Pubmed du 02/03/17

Pubmed du jour

2017-03-02 12:03:50

1. Belardi K, Watson LR, Faldowski RA, Hazlett H, Crais E, Baranek GT, McComish C, Patten E, Oller DK. {{A Retrospective Video Analysis of Canonical Babbling and Volubility in Infants with Fragile X Syndrome at 9-12 Months of Age}}. {J Autism Dev Disord};2017 (Mar 01)

An infant’s vocal capacity develops significantly during the first year of life. Research suggests early measures of pre-speech development, such as canonical babbling and volubility, can differentiate typical versus disordered development. This study offers a new contribution by comparing early vocal development in 10 infants with Fragile X syndrome and 14 with typical development. Results suggest infants with Fragile X syndrome produce fewer syllables and have significantly lower canonical babbling ratios compared to infants who are typically developing. Furthermore, the particular measures of babbling were strong predictors of group membership, adding evidence regarding the possible utility of these markers in early identification.

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2. Elias R, White SW. {{Autism Goes to College: Understanding the Needs of a Student Population on the Rise}}. {J Autism Dev Disord};2017 (Mar 02)

Understanding the needs of adolescents and emerging adults with Autism Spectrum Disorder (ASD) with respect to transition to postsecondary education is critical to development of user-informed transition programming. Parents of adolescents and emerging adults with ASD (n = 52) and ADHD (n = 47) completed an online survey. Social interaction training and independent living training were services frequently requested by parents in the ASD group. Additionally, parents of postsecondary students with ASD endorsed distinct challenges with self-advocacy, managing emotions, and managing personal/adaptive skills relative to postsecondary students with ADHD. The profile of parent-reported difficulties and needed services compared to transition to postsecondary education for students with ASD is distinguishable from that for ADHD, suggesting individualized transition planning and in-college supports.

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3. Groom MJ, Kochhar P, Hamilton A, Liddle EB, Simeou M, Hollis C. {{Atypical Processing of Gaze Cues and Faces Explains Comorbidity between Autism Spectrum Disorder (ASD) and Attention Deficit/Hyperactivity Disorder (ADHD)}}. {J Autism Dev Disord};2017 (Mar 02)

This study investigated the neurobiological basis of comorbidity between autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). We compared children with ASD, ADHD or ADHD+ASD and typically developing controls (CTRL) on behavioural and electrophysiological correlates of gaze cue and face processing. We measured effects of ASD, ADHD and their interaction on the EDAN, an ERP marker of orienting visual attention towards a spatially cued location and the N170, a right-hemisphere lateralised ERP linked to face processing. We identified atypical gaze cue and face processing in children with ASD and ADHD+ASD compared with the ADHD and CTRL groups. The findings indicate a neurobiological basis for the presence of comorbid ASD symptoms in ADHD. Further research using larger samples is needed.

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4. Hess M, Campagna EJ, Jensen KM. {{Low bone mineral density risk factors and testing patterns in institutionalized adults with intellectual and developmental disabilities}}. {J Appl Res Intellect Disabil};2017 (Mar 01)

BACKGROUND: Adults with intellectual or developmental disability (ID/DD) have multiple risks for low bone mineral density (BMD) without formal guidelines to guide testing. We sought to identify risk factors and patterns of BMD testing among institutionalized adults with ID/DD. METHODS: We evaluated risk factors for low BMD (Z-/T-score < -1) and patterns of BMD testing among adults with ID/DD receiving care at a state-run residential facility. Kruskal-Wallis, Fisher's exact and Pearson's chi-squared tests were used as appropriate. RESULTS: Of the 140 eligible patients, only 44% ever had BMD testing of which 89% had low BMD. Median age at diagnosis was 42 years old. Individuals with low BMD were more likely to be older, non-weight bearing, Caucasian and have severe cognitive delay. CONCLUSIONS: Adults with ID/DD in this facility had a high prevalence of low BMD. Further studies are needed to better characterize risk factors and inform screening within this high-risk population. Lien vers le texte intégral (Open Access ou abonnement)

5. Kramer JM, Ryan CT, Moore R, Schwartz A. {{Feasibility of electronic peer mentoring for transition-age youth and young adults with intellectual and developmental disabilities: Project Teens making Environment and Activity Modifications}}. {J Appl Res Intellect Disabil};2017 (Mar 01)

BACKGROUND: There is a need for mentoring interventions in which transition-age youth and young adults with intellectual and/or developmental disabilities (I/DD) participate as both mentors and mentees. Project TEAM (Teens making Environment and Activity Modifications) is a problem-solving intervention that includes an electronic peer-mentoring component. METHODS: Forty-two mentees and nine mentors with I/DD participated. The present authors analysed recorded peer-mentoring calls and field notes for mentee engagement, mentor achievement of objectives and supports needed to implement peer mentoring. RESULTS: Overall, mentees attended 87% of scheduled calls and actively engaged during 94% of call objectives. Across all mentoring dyads, mentors achieved 87% of objectives and there was a significant relationship between the use of supports (mentoring script, direct supervision) and fidelity. CONCLUSIONS: Transition-age mentees with I/DD can engage in electronic peer mentoring to further practice problem-solving skills. Mentors with I/DD can implement electronic peer mentoring when trained personnel provide supports and individualized job accommodations.

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6. Lim KK, Chong WH. {{Moderating Effect of Child’s Autism Spectrum Disorder (ASD) Diagnosis on Benefit Finding and Negative Affect of Parents}}. {Am J Orthopsychiatry};2017 (Mar 02)

Substantial empirical evidence has highlighted the psychological stress and negative well-being of parents whose children are diagnosed with autism spectrum disorder (ASD). It also indicated a need for understanding the mechanisms through which parents come to successfully meet the challenges of caregiving for these children whose condition are often characterized by persistent behavioral, social, and communication problems. This study seeks to explore the relationships between benefit finding and parental well-being and aims to bridge the research gaps in 3 ways. First, it seeks to examine the nature of relationships between benefit finding and parent positive and negative affect among parents whose children have ASD or other special needs. Second, we posit that this relationship would be moderated by the presence of ASD in the child. Third, we hypothesize that this moderation may vary with the children’s age. Three hundred and 2 parents responded to a self-report questionnaire. Specifically, for parents of children who are non-ASD, higher levels of perceived benefit finding were found to be associated with lower levels of negative affect, and this holds for those with young children below 7 years of age. For parents having a child with ASD, perceiving high or low levels of benefit did not mitigate their negative feelings regardless of the child’s age. The latter findings on the moderating effect of ASD diagnosis were unexpected and inconsistent with current research indications. These were discussed in the light of the literature, with potential implications for future research and practice. (PsycINFO Database Record

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7. Neville DN, Marin JR. {{Splenic Rupture and Liver Laceration in an Adolescent With Autism Spectrum Disorder}}. {Pediatr Emerg Care};2017 (Mar);33(3):213-215.

We report a case of a 16-year-old adolescent boy with autism who presented to the pediatric emergency department after falling from a standing position, with a relatively benign examination, who was found to have significant hemoperitoneum on the focused assessment with sonography in trauma examination.

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8. Rankine J, Li E, Lurie S, Rieger H, Fourie E, Siper PM, Wang AT, Buxbaum JD, Kolevzon A. {{Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Mar 02)

Phelan-McDermid syndrome (PMS) is a single-locus cause of developmental delay, autism spectrum disorder, and minimal verbal abilities. There is an urgent need to identify objective outcome measures of expressive language for use in this and other minimally verbal populations. One potential tool is an automated language processor called Language ENvironment Analysis (LENA). LENA was used to obtain over 542 h of audio in 18 children with PMS. LENA performance was adequate in a subset of children with PMS, specifically younger children and those with fewer stereotypic vocalizations. One LENA-derived language measure, Vocalization Ratio, had improved accuracy in this sample and may represent a novel expressive language measure for use in severely affected populations.

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9. Saskin A, Fulginiti V, Birch AH, Trakadis Y. {{Prevalence of four Mendelian disorders associated with autism in 2392 affected families}}. {J Hum Genet};2017 (Mar 02)

Autism spectrum disorder (ASD) is a neurobehavioral disorder with a heterogeneous genetic etiology. Based on the literature, several single-gene disorders, including Rett syndrome, Smith-Lemli-Opitz syndrome, PTEN hamartoma tumor syndrome and tuberous sclerosis, are associated with a high prevalence of ASD. We estimated the prevalence of these four conditions in a large cohort of patients using whole-exome sequencing data from 2392 families (1800 quads and 592 trios) with ASD from the National Database for Autism Research. Seven patients carried a pathogenic or likely pathogenic variant in either TSC1, TSC2, PTEN, DHCR7 or MECP2, with 6 out of 7 reportable variants occurring in PTEN (1 in 399).Journal of Human Genetics advance online publication, 2 March 2017; doi:10.1038/jhg.2017.16.

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10. Skuk VG, Palermo R, Broemer L, Schweinberger SR. {{Autistic Traits are Linked to Individual Differences in Familiar Voice Identification}}. {J Autism Dev Disord};2017 (Feb 28)

Autistic traits vary across the general population, and are linked with face recognition ability. Here we investigated potential links between autistic traits and voice recognition ability for personally familiar voices in a group of 30 listeners (15 female, 16-19 years) from the same local school. Autistic traits (particularly those related to communication and social interaction) were negatively correlated with voice recognition, such that more autistic traits were associated with fewer familiar voices identified and less ability to discriminate familiar from unfamiliar voices. In addition, our results suggest enhanced accessibility of personal semantic information in women compared to men. Overall, this study establishes a detailed pattern of relationships between voice identification performance and autistic traits in the general population.

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11. Sokolova E, Oerlemans AM, Rommelse NN, Groot P, Hartman CA, Glennon JC, Claassen T, Heskes T, Buitelaar JK. {{A Causal and Mediation Analysis of the Comorbidity Between Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD)}}. {J Autism Dev Disord};2017 (Mar 02)

Autism spectrum disorder (ASD) and Attention-deficit/hyperactivity disorder (ADHD) are often comorbid. The purpose of this study is to explore the relationships between ASD and ADHD symptoms by applying causal modeling. We used a large phenotypic data set of 417 children with ASD and/or ADHD, 562 affected and unaffected siblings, and 414 controls, to infer a structural equation model using a causal discovery algorithm. Three distinct pathways between ASD and ADHD were identified: (1) from impulsivity to difficulties with understanding social information, (2) from hyperactivity to stereotypic, repetitive behavior, (3) a pairwise pathway between inattention, difficulties with understanding social information, and verbal IQ. These findings may inform future studies on understanding the pathophysiological mechanisms behind the overlap between ASD and ADHD.

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12. Yui K, Tanuma N, Yamada H, Kawasaki Y. {{Decreased total antioxidant capacity has a larger effect size than increased oxidant levels in urine in individuals with autism spectrum disorder}}. {Environ Sci Pollut Res Int};2017 (Mar 01)

Oxidant/antioxidant imbalance may contribute to the pathophysiology of autism spectrum disorder (ASD). We assayed urinary levels of oxidative stress related biomarkers, hexanoyl-lysine (HEL), total antioxidant capacity (TAOC), the DNA methylation biomarker 8-hydroxy-2′-deoxyguanosine (8-OHdG), and plasma levels of superoxide dismutase (SOD), which is major antioxidant enzyme. We examined the relationship between these four biomarkers and social responsiveness in 20 individuals with ASD and in 11 healthy controls. The sex (ASD group, 7/13 vs. control group, 4/7) and age distributions (ASD group, 10.7 +/- 5.0 years vs. control group, 14.7 +/- 6.3 years) were not significantly different between the groups. Social responsiveness was assessed using the social responsiveness scale (SRS). We used standardized regression coefficients to measure the effect size. The ASD group exhibited significantly lower urinary TAOC levels and significantly elevated urinary HEL levels than the control group. Urinary 8-OHdG levels and plasma SOD levels were not significantly different between the groups. The ASD group showed significantly higher SRS scores than the control group. Plasma SOD levels correlated significantly with urinary TAOC levels. Standardized regression coefficients revealed that TAOC levels had a larger effect size than HEL levels in urine. This study firstly reveals that an imbalance between urinary HEL and TAOC levels in favor of urinary TAOC levels may contribute to impaired social responsiveness in individuals with ASD. Plasma SOD levels may also affect urinary TAOC levels.

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