1. Beltrame JM, Viera RA, Tamanaha AC, Arcuri CF, Osborn E, Perissinoto J, Schiefer AM. {{Comparison of pausing behavior in children who stutter and children who have Asperger syndrome}}. {J Fluency Disord};2011 (Dec);36(4):280-284.
PURPOSE: The objective of this research was to compare the number and types of grammatical and non-grammatical silent pauses presented by stutterers and subjects with Asperger syndrome in their narratives. METHOD: Ten children who stutter and four participants with Asperger syndrome (mean ages of both groups 10 years) were assessed at the Speech and Language Disorders Department of the Universidade Federal de Sao Paulo/Brasil. They narrated a story based on a pre-selected sequence of pictures. They were filmed and their productions were analyzed using version 5.0.47 of Praat (http://www.fon.hum.uva.nl/praat/download_win.html). Silent intervals in the speech that ranged from 0.25 to 4s were considered pauses. The pauses were classified as grammatical and non-grammatical, depending on the words that preceded and followed them. RESULTS: Both groups presented grammatical and non-grammatical pauses and the former predominated. The children with Asperger syndrome produced a greater number of pauses than the stutterers. Educational objectives: The reader will be able to: (1) characterize the use of pauses in the oral narrative; (2) distinguish a grammatical pause from a non-grammatical pause regarding the use and function; (3) recognize the pattern of pause found in the two populations.
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2. Evans TL, Blice-Baum AC, Mihailescu MR. {{Analysis of the Fragile X mental retardation protein isoforms 1, 2 and 3 interactions with the G-quadruplex forming semaphorin 3F mRNA}}. {Mol Biosyst};2011 (Dec 1)
Fragile X syndrome, the most prevalent inheritable mental retardation, is caused by the loss of fragile X mental retardation protein (FMRP) expression. FMRP is an RNA-binding protein with nucleo-cytoplasmic shuttle activity, proposed to act as a translation regulator of specific mRNAs in the brain. It has been shown that FMRP uses its arginine-glycine-glycine (RGG) box domain to bind a subset of mRNA targets that form a G-quadruplex structure. FMRP has also been shown to undergo the post-translational modifications of arginine methylation and phosphorylation, as well as alternative splicing, resulting in multiple isoforms. The alternative splice isoforms investigated in this study, isoform 1 (ISO1), isoform 2 (ISO2), and isoform 3 (ISO3), are created by the alternative splicing acceptor site at exon 15. FMRP ISO2 and ISO3 are truncated by 12 and 13 residues, respectively, relative to the longest FMRP isoform ISO1. These truncations, which are in the close proximity of the RGG box domain, preserve the integrity of the RGG box in all three isoforms, but eliminate the in vivo phosphorylation sites, present only on FMRP ISO1. We have expressed and purified recombinant FMRP ISO1, ISO2 and ISO3 in Escherichia coli, free of post-translational modifications, and by using fluorescence spectroscopy, we show that each FMRP isoform binds G-quadruplex RNA, albeit with different binding affinities, suggesting that naturally occurring sequence modifications in the proximity of the RGG box modulate its G-quadruplex RNA binding ability.
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3. Gastgeb HZ, Dundas EM, Minshew NJ, Strauss MS. {{Category Formation in Autism: Can Individuals with Autism Form Categories and Prototypes of Dot Patterns?}}. {J Autism Dev Disord};2011 (Dec 3)
There is a growing amount of evidence suggesting that individuals with autism have difficulty with categorization. One basic cognitive ability that may underlie this difficulty is the ability to abstract a prototype. The current study examined prototype and category formation with dot patterns in high-functioning adults with autism and matched controls. Individuals with autism were found to have difficulty forming prototypes and categories of dot patterns. The eye-tracking data did not reveal any between group differences in attention to the dot patterns. However, relationships between performance and intelligence in the autism group suggest possible processing differences between the groups. Results are consistent with previous studies that have found deficits in prototype formation and extend these deficits to dot patterns.
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4. Grody WW. {{Expanded carrier screening and the law of unintended consequences: From cystic fibrosis to fragile X}}. {Genet Med};2011 (Dec);13(12):996-997.
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5. Losh M, Esserman D, Anckarsater H, Sullivan PF, Lichtenstein P. {{Lower birth weight indicates higher risk of autistic traits in discordant twin pairs}}. {Psychol Med};2011 (Dec 2):1-12.
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder of complex etiology. Although strong evidence supports the causal role of genetic factors, environmental risk factors have also been implicated. This study used a co-twin-control design to investigate low birth weight as a risk factor for ASD.MethodWe studied a population-based sample of 3715 same-sex twin pairs participating in the Child and Adolescent Twin Study of Sweden (CATSS). ASD was assessed using a structured parent interview for screening of ASD and related developmental disorders, based on DSM-IV criteria. Birth weight was obtained from medical birth records maintained by the Swedish Medical Birth Registry. RESULTS: Twins lower in birth weight in ASD-discordant twin pairs (n=34) were more than three times more likely to meet criteria for ASD than heavier twins [odds ratio (OR) 3.25]. Analyses of birth weight as a continuous risk factor showed a 13% reduction in risk of ASD for every 100 g increase in birth weight (n=78). Analysis of the effect of birth weight on ASD symptoms in the entire population (most of whom did not have ASD) showed a modest association. That is, for every 100 g increase in birth weight, a 2% decrease in severity of ASD indexed by scores on the Autism – Tics, attention-deficit hyperactivity disorder (AD/HD), and other Comorbidities (A-TAC) inventory would be expected in the sample as a whole. CONCLUSIONS: The data were consistent with the hypothesis that low birth weight confers risk to ASD. Thus, although genetic effects are of major importance, a non-genetic influence associated with birth weight may contribute to the development of ASD.
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6. McDuffie AS, Lieberman RG, Yoder PJ. {{Object Interest in Autism Spectrum Disorder: A Treatment Comparison}}. {Autism};2011 (Dec 1)
A randomized control trial comparing two social communication treatments for children with autism spectrum disorder examined the effect of treatment on object interest. Thirty-two children, 18-60 months, were randomly assigned to the Picture Exchange Communication System (PECS) or Responsive Education and Prelinguistic Milieu Teaching (RPMT) condition. Assessment of object interest was conducted in an unstructured play session with different toys, activities, adult, and location than experienced in treatment. Results indicated children in the RPMT condition showed greater increases in object interest as compared to children in the PECS condition. Because child characteristics such as interest in objects may influence response to interventions using object play as contexts for treatment, it is important to improve our understanding of whether intervention can affect object interest.
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7. O’Keeffe N, McNicholas F. {{Paediatricians’ views on their role in the assessment and management of ADHD and autism}}. {Ir Med J};2011 (Oct);104(9):282-284.
ADHD and Autistic Spectrum Disorders (ASD) are a core component of paediatricians case work in the U.K. and U.S., but the situation in Ireland is less clear. Due to significant underdevelopment of Child and Adolescent Mental Health Services in Ireland, long waiting lists may delay identification and treatment. The aim of our study was to explore the views of a group of paediatricians in relation to their current and future practice of assessing and managing ADHD and ASD. The outcome of our study indicated that more than half of the paediatricians surveyed are directly involved in the assessment or treatment of ADHD and ASD. Eighty five per cent (85%) of paediatricians believed that they should have a role in the assessment of ADHD and ASD and over half had thought that they should be involved in managing ADHD and ASD. These results suggest that there is potential to develop alternative specialist services in Ireland for the identification and treatment of children with ADHD and ASD. The development of a well coordinated integrated care pathway may reduce waiting times for families and lead to easier access to services.
8. Visootsak J, Charen K, Rohr J, Allen E, Sherman S. {{Diagnosis of Fragile X Syndrome: A Qualitative Study of African American Families}}. {J Genet Couns};2011 (Dec 2)
Fragile X syndrome (FXS) is an inherited genetic condition with critical consequences to the proband and family members at all levels in the generations. Although evidence demonstrates that the rates of diagnosis for FXS are the same in all racial groups, age of diagnosis in African American children has been reported to occur later than in Caucasian children. Additionally, African American families are seriously under-represented in existing FXS research studies. As such, it is important to understand the possible disparities in the underlying factors to receiving a diagnosis in African American families with FXS. Herein, a qualitative approach was adopted to describe the overall FXS diagnosis experiences (pre-diagnosis, diagnosis, and post-diagnosis stages) of a convenience sample of 10 African American mothers. We identified three major findings among our participants: (1) FXS testing is not ordered immediately once a parent expresses concerns of developmental delays to the pediatricians, (2) the diagnosis is sometimes delivered in an insensitive manner with information often being outdated and unbalanced towards negative aspects, (3) communication issues among family members exists once the diagnosis is discovered. Although these qualitative data may not be representative of the whole group, these findings have significant implications for genetic counseling and our understanding in providing support and advocacy for African American families with FXS.
