Pubmed du 21/01/14

Pubmed du jour

2014-01-21 12:03:50

1. Barnabei VM, Rasmusson RL, Bett GC. {{Autism and Induced Labor: Is Calcium a Potential Mechanistic Link?}}. {Am J Obstet Gynecol};2014 (Jan 16)

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2. Bockler A, Timmermans B, Sebanz N, Vogeley K, Schilbach L. {{Effects of Observing Eye Contact on Gaze Following in High-Functioning Autism}}. {J Autism Dev Disord};2014 (Jan 19)
Observing eye contact between others enhances the tendency to subsequently follow their gaze and has been suggested to function as a social signal that adds meaning to an upcoming action or event. The present study investigated effects of observed eye contact in high-functioning autism (HFA). Two faces on a screen either looked at or away from each other before providing congruent or incongruent gaze cues to one of two target locations. In contrast to control participants, HFA participants did not depict enhanced gaze following after observing eye contact. Individuals with autism, hence, do not seem to process observed mutual gaze as a social signal indicating the relevance of upcoming (gaze) behaviour. This may be based on the reduced tendency of individuals with HFA to engage in social gaze behavior themselves, and might underlie some of the characteristic deficiencies in social communicative behaviour in autism.

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3. Brollier C, Shepherd JT. {{Developmental Disabilities and Long-Term Mental IllnessNew Work Programs}}. {Work};1991 (Jan 1);1(2):45-54.

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4. Charles J, Goldsheyder D, Nordin M, Loebl D. {{The differences in perception of wheelchair performance between direct care and professional staff on a residential unit for individuals with severe developmental disabilities}}. {Work};1998 (Jan 1);11(2):173-182.

A pilot study was conducted on a residential unit in an institution for individuals with severe multiple physical and mental disabilities in order to compare the perceptions of direct care and professional staff members on the functional performance of wheelchairs. The study was a part of a collaborative research project with the OMRDD and School of Education, New York University that focused on enhancing the quality of life of those disabled individuals through the application of assistive technology. The results of the study showed a considerable discrepancy in the perceptions of wheelchair functional performance between two categories of care providers on the unit. The members of the direct care staff perceived the wheelchairs as low functioning in contrast to the members of the professional staff who perceived the same wheelchairs to be close to fully functional. The possible causes of the differences between the members of both categories of care providers on the unit regarding the functional performance of wheelchairs and their accommodation to the specific needs of the clients are discussed.

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5. Hartley C, Allen ML. {{Intentions vs. resemblance: Understanding pictures in typical development and autism}}. {Cognition};2014 (Jan 15);131(1):44-59.

Research has debated whether children reflect on artists’ intentions when comprehending pictures, or instead derive meaning entirely from resemblance. We explore these hypotheses by comparing how typically developing toddlers and low-functioning children with autism (a population impaired in intentional reasoning) interpret abstract pictures. In Experiment 1, both groups mapped familiar object names onto abstract pictures, however, they related the same representations to different 3-D referents. Toddlers linked abstract pictures with intended referents they did not resemble, while children with autism mapped picture-referent relations based on resemblance. Experiment 2 showed that toddlers do not rely upon linguistic cues to determine intended referential relations. Experiment 3 confirmed that the responding of children with autism was not due to perseveration or associative word learning, and also provided independent evidence of their intention-reading difficulties. We argue that typically developing children derive meaning from the social-communicative intentions underlying pictures when resemblance is an inadequate cue to meaning. By contrast, children with autism do not reflect on artists’ intentions and simply relate pictures to whatever they happen to resemble.

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6. King BH, Navot N, Bernier R, Webb SJ. {{Update on diagnostic classification in autism}}. {Curr Opin Psychiatry};2014 (Jan 16)
PURPOSE OF REVIEW: In the lead up to and following the recent publication of the DSM-5, the diagnostic construct of autism has received intense scrutiny. RECENT FINDINGS: This article briefly reviews the history of the diagnosis of autism, the changes that have occurred in the diagnosis over time, and the rationale for change. The most significant changes being introduced with the DSM-5 are highlighted, as well as some of the concerns that will be a focus of attention with respect to the potential impacts going forward. SUMMARY: The categorical divisions that characterized the pervasive developmental disorders are now collapsed into a single entity, autism spectrum disorder. The final DSM-5 criteria have yet to be formally compared prospectively against prior criteria, but early indications suggest that the boundaries around the pervasive developmental disorders have not been substantially altered.

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7. Moss AH, Gordon JE, O’Connell A. {{Impact of Sleepwise: An Intervention for Youth with Developmental Disabilities and Sleep Disturbance}}. {J Autism Dev Disord};2014 (Jan 18)
The prevalence of sleep disturbance among children with developmental disabilities is known to be considerably higher than the typical population. The current study examined the effectiveness of the Sleepwise intervention program (O’Connell and Vannan in Aust Occup Ther J 55:212-214, 2008): a parent-assisted group-based treatment for sleep disturbance which was recently adapted for older children and adolescents with DD. Twenty-six families with children aged 8-17 years participated. The study compared a treatment and a wait-list control group at baseline, post-treatment and 2 months post-treatment on measures of child and parent functioning. Results demonstrated that the Sleepwise approach was effective in reducing sleep disturbance and parent stress. Limitations and future research directions are discussed.

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8. Musser ED, Hawkey E, Kachan-Liu SS, Lees P, Roullet JB, Goddard K, Steiner RD, Nigg JT. {{Shared familial transmission of autism spectrum and attention-deficit/hyperactivity disorders}}. {J Child Psychol Psychiatry};2014 (Jan 21)
BACKGROUND: To determine whether familial transmission is shared between autism spectrum disorders and attention-deficit/hyperactivity disorder, we assessed the prevalence, rates of comorbidity, and familial transmission of both disorders in a large population-based sample of children during a recent 7 year period. METHODS: Study participants included all children born to parents with the Kaiser Permanente Northwest (KPNW) Health Plan between 1 January 1998 and 31 December 2004 (n = 35,073). Children and mothers with physician-identified autism spectrum disorders (ASD) and/or attention-deficit/hyperactivity disorder (ADHD) were identified via electronic medical records maintained for all KPNW members. RESULTS: Among children aged 6-12 years, prevalence was 2.0% for ADHD and 0.8% for ASD; within those groups, 0.2% of the full sample (19% of the ASD sample and 9.6% of the ADHD sample) had co-occurring ASD and ADHD, when all children were included. When mothers had a diagnosis of ADHD, first born offspring were at 6-fold risk of ADHD alone (OR = 5.02, p < .0001) and at 2.5-fold risk of ASD alone (OR = 2.52, p < .01). Results were not accounted for by maternal age, child gestational age, child gender, and child race. CONCLUSIONS: Autism spectrum disorders shares familial transmission with ADHD. ADHD and ASD have a partially overlapping diathesis.

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9. Nelson DL, Schau EM. {{Effects of a standing table on work productivity and posture in an adult with developmental disabilities}}. {Work};1997 (Jan 1);9(1):13-20.

The standing table is an assistive device designed to encourage occupational performance of the upper extremities while helping the person compensate for limitations in standing posture. We conducted three single-subject studies of a standing table used by a 52-year-old man with spastic cerebral palsy and mental retardation. In the first study, positioning in the standing table resulted in no discernible difference in work output per hour in comparison to his customary seated posture. In the second study, positioning in the standing table resulted in an unexpectedly small increase in work output in comparison to his customary method of standing without special support at the work bench. In the third study, we demonstrated that the standing table dramatically improved the erectness of his posture as measured by an infrared motion detector in comparison to his customary method of standing. Because work productivity depends on multiple factors, improved posture and biomechanical stability do no always result in a proportionate improvement in work output. There remain multiple justifications of equipment such as the standing table in work settings for adults with developmental disabilities.

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10. Paloscia C, Baglioni V, Alessandrelli R, Rosa C, Guerini R, Aceti F, Pasini A. {{[Executive function deficits in ADHD and Asperger syndrome]}}. {Riv Psichiatr};2013 (Nov-Dec);48(6):441-447.

Background. The aim of this study is to evaluate the executive functioning of children with attention deficit hyperactivity disorder combined subtype (ADHD-C) and Asperger syndrome (AS) compared to a control group. Methods. A sample of 79 children (28 ADHD-C; 24 AS; 27 subjects with typical development) was tested on a wide range of tasks related to major domains of executive functioning: inhibition response (prepotent and interference), visual working memory, planning and cognitive flexibility. Results. Patients with AS showed deficits on visual working memory and cognitive flexibility. ADHD-C children were impaired on inhibition control (prepotent response) but also showed deficits on working memory and cognitive flexibility. The only executive functioning measure that differentiated ADHD from AS was inhibition of prepotent response and a more high deficit in cognitive flexibility and working memory in AS compared to ADHD-C. Conclusions. This study confirms recent evidence about the identification of specific executive profiles in these disorders. Other studies are warranted to evaluate the presence and specifity of a dysexecutive syndrome in ADHD and AS in a larger sample with girls.

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11. Takumi T. {{[Autism spectrum disorders]}}. {Nihon Rinsho};2013 (Dec);71(12):2179-2181.

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12. van Heijst BF, Geurts HM. {{Quality of life in autism across the lifespan: A meta-analysis}}. {Autism};2014 (Jan 17)
Autism is a lifelong neurodevelopmental disorder, with a known impact on quality of life. Yet the developmental trajectory of quality of life is not well understood. First, the effect of age on quality of life was studied with a meta-analysis. Our meta-analysis included 10 studies (published between 2004 and 2012) with a combined sample size of 486 people with autism and 17,776 controls. Second, as there were no studies on quality of life of the elderly with autism, we conducted an empirical study on quality of life of the elderly (age range 53-83) with autism (N = 24) and without autism (N = 24). The meta-analysis showed that quality of life is lower for people with autism compared to people without autism, and that the mean effect is large (Cohen’s d = -0.96). Age did not have an effect on quality of life. The study concerning the elderly with autism showed that the difference in quality of life is similar in the elderly. Age, IQ and symptom severity did not predict quality of life in this sample. Across the lifespan, people with autism experience a much lower quality of life compared to people without autism. Hence, the quality of life seemed to be independent of someone’s age.

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13. Waltes R, Duketis E, Knapp M, Anney RJ, Huguet G, Schlitt S, Jarczok TA, Sachse M, Kampfer LM, Kleinbock T, Poustka F, Bolte S, Schmotzer G, Voran A, Huy E, Meyer J, Bourgeron T, Klauck SM, Freitag CM, Chiocchetti AG. {{Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders}}. {Hum Genet};2014 (Jan 19)
Autism spectrum disorders (ASD) are heterogeneous disorders with a high heritability and complex genetic architecture. Due to the central role of the fragile X mental retardation gene 1 protein (FMRP) pathway in ASD we investigated common functional variants of ASD risk genes regulating FMRP. We genotyped ten SNPs in two German patient sets (N = 192 and N = 254 families, respectively) and report association for rs7170637 (CYFIP1; set 1 and combined sets), rs6923492 (GRM1; combined sets), and rs25925 (CAMK4; combined sets). An additional risk score based on variants with an odds ratio (OR) >1.25 in set 1 and weighted by their respective log transmitted/untransmitted ratio revealed a significant effect (OR 1.30, 95 % CI 1.11-1.53; P = 0.0013) in the combined German sample. A subsequent meta-analysis including the two German samples, the « Strict/European » ASD subsample of the Autism Genome Project (1,466 families) and a French case/control (541/366) cohort showed again association of rs7170637-A (OR 0.85, 95 % CI 0.75-0.96; P = 0.007) and rs25925-G (OR 1.31, 95 % CI 1.04-1.64; P = 0.021) with ASD. Functional analyses revealed that these minor alleles predicted to alter splicing factor binding sites significantly increase levels of an alternative mRNA isoform of the respective gene while keeping the overall expression of the gene constant. These findings underpin the role of ASD candidate genes in postsynaptic FMRP regulation suggesting that an imbalance of specific isoforms of CYFIP1, an FMRP interaction partner, and CAMK4, a transcriptional regulator of the FMRP gene, modulates ASD risk. Both gene products are related to neuronal regulation of synaptic plasticity, a pathomechanism underlying ASD and may thus present future targets for pharmacological therapies in ASD.

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14. Weiner RH, Greene RL. {{Intention-Based Therapy for Autism Spectrum Disorder: Promising Results of a Wait-List Control Study in Children}}. {Explore (NY)};2014 (January – February);10(1):13-23.

BACKGROUND: Autism is a complex neurodevelopmental disability that usually manifests during the first three years of life and typically lasts throughout a person’s lifetime. The purpose of this study is to investigate the efficacy of NeuroModulation Technique (NMT), a form of intention-based therapy, in improving functioning in children diagnosed with autism. METHODS: A total of 18 children who met the study criteria were selected to participate. All children completed baseline measures. The children in the experimental group (n = 9) received two sessions a week of NMT for six weeks. Then, children in the wait-list control group (n = 9) received two sessions a week of NMT for six weeks. Primary efficacy outcome measures included the Pervasive Developmental Disorder Behavioral Inventory Autism Composite Index, the Aberrant Behavior Checklist-Community Total Score, and the Autism Treatment Evaluation Checklist Total Score. Our hypotheses were that children in both groups would show significant improvement over their respective baseline scores following NMT treatment, which would reflect an improvement in adaptive behaviors as well as a decrease in maladaptive behaviors. RESULTS: Statistical analysis indicates a significant improvement in both the experimental and wait-list control group on all primary outcome measures following NMT treatment. The wait-list control group demonstrated no significant improvement on test measures over baseline scores during the wait period. No adverse reactions were reported. CONCLUSIONS: These findings suggest that NMT is a promising intervention for autism that has the potential to produce a significant reduction in maladaptive behaviors and a significant increase in adaptive behaviors within a relatively short period of time.

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