Pubmed du 07/09/14

Pubmed du jour

2014-09-07 12:03:50

1. Anderson GM. {{Autism Biomarkers: Challenges, Pitfalls and Possibilities}}. {J Autism Dev Disord}. 2014 Sep 6.

Network perspectives, in their emphasis on components and their interactions, might afford the best approach to the complexities of the ASD realm. Categorical approaches are unlikely to be fruitful as one should not expect to find a single or even predominant underlying cause of autism behavior across individuals. It is possible that the complex, highly interactive, heterogeneous and individualistic nature of the autism realm is intractable in terms of identifying clinically useful biomarker tests. It is hopeful from an emergenic perspective that small corrective changes in a single component of a deleterious network/configuration might have large beneficial consequences on developmental trajectories and in later treatment. It is suggested that the relationship between ASD and intellectual disability might be fundamentally different in single-gene versus nonsyndromic ASD. It is strongly stated that available biomarker « tests » for autism/ASD will do more harm than good. Finally, the serotonin-melatonin-oxidative stress-placental intersection might be an especially fruitful area of biological investigation.

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2. Bowers K, Wink LK, Pottenger A, McDougle CJ, Erickson C. {{Phenotypic differences in individuals with autism spectrum disorder born preterm and at term gestation}}. {Autism}. 2014 Sep 5.

The objective of the study was to characterize the phenotype of males and females with autism spectrum disorder born preterm versus those born at term. Descriptive statistical analyses identified differences between male and female autism spectrum disorder subjects born preterm compared to term for several phenotypic characteristics and comorbidities. Of the 115 (13.0% of 883) born preterm, a greater percentage of males had sleep apnea (13.8% vs 2.5%, p < 0.0001), seizure disorders (17.0% vs 8.5%, p = 0.01), and attention-deficit/hyperactivity disorder (14.9% vs 6.6%, p = 0.005). Females born preterm were more likely to be nonverbal (22.2% vs 4.6%, p = 0.001). In summary, phenotypic differences were observed, especially among males. The results may have implications for understanding the underpinnings of a subset of individuals with autism spectrum disorder and contribute to the development of focused treatments for autism spectrum disorder among children born preterm.

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3. Dekker LP, Hartman CA, van der Vegt EJ, Verhulst FC, van Oort FV, Greaves-Lord K. {{The longitudinal relation between childhood autistic traits and psychosexual problems in early adolescence: The Tracking Adolescents’ Individual Lives Survey study}}. {Autism}. 2014 Sep 5.

Individuals with autistic traits are considered to be prone to develop psychosexual problems due to their limited social skills and insight. This study investigated the longitudinal relation between autistic traits in childhood (T1; age 10-12 years) and parent-reported psychosexual problems in early adolescence (T2; age 12-15 years). In a general population cohort study (n = 1873; the Tracking Adolescents’ Individual Lives Survey (TRAILS)), autistic traits and psychosexual problems were determined. Logistic regression analyses were used to investigate whether childhood autistic traits, in individuals displaying no psychosexual problems in childhood, predicted the presence of psychosexual problems in adolescence, while controlling for pubertal development and conduct problems. Higher levels of autistic traits at T1 significantly predicted mild psychosexual problems at T2, above and beyond pubertal development and conduct problems. Particularly two dimensions of autistic traits at T1 were significant predictors; i.e. ‘reduced contact/social interest’ and ‘not optimally tuned to the social situation’. Children with autistic traits – especially those with limited social interest and social regulation problems – showed to have a higher risk to develop psychosexual problems, albeit mild, in early adolescence as reported by parents. Although we showed that autistic traits predict psychosexual problems, it is only one of multiple predictors.

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4. Iadarola S, Hetherington S, Clinton C, Dean M, Reisinger E, Huynh L, Locke J, Conn K, Heinert S, Kataoka S, Harwood R, Smith T, Mandell DS, Kasari C. {{Services for children with autism spectrum disorder in three, large urban school districts: Perspectives of parents and educators}}. {Autism}. 2014 Sep 5.

This study used qualitative methods to evaluate the perceptions of parents, educators, and school administrators in three large, urban school districts (Los Angeles, Philadelphia, and Rochester) regarding services for children with autism spectrum disorder within the context of limited district resources. Facilitators followed a standard discussion guide that contained open-ended questions regarding participants’ views on strengths and limitations of existing services and contextual factors that would facilitate or inhibit the process of introducing new interventions. Three primary themes were identified: (1) tension between participant groups (teachers and paraprofessionals, staff and administration, teachers and parents, special education and general education teachers), (2) necessity of autism spectrum disorder-specific and behavioral training for school personnel, and (3) desire for a school culture of accepting difference. These themes highlight the importance of developing trainings that are feasible to deliver on a large scale, that focus on practical interventions, and that enhance communication and relationships of school personnel with one another and with families.

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5. Karst JS, Van Hecke AV, Carson AM, Stevens S, Schohl K, Dolan B. {{Parent and Family Outcomes of PEERS: A Social Skills Intervention for Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2014 Sep 6.

Raising a child with an Autism Spectrum Disorder (ASD) is associated with increased family chaos and parent distress. Successful long-term treatment outcomes are dependent on healthy systemic functioning, but the family impact of treatment is rarely evaluated. The Program for the Education and Enrichment of Relational Skills (PEERS) is a social skills intervention designed for adolescents with high-functioning ASD. This study assessed the impact of PEERS on family chaos, parenting stress, and parenting self-efficacy via a randomized, controlled trial. Results suggested beneficial effects for the experimental group in the domain of family chaos compared to the waitlist control, while parents in the PEERS experimental group also demonstrated increased parenting self-efficacy. These findings highlight adjunctive family system benefits of PEERS intervention and suggest the need for overall better understanding of parent and family outcomes of ASD interventions.

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6. Mari-Bauset S, Llopis-Gonzalez A, Zazpe-Garcia I, Mari-Sanchis A, Morales-Suarez-Varela M. {{Nutritional Status of Children with Autism Spectrum Disorders (ASDs): A Case-Control Study}}. {J Autism Dev Disord}. 2014 Sep 7.

Children with autism spectrum disorder (ASD) have problems of food selectivity, implying risks of nutritional deficiencies. The aim was to compare intakes of macro and micronutrients and body mass index in ASD and typically developing (TD) children. In a case-control study, 3-day food diaries and anthropometric measurements were completed for ASD (n = 40) and TD (n = 113) children (aged 6-10 years) living in the same area. Body mass indices were below the 5th percentile in 20 % of ASD versus 8.85 % of TD children. We found intakes were lower for fluoride (p = 0.017) and higher for vitamin E (p = 0.001). There was limited food variety and inadequacy of some intakes suggests that routine monitoring of ASD children should include assessment of their dietary habits, as well as anthropometric measurements.

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7. Neumeyer AM, O’Rourke JA, Massa A, Lee H, Lawson EA, McDougle CJ, Misra M. {{Brief Report: Bone Fractures in Children and Adults with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2014 Sep 6.

Peripubertal boys with autism spectrum disorder (ASD) have lower bone mineral density (BMD) than typically developing controls. However, it is not clear whether lower BMD in ASD results in an increased fracture rate. This study examined the rate of fractures in children and adults with and without ASD using a national database of emergency room visits (Nationwide Emergency Department Sample). A higher odds ratio for hip fractures in children and young adults (3-22 years) as well as older adults (23-50 years) with ASD than those without ASD, and a higher odds ratio for forearm and spine fractures in women ages 23-50 with ASD were found. Further studies are necessary to better understand the decreased bone density in ASD and its implications for fracture development.

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8. Okumura A, Yamamoto T, Miyajima M, Shimojima K, Kondo S, Abe S, Ikeno M, Shimizu T. {{3p Interstitial Deletion Including PRICKLE2 in Identical Twins With Autistic Features}}. {Pediatric neurology}. 2014 Jul 29.

BACKGROUND: Microdeletion and microduplication syndromes without characteristic dysmorphic features are difficult to diagnose without chromosomal microarrays. PATIENTS: We describe the clinical course and genetic findings of monozygotic twins with intellectual disabilities and autistic features associated with mild facial dysmorphism and microdeletion of chromosome 3p14. RESULTS: The postnatal course of the second twin was complicated by intestinal malrotation, whereas that of the first twin was unremarkable. Both twins had several mild dysmorphic features including upswept frontal hair, low-set posterior rotated ears, arched down-slanting eyebrows, prominent forehead, epicanthic folds, micrognathia, hypertelorism, broad nasal bridge, short philtrum, and camptodactyly of the bilateral fifth fingers. They had autistic features such as poor eye contact and no social smile, stereotyped behaviors, and preference for solitary play. Array comparative genomic hybridization analysis revealed de novo 6.88-Mb deletions of 3p14 (chr3: 60,472,496-67,385,119) involving 17 genes in both twins. The deleted region contained 17 genes, five of which are known or presumed to be related to central nervous system disorders: FEZF2, SYNPR, ATXN7, PRICKLE2, and MAGI1. CONCLUSIONS: We consider that PRICKLE2 is the most likely causative gene for the autistic features exhibited by these individuals.

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9. Pei F, Baldassi S, Norcia AM. {{Electrophysiological measures of low-level vision reveal spatial processing deficits and hemispheric asymmetry in autism spectrum disorder}}. {Journal of vision}. 2014;14(11).

There is accumulating evidence from electrophysiological studies that low-level visual processing is atypical in individuals with autism spectrum disorders (ASDs). Abnormalities in early stages of sensory processing are of interest because they could lead to downstream functional deficits in social or cognitive domains. Using steady-state visual evoked potentials (SSVEPs), we studied how well spatial information is transmitted over a wide range of spatial frequencies (2-30 cycles/deg), including those at the limit of visibility (visual acuity). SSVEPs were recorded over 128 channels in 16 ASD participants between 5 and 17 years old and 17 age-matched, neurotypical (NT) participants. We observed a selective reduction of the amplitude of the SSVEP second harmonic pattern reversal response between 5 and 17 cycles/deg. Responses measured at the fourth harmonic were normal at all spatial frequencies tested, as were responses at the lowest and highest spatial frequencies at the second harmonic. The reduction of second harmonic responses occurred preferentially over right occipital electrodes. Because response abnormalities are restricted to a specific response harmonic and to specific ranges of spatial frequency, we can rule out nonspecific differences between the ASD participants and the NT controls. This particular pattern of loss, combined with the observed exaggeration of the loss over the right hemisphere, suggests that a highly specific neural substrate early in the visual pathway is compromised in ASD.

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