1. Aagten-Murphy D, Attucci C, Daniel N, Klaric E, Burr D, Pellicano E. {{Numerical estimation in children with autism}}. {Autism Res};2015 (Mar 25)
Number skills are often reported anecdotally and in the mass media as a relative strength for individuals with autism, yet there are remarkably few research studies addressing this issue. This study, therefore, sought to examine autistic children’s number estimation skills and whether variation in these skills can explain at least in part strengths and weaknesses in children’s mathematical achievement. Thirty-two cognitively able children with autism (range = 8-13 years) and 32 typical children of similar age and ability were administered a standardized test of mathematical achievement and two estimation tasks, one psychophysical nonsymbolic estimation (numerosity discrimination) task and one symbolic estimation (numberline) task. Children with autism performed worse than typical children on the numerosity task, on the numberline task, which required mapping numerical values onto space, and on the test of mathematical achievement. These findings question the widespread belief that mathematical skills are generally enhanced in autism. For both groups of children, variation in performance on the numberline task was also uniquely related to their academic achievement, over and above variation in intellectual ability; better number-to-space mapping skills went hand-in-hand with better arithmetic skills. Future research should further determine the extent and underlying causes of some autistic children’s difficulties with regards to number. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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2. Alaerts K, Nayar K, Kelly C, Raithel J, Milham MP, Di Martino A. {{Age-Related Changes in Intrinsic Function of the Superior Temporal Sulcus in Autism Spectrum Disorders}}. {Soc Cogn Affect Neurosci};2015 (Mar 25)
Currently, the developmental trajectories of neural circuits implicated in autism spectrum disorders (ASD) are largely unknown. Here, we specifically focused on age-related changes in the functional circuitry of the posterior superior temporal sulcus (pSTS), a key hub underlying social-cognitive processes known to be impaired in ASD. Using a cross-sectional approach, we analyzed resting-state fMRI data collected from children, adolescents, and adults available through the Autism Brain Imaging Data Exchange repository (n=106 with ASD and n=109 typical controls [TC], ages 7-30 years). The observed age-related changes of pSTS intrinsic functional connectivity (iFC) suggest that no single developmental pattern characterizes ASD. Instead, pSTS circuitry displayed a complex developmental picture, with some functional circuits showing patterns consistent with atypical development in ASD relative to TC (pSTS-iFC with fusiform gyrus and angular gyrus) and others showing delayed maturation (pSTS-iFC with regions of the action perception network). Distinct developmental trajectories in different functional circuits in ASD likely reflect differential age-related changes in the socio-cognitive processes they underlie. Increasing insight on these mechanisms is a critical step in the development of age-specific interventions in ASD.
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3. Bresnahan M, Hornig M, Schultz AF, Gunnes N, Hirtz D, Lie KK, Magnus P, Reichborn-Kjennerud T, Roth C, Schjolberg S, Stoltenberg C, Suren P, Susser E, Lipkin WI. {{Association of Maternal Report of Infant and Toddler Gastrointestinal Symptoms With Autism: Evidence From a Prospective Birth Cohort}}. {JAMA Psychiatry};2015 (Mar 25)
Importance: Gastrointestinal (GI) comorbidities are frequently described in association with autism spectrum disorder (ASD). However, the prevalence of GI disturbances and the age at which such problems first appear are unclear, and their specificity for ASD compared with other neurodevelopmental disorders is uncertain. Objective: To compare maternal report of GI symptoms during the first 3 years of life in children with ASD, developmental delay (DD), and typical development (TD). Design, Setting, and Participants: This large prospective cohort study consists of participants in the Norwegian Mother and Child Cohort Study. During a 10-year period (January 1, 1999, through December 31, 2008), women throughout Norway were recruited at the first prenatal ultrasonographic visit (approximately 18 weeks’ gestation). The study enrolled 95 278 mothers, 75 248 fathers, and 114 516 children. Our analyses are based on MoBa data released through October 1, 2013, and NPR diagnoses registered through December 31, 2012, and include children born from January 1, 2002, through December 31, 2008, with completed age 18- and 36-month questionnaires. Exposures: We defined 3 groups of children: children with ASD (n = 195), children with DD and delayed language and/or motor development (n = 4636), and children with TD (n = 40 295). Main Outcomes and Measures: The GI symptoms were based on maternal report of constipation, diarrhea, and food allergy/intolerance. Results: Children with ASD were at significantly increased odds of maternally reported constipation (adjusted odds ratio [aOR], 2.7; 95% CI, 1.9-3.8; P < .001) and food allergy/intolerance (aOR, 1.7; 95% CI, 1.1-2.6; P = .01) in the 6- to 18-month-old age period and diarrhea (aOR, 2.3; 95% CI, 1.5-3.6; P < .001), constipation (aOR, 1.6; 95% CI, 1.2-2.3; P < .01), and food allergy/intolerance (aOR, 2.0; 95% CI, 1.3-3.1; P < .01) in the 18- to 36-month-old age period compared with children with TD. Similar results for these symptom categories were observed in comparisons with children with DD, but ORs were slightly lower. Mothers of children with ASD were significantly more likely to report 1 or more GI symptom in either the 6- to 18-month or the 18- to 36-month-old age period and more than twice as likely to report at least 1 GI symptom in both age periods compared with mothers of children with TD or DD. Conclusions and Relevance: In this large prospective cohort, maternally reported GI symptoms are more common and more often persistent during the first 3 years of life in children with ASD than in children with TD or DD.
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4. Butler MG, Rafi SK, Manzardo AM. {{High-resolution chromosome ideogram representation of currently recognized genes for autism spectrum disorders}}. {Int J Mol Sci};2015;16(3):6464-6495.
Recently, autism-related research has focused on the identification of various genes and disturbed pathways causing the genetically heterogeneous group of autism spectrum disorders (ASD). The list of autism-related genes has significantly increased due to better awareness with advances in genetic technology and expanding searchable genomic databases. We compiled a master list of known and clinically relevant autism spectrum disorder genes identified with supporting evidence from peer-reviewed medical literature sources by searching key words related to autism and genetics and from authoritative autism-related public access websites, such as the Simons Foundation Autism Research Institute autism genomic database dedicated to gene discovery and characterization. Our list consists of 792 genes arranged in alphabetical order in tabular form with gene symbols placed on high-resolution human chromosome ideograms, thereby enabling clinical and laboratory geneticists and genetic counsellors to access convenient visual images of the location and distribution of ASD genes. Meaningful correlations of the observed phenotype in patients with suspected/confirmed ASD gene(s) at the chromosome region or breakpoint band site can be made to inform diagnosis and gene-based personalized care and provide genetic counselling for families.
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5. Crane L, Chester JW, Goddard L, Henry LA, Hill E. {{Experiences of autism diagnosis: A survey of over 1000 parents in the United Kingdom}}. {Autism};2015 (Mar 25)
A sample of 1047 parents completed an online survey about their experiences and opinions regarding the process of attaining a diagnosis of autism spectrum disorder for their children. The results revealed that parents usually waited a year from when they first had concerns about their child’s development before they sought professional help. On average, there was a delay of around 3.5 years from the point at which parents first approached a health professional with their concerns to the confirmation of an autism spectrum disorder diagnosis. Just over half of the parents surveyed were dissatisfied with the diagnostic process as a whole. Several factors predicted parents’ overall levels of satisfaction with the diagnostic process, including the time taken to receive a diagnosis, satisfaction with the information provided at diagnosis, the manner of the diagnosing professional, the stress associated with the diagnostic process and satisfaction with post-diagnostic support. Post-diagnosis, the support (if any) that was provided to parents was deemed unsatisfactory, and this was highlighted as an area of particular concern among parents.
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6. Damiano CR, Cockrell DC, Dunlap K, Hanna EK, Miller S, Bizzell J, Kovac M, Turner-Brown L, Sideris J, Kinard J, Dichter GS. {{Neural mechanisms of negative reinforcement in children and adolescents with autism spectrum disorders}}. {J Neurodev Disord};2015;7(1):12.
BACKGROUND: Previous research has found accumulating evidence for atypical reward processing in autism spectrum disorders (ASD), particularly in the context of social rewards. Yet, this line of research has focused largely on positive social reinforcement, while little is known about the processing of negative reinforcement in individuals with ASD. METHODS: The present study examined neural responses to social negative reinforcement (a face displaying negative affect) and non-social negative reinforcement (monetary loss) in children with ASD relative to typically developing children, using functional magnetic resonance imaging (fMRI). RESULTS: We found that children with ASD demonstrated hypoactivation of the right caudate nucleus while anticipating non-social negative reinforcement and hypoactivation of a network of frontostriatal regions (including the nucleus accumbens, caudate nucleus, and putamen) while anticipating social negative reinforcement. In addition, activation of the right caudate nucleus during non-social negative reinforcement was associated with individual differences in social motivation. CONCLUSIONS: These results suggest that atypical responding to negative reinforcement in children with ASD may contribute to social motivational deficits in this population.
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7. Danforth AL, Struble CM, Yazar-Klosinski B, Grob CS. {{MDMA-assisted therapy: A new treatment paradigm for autistic adults with social anxiety}}. {Prog Neuropsychopharmacol Biol Psychiatry};2015 (Mar 25)
The first study of 3,4-methylenedioxymethamphetamine (MDMA)-assisted therapy for the treatment of social anxiety in autistic adults commenced in the spring of 2014. The search for psychotherapeutic options for autistic individuals is imperative considering the lack of effective conventional treatments for mental health diagnoses that are common in this population. Serious Adverse Events (SAEs) involving the administration of MDMA in clinical trials have been rare and non-life threatening. To date, MDMA has been administered to over 1133 individuals for research purposes without the occurrence of unexpected drug-related SAEs that require expedited reporting per FDA regulations. Now that safety parameters for limited use of MDMA in clinical settings have been established, a case can be made to further develop MDMA-assisted therapeutic interventions that could support autistic adults in increasing social adaptability among the typically developing population. As in the case with classic hallucinogens and other psychedelic drugs, MDMA catalyzes shifts toward openness and introspection that do not require ongoing administration to achieve lasting benefits. This infrequent dosing mitigates adverse event frequency and improves the risk/benefit ratio of MDMA, which may provide a significant advantage over medications that require daily dosing. Consequently, clinicians could employ new treatment models for social anxiety or similar types of distress administering MDMA on one to several occasions within the context of a supportive and integrative psychotherapy protocol.
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8. De Felice A, Scattoni ML, Ricceri L, Calamandrei G. {{Prenatal exposure to a common organophosphate insecticide delays motor development in a mouse model of idiopathic autism}}. {PLoS One};2015;10(3):e0121663.
Autism spectrum disorders are characterized by impaired social and communicative skills and repetitive behaviors. Emerging evidence supported the hypothesis that these neurodevelopmental disorders may result from a combination of genetic susceptibility and exposure to environmental toxins in early developmental phases. This study assessed the effects of prenatal exposure to chlorpyrifos (CPF), a widely diffused organophosphate insecticide endowed with developmental neurotoxicity at sub-toxic doses, in the BTBR T+tf/J mouse strain, a validated model of idiopathic autism that displays several behavioral traits relevant to the autism spectrum. To this aim, pregnant BTBR mice were administered from gestational day 14 to 17 with either vehicle or CPF at a dose of 6 mg/kg/bw by oral gavages. Offspring of both sexes underwent assessment of early developmental milestones, including somatic growth, motor behavior and ultrasound vocalization. To evaluate the potential long-term effects of CPF, two different social behavior patterns typically altered in the BTBR strain (free social interaction with a same-sex companion in females, or interaction with a sexually receptive female in males) were also examined in the two sexes at adulthood. Our findings indicate significant effects of CPF on somatic growth and neonatal motor patterns. CPF treated pups showed reduced weight gain, delayed motor maturation (i.e., persistency of immature patterns such as pivoting at the expenses of coordinated locomotion) and a trend to enhanced ultrasound vocalization. At adulthood, CPF associated alterations were found in males only: the altered pattern of investigation of a sexual partner, previously described in BTBR mice, was enhanced in CPF males, and associated to increased ultrasonic vocalization rate. These findings strengthen the need of future studies to evaluate the role of environmental chemicals in the etiology of neurodevelopment disorders.
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9. Dillenburger K, McKerr L, Jordan JA, Devine P, Keenan M. {{Creating an Inclusive Society… How Close are We in Relation to Autism Spectrum Disorder? A General Population Survey}}. {J Appl Res Intellect Disabil};2015 (Mar 25)
BACKGROUND: Children with autism spectrum disorder are increasingly educated in mainstream classrooms in the United Kingdom (Wilkinson & Twist, Autism and Educational Assessment: UK Policy and Practice. NFER, Slough, 2010), and some employers are now specifically seeking out staff on the autism spectrum. Does that mean that we are living in an ‘inclusive society’ [United Nations Department of Economic and Social Affairs (UNDESA), Creating an Inclusive Society: Practical Strategies to Promote Social Integration 2008], in the sense that inequalities are reduced and full economic, social and cultural participation is advanced for individuals with autism? METHODS: A general population survey was conducted to assess how close we, as a society, are to an inclusive society for individuals with autism in Northern Ireland. Public attitudes were examined to (i) visibility and social interaction, (ii) aetiology, needs and interventions, and (iii) rights and resources. RESULTS: A stratified, representative sample of 1204 adults took part in the survey; of these, 989 were aware of autism and their attitudes and behavioural projections reflected a mix of acceptance and denunciation. The level of confusion with regard to interventions reflected the general uncertainty within UK policy regarding meeting the needs of individuals on the autism spectrum (International Journal of Disability, Development and Education 61, 134, 2014a). CONCLUSION: Therefore, it seems that inclusion is working to an extent, but more clarity is needed with regard to adequate education, intervention and support for individuals with autism.
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10. D’Urso G, Bruzzese D, Ferrucci R, Priori A, Pascotto A, Galderisi S, Altamura AC, Bravaccio C. {{Transcranial direct current stimulation for hyperactivity and noncompliance in autistic disorder}}. {World J Biol Psychiatry};2015 (Mar 24):1-6.
OBJECTIVES: To evaluate the safety, efficacy, and feasibility of inhibitory transcranial direct current stimulation (tDCS) for the treatment of behavioural abnormalities of autistic patients. METHODS: Twelve young adult patients with autistic disorder were enrolled. All subjects presented intellectual disability and most of them had speech impairment. The Aberrant Behavior Checklist (ABC) was administered as the primary outcome measure before and after a 2-week tDCS course. All subjects received 10 daily applications of 20 min/1.5 mA/cathodal (inhibitory) tDCS over the left dorso-lateral pre-frontal cortex. RESULTS: Eight out of 10 study completers improved in their abnormal behaviours, reaching an average reduction of 26.7% of the total ABC score. The remaining two patients showed no changes. In the whole group of completers, among the five subscales contributing to the significant reduction of the total score, the most remarkable and statistically significant change was seen in the subscale assessing hyperactivity and non-compliance (-35.9%, P = 0.002). No adverse effects were reported. CONCLUSIONS: Inhibitory tDCS improved the ABC rating scores for autistic behaviours. Owing to its ease of use, cost-effectiveness and the limited availability of specific treatment strategies, tDCS might be a valid therapeutic option to be tested in autistic patients.
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11. Egawa J, Watanabe Y, Wang C, Inoue E, Sugimoto A, Sugiyama T, Igeta H, Nunokawa A, Shibuya M, Kushima I, Orime N, Hayashi T, Okada T, Uno Y, Ozaki N, Someya T. {{Novel rare missense variations and risk of autism spectrum disorder: whole-exome sequencing in two families with affected siblings and a two-stage follow-up study in a Japanese population}}. {PLoS One};2015;10(3):e0119413.
Rare inherited variations in multiplex families with autism spectrum disorder (ASD) are suggested to play a major role in the genetic etiology of ASD. To further investigate the role of rare inherited variations, we performed whole-exome sequencing (WES) in two families, each with three affected siblings. We also performed a two-stage follow-up case-control study in a Japanese population. WES of the six affected siblings identified six novel rare missense variations. Among these variations, CLN8 R24H was inherited in one family by three affected siblings from an affected father and thus co-segregated with ASD. In the first stage of the follow-up study, we genotyped the six novel rare missense variations identified by WES in 241 patients and 667 controls (the Niigata sample). Only CLN8 R24H had higher mutant allele frequencies in patients (1/482) compared with controls (1/1334). In the second stage, this variation was further genotyped, yet was not detected in a sample of 309 patients and 350 controls (the Nagoya sample). In the combined Niigata and Nagoya samples, there was no significant association (odds ratio = 1.8, 95% confidence interval = 0.1-29.6). These results suggest that CLN8 R24H plays a role in the genetic etiology of ASD, at least in a subset of ASD patients.
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12. Fiene L, Brownlow C. {{Investigating interoception and body awareness in adults with and without autism spectrum disorder}}. {Autism Res};2015 (Mar 25)
This study aimed to investigate the current gap in the literature with regard to how adults with and without Autism Spectrum Disorder (ASD) interpret elements of the interoceptive sense, which includes thirst, hunger, temperature, satiety, and the prediction of onset of illness. Adults with a diagnosed ASD (n = 74; 36 males, 38 females) were compared to a control group (n = 228; 53 males, 174 females, 1 unspecified) in their self-reported perceptions of body awareness utilizing the Body Awareness Questionnaire (BAQ) and thirst awareness using the Thirst Awareness Scale (TAS). Those in the ASD group reported a clinically significant lower body and thirst awareness compared to the control group, and this was a large effect (BAQ; d = -1.26, P < 0.001; TAS; d = -1.02, P < 0.001). These findings are of clinical importance, as difficulty with sensing internal bodily states could theoretically impact on the physical and mental health, social interactions and self-awareness of adults with ASD. Autism Res 2014. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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13. Hagmeyer S, Mangus K, Boeckers TM, Grabrucker AM. {{Effects of trace metal profiles characteristic for autism on synapses in cultured neurons}}. {Neural Plast};2015;2015:985083.
Various recent studies revealed that biometal dyshomeostasis plays a crucial role in the pathogenesis of neurological disorders such as autism spectrum disorders (ASD). Substantial evidence indicates that disrupted neuronal homeostasis of different metal ions such as Fe, Cu, Pb, Hg, Se, and Zn may mediate synaptic dysfunction and impair synapse formation and maturation. Here, we performed in vitro studies investigating the consequences of an imbalance of transition metals on glutamatergic synapses of hippocampal neurons. We analyzed whether an imbalance of any one metal ion alters cell health and synapse numbers. Moreover, we evaluated whether a biometal profile characteristic for ASD patients influences synapse formation, maturation, and composition regarding NMDA receptor subunits and Shank proteins. Our results show that an ASD like biometal profile leads to a reduction of NMDAR (NR/Grin/GluN) subunit 1 and 2a, as well as Shank gene expression along with a reduction of synapse density. Additionally, synaptic protein levels of GluN2a and Shanks are reduced. Although Zn supplementation is able to rescue the aforementioned alterations, Zn deficiency is not solely responsible as causative factor. Thus, we conclude that balancing Zn levels in ASD might be a prime target to normalize synaptic alterations caused by biometal dyshomeostasis.
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14. Jarvinen A, Ng R, Crivelli D, Neumann D, Grichanik M, Arnold AJ, Lai P, Trauner D, Bellugi U. {{Patterns of Sensitivity to Emotion in Children with Williams Syndrome and Autism: Relations Between Autonomic Nervous System Reactivity and Social Functioning}}. {J Autism Dev Disord};2015 (Mar 24)
Williams syndrome (WS) and autism spectrum disorder (ASD) are associated with atypical social-emotional functioning. Affective visual stimuli were used to assess autonomic reactivity and emotion identification, and the social responsiveness scale was used to determine the level social functioning in children with WS and ASD contrasted with typical development (TD), to examine syndrome-specific and syndrome-general features. Children with ASD exhibited the highest arousal in response to faces, with a lack of difference in autonomic sensitivity across different emotional expressions, unlike in WS and TD. The WS group demonstrated unique deficits in identifying neutral stimuli. While autonomic responsivity to neutral faces was associated with social functioning in all children, converging profiles characterized children with WS contrasted with TD and ASD.
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15. Kabatas EU, Ozer PA, Ertugrul GT, Kurtul BE, Bodur S, Alan BE. {{Initial Ophthalmic Findings in Turkish Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Mar 24)
Children with autism spectrum disorders (ASD) frequently have ophthalmologic disorders. Due to poor cooperation with ophthalmological examination, ocular abnormalities in such children may be overlooked. We retrospectively studied the records of 324 patients diagnosed as ASD that underwent ophthalmological examination between January 2011 and November 2014 at Dr. Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey. Ophthalmic pathology was noted in 26.9 % of patients with ASD, of which 22 % had significant refractive errors and 8.6 % had strabismus. Comprehensive eye examination by a pediatric ophthalmologist is recommended for all children diagnosed as ASD.
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16. Keehn B, Vogel-Farley V, Tager-Flusberg H, Nelson CA. {{Atypical Hemispheric Specialization for Faces in Infants at Risk for Autism Spectrum Disorder}}. {Autism Res};2015 (Mar 25)
Among the many experimental findings that tend to distinguish those with and without autism spectrum disorder (ASD) are face processing deficits, reduced hemispheric specialization, and atypical neurostructural and functional connectivity. To investigate the earliest manifestations of these features, we examined lateralization of event-related gamma-band coherence to faces during the first year of life in infants at high risk for autism (HRA; defined as having an older sibling with ASD) who were compared with low-risk comparison (LRC) infants, defined as having no family history of ASD. Participants included 49 HRA and 46 LRC infants who contributed a total of 127 data sets at 6 and 12 months. Electroencephalography was recorded while infants viewed images of familiar/unfamiliar faces. Event-related gamma-band (30-50 Hz) phase coherence between anterior-posterior electrode pairs for left and right hemispheres was computed. Developmental trajectories for lateralization of intra-hemispheric coherence were significantly different in HRA and LRC infants: by 12 months, HRA infants showed significantly greater leftward lateralization compared with LRC infants who showed rightward lateralization. Preliminary results indicate that infants who later met criteria for ASD were those that showed the greatest leftward lateralization. HRA infants demonstrate an aberrant pattern of leftward lateralization of intra-hemispheric coherence by the end of the first year of life, suggesting that the network specialized for face processing may develop atypically. Further, infants with the greatest leftward asymmetry at 12 months where those that later met criteria for ASD, providing support to the growing body of evidence that atypical hemispheric specialization may be an early neurobiological marker for ASD. Autism Res 2015, : -. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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17. Kirsten TB, Queiroz-Hazarbassanov N, Bernardi MM, Felicio LF. {{Prenatal zinc prevents communication impairments and BDNF disturbance in a rat model of autism induced by prenatal lipopolysaccharide exposure}}. {Life Sci};2015 (Mar 25)
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18. Lai WW, Goh TJ, Oei TP, Sung M. {{Coping and Well-Being in Parents of Children with Autism Spectrum Disorders (ASD)}}. {J Autism Dev Disord};2015 (Mar 24)
This study examined psychological well-being and coping in parents of children with ASD and parents of typically developing children. 73 parents of children with ASD and 63 parents of typically developing children completed a survey. Parents of children with ASD reported significantly more parenting stress symptoms (i.e., negative parental self-views, lower satisfaction with parent-child bond, and experiences of difficult child behaviors), more depression symptoms, and more frequent use of Active Avoidance coping, than parents of typically developing children. Parents of children with ASD did not differ significantly in psychological well-being and coping when compared as according to child’s diagnosis. Study results reinforced the importance of addressing well-being and coping needs of parents of children with ASD.
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19. Lake JK, Vogan V, Sawyer A, Weiss JA, Lunsky Y. {{Psychotropic Medication Use Among Adolescents and Young Adults with an Autism Spectrum Disorder: Parent Views About Medication Use and Healthcare Services}}. {J Child Adolesc Psychopharmacol};2015 (Mar 24)
OBJECTIVE: Psychotropic medications are frequently used to treat mental health and behavioral issues in adolescents and adults with an autism spectrum disorder (ASD). Although parents of individuals with ASD frequently take on medication management for their child, there is limited literature on parent perspectives of their child’s medication use or their views about the healthcare services they receive, particularly in adulthood. The current study examined and compared parents of adolescents and of young adults with ASD regarding their child’s psychotropic medication use and their views about healthcare services. METHODS: One hundred parents of adolescents and young adults with ASD (ages 12-30 years) completed an online survey about their experience with their child’s healthcare services and medication use. RESULTS: Parents of young adults were less likely to use nonpharmacological services before using a psychotropic medication than were parents of adolescents. Parents of young adults were also less likely to believe that their prescribing healthcare provider had adequate expertise in ASD, and were less satisfied with how their prescriber monitored their child’s medication use. CONCLUSION: Findings highlight the need to build capacity among healthcare providers supporting individuals with ASD as they transition into adulthood. There is also a need for improved medication monitoring and increased awareness of the different mental health challenges that individuals with ASD encounter as they age.
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20. McGuinness TM. {{Update on Autism Spectrum Disorder: Vaccines, Genomes, and Social Skills Training}}. {J Psychosoc Nurs Ment Health Serv};2015 (Mar 18):1-4.
Despite making significant progress in understanding autism spectrum disorder (ASD) and its genetic underpinnings, controversy remains regarding ASD and its historical, erroneous association with vaccines. This controversy includes the latest anti-vaccine movement that caused a recurrence of the almost vanquished measles and mumps diseases. The history of ASD, complexities of research involving ASD genetics, and benefits of social skills training are explored. [Journal of Psychosocial Nursing and Mental Health Services, xx(xx), xx-xx.].
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21. Nakamura T, Matsumoto J, Takamura Y, Ishii Y, Sasahara M, Ono T, Nishijo H. {{Relationships among Parvalbumin-Immunoreactive Neuron Density, Phase-Locked Gamma Oscillations, and Autistic/Schizophrenic Symptoms in PDGFR-beta Knock-Out and Control Mice}}. {PLoS One};2015;10(3):e0119258.
Cognitive deficits and negative symptoms are important therapeutic targets for schizophrenia and autism disorders. Although reduction of phase-locked gamma oscillation has been suggested to be a result of reduced parvalbumin-immunoreactive (putatively, GABAergic) neurons, no direct correlations between these have been established in these disorders. In the present study, we investigated such relationships during pharmacological treatment with a newly synthesized drug, T-817MA, which displays neuroprotective and neurotrophic effects. In this study, we used platelet-derived growth factor receptor-beta gene knockout (PDGFR-beta KO) mice as an animal model of schizophrenia and autism. These mutant mice display a reduction in social behaviors; deficits in prepulse inhibition (PPI); reduced levels of parvalbumin-immunoreactive neurons in the medical prefrontal cortex, hippocampus, amygdala, and superior colliculus; and a deficit in of auditory phase-locked gamma oscillations. We found that oral administration of T-817MA ameliorated all these symptoms in the PDGFR-beta KO mice. Furthermore, phase-locked gamma oscillations were significantly correlated with the density of parvalbumin-immunoreactive neurons, which was, in turn, correlated with PPI and behavioral parameters. These findings suggest that recovery of parvalbumin-immunoreactive neurons by pharmacological intervention relieved the reduction of phase-locked gamma oscillations and, consequently, ameliorated PPI and social behavioral deficits. Thus, our findings suggest that phase-locked gamma oscillations could be a useful physiological biomarker for abnormality of parvalbumin-immunoreactive neurons that may induce cognitive deficits and negative symptoms of schizophrenia and autism, as well as of effective pharmacological interventions in both humans and experimental animals.
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22. Ooi YP, Weng SJ, Jang LY, Low L, Seah J, Teo S, Ang RP, Lim CG, Liew A, Fung DS, Sung M. {{Omega-3 fatty acids in the management of autism spectrum disorders: findings from an open-label pilot study in Singapore}}. {Eur J Clin Nutr};2015 (Mar 25)
The goal of this open-label trial was to examine the efficacy and safety of a 12-week omega-3 fatty acids supplementation among children suffering with Autism Spectrum Disorders (ASD). A total of 41 children and adolescents aged 7-18 years (36 boys, 5 girls; mean age=11.66, s.d.=3.05) diagnosed with ASD participated in the study. At post-treatment, participants showed significant improvements on all subscales of the Social Responsiveness Scale (P<0.01) and the Social and Attention Problems syndrome scales of the Child Behavior Checklist (P<0.05). Blood fatty acid levels were significantly correlated with changes in the core symptoms of ASD. Baseline levels of blood fatty acid levels were also predictive of response to the omega-3 treatment. Omega-3 fatty acids supplementation was well-tolerated and did not cause any serious side effects. Our findings lend some preliminary support for the use of omega-3 fatty acids supplementation in addressing ASD. Future randomized controlled trials of omega-3 fatty acids in ASD with blood fatty acid measurements with a larger sample and longer follow-up period is warranted.European Journal of Clinical Nutrition advance online publication, 25 March 2015; doi:10.1038/ejcn.2015.28.
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23. Romaniello R, Saettini F, Panzeri E, Arrigoni F, Bassi MT, Borgatti R. {{A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype}}. {Neuroreport};2015 (Mar 25);26(5):254-257.
This study reports on a 9-year-old girl who developed West syndrome and showed clinical features fulfilling the main revised diagnostic criteria for typical Rett syndrome (hand washing, severe cognitive impairment with absence of language, ataxic gait, progressive scoliosis and autistic features). Mutation analyses for methyl-CpG-binding protein 2 (MECP2), cyclin-dependent kinase-like 5 (CDKL5/STK9), ARX and Forkhead box G1 (FOXG1) genes were carried out, with negative results. A known de-novo c.1217G>A missense mutation in exon 14 leading to the substitution of a conserved residue, p.R406H in domain3b of the syntaxin-binding protein 1 (STXBP1) gene, was detected. The STXBP1 gene encodes the syntaxin-binding protein 1, a neuron-specific protein involved in synaptic vesicle release at both glutaminergic and GABAergic synapses. This function is also affected by MECP2 gene mutations, which are known to lead to a decrease in glutamate and GABA receptors’ density. It is possible to speculate that the impairment in synaptic plasticity represents the pathogenic link between MECP2 and STXBP1 gene mutations. On reviewing the clinical features of the reported patients with the same mutation in the STXBP1 gene, it has been observed that poor eye contact, tremour, dyskinesia, head/hand stereotypies and both cognitive and motor progressive deterioration are common symptoms, although never considered as indicative of a Rett syndrome phenotype. In conclusion, the case described here suggests a relationship between the Rett syndrome and the STXBP1 gene not described so far, making the search for STXBP1 gene mutations advisable in patients with Rett syndrome and early onset of epilepsy.
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24. Sayson B, Popurs MA, Lafek M, Berkow R, Stockler-Ipsiroglu S, van Karnebeek CD. {{Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities}}. {Mol Genet Metab};2015 (Mar 9)
BACKGROUND: Intellectual developmental disorders (IDD1), characterized by a significant impairment in cognitive function and behavior, affect 2.5% of the population and are associated with considerable morbidity and healthcare costs. Inborn errors of metabolism (IEM) currently constitute the largest group of genetic defects presenting with IDD, which are amenable to causal therapy. Recently, we created an evidence-based 2-tiered diagnostic protocol (TIDE protocol); the first tier is a ‘screening step’ applied in all patients, comprising routinely performed, wide available metabolic tests in blood and urine, while second-tier tests are more specific and based on the patient’s phenotype. The protocol is supported by an app (www.treatable-ID.org). OBJECTIVE: To retrospectively examine the cost- and time-effectiveness of the TIDE protocol in patients identified with a treatable IEM at the British Columbia Children’s Hospital. METHODS: We searched the database for all IDD patients diagnosed with a treatable IEM, during the period 2000-2009 in our academic institution. Data regarding the patient’s clinical phenotype, IEM, diagnostic tests and interval were collected. Total costs and time intervals associated with all testing and physician consultations actually performed were calculated and compared to the model of the TIDE protocol. RESULTS: Thirty-one patients (16 males) were diagnosed with treatable IDD during the period 2000-2009. For those identifiable via the 1st tier (n=20), the average cost savings would have been $311.17 CAD, and for those diagnosed via a second-tier test (n=11) $340.14 CAD. Significant diagnostic delay (mean 9months; range 1-29 months) could have been avoided in 9 patients with first-tier diagnoses, had the TIDE protocol been used. For those with second-tier treatable IDD, diagnoses could have been more rapidly achieved with the use of the Treatable IDD app allowing for specific searches based on signs and symptoms. CONCLUSION: The TIDE protocol for treatable forms of IDD appears effective reducing diagnostic delay and unnecessary costs. Larger prospective studies, currently underway, are needed to prove that standard screening for treatable conditions in patients with IDD is time- and cost-effective, and most importantly will preserve brain function by timely diagnosis enabling initiation of causal therapy.
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25. Selten JP, Lundberg M, Rai D, Magnusson C. {{Risks for Nonaffective Psychotic Disorder and Bipolar Disorder in Young People With Autism Spectrum Disorder: A Population-Based Study}}. {JAMA Psychiatry};2015 (Mar 25)
Importance: Whether individuals with autism spectrum disorder (ASD) are at increased risk for nonaffective psychotic disorder (NAPD) or bipolar disorder (BD) is unknown. Objective: To test whether the risks for NAPD and BD in individuals with ASD are increased and whether these risks are higher than those of their siblings not diagnosed as having ASD. Design, Setting, and Participants: We performed a nested case-control study of all individuals 17 years or younger who ever resided in Stockholm County, Sweden, from January 1, 2001, through December 31, 2011 (Stockholm Youth Cohort). We included cohort members ever diagnosed as having ASD (n = 9062) and their full siblings never diagnosed as having ASD. Each case was matched with 10 control individuals of the same sex born during the same month and year. Using Swedish registers, cases, siblings, and controls were followed up until December 31, 2011. By then, the oldest individuals had reached the age of 27 years. Exposures: Autism spectrum disorder, registered before age 16 or 28 years. We distinguished between ASD with and without intellectual disability (ID). Main Outcomes and Measures: We calculated odds ratios (ORs) for NAPD and BD adjusted for age, sex, population density of place of birth, personal or parental history of migration, hearing impairment, parental age, parental income, parental educational level, and parental history of psychiatric disorder. Results: The adjusted ORs for NAPD and BD for cases with non-ID ASD registered before age 16 years were 5.6 (95% CI, 3.3-8.5) and 5.8 (95% CI, 3.9-8.7), respectively; the adjusted ORs for cases with ID ASD were 3.5 (95% CI, 2.0-6.0) and 1.8 (95% CI, 0.8-4.1). The adjusted ORs for NAPD and BD in cases with non-ID ASD registered before age 28 years were 12.3 (95% CI, 9.5-15.9) and 8.5 (95% CI, 6.5-11.2), respectively; for cases with ID ASD, these ORs were 6.4 (95% CI, 4.2-9.8) and 2.0 (95% CI, 1.0-3.9), respectively. The ORs for NAPD and BD for the nonautistic full siblings of cases for whom ASD was registered before age 16 years, adjusted for hearing loss, were 1.8 (95% CI, 1.1-2.7) and 1.7 (95% CI, 1.1-2.6), respectively. Conclusions and Relevance: A diagnosis of ASD is associated with a substantially increased risk for NAPD and BD. This finding contributes to our understanding of these disorders and has implications for the management of ASD.
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26. Srinivasjois R, Rao S, Patole S. {{Probiotic supplementation in children with autism spectrum disorder}}. {Arch Dis Child};2015 (Mar 25)
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27. Tarquinio DC, Hou W, Neul JL, Lane JB, Barnes KV, O’Leary HM, Bruck NM, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Annese F, Baggett L, Barrish JO, Geerts SP, Percy AK. {{Age of Diagnosis in Rett Syndrome: Patterns of Recognition Among Diagnosticians and Risk Factors for Late Diagnosis}}. {Pediatr Neurol};2015 (Feb 16)
PURPOSE: Diagnosis of Rett syndrome (RTT) is often delayed. We sought to determine the type of physician who typically makes the RTT diagnosis and to identify risk factors for delayed diagnosis. METHODS: A total of 1085 participants from the multicenter longitudinal RTT natural history study with classic and atypical RTT were recruited between 2006 and 2014. Age of diagnosis, diagnostician, diagnostic criteria, and clinical and developmental data were collected. RESULTS: Among 919 classic and 166 atypical RTT participants, the median diagnosis age was 2.7 years (interquartile range 2.0-4.1) in classic and 3.8 years (interquartile range 2.3-6.9) in atypical RTT. Pediatricians made the diagnosis of classic RTT rarely (5.2%); however, the proportion diagnosed by pediatricians has increased since 2006. Since the first diagnostic criteria, the age of diagnosis decreased among subspecialists but not pediatricians. Odds of a pediatrician making the diagnosis of classic RTT were higher if a child stopped responding to parental interaction, and lower if they possessed gastroesophageal reflux, specific stereotypies, lost babbling, or the ability to follow commands. Delayed acquisition of basic gross motor skills or finger feeding was associated with younger diagnosis; delayed acquisition of higher level fine motor skills, later onset of supportive features, and normal head circumference were associated with late diagnosis. Thirty-three percent with microcephaly before 2.5 years were diagnosed after the median age of 2.7 years. CONCLUSIONS: Age of RTT diagnosis has improved among subspecialists, and pediatricians have made the diagnosis of classic RTT more frequently since 2006. Strategies for educating diagnosticians should incorporate specific risk factors for delayed diagnosis.
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28. Turner TN, Sharma K, Oh EC, Liu YP, Collins RL, Sosa MX, Auer DR, Brand H, Sanders SJ, Moreno-De-Luca D, Pihur V, Plona T, Pike K, Soppet DR, Smith MW, Cheung SW, Martin CL, State MW, Talkowski ME, Cook E, Huganir R, Katsanis N, Chakravarti A. {{Loss of delta-catenin function in severe autism}}. {Nature};2015 (Mar 25)
Autism is a multifactorial neurodevelopmental disorder affecting more males than females; consequently, under a multifactorial genetic hypothesis, females are affected only when they cross a higher biological threshold. We hypothesize that deleterious variants at conserved residues are enriched in severely affected patients arising from female-enriched multiplex families with severe disease, enhancing the detection of key autism genes in modest numbers of cases. Here we show the use of this strategy by identifying missense and dosage sequence variants in the gene encoding the adhesive junction-associated delta-catenin protein (CTNND2) in female-enriched multiplex families and demonstrating their loss-of-function effect by functional analyses in zebrafish embryos and cultured hippocampal neurons from wild-type and Ctnnd2 null mouse embryos. Finally, through gene expression and network analyses, we highlight a critical role for CTNND2 in neuronal development and an intimate connection to chromatin biology. Our data contribute to the understanding of the genetic architecture of autism and suggest that genetic analyses of phenotypic extremes, such as female-enriched multiplex families, are of innate value in multifactorial disorders.
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29. Williams AC. {{Autoextraction of twelve permanent teeth in a child with autistic spectrum disorder}}. {Int J Paediatr Dent};2015 (Mar 25)
BACKGROUND: This report discusses self-injurious behaviour; this is not unusual in people with autistic spectrum disorders but is not commonly experienced as autoextraction. CASE REPORT: This case concerns a 12 year old child who presented as a new patient with two teeth missing. He then went on to remove a further ten teeth over a relatively short space of time. CONCLUSION: The recognition of autoextraction by the dental team is important. its management involves a multidisciplinary team which includes professionals from education, health and social care who work together to prevent progressive self-injury.
