1. Al-Ansari AM, Ahmed MM. {{Epidemiology of autistic disorder in Bahrain: prevalence and obstetric and familial characteristics}}. {East Mediterr Health J};2013 (Sep);19(9):769-774.
European and North American studies show that the prevalence of autistic disorder is inccreasing. This study was performed to identify the prevalence of autistic disorder in Bahrain, and determine some of the demographic and family characteristics. Using a case-control design, 100 children who received a diagnosis of autistic disorder according to DSM-IV-TR during the period 2000-2010 were selected. An equal numberofcontrols who had received a diagnosis of nocturnal enuresis and no psychopathology were selected, matched for sex and age group. The prevalence of autistic disorder was estimated as 4.3 per 10,000 population, with a male:female sex ratio of 4:1. Significantly more cases than controls were delivered by caesarean section and had mothers who suffered prenatal complications. The prevalence estimate in Bahrain is comparable to previous reports using similar methods. Obstetric complications and caesarean section delivery may be associated with autistic disorder.
2. Anderson DK, Liang JW, Lord C. {{Predicting young adult outcome among more and less cognitively able individuals with autism spectrum disorders}}. {J Child Psychol Psychiatry};2013 (Dec 9)
BACKGROUND: The range of outcomes for young adults with Autism Spectrum Disorders (ASD) and the early childhood factors associated with this diversity have implications for clinicians and scientists. METHODS: This prospective study provided a unique opportunity to predict outcome 17 years later for a relatively large sample of children diagnosed with ASD at 2 years old. Diagnostic and psychometric instruments were administered between 2 and 19 with data from 2, 3, and 19 included in this study. Clinicians administered tests without knowledge of previous assessments whenever possible. Caregivers provided additional information through questionnaires. RESULTS: Significant intellectual disabilities at 19 were predicted by age 2 about 85% of the time from VIQ and NVIQ scores together, though prediction of young adult outcome for youths with average or higher intelligence was more complex. By 19, 9% of participants had largely overcome core difficulties associated with ASD and no longer retained a diagnosis. These youths with Very Positive Outcomes were more likely to have participated in treatment and had a greater reduction in repetitive behaviors between age 2 and 3 compared to other Cognitively Able youths (VIQ >/=70) with ASD. Very Positive Outcome youths did not differ phenotypically from Cognitively Able ASD individuals at 2 but both groups differed from Cognitively Less Able individuals (VIQ <70). CONCLUSION: Those most at risk for intellectual disabilities and ASD can be reliably identified at an early age to receive comprehensive treatment. Findings also suggest that some cognitively able children with ASD who participate in early intervention have very positive outcomes, although replication with randomized, larger samples is needed. In order to improve understanding of very positive outcomes in ASD, future research will need to identify how variations in child characteristics and environmental factors contribute to the nature and timing of growth across individuals and areas of development.
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3. Battistella M, Carlino C, Dugo V, Ponzo P, Franco E. {{[Vaccines and autism: a myth to debunk?]}}. {Ig Sanita Pubbl};2013 (Sep-Oct);69(5):585-596.
Thanks to vaccinations the incidence of many seriously debilitating or lifethreatening diseases and the resulting infant mortality or disability have been drastically reduced. In populations, who are no more aware of the risk of these infections, the attitude of suspicion and fear towards the vaccinations is expanding and in some cases reaches a worldwide media coverage as was the case for the measles, mumps and rubella vaccine (MMR). In 1998, a British doctor, Andrew Wakefield, and co-authors, published in « Lancet » a study in which he suggested the existence of « a new variant of autism » associated with intestinal inflammation. He proposed the administration of the MMR vaccine as a possible. cause of the inflammatory process. The hypothesis suggested by Wakefield led to a drastic drop in vaccination coverage in the UK and to the failure to achieve adequate levels of immunization in many countries, with a consequent increase in the incidence of measles and its complications. Wakefield work stimulated a broad discussion in the scientific community and many studies conducted over the next few years contradicted the research results of the English physician. In 2004, journalist Brian Deer conducted an accurate investigation that revealed how the Wakefield research presented many not regular aspects and was performed with predominantly economic objectives. In 2010, Wakefield was expelled from the General Medical Council, while the « Lancet » retracted the paper. The scientific research conducted in recent years confirm the inconsistency of the relationship between MMR vaccine and autism. The possible association with other factors, such as autoimmune processes, hyperactivation of mast cells in the hypothalamus, use of paracetamol in genetically predisposed children are currently investigated.
4. Bond S. {{EPIDEMIOLOGIC STUDY LINKS INDUCTION AND AUGMENTATION OF LABOR TO DIAGNOSIS OF AUTISM}}. {J Midwifery Womens Health};2013 (Dec 10)
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5. Brignell A, Morgan AT, Woolfenden S, Williams K. {{How relevant is the framework being used with autism spectrum disorder today?}}. {Int J Speech Lang Pathol};2013 (Dec 9)
Camarata (2014) provides a comprehensive summary of the current state of the research on early identification and intervention for children with autism spectrum disorders (ASD). Extending on the foundations provided by Camarata, this commentary discusses the value of a diagnosis of ASD and questions whether there is sufficient evidence on which to base continuing calls for early identification and ASD-specific intervention. Gaps are highlighted in the evidence base, suggestions made about how to fill those gaps, and an alternative framework is proposed for achieving best outcomes for children with early developmental problems of the type seen in ASD and their families.
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6. Cheslack-Postava K, Jokiranta E, Suominen A, Lehti V, Sourander A, Brown AS. {{Variation by Diagnostic Subtype in Risk for Autism Spectrum Disorders Associated with Maternal Parity among Finnish Births}}. {Paediatr Perinat Epidemiol};2014 (Jan);28(1):58-66.
BACKGROUND: Associations between maternal parity and outcomes in offspring may provide evidence for involvement of prenatal exposures. The objective of this study was to determine whether risk for autism spectrum disorders (ASD) is associated with maternal parity. METHODS: Diagnoses of childhood autism, Asperger syndrome, and pervasive developmental disorder, not otherwise specified (PDD-NOS) were examined separately and as a group. The study was conducted in the Finnish Prenatal Study of Autism, which is based in a national birth cohort. Children born in Finland in 1987-2005 and diagnosed with ASD by 2007 were identified through the Finnish Hospital Discharge Register. Four matched controls were selected for each case using the Finnish Medical Birth Register. The association between parity and each ASD was determined using conditional logistic regression and adjusted for number of children in the sibship and other potential confounders. RESULTS: ASDs combined showed a pattern of decreasing risk with increasing parity (odds ratio OR for fourth or greater vs. first-born children, 0.43 [95% confidence interval (CI): 0.35, 0.51]). For childhood autism, an adjusted OR of 1.51 [95% CI 1.27, 1.81] was observed for second vs. first-born children. Associations for Asperger syndrome and PDD-NOS were consistent with those for all ASDs. CONCLUSIONS: Differences in patterns of association between maternal parity and ASD subtypes may indicate varying contributions of specific environmental factors to risk; however, differences in diagnosis or in treatment seeking for childhood behavioural problems cannot be ruled out, particularly for higher functioning cases.
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7. Dardas LA, Ahmad MM. {{Quality of life among parents of children with autistic disorder: A sample from the Arab world}}. {Res Dev Disabil};2013 (Dec 3);35(2):278-287.
BACKGROUND: A growing body of research has sought to examine issues associated with the Quality of Life (QoL) of parents of children with Autistic Disorder. However, no studies have examined the QoL of Arab parents whose parenting experience is expected to be substantially different from that of their western counterparts. Therefore, the purposes of this study were: (1) to examine differences in the QoL between fathers and mothers of children with Autistic Disorder in a sample from an Arab country, and (2) to examine the psychosocial correlates of the QoL of Arab parents of children with Autistic Disorder. METHODS: Self-administered questionnaires on parents’ QoL, stress, coping strategies, and demographic characteristics were completed by 184 parents of children with Autistic Disorder. The participants were recruited using the convenience sampling design. RESULTS: Fathers and mothers of children with Autistic Disorder showed no significant differences in their physical, psychological, social, and environmental health. Further, both parents showed almost similar bivariate correlations between the reported QoL levels and their parenting stress, coping strategies, and demographic characteristics. CONCLUSION: This is the first study to examine the QoL of parents of children with Autistic Disorder in the Arab world and, in doing so, it highlighted the distinct lack of research in this area. The QoL of Arab parents of children with Autistic Disorder crosses lines with their stress levels, coping strategies, demographic characteristics, and to some extent their cultural context.
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8. de Klerk CC, Gliga T, Charman T, Johnson MH. {{Face engagement during infancy predicts later face recognition ability in younger siblings of children with autism}}. {Dev Sci};2013 (Dec 7)
Face recognition difficulties are frequently documented in children with autism spectrum disorders (ASD). It has been hypothesized that these difficulties result from a reduced interest in faces early in life, leading to decreased cortical specialization and atypical development of the neural circuitry for face processing. However, a recent study by our lab demonstrated that infants at increased familial risk for ASD, irrespective of their diagnostic status at 3 years, exhibit a clear orienting response to faces. The present study was conducted as a follow-up on the same cohort to investigate how measures of early engagement with faces relate to face-processing abilities later in life. We also investigated whether face recognition difficulties are specifically related to an ASD diagnosis, or whether they are present at a higher rate in all those at familial risk. At 3 years we found a reduced ability to recognize unfamiliar faces in the high-risk group that was not specific to those children who received an ASD diagnosis, consistent with face recognition difficulties being an endophenotype of the disorder. Furthermore, we found that longer looking at faces at 7 months was associated with poorer performance on the face recognition task at 3 years in the high-risk group. These findings suggest that longer looking at faces in infants at risk for ASD might reflect early face-processing difficulties and predicts difficulties with recognizing faces later in life.
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9. Grubb MA, Behrmann M, Egan R, Minshew NJ, Heeger DJ, Carrasco M. {{Exogenous spatial attention: Evidence for intact functioning in adults with autism spectrum disorder}}. {J Vis};2013;13(14)
Deficits or atypicalities in attention have been reported in individuals with autism spectrum disorder (ASD), yet no consensus on the nature of these deficits has emerged. We conducted three experiments that paired a peripheral precue with a covert discrimination task, using protocols for which the effects of covert exogenous spatial attention on early vision have been well established in typically developing populations. Experiment 1 assessed changes in contrast sensitivity, using orientation discrimination of a contrast-defined grating; Experiment 2 evaluated the reduction of crowding in the visual periphery, using discrimination of a letter-like figure with flanking stimuli at variable distances; and Experiment 3 assessed improvements in visual search, using discrimination of the same letter-like figure with a variable number of distractor elements. In all three experiments, we found that exogenous attention modulated visual discriminability in a group of high-functioning adults with ASD and that it did so in the same way and to the same extent as in a matched control group. We found no evidence to support the hypothesis that deficits in exogenous spatial attention underlie the emergence of core ASD symptomatology.
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10. Higashida H, Munesue T. {{[CD38 and autism spectrum disorders]}}. {No To Hattatsu};2013 (Nov);45(6):431-435.
We have demonstrated that CD38, a transmembrane protein with ADP-ribosyl cyclase activity, plays a critical role in mouse social behavior by regulating the release of oxytocin (OXT), which is essential for mutual recognition. When CD38 was disrupted, social amnesia was observed in Cd38 knockout mice. We investigated single nucleotide polymorphisms (SNPs) in the human CD38 gene in autism spectrum disorder (ASD) patients. The SNP rs3796863 (A>C) was associated with high-functioning autism (HFA) in American samples. Although this finding was partially confirmed in low-functioning autism subjects in Israel, it has not been replicated in Japanese HFA subjects. The second SNP of interest, rs1800561 (4693C>T), leads to the substitution of an arginine (R) at codon 140 by tryptophan (W;R140W) in CD38. This mutation was found in 4 probands of ASD and in family members of 3 pedigrees with variable levels of ASD or ASD traits. The plasma levels of OXT in ASD subjects with the R140W allele were lower than those in ASD subjects lacking this allele. One proband with the R140W allele receiving intranasal OXT for approximately 3 years showed improvement in areas of social approach, eye contact and communication behaviors, emotion, irritability, and aggression. Five other ASD subjects with mental deficits received nasal OXT for various periods;three subjects showed improved symptoms, while 2 showed little or no effect. These results suggest that SNPs in CD38 may be risk factors for ASD by abrogating the OXT function, and that some ASD subjects can be treated with OXT in preliminary clinical trials.
11. Lucas R, Norbury CF. {{Orthography facilitates vocabulary learning for children with autism spectrum disorders (ASD)}}. {Q J Exp Psychol (Hove)};2013 (Dec 9)
This study investigated the extent to which children with autism spectrum disorders (ASD) can use orthography to facilitate vocabulary learning, as is the case for typically developing (TD) children. Forty-one children aged 7-12 years, 20 with a formal diagnosis of ASD and 21 TD peers, were taught 16 low-frequency concrete science words, such as « breccia ». Half of the stimuli had the written word presented alongside a picture of the target item (orthography present: OP) while the remaining items were taught with orthography absent (OA). During the learning phase, eye movements were recorded; there were no group differences in the time spent fixating the written form. Production, comprehension, and recognition of orthographic forms of new words were assessed immediately after learning and again after a 24-hour delay. The vocabulary learning of both groups was facilitated by the presence of orthography. Overall, the groups did not differ in comprehension of new words or recognition of new orthographic forms, although the children with ASD demonstrated superior phonological learning (as measured by a picture naming task) relative to TD peers. Additionally, both groups retained or increased new knowledge after 24 hours. The results suggest that presenting the written form during oral vocabulary teaching will enhance learning and provide a mechanism for children with ASD to increase word knowledge despite potential limitations in social learning.
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12. Ptomey L, Goetz J, Lee J, Donnelly J, Sullivan D. {{Diet Quality of Overweight and Obese Adults with Intellectual and Developmental Disabilities as Measured by the Healthy Eating Index-2005}}. {J Dev Phys Disabil};2013 (Dec 1);25(6)
BACKGROUND: Little research has been conducted to examine diet quality of overweight and obese adults with intellectual and developmental disabilities (IDD) in the United States. The purpose of this study was to determine diet quality, as measured by the Healthy Eating Index-2005 (HEI-2005), of overweight and obese adults with IDD. METHODS: Data were obtained from community-dwelling overweight individuals. 3-day food records were administered and completed with assistance by staff or family members and then reviewed by a dietitian. All records were analyzed and HEI-2005 was calculated using NDSR output. RESULTS: 178 records were analyzed from 70 subjects (28 male, 42 female; mean age 33.9 +/-11.5 years). The mean energy intake was 1928 +/- 891 kcals and the mean total HEI-2005 score was 46.7+/- 11.5. Participants scored the lowest in total fruits, whole grains, dark green and orange vegetables, non-hydrogenated vegetable oils, and sodium. Both male and females had diets deficient in fiber, vitamin A, vitamin D, vitamin E, folate, and potassium. Additionally men were deficient in vitamin K, and women were deficient in calcium. CONCLUSIONS: Overweight and Obese adults with IDD had a lower HEI-2005 score compared to the general population and are at an increased risk of poor diet quality and nutritional deficiencies that could contribute to the development of diabetes, cardiovascular disease, cancer and other health complications.
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13. Savasi I, Jayasinghe K, Moore P, Jayasinghe Y, Grover SR. {{Complication Rates Associated with Levonorgestrel Intrauterine System Use in Adolescents with Developmental Disabilities}}. {J Pediatr Adolesc Gynecol};2013 (Dec 4)
STUDY OBJECTIVE: To assess the complication rates with the use of the levonorgestrel intrauterine system (LNG IUS) in adolescents with developmental disabilities. DESIGN: Retrospective chart review of all adolescents with developmental disabilities taken to the operating room for LNG IUS insertion between January 2000 and July 2009 at the Royal Children’s Hospital, Melbourne, Australia. Cases identified from the surgical database, and medical records reviewed. MAIN OUTCOME MEASURES: Complication rates with LNG IUS use in adolescents with development disabilities: non-insertion, uterine perforation, infection, and expulsion. RESULTS: Fifty-six adolescents with developmental disabilities had an attempted LNG IUS insertion. The average age at insertion was 15.6 years (range 10.5-21.5 y). The LNG IUS was used as first line therapy in 14 cases (25%). Pre-insertion ultrasonography was ordered in 48% of cases, out of which 5 cases had uterine lengths <6 cm. Despite this, 4 of these cases had successful insertions. Two insertion attempts were abandoned intra-operatively (3.6%); one due to inadequate uterine length of 4 cm, and the other due to anatomic distortion. One spontaneous expulsion occurred at approximately 5 months (1.9%). Four IUDs were removed prematurely (7.4% withdrawal rate); 1 for persistent abdominal pain, 1 for irregular bleeding, and 2 for suspected malpositions. There were no documented cases of infection, perforation, or pregnancy. CONCLUSION: Our experience in this population has been very positive and confirms that complication rates are comparable to that in adults.
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14. Starck T, Nikkinen J, Rahko J, Remes J, Hurtig T, Haapsamo H, Jussila K, Kuusikko-Gauffin S, Mattila ML, Jansson-Verkasalo E, Pauls DL, Ebeling H, Moilanen I, Tervonen O, Kiviniemi VJ. {{Resting state fMRI reveals a default mode dissociation between retrosplenial and medial prefrontal subnetworks in ASD despite motion scrubbing}}. {Front Hum Neurosci};2013;7:802.
In resting state functional magnetic resonance imaging (fMRI) studies of autism spectrum disorders (ASDs) decreased frontal-posterior functional connectivity is a persistent finding. However, the picture of the default mode network (DMN) hypoconnectivity remains incomplete. In addition, the functional connectivity analyses have been shown to be susceptible even to subtle motion. DMN hypoconnectivity in ASD has been specifically called for re-evaluation with stringent motion correction, which we aimed to conduct by so-called scrubbing. A rich set of default mode subnetworks can be obtained with high dimensional group independent component analysis (ICA) which can potentially provide more detailed view of the connectivity alterations. We compared the DMN connectivity in high-functioning adolescents with ASDs to typically developing controls using ICA dual-regression with decompositions from typical to high dimensionality. Dual-regression analysis within DMN subnetworks did not reveal alterations but connectivity between anterior and posterior DMN subnetworks was decreased in ASD. The results were very similar with and without motion scrubbing thus indicating the efficacy of the conventional motion correction methods combined with ICA dual-regression. Specific dissociation between DMN subnetworks was revealed on high ICA dimensionality, where networks centered at the medial prefrontal cortex and retrosplenial cortex showed weakened coupling in adolescents with ASDs compared to typically developing control participants. Generally the results speak for disruption in the anterior-posterior DMN interplay on the network level whereas local functional connectivity in DMN seems relatively unaltered.
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15. Stewart AM, Nguyen M, Wong K, Poudel MK, Kalueff AV. {{Developing zebrafish models of autism spectrum disorder (ASD)}}. {Prog Neuropsychopharmacol Biol Psychiatry};2013 (Dec 6)
Autism spectrum disorder (ASD) is a serious neurodevelopmental disorder with complex symptoms and unclear, multi-factorial pathogenesis. Animal (rodent) models of ASD-like behavior are extensively used to study genetics, circuitry and molecular mechanisms of ASD. The evolutionarily conserved nature of social behavior and its molecular pathways suggests that alternative experimental models can be developed to complement and enhance the existing rodent ASD paradigms. The zebrafish (Danio rerio) is rapidly becoming a popular model organism in neuroscience and biological psychiatry to study brain function, model human brain disorders and explore their genetic or pharmacological modulation. Representing highly social animals, zebrafish emerge as a strong potential model organism to study normal and pathological social phenotypes, as well as several other ASD-like symptoms. Here, we discuss the developing utility of zebrafish in modeling ASD as a new emerging field in translational neuroscience and drug discovery.
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16. Wang Y, Sakano H, Beebe K, Brown MR, de Laat R, Bothwell M, Kulesza RJ, Jr., Rubel EW. {{Intense and specialized dendritic localization of the fragile X mental retardation protein in binaural brainstem neurons — a comparative study in the Alligator, Chicken, Gerbil, and Human}}. {J Comp Neurol};2013 (Dec 9)
Neuronal dendrites are structurally and functionally dynamic in response to changes in afferent activity. The fragile X mental retardation protein (FMRP) is an mRNA binding protein that regulates activity-dependent protein synthesis and morphological dynamics of dendrites. Loss and abnormal expression of FMRP occur in fragile X syndrome (FXS) and some forms of autism spectrum disorders. To provide further understanding of how FMRP signaling regulates dendritic dynamics, we have examined dendritic expression and localization of FMRP in the reptilian and avian nucleus laminaris (NL) and its mammalian analogue, the medial superior olive (MSO), in rodents and humans. NL/MSO neurons are specialized for temporal processing of low frequency sounds for binaural hearing, which is impaired in FXS. Protein BLAST analyses first demonstrate that the FMRP amino acid sequences in the alligator and chicken are highly similar to human FMRP with identical mRNA-binding and phosphorylation sites, suggesting that FMRP functions similarly across vertebrates. Immunocytochemistry further reveals that NL/MSO neurons have very high levels of dendritic FMRP in low frequency hearing vertebrates including alligator, chicken, gerbil, and human. Remarkably, dendritic FMRP in NL/MSO neurons often accumulates at branch points and enlarged distal tips, loci known to be critical for branch-specific dendritic arbor dynamics. These observations support an important role for FMRP in regulating dendritic properties of binaural neurons that are essential for low frequency sound localization and auditory scene segregation, and support the relevance of studying this regulation in nonhuman vertebrates that use low frequencies in order to further understand human auditory processing disorders. J. Comp. Neurol., 2013. (c) 2013 Wiley Periodicals, Inc.
