1. Abu-Akel AM, Apperly IA, Wood SJ, Hansen PC. {{Autism and psychosis expressions diametrically modulate the right temporo-parietal junction}}. {Soc Neurosci};2016 (May 17)
The mentalizing network is atypically activated in autism and schizophrenia spectrum disorders. While these disorders are considered diagnostically independent, expressions of both can co-occur in the same individual. We examined the concurrent effect of autism traits and psychosis proneness on the activity of the mentalizing network in 24 neurotypical adults while performing a social competitive game. Activations were observed in the paracingulate cortex and the right temporo-parietal junction (rTPJ). Autism traits and psychosis proneness did not modulate activity within the paracingulate or the dorsal component of the rTPJ. However, diametric modulations of autism traits and psychosis proneness were observed in the posterior (rvpTPJ) and anterior (rvaTPJ) subdivisions of the ventral rTPJ, which respectively constitute core regions within the mentalizing and attention-reorienting networks. Within the rvpTPJ, increasing autism tendencies decreased activity, and increasing psychosis proneness increased activity. This effect was reversed within the rvaTPJ. We suggest that this results from an interaction between regions responsible for higher level social cognitive processing (rvpTPJ) and regions responsible for domain-general attentional mechanism (rvaTPJ). The observed diametric modulation of autism tendencies and psychosis proneness of neuronal activity within the mentalizing network highlights the importance of assessing both autism and psychosis expressions within the individual.
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2. Allely CS, Wilson P, Minnis H, Thompson L, Yaksic E, Gillberg C. {{Violence is Rare in Autism: When It Does Occur, Is It Sometimes Extreme?}}. {J Psychol};2016 (May 16):1-20.
A small body of literature has suggested that, rather than being more likely to engage in offending or violent behavior, individuals with autism spectrum disorder (ASD) may actually have an increased risk of being the victim rather than the perpetrator of violence (Sobsey, Wells, Lucardie, & Mansell, 1995 ). There is no evidence that people with ASD are more violent than those without ASD (Im, 2016). There is nevertheless a small subgroup of individuals with ASD who exhibit violent offending behaviours and our previous work has suggested that other factors, such as adverse childhood experiences, might be important in this subgroup (Allely, Minnis, Thompson, Wilson, & Gillberg, 2014 ). Fitzgerald ( 2015 ) highlights that school shootings and mass killings are not uncommonly carried out by individuals with neurodevelopmental disorders, with frequent evidence of warning indicators. The aim of the present review is to investigate this in more detail using the 73 mass shooting events identified by Mother Jones (motherjones.com) in their database for potential ASD features. There are 73 mass shooting events but there are two events where there is a pair of shooters which meant that 75 mass shooter cases were investigated. This exercise tentatively suggests evidence of ASD in six of 75 included cases (8%) which is about eight times higher when compared to the prevalence of ASD found in the general population worldwide (motherjones.com). The 8% figure for individuals with ASD involved mass killings is a conservative estimate. In addition to the six cases which provide the 8% figure, there were 16 other cases with some indication of ASD. Crucially, ASD may influence, but does not cause, an individual to commit extreme violent acts such as a mass shooting episode.
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3. Besag F, Aldenkamp A, Caplan R, Dunn DW, Gobbi G, Sillanpaa M. {{Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Epilepsy and autism}}. {Epileptic Disord};2016 (May 16)
A high proportion of children with epilepsy have autism spectrum disorder. Although estimates vary, depending both on the population studied and the definitions used, a figure of around 20% has typically been reported. Autism can have a major impact on the life of the child and family. Despite the importance of this comorbidity and although many studies have been performed, a full understanding of the possible links between epilepsy and autism remains elusive. In a minority of cases, for example in the Landau-Kleffner syndrome, the autistic features can be the result of the epilepsy itself. However, there has been a failure to demonstrate that the epilepsy itself plays a major role in most cases. The current evidence seems to point to a common underlying predisposing factor. The discovery of a growing number of genetic defects leading to both conditions would support this explanation of the link.
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4. Billeci L, Narzisi A, Campatelli G, Crifaci G, Calderoni S, Gagliano A, Calzone C, Colombi C, Pioggia G, Muratori F. {{Disentangling the initiation from the response in joint attention: an eye-tracking study in toddlers with autism spectrum disorders}}. {Transl Psychiatry};2016;6:e808.
Joint attention (JA), whose deficit is an early risk marker for autism spectrum disorder (ASD), has two dimensions: (1) responding to JA and (2) initiating JA. Eye-tracking technology has largely been used to investigate responding JA, but rarely to study initiating JA especially in young children with ASD. The aim of this study was to describe the differences in the visual patterns of toddlers with ASD and those with typical development (TD) during both responding JA and initiating JA tasks. Eye-tracking technology was used to monitor the gaze of 17 children with ASD and 15 age-matched children with TD during the presentation of short video sequences involving one responding JA and two initiating JA tasks (initiating JA-1 and initiating JA-2). Gaze accuracy, transitions and fixations were analyzed. No differences were found in the responding JA task between children with ASD and those with TD, whereas, in the initiating JA tasks, different patterns of fixation and transitions were shown between the groups. These results suggest that children with ASD and those with TD show different visual patterns when they are expected to initiate joint attention but not when they respond to joint attention. We hypothesized that differences in transitions and fixations are linked to ASD impairments in visual disengagement from face, in global scanning of the scene and in the ability to anticipate object’s action.
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5. Breuillard D, Leunen D, Chemaly N, Auclair L, Pinard JM, Kaminska A, Desguerre I, Ouss L, Nabbout R. {{Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations}}. {Epilepsy Behav};2016 (May 12);60:75-80.
INTRODUCTION: Autism features and various degrees of cognitive deficit are reported in patients with PCDH-19 mutations and epilepsy. Autism spectrum disorder (ASD) and, often, cognitive profile are usually assessed clinically. We studied autism phenotype and cognitive outcome in a series of patients using standardized tools for development and ASD. We aimed to describe the phenotype of ASD in this series and to understand whether ASD is strictly linked to intellectual disability (ID) or is present as a comorbidity. METHODS: Eight females aged 5 to 17years old with PCDH-19 mutations and epilepsy were recruited. For ASD diagnosis, the Autism Diagnostic Interview – Revised (ADI-R) and the Autism Diagnosis Observation Schedule (ADOS) were administered. Patients underwent a neuropsychological examination with tests measuring global intellectual efficiency (WPPSI-III and WISC-IV), language, and executive and social cognition abilities. Parental adaptive behavioral questionnaires were also obtained (VABS, CBCL, and BRIEF). RESULTS: Six out of eight patients presented with ASD and ID. Two patients had neither ASD nor ID, and both had the latest age of onset for their epilepsy. All cognitive functions were deficient, but theory-of-mind abilities compared to other cognitive features were even impaired. Features of ASD lacked major repetitive and stereotyped behaviors and show some differences with the classical ASD features related to ID. CONCLUSION: Our results show a large spectrum of ID and a very high rate of ASD in patients with epilepsy and PCDH-19 mutations. Autism spectrum disorder seems to be a genuine comorbidity, more than a consequence of ID. It highlights the importance of standardized psychiatric and cognitive evaluation in order to establish a tailored rehabilitation program.
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6. Copping NA, Berg EL, Foley GM, Schaffler MD, Onaga BL, Buscher N, Silverman JL, Yang M. {{Touchscreen Learning Deficits and Normal Social Approach Behavior in the Shank3B Model of Phelan-McDermid Syndrome and Autism}}. {Neuroscience};2016 (May 14)
SHANK3 is a synaptic scaffolding protein localized in the postsynaptic density and has a crucial role in synaptogenesis and neural physiology. Deletions and point mutations in SHANK3 cause Phelan-McDermid Syndrome (PMS), and have also been implicated in autism spectrum disorder (ASD) and intellectual disabilities, leading to the hypothesis that reduced SHANK3 expression impairs basic brain functions that are important for social communication and cognition. Several mouse models of Shank3 deletions have been generated, varying in the specific domain deleted. Here we report impairments in cognitive function in mice heterozygous for exon 13-16 (coding for the PDZ domain) deletion. The touchscreen pairwise discrimination task was chosen by virtue of its: (a) conceptual and technical similarities to the Cambridge Neuropsychological Test Automated Battery (CANTAB) and NIH Toolbox Cognition Battery used for testing cognitive functions in humans, (b) minimal demand on motor abilities, and (c) capability to measure many aspects of learning and memory and complex cognitive functions, including cognitive flexibility. The similarity between our mouse tasks and human cognitive assays means a high translational validity in future intervention studies using preclinical models. Our study revealed that Shank3B heterozygous mice (+/-) were slower to reach criterion in the pairwise visual discrimination task, and exhibited trends toward making more errors (first trial errors) and more correction errors than wildtype mice (+/+). Open field activity was normal in +/-, ruling out hypo- or hyper-activity as potential confounds in the touchscreen test. Sociability in the three chamber test was also normal in both +/+ and +/-. These results indicate a deficit in discrimination learning in the Shank3B model of PMS and ASD, suggesting that this mouse model is a useful preclinical tool for studying neurobiological mechanisms behind cognitive impairments in PMS and ASD. The current findings are the starting point for our future research in which we will investigate multiple domains of cognition and explore pharmacological interventions.
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7. Di Rezze B, Rosenbaum P, Zwaigenbaum L, Hidecker MJ, Stratford P, Cousins M, Camden C, Law M. {{Developing a classification system of social communication functioning of preschool children with autism spectrum disorder}}. {Dev Med Child Neurol};2016 (May 17)
AIM: Impairments in social communication are the hallmark of autism spectrum disorder (ASD). Operationalizing ‘severity’ in ASD has been challenging; thus, stratifying by functioning has not been possible. The purpose of this study is to describe the development of the Autism Classification System of Functioning: Social Communication (ACSF:SC) and to evaluate its consistency within and between parent and professional ratings. METHOD: (1) ACSF:SC development based on focus groups and surveys involving parents, educators, and clinicians familiar with preschoolers with ASD; and (2) evaluation of the intra- and interrater agreement of the ACSF:SC using weighted kappa (small ka, Cyrillicw ). RESULTS: Seventy-six participants were involved in the development process. Core characteristics of social communication were ascertained: communicative intent; communicative skills and reciprocity; and impact of environment. Five ACSF:SC levels were created and content-validated across participants. Best capacity and typical performance agreement ratings varied as follows: intrarater agreement on 41 children was small ka, Cyrillicw =0.61 to 0.69 for parents, and small ka, Cyrillicw =0.71 to 0.95 for professionals; interrater agreement between professionals was small ka, Cyrillicw =0.47 to 0.61, and between parents and professionals was small ka, Cyrillicw =0.33 to 0.53. INTERPRETATION: Perspectives from parents and professionals informed ACSF:SC development, providing common descriptions of the levels of everyday communicative abilities of children with ASD to complement the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. Rater agreement demonstrates that the ACSF:SC can be used with acceptable consistency compared with other functional classification systems.
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8. Ferguson BJ, Marler S, Altstein LL, Lee EB, Mazurek MO, McLaughlin A, Macklin EA, McDonnell E, Davis DJ, Belenchia AM, Gillespie CH, Peterson CA, Bauman ML, Margolis KG, Veenstra-VanderWeele J, Beversdorf DQ. {{Associations between cytokines, endocrine stress response, and gastrointestinal symptoms in autism spectrum disorder}}. {Brain Behav Immun};2016 (May 12)
Many children and adolescents with autism spectrum disorder (ASD) have significant gastrointestinal (GI) symptoms, but the etiology is currently unknown. Some individuals with ASD show altered reactivity to stress and altered immune markers relative to typically-developing individuals, particularly stress-responsive cytokines including tumor necrosis factor alpha (TNF-alpha) and interleukin 6 (IL-6). The present study examined whether GI symptoms in ASD were associated with increases in cortisol, a stress-associated endocrine marker, and TNF-alpha and IL-6 in response to stress. As hypothesized, a greater amount of lower GI tract symptoms were significantly associated with post-stress cortisol concentration. The relationship between cortisol response to stress and GI functioning was greater for children who had a history of regressive autism. Exploratory analyses revealed significant correlations between cortisol response, intelligence, and inappropriate speech. In contrast, symptoms of the lower GI tract were not associated with levels of TNF-alpha or IL-6. Significant correlations were found, however, between TNF-alpha and IL-6 and irritability, socialization, and intelligence. These findings suggest that individuals with ASD and symptoms of the lower GI tract may have an increased response to stress, but this effect is not associated with concomitant changes in TNF-alpha and IL-6. The relationship between cortisol stress response and lower GI tract symptoms in children with regressive autism, as well as the relationships between cortisol, IL-6, and intelligence in ASD, warrant further investigation.
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9. Frye RE, Slattery J. {{The potential role of nitrous oxide in the etiology of autism spectrum disorder}}. {Transl Psychiatry};2016;6:e812.
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10. Hoglund Carlsson L, Saltvedt S, Anderlid BM, Westerlund J, Gillberg C, Westgren M, Fernell E. {{Ultrasound in the first and second trimester and autism; a prospective randomized study}}. {Ultrasound Obstet Gynecol};2016 (May 17)
OBJECTIVES: To analyze whether the frequency of Autism Spectrum Disorder (ASD) differs in Swedish cohorts of children exposed to ultrasound either in the 12th or 18th week of gestation. METHODS: The study cohort consisted of approximately 30 000 children with birth-years 1999-2003, born to mothers, who, within the framework of a study of nuchal translucency (NT) screening, had been randomized to prenatal ultrasound in either gestational week 12 or 18. The outcome measure in the present study was the rate of ASD diagnoses in the children. Information on ASD diagnoses was based on data from the Swedish Social Insurance Agency concerning granted childcare allowance because of ASD. RESULTS: No difference in ASD frequency between the early and later subgroup could be detected. A total of 14 726 children were born after early and 14 596 children after later ultrasound in 1999-2003 and of these, 181 (1.2%) and 176 (1.2%) children, respectively, had been diagnosed with ASD. CONCLUSIONS: Women, subjected to at least one prenatal ultrasound in either gestational week 12 or 18, had children with similar rates of ASD. However, the result reflects the routine used 10 to 15 years ago in Sweden. Today, many and early, higher intensity ultrasound scans are performed during pregnancy and also for non-medical purposes, implying longer exposure time for the fetus. This changing use of ultrasound necessitates further follow-up studies of the possible effects on the developing brain of high exposure to ultrasound during the gestational period.
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11. Kubota T, Mochizuki K. {{Epigenetic Effect of Environmental Factors on Autism Spectrum Disorders}}. {Int J Environ Res Public Health};2016;13(5)
Both environmental factors and genetic factors are involved in the pathogenesis of autism spectrum disorders (ASDs). Epigenetics, an essential mechanism for gene regulation based on chemical modifications of DNA and histone proteins, is also involved in congenital ASDs. It was recently demonstrated that environmental factors, such as endocrine disrupting chemicals and mental stress in early life, can change epigenetic status and gene expression, and can cause ASDs. Moreover, environmentally induced epigenetic changes are not erased during gametogenesis and are transmitted to subsequent generations, leading to changes in behavior phenotypes. However, epigenetics has a reversible nature since it is based on the addition or removal of chemical residues, and thus the original epigenetic status may be restored. Indeed, several antidepressants and anticonvulsants used for mental disorders including ASDs restore the epigenetic state and gene expression. Therefore, further epigenetic understanding of ASDs is important for the development of new drugs that take advantages of epigenetic reversibility.
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12. Laghi F, Federico F, Lonigro A, Levanto S, Ferraro M, Baumgartner E, Baiocco R. {{Peer and Teacher-Selected Peer Buddies for Adolescents With Autism Spectrum Disorders: The Role of Social, Emotional, and Mentalizing Abilities}}. {J Psychol};2016 (May 18);150(4):469-484.
This study examined mentalizing abilities, social behavior, and social impact of adolescents who expressed the willingness to become peer buddies for adolescents with Autism Spectrum Disorders, and adolescents selected by their teachers and peers. Twenty-seven teachers and 395 adolescents from public high schools completed mentalizing abilities, social status, behavioral, and peer buddy nomination measures. Findings suggest that social status and preference play a significant role in the selection of peer buddies by both teachers and classmates. Furthermore, more advanced Theory of Mind (ToM) abilities and the engagement in prosocial behaviors differentiated peers selected as buddies from other classmates. When compared with nonparticipating students, adolescents who expressed willingness to participate were more often girls, and were more prosocial. Agreement between teacher and peer nominations of best peer was moderate.
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13. Lee JH, Espinera AR, Chen D, Choi KE, Caslin AY, Won S, Pecoraro V, Xu GY, Wei L, Yu SP. {{Neonatal inflammatory pain and systemic inflammatory responses as possible environmental factors in the development of autism spectrum disorder of juvenile rats}}. {J Neuroinflammation};2016;13(1):109.
BACKGROUND: Autism spectrum disorder (ASD) affects many children and juveniles. The pathogenesis of ASD is not well understood. Environmental factors may play important roles in the development of ASD. We examined a possible relationship of inflammatory pain in neonates and the development of ASD in juveniles. METHODS: Acute inflammation pain was induced by 5 % formalin (5 mul/day) subcutaneous injection into two hindpaws of postnatal day 3 to 5 (P3-P5) rat pups. Western blot, immunohistochemical, and behavioral examinations were performed at different time points after the insult. RESULTS: Formalin injection caused acute and chronic inflammatory responses including transient local edema, increased levels of inflammatory cytokines, TNF-alpha, and IL-1beta in the blood as well as in the brain, and increased microglia in the brain. One day after the pain insult, there was significant cell death in the cortex and hippocampus. Two weeks later, although the hindpaw local reaction subsided, impaired axonal growth and demyelization were seen in the brain of P21 juvenile rats. The number of bromodeoxyuridine (BrdU) and doublecortin (DCX) double-positive cells in the hippocampal dentate gyrus of P21 rats was significantly lower than that in controls, indicating reduced neurogenesis. In the P21 rat’s brain of the formalin group, the expression of autism-related gene neurexin 1 (NRXN1), fragile X mental retardation 1 (FMR1), and oxytocin was significantly downregulated, consistent with the gene alteration in ASD. Juvenile rats in the formalin group showed hyperalgesia, repetitive behaviors, abnormal locomotion, sleep disorder, and distinct deficits in social memory and social activities. These alterations in neuroinflammatory reactions, gene expression, and behaviors were more evident in male than in female rats. Importantly, an anti-inflammation treatment using indomethacin (10 mg/kg, i.p.) at the time of formalin injections suppressed inflammatory responses and neuronal cell death and prevented alterations in ASD-related genes and the development of abnormal behaviors. CONCLUSIONS: These novel observations indicate that severe inflammatory pain in neonates and persistent inflammatory reactions may predispose premature infants to development delays and psychiatric disorders including ASD. The prevention of pain stimuli and prompt treatments of inflammation during development appear vitally important in disrupting possible evolution of ASD syndromes.
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14. Liu X, Liu J, Xiong X, Yang T, Hou N, Liang X, Chen J, Cheng Q, Li T. {{Correlation between Nutrition and Symptoms: Nutritional Survey of Children with Autism Spectrum Disorder in Chongqing, China}}. {Nutrients};2016;8(5)
Restricted diets and inadequate nutrient intake of children with autism spectrum disorder (ASD) have been reported. This study examined the nutritional statuses of children with ASD and the relationships between their behaviors and nutritional intake. A total of 154 children with ASD (age = 5.21 +/- 1.83 years) and 73 typically-developing (TD) children (age = 4.83 +/- 0.84 years) from Chongqing, China, were enrolled. The severity of ASD was evaluated using the Childhood Autism Rating Scale (CARS). The serum ferritin, folate, vitamin B12, 25(OH) vitamin D, and vitamin A concentrations in the children with ASD were determined. All participants underwent anthropometric examinations, dietary assessments, and questionnaire assessments about their feeding behaviors, and gastrointestinal symptoms. The ZHA, ZWA, and ZBMIA were found to be significantly lower in the children with ASD compared with those without ASD. In addition, the percentages of children exhibiting severe picky eating and severe resistance to new foods, as well as those with a reported general impression of severe eating problems and constipation, were higher among the children with ASD. These children consumed significantly fewer macronutrients compared with the children without ASD. In addition, the children with ASD had the highest rate of vitamin A deficiency, followed by iron deficiency. After adjusting for sex, the vitamin A concentration was found to be negatively correlated with the CARS score (rs = -0.222, p = 0.021). No correlation between the ferritin, folate, vitamin D, or vitamin B12 concentration and the CARS score was found. These results suggest that reduced macronutrient intakes, severe feeding behavior issues, constipation, and vitamin A deficiency are quite common among children with ASD. Further, a low serum vitamin A level may be a risk factor for symptoms of ASD. However, the underlying mechanism should be further studied.
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15. Roane HS, Fisher WW, Carr JE. {{Applied Behavior Analysis as Treatment for Autism Spectrum Disorder}}. {J Pediatr};2016 (May 11)
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16. Russet F, Pernon E, Fiard D, Baghdadli A. {{[The French speaking teams must be provided with instruments to help in the diagnosis of autism spectrum disorders in adults with no intellectual disability]}}. {Encephale};2016 (May 13)
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17. Solomon M, McCauley JB, Iosif AM, Carter CS, Ragland JD. {{Cognitive control and episodic memory in adolescents with autism spectrum disorders}}. {Neuropsychologia};2016 (May 13)
INTRODUCTION: To further investigate manifestations of episodic memory impairments in adolescents, we examined the role of encoding on recognition of stimuli in conditions designed to emphasize their item-specific versus relational characteristics in a group of 12-18 year olds with autism spectrum disorders (ASD). We also examined how strategic learning and memory processes, verbal abilities, attention, and age were associated with recognition in this group. MATERIALS AND METHOD: Twenty two high functioning adolescents with ASD (mean age = 15 years; SD = 1.8; range = 12.2-17.9), and 26 age, gender, and IQ-matched adolescents with typical development (TYP) (mean age = 14.7 years; SD = 1.9; range = 12.3-17.8) completed the Relational and Item-Specific Encoding task (RiSE), the California Verbal Learning Test-Children’s Version (CVLT-C), the Wechsler Abbreviated Scales of Intelligence, and the Connors’ Parent Rating Scale-Revised. Univariate statistical analyses were performed. RESULTS: The ASD group showed poorer performance on strategic memory assessed by the CVLT-C. Surprisingly, on the RiSE, ASD showed poorer discriminability for objects encoded in item-specific versus relational encoding conditions and were more impaired in familiarity (after relational encoding) than in recollection. ASD also did not show the hypothesized association between item and associative recognition and CVLT-C performance found in TYP. Instead, in the ASD group recognition was associated with increased age. CONCLUSIONS: Findings from the RiSE task demonstrated that adolescents with ASD do not always exhibit impaired memory for relational information as commonly believed. Instead memory was worse when cognitive control demands were high, when encoding focused on specific item features, and when familiarity was used to retrieve relational information. Recognition also was better in older participants. This suggests that learning and memory deficits in adolescents with ASD, may not be due primarily to failed relational binding processes in the hippocampus but, rather to disrupted strategic memory and familiarity processes associated with the prefrontal and perirhinal cortices. These findings demonstrate the importance and utility of using well-validated cognitive neuroscience tasks and of considering the ages of participants when comparing the neural underpinnings of different memory processes in both typical and atypical populations.
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18. Som A, Baidya DK, Arora MK, Maitra S, Gupta S. {{Rett syndrome: a concern for the anesthesiologists}}. {J Clin Anesth};2016 (Jun);31:247-248.
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19. Tsai PT. {{Autism and cerebellar dysfunction: Evidence from animal models}}. {Semin Fetal Neonatal Med};2016 (May 11)
Autism is a prevalent neurodevelopmental disorder whose origins are not well understood. Cerebellar involvement has been implicated in the pathogenesis of autism spectrum disorders with increasing evidence from both clinical studies and animal models supporting an important role for cerebellar dysfunction in autism spectrum disorders. This article discusses the various cerebellar contributions to autism spectrum disorders. Both clinical and preclinical studies are discussed and future research directions highlighted.
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20. Zahorakova D, Langova M, Brozova K, Lastuvkova J, Kalina Z, Rennerova L, Martasek P. {{Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy}}. {Folia Biol (Praha)};2016;62(2):67-74.
The X-linked CDKL5 gene, which encodes cyclin-dependent kinase-like 5 protein, has been implicated in early-onset encephalopathy and atypical Rett syndrome with early-onset seizures. The CDKL5 protein is a kinase required for neuronal development and morphogenesis, but its precise functions are still largely unexplored. Individuals with CDKL5 mutations present with severe global developmental delay, intractable epilepsy, and Rett-like features. A clear genotype-phenotype correlation has not been established due to an insufficient number of reported cases. The aim of this study was to analyse the CDKL5 gene in Czech patients with early-onset seizures and Rett-like features. We performed mutation screening in a cohort of 83 individuals using high-resolution melting analysis, DNA sequencing and multiplex ligation- dependent probe amplification. Molecular analyses revealed heterozygous pathogenic mutations in three girls with severe intellectual disability and intractable epilepsy starting at the age of two months. All three identified mutations, c.637G>A, c.902_977+29del105, and c.1757_1758delCT, are novel, thus significantly extending the growing spectrum of known pathogenic CDKL5 sequence variants. Our results support the importance of genetic testing of the CDKL5 gene in patients with early-onset epileptic encephalopathy and Rett-like features with early-onset seizures. This is the first study referring to molecular defects of CDKL5 in Czech cases.
21. Zaidman-Zait A, Curle D. {{Complexity: An interpretative phenomenological analysis of the experiences of mothers of deaf children with cochlear implants and autism}}. {J Health Psychol};2016 (May 16)
The purpose of this study was to explore the experiences of parenting a child with a dual diagnosis of childhood deafness and autism spectrum disorder who underwent cochlear implantation. Experiences of these parents are rarely discussed within the literature. Interpretive Phenomenological Analysis was used to examine nine mothers of boys (4-9 years old) for understanding their parenting experiences. Three superordinate themes were identified: complexity, personal and family sacrifices and parent-professional partnerships. These themes provide a rich account of mothers’ interpretations of their experiences, and reflect the numerous challenges they face. This study helps expand the literature on cochlear implantation for children with autism spectrum disorder, and discusses implications for clinical and educational practice.
