1. Alfaro Arenas R, Rosell Andreo J, Heine Suner D. {{A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors}}. {J Genet Couns};2016 (Oct 7)
We report herein results of a study performed in the Balearic Islands which had the following goals: 1) Determine the proportion of pregnant or non-pregnant women planning pregnancy, who would choose to undergo a screening test for Fragile X Syndrome (FXS), if it is accompanied by the appropriate information; 2) Assess satisfaction and any increase in stress among women who participate in screening; 3) Collect epidemiological information about the incidence of the disease in our population; and 4) Collect demographic and health history data and assess participants’ awareness of the disease. Screening was performed on 3,731 pregnant and non-pregnant women of childbearing age and the results indicate: a very high voluntary rate of participation; a high level of self-reported satisfaction and low levels of stress because of the test; a very high incidence of premutation (1/106) in our population; and a low level of awareness about the existence of FXS (25 %). Additional findings indicate no significant correlation between self-reported health history and premutation detection, and the high premutation incidence does not seem to be specific to the indigenous Balearic population. Based on these results, we discuss the pros and cons of an implementation of preconception and pregnant women screening for FXS within a public health screening program.
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2. Finke EH. {{Friendship: Operationalizing the Intangible to Improve Friendship-Based Outcomes for Individuals With Autism Spectrum Disorder}}. {Am J Speech Lang Pathol};2016 (Oct 7):1-10.
Purpose: Individuals with autism spectrum disorder (ASD) have social deficits that affect making and maintaining friends. Many empirically tested methods to address these social deficits are available, yet difficulties related to the establishment and maintenance of authentic friendships persist. Method: This viewpoint article (a) briefly reviews the current state of the science relative to social and friendship skills training for individuals with ASD, (b) considers the potential links (or lack thereof) between current social and friendship skill interventions for individuals with ASD and outcomes related to making and maintaining friends, (c) examines how friendship-related outcomes might be maximized, and (d) proposes a framework for intervention planning that may promote these valued outcomes. Results: There are several key concepts to consider in planning intervention targeting friendship as an outcome. These concepts include (a) equal status, (b) mutually motivating and authentic opportunities for interaction, and (c) frequent opportunities for interaction. Conclusions: There are many aspects about friendship development that cannot be controlled or contrived. Much is still to be learned about the achievement of better friendships for individuals with ASD. Reconceptualizing the way we design intervention may promote better outcomes for individuals on the autism spectrum.
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3. Leyser M, Dias BL, Coelho AL, Vasconcelos M, Nascimento OJ. {{12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments}}. {Mol Cytogenet};2016;9:75.
BACKGROUND: Autism Spectrum Disorders (ASD) now encompass a broad heterogeneous group of people who present in the early developmental years with a wide range of social and communication deficits, which are typically also associated with complex repetitive behaviors and circumscribed interests. The target goal is to heighten readers’ perception into the trend to personalize the distinct autistic and related developmental conditions encompassing the 12p region. CASE PRESENTATION: This is a case-report of a 4-year-old male who presented the core signs of ASD, which were thought to be related to a rare 12p13.2 deletion. We further reviewed the literature in order to outline the related developmental conditions in the 12p region. Aside from this patient reported here, we found an additional number of 43 cases described in the medical literature since 1974, that have been related to deletions in the 12p region. However, to the best of our knowledge, none of the previous had been specifically linked to the 12p13.2 band. CONCLUSIONS: The 12p deletion spectrum is rarely described as part of the selective genotypes thought to be related to ASD. Even inside of a small piece of the puzzle, there might be ample variation in the behavioral and clinical phenotypes of children and adults presenting with this particular genetic profile. In that regard, the particular 12p13.2 distal deletion presentation is one of the possible genotypes encompassed by the « 12p deletion spectrum syndrome », that might be potentially connected to the diagnosis of ASD and related developmental disorders.
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4. Siper PM, Zemon V, Gordon J, George-Jones J, Lurie S, Zweifach J, Tavassoli T, Wang AT, Jamison J, Buxbaum JD, Kolevzon A. {{Rapid and Objective Assessment of Neural Function in Autism Spectrum Disorder Using Transient Visual Evoked Potentials}}. {PLoS One};2016;11(10):e0164422.
OBJECTIVE: There is a critical need to identify biomarkers and objective outcome measures that can be used to understand underlying neural mechanisms in autism spectrum disorder (ASD). Visual evoked potentials (VEPs) offer a noninvasive technique to evaluate the functional integrity of neural mechanisms, specifically visual pathways, while probing for disease pathophysiology. METHODS: Transient VEPs (tVEPs) were obtained from 96 unmedicated children, including 37 children with ASD, 36 typically developing (TD) children, and 23 unaffected siblings (SIBS). A conventional contrast-reversing checkerboard condition was compared to a novel short-duration condition, which was developed to enable objective data collection from severely affected populations who are often excluded from electroencephalographic (EEG) studies. RESULTS: Children with ASD showed significantly smaller amplitudes compared to TD children at two of the earliest critical VEP components, P60-N75 and N75-P100. SIBS showed intermediate responses relative to ASD and TD groups. There were no group differences in response latency. Frequency band analyses indicated significantly weaker responses for the ASD group in bands encompassing gamma-wave activity. Ninety-two percent of children with ASD were able to complete the short-duration condition compared to 68% for the standard condition. CONCLUSIONS: The current study establishes the utility of a short-duration tVEP test for use in children at varying levels of functioning and describes neural abnormalities in children with idiopathic ASD. Implications for excitatory/inhibitory balance as well as the potential application of VEP for use in clinical trials are discussed.
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5. Skalny AV, Simashkova NV, Klyushnik TP, Grabeklis AR, Radysh IV, Skalnaya MG, Nikonorov AA, Tinkov AA. {{Assessment of serum trace elements and electrolytes in children with childhood and atypical autism}}. {J Trace Elem Med Biol};2016 (Sep 29)
The existing data demonstrate a significant interrelation between ASD and essential and toxic trace elements status of the organism. However, data on trace element homeostasis in particular ASD forms are insufficient. Therefore, the objective of the present study was to assess the level of trace elements and electrolytes in serum of children with childhood and atypical autism. A total of 48 children with ASD (24 with childhood and 24 with atypical autism) and age- and sex-adjusted controls were examined. Serum trace elements and electrolytes were assessed using inductively-coupled plasma mass spectrometry. The obtained data demonstrate that children with ASD unspecified are characterized by significantly lower Ni, Cr, and Se levels as compared to the age- and sex-matched controls. At the same time, significantly decreased serum Ni and Se concentrations were detected in patients with childhood autism. In turn, children with atypical autism were characterized by more variable serum trace element spectrum. In particular, atypical autism is associated with lower serum Al, As, Ni, Cr, Mn, and Se levels in comparison to the control values. Moreover, Al and Mn concentration in this group was also lower than that in childhood autism patients. Generally, the obtained data demonstrate lower levels of both essential and toxic trace elements in atypical autism group, being indicative of profound alteration of trace elements metabolism. However, further detailed metabolic studies are required to reveal critical differences in metabolic pathways being responsible for difference in trace element status and clinical course of the disease.
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6. Umbricht D, Del Valle Rubido M, Hollander E, McCracken JT, Shic F, Scahill L, Noeldeke J, Boak L, Khwaja O, Squassante L, Grundschober C, Kletzl H, Fontoura P. {{A Single Dose, Randomized, Controlled Proof-of-Mechanism Study of a Novel Vasopressin 1a Receptor Antagonist (RG7713) in High-Functioning Adults with Autism Spectrum Disorder}}. {Neuropsychopharmacology};2016 (Oct 06)
The core symptoms of Autism Spectrum Disorder (ASD) include impaired social communication, repetitive behaviors and restricted interests. No effective pharmacotherapy for these core deficits exists. Within the domain of social communication, the vasopressin system is implicated in social cognition and social signaling deficits of ASD, and represents a potential therapeutic target. We assessed the effects of a single 20 mg intravenous dose of the arginine vasopressin receptor 1A (V1a) antagonist, RG7713, on exploratory biomarkers (eye-tracking), behavioral and clinical measures of social cognition and communication (affective speech recognition [ASR], reading the mind in the eyes [RMET], olfactory identification, scripted interaction), and safety and tolerability in a multicenter, randomized, double-blind, placebo-controlled, cross-over study of 19 high-functioning adult male subjects with DSM-IV Autistic Disorder (age 18-45 years; full scale IQ>70; ABC-Irritability subscale 13). Eye-tracking showed an increase in biological motion orienting preference with RG7713 (ES=0.8, p=0.047), and a non-significant improvement in the composite score (ES=0.2, p=0.29). RG7713 reduced ability to detect lust (ES=-0.8, p=0.03), and fear (ES=-0.7, p=0.07) in ASR. However, when all eight individual emotion subscales were combined into an overall ASR performance score, the reduction was non-significant (ES=-0.1, p=0.59). Thirteen adverse events were reported in 10 subjects; all were of mild (11/13) or moderate (2/13) severity. Although interpretation should be cautious due to multiple comparisons and small sample size, these results provide preliminary evidence from experimental and behavioral biomarkers, that blockade of the V1a receptor may improve social communication in adults with high-functioning ASD. ClinicalTrials.gov identifier: NCT01474278 A Study of RO5028442 in Adult Male High-Functioning Autistic Patients. Available at: http://clinicaltrials.gov/ct2/show/NCT01474278Neuropsychopharmacology accepted article preview online, 06 October 2016. doi:10.1038/npp.2016.232.
