1. {{Older Adults and Autism Spectrum Conditions: An Introduction and Guide Lawson Wenn Older Adults and Autism Spectrum Conditions: An Introduction and Guide 208pp pound14.99 Jessica Kingsley 9781849059619 1849059616 [Formula: see text]}}. {Nurs Older People};2016 (Jan);28(1):10.
THE AUTHOR offers a fascinating insight into what life is often like for older people with autism spectrum conditions.
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2. Acikel B, Yar A, Herguner S. {{Functional Vomiting Treated Successfully with Aripiprazole in a Child with Autism Spectrum Disorder}}. {J Child Adolesc Psychopharmacol};2016 (Mar 3)
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3. Broek JA, Lin Z, de Gruiter HM, van ‘t Spijker H, Haasdijk ED, Cox D, Ozcan S, van Cappellen GW, Houtsmuller AB, Willemsen R, de Zeeuw CI, Bahn S. {{Synaptic vesicle dynamic changes in a model of fragile X}}. {Mol Autism};2016;7:17.
BACKGROUND: Fragile X syndrome (FXS) is a single-gene disorder that is the most common heritable cause of intellectual disability and the most frequent monogenic cause of autism spectrum disorders (ASD). FXS is caused by an expansion of trinucleotide repeats in the promoter region of the fragile X mental retardation gene (Fmr1). This leads to a lack of fragile X mental retardation protein (FMRP), which regulates translation of a wide range of messenger RNAs (mRNAs). The extent of expression level alterations of synaptic proteins affected by FMRP loss and their consequences on synaptic dynamics in FXS has not been fully investigated. METHODS: Here, we used an Fmr1 knockout (KO) mouse model to investigate the molecular mechanisms underlying FXS by monitoring protein expression changes using shotgun label-free liquid-chromatography mass spectrometry (LC-MS(E)) in brain tissue and synaptosome fractions. FXS-associated candidate proteins were validated using selected reaction monitoring (SRM) in synaptosome fractions for targeted protein quantification. Furthermore, functional alterations in synaptic release and dynamics were evaluated using live-cell imaging, and interpretation of synaptic dynamics differences was investigated using electron microscopy. RESULTS: Key findings relate to altered levels of proteins involved in GABA-signalling, especially in the cerebellum. Further exploration using microscopy studies found reduced synaptic vesicle unloading of hippocampal neurons and increased vesicle unloading in cerebellar neurons, which suggests a general decrease of synaptic transmission. CONCLUSIONS: Our findings suggest that FMRP is a regulator of synaptic vesicle dynamics, which supports the role of FMRP in presynaptic functions. Taken together, these studies provide novel insights into the molecular changes associated with FXS.
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4. Burke MM, Magana S, Garcia M, Mello MP. {{Brief Report: The Feasibility and Effectiveness of an Advocacy Program for Latino Families of Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Mar 5)
Latino, Spanish-speaking families of children with autism spectrum disorder (ASD) face unique barriers in special education advocacy. Although advocacy programs are becoming more common in the United States, none of these programs target Latino families. This is a pilot study to examine the feasibility and effectiveness of an advocacy program for Latino families of children with ASD. Using a quasi-experimental design, 40 Latino family members of children with ASD participated in this study. Results demonstrated consistent attendance, low attrition, and high participant satisfaction. Intervention (versus control) group participants demonstrated significantly increased empowerment and special education knowledge, and stronger family-school partnerships. Findings provide preliminary support for advocacy programs for Latino families of children with ASD.
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5. Campbell SB, Leezenbaum NB, Mahoney AS, Moore EL, Brownell CA. {{Pretend Play and Social Engagement in Toddlers at High and Low Genetic Risk for Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Mar 2)
Toddlers with an older sibling with autism spectrum disorder (ASD) and low risk (LR) toddlers with typically-developing older siblings were observed during free play with a parent and elicited pretend with an examiner at 22-months. Functional and pretend play, children’s social engagement, and parent sensitivity were assessed during free play. Complexity of play was assessed during the elicited pretend task. Toddlers with an ASD diagnosis showed less pretend play across contexts and less social engagement with parents or the examiner than either LR toddlers or high risk toddlers without a diagnosis (HR-noASD). Lower levels of pretend play and social engagement were associated with symptom severity within the high risk group, reflecting emerging ASD in toddlerhood.
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6. Clince M, Connolly L, Nolan C. {{Comparing and Exploring the Sensory Processing Patterns of Higher Education Students With Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorder}}. {Am J Occup Ther};2016 (Mar-Apr);70(2):7002250010p7002250011-7002250019.
OBJECTIVE: Research regarding sensory processing and adults with attention deficit hyperactivity disorder (ADHD) or autism spectrum disorder (ASD) is limited. This study aimed to compare sensory processing patterns of groups of higher education students with ADHD or ASD and to explore the implications of these disorders for their college life. METHOD: The Adolescent/Adult Sensory Profile was administered to 28 students with ADHD and 27 students with ASD. Students and professionals were interviewed. RESULTS: The majority of students received scores that differed from those of the general population. Students with ADHD received significantly higher scores than students with ASD in relation to sensation seeking; however, there were no other major differences. CONCLUSION: Few differences exist between the sensory processing patterns of students with ADHD and ASD; however, both groups differ significantly from the general population. Occupational therapists should consider sensory processing patterns when designing supports for these groups.
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7. Coshway L, Broussard J, Acharya K, Fried K, Msall ME, Lantos JD, Nahata L. {{Medical Therapy for Inappropriate Sexual Behaviors in a Teen With Autism Spectrum Disorder}}. {Pediatrics};2016 (Mar 2)
Teens with autism spectrum disorder often exhibit sexual behaviors in public that are disturbing to parents, teachers, and peers. Some have proposed that such behaviors can be curtailed with hormonal suppression. There is information on the Internet suggesting that such medications work, and some reports in the peer-reviewed medical literature support these claims. Such medications can have serious side effects. In this paper, we present a case in which parents requested such treatment of their teenage son with autism spectrum disorder.
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8. Crippa A, Del Vecchio G, Busti Ceccarelli S, Nobile M, Arrigoni F, Brambilla P. {{Cortico-Cerebellar Connectivity in Autism Spectrum Disorder: What Do We Know So Far?}}. {Front Psychiatry};2016;7:20.
Although the Autism Spectrum Disorder (ASD) is renowned to be a connectivity disorder and a condition characterized by cerebellar involvement, the connectivity between the cerebellum and other cortical brain regions is particularly underexamined. Indeed, converging evidence has recently suggested that the cerebellum could play a key role in the etiopathogenesis of ASD, since cerebellar anomalies have been consistently reported in ASD from the molecular to the behavioral level, and damage to the cerebellum early in development has been linked with signs of autistic features. In addition, current data have shown that the cerebellum is a key structure not only for sensory-motor control, but also for « higher functions, » such as social cognition and emotion, through its extensive connections with cortical areas. The disruption of these circuits could be implicated in the wide range of autistic symptoms that the term « spectrum » connotes. In this review, we present and discuss the recent findings from imaging studies that investigated cortico-cerebellar connectivity in people with ASD. The literature is still too limited to allow for definitive conclusions; however, this brief review reveals substantial areas for future studies, underlining currently unmet research perspectives.
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9. Darbro BW, Singh R, Zimmerman MB, Mahajan VB, Bassuk AG. {{Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate}}. {PLoS One};2016;11(3):e0149041.
Autism spectrum disorder (ASD) is one phenotypic aspect of many monogenic, hereditary cancer syndromes. Pleiotropic effects of cancer genes on the autism phenotype could lead to repurposing of oncology medications to treat this increasingly prevalent neurodevelopmental condition for which there is currently no treatment. To explore this hypothesis we sought to discover whether autistic patients more often have rare coding, single-nucleotide variants within tumor suppressor and oncogenes and whether autistic patients are more often diagnosed with neoplasms. Exome-sequencing data from the ARRA Autism Sequencing Collaboration was compared to that of a control cohort from the Exome Variant Server database revealing that rare, coding variants within oncogenes were enriched for in the ARRA ASD cohort (p<1.0x10-8). In contrast, variants were not significantly enriched in tumor suppressor genes. Phenotypically, children and adults with ASD exhibited a protective effect against cancer, with a frequency of 1.3% vs. 3.9% (p<0.001), but the protective effect decreased with age. The odds ratio of neoplasm for those with ASD relative to controls was 0.06 (95% CI: 0.02, 0.19; p<0.0001) in the 0 to 14 age group; 0.35 (95% CI: 0.14, 0.87; p = 0.024) in the 15 to 29 age group; 0.41 (95% CI: 0.15, 1.17; p = 0.095) in the 30 to 54 age group; and 0.49 (95% CI: 0.14, 1.74; p = 0.267) in those 55 and older. Both males and females demonstrated the protective effect. These findings suggest that defects in cellular proliferation, and potentially senescence, might influence both autism and neoplasm, and already approved drugs targeting oncogenic pathways might also have therapeutic value for treating autism. Lien vers le texte intégral (Open Access ou abonnement)
10. Del Casale A, Kotzalidis GD, Sacco M, Rapinesi C, De Giorgi R, Giardini M, D’Andreagiovanni M, Carlino N, Brugnoli R, Girardi P. {{Effectiveness of switching from oral ziprasidone to risperidone in a patient with comorbid autistic disorder, profound intellectual disability, Gilbert syndrome, and exacerbation of psychosis}}. {Psychiatr Danub};2016 (Mar);28(1):91-94.
11. El-Ansary A. {{Data of multiple regressions analysis between selected biomarkers related to glutamate excitotoxicity and oxidative stress in Saudi autistic patients}}. {Data Brief};2016 (Jun);7:111-116.
This work demonstrates data of multiple regression analysis between nine biomarkers related to glutamate excitotoxicity and impaired detoxification as two mechanisms recently recorded as autism phenotypes. The presented data was obtained by measuring a panel of markers in 20 autistic patients aged 3-15 years and 20 age and gender matching healthy controls. Levels of GSH, glutathione status (GSH/GSSG), glutathione reductase (GR), glutathione-s-transferase (GST), thioredoxin (Trx), thioredoxin reductase (TrxR) and peroxidoxins (Prxs I and III), glutamate, glutamine, glutamate/glutamine ratio glutamate dehydrogenase (GDH) in plasma and mercury (Hg) in red blood cells were determined in both groups. In Multiple regression analysis, R (2) values which describe the proportion or percentage of variance in the dependent variable attributed to the variance in the independent variables together were calculated. Moreover, beta coefficients values which show the direction either positive or negative and the contribution of the independent variable relative to the other independent variables in explaining the variation of the dependent variable were determined. A panel of inter-related markers was recorded. This paper contains data related to and supporting research articles currently published entitled « Mechanism of nitrogen metabolism-related parameters and enzyme activities in the pathophysiology of autism » [1], « Novel metabolic biomarkers related to sulfur-dependent detoxification pathways in autistic patients of Saudi Arabia [2], and « A key role for an impaired detoxification mechanism in the etiology and severity of autism spectrum disorders » [3].
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12. Feldman D, Banerjee A, Sur M. {{Developmental Dynamics of Rett Syndrome}}. {Neural Plast};2016;2016:6154080.
Rett Syndrome was long considered to be simply a disorder of postnatal development, with phenotypes that manifest only late in development and into adulthood. A variety of recent evidence demonstrates that the phenotypes of Rett Syndrome are present at the earliest stages of brain development, including developmental stages that define neurogenesis, migration, and patterning in addition to stages of synaptic and circuit development and plasticity. These phenotypes arise from the pleotropic effects of MeCP2, which is expressed very early in neuronal progenitors and continues to be expressed into adulthood. The effects of MeCP2 are mediated by diverse signaling, transcriptional, and epigenetic mechanisms. Attempts to reverse the effects of Rett Syndrome need to take into account the developmental dynamics and temporal impact of MeCP2 loss.
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13. Glennon TJ. {{Survey of College Personnel: Preparedness to Serve Students With Autism Spectrum Disorder}}. {Am J Occup Ther};2016 (Mar-Apr);70(2):7002260010p7002260011-7002260016.
OBJECTIVE: This study explored the perceptions, preparedness, and practices of college personnel regarding support for students with autism spectrum disorder (ASD). METHOD: Members of the Association on Higher Education and Disability were invited to complete an online survey in 2012. The survey gathered data on training level, understanding of student needs, and supports provided to students with ASD in the areas of academic transitional situations, social activities, sensory needs, attention and organization, self-advocacy and self-disclosure, and emotional regulation. RESULTS: Of the 315 respondents who completed the survey, 94% were involved in designing needed supports for students with ASD. Of those involved in designing needed supports, 55% indicated the need for additional information and 63% indicated that their institution struggled with outlining the supports needed and would have liked to know more about how to support these students. CONCLUSION: Opportunities exist for occupational therapy collaboration, consultation, case management, and direct intervention to support college students with ASD.
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14. Gogliotti RG, Klar R, Rook JM, Ghoshal A, Zamorano R, Malosh C, Stauffer SR, Bridges TM, Bartolome JM, Daniels JS, Jones C, Lindsley CW, Conn PJ, Niswender CM. {{mGlu5 Positive Allosteric Modulation Normalizes Synaptic Plasticity Defects and Motor Phenotypes in a Mouse Model of Rett Syndrome}}. {Hum Mol Genet};2016 (Mar 2)
Rett syndrome (RS) is a neurodevelopmental disorder that shares many symptomatic and pathological commonalities with idiopathic autism. Alterations in protein synthesis dependent synaptic plasticity (PSDSP) are a hallmark of a number of syndromic forms of autism; in the present work, we explore the consequences of disruption and rescue of PSDSP in a mouse model of RS. We report that expression of a key regulator of synaptic protein synthesis, the metabotropic glutamate receptor 5 (mGlu5) protein, is significantly reduced in both the brains of RS model mice and in the motor cortex of human RS autopsy samples. Furthermore, we demonstrate that reduced mGlu5 expression correlates with attenuated DHPG induced long term depression (LTD) in the hippocampus of RS model mice, and that administration of a novel mGlu5 positive allosteric modulator (PAM), termed VU0462807, can rescue synaptic plasticity defects. Additionally, treatment of Mecp2-deficient mice with VU0462807 improves motor performance (open field behavior and gait dynamics), corrects repetitive clasping behavior, as well as normalizes cued fear conditioning defects. Importantly, due to the rationale drug discovery approach used in its development, our novel mGlu5 PAM improves RS phenotypes and synaptic plasticity defects without evoking the overt adverse effects commonly associated with potentiation of mGlu5 signaling (i.e. seizures), or affecting cardiorespiratory defects in RS model mice. These findings provide strong support for the continued development of mGlu5 PAMs as potential therapeutic agents for use in RS, and, more broadly, for utility in idiopathic autism.
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15. Haigh SM, Heeger DJ, Heller LM, Gupta A, Dinstein I, Minshew NJ, Behrmann M. {{No difference in cross-modal attention or sensory discrimination thresholds in autism and matched controls}}. {Vision Res};2016 (Mar 1);121:85-94.
Autism has been associated with abnormalities in sensory and attentional processing. Here, we assessed these processes independently in the visual and auditory domains using a visual contrast-discrimination task and an auditory modulation-depth discrimination task. To evaluate changes in sensory function by attention, we measured behavioral performance (discrimination accuracy) when subjects were cued to attend and respond to the same stimulus (frequent valid cue) or cued to attend to one stimulus and respond to the non-cued stimulus (infrequent invalid cue). The stimuli were presented at threshold to ensure equal difficulty across participants and groups. Results from fifteen high-functioning adult individuals with autism and fifteen matched controls revealed no significant differences in visual or auditory discrimination thresholds across groups. Furthermore, attention robustly modulated performance accuracy (performance was better for valid than invalid cues) in both sensory modalities and to an equivalent extent in both groups. In conclusion, when using this well-controlled method, we found no evidence of atypical sensory function or atypical attentional modulation in a group of high functioning individuals with clear autism symptomatology.
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16. Hall SS, Dougherty RF, Reiss AL. {{Profiles of aberrant white matter microstructure in fragile X syndrome}}. {Neuroimage Clin};2016;11:133-138.
Previous studies attempting to quantify white matter (WM) microstructure in individuals with fragile X syndrome (FXS) have produced inconsistent findings, most likely due to the various control groups employed, differing analysis methods, and failure to examine for potential motion artifact. In addition, analyses have heretofore lacked sufficient specificity to provide regional information. In this study, we used Automated Fiber-tract Quantification (AFQ) to identify specific regions of aberrant WM microstructure along WM tracts in patients with FXS that differed from controls who were matched on age, IQ and degree of autistic symptoms. Participants were 20 patients with FXS, aged 10 to 23 years, and 20 matched controls. Using Automated Fiber-tract Quantification (AFQ), we created Tract Profiles of fractional anisotropy and mean diffusivity along 18 major WM fascicles. We found that fractional anisotropy was significantly increased in the left and right inferior longitudinal fasciculus (ILF), right uncinate fasciculus, and left cingulum hippocampus in individuals with FXS compared to controls. Conversely, mean diffusivity was significantly decreased in the right ILF in patients with FXS compared to controls. Age was significantly negatively associated with MD values across both groups in 11 tracts. Taken together, these findings indicate that FXS results in abnormal WM microstructure in specific regions of the ILF and uncinate fasciculus, most likely caused by inefficient synaptic pruning as a result of decreased or absent Fragile X Mental Retardation Protein (FMRP). Longitudinal studies are needed to confirm these findings.
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17. Harrop C, Green J, Hudry K. {{Play complexity and toy engagement in preschoolers with autism spectrum disorder: Do girls and boys differ?}}. {Autism};2016 (Mar 2)
While sex differences in play have been extensively observed in typical development, only a handful of studies have explored this phenomenon in depth with children with autism spectrum disorders. This study explored sex differences in play complexity and toy engagement within caregiver-child interaction samples for preschool-aged children (2-5 years 11 months) with an autism spectrum disorder who were matched to typically developing children on sex and non-verbal development. Overall we found that girls and boys with autism spectrum disorder were largely equivalent in their play complexity. Despite similar play, girls and boys with autism spectrum disorder differed in a number of ways in their toy engagement, replicating traditional gender differences-girls played more with dolls and domestic items (though at lower rates than typically developing girls) and boys played more with the garage and cars (though at lower rates than typically developing boys). Our findings support the importance and utility of examining sex differences in autism spectrum disorder in light of those observed within typical development.
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18. Kawabe K, Kondo S, Matsumoto M, Seo K, Ochi M, Oka Y, Horiuchi F, Ueno SI. {{Developmental quotient to estimate intelligence in autism spectrum disorder}}. {Pediatr Int};2016 (Mar 2)
BACKGROUND: Autism spectrum disorders (ASD) are characterized by persistent deficits in social communication and social interaction across contexts, and are associated with restricted patterns of behavior. The developmental quotient (DQ) is a quotient based on the developmental age and chronological age of children. This study aimed to investigate the utility of the DQ to estimate cognitive ability in young children with ASD. METHODS: The DQ and intelligence quotient (IQ) were assessed using the Kyoto Scale of Psychological Development 2001 (KSPD) and Wechsler Intelligence Scale for Children-III (WISC-III), respectively. The correlation between the DQ and IQ was then analyzed among children with ASD. RESULTS: We enrolled 18 children with ASD (16 boys, 2 girls; age, 63.6 +/- 9.4 months; age range, 45-83 months). Overall, Cognitive-Adaptive and Language-Social DQ scores were significantly correlated with the IQ scores in the full, verbal, and performance domains. Full IQ and overall DQ showed a linear regression (y = -22.747 + 1.177x, R2 = 0.677, R = 0.823). CONCLUSIONS: The DQ scores obtained using the KSPD were a reasonable estimate of cognitive ability in children with ASD. The KSPD may be a useful variable alternative to the WISC-III for young children with ASD and could facilitate earlier assessment. This article is protected by copyright. All rights reserved.
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19. Kover ST, Edmunds SR, Ellis Weismer S. {{Brief Report: Ages of Language Milestones as Predictors of Developmental Trajectories in Young Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Mar 2)
Recognizing early risk markers in young children with autism spectrum disorder (ASD) is critical for timely diagnosis and intervention. The purpose of this study was to extend previous findings regarding language milestones to a longitudinal design, in which ages of expressive language milestones (i.e., first words, first phrases) could serve as predictors of developmental trajectories in a heterogeneous sample of young children with ASD (N = 98; age at first assessment: M = 32 months, SD = 5). Age of first words predicted trajectories of expressive language and adaptive skills; number of words predicted each outcome examined. Because these aspects of early language show promise as potential indicators of later functional outcomes, future research on developmental processes as they relate to individual differences will be particularly informative.
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20. Levato LE, Aponte CA, Wilkins J, Travis R, Aiello R, Zanibbi K, Loring WA, Butter E, Smith T, Mruzek DW. {{Use of urine alarms in toilet training children with intellectual and developmental disabilities: A review}}. {Res Dev Disabil};2016 (Mar 1);53-54:232-241.
The purpose of this review is to describe and evaluate the existing research on the use of urine alarms in the daytime toilet training of children with intellectual and developmental disabilities (IDD). A systematic literature search yielded 12 studies, many of which were published over a decade ago. The findings suggest that interventions that incorporate the use of urine alarms are promising in the treatment of daytime enuresis for children with IDD; however, more carefully controlled research is needed to confirm these findings and elucidate the precise role urine alarms may play in toileting interventions. Methodological strengths and limitations of the body of research are discussed.
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21. Lewis LF. {{Realizing a diagnosis of autism spectrum disorder as an adult}}. {Int J Ment Health Nurs};2016 (Mar 4)
Many individuals with autism spectrum disorder are not diagnosed until adulthood, yet little is known about their experiences. This descriptive phenomenological study aimed to explore the experience of realizing a diagnosis of autism spectrum disorder in adulthood. A purposive sample of 77 adults was asked to describe their experiences of realizing a diagnosis as adults via an open-ended online survey. Data were analysed using Colaizzi’s method and six themes were derived: feeling different from others, riding an emotional rollercoaster, striving to accept themselves, strategizing to improve their lives, maintaining normalcy, and wandering into the future. Nurses must realize the importance of screening for depression following a new diagnosis. Barriers to reaching a formal diagnosis should also be evaluated.
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22. Li P, Zhang C, Yi L. {{Brief Report: Sensitivity of Children with Autism Spectrum Disorders to Face Appearance in Selective Trust}}. {J Autism Dev Disord};2016 (Mar 2)
The current study examined how children with Autism Spectrum Disorders (ASD) could selectively trust others based on three facial cues: the face race, attractiveness, and trustworthiness. In a computer-based hide-and-seek game, two face images, which differed significantly in one of the three facial cues, were presented as two cues for selective trust. Children had to selectively trust the own-race, attractive and trustworthy faces to get the prize. Our findings demonstrate an intact ability of selective trust based on face appearance in ASD compared to typical children: they could selectively trust the informant based on face race and attractiveness. Our results imply that despite their face recognition deficits, children with ASD are still sensitive to some aspects of face appearance.
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23. Lloyd-Fox S, Blasi A, Elwell CE, Charman T, Murphy D, Johnson MH. {{Correction to ‘Reduced neural sensitivity to social stimuli in infants at risk for autism’}}. {Proc Biol Sci};2016 (Mar 16);283(1826)
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24. Marinopoulou M, Lugnegard T, Hallerback MU, Gillberg C, Billstedt E. {{Asperger Syndrome and Schizophrenia: A Comparative Neuropsychological Study}}. {J Autism Dev Disord};2016 (Mar 3)
There has been an increasing interest in possible connections between autism spectrum disorder (ASD) and schizophrenia in the last decade. Neuropsychological comparison studies have, however, been few. The present study examined similarities and differences in intellectual and executive functioning between adults with Asperger syndrome (AS) and adults with schizophrenic psychosis (SP). A group with AS and a group with SP were assessed neuropsychologically with WAIS-III and D-KEFS. Similarities were found between groups, as displayed by an uneven cognitive profile, limitations in working memory, processing speed and some aspects of executive functioning. Full Scale IQ was higher in the AS group. These results add to the current research illuminating similarities and differences between ASD and schizophrenia on a cognitive level.
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25. Marion IW, Nelson TM, Sheller B, McKinney CM, Scott JM. {{Dental stories for children with autism}}. {Spec Care Dentist};2016 (Mar 2)
PURPOSE: To investigate caregivers’ preference regarding dental stories to prepare children with autism for dental visits. METHODS: Caregivers of children with autism were allowed use of dental stories available via different media (paper, tablet computer, computer) and image types (comics or drawings, photographs, video). Caregivers completed pre- and postintervention surveys. Fisher’s exact tests were used to determine associations between predictive factors and preferences. RESULTS: Forty initial and 16 follow-up surveys were completed. Subjects were primarily male (85%). Mean child age was 6.7 years. Nine (64%) caregivers found the dental story useful for themselves and their child. Two (14%) caregivers found the aid only helpful for themselves. Preferred media type was associated with language understanding (p = .038) and home media preference (p = .002). CONCLUSIONS: Practitioners should consider using dental stories to help prepare families and children for dental visits. Individual preferences for dental stories vary; using prior history can aid in selection.
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26. McCoy SM, Jakicic JM, Gibbs BB. {{Comparison of Obesity, Physical Activity, and Sedentary Behaviors Between Adolescents With Autism Spectrum Disorders and Without}}. {J Autism Dev Disord};2016 (Mar 3)
Body mass index classification, physical activity (PA), and sedentary behaviors were compared in adolescents with autism spectrum disorder (ASD) to typically developing adolescents. Participants included 42,747 adolescents (ASD, n = 915) from the 2011-2012 National Survey of Children’s Health. After controlling for covariates, adolescents were more likely to be overweight and obese, and less likely to engage in regular PA versus typically developing adolescents (p’s < 0.05). Increased odds for overweight and obesity were attenuated after adjustment for PA. Higher autism severity was associated with increased odds of overweight and obesity and decreased odds of PA, sport, and club participation. These findings suggest adolescents with ASD are in need of targeted programs to decrease obesity and increase physical activity.
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27. Millichap JG. {{Visual Evoked Potentials in Rett Syndrome}}. {Pediatr Neurol Briefs};2015 (Oct);29(10):80.
Investigators from the Boston Children’s Hospital recorded pattern-reversal visual evoked potentials (VEPs) in Mecp2 heterozygous female mice and in 34 girls with Rett syndrome (RTT).
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28. Millichap JG. {{Risk Factors for Late Diagnosis of Rett Syndrome}}. {Pediatr Neurol Briefs};2015 (May);29(5):38.
Investigators at Emory University, Atlanta, GA; Stony Brook, New York; University of California, San Diego; and other centers determined the type of physician who makes the Rett syndrome (RTT) diagnosis and identified risk factors for delayed diagnosis.
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29. Newman LK. {{Rethinking autism}}. {Med J Aust};2016 (Mar 7);204(4):164.
30. Niinomi K, Asano M, Kadoma A, Yoshida K, Ohashi Y, Furuzawa A, Yamamoto M, Yamakita N, Mori A. {{Developing the « Skippu-Mama » program for mothers of children with autism spectrum disorder}}. {Nurs Health Sci};2016 (Mar 4)
The « Skippu-Mama » peer support program was developed to improve quality of life and reduce parental stress in mothers of children with autism spectrum disorders. The program was designed to improve these variables by refreshing and healing participants’ minds and bodies. Twenty-four mothers of 26 children diagnosed with ASD in Japan were included in the study and completed measures of quality of life and parental stress before, during, and after participation in the Skippu-Mama program. Our results demonstrated that time was a significant main effect. Further, multiple comparisons with Bonferroni corrections indicated a significant increase in World Health Organization Quality of Life 26 scores three months into the program and at its conclusion six months after commencement. Overall, the Skippu-Mama program improved the quality of life of mothers of children with ASD, and we believe that the intervention’s focus on both individual and family variables may be especially effective in this population.
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31. Rengit AC, McKowen JW, O’Brien J, Howe YJ, McDougle CJ. {{Brief Report: Autism Spectrum Disorder and Substance Use Disorder: A Review and Case Study}}. {J Autism Dev Disord};2016 (Mar 5)
There is limited literature available on the comorbidity between autism spectrum disorder (ASD) and substance use disorder (SUD). This paper reviews existing literature and exemplifies the challenges of treating this population with a case report of an adult male with ASD and DSM-5 alcohol use disorder. This review and case study seeks to illustrate risk factors which predispose individuals with ASD to developing SUD and discuss the obstacles to and modifications of evidence-based treatments for SUD. A review of the therapeutic interventions implemented in the treatment of this young male are described to highlight potential recommendations for the general management of SUD in those with ASD.
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32. Riddle K, Cascio CJ, Woodward ND. {{Brain structure in autism: a voxel-based morphometry analysis of the Autism Brain Imaging Database Exchange (ABIDE)}}. {Brain Imaging Behav};2016 (Mar 3)
Increased brain volume is a consistent finding in young children with autism spectrum disorders (ASD); however, the regional specificity and developmental course of abnormal brain structure are less clear. Small sample sizes, particularly among voxel-based morphometry (VBM) investigations, likely contribute to this difficulty. Recently established large-scale neuroimaging data repositories have helped clarify the neuroanatomy of neuropsychiatric disorders such as schizophrenia and may prove useful in ASD. Structural brain images from the Autism Brain Imaging Database Exchange (ABIDE), which contains over 1100 participants, were analyzing using DARTEL VBM to investigate total brain and tissue volumes, and regional brain structure abnormalities in ASD. Two, overlapping cohorts were analyzed; an ‘All Subjects’ cohort (n = 833) that included all individuals with usable MRI data, and a ‘Matched Samples’ cohort (n = 600) comprised of ASD and TD individuals matched, within each site, on age and sex. Total brain and grey matter volumes were enlarged by approximately 1-2 % in ASD; however, the effect reached statistical significance in only the All Subjects cohort. Within the All Subjects cohort, VBM analysis revealed enlargement of the left anterior superior temporal gyrus in ASD. No significant regional changes were detected in the Matched Samples cohort. There was a non-significant reduction in the correlation between IQ and TBV in ASD compared to TD. Brain structure abnormalities in ASD individuals age 6 and older consists of a subtle increase in total brain volume due to enlargement of grey matter with little evidence of regionally specific effects.
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33. Roy RR, Sultana GN, Begum R, Shahinuzzaman AD, Sharif MI. {{The Aspect of NK2 Transcription Factor Related Locus-5 (NKX2.5) Gene Mutations in Bangladeshi Atrial Septal Defect (ASD) patients and 2D Relationship with their Age}}. {Mymensingh Med J};2016 (Jan);25(1):79-84.
Atrial septal defect (ASD) is a developmental defect of the heart which arises from the congenital abnormality of interatrial septum that perturbs the normal blood flow. Development of the heart is a complex biological process regulated by numerous genetic and environmental factors. During this process DNA binding proteins Myocardin, NKX2.5 (NK2 Transcription Factor Related Locus-5) and GATA4 (GATA Binding Protein-4) function by binding to SRF (Serum Response Factor) which is also a key regulator of myogenic terminal differentiation and frequently results in mitogenesis. Several studies suggest that mutations in the homeodomain containing transcription factor, NKX2.5, is implicated with atrial septal defect. This cross sectional descriptive study was done to investigate the frequency of NKX2.5 gene mutations among the patient with ASD who were undergoing surgical repair at the National Institute of Cardiovascular Diseases (NICVD) and National Heart Foundation and Research Institute (NHF&RI), Dhaka from July 2010 to June 2011. Patients presented with ASD at any age of both sexes were selected as study population. We found six distinct polymorphic sites among Bangladeshi population. Among six polymorphic sites, two were located at position 487 and 495. These were present in around 80% of the affected individuals. However they were not present in control population. Our study also revealed that mutations present in the downstream sites or towards the end of the genes are restricted to older people, whereas mutations present towards the 5′ site is common to population of all ages. This interesting relationship has encouraged us to raise two new hypotheses.
34. Schonewolf-Greulich B, Tejada MI, Stephens K, Hadzsiev K, Gauthier J, Brondum-Nielsen K, Pfundt R, Ravn K, Maortua H, Gener B, Martinez-Bouzas C, Piton A, Rouleau G, Clayton-Smith J, Kleefstra T, Bisgaard AM, Tumer Z. {{The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome}}. {Clin Genet};2016 (Mar 3)
Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females the phenotype can also be influenced by the X-inactivation pattern. In this study we present detailed clinical descriptions of six patients with a rare base-pair substitution affecting Arg309 at the C-terminal end of the transcriptional repression domain (TRD). All patients have intellectual disability and present with some RTT features, but they do not fulfill the clinical criteria for typical or atypical RTT. Most of the patients also have mild facial dysmorphism. Intriguingly, the mother of an affected male patient is an asymptomatic carrier of this variant. It is therefore likely that the p.(Arg309Trp) variation does not necessarily lead to male lethality, and it results in a wide range of clinical features in females, probably influenced by different X-inactivation patterns in target tissues.
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35. Shield A, Pyers J, Martin A, Tager-Flusberg H. {{Relations between language and cognition in native-signing children with autism spectrum disorder}}. {Autism Res};2016 (Mar 3)
Two populations have been found to exhibit delays in theory of mind (ToM): deaf children of hearing parents and children with autism spectrum disorder (ASD). Deaf children exposed to sign from birth by their deaf parents, however, show no such delay, suggesting that early language exposure is key to ToM development. Sign languages also present frequent opportunities with visual perspective-taking (VPT), leading to the question of whether sign exposure could benefit children with ASD. We present the first study of children with ASD exposed to sign from birth by their deaf parents. Seventeen native-signing children with a confirmed ASD diagnosis and a chronological- and mental age-matched control group of 18 typically developing (TD) native-signing deaf children were tested on American Sign Language (ASL) comprehension, two minimally verbal social cognition tasks (ToM and VPT), and one spatial cognition task (mental rotation). The TD children outperformed the children with ASD on ASL comprehension (p < 0.0001), ToM (p = 0.02), and VPT (p < 0.01), but not mental rotation (p = 0.12). Language strongly correlated with ToM (p < 0.01) and VPT (p < 0.001), but not mental rotation (p = ns). Native exposure to sign is thus insufficient to overcome the language and social impairments implicated in ASD. Contrary to the hypothesis that sign could provide a scaffold for ToM skills, we find that signing children with ASD are unable to access language so as to gain any potential benefit sign might confer. Our results support a strong link between the development of social cognition and language, regardless of modality, for TD and ASD children. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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36. Smile S. {{Case 3: Regression in an adolescent with autism spectrum disorder}}. {Paediatr Child Health};2016 (Jan-Feb);21(1):13-14.
37. Stessman HA, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJ, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjold M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T. {{Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders}}. {Am J Hum Genet};2016 (Mar 3);98(3):541-552.
Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically heterogeneous, and a significant number of genes have been associated with both conditions. A few mutations in POGZ have been reported in recent exome studies; however, these studies do not provide detailed clinical information. We collected the clinical and molecular data of 25 individuals with disruptive mutations in POGZ by diagnostic whole-exome, whole-genome, or targeted sequencing of 5,223 individuals with neurodevelopmental disorders (ID primarily) or by targeted resequencing of this locus in 12,041 individuals with ASD and/or ID. The rarity of disruptive mutations among unaffected individuals (2/49,401) highlights the significance (p = 4.19 x 10(-13); odds ratio = 35.8) and penetrance (65.9%) of this genetic subtype with respect to ASD and ID. By studying the entire cohort, we defined common phenotypic features of POGZ individuals, including variable levels of developmental delay (DD) and more severe speech and language delay in comparison to the severity of motor delay and coordination issues. We also identified significant associations with vision problems, microcephaly, hyperactivity, a tendency to obesity, and feeding difficulties. Some features might be explained by the high expression of POGZ, particularly in the cerebellum and pituitary, early in fetal brain development. We conducted parallel studies in Drosophila by inducing conditional knockdown of the POGZ ortholog row, further confirming that dosage of POGZ, specifically in neurons, is essential for normal learning in a habituation paradigm. Combined, the data underscore the pathogenicity of loss-of-function mutations in POGZ and define a POGZ-related phenotype enriched in specific features.
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38. Sudarshan S, Gupta N, Kabra M. {{Genetic Studies in Autism}}. {Indian J Pediatr};2016 (Mar 3)
Autism is a complex neurodevelopmental disorder, which has captured the attention of not only pediatricians but also the parents. From the symptoms until the final diagnosis, parents undergo a diagnostic odyssey that involves a battery of tests without much yield. This has led to an increase in the referrals to the clinical geneticists to rule out the possible genetic etiology that can have implications for the parents for future pregnancy. This chapter focuses on the various genetic causes and their appropriate application in the evaluation of a child with Autism Spectrum Disorders (ASDs).
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39. Sun MK, Hongpaisan J, Alkon DL. {{Rescue of Synaptic Phenotypes and Spatial Memory in Young Fragile X Mice}}. {J Pharmacol Exp Ther};2016 (Mar 3)
Fragile X syndrome (FXS) is characterized by synaptic immaturity, cognitive impairment, and behavioral changes. The disorder is caused by transcriptional shutdown in neurons of the FMR1 gene product, fragile X mental retardation protein (FMRP). FMRP is a repressor of dendritic mRNA translation and its silencing leads to dysregulation of synaptically driven protein synthesis and impairments of intellect, cognition, and behavior, a disorder which currently has no effective therapeutics. Here, young fragile X mice were treated with chronic bryostatin-1, a relatively selective PKC activator, which induces synaptogenesis and synaptic maturation/repair. Chronic treatment with bryostatin-1 rescues young fragile X mice from the disorder phenotypes, including normalization of most FXS abnormalities in 1) hippocampal brain-derived neurotrophic factor (BDNF) expression, 2) the PSD-95 levels, 3) transformation of immature dendritic spines to mature synapses, 4) densities of the presynaptic and postsynaptic membranes, and 5) spatial learning and memory. The therapeutic effects were achieved without down-regulation of mGluR5 in the hippocampus and are more dramatic than those of a late-onset treatment in adult fragile X mice. The mGluR5 expression was in fact lower in fragile X mice and its expression was restored with the bryostatin-1 treatment. Our results show that synaptic and cognitive function of young FXS mice can be normalized through pharmacological treatment without down-regulation of mGluR5 and that bryostatin-1-like agents may represent a novel class of drugs to treat fragile X mental retardation at a young age and in adults.
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40. Takata A, Ionita-Laza I, Gogos JA, Xu B, Karayiorgou M. {{De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia}}. {Neuron};2016 (Mar 2);89(5):940-947.
We analyze de novo synonymous mutations identified in autism spectrum disorders (ASDs) and schizophrenia (SCZ) with potential impact on regulatory elements using data from whole-exome sequencing (WESs) studies. Focusing on five types of genetic regulatory functions, we found that de novo near-splice site synonymous mutations changing exonic splicing regulators and those within frontal cortex-derived DNase I hypersensitivity sites are significantly enriched in ASD and SCZ, respectively. These results remained significant, albeit less so, after incorporating two additional ASD datasets. Among the genes identified, several are hit by multiple functional de novo mutations, with RAB2A and SETD1A showing the highest statistical significance in ASD and SCZ, respectively. The estimated contribution of these synonymous mutations to disease liability is comparable to de novo protein-truncating mutations. These findings expand the repertoire of functional de novo mutations to include « functional » synonymous ones and strengthen the role of rare variants in neuropsychiatric disease risk.
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41. Tao Y, Gao H, Ackerman B, Guo W, Saffen D, Shugart YY. {{Evidence for contribution of common genetic variants within chromosome 8p21.2-8p21.1 to restricted and repetitive behaviors in autism spectrum disorders}}. {BMC Genomics};2016;17(1):163.
BACKGROUND: Restricted and Repetitive Behaviors (RRB), one of the core symptom categories for Autism Spectrum Disorders (ASD), comprises heterogeneous groups of behaviors. Previous research indicates that there are two or more factors (subcategories) within the RRB domain. In an effort to identify common variants associated with RRB, we have carried out a genome-wide association study (GWAS) using the Autism Genetic Resource Exchange (AGRE) dataset (n = 1,335, all ASD probands of European ancestry) for each identified RRB subcategory, while allowing for comparisons of associated single nucleotide polymorphisms (SNPs) with associated SNPs in the same set of probands analyzed using all the RRB subcategories as phenotypes in a multivariate linear mixed model. The top ranked SNPs were then explored in an independent dataset. RESULTS: Using principal component analysis of item scores obtained from Autism Diagnostic Interview-Revised (ADI-R), two distinct subcategories within Restricted and Repetitive Behaviors were identified: Repetitive Sensory Motor (RSM) and Insistence on Sameness (IS). Quantitative RSM and IS scores were subsequently used as phenotypes in a GWAS using the AGRE ASD cohort. Although no associated SNPs with genome-wide significance (P < 5.0E-08) were detected when RSM or IS were analyzed independently, three SNPs approached genome-wide significance when RSM and IS were considered together using multivariate association analysis. These included the top IS-associated SNP, rs62503729 (P-value = 6.48E-08), which is located within chromosome 8p21.2-8p21.1, a locus previously linked to schizophrenia. Notably, all of the most significantly associated SNPs are located in close proximity to STMN4 and PTK2B, genes previously shown to function in neuron development. In addition, several of the top-ranked SNPs showed correlations with STMN4 mRNA expression in adult CEU (Caucasian and European descent) human prefrontal cortex. However, the association signals within chromosome 8p21.2-8p21.1 failed to replicate in an independent sample of 2,588 ASD probands; the insufficient sample size and between-study heterogeneity are possible explanations for the non-replication. CONCLUSIONS: Our analysis indicates that RRB in ASD can be represented by two distinct subcategories: RSM and IS. Subsequent univariate and multivariate genome-wide association studies of these RRB subcategories enabled the detection of associated SNPs at 8p21.2-8p21.1. Although these results did not replicate in an independent ASD dataset, genomic features of this region and pathway analysis suggest that common variants in 8p21.2-8p21.1 may contribute to RRB, particularly IS. Together, these observations warrant future studies to elucidate the possible contributions of common variants in 8p21.2-8p21.1 to the etiology of RSM and IS in ASD. Lien vers le texte intégral (Open Access ou abonnement)
42. Yasuda Y, Hashimoto R, Nakae A, Kang H, Ohi K, Yamamori H, Fujimoto M, Hagihira S, Takeda M. {{Sensory cognitive abnormalities of pain in autism spectrum disorder: a case-control study}}. {Ann Gen Psychiatry};2016;15:8.
BACKGROUND: The Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) recently included sensory processing abnormalities in the diagnostic criteria for individuals with autism spectrum disorder (ASD). However, there is no standard method for evaluating sensory abnormalities in individuals with ASD. METHODS: Fifteen individuals with ASD and 15 age- and sex-matched controls were enrolled in this study. We compared objective pain sensitivity by measuring the pain detection threshold and pain tolerance to three different stimuli (electricity, heat, and cold). Then, we compared both subjective pain sensitivity, assessed by the visual analog scale (VAS), and quality of pain, assessed by the short-form McGill Pain Questionnaire (SF-MPQ), to determine the maximum tolerable pain intensities of each stimulation. RESULTS: The pain detection threshold and pain tolerance of individuals with ASD were not impaired, indicating that there were no differences in the somatic perception of pain between groups. However, individuals with ASD were hyposensitive to subjective pain intensity compared to controls (VAS; electrical: p = 0.044, cold: p = 0.011, heat: p = 0.042) and hyposensitive to affective aspects of pain sensitivity (SF-MPQ; electrical: p = 0.0071, cold: p = 0.042). CONCLUSIONS: Our results suggest that the cognitive pathways for pain processing are impaired in ASD and, furthermore, that our methodology can be used to assess pain sensitivity in individuals with ASD. Further investigations into sensory abnormalities in individuals with ASD are needed to clarify the pathophysiologic processes that may alter sensory processing in this disorder.
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43. Yee MM, Millichap JG. {{Relationship between Age at Diagnosis of ADHD and ASD}}. {Pediatr Neurol Briefs};2015 (Oct);29(10):78.
Investigators from the Division of Developmental Medicine and Clinical Research Center, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, studied the relationship between the timing of Attention Deficit Hyperactivity Disorder (ADHD) diagnosis in children with Autism Spectrum Disorder (ASD) and the age at ASD diagnosis.
