Pubmed du 18/07/14

Pubmed du jour

2014-07-18 12:03:50

1. Cohen-Silver JH, Muskat B, Ratnapalan S. {{Autism in the Emergency Department}}. {Clin Pediatr (Phila)};2014 (Jul 15)
Background. This is a retrospective chart review of autistic patients presenting to the emergency department (ED) in a tertiary care pediatric center during the year 2011. Results. There were 160 ED visits by 130 patients, 25% of visits were repeated, and 20% were admitted to the hospital. There were 126 (79%) male and 34 (21%) female patients mean age of 12 years, 79% had comorbid health conditions. Forty percent were CTAS 2 (Canadian Triage Acuity Score) acuity, 42% of visits were CTAS 3 acuity, and 7% rated their pain as « severe. » Visits were for behavior (10%), neurological concern (13%), 3% dental related, and the remainder were for gastrointestinal infections and other complaints. Average length of stay was 6 hours 21 minutes, with 2-hour wait to start assessment with physician. Conclusions. Autism is a prevalent diagnosis and patients with autism are accessing the ED. We hope to use these demographic findings to better serve these patients and their families.

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2. Correia F, Cafe C, Almeida J, Mouga S, Oliveira G. {{Autism Spectrum Disorder: FRAXE Mutation, a Rare Etiology}}. {J Autism Dev Disord};2014 (Jul 18)
Autism spectrum disorder (ASD) is characterized by impaired social interaction and communication, restricted interests and repetitive behaviors. Fragile X E is associated with X-linked non-specific mild intellectual disability (ID) and with behavioral problems. Most of the known genetic causes of ASD are also causes of ID, implying that these two identities share common genetic bases. We present a child with an ASD with a normal range of intelligence quotient, that later evolved to compulsive behavior. FRAXE locus analysis by polymerase chain reaction revealed a complete mutation of the FMR 2 gene. This report stresses the importance of clinicians being aware of the association between a full mutation of FMR2 and ASD associated with compulsive behavior despite normal intellectual level.

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3. Fan YT, Cheng Y. {{Atypical mismatch negativity in response to emotional voices in people with autism spectrum conditions}}. {PLoS One};2014;9(7):e102471.

Autism Spectrum Conditions (ASC) are characterized by heterogeneous impairments of social reciprocity and sensory processing. Voices, similar to faces, convey socially relevant information. Whether voice processing is selectively impaired remains undetermined. This study involved recording mismatch negativity (MMN) while presenting emotionally spoken syllables dada and acoustically matched nonvocal sounds to 20 subjects with ASC and 20 healthy matched controls. The people with ASC exhibited no MMN response to emotional syllables and reduced MMN to nonvocal sounds, indicating general impairments of affective voice and acoustic discrimination. Weaker angry MMN amplitudes were associated with more autistic traits. Receiver operator characteristic analysis revealed that angry MMN amplitudes yielded a value of 0.88 (p<.001). The results suggest that people with ASC may process emotional voices in an atypical fashion already at the automatic stage. This processing abnormality can facilitate diagnosing ASC and enable social deficits in people with ASC to be predicted.

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4. Kushki A, Brian J, Dupuis A, Anagnostou E. {{Functional autonomic nervous system profile in children with autism spectrum disorder}}. {Mol Autism};2014;5:39.

BACKGROUND: Autonomic dysregulation has been recently reported as a feature of autism spectrum disorder (ASD). However, the nature of autonomic atypicalities in ASD remain largely unknown. The goal of this study was to characterize the cardiac autonomic profile of children with ASD across four domains affected in ASD (anxiety, attention, response inhibition, and social cognition), and suggested to be affected by autonomic dysregulation. METHODS: We compared measures of autonomic cardiac regulation in typically developing children (n = 34) and those with ASD (n = 40) as the children performed tasks eliciting anxiety, attention, response inhibition, and social cognition. Heart rate was used to quantify overall autonomic arousal, and respiratory sinus arrhythmia (RSA) was used as an index of vagal influences. Associations between atypical autonomic findings and intellectual functioning (Weschler scale), ASD symptomatology (Social Communication Questionnaire score), and co-morbid anxiety (Revised Children’s Anxiety and Depression Scale) were also investigated. RESULTS: The ASD group had marginally elevated basal heart rate, and showed decreased heart rate reactivity to social anxiety and increased RSA reactivity to the social cognition task. In this group, heart rate reactivity to the social anxiety task was positively correlated with IQ and task performance, and negatively correlated with generalized anxiety. RSA reactivity in the social cognition task was positively correlated with IQ. CONCLUSIONS: Our data suggest overall autonomic hyperarousal in ASD and selective atypical reactivity to social tasks.

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5. Troyb E, Orinstein A, Tyson K, Eigsti IM, Naigles L, Fein D. {{Restricted and Repetitive Behaviors in Individuals with a History of ASDs Who Have Achieved Optimal Outcomes}}. {J Autism Dev Disord};2014 (Jul 17)
Studies of autism spectrum disorders (ASDs) suggest that restricted and repetitive behaviors (RRBs) are particularly difficult to remediate. We examined present and past RRBs in 34 individuals who achieved optimal outcomes (OOs; lost their ASD diagnosis), 45 high-functioning individuals with ASD (HFA) and 34 typically developing (TD) peers. The OO group exhibited minimal residual RRBs at the time of the study. All OO participants were reported to have at least one RRB in early childhood and almost 90 % met the RRB cutoff for ASD in early childhood, but RRBs were not more present in the OO than the TD group at the time of the study. History of RRBs in the HFA and OO groups differed only in oversensitivity to noise and insistence on sameness. Reports of current behavior indicated that RRB’s had almost totally disappeared in the OO group. Thus, although RRB’s were present in the OO group in childhood, they resolved along with social and communication deficits.

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6. Wainer AL, Ingersoll BR. {{Increasing Access to an ASD Imitation Intervention Via a Telehealth Parent Training Program}}. {J Autism Dev Disord};2014 (Jul 18)
Systematic research focused on developing and improving strategies for the dissemination and implementation of effective ASD services is essential. An innovative and promising area of research is the use of telehealth programs to train parents of children with ASD in intervention techniques. A hybrid telehealth program, combining self-directed internet-based instruction with remote coaching, was created to introduce parents of children with ASD to an imitation intervention. A single-subject multiple-baseline design study evaluated the effect of the program on changes in parent and child behavior. Parents improved in their use of the intervention techniques and their children demonstrated concurrent increases in spontaneous imitation skills. Parents also indicated that the intervention and telehealth service delivery model were acceptable, useable, and effective. Results suggest that this hybrid telehealth program has the potential to increase access to ASD services.

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7. Yates D. {{Autism: Pinpointing common deficits}}. {Nat Rev Neurosci};2014 (Jul 18);15(8):493.

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