Autisme Information Science

02 avril 2017

Étude de validité analytique et clinique de FirstStepDx PLUS: une biopuce chromosomique optimisée pour les patients avec des troubles du développement neurologique

Aperçu: G.M.

L'analyse de biopuce chromosomique (CMA) est reconnue comme le test de premier niveau dans l'évaluation génétique des enfants présentant des retards de développement, des troubles intellectuels, des anomalies congénitales et des troubles du spectre de l'autisme d'étiologie inconnue.

L'étude propose des données démontrant la validité analytique et clinique de FSDX et fournit un aperçu des résultats des 7 500 premiers patients consécutifs testés cliniquement.

Il est en outre démontré que l'échantillonnage buccal est une méthode efficace d'obtention d'échantillons d'ADN, ce qui peut fournir des résultats améliorés par rapport à l'échantillonnage sanguin traditionnel chez les patients souffrant de troubles neurodéveloppementaux.

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2017 Feb 27;9. pii: ecurrents.eogt.7d92ce775800ef3fbc72e3840fb1bc22. doi: 10.1371/currents.eogt.7d92ce775800ef3fbc72e3840fb1bc22.

Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions

Hensel C¹, Vanzo R², Martin M¹, Dixon S³, Lambert C⁴, Levy B⁵, Nelson L⁶, Peiffer A⁷, Ho KS⁷, Rushton P¹, Serrano M¹, South S⁸, Ward K⁶, Wassman E¹.

Author information

1: Lineagen, Inc., Salt Lake City, Utah, USA.
2: Clinical Genetic Services, Lineagen, Inc., Salt Lake City, Utah, USA.
3: Operations, Lineagen, Inc., Salt Lake City, Utah, USA.
4: Department of Internal Medicine, Center for Global Health, Division of Translational Informatics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA.
5: Department of Pathology & Cell Biology, Columbia University Medical Center, New York, New York, USA.
6: Affiliated Genetics Laboratory, Inc., Salt Lake City, Utah, USA.
7: Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA; Lineagen, Inc., Salt Lake City, Utah, USA.
8: ARUP Laboratories, Salt Lake City, Utah, USA; 23andMe, Inc., Mountain View, California, USA.

Abstract

INTRODUCTION:

Chromosomal microarray analysis (CMA) is recognized as the first-tier test in the genetic evaluation of children with developmental delays, intellectual disabilities, congenital anomalies and autism spectrum disorders of unknown etiology.

ARRAY DESIGN:

To optimize detection of clinically relevant copy number variants associated with these conditions, we designed a whole-genome microarray, FirstStep^Dx PLUS (FSDX). A set of 88,435 custom probes was added to the Affymetrix CytoScanHD platform targeting genomic regions strongly associated with these conditions. This combination of 2,784,985 total probes results in the highest probe coverage and clinical yield for these disorders.

RESULTS AND DISCUSSION:

Clinical testing of this patient population is validated on DNA from either non-invasive buccal swabs or traditional blood samples. In this report we provide data demonstrating the analytic and clinical validity of FSDX and provide an overview of results from the first 7,570 consecutive patients tested clinically. We further demonstrate that buccal sampling is an effective method of obtaining DNA samples, which may provide improved results compared to traditional blood sampling for patients with neurodevelopmental disorders who exhibit somatic mosaicism.

PMID: 28357155
PMCID: PMC5346028
DOI: 10.1371/currents.eogt.7d92ce775800ef3fbc72e3840fb1bc22

*Modifications des dendrites et des épines dendritiques dans l'autisme et les troubles neurodéveloppementaux dans les modèles humains et animaux

Aperçu: G.M.

Les dendrites et les épines dendritiques sont les principales structures neuronales qui reçoivent l'apport d'autres neurones et des cellules gliales. Le nombre, la taille et la morphologie de la dendritie et de l'épine dendritique sont certains des facteurs cruciaux qui déterminent comment les signaux provenant des synapses individuelles sont intégrés.

Dans l'ensemble, les données obtenues à partir de modèles humains et animaux indiquent une réduction généralisée de la taille et du nombre, ainsi qu'une altération de la morphologie des dendrites; Et une augmentation de la densité des épines dendritiques avec une morphologie immature, ce qui indique un état général d'immaturité des épines dendritiques dans l'autisme.

2017 Apr;77(4):393-404. doi: 10.1002/dneu.22417. Epub 2016 Aug 30.

Dendrite and spine modifications in autism and related neurodevelopmental disorders in patients and animal models

Martínez-Cerdeño V^1,^2,³.

Author information

1: Department of Pathology and Laboratory Medicine, UC Davis, Sacramento, California.
2: Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children Northern California, North California, Sacramento, California.
3: MIND Institute, UC Davis School of Medicine, Sacramento, California.

Abstract

Dendrites and spines are the main neuronal structures receiving input from other neurons and glial cells. Dendritic and spine number, size, and morphology are some of the crucial factors determining how signals coming from individual synapses are integrated. Much remains to be understood about the characteristics of neuronal dendrites and dendritic spines in autism and related disorders. Although there have been many studies conducted using autism mouse models, few have been carried out using postmortem human tissue from patients. Available animal models of autism include those generated through genetic modifications and those non-genetic models of the disease. Here, we review how dendrite and spine morphology and number is affected in autism and related neurodevelopmental diseases, both in human, and genetic and non-genetic animal models of autism. Overall, data obtained from human and animal models point to a generalized reduction in the size and number, as well as an alteration of the morphology of dendrites; and an increase in spine densities with immature morphology, indicating a general spine immaturity state in autism. Additional human studies on dendrite and spine number and morphology in postmortem tissue are needed to understand the properties of these structures in the cerebral cortex of patients with autism. © 2016 Wiley Periodicals, Inc. Develop Neurobiol 77: 419-437, 2017.

PMID: 27390186
PMCID: PMC5219951 [Available on 2018-04-01]
DOI: 10.1002/dneu.22417

L'attention visuelle de bas niveau et sa relation à l'attention conjointe dans le trouble du spectre de l'autisme

Aperçu: G.M.

L'attention visuelle fait partie intégrante de l'interaction sociale et constitue un élément essentiel du développement dans d'autres domaines (par exemple, le langage). En outre, l'attention atypique (en particulier l'attention conjointe) est l'un des premiers marqueurs du trouble du spectre de l'autisme.

Les résultats de l'étude indiquent une difficulté à surmonter des indices d'attention incorrects dans les TSA, en particulier avec les indices non sociaux (flèche) par rapport aux indices sociaux (visage).

Les résultats montrent également une émulation réduite dans le TSA à partir de repères qui restent à l'écran.

En outre, l'attention sociale, la sévérité de l'autisme et l'âge étaient tous des prédicteurs du traitement du signal conccurentiel.

Les résultats suggèrent que les personnes avec un diagnostic de TSA peuvent victime d'un biais vers une réponse rapide plutôt que précise, et en outre, que l'engagement réduit avec l'information visuelle peut entraver les réponses aux indices d'attention visuelle.

Une fois l'attention engagée, les personnes avec un diagnostic de TSA semblent interpréter les indices directionnels comme significatifs.

2017 Apr;23(3):316-331. doi: 10.1080/09297049.2015.1104293. Epub 2015 Nov 15.

Low-level visual attention and its relation to joint attention in autism spectrum disorder

Jaworski JL¹, Eigsti IM¹.

Author information

1: a Department of Psychology , University of Connecticut , Storrs , CT , USA.

Abstract

Visual attention is integral to social interaction and is a critical building block for development in other domains (e.g., language). Furthermore, atypical attention (especially joint attention) is one of the earliest markers of autism spectrum disorder (ASD). The current study assesses low-level visual attention and its relation to social attentional processing in youth with ASD and typically developing (TD) youth, aged 7 to 18 years. The findings indicate difficulty overriding incorrect attentional cues in ASD, particularly with non-social (arrow) cues relative to social (face) cues. The findings also show reduced competition in ASD from cues that remain on-screen. Furthermore, social attention, autism severity, and age were all predictors of competing cue processing. The results suggest that individuals with ASD may be biased towards speeded rather than accurate responding, and further, that reduced engagement with visual information may impede responses to visual attentional cues. Once attention is engaged, individuals with ASD appear to interpret directional cues as meaningful. These findings from a controlled, experimental paradigm were mirrored in results from an ecologically valid measure of social attention. Attentional difficulties may be exacerbated during the complex and dynamic experience of actual social interaction. Implications for intervention are discussed.

PMID: 26568142
DOI: 10.1080/09297049.2015.1104293

Troubles du spectre de l'autisme: défis et opportunités pour la transition vers l'âge adulte.Troubles du spectre de l'autisme: défis et opportunités pour la transition vers l'âge adulte

Aperçu: G.M.

Les résultats améliorés pour les personnes avec un diagnostic de trouble1 du spectre de l'autisme (TSA) ont ouvert une gamme de voies potentielles pour la transition vers l'âge adulte.

Il s'agit notamment d'aller au collège, d'entrer dans la population active et d'obtenir un degré de vie autonome. Les personnes "avec moins de capacités cognitives" peuvent être admissibles aux prestations de l'État et peuvent participer à des programmes d'emploi soutenus.

Celles qui fréquente le collège ont besoin d'un soutien et d'une planification minutieux. Les praticiens doivent se familiariser avec les besoins uniques des jeunes adultes avec un diagnostic de TSA.

2017 Apr;26(2):329-339. doi: 10.1016/j.chc.2016.12.013.

Autism Spectrum Disorders: Challenges and Opportunities for Transition to Adulthood

van Schalkwyk GI¹, Volkmar FR².

Author information

1: Child Study Center, Yale University School of Medicine, New Haven, CT, USA.
2: Child Study Center, Yale University School of Medicine, New Haven, CT, USA. Electronic address: fred.volkmar@yale.edu

Abstract

Improved outcomes for individuals with autism spectrum disorder (ASD) have opened a range of potential pathways during the transition to adulthood. These include attending college, entering the labor force, and achieving a degree of independent living. Less cognitively able individuals may be eligible for state benefits and may enter supported employment programs. Those attending college require careful support and planning. Practitioners need to be familiar with the unique needs of young adults with ASD. Further research should attempt to define the priorities of individuals and families with ASD making this transition and clarify the value of existing supports and interventions.

PMID: 28314459
DOI: 10.1016/j.chc.2016.12.013

Accords et désaccords entre les enfants et leurs parents dans les évaluations liées à la santé

Aperçu: G.M.

Les divergences entre les rapports entre les enfants et les parents semblent refléter leurs différents points de vue et non seulement une inexactitude ou un biais.

En général, les parents considèrent que leurs enfants ont plus de difficultés que les enfants eux-mêmes pensent avoir. Les perspectives de l'enfant et de ses parents devraient être recherchées chaque fois que cela est possible, car les deux constituent des informations importantes concernant la santé et le bien-être de l'enfant.

2017 Jun;39(11):1059-1072. doi: 10.1080/09638288.2016.1189603. Epub 2016 Jun 13.

Agreements and disagreements between children and their parents in health-related assessments

Hemmingsson H¹, Ólafsdóttir LB², Egilson ST².

Author information

1: a Department of Social and Welfare Studies , Linköping University , Linköping , Sweden.
2: b Faculty of Social and Human Sciences , University of Iceland , Reykjavik , Iceland.

Abstract

PURPOSE:

To systematically review research concerning parent-child agreement in health-related assessments to reveal overall agreement, directions of agreement, and the factors that affect agreement in ratings.

METHOD:

The Uni-Search and five additional databases were searched. Children's health issues were grouped into psychosocial issues including autism and ADHD, and physical and performance issues including pain. Measures used for comparison were those addressing (a) psychosocial functioning, (b) physical and performance functioning, and (c) health-related quality of life.

RESULTS:

Totally, 39 studies met the inclusion criteria, comprising 44 analyses in all since four studies contained more than one analyses. Moderate child-parent agreement was demonstrated in 23 analyses and poor agreement in 20 analyses. Several analyses found more agreement on observable/external than on non-observable/internal domains. Overall, parents considered their children had more difficulties than did the children themselves, although there were indications that for children with physical performance issues, parents may underreport their children's difficulties in emotional functioning and pain. There were no consistencies in differences between children's and parent's ratings on levels of agreement with respect to the children's health issue, age or gender.

CONCLUSIONS:

Discrepancies between child and parent reports seem to reflect their different perspectives and not merely inaccuracy or bias. Implications for Rehabilitation In general, parents consider their children to have more difficulties - or more extensive difficulties - than the children themselves think they have. The perspectives of the child and his or her parents should be sought whenever possible since both constitute important information concerning the child´s health and well-being. Children with physical and performance issues reported more difficulties than their parents concerning the children's emotional functioning and pain. Clinicians should prioritize obtaining children's views on subjective aspects such as emotional issues as well as on pain.

PMID: 27291406
DOI: 10.1080/09638288.2016.1189603

01 avril 2017

Microarchitecture osseuse chez les adolescents avec un diagnostic de trouble de spectre de l'autisme

Aperçu: G.M.

Les garçons avec un diagnostic de trouble du spectre de l'autisme (TSA) ont une densité minérale osseuse inférieure (aBMD) à celle généralement des témoins au développement typique (TDC).

Les paramètres microarchitecturaux des os sont altérés dans le TSA, avec des réductions des estimations de la force osseuse (rigidité et charge de défaillance) au radius ultradistal et au tibia distal. Cela peut résulter d'une activité physique et d'une consommation de calcium réduite , et d'une diminution de la réactivité de l'IGF-1

2017 Apr;97:139-146. doi: 10.1016/j.bone.2017.01.009. Epub 2017 Jan 11.

Bone microarchitecture in adolescent boys with autism spectrum disorder

Neumeyer AM¹, Cano Sokoloff N², McDonnell E³, Macklin EA⁴, McDougle CJ⁵, Misra M⁶.

Author information

1: Lurie Center for Autism, Massachusetts General Hospital, Lexington, MA 02421, United States; Harvard Medical School, Boston, MA 02115, United States. Electronic address: aneumeyer@mgh.harvard.edu.
2: Lurie Center for Autism, Massachusetts General Hospital, Lexington, MA 02421, United States.
3: Biostatistics Center, Massachusetts General Hospital, Boston, MA 02114, United States.
4: Harvard Medical School, Boston, MA 02115, United States; Biostatistics Center, Massachusetts General Hospital, Boston, MA 02114, United States.
5: Lurie Center for Autism, Massachusetts General Hospital, Lexington, MA 02421, United States; Harvard Medical School, Boston, MA 02115, United States.
6: Harvard Medical School, Boston, MA 02115, United States; Pediatric Endocrine and Neuroendocrine Units, Massachusetts General Hospital, Boston, MA 02114, United States.

Abstract

BACKGROUND:

Boys with autism spectrum disorder (ASD) have lower areal bone mineral density (aBMD) than typically developing controls (TDC). Studies of volumetric BMD (vBMD) and bone microarchitecture provide information about fracture risk beyond that provided by aBMD but are currently lacking in ASD.

OBJECTIVES:

To assess ultradistal radius and distal tibia vBMD, bone microarchitecture and strength estimates in adolescent boys with ASD compared to TDC.

DESIGN/METHODS:

Cross-sectional study of 34 boys (16 ASD, 18 TDC) that assessed (i) aBMD at the whole body (WB), WB less head (WBLH), hip and spine using dual X-ray absorptiometry (DXA), (ii) vBMD and bone microarchitecture at the ultradistal radius and distal tibia using high-resolution peripheral quantitative CT (HRpQCT), and (iii) bone strength estimates (stiffness and failure load) using micro-finite element analysis (FEA). We controlled for age in all groupwise comparisons of HRpQCT and FEA measures. Activity questionnaires, food records, physical exam, and fasting levels of 25(OH) vitamin D and bone markers (C-terminal collagen crosslinks and N-terminal telopeptide (CTX and NTX) for bone resorption, N-terminal propeptide of Type 1 procollagen (P1NP) for bone formation) were obtained.

RESULTS:

ASD participants were slightly younger than TDC participants (13.6 vs. 14.2years, p=0.44). Tanner stage, height Z-scores and fasting serum bone marker levels did not differ between groups. ASD participants had higher BMI Z-scores, percent body fat, IGF-1 Z-scores, and lower lean mass and aBMD Z-scores than TDC at the WB, WBLH, and femoral neck (P<0.1). At the radius, ASD participants had lower trabecular thickness (0.063 vs. 0.070mm, p=0.004), compressive stiffness (56.7 vs. 69.7kN/mm, p=0.030) and failure load (3.0 vs. 3.7kN, p=0.031) than TDC. ASD participants also had 61% smaller cortical area (6.6 vs. 16.4mm², p=0.051) and thickness (0.08 vs. 0.22mm, p=0.054) compared to TDC. At the tibia, ASD participants had lower compressive stiffness (183 vs. 210kN/mm, p=0.048) and failure load (9.4 vs. 10.8kN, p=0.043) and 23% smaller cortical area (60.3 vs. 81.5mm², p=0.078) compared to TDC. A lower proportion of ASD participants were categorized as "very physically active" (20% vs. 72%, p=0.005). Differences in physical activity, calcium intake and IGF-1 responsiveness may contribute to group differences in stiffness and failure load.

CONCLUSION:

Bone microarchitectural parameters are impaired in ASD, with reductions in bone strength estimates (stiffness and failure load) at the ultradistal radius and distal tibia. This may result from lower physical activity and calcium intake, and decreased IGF-1 responsiveness.

PMID: 28088646
DOI: 10.1016/j.bone.2017.01.009

L'âge paternel et les troubles psychiatriques: revue

Aperçu: G.M.

L'âge paternel avancé par rapport aux troubles du spectre de l'autisme et à la schizophrénie a fourni les preuves épidémiologiques les plus robustes d'une association.

2017 Apr;174(3):202-213. doi: 10.1002/ajmg.b.32508. Epub 2016 Oct 22.

Paternal age and psychiatric disorders: A review

de Kluiver H^1,², Buizer-Voskamp JE³, Dolan CV^1,², Boomsma DI^1,^2,⁴.

Author information

1: Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
2: EMGO+ Institute for Health and Care Research, Amsterdam, The Netherlands.
3: Department of Social and Behavioral Sciences, Utrecht University, Utrecht, The Netherlands.
4: Neuroscience Campus Amsterdam, Amsterdam, The Netherlands.

Abstract

We review the hypotheses concerning the association between the paternal age at childbearing and childhood psychiatric disorders (autism spectrum- and attention deficit/hyperactive disorder) and adult disorders (schizophrenia, bipolar-, obsessive-compulsive-, and major depressive disorder) based on epidemiological studies. Several hypotheses have been proposed to explain the paternal age effect. We discuss the four main-not mutually exclusive-hypotheses. These are the de novo mutation hypothesis, the hypothesis concerning epigenetic alterations, the selection into late fatherhood hypothesis, and the environmental resource hypothesis. Advanced paternal age in relation to autism spectrum disorders and schizophrenia provided the most robust epidemiological evidence for an association, with some studies reporting a monotonic risk increase over age, and others reporting a marked increase at a given age threshold. Although there is evidence for the de novo mutation hypothesis and the selection into late fatherhood hypothesis, the mechanism(s) underlying the association between advanced paternal age and psychiatric illness in offspring remains to be further clarified. © 2016 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc.

PMID: 27770494
DOI: 10.1002/ajmg.b.32508

Implications des groupes sociaux sur le comportement sédentaire des enfants avec un diagnostic de TSA: une étude pilote

Aperçu: G.M.

Cette étude pilote a comparé le comportement sédentaire (SB) des enfants avec un diagnostic de trouble du spectre de l'autisme (TSA) à ceux des pairs au développement typique (TD) et a évalué l'influence des contextes sociaux dans le jeu libre (JL) et les paramètres d'activité organisées sur les SB des enfants avec TSA pendant une période d'inclusion dans un camp d'été.

Le SB n'a pas différé selon le diagnostic (TSA, TD), le contexte ou les contextes sociaux.

En JL, les enfants avec TSA ont consacré beaucoup plus de temps dans le SB dans les contextes sociaux par rapport aux contextes solitaires. Les déficits sociaux liés au TSA peuvent faciliter le SB chez les enfants avec TSA dans les contextes sociaux de temps libre du camp d'été, par rapport à un contexte solitaire.

2017 Apr;47(4):1223-1230. doi: 10.1007/s10803-017-3037-0.

Implications of Social Groups on Sedentary Behavior of Children with Autism: A Pilot Study

Schenkelberg MA¹, Rosenkranz RR², Milliken GA³, Menear K⁴, Dzewaltowski DA⁵.

Author information

1: Department of Exercise Science, Arnold School of Public Health, University of South Carolina, 921 Assembly Street, Suite 212, Columbia, SC, 29208, USA. schenkm@email.sc.edu.
2: Department of Food, Nutrition, Dietetics & Health, Kansas State University, Manhattan, KS, USA.
3: Department of Statistics, Kansas State University, Manhattan, KS, USA.
4: Department of Human Studies, University of Alabama at Birmingham, Birmingham, AL, USA.
5: Department of Health Promotion, Social & Behavioral Health, College of Public Health, University of Nebraska Medical Center & Buffett Early Childhood Institute, Omaha, NE, USA.

Abstract

This pilot study compared sedentary behavior (SB) of children with autism (ASD) to typically developing peers (TD), and evaluated the influence of social contexts within free play (FP) and organized activity settings on SB of children with ASD during an inclusive summer camp. Participants with ASD were matched with TD peers by age and gender, and a modified OSRAC-P was utilized to assess SB and social context by setting. SB did not differ by diagnosis (ASD, TD), setting, or social contexts. In FP, children with ASD spent significantly more time in SB within social contexts compared to solitary contexts. ASD-related social deficits may facilitate SB in children with ASD during summer camp FP social contexts, compared to a solitary context.

PMID: 28181052
DOI: 10.1007/s10803-017-3037-0

La perception de l'émotion médite la relation prédictive entre la capacité verbale et les résultats fonctionnels chez les adultes avec un diagnostic de trouble du spectre de l'autisme avec un haut niveau de fonctionnement cognitif

Aperçu: G.M

L'objectif de cette étude était d'identifier des capacités cognitives spécifiques qui prédisent les résultats fonctionnels chez les adultes ayant un diagnostic de trouble du spectre de l'autisme (TSA) et de clarifier la contribution de ces aptitudes et de leurs relations.

Les analyses de régression ont révélé que la perception de l'émotion et la générabilité verbale prédisaient directement le fonctionnement adaptatif. Les interventions psychosociales ciblant ces capacités cognitives pourraient bénéficier à l'adaptation sociale chez les adultes

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2017 Apr;47(4):1166-1182. doi: 10.1007/s10803-017-3036-1.

Emotion Perception Mediates the Predictive Relationship Between Verbal Ability and Functional Outcome in High-Functioning Adults with Autism Spectrum Disorder

Otsuka S^1,², Uono S³, Yoshimura S³, Zhao S^4,⁵, Toichi M^4,⁶.

Author information

1: Faculty of Human Health Sciences, Graduate School of Medicine, Kyoto University, 53 Shogoin Kawahara-cho, Sakyo-ku, Kyoto, 606-8507, Japan. o2ka.psycho@gmail.com
2: The Organization for Promoting Neurodevelopmental Disorder Research (OPNDR), 40 Shogoin Sanno-cho, Sakyo-ku, Kyoto, 606-8392, Japan. o2ka.psycho@gmail.com.
3: Department of Neurodevelopmental Psychiatry, Habilitation and Rehabilitation, Faculty of Human Health Sciences, Graduate School of Medicine, Kyoto University, 53 Shogoin Kawahara-cho, Sakyo-ku, Kyoto, 606-8507, Japan.
4: Faculty of Human Health Sciences, Graduate School of Medicine, Kyoto University, 53 Shogoin Kawahara-cho, Sakyo-ku, Kyoto, 606-8507, Japan.
5: International Research Fellow of the Japan Society for the Promotion of Science (JSPS), 5-3-1, Kojimachi, Chiyoda-ku, 102-0083, Tokyo, Japan.
6: The Organization for Promoting Neurodevelopmental Disorder Research (OPNDR), 40 Shogoin Sanno-cho, Sakyo-ku, Kyoto, 606-8392, Japan.

Abstract

The aim of this study was to identify specific cognitive abilities that predict functional outcome in high-functioning adults with autism spectrum disorder (ASD), and to clarify the contribution of those abilities and their relationships. In total, 41 adults with ASD performed cognitive tasks in a broad range of neuro- and social cognitive domains, and information concerning functional outcomes was obtained. Regression analyses revealed that emotion perception and verbal generativity predicted adaptive functioning directly, and the former mediated between the other two. These findings provide the first evidence of a triadic relationship among neuro- and social cognition and functional outcome in this population. Our results suggest that psychosocial interventions targeting these cognitive abilities could benefit social adaptation in adults with ASD.

KEYWORDS:

Adaptive behavior; Autism spectrum disorder (ASD); Emotion recognition; Predictor; Social cognition; Social functioning

PMID: 28194554

DOI: 10.1007/s10803-017-3036-1

Les propriétés psychométriques d'une nouvelle mesure des comportements sensoriels chez les enfants autistes

Aperçu: G.M.

Les réactions inhabituelles à l'input sensoriel font partie des critères diagnostiques du trouble du spectre de l'autisme dans le DSM-5.

L'étude a examiné la fiabilité et la validité du Sensory Behavior Questionnaire, une échelle de rapport parental conçue pour évaluer la fréquence et l'impact des comportements sensoriels chez les enfants autistes. L'échelle a montré une excellente cohérence interne et une validité concurrente, et était un meilleur prédicteur des symptômes autistiques que le profil sensoriel court dans un groupe de 66 enfants autistes. L'échelle a également discriminée avec succès les enfants autistes et typiques d'âge et de capacité similaires.

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2017 Apr;47(4):1261-1268. doi: 10.1007/s10803-016-3018-8.

The Psychometric Properties of a New Measure of Sensory Behaviors in Autistic Children

Neil L¹, Green D², Pellicano E^3,⁴.

Author information

1: Centre for Research in Autism and Education (CRAE), UCL Institute of Education, University College London, 55-59 Gordon Square, London, WC1H 0NU, UK.
2: Centre for Rehabilitation, Oxford Brookes University, Oxford, UK.
3: Centre for Research in Autism and Education (CRAE), UCL Institute of Education, University College London, 55-59 Gordon Square, London, WC1H 0NU, UK. l.pellicano@ucl.ac.uk
4: School of Psychology, University of Western Australia, Perth, Australia. l.pellicano@ucl.ac.uk.

Abstract

Unusual reactions to sensory input became part of the diagnostic criteria for autism spectrum disorder in the DSM-5. Measures accurately assessing these symptoms are important for clinical decisions. This study examined the reliability and validity of the Sensory Behavior Questionnaire, a parent-report scale designed to assess frequency and impact of sensory behaviors in autistic children. The scale demonstrated excellent internal consistency and concurrent validity, and was a better predictor of autistic symptoms than the Short Sensory Profile within a group of 66 school-age autistic children. The scale also successfully discriminated between autistic and typical children of similar age and ability. The Sensory Behavior Questionnaire has potential as a measure of sensory behaviors in children on the autism spectrum.

PMID: 28213836
DOI: 10.1007/s10803-016-3018-8

Un modèle de cheminement des habiletés de vocabulaire expressif chez les enfants d'âge préscolaire initialement pré-verbaux avec trouble du spectre de l'autre

Aperçu: G.M.

L'étude a examiné les voies directes et indirectes impliquant le vocabulaire réceptif et la diversité des consonnes clés utilisées dans la communication (DKCC) pour mieux comprendre pourquoi les prédicteurs de valeur ajoutée précédemment identifiés sont associés au vocabulaire expressif ultérieur chez les enfants initialement pré-verbaux avec un diagnostic de trouble du spectre de l'autisme.

DKCC a dirigé l'association entre la communication intentionnelle et le vocabulaire expressif. Des recherches supplémentaires sont nécessaires pour reproduire les résultats, tester les relations potentiellement causales et fournir une séquence spécifique de cibles d'intervention pour les enfants pré-verbaux avec un diagnostic de TSA.

2017 Apr;47(4):947-960. doi: 10.1007/s10803-016-3016-x.

A Path Model of Expressive Vocabulary Skills in Initially Preverbal Preschool Children with Autism Spectrum Disorder

McDaniel J¹, Yoder P², Watson LR³.

Author information

1: Department of Hearing and Speech Sciences, Vanderbilt University, 1215 21st Avenue South, MCE 8310, South Tower, Nashville, TN, 37232, USA. jena.c.mcdaniel@vanderbilt.edu
2: Department of Special Education, Vanderbilt University, Nashville, TN, USA.
3: Division of Speech and Hearing Sciences, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Abstract

We examined direct and indirect paths involving receptive vocabulary and diversity of key consonants used in communication (DKCC) to improve understanding of why previously identified value-added predictors are associated with later expressive vocabulary for initially preverbal children with autism spectrum disorder (ASD; n = 87). Intentional communication, DKCC, and parent linguistic responses accounted for unique variance in later expressive vocabulary when controlling for mid-point receptive vocabulary, but responding to joint attention did not. We did not confirm any indirect paths through mid-point receptive vocabulary. DKCC mediated the association between intentional communication and expressive vocabulary. Further research is needed to replicate the findings, test potentially causal relations, and provide a specific sequence of intervention targets for preverbal children with ASD.

PMID: 28251393
DOI: 10.1007/s10803-016-3016-x

Problèmes d'alimentation et apport en nutriments chez les enfants avec et sans TSA : une étude comparative

Aperçu: G.M.

L'étude compare les difficultés alimentaires et l'adéquation nutritionnelle rapportées par les parents d'enfants avec un diagnostic de trouble du spectre de l'autisme (TSA) à celles d'enfants au développement typique de même âge et de même milieu socio-économique.

Par rapport aux enfants du groupe contrôle, les enfants avec un diagnostic de TSA ont consommé un plus petit nombre d'aliments (P = 0,022), en particulier les fruits (P = 0,004), les légumes (P = 0,011) et les protéines (P = 0,015); Ils ont eu une consommation quotidienne nettement plus élevée de potassium (P = 0,001), de cuivre (P = 0,007) et d'acide folique (P = 0,001).

2017 Apr;84(4):283-288. doi: 10.1007/s12098-016-2285-x. Epub 2017 Jan 12.

Feeding Problems and Nutrient Intake in Children with and without Autism: A Comparative Study

Malhi P¹, Venkatesh L², Bharti B², Singhi P²

Author information

1: Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Sector 12, Chandigarh, 160012, India. pmalhi18@hotmail.com.
2: Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Sector 12, Chandigarh, 160012, India.

Abstract

OBJECTIVE:

To compare parent reported feeding difficulties and nutritional adequacy of children with Autism Spectrum Disorders (ASD) to an age and socio-economically matched group of typically developing children.

METHODS:

The scores on Children's Eating Behavior Inventory (CEBI), three-day food records, anthropometric measures and adequacy of micro- and macro- nutrients were compared for 63 children diagnosed with ASD and 50 typically developing children enrolled from the department of pediatrics of a tertiary care teaching hospital from North India.

RESULTS:

The majority (79%) of the parents of ASD children reported some concern regarding their feeding behavior as compared to 64% of the parents of typically developing children. As compared to controls, ASD children had significantly higher CEBI scores (97.28 vs. 89.48, t = 3.15, P = 0.002) and more feeding problems (6.42 vs. 2.70, t = 3.74, P = 0.001). Relative to controls, ASD children consumed fewer number of food items (P = 0.022), particularly fruits (P = 0.004), vegetables (P = 0.011), and proteins (P = 0.015); had significantly lower daily intake of potassium (P = 0.001), copper (P = 0.007), and folate (P = 0.001). Although children with autism did not differ significantly from controls on intake of calories, height, weight, or body mass index, significantly greater proportion of ASD children failed to meet the estimated average requirement of thiamine (P = 0.039), vitamin C (P = 0.013), and copper (P = 0.005).

CONCLUSIONS:

The findings underscore the need for comprehensive assessment and empirically-supported interventions for eating problems and dietary deficiencies found in ASD children.

PMID: 28078576
DOI: 10.1007/s12098-016-2285-x