1. Bornstein MH, Hendricks C. {{Screening for developmental disabilities in developing countries}}. {Social science & medicine (1982)}. 2012 Dec 14.
Despite waxing international interest in child disability, little information exists about the situation of children with disabilities in developing countries. Using a culture-free screen for child disability from the 2005-2007 Multiple Indicator Cluster Survey, this study reports percentages of children in 16 developing countries who screened positive for cognitive, language, sensory, and motor disabilities, covariation among disabilities, deviation contrasts that compare each country to the overall effect of country (including effects of age and gender and their interactions), and associations of disabilities with the Human Development Index. Developmental disabilities vary by child age and country, and younger children in developing countries with lower standards of living are more likely to screen positive for disabilities. The discussion of these findings revolves around research and policy implications.
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2. Byiers BJ, Tervo RC, Feyma TJ, Symons FJ. {{Seizures and Pain Uncertainty Associated With Parenting Stress and Rett Syndrome}}. {Journal of child neurology}. 2013 Jan 9.
Data were collected parenting stress, adaptive behavior, pain, and health issues from the caregivers of 35 girls and women with Rett syndrome (mean age = 20.3). A majority (60%) of parents reported stress in the clinical range on at least 1 subscale of the Parenting Stress Index-Short Form. Seizures and uncertainty about their daughter’s gastrointestinal pain experience were significantly associated with higher levels of parenting stress. No other child factors (adaptive behavior, age, residential status) were significantly related to parenting stress. Factors related to chronic health concerns (seizures, ambiguous pain presentation) may be important when considering family stress issues in relation to general outcomes for girls with Rett syndrome and related developmental disorders.
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3. Christie L, Wotton T, Bennetts B, Wiley V, Wilcken B, Rogers C, Boyle J, Turner C, Hansen J, Hunter M, Goel H, Field M. {{Maternal attitudes to newborn screening for fragile X syndrome}}. {Am J Med Genet A}. 2013 Jan 9.
Although fragile X syndrome (FXS) is the commonest cause of inherited intellectual disability the mean age of diagnosis in Australia is 5.5 years. Newborn screening for FXS can provide an early diagnosis, preventing the « diagnostic odyssey », allowing access to early interventions, and providing reproductive information for parents. Parents of affected children support newborn screening, but few clinical studies have evaluated community attitudes. A pilot study in 2009-2010 was performed in a tertiary hospital to explore feasibility and maternal attitudes. FXS testing of male and female newborns was offered to mothers in addition to routine newborn screening. Mothers were provided with information about FXS, inheritance pattern, carrier status, and associated adult-onset disorders. One thousand nine hundred seventy-one of 2,094 mothers (94%) consented to testing of 2,000 newborns. 86% completed the attitudinal survey and 10% provided written comments. Almost all parents (99%) elected to be informed of both premutation and full mutation status and there was little concern about identification of carrier status or associated adult-onset disorders. Most mothers (96%) were comfortable being approached in the postnatal period and supported testing because no extra blood test was required. Mothers considered an early diagnosis beneficial to help prepare for a child with additional needs (93%) and for reproductive planning (64%). Some were anxious about the potential test results (10%) and others felt their feelings towards their newborn may change if diagnosed with FXS (16%). High participation rates and maternal attitudes indicate a high level of maternal acceptance and voluntary support for newborn screening for FXS. (c) 2013 Wiley Periodicals, Inc.
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4. Dovgopoly A, Mercado E, 3rd. {{A connectionist model of category learning by individuals with high-functioning autism spectrum disorder}}. {Cognitive, affective & behavioral neuroscience}. 2013 Jan 9.
Individuals with autism spectrum disorder (ASD) show atypical patterns of learning and generalization. We explored the possible impacts of autism-related neural abnormalities on perceptual category learning using a neural network model of visual cortical processing. When applied to experiments in which children or adults were trained to classify complex two-dimensional images, the model can account for atypical patterns of perceptual generalization. This is only possible, however, when individual differences in learning are taken into account. In particular, analyses performed with a self-organizing map suggested that individuals with high-functioning ASD show two distinct generalization patterns: one that is comparable to typical patterns, and a second in which there is almost no generalization. The model leads to novel predictions about how individuals will generalize when trained with simplified input sets and can explain why some researchers have failed to detect learning or generalization deficits in prior studies of category learning by individuals with autism. On the basis of these simulations, we propose that deficits in basic neural plasticity mechanisms may be sufficient to account for the atypical patterns of perceptual category learning and generalization associated with autism, but they do not account for why only a subset of individuals with autism would show such deficits. If variations in performance across subgroups reflect heterogeneous neural abnormalities, then future behavioral and neuroimaging studies of individuals with ASD will need to account for such disparities.
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5. Eapen V, Rn Ec R, Walter A. {{Clinical outcomes of an early intervention program for preschool children with Autism Spectrum Disorder in a community group setting}}. {BMC pediatrics}. 2013 Jan 7;13(1):3.
ABSTRACT: BACKGROUND: Available evidence indicates that early intervention programs, such as the Early Start Denver Model (ESDM), can positively affect key outcomes for children with Autism Spectrum Disorder (ASD). However, programs involving resource intensive one-to-one clinical intervention are not readily available or deliverable in the community, resulting in many children with ASD missing out on evidence-based intervention during their early and most critical preschool years. This study evaluated the effectiveness of the ESDM for preschool-aged children with ASD using a predominantly group-based intervention in a community child care setting. METHODS: Participants were 26 children (21 male) with ASD with a mean age of 49.6 months. The ESDM, a comprehensive early intervention program that integrates applied behaviour analysis with developmental and relationship-based approaches, was delivered by trained therapists during the child’s attendance at a child care centre for preschool-aged children with ASD. Children received 15–20 hours of group-based, and one hour of one-to-one, ESDM intervention per week. The average intervention period was ten months. Outcome measures were administered pre- and post-intervention, and comprised a developmental assessment – the Mullen Scales of Early Learning (MSEL); and two parent-report questionnaires – the Social Communication Questionnaire (SCQ) and Vineland Adaptive Behaviours Scales–Second Edition (VABS-II). RESULTS: Statistically significant post-intervention improvements were found in children’s performance on the visual reception, receptive language and expressive language domains of the MSEL in addition to their overall intellectual functioning, as assessed by standardised developmental quotients. Parents reported significant increases in their child’s receptive communication and motor skills on the VABS-II, and a significant decrease in autism-specific features on the SCQ. These effects were of around medium size, and appeared to be in excess of what may have been expected due to maturation. Nonetheless, these results need to be confirmed in a controlled study. CONCLUSIONS: This study suggests community dissemination of ESDM using predominantly group-based intervention may be an effective intervention. Making ESDM accessible to the wider ASD community in child care settings has the potential for significant clinical and economic benefits. Further studies are indicated in this area, including those with younger children, and which incorporate a control group and standardised ASD assessments.Trial registration: This trial is registered with the Australian New Zealand Clinical Trials Registry: Registry number ACTRN12612000461897.
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6. Lauritsen MB. {{Autism spectrum disorders}}. {European child & adolescent psychiatry}. 2013 Jan 9.
The revision of the diagnostic criteria for ASD has been widely anticipated and is expected to be an important contribution to the refinement of the definition of ASD. In the upcoming DSM-5, several changes have been made compared to the previous diagnostic criteria. They include no emphasis on language delay and age of onset except that ASD is defined as a neurodevelopmental disorder with symptoms in early childhood although the disorder may first be diagnosed later in life. The three areas of impairments in ASD are reduced to two areas, namely a social-communication domain and a behavioral domain including fixated interests and repetitive behaviors. In addition, the clinical presentation of ASD in the individual is described in more detail in terms of clinical specifiers. In addition to reporting these changes in the classification, the major international guidelines are introduced and a brief description of good clinical practice of assessment and the overall principles of intervention is provided.
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7. Novogrodsky R. {{Subject pronoun use by children with autism spectrum disorders (ASD)}}. {Clinical linguistics & phonetics}. 2013 Feb;27(2):85-93.
In the current study, storytelling and story retelling by children with autism spectrum disorder (ASD) were analyzed to explore ambiguous third-person pronoun use in narratives. Twenty-three children diagnosed with ASD aged 6;1 to 14;3 and 17 typically-developing (TD) children aged 5;11 to 14;4 participated in the study. In the retelling task, no significant difference between the groups was found, suggesting that in less challenging tasks, children with ASD produce third-person subject pronouns appropriately. In the storytelling task, children with ASD produced more ambiguous third-person subject pronouns than did the TD children. The findings suggest a model in which children with ASD show deficits in the pragmatic domain of producing narratives.
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8. Qin M, Schmidt KC, Zametkin AJ, Bishu S, Horowitz LM, Burlin TV, Xia Z, Huang T, Quezado ZM, Smith CB. {{Altered cerebral protein synthesis in fragile X syndrome: studies in human subjects and knockout mice}}. {Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism}. 2013 Jan 9.
Dysregulated protein synthesis is thought to be a core phenotype of fragile X syndrome (FXS). In a mouse model (Fmr1 knockout (KO)) of FXS, rates of cerebral protein synthesis (rCPS) are increased in selective brain regions. We hypothesized that rCPS are also increased in FXS subjects. We measured rCPS with the L-[1-(11)C]leucine positron emission tomography (PET) method in whole brain and 10 regions in 15 FXS subjects who, because of their impairments, were studied under deep sedation with propofol. We compared results with those of 12 age-matched controls studied both awake and sedated. In controls, we found no differences in rCPS between awake and propofol sedation. Contrary to our hypothesis, FXS subjects under propofol sedation had reduced rCPS in whole brain, cerebellum, and cortex compared with sedated controls. To investigate whether propofol could have a disparate effect in FXS subjects masking usually elevated rCPS, we measured rCPS in C57Bl/6 wild-type (WT) and KO mice awake or under propofol sedation. Propofol decreased rCPS substantially in most regions examined in KO mice, but in WT mice caused few discrete changes. Propofol acts by decreasing neuronal activity either directly or by increasing inhibitory synaptic activity. Our results suggest that changes in synaptic signaling can correct increased rCPS in FXS.Journal of Cerebral Blood Flow & Metabolism advance online publication, 9 January 2013; doi:10.1038/jcbfm.2012.205.
