1. Abubakar A, Ssewanyana D, de Vries PJ, Newton CR. {{Autism spectrum disorders in sub-Saharan Africa}}. {Lancet Psychiatry};2016 (Sep);3(9):800-802.
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2. Cashin A, Yorke J. {{Overly Regulated Thinking and Autism Revisited}}. {J Child Adolesc Psychiatr Nurs};2016 (Aug 29)
PROBLEM: Humans exist within a socially mediated dynamical system. Frequent demands are experienced to respond to change in the environment to adapt and flourish. People with autism have impaired behavioral and thinking flexibility and experience high levels of anxiety, as change and adaptation do not come naturally. The disability inherent in autism is by definition the impaired social and occupational functioning that results from lack of adaptation. The point of the behavioral triad of restricted and repetitive interests, activities, and behaviors has received relatively little attention as compared to the other two points of the triad. METHODS: A review of the literature related to restricted and repetitive interests and activities and behaviors and autism was conducted to inform this theoretical review. FINDINGS: This paper considers the overly regulated thought and behavior inherent in autism spectrum disorders through the lens of dynamical systems, and an explanatory model is generated. CONCLUSION: The mathematical tools applied to understand dynamical systems may be a fruitful basis of further research to enable the movement from a theoretical concept of overly regulated thinking and behavior in autism to an empirically derived understanding.
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3. Dalton NR, Chandler S, Turner C, Charman T, Pickles A, Simonoff E, Baird G. {{Measurement of urine indolylacroylglycine is not useful in the diagnosis or dietary management of autism}}. {Autism Res};2016 (Aug 29)
To measure urine indolylacroylglycine (IAG) excretion using the IAG:creatinine ratio in children with autism spectrum disorder (ASD) compared with two groups of age matched controls, one with special needs but without ASD (SEN) and one typically developing (TD) and in subgroups with/without current gastrointestinal problems and ASD with and without regression. IAG:creatinine ratio was measured in the urine of 279 children aged 10-14 years: 129 children with ASD (28 with and 101 without regression), 62 SEN controls and 88 TD controls. The prevalence of gastro-intestinal symptoms (GIS) was recorded. No differences were found in the urine IAG:creatinine ratio among groups ASD, TD and SEN; nor in the ASD groups with/without regression, nor in those with/without GIS. This study finds no evidence of increased urine IAG excretion in children with ASD, with or without GIS or with or without regression. Urinary IAG measurements in children with ASD offer no support for increased presence of neuroactive peptides proposed to result from increased gut permeability. We found measurement of urinary IAG to have no value in the diagnosis of autism or in the dietary management of children with ASD. Autism Res 2016,. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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4. Gilson CB, Carter EW. {{Promoting Social Interactions and Job Independence for College Students with Autism or Intellectual Disability: A Pilot Study}}. {J Autism Dev Disord};2016 (Aug 29)
The employment outcomes for young adults with autism or intellectual disability (ID) lag far behind those of their peers without disabilities. Most postsecondary education programs for students with disabilities incorporate internship experiences to foster employment skills. However, the proximity of job coaches may inadvertently hinder social opportunities and independence. We used a multiple-probe, single-case experimental design across three college students with autism or ID to examine the effects of a coaching package on task engagement and social interactions. For all participants, interactions increased and task engagement maintained when job coaches reduced proximity and delivered prompts discreetly through bug-in-ear devices. Participants considered the intervention beneficial and unobtrusive. We present implications for supporting employment preparation within postsecondary education programs.
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5. Niemczyk J, von Gontard A, Equit M, Bauer K, Naumann T, Wagner C, Curfs L. {{Detailed assessment of incontinence in boys with fragile-X-syndrome in a home setting}}. {Eur J Pediatr};2016 (Aug 27)
Fragile-X-syndrome (FXS) is caused by a mutation on the X chromosome (Xq27.3). Males with a full mutation have typical dysmorphic signs, moderate intellectual disability and psychological disorders. Twenty-five to fifty percent are affected by incontinence. The aim of the study was to assess subtypes of incontinence and psychological problems in children with FXS in their home environments. Twenty-two boys with FXS (mean age 11.0 years) and 22 healthy controls (mean age 11.1 years) were examined with sonography, uroflowmetry, 48-h bladder diary, physical examination, IQ test, parental psychiatric interview and questionnaires regarding incontinence and psychological symptoms in a home setting. Boys with FXS had higher rates of incontinence than controls (59.1 vs. 4.8 %). The most common subtypes in FXS boys were primary non-monosymptomatic nocturnal enuresis, urge incontinence and nonretentive faecal incontinence. 90.9 % boys with FXS had a psychological comorbidity. Incontinence and behavioural symptoms were not associated. CONCLUSION: Boys with FXS have a higher risk for physical disabilities, psychological disorders and incontinence than healthy boys. Constipation is not a major problem in FXS. As effective treatment is available for children with ID, we recommend offering assessment and therapy to all children with FXS and incontinence. WHAT IS KNOWN: * Boys with fragile-X-syndrome (FXS) have higher rates of incontinence, psychological disorders and somatic conditions than typically developing boys. What is New: * Constipation is a rare condition in FXS in contrast to other genetic syndromes. * Although incontinence rates are higher, urological findings (uroflowmetry, sonography) are not more pathological per se in FXS.
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6. O’Brien A, Schlosser RW, Shane HC, Abramson J, Allen AA, Flynn S, Yu C, Dimery K. {{Brief Report: Just-in-Time Visual Supports to Children with Autism via the Apple Watch:(R) A Pilot Feasibility Study}}. {J Autism Dev Disord};2016 (Aug 29)
Using augmented input might be an effective means for supplementing spoken language for children with autism who have difficulties following spoken directives. This study aimed to (a) explore whether JIT-delivered scene cues (photos, video clips) via the Apple Watch(R) enable children with autism to carry out directives they were unable to implement with speech alone, and (b) test the feasibility of the Apple Watch(R) (with a focus on display size). Results indicated that the hierarchical JIT supports enabled five children with autism to carry out the majority of directives. Hence, the relatively small display size of the Apple Watch does not seem to hinder children with autism to glean critical information from visual supports.
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7. Schenkel LC, Schwartz C, Skinner C, Rodenhiser D, Ainsworth P, Pare G, Sadikovic B. {{Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array}}. {J Mol Diagn};2016 (Aug 29)
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. It is most frequently caused by an abnormal expansion of the CGG trinucleotide repeat (>200 repeats) located in the promoter of the fragile X mental retardation gene (FMR1), resulting in promoter DNA hypermethylation and gene silencing. Current clinical tests for FXS are technically challenging and labor intensive, and may involve use of hazardous chemicals or radioisotopes. We clinically validated the Illumina Infinium HumanMethylation450 DNA methylation array for FXS screening. We assessed genome-wide and FMR1-specific DNA methylation in 32 males previously diagnosed with FXS, including nine with mosaicism, as well as five females with full mutation, and premutation carrier males (n = 11) and females (n = 11), who were compared to 300 normal control DNA samples. Our findings demonstrate 100% sensitivity and specificity for detection of FXS in male patients, as well as the ability to differentiate patients with mosaic methylation defects. Full mutation and premutation carrier females did not show FMR1 methylation changes. We have clinically validated this genome-wide DNA methylation assay as a cost- and labor-effective alternative for sensitive and specific screening for FXS, while ruling out the most common differential diagnoses of FXS, Prader-Willi syndrome, and Sotos syndrome in the same assay.
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8. Sokhadze EM, Casanova MF, Tasman A, Brockett S. {{Electrophysiological and Behavioral Outcomes of Berard Auditory Integration Training (AIT) in Children with Autism Spectrum Disorder}}. {Appl Psychophysiol Biofeedback};2016 (Aug 29)
Autism is a pervasive developmental disorder of childhood characterized by deficits in social interaction, language, and stereotyped behaviors along with a restricted range of interests. It is further marked by an inability to perceive and respond to social and emotional signals in a typical manner. This might due to the functional disconnectivity of networks important for specific aspects of social cognition and behavioral control resulting in deficits of sensory information integration. According to several recent theories sensory processing and integration abnormalities may play an important role in impairments of perception, cognition, and behavior in individuals with autism. Among these sensory abnormalities, auditory perception distortion may contribute to many typical symptoms of autism. The present study used Berard’s technique of auditory integration training (AIT) to improve sound integration in children with autism. It also aimed to understand the abnormal neural and functional mechanisms underlying sound processing distortion in autism by incorporating behavioral, psychophysiological and neurophysiological outcomes. It was proposed that exposure to twenty 30-min AIT sessions (total 10 h of training) would result in improved behavioral evaluation scores, improve profile of cardiorespiratory activity, and positively affect both early [N1, mismatch negativity (MMN)] and late (P3) components of evoked potentials in auditory oddball task. Eighteen children with autism spectrum disorder (ASD) participated in the study. A group of 16 typically developing children served as a contrast group in the auditory oddball task. Autonomic outcomes of the study reflected a linear increase of heart rate variability measures and respiration rate. Comparison of evoked potential characteristics of children with ASD versus typically developing children revealed several group difference findings, more specifically, a delayed latency of N1 to rare and frequent stimuli, larger MMN; higher P3a to frequent stimuli, and at the same time delayed latency of P3b to rare stimuli in the autism group. Post-AIT changes in evoked potentials could be summarized as a decreased magnitude of N1 to rare stimuli, marginally lower negativity of MMN, and decrease of the P3a to frequent stimuli along with delayed latency and higher amplitude of the P3b to the rare stimuli. These evoked potential changes following completion of Berard AIT course are in a positive direction, making them less distinct from those recorded in age-matched group of typical children, thus could be considered as changes towards normalization. Parental questionnaires clearly demonstrated improvements in behavioral symptoms such as irritability, hyperactivity, repetitive behaviors and other important behavioral domains. The results of the study propose that more controlled research is necessary to document behavioral and psychophysiological changes resulting from Berard AIT and to provide explanation of the neural mechanisms of how auditory integration training may affect behavior and psychophysiological responses of children with ASD.
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9. Wu YE, Parikshak NN, Belgard TG, Geschwind DH. {{Genome-wide, integrative analysis implicates microRNA dysregulation in autism spectrum disorder}}. {Nat Neurosci};2016 (Aug 29)
Genetic variants conferring risk for autism spectrum disorder (ASD) have been identified, but the role of post-transcriptional mechanisms in ASD is not well understood. We performed genome-wide microRNA (miRNA) expression profiling in post-mortem brains from individuals with ASD and controls and identified miRNAs and co-regulated modules that were perturbed in ASD. Putative targets of these ASD-affected miRNAs were enriched for genes that have been implicated in ASD risk. We confirmed regulatory relationships between several miRNAs and their putative target mRNAs in primary human neural progenitors. These include hsa-miR-21-3p, a miRNA of unknown CNS function that is upregulated in ASD and that targets neuronal genes downregulated in ASD, and hsa_can_1002-m, a previously unknown, primate-specific miRNA that is downregulated in ASD and that regulates the epidermal growth factor receptor and fibroblast growth factor receptor signaling pathways involved in neural development and immune function. Our findings support a role for miRNA dysregulation in ASD pathophysiology and provide a rich data set and framework for future analyses of miRNAs in neuropsychiatric diseases.
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10. Yoo HJ, Kim BN, Kim JW, Shin MS, Park TW, Son JW, Chung US, Park M, Kim SA. {{Family-based genetic association study of CNTNAP2 polymorphisms and sociality endophenotypes in Korean patients with autism spectrum disorders}}. {Psychiatr Genet};2016 (Aug 29)
