{Neural correlates of inhibition of socially relevant stimuli in adults with autism spectrum disorder}}. {Brain Res};2013 (Oct 2);1533:80-90.
Adults with autism spectrum disorder (ASD) can demonstrate difficulties with inhibiting inappropriate social responses. Presently, little research has utilized socially relevant stimuli to explore the modulatory effects of emotion on cognitive control in this population. To assess neural mechanisms of inhibiting social stimuli, we presented images of happy or sad facial expressions in a Go/NoGo task to unmedicated adults with ASD and to controls during functional magnetic resonance imaging (fMRI). Groups did not differ on behavioral measures. Brain activation in response to NoGo vs. Go trials revealed differing regional patterns of activation within groups. Controls recruited brain regions involved in inhibition (dorsal- [DLPFC] and ventro-lateral prefrontal cortices [VLPFC], anterior cingulate cortex [ACC]), response suppression (parietal lobe), interoceptive awareness (insula), and also the fusiform and middle temporal gyri. Adults with ASD only recruited the VLPFC and right fusiform gyrus, and weakly activated the ACC and insula. Between-group comparisons indicated that controls activated the DLPFC, while adults with ASD relied on the VLPFC and the fusiform gyrus to inhibit responses. Adults with ASD may have relied more on visual association cortex, possibly as a means of recruiting additional neural processes that could act as a compensatory mechanism.
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6. Ghosh A, Michalon A, Lindemann L, Fontoura P, Santarelli L. {{Drug discovery for autism spectrum disorder: challenges and opportunities}}. {Nat Rev Drug Discov};2013 (Oct 1);12(10):777-790.
The rising rates of autism spectrum disorder (ASD) and the lack of effective medications to treat its core symptoms have led to an increased sense of urgency to identify therapies for this group of neurodevelopmental conditions. Developing drugs for ASD, however, has been challenging because of a limited understanding of its pathophysiology, difficulties in modelling the disease in vitro and in vivo, the heterogeneity of symptoms, and the dearth of prior experience in clinical development. In the past few years these challenges have been mitigated by considerable advances in our understanding of forms of ASD caused by single-gene alterations, such as fragile X syndrome and tuberous sclerosis. In these cases we have gained insights into the pathophysiological mechanisms underlying these conditions. In addition, they have aided in the development of animal models and compounds with the potential for disease modification in clinical development. Moreover, genetic studies are illuminating the molecular pathophysiology of ASD, and new tools such as induced pluripotent stem cells offer novel possibilities for drug screening and disease diagnostics. Finally, large-scale collaborations between academia and industry are starting to address some of the key barriers to developing drugs for ASD. Here, we propose a conceptual framework for drug discovery in ASD encompassing target identification, drug profiling and considerations for clinical trials in this novel area.
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7. Hermann I, Haser V, van Elst LT, Ebert D, Muller-Feldmeth D, Riedel A, Konieczny L. {{Automatic metaphor processing in adults with Asperger syndrome: a metaphor interference effect task}}. {Eur Arch Psychiatry Clin Neurosci};2013 (Oct 1)
This paper investigates automatic processing of novel metaphors in adults with Asperger Syndrome (AS) and typically developing controls. We present an experiment combining a semantic judgment task and a recognition task. Four types of sentences were compared: Literally true high-typical sentences, literally true low-typical sentences, apt metaphors, and scrambled metaphors (literally false sentences which are not readily interpretable as metaphors). Participants were asked to make rapid decisions about the literal truth of such sentences. The results revealed that AS and control participants showed significantly slower RTs for metaphors than for scrambled metaphors and made more mistakes in apt metaphoric sentences than in scrambled metaphors. At the same time, there was higher recognition of apt metaphors compared with scrambled metaphors. The findings indicate intact automatic metaphor processing in AS and replicate previous findings on automatic metaphor processing in typically developing individuals.
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8. Lee J. {{Maternal stress, well-being, and impaired sleep in mothers of children with developmental disabilities: A literature review}}. {Res Dev Disabil};2013 (Sep 27);34(11):4255-4273.
Having children with developmental disabilities (DDs) requires a high level of caregiving responsibilities, and existing studies support that mothers of children with DDs experience high levels of maternal stress as well as poor sleep and well-being. Given the fact that the number of children with DDs has increased, an up-to-date literature review is necessary to identify factors associated with maternal stress, sleep, and well-being. In addition, understanding these factors and their relationships may provide better strategies in designing effective interventions that can reduce the burden in mothers of children with DDs. This review summarized 28 scientific research papers that examined maternal stress, sleep, and well-being in mothers of children with DDs in past 12 years. The study findings indicate that mothers of children with DDs experience higher levels of stress than mothers of typically developing children, and it remains high over time. In addition, these mothers often encounter depressive symptoms as well as poor sleep quality. The study results also reveal that there is a bidirectional relationship between maternal stress and depressive symptoms as well as between poor sleep quality and depressive symptoms. For example, higher stress mothers experienced more depressive symptoms. Mothers of children with DDs with poor sleep quality are significantly associated with more depressive symptoms. Child behavior problems were significantly associated with both maternal stress and depressive symptoms, but cautious interpretation is warranted due to the shared variance between child behavior problems, maternal stress, and depressive symptoms. Methodological guidelines for future research involve the use of reliable and valid instruments for the measurement of child behavior problems, maternal stress, and sleep. Recommendations for future research are included.
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9. Semansky RM, Xie M, Lawer LJ, Mandell DS. {{How States Use Medicaid to Fund Community-Based Services to Children With Autism Spectrum Disorders}}. {Psychiatr Serv};2013 (Oct 1);64(10):1051-1055.
OBJECTIVE This study examined the extent to which state Medicaid agencies funded 16 services for children with autism spectrum disorders: individual therapy, physical and occupational therapy, in-home supports, speech therapy, diagnostic assessment, behavior modification, family therapy, case management, targeted case management, respite, day treatment, social skills training, habilitation services, treatment planning, family education and training, and assistive communication devices. METHODS Procedure codes in the Medicaid Analytic eXtract (MAX) « other therapies » file were used to identify community-based services commonly delivered to children with a diagnosis of a primary autism spectrum disorder. RESULTS Four services are commonly used to address the core deficits of these disorders: physical and occupational therapy, speech therapy, behavior modification, and social skills training. Only six states funded all four services. CONCLUSIONS States varied considerably in use of Medicaid to reimburse these services, indicating that some states may have opportunities to receive federal matching funds.
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10. Waltereit R, Banaschewski T, Meyer-Lindenberg A, Poustka L. {{Interaction of neurodevelopmental pathways and synaptic plasticity in mental retardation, autism spectrum disorder and schizophrenia: Implications for psychiatry}}. {World J Biol Psychiatry};2013 (Sep 30)
Objectives. Schizophrenia (SCZ), autism spectrum disorder (ASD) and mental retardation (MR) are psychiatric disorders with high heritability. They differ in their clinical presentation and in their time course of major symptoms, which predominantly occurs for MR and ASD during childhood and for SCZ during young adult age. Recent findings with focus on the developmental neurobiology of these disorders emphasize shared mechanisms of common origin. These findings propose a continuum of genetic risk factors impacting on synaptic plasticity with MR causing impairments in global cognitive abilities, ASD in social cognition and SCZ in both global and social cognition. Methods. We assess here the historical developments that led to the current disease concepts of the three disorders. We then analyse, based on the functions of genes mutated in two or three of the disorders, selected mechanisms shared in neurodevelopmental pathways and synaptic plasticity. Results. The analysis of the psychopathological constructs supports the existence of three distinct clinical entities but also elaborates important associations. Similarly, there are common mechanisms especially in global and social cognition. Conclusions. We discuss implications from this integrated view on MR, ASD and SCZ for child & adolescent and adult psychiatry in pathophysiology and research perspectives.
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11. Westman Andersson G, Miniscalco C, Gillberg C. {{Autism in Preschoolers: Does Individual Clinician’s First Visit Diagnosis Agree with Final Comprehensive Diagnosis?}}. {ScientificWorldJournal};2013;2013:716267.
Comprehensive clinical diagnosis based on all available information is considered the « gold standard » in autism spectrum disorders (ASD). We examined agreement across independent assessments (clinical judgment) of 34 young children (age 24-46 months) with suspected ASD, assessed by a multidisciplinary team, and final comprehensive clinical diagnosis. Agreement across settings and between each clinician’s assessment and final diagnosis was moderate. The poorest fit was found at assessment in connection with psychological evaluation and the best with preschool observation and parent interview. Some individual clinicians had good and others had poor fit with final diagnosis. Disagreement across assessments was pronounced for girls. The findings suggest that multidisciplinary assessments remain important and that comprehensive clinical diagnosis should still be regarded as the gold standard in ASD.
