1. {{Error in Source Data for Prevalence of Autism Spectrum Disorder}}. {Jama}. 2018; 319(5): 505.
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2. Al-Otaish H, Al-Ayadhi L, Bjorklund G, Chirumbolo S, Urbina MA, El-Ansary A. {{Relationship between absolute and relative ratios of glutamate, glutamine and GABA and severity of autism spectrum disorder}}. {Metabolic brain disease}. 2018.
Autism spectrum disorder (ASD) is a neurodevelopmental pathology characterized by an impairment in social interaction, communication difficulties, and repetitive behaviors. Glutamate signaling abnormalities are thought to be considered as major etiological mechanisms leading to ASD. The search for amino-acidic catabolytes related to glutamate in patients with different levels of ASD might help current research to clarify the mechanisms underlying glutamate signaling and its disorders, particularly in relation to ASD. In the present study, plasma levels of the amino acids and their derivatives glutamate, glutamine, and gamma-aminobutyric acid (GABA), associated with their relative ratios, were evaluated using an enzyme-linked immunosorbent assay (ELISA) technique in 40 male children with ASD and in 38 age- and gender-matched neurotypical health controls. The Social Responsiveness Scale (SRS) was used to evaluate social cognition, and the Childhood Autism Rating Scale (CARS) was used to assess subjects’ behaviors. Children with ASD exhibited a significant elevation of plasma GABA and glutamate/glutamine ratio, as well as significantly lower levels of plasma glutamine and glutamate/GABA ratios compared to controls. No significant correlation was found between glutamate levels and the severity of autism, measured by CARS and SRS. In receiver operating characteristic (ROC) curve analysis, the area under the curve for GABA compared to other parameters was close to one, indicating its potential use as a biomarker. Glutamine appeared as the best predictive prognostic markers in the present study. The results of the present study indicate a disturbed balance between GABAergic and glutamatergic neurotransmission in ASD. The study also indicates that an increased plasma level of GABA can be potentially used as an early diagnostic biomarker for ASD.
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3. Aydin HI. {{Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder}}. {Indian pediatrics}. 2018; 55(1): 67-8.
BACKGROUND: Creatine transporter deficiency (CTD) is a treatable, X-linked, inborn error of metabolism. CASE CHARACTERISTICS: Two brothers with autism spectrum disorder were diagnosed with CTD at the ages of 17 and 12 years. Both were found to have a previously reported hemizygous p.408delF (c.1216_1218delTTC) deletion mutation. OUTCOME: Both patients were given creatine monohydrate, L-arginine, L-glycine and S-adenosylmethionine, which partially improved the behavioral problems. MESSAGE: Serum creatinine levels, creatine peak at brain MR spectroscopy or creatine/creatinine ratio in urine should be evaluated to identify CTD in children with autistic behavior and language disorders.
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4. Baron-Cohen S, Lombardo MV. {{Autism and talent: the cognitive and neural basis of systemizing}}. {Dialogues in clinical neuroscience}. 2017; 19(4): 345-53.
In 2003, we proposed the hypersystemizing theory of autism. The theory proposes that the human mind possesses a systemizing mechanism (SM) that helps identify lawful regularities (often causal) that govern the input-operation-output workings of a system. The SM can be tuned to different levels, from low to high, with a normal distribution of individual differences in how strongly people search for such input-operation-out-put regularities in any data that is systemizable. Evidence suggests that people with autism are on average hypersystemizers, scoring higher than average on the systemizing quotient and on performance tests of systemizing. In this article, we consider the neural basis behind the SM, since there has been little consideration of the brain basis of systemizing. Finally, we discuss directions for future work in this field.
5. Bi XA, Wang Y, Shu Q, Sun Q, Xu Q. {{Classification of Autism Spectrum Disorder Using Random Support Vector Machine Cluster}}. {Front Genet}. 2018; 9: 18.
Autism spectrum disorder (ASD) is mainly reflected in the communication and language barriers, difficulties in social communication, and it is a kind of neurological developmental disorder. Most researches have used the machine learning method to classify patients and normal controls, among which support vector machines (SVM) are widely employed. But the classification accuracy of SVM is usually low, due to the usage of a single SVM as classifier. Thus, we used multiple SVMs to classify ASD patients and typical controls (TC). Resting-state functional magnetic resonance imaging (fMRI) data of 46 TC and 61 ASD patients were obtained from the Autism Brain Imaging Data Exchange (ABIDE) database. Only 84 of 107 subjects are utilized in experiments because the translation or rotation of 7 TC and 16 ASD patients has surpassed +/-2 mm or +/-2 degrees . Then the random SVM cluster was proposed to distinguish TC and ASD. The results show that this method has an excellent classification performance based on all the features. Furthermore, the accuracy based on the optimal feature set could reach to 96.15%. Abnormal brain regions could also be found, such as inferior frontal gyrus (IFG) (orbital and opercula part), hippocampus, and precuneus. It is indicated that the method of random SVM cluster may apply to the auxiliary diagnosis of ASD.
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6. Buja A, Volfovsky N, Krieger AM, Lord C, Lash AE, Wigler M, Iossifov I. {{Damaging de novo mutations diminish motor skills in children on the autism spectrum}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2018; 115(8): E1859-e66.
In individuals with autism spectrum disorder (ASD), de novo mutations have previously been shown to be significantly correlated with lower IQ but not with the core characteristics of ASD: deficits in social communication and interaction and restricted interests and repetitive patterns of behavior. We extend these findings by demonstrating in the Simons Simplex Collection that damaging de novo mutations in ASD individuals are also significantly and convincingly correlated with measures of impaired motor skills. This correlation is not explained by a correlation between IQ and motor skills. We find that IQ and motor skills are distinctly associated with damaging mutations and, in particular, that motor skills are a more sensitive indicator of mutational severity than is IQ, as judged by mutational type and target gene. We use this finding to propose a combined classification of phenotypic severity: mild (little impairment of either), moderate (impairment mainly to motor skills), and severe (impairment of both IQ and motor skills).
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7. Chahrour M, Kleiman RJ, Manzini MC. {{Translating genetic and preclinical findings into autism therapies}}. {Dialogues in clinical neuroscience}. 2017; 19(4): 335-43.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by social deficits and repetitive/restrictive interests. ASD is associated with multiple comorbidities, including intellectual disability, anxiety, and epilepsy. Evidence that ASD is highly heritable has spurred major efforts to unravel its genetics, revealing possible contributions from hundreds of genes through rare and common variation and through copy-number changes. In this perspective, we provide an overview of the current state of ASD genetics and of how genetic research has spurred the development of in vivo and in vitro models using animals and patient cells to evaluate the impact of genetic mutations on cellular function leading to disease. Efforts to translate these findings into successful therapies have yet to bear fruit. We discuss how the valuable insight into the disorder provided by these new models can be used to better understand ASD and develop future clinical trials.
8. Chez M, Lepage C, Parise C, Dang-Chu A, Hankins A, Carroll M. {{Safety and Observations from a Placebo-Controlled, Crossover Study to Assess Use of Autologous Umbilical Cord Blood Stem Cells to Improve Symptoms in Children with Autism}}. {Stem cells translational medicine}. 2018.
The aim of this exploratory study was to assess the safety and clinical effects of autologous umbilical cord blood (AUCB) infusion in children with idiopathic autism spectrum disorder (ASD). Twenty-nine children 2 to 6 years of age with a confirmed diagnosis of ASD participated in this randomized, blinded, placebo-controlled, crossover trial. Participants were randomized to receive AUCB or placebo, evaluated at baseline, 12, and 24 weeks, received the opposite infusion, then re-evaluated at the same time points. Evaluations included assessments of safety, Expressive One Word Picture Vocabulary Test, 4th edition, Receptive One Word Picture Vocabulary Test, 4th edition, Clinical Global Impression, Stanford-Binet Fluid Reasoning and Knowledge, and the Vineland Adaptive Behavior and Socialization Subscales. Generalized linear models were used to assess the effects of the response variables at the 12- and 24-week time periods under each condition (AUCB, placebo). There were no serious adverse events. There were trends toward improvement, particularly in socialization, but there were no statistically significant differences for any endpoints. The results of this study suggest that autologous umbilical cord infusions are safe for children with ASD. Tightly controlled trials are necessary to further progress the study of AUCB for autism. Stem Cells Translational Medicine 2018.
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9. Davidson M. {{Vaccination as a cause of autism-myths and controversies}}. {Dialogues in clinical neuroscience}. 2017; 19(4): 403-7.
Despite significant progress in the study of the epidemiology and genetics of autism, the etiology and patho-physiology of this condition is far from being elucidated and no curative treatment currently exists. Although solid scientific research continues, in an attempt to find explanations and solutions, a number of nonscientific and pure myths about autism have emerged. Myths that vaccines or mercury are associated with autism have been amplified by misguided scientists; frustrated, but effective parent groups; and politicians. Preventing the protection provided by vaccination or administration of mercury-chelating agents may cause real damage to autistic individuals and to innocent bystanders who as a result may be exposed to resurgent diseases that had already been « extinguished. » That such myths flourish is a consequence of the authority of scientific evidence obtained by scientific methodology losing ground to alternative truths and alternative science. This article presents a narrative of the origin of the myths around autism.
10. Edwards AG, Brebner CM, McCormack PF, MacDougall CJ. {{From ‘Parent’ to ‘Expert’: How Parents of Children with Autism Spectrum Disorder Make Decisions About Which Intervention Approaches to Access}}. {J Autism Dev Disord}. 2018.
Parents of children with Autism Spectrum Disorder are responsible for deciding which interventions to implement with their child. There is limited research examining parental decision-making with regards to intervention approaches. A constructivist grounded theory methodology was implemented in this study. Semi-structured interviews were undertaken with 14 participants from 12 family units. Data collection and analysis occurred concurrently, allowing a grounded theory to be constructed. Parental decision-making was influenced by many factors, arranged into seven core categories (values, experience, information, motivation, understanding, needs and logistics). Decision-making evolved over time, as parents transformed from ‘parent’ to ‘expert’. The results of this study provide an insight into parental decision-making, which has implications for the support provided to parents by health professionals.
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11. Fernandez BA, Scherer SW. {{Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach}}. {Dialogues in clinical neuroscience}. 2017; 19(4): 353-71.
Autism spectrum disorder (ASD) encompasses a group of neurodevelopmental conditions diagnosed solely on the basis of behavioral assessments that reveal social deficits. Progress has been made in understanding its genetic underpinnings, but most ASD-associated genetic variants, which include copy number variants (CNVs) and mutations in ASD-risk genes, account for no more than 1 % of ASD cases. This high level of genetic heterogeneity leads to challenges obtaining and interpreting genetic testing in clinical settings. The traditional definition of syndromic ASD is a disorder with a clinically defined pattern of somatic abnormalities and a neurobehavioral phenotype that may include ASD. Most have a known genetic cause. Examples include fragile X syndrome and tuberous sclerosis complex. We propose dividing syndromic autism into the following two groups: (i) ASD that occurs in the context of a clinically defined syndrome-recognizing these disorders depends on the familiarity of the clinician with the features of the syndrome, and the diagnosis is typically confirmed by targeted genetic testing (eg, mutation screening of FMR1); (ii) ASD that occurs as a feature of a molecularly defined syndrome-for this group of patients, ASD-associated variants are identified by genome-wide testing that is not hypothesis driven (eg, microarray, whole exome sequencing). These ASD groups cannot be easily clinically defined because patients with a given variant have variable somatic abnormalities (dysmorphism and birth defects). In this article, we review common diagnoses from the above categories and suggest a testing strategy for patients, guided by determining whether the individual has essential or complex ASD; patients in the latter group have multiple morphologic anomalies on physical examination. Finally, we recommend that the syndromic versus nonsyndromic designation ultimately be replaced by classification of ASD according to its genetic etiology, which will inform about the associated spectrum and penetrance of neurobehavioral and somatic manifestations.
12. Field LM. {{ASDS International Surgical Fellowship Venues Being Established in New Program}}. {Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al]}. 2018.
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13. Fitzgerald E, Yap HK, Ashton C, Moore DW, Furlonger B, Anderson A, Kickbush R, Donald J, Busacca M, English DL. {{Comparing the effectiveness of virtual reality and video modelling as an intervention strategy for individuals with Autism Spectrum Disorder: Brief report}}. {Dev Neurorehabil}. 2018; 21(3): 197-201.
The increasing numbers of individuals diagnosed with Autism Spectrum Disorder (ASD) has foreshadowed a greater need for effective intervention procedures to aid learning. PURPOSE: This study compared the effectiveness of video modelling (VM) and virtual reality (VR) for teaching adults with ASD. METHODS: Using an alternating treatments design without baseline two participants completed paper folding projects of varying difficulty following exposure to either VM or VR task modelling. The rate of learning (ROL) determined treatment effectiveness. RESULTS: One participant reached mastery criterion for the intermediate project on the 5th trial with both VR and VM (i.e. equal ROL). The other achieved mastery by the 6th trial of VM, but did not attain mastery in VR. Both participants reported enjoying both procedures. CONCLUSIONS: The results suggest that VM was more effective than VR in facilitating learning. Implications for future research are discussed.
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14. Ghorbel R, Ghorbel R, Rouissi A, Fendri-Kriaa N, Ben Salah G, Belguith N, Ammar-Keskes L, Gouider-Khouja N, Fakhfakh F. {{First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation}}. {Biochemical and biophysical research communications}. 2018; 497(1): 93-101.
Rett syndrome is an X-linked neurodevelopmental disorder that develops a profound intellectual and motor disability and affects 1 from 10000 to 15000 live female births. This disease is characterized by a period of apparently normal development until 6-18 months of age when motor and communication abilities regress which is caused by mutations occurred in the X-linked MECP2 gene, encoding the methyl-CpG binding protein 2. This research study reports a molecular analysis via an exhaustive gene sequencing which reveals an unusual novel double mutation (c.695G>T; c.880C>T) located in a highly conserved region in MECP2 gene affecting the transcription repression domain (TRD) of MeCP2 protein and leading for the first time to a severe phenotype of Rett syndrome. Moreover, a computational investigation of MECP2 mutations demonstrates that the novel mutation c.695G>T is highly deleterious which affects the MeCP2 protein showing also an adverse impact on MECP2 gene expression and resulting in an affected folding and decreased stability of MECP2 structures. Thus, the altered TRD domain engenders a disrupted process of MECP2 functions. Therefore, this is the first study which highlights a novel double mutation among the transcription repression domain (TRD) of MeCP2 protein in Rett patient with a severe clinical phenotype in North Africa region.
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15. Kinlin LM, Blanchard AC, Silver S, Morris SK. {{Scurvy as a mimicker of osteomyelitis in a child with autism spectrum disorder}}. {International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases}. 2018.
We describe a case of scurvy in a 10-year-old boy with autism spectrum disorder. His clinical presentation was initially thought to be due to osteomyelitis, for which empirical antimicrobial therapy was initiated. Further invasive and ultimately unnecessary investigations were avoided when scurvy was considered in the context of a restricted diet and classic signs of vitamin C deficiency. Infectious Diseases specialists should be aware of scurvy as an important mimicker of osteoarticular infections when involved in the care of patients at risk for nutritional deficiencies.
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16. Lung FW, Chiang TL, Lin SJ, Lee MC, Shu BC. {{Advanced Maternal Age and Maternal Education Disparity in Children with Autism Spectrum Disorder}}. {Maternal and child health journal}. 2018.
Objective Previous studies have shown inconsistent results with regard to the association between advanced parental age and autism spectrum disorder (ASD). The sociodemographic status of parents has been found to be associated with children with ASD, however. Therefore, a pathway analysis was undertaken of the roles of maternal age and education in ASD diagnosis and community screening, in a national birth cohort database, using a propensity score matching (PSM) method. Method The 6- and 66-month Taiwan Birth Cohort Study dataset was used (N = 20,095). The PSM exact matching method was used to select 1700 families (ratio of 1:4 between ASD diagnosis and control) from the Taiwan Birth Cohort Study dataset. Results (1) The results from the complete dataset and the PSM exact matching dataset both show that the risk of a child being diagnosed with ASD was increased by the mother being over 40 years old. (2) Although more children of mothers with lower-than-average education were positive on screening, more children of mothers with higher-than-average education were also diagnosed with ASD. Conclusions for Practice Advanced maternal age had a higher association with the diagnosis of ASD, and maternal educational disparity was found between ASD clinical diagnosis and community screening. Community and primary medical care services should pay more attention to children of parents with lower education during ASD screening to prevent delayed diagnosis.
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17. Mor-Shaked H, Eiges R. {{Reevaluation of FMR1 Hypermethylation Timing in Fragile X Syndrome}}. {Front Mol Neurosci}. 2018; 11: 31.
Fragile X syndrome (FXS) is one of the most common heritable forms of cognitive impairment. It results from a fragile X mental retardation protein (FMRP) protein deficiency caused by a CGG repeat expansion in the 5′-UTR of the X-linked FMR1 gene. Whereas in most individuals the number of CGGs is steady and ranges between 5 and 44 units, in patients it becomes extensively unstable and expands to a length exceeding 200 repeats (full mutation). Interestingly, this disease is exclusively transmitted by mothers who carry a premutation allele (55-200 CGG repeats). When the CGGs reach the FM range, they trigger the spread of abnormal DNA methylation, which coincides with a switch from active to repressive histone modifications. This results in epigenetic gene silencing of FMR1 presumably by a multi-stage, developmentally regulated process. The timing of FMR1 hypermethylation and transcription silencing is still hotly debated. There is evidence that hypermethylation varies considerably between and within the tissues of patients as well as during fetal development, thus supporting the view that FMR1 silencing is a post-zygotic event that is developmentally structured. On the other hand, it may be established in the female germ line and transmitted to the fetus as an integral part of the mutation. This short review summarizes the data collected to date concerning the timing of FMR1 epigenetic gene silencing and reassess the evidence in favor of the theory that gene inactivation takes place by a developmentally regulated process around the 10th week of gestation.
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18. Muldoon D, Cosbey J. {{A Family-Centered Feeding Intervention to Promote Food Acceptance and Decrease Challenging Behaviors in Children With ASD: Report of Follow-Up Data on a Train-the-Trainer Model Using EAT-UP}}. {American journal of speech-language pathology}. 2018; 27(1): 278-87.
Purpose: This research note outlines the usefulness of Easing Anxiety Together with Understanding and Perseverance (EAT-UP), a train-the-trainer, family-centered feeding intervention, for promoting food acceptance of children with autism spectrum disorder (ASD). This report is a follow-up on a pilot study (n = 4) of the EAT-UP intervention previously completed by the same authors. Method: Participants were 3 families of children with ASD receiving services from an outpatient department of a larger rehabilitation hospital in the northeastern United States. Three professionals working with the families were also recruited and trained by the first author, a speech-language pathologist experienced with the EAT-UP method. Initial assessment was followed by a baseline period for each participant. An individual mealtime plan was drafted for each family. Data on acceptance of less preferred food and the presence of challenging mealtime behaviors were recorded using direct observation and pre-, mid-, and postintervention measures and questionnaires. Results: All children demonstrated increased food acceptance and dietary diversity and decreased challenging behaviors. Caregivers reported decreases in the frequency of problem behaviors and in the number of problem mealtime behaviors. Measures of procedural fidelity increased from 50% to 100% for registered behavior technicians and parents over the course of the EAT-UP intervention period. Conclusions: EAT-UP is an effective model for training professionals who work with families of children with ASD and challenging mealtime behavior. Implications for interprofessional practice and research are discussed.
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19. Nakamura H, Uematsu M, Numata-Uematsu Y, Abe Y, Endo W, Kikuchi A, Takezawa Y, Funayama R, Shirota M, Nakayama K, Niihori T, Aoki Y, Haginoya K, Kure S. {{Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation}}. {Brain Dev}. 2018.
Numerous genetic syndromes that include intellectual disability (ID) have been reported. Recently, HECW2 mutations were detected in patients with ID and growth development disorders. Four de novo missense mutations have been reported. Here, we report a Japanese girl with Rett-like symptoms of severe ID, hypotonia, refractory epilepsy, and stereotypical hand movement (hand tapping, flapping, and wringing) after the age of 1year. Characteristically, she had cortical visual impairment. She had difficulty swallowing since the age of 4years, and diminished activity was noticeable since the age of 12years, suggesting neurodevelopmental regression. She has no acquired microcephaly, and brain magnetic resonance imaging showed non-specific mild cerebral and cerebellar atrophy without progression over time. Genetic analyses of MECP2, CDKL5, and FOXG1 were negative. Whole-exome sequencing analysis revealed a known de novo mutation (c.3988C>T) in HECW2. The characteristics of her clinical symptoms are severe cortical visual impairment and Rett-like phenotype such as involuntary movements and regression. This is the first report that patients with HECW2 mutation could show Rett-like feature.
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20. Nilsson Jobs E, Falck-Ytter T, Bolte S. {{Local and Global Visual Processing in 3-Year-Olds With and Without Autism}}. {J Autism Dev Disord}. 2018.
Research on visual local and global perception in Autism Spectrum Disorder (ASD) is incomplete in young children. We investigated 35 three-year-old siblings of children with ASD, either diagnosed (n = 12) or not diagnosed (n = 23) with ASD as well as 14 controls with typical development and with no family history of ASD. Data from the local tasks Children’s Embedded Figures Test, Hidden Pictures, Figure-Ground and the global tasks Closure and Fragmented Picture Test were collected. Enhanced performance on the local task Hidden Pictures differentiated children with ASD from the other groups. Implications of these results are discussed.
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21. Schottle D, Briken P, Tuscher O, Turner D. {{Sexuality in autism: hypersexual and paraphilic behavior in women and men with high-functioning autism spectrum disorder}}. {Dialogues in clinical neuroscience}. 2017; 19(4): 381-93.
Like nonaffected adults, individuals with autism spectrum disorders (ASDs) show the entire range of sexual behaviors. However, due to the core symptoms of the disorder spectrum, including deficits in social skills, sensory hypo- and hypersensitivities, and repetitive behaviors, some ASD individuals might develop quantitatively above-average or nonnormative sexual behaviors and interests. After reviewing the relevant literature on sexuality in high-functioning ASD individuals, we present novel findings on the frequency of normal sexual behaviors and those about the assessment of hypersexual and paraphilic fantasies and behaviors in ASD individuals from our own study. Individuals with ASD seem to have more hypersexual and paraphilic fantasies and behaviors than general-population studies suggest. However, this inconsistency is mainly driven by the observations for male participants with ASD. This could be due to the fact that women with ASD are usually more socially adapted and show less ASD symptomatology. The peculiarities in sexual behaviors in ASD patients should be considered both for sexual education and in therapeutic approaches.
22. Shen MD, Piven J. {{Brain and behavior development in autism from birth through infancy}}. {Dialogues in clinical neuroscience}. 2017; 19(4): 325-33.
Autism spectrum disorder (ASD) is a heterogeneous condition that affects 1 in 68 children. Diagnosis is based on the presence of characteristic behavioral impairments that emerge in the second year of life and thus is not typically made until 3 to 4 years of age. Recent studies of early brain and behavior development have provided important new insights into the nature of this condition. Autism-specific brain imaging features have been identified as early as 6 months of age, and age-specific brain and behavior changes have been demonstrated across the first 2 years of life, highlighting the developmental nature of ASD. New findings demonstrate that early brain imaging in the first year of life holds great promise for presymptomatic prediction of ASD. There is a general understanding in medicine that earlier treatment has better outcomes than later treatment, and in autism, there is an emerging consensus that earlier intervention results in more successful outcomes for the child. Examining early brain and behavior trajectories also has the potential to parse the etiologic heterogeneity in ASD, a well-recognized impediment to developing targeted, mechanistic treatments. This review highlights the current state of the science in the pursuit of early brain and behavioral markers of autism during infancy and examines the potential implications of these findings for treatment of this condition.
23. Sinha S, Levi D, Peirone A, Pedra C. {{Techniques for trans-catheter retrieval of embolized Nit-Occlud((R)) PDA-R and ASD-R devices}}. {Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions}. 2018; 91(3): 478-84.
BACKGROUND: Nit-Occlud((R)) (atrial septal defect) ASD-R and (patent ductus arteriosus) PDA-R devices are used outside the United States for percutaneous closure of the patent ductus arteriosus and atrial septal defects. When embolization occurs, these devices have been difficult to retrieve. METHODS: Bench simulations of retrieval of PDA-R and ASD-R devices were performed in a vascular model. Retrieval of each device was attempted using snare techniques or with bioptome forceps with a range of devices. The same devices were then intentionally embolized in an animal model. Retrieval methods were systematically tested in a range of sheath sizes, and graded in terms of difficulty and retrieval time. RESULTS: Devices that were grasped by the bioptome in the center of the proximal part of the devices were easily retrieved in both models. Bench studies determined the minimum sheath sizes needed for retrieval of each device with this method. In general sheathes two french sizes greater than the delivery sheath were successful with this technique. Three out of the four PDA-R devices were successfully retrieved in vivo. Two were retrieved by grasping the middle of the PA end of the PDA-R device with a Maslanka bioptome and one small PDA-R device was retrieved using a 10 mm Snare. Four of the five ASD-R devices were retrieved successfully grasping the right atrial ASD-R disc or by passing a wire through the device and snaring this loop. For ASD-R 28 and 30 mm devices, a double bioptome technique was needed to retrieve the device. CONCLUSION: ASD-R and PDA-R devices can be successfully retrieved in the catheterization lab. It is critical to grab the center portion of the right atrial disc of the ASD-R device or pulmonary portion of the PDA-R device and to use adequately sized sheathes.
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24. Stepanova E, Dowling S, Phelps M, Findling RL. {{Pharmacotherapy of emotional and behavioral symptoms associated with autism spectrum disorder in children and adolescents}}. {Dialogues in clinical neuroscience}. 2017; 19(4): 395-402.
Autism spectrum disorder (ASD) is characterized by impairment in social communication and restricted patterns of behavior. Although there is no pharmacological treatment approved by the US Food and Drug Administration (FDA) for the core symptoms of ASD, there is mounting support in the literature for the management of behavioral symptoms associated with this developmental disorder, in particular, irritability and hyperactivity. Aripiprazole and risperidone are currently approved by the FDA for the treatment of irritability in youth with ASD. Though not FDA-approved, methylphenidate and guanfacine are effective for the management of hyperactivity in children with ASD. Selective serotonin reuptake inhibitors are often used in clinical practice to target anxiety and compulsions; however, there is little evidence to support its use in this population. There is a great need for further research on the safety and efficacy of existing psychotropic medications in youth with ASD, as well as the development of new treatment modalities for the core and associated behavioral symptoms.
25. Sumiya M, Igarashi K, Miyahara M. {{Emotions surrounding friendships of adolescents with autism spectrum disorder in Japan: A qualitative interview study}}. {PLoS One}. 2018; 13(2): e0191538.
Emotions are embedded in culture and play a pivotal role in making friends and interacting with peers. To support the social participation of students with autism spectrum disorders (ASD) it is essential to understand their emotional life in the context of ethnic and school cultures. We are particularly interested in how anxiety and loneliness are experienced in developing and maintaining friendships in the daily encounters of adolescents with ASD in the specific context of Japanese schools, because these emotions could serve either as facilitators or barriers to social interaction, depending on how individuals manage them. The present qualitative study investigated perceptions of emotions related to friendship in the everyday school life of 11 adolescents with ASD in Japan. Data were collected by means of semi-structured individual interviews, which revealed a wide range of motivations for socialization, limited future prospects to deepen friendships, robust self-awareness of one’s own social challenges, and conscious efforts to cope with these challenges. An inductive approach to data analysis resulted in four themes: social motivation, loneliness, anxiety, and distress. To our knowledge this is the first study to uncover the rich emotional life of adolescents with ASD in the context of their friendships in an Asian culture.
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26. Therrien MCS, Light JC. {{Promoting Peer Interaction for Preschool Children With Complex Communication Needs and Autism Spectrum Disorder}}. {American journal of speech-language pathology}. 2018; 27(1): 207-21.
Purpose: This study investigates the impact of a multicomponent intervention on the social communication and engagement of preschool children with complex communication needs (CCN) and autism spectrum disorder (ASD) and peers without disabilities. Method: Five dyads of children participated in this research. A multiple probe design across dyads was used to evaluate the effects of intervention on the frequency of communicative turns expressed by children with CCN and ASD in interactions with peers. Frequency of peer turns, percentage of turns taken by peers, and joint engagement were investigated to assess the quality of the interaction. The intervention included (a) provision of a communication app on an Apple iPad Air 2 and (b) dyadic turn-taking training. Results: Four of the 5 participants with CCN completed training and increased independent communicative turn-taking with peers. The 5th participant showed increased turn-taking during training but little change in independent turn-taking. All peers took more turns in intervention than in baseline, with no negative impact on the turn balance between participants. Average joint engagement increased for all dyads, although session-to-session variability was high. Conclusion: The results from this study provide support for the use of this intervention to promote peer interaction for children with CCN and ASD. Supplemental Material: https://doi.org/10.23641/asha.5829678.
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27. Thibaut F. {{New perspectives in autism spectrum disorders}}. {Dialogues in clinical neuroscience}. 2017; 19(4): 323.
Autism spectrum disorder, a complex developmental disorder, has been found to be one of the most heritable neuropsychiatric disorders. The next step will be to translate these findings into successful treatments for this disorder.
28. Will EA, Caravella KE, Hahn LJ, Fidler DJ, Roberts JE. {{Adaptive behavior in infants and toddlers with Down syndrome and fragile X syndrome}}. {Am J Med Genet B Neuropsychiatr Genet}. 2018; 177(3): 358-68.
Individuals with Down syndrome (DS) experience deficits across all domains of adaptive functioning, however little is known about the emergence and age-related changes of these impairments compared to other neurogenetic disorders with similar intellectual disability impairments, such as fragile X syndrome (FXS). Adaptive behavior is key for optimal functioning in these populations. Participants aged 5-45 months comprised three age-matched groups, DS (n = 64), FXS (n = 69), and typically developing controls (TD; n = 69). Adaptive behavior was measured on the Vineland Adaptive Behavior Scales-II. Regressions were used to examine adaptive behavior in a cross-sectional design across age. DS infants and toddlers evidenced deficits across all areas of adaptive behaviors compared to the age-matched TD group, with clear impairments present in the first year of life. Motor skills were the area of greatest weakness in children with DS with significant impairment evident at 12 months of age that remained low through 3 years. Compared to age-matched children with FXS, children with DS showed initially lower standard scores at 12 months of age, but slower declines in standard scores across age, resulting in less impaired functioning at 36 months. This is the first study to compare adaptive behavior in infants and toddlers with DS to FXS, and demonstrate the phenotypic specificity of adaptive profiles in this diagnostic group. These findings provide evidence that adaptive behavior should be a major target of intervention in children with FXS and DS, and that these differences are potentially driven by unique etiologies attributable to each disorder.
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29. Xu G, Strathearn L, Liu B, Bao W. {{Corrected Prevalence of Autism Spectrum Disorder Among US Children and Adolescents}}. {Jama}. 2018; 319(5): 505.
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30. Ziegler J, Spivack E. {{Nutritional and dental issues in patients with intellectual and developmental disabilities}}. {Journal of the American Dental Association (1939)}. 2018.
BACKGROUND: People with intellectual and developmental disabilities are among the most disadvantaged and underserved groups of dental patients. Considerable health care disparities for this population have been identified, particularly oral and dental health as well as access to dental care services. People with Down syndrome and cerebral palsy have a variety of nutritional and dental considerations. CONCLUSIONS: These people have a higher prevalence of untreated caries and periodontal disease than the general population and may have higher rates of obesity, edentulism, and chronic oral and systemic diseases. Diet choices may affect the oral health and may play an important role in the systemic health of these people. Suggestions to improve and affect dietary intake are provided. CLINICAL IMPLICATIONS: Health issues within this population require a holistic approach to care. Concerns about oral health and diet must be addressed to support optimal health.
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31. Zikopoulos B, Garcia-Cabezas MA, Barbas H. {{Parallel trends in cortical gray and white matter architecture and connections in primates allow fine study of pathways in humans and reveal network disruptions in autism}}. {PLoS biology}. 2018; 16(2): e2004559.
Noninvasive imaging and tractography methods have yielded information on broad communication networks but lack resolution to delineate intralaminar cortical and subcortical pathways in humans. An important unanswered question is whether we can use the wealth of precise information on pathways from monkeys to understand connections in humans. We addressed this question within a theoretical framework of systematic cortical variation and used identical high-resolution methods to compare the architecture of cortical gray matter and the white matter beneath, which gives rise to short- and long-distance pathways in humans and rhesus monkeys. We used the prefrontal cortex as a model system because of its key role in attention, emotions, and executive function, which are processes often affected in brain diseases. We found striking parallels and consistent trends in the gray and white matter architecture in humans and monkeys and between the architecture and actual connections mapped with neural tracers in rhesus monkeys and, by extension, in humans. Using the novel architectonic portrait as a base, we found significant changes in pathways between nearby prefrontal and distant areas in autism. Our findings reveal that a theoretical framework allows study of normal neural communication in humans at high resolution and specific disruptions in diverse psychiatric and neurodegenerative diseases.
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32. Zwick GP. {{Neuropsychological assessment in autism spectrum disorder and related conditions}}. {Dialogues in clinical neuroscience}. 2017; 19(4): 373-9.
Neuropsychological assessment provides a profound analysis of cognitive functioning in people with autism spectrum disorder (ASD). Individuals on the autistic spectrum often show a high level of anxiety and are frequently affected by comorbidities that influence their quality of life. Yet, they also have cognitive strengths that should be identified in order to develop effective support strategies. This article presents an overview of five cognitive areas that are essential for neuropsychological evaluation (ie, intelligence, attention, executive function, social cognition, and praxis) and explores the underlying causes of behavioral problems in persons with ASD. Furthermore, it stresses the importance of meticulous neuropsychological testing with regard to cognitive remediation, a method that can help to enhance single cognitive processes in a targeted manner. Objective test results suggest it might be possible to promote an improved sense of coherence. In line with the salutogenic model, this may be fundamental for human health and well-being.
