1. Abbott M, Bernard P, Forge J. {{Communicating a diagnosis of Autism Spectrum Disorder – a qualitative study of parents’ experiences}}. {Clin Child Psychol Psychiatry}. 2012.
Not enough is known about parents’ experiences of receiving the news that their child warrants a diagnosis of Autism Spectrum Disorder (ASD). Sharing this information with parents is an important and difficult part of Child and Adolescent Mental Health (CAMH) practice. Qualitative methodology was used to explore the experiences of the ‘feedback session’ with nine sets of parents in a community Child and Adolescent Mental Health Service (CAMHS) in North East England. Parents gave vivid accounts of their experiences and described issues relating to the structure, style and content of the session. The experiences of CAMHS users should inform the development of good practice in this important area.
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2. Crane L, Lind SE, Bowler DM. {{Remembering the past and imagining the future in autism spectrum disorder}}. {Memory}. 2012.
Recent research has revealed that episodic memory (remembering past experiences) and episodic future thinking (imagining future experiences) rely on the same underlying neuro-cognitive system. Consistent with this suggestion, individuals with autism spectrum disorder (ASD) have been shown to experience difficulties in both domains. In the present study 18 adults with ASD and 18 typical adults performed sentence completion tasks assessing the ability to generate past and future events. Contrary to previous research findings, results demonstrated that adults with ASD performed at an equivalent level to typical adults when generating both past and future events; generating a higher number of specific events when recalling past (relative to simulating future) events, and a higher number of semantic associates when simulating future (relative to recalling past) events. Results are discussed with respect to methodological factors affecting task performance in ASD including the social nature of the research, the need to verbalise memories to the experimenter, and whether or not the specific memory request is explicit.
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3. Croen L, Lutsky M, Yau V, Qian Y, Lynch F, Pearson K, Owen-Smith A, Davis R, Cummings J, Coleman K, Quinn V, Madden J, Lakoma M. {{CB7-03: A Diverse Autism Registry for Etiologic and Effectiveness Studies: Prevalence and Demographic Characteristics}}. {Clin Med Res}. 2012; 10(3): 183.
Background/Aims Diagnoses of Autism Spectrum Disorders (ASDs) continue to rise, yet few effectiveness studies of autism treatments exist. The major limitations to conducting such studies include locating, characterizing, and enrolling sufficiently large and representative ASD patient samples. This project has created a large, comprehensive, and dynamic ASD registry across five integrated not-for-profit health systems participating in the NIMH Mental Health Research Network (MHRN). This registry will enable rapid identification and enrollment of patients into large-scale studies investigating treatment interventions as well as pharmacogenomic and etiologic hypotheses. Methods Nine study sites compose the MHRN, which serve a diverse population of 10 million people in 11 states. The ASD registry is based in five MHRN sites: Kaiser Permanente (KP) Northern California, KP Southern California, KP Northwest, KP Georgia, and Harvard Pilgrim Health Plan. ASD registry investigators developed algorithms which identify children with ASD from electronic medical records and health claims data. ASD diagnoses are validated using structured record review and expert review. Diagnostic and demographic data recorded in health plan electronic databases from 1995-2010 on all 0-17 year olds who were health plan members as of December 2010 were used to describe ASD prevalence in this population. Results Overall prevalence of ASD was 1.2% (23,811/2,049,442), and ranged from 0.86% (458/53,297) to 1.6% (3,425/212,375) across all sites. Most ASD cases were 10-14 years old (36% (8,165/22,606), range: 35% (2,717/7,775) – 41% (617/1,515)) or 5-9 (35% (7,848/22,606), range: 30% (459/1,515) – 37% (161/432)). Fewer cases were 15-17 years old (18% (4,064/22,606), range: 16% (1,578/9,641) – 22% (329/1,515)) or 0-4 years old (11% (2,529/22,606), range: 7% (110/1,515) – 12% (1,159/9,641)). The overall ratio of male to female cases was 4.29 (range: 3.71-5.11). Of children diagnosed with an ASD, 59% were diagnosed with Autistic Disorder ((14,061/23,811), range: 33% (1,131/3,425) – 71% (7,154/10,068)). Discussion Demographic diversity and extensive electronic health records make this registry an ideal environment for studying ASDs. Future aims include investigating use of services not provided by HMOs, collection of genetic material from individuals and families with ASD’s, and harmonization of data from many sources such as birth certificates and census data.
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4. Frith U. {{Why we need cognitive explanations of autism}}. {Q J Exp Psychol (Hove)}. 2012.
[Formula: see text] In the 70 years since autism was described and named there have been huge changes in the conceptualization of this enigmatic condition. This review takes a personal perspective on the history of autism research. The origins of the first cognitive theories of autism, theory of mind and weak central coherence, are discussed and updated to inform future developments. Selected experimental findings are interpreted in the historical context of changes that have been brought about by advances in methodology. A three-level framework graphically illustrates a causal chain between brain, mind, and behaviour to facilitate the identification of phenotypes in neurodevelopmental disorders. Cognition is placed at the centre of the diagram to reveal that it can link together brain and behaviour, when there are complex multiple mappings between the different levels.
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5. Gamliel M, Ebstein R, Yirmiya N, Mankuta D. {{Minor fetal sonographic findings in autism spectrum disorder}}. {Obstet Gynecol Surv}. 2012; 67(3): 176-86.
Autism spectrum disorder (ASD) is more prevalent in the population than ever before. It is debatable whether this is a real increase in incidence, a change in the diagnostic criteria, or both. The diagnosis is usually made by age 3 years; therefore, obstetricians and fetal-maternal specialists generally display limited awareness of the disorder. Unlike fetuses with chromosomal diseases, which have distinctive physical anomalies, some fetuses that eventually will develop ASD have minor physical anomalies. This is even truer in pregnant women who already have a child with ASD. Those fetuses have a 20 times higher risk of developing ASD than the general population. The more frequent minor physical changes that may be potentially detected by ultrasound are as follows: changes in head circumference (that become more noticeable after 6 months of age), the ratio between the second and the fourth digits, left handedness, and palatal changes. Target Audience: Obstetricians, Maternal – Fetal Medicine specialists, Pediatricians, Sonographers Learning Objectives: After completing this CME activity, physicians should better able to classify the increasing prevalence of this disorder, and to assess the minor physical changes in fetuses that some may be seen on ultrasound during pregnancy.
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6. Henninger NA, Taylor JL. {{Outcomes in adults with autism spectrum disorders: a historical perspective}}. {Autism}. 2012.
In this review, we examine the ways in which researchers have defined successful adult outcomes for individuals with autism spectrum disorders (ASDs) from the first systematic follow-up reports to the present day. The earliest outcome studies used vague and unreliable outcome criteria, and institutionalization was a common marker of poor outcomes. In the past decade, researchers have begun to standardize the measurement of adult outcomes with specific criteria based on friendships, employment, and living arrangements. Although nearly all of these studies have agreed that the majority of adults with ASD have poor outcomes, evolving concepts of what it means to be an adult could have an impact on outcomes measured. For example, some researchers have suggested that taking into account the person-environment fit could reveal a more optimistic picture of outcomes for these adults. Suggestions for future research are discussed.
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7. Kleinhans NM, Pauley G, Richards T, Neuhaus E, Martin N, Corrigan NM, Shaw DW, Estes A, Dager SR. {{Age-related abnormalities in white matter microstructure in autism spectrum disorders}}. {Brain Res}. 2012.
Abnormalities in structural and functional connectivity have been reported in autism spectrum disorders (ASD) across a wide age range. However, developmental changes in white matter microstructure are poorly understood. We used a cross-sectional design to determine whether white matter abnormalities measured using diffusion tensor imaging (DTI) were present in adolescents and adults with ASD and whether age-related changes in white matter microstructure differed between ASD and typically developing (TD) individuals. Participants included 28 individuals with ASD and 33 TD controls matched on age and IQ and assessed at one time point. Widespread decreased fractional anisotropy (FA), and increased radial diffusivity (RaD) and mean diffusivity (MD) were observed in the ASD group compared to the TD group. In addition, significant group-by-age interactions were observed in FA, RaD, and MD in all major tracts except the brain stem, indicating that age-related changes in white matter microstructure differed between the groups. We propose that white matter microstructural changes in ASD may reflect myelination and/or other structural differences including differences in axonal density/arborization. In addition, we suggest that white matter microstuctural impairments may be normalizing during young adulthood in ASD. Future longitudinal studies that include a wider range of ages and more extensive clinical characterization will be critical for further uncovering the neurodevelopmental processes unfolding during this dynamic time in development.
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8. Kouijzer ME, van Schie HT, Gerrits BJ, Buitelaar JK, de Moor JM. {{Is EEG-biofeedback an Effective Treatment in Autism Spectrum Disorders? A Randomized Controlled Trial}}. {Appl Psychophysiol Biofeedback}. 2012.
EEG-biofeedback has been reported to reduce symptoms of autism spectrum disorders (ASD) in several studies. However, these studies did not control for nonspecific effects of EEG-biofeedback and did not distinguish between participants who succeeded in influencing their own EEG activity and participants who did not. To overcome these methodological shortcomings, this study evaluated the effects of EEG-biofeedback in ASD in a randomized pretest-posttest control group design with blinded active comparator and six months follow-up. Thirty-eight participants were randomly allocated to the EEG-biofeedback, skin conductance (SC)-biofeedback or waiting list group. EEG- and SC-biofeedback sessions were similar and participants were blinded to the type of feedback they received. Assessments pre-treatment, post-treatment, and after 6 months included parent ratings of symptoms of ASD, executive function tasks, and 19-channel EEG recordings. Fifty-four percent of the participants significantly reduced delta and/or theta power during EEG-biofeedback sessions and were identified as EEG-regulators. In these EEG-regulators, no statistically significant reductions of symptoms of ASD were observed, but they showed significant improvement in cognitive flexibility as compared to participants who managed to regulate SC. EEG-biofeedback seems to be an applicable tool to regulate EEG activity and has specific effects on cognitive flexibility, but it did not result in significant reductions in symptoms of ASD. An important finding was that no nonspecific effects of EEG-biofeedback were demonstrated.
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9. Lu C, Lin L, Tan H, Wu H, Sherman SL, Gao F, Jin P, Chen D. {{Fragile X Premutation RNA is Sufficient to Cause Primary Ovarian Insufficiency in Mice}}. {Hum Mol Genet}. 2012.
Spontaneous 46,XX primary ovarian insufficiency (POI), also known as « premature menopause » or « premature ovarian failure » (POF), refers to ovarian dysfunction that results in a range of abnormalities, from infertility to early menopause as the end stage. The most common known genetic cause of POI is the expansion of a CGG repeat to 55 to 199 copies (premutation) in the 5′ untranslated region in the X-linked fragile X mental retardation 1 (FMR1) gene. POI associated with the FMR1 premutation is referred to as fragile X-associated POI (FXPOI). Here we characterize a mouse model carrying the human FMR1 premutation allele and show that FMR1 premutation RNA can cause a reduction in the number of growing follicles in ovaries and is sufficient to impair female fertility. Alterations of selective serum hormone levels, including FSH, LH, and 17ss-estradiol, are seen in this mouse model, which mimics findings in humans. In addition, we also find that LH-induced ovulation-related gene expression is specifically altered. Finally, we show that the FMR1 premutation allele can lead to reduced phosphorylation of Akt and mTOR proteins. These results together suggest that FMR1 premutation RNA could cause the POI associated with FMR1 premutation carriers, and the Akt/mTOR pathway may serve as a therapeutic target for FXPOI.
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10. May T, Cornish K, Rinehart NJ. {{Gender Profiles of Behavioral Attention in Children With Autism Spectrum Disorder}}. {J Atten Disord}. 2012.
Objective: The attention profile of girls with autism spectrum disorder (ASD) is unclear compared with boys with ASD and typical children. This study aimed to investigate parent-reported ASD and ADHD symptoms in a large sample of boys and girls with and without ASD. Method: A total of 124 normally intelligent children, half of them girls, 64 with autistic disorder or Asperger’s disorder, and 60 age- and gender-matched typically developing, aged 7 to 12 years, were recruited. Parents completed questionnaires regarding autistic and ADHD symptoms. Results: No gender differences in social difficulties but more repetitive motor movements, communication difficulties, and inattention were reported in males, regardless of group. Younger boys with ASD had more elevated levels of hyperactivity-impulsivity than younger girls with ASD. Conclusion: Gender differences in autistic symptoms and inattention in ASD reflected gender differences in typical children. More pronounced hyperactivity in younger boys with ASD could contribute to higher rates of clinical referral than girls. (J. of Att. Dis. 2012; XX(X) 1-XX).
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11. McConkey R, Samadi SA. {{The impact of mutual support on Iranian parents of children with an autism spectrum disorder: a longitudinal study}}. {Disabil Rehabil}. 2012.
Purpose: In less affluent countries with scarce professional resources, the mutual support from family and other parents may form the main assistance available to parents of children with developmental disabilities. However, few studies have attempted to promote mutual support among parents. Method: 28 mothers and fathers who attended a group-based training course on autism spectrum disorders were followed up after 12 months. Qualitative and quantitative data on parental well-being were gathered at three time points: before, 3 months after the course and then again 12 months later. Results: Eight parents (@ 30%) maintained contact with one another over the year and this grouping provided a natural experiment with those who had no further contact. All parents maintained improvements on self-rated health and family functioning but these tended to be greater for those who had maintained contact with one another. The post-training gains on parental stress had reverted to baseline levels for both groups. Conclusions: Despite opportunities to do so, most of these Iranian parents chose not to seek support from other families which may reflect cultural dispositions. Those that did so, found the contact beneficial although further training may assist with daily stresses of parenting a child with autism spectrum disorders.
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12. Neal D, Matson JL, Hattier MA. {{A comparison of diagnostic criteria on the Autism Spectrum Disorder Observation for Children (ASD-OC)}}. {Dev Neurorehabil}. 2012.
Background: The Autism Spectrum Disorder Observation for Children (ASD-OC) is a new observation scale used to assess autistic symptomatology. As the publication of the fifth edition Diagnostic and Statistical Manual (DSM) is approaching, exploring the effect of the changing DSM criteria has begun to occur. Objective: The aim of this study was to compare severity of autistic impairment in children diagnosed with either the DSM-IV-TR or the DSM-5. Methods: ASD-OC total scores were compared between 63 children (3-15 years) in one of three groups: DSM-IV-TR group, DSM-5 group or control group. Results: The DSM-5 and DSM-IV-TR groups evinced significantly higher ASD-OC scores as compared to the control group; however, there were no significant differences between the DSM-5 and DSM-IV-TR groups in symptom severity. Conclusion: Many children who are currently diagnosed with ASD may no longer be diagnosed, despite having significant impairments roughly equal to those who meet DSM-5 criteria.
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13. Nissenkorn A, Ben-Zeev B. {{Unilateral Rhythmic Hand Tapping in Rett Syndrome: Is This Stereotypy?}}. {J Child Neurol}. 2012.
Rett syndrome is a severe neurodevelopmental disorder, with hand stereotypies as a hallmark of the disease. Epilepsy is a frequent comorbidity and is accompanied by centrotemporal spikes on electroencephalogram, but stereotypic movements should not have epileptiform correlates. During routine video-electroencephalographic investigation in 5 Rett syndrome patients, we identified a peculiar type of unilateral, highly rhythmic hand tapping accompanied by contralateral synchronous centrotemporal spikes on electroencephalography. This phenomenon is not consistent with either reflex seizures or hand stereotypies and does not respond to antiepileptic drugs. The electroencephalographic activity probably represents evoked potentials, either somatosensory or motor, whereas the rhythmic activity raises the possibility of a subcortical pacemaker for a stereotypy variant. The phenomenon could be caused by abnormal circuitry among the hyperexcitable somatosensory cortex, motor cortex, and subcortical areas in Rett syndrome. Clinicians should be aware of the nonepileptic nature of this motor behavior and should not attempt to treat it.
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14. Roselli F. {{Down syndrome DSCR1 causes spine pathology via the Fragile X-related protein FMRP}}. {EMBO J}. 2012.
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15. Subramaniam P, Gupta M. {{Oral health status of autistic children in India}}. {J Clin Pediatr Dent}. 2011; 36(1): 43-7.
Autism is one of the most severe childhood neuropsychiatric disorders. Autistic individuals are characterized by impairment in social interaction with a restricted range of interests and often, stereotyped repetitive behaviors. Studies on oral health conditions in children with autism are sparse. The complicated disability itself makes clinical research difficult. AIM: The need for baseline information regarding the oral health status of children with autism is essential. METHOD: The present study assessed the oral health status of 106 autistic children aged 4 to 15 years in Bangalore city, India. The dental caries was recorded according to the WHO criteria; oral hygiene was assessed using the oral hygiene index-simplified (OHI-S) and its modification for deciduous dentition. The behavior of children towards dental treatment was also assessed using the Frankel’s behavior rating scale. Data obtained was subjected to statistical analysis. RESULTS: showed that caries experience among autistic children was lower; however they were found to have more debris and calculus deposits. CONCLUSIONS: Negative behavior towards dental treatment was seen in autistic children.
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16. Winarni TI, Chonchaiya W, Sumekar TA, Ashwood P, Morales GM, Tassone F, Nguyen DV, Faradz SM, Van de Water J, Cook K, Hamlin A, Mu Y, Hagerman PJ, Hagerman RJ. {{Immune-mediated disorders among women carriers of fragile X premutation alleles}}. {Am J Med Genet A}. 2012.
The relative risk of immune-mediated disorders (IMDs) among women carriers of premutation alleles is estimated by a survey for IMDs among 344 carrier women (age 19-81 years; mean 46.35 and SD 12.60) and 72 controls (age 18-87 years; mean 52.40 and SD 15.40). One hundred fifty four (44.77%) women carrier had at least one IMD, as did 20 controls (27.78%). Among women carriers, autoimmune thyroid disorder was the most common (24.4%), then fibromyalgia (10.2%), irritable bowel syndrome (IBS; 9.9%), Raynaud’s phenomenon (7.6%), rheumatoid arthritis (RA; 3.8%), Sjogren syndrome (2.6%), systemic lupus erythematosus (SLE; 2.03%), multiple sclerosis (1.74%). Of 55 carriers age 40 or older with FXTAS, 72.73% had at least one IMD, compared to 46.54% of those without FXTAS (n = 159), and 31.58% of controls (n = 57). The estimated odds ratio (OR) for IMD is 2.6 (95% CI 1.2-5.6, P = 0.015) for women with FXTAS relative to those without FXTAS; the likelihood of IMD in carriers without or with FXTAS was also significantly higher than for controls (OR 2.1, 95% CI 1.1-4.2, P = 0.034; OR 5.5, 95% CI 2.4-12.5, P < 0.001, respectively). Similarly, the odds of having an IMD among carriers with FXPOI is about 2.4 times higher when compared to carriers without FXPOI (95% CI 1.1-5.0; P = 0.021). The likelihood of IMD in carriers with or without FXPOI is greater (OR 2.4, 95% CI 1.1-5.0; P = 0.021) compared to that of controls. (c) 2012 Wiley Periodicals, Inc.
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17. Xu X, Xu Q, Zhang Y, Zhang X, Cheng T, Wu B, Ding Y, Lu P, Zheng J, Zhang M, Qiu Z, Yu X. {{A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections}}. {BMC Med Genet}. 2012; 13(1): 75.
ABSTRACT: BACKGROUND: Autistic spectrum disorders (ASDs) are a family of neurodevelopmental disorders with strong genetic components. Recent studies have shown that copy number variations in dosage sensitive genes can contribute significantly to these disorders. One such gene is the transcription factor MECP2, whose loss of function in females results in Rett syndrome, while its duplication in males results in developmental delay and autism. CASE PRESENTATION: Here, we identified a Chinese family with two brothers both inheriting a 2.2 Mb MECP2-containing duplication (151,369,305 — 153,589,577) from their mother. In addition, both brothers also had a 213.7 kb duplication on Chromosome 2, inherited from their father. The older brother also carried a 48.4 kb duplication on Chromosome 2 inherited from the mother, and a 8.2 kb deletion at 11q13.5 inherited from the father. Based on the published literature, MECP2 is the most autism-associated gene among the identified CNVs. Consistently, the boys displayed clinical features in common with other patients carrying MECP2 duplications, including intellectual disability, autism, lack of speech, slight hypotonia and unsteadiness of movement. They also had slight dysmorphic features including a depressed nose bridge, large ears and midface hypoplasia. Interestingly, they did not exhibit other clinical features commonly observed in American-European patients with MECP2 duplication, including recurrent respiratory infections and epilepsy. CONCLUSIONS: To our knowledge, this is the first identification and characterization of Chinese Han patients with MECP2-containing duplications. Further cases are required to determine if the above described clinical differences are due to individual variations or related to the genetic background of the patients.
