1. Barney CC, Merbler AM, Quest K, Byiers BJ, Wilcox GL, Schwantes S, Roiko SA, Feyma T, Beisang A, Symons FJ. {{A case-controlled comparison of postoperative analgesic dosing between girls with Rett syndrome and girls with and without developmental disability undergoing spinal fusion surgery}}. {Paediatr Anaesth};2017 (Feb 08)
BACKGROUND: Rett syndrome is associated with severe motor and communicative impairment making optimal postoperative pain management a challenge. There are case reports documenting reduced postoperative analgesic requirement in Rett syndrome. AIM: The goal of this preliminary investigation was to compare postoperative analgesic management among a sample of girls with Rett syndrome compared to girls with and without developmental disability undergoing spinal fusion surgery. METHOD: The medical records of eight girls with Rett syndrome (mean age = 13.2 years, sd = 1.9), eight girls with developmental disability (cerebral palsy; mean age = 13.1 years, sd = 2.0), and eight girls without developmental disability (adolescent idiopathic scoliosis; mean age = 13.4, sd = 1.8) were reviewed. Data related to demographics, medications, and route of drug administration were recorded. RESULTS: Girls with Rett syndrome received significantly fewer morphine equivalent opioids postoperatively (M = 0.26 mg.kg-1 .day-1 , sd = 0.10) compared to girls with adolescent idiopathic scoliosis (M = 0.47mg.kg-1 .day-1 , sd = 0.13; 95% CI -0.34 to -0.08; P = 0.001) and girls with CP (M = 0.40 mg.kg-1 per day, sd = 0.14; 95% CI -0.27 to -0.02; P = 0.01). Girls with Rett syndrome received significantly fewer opioid patient-controlled analgesic (PCA) bolus doses (given by proxy; M = 42.63, sd = 17.84) compared to girls with adolescent idiopathic scoliosis (M = 98.25, sd = 52.77; 95% CI -96.42 to -14.83; P = 0.01). There was also some evidence indicating girls with Rett syndrome received fewer bolus doses compared to girls with CP (M = 80.88, sd = 38.93; 95% CI -79.05 to 2.55; P = 0.06). On average, girls with Rett syndrome also received smaller total doses of acetaminophen, diazepam, and hydroxyzine. CONCLUSION: This study highlights possible discrepancies in postoperative pain management specific to girls with Rett syndrome and suggests further investigation is warranted to determine best practice for postoperative analgesic management for this vulnerable patient population.
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2. Giserman Kiss I, Feldman MS, Sheldrick RC, Carter AS. {{Developing Autism Screening Criteria for the Brief Infant Toddler Social Emotional Assessment (BITSEA)}}. {J Autism Dev Disord};2017 (Feb 08)
There is a critical need for evidence-based, broadband behavioral, and ASD screening measures for use in pediatric and early educational settings to ensure that young children at risk for developing social-emotional disorders and/or ASD are provided with early intervention services to optimize long-term outcomes. The BITSEA is a 42-item screener designed to identify social-emotional/behavioral problems and delays/deficits in social-emotional competence among 11-48-month-olds; 19 items describe behaviors consistent with ASD. Secondary data analysis was employed to develop cut-scores for ASD subscales using Receiver Operating Curves, discriminating children with (n = 223) and without (n = 289) ASD. Cut-scores demonstrated moderate-to-high discriminative power, sensitivity, specificity, and PPV. Findings highlight feasibility of using a broadband social-emotional competence and behavior problem screener to improve early detection of ASD.
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3. Liu T, Chen Y, Chen D, Li C, Qiu Y, Wang J. {{Altered electroencephalogram complexity in autistic children shown by the multiscale entropy approach}}. {Neuroreport};2017 (Feb 08);28(3):169-173.
Autism spectrum disorder (ASD) is a severe neurodevelopment disorder. This study tests the hypothesis that children with ASD show atypical intrinsic complexity of brain activity. Electroencephalogram data were collected from boys with ASD and matching normal typically developing children while performing an observation and an imitation task. The multiscale entropy was estimated within the 0.5-30 Hz frequency band over 30 time scales using a coarse-grained procedure. A decreased electroencephalogram complexity was observed in the ASD children both during the observation and during the imitation tasks. On comparing the two tasks, significant differences were observed between groups in the right hemisphere, and also the central cortex for the observation task. Multiscale entropy could provide further evidence of the relationship between ASD and cerebral dysfunction.
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4. Maynard TM, Manzini MC. {{Balancing Act: Maintaining Amino Acid Levels in the Autistic Brain}}. {Neuron};2017 (Feb 08);93(3):476-479.
The ever-expanding number of genes that are mutated in autism is showing us how imbalances in fundamental cellular processes can lead to disease. A recent study by Tarlungeanu et al. (2016) identifies a form of ASD resulting from a failure of the brain to properly import amino acids.
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5. Mottron L. {{Should we change targets and methods of early intervention in autism, in favor of a strengths-based education?}}. {Eur Child Adolesc Psychiatry};2017 (Feb 08)
Early intensive behavioral intervention (EIBI) and its recent variant, naturalist developmental behavioral intervention (NDBI) aim to increase socialization and communication, and to decrease repetitive and challenging behaviors in preschool age autistic children. These behaviorist techniques are based on the precocity and intensity of the intervention, face-to-face interaction, errorless learning, and information fragmentation. Once considered to be « scientifically proven », the efficacy of these approaches has been called into question in the last decade due to poor-quality data, small effects, low cost-efficiency, and the evolution of ethical and societal standards. Grounded on a reappraisal of the genetic and cognitive neuroscience of autism, we question three aspects of EIBI/NDBI: their focus on prerequisites for typical socio-communicative behaviors, their lack of consideration of autistic language development and learning modes, and their negative view of repetitive behaviors and restricted interests. We propose alternative predictions for empirical validation, based on the strengths of prototypical autistic children: (a) their non-verbal intelligence should be normally distributed and within the normal range; (b) improving access to non-communicative verbal and written auditory language material should favor their subsequent speech development and
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6. Quartier A, Poquet H, Gilbert-Dussardier B, Rossi M, Casteleyn AS, Portes VD, Feger C, Nourisson E, Kuentz P, Redin C, Thevenon J, Mosca-Boidron AL, Callier P, Muller J, Lesca G, Huet F, Geoffroy V, El Chehadeh S, Jung M, Trojak B, Le Gras S, Lehalle D, Jost B, Maury S, Masurel A, Edery P, Thauvin-Robinet C, Gerard B, Mandel JL, Faivre L, Piton A. {{Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome}}. {Eur J Hum Genet};2017 (Feb 08)
Fragile-X syndrome (FXS) is a frequent genetic form of intellectual disability (ID). The main recurrent mutagenic mechanism causing FXS is the expansion of a CGG repeat sequence in the 5′-UTR of the FMR1 gene, therefore, routinely tested in ID patients. We report here three FMR1 intragenic pathogenic variants not affecting this sequence, identified using high-throughput sequencing (HTS): a previously reported hemizygous deletion encompassing the last exon of FMR1, too small to be detected by array-CGH and inducing decreased expression of a truncated form of FMRP protein, in three brothers with ID (family 1) and two splice variants in boys with sporadic ID: a de novo variant c.990+1G>A (family 2) and a maternally inherited c.420-8A>G variant (family 3). After clinical reevaluation, the five patients presented features consistent with FXS (mean Hagerman’s scores=15). We conducted a systematic review of all rare non-synonymous variants previously reported in FMR1 in ID patients and showed that six of them are convincing pathogenic variants. This study suggests that intragenic FMR1 variants, although much less frequent than CGG expansions, are a significant mutational mechanism leading to FXS and demonstrates the interest of HTS approaches to detect them in ID patients with a negative standard work-up.European Journal of Human Genetics advance online publication, 8 February 2017; doi:10.1038/ejhg.2016.204.
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7. Schenkelberg MA, Rosenkranz RR, Milliken GA, Menear K, Dzewaltowski DA. {{Implications of Social Groups on Sedentary Behavior of Children with Autism: A Pilot Study}}. {J Autism Dev Disord};2017 (Feb 08)
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.
