1. Bello-Mojeed M, Ani C, Lagunju I, Omigbodun O. {{Feasibility of parent-mediated behavioural intervention for behavioural problems in children with Autism Spectrum Disorder in Nigeria: a pilot study}}. {Child Adolesc Psychiatry Ment Health};2016;10(1):28.
BACKGROUND: Autism Spectrum Disorders (ASD) is a disabling and lifelong neuro-developmental disorder. Challenging behaviours such as aggression and self injury are common maladaptive behaviours in ASD which adversely affect the mental health of both the affected children and their caregivers. Although there is evidence-base for parent-delivered behavioural intervention for children with ASD and challenging behaviours, there is no published research on the feasibility of such an intervention in sub-Saharan Africa. This study assessed the feasibility of parent-mediated behavioural intervention for challenging behaviour in children with ASD in Nigeria. METHODS: This was a pre-post intervention pilot study involving 20 mothers of children with DSM-5 diagnosis of ASD recruited from a Child and Adolescent Mental Health Service out-patient Unit. All the mothers completed five sessions of weekly manualised group-based intervention from March to April, 2015. The intervention included Functional Behavioural Analysis for each child followed by an individualised behaviour management plan. The primary outcome measure was the Aggression and Self Injury Questionnaire, which assessed both Aggression towards a Person and Property (APP) and Self Injurious Behaviour (SIB). The mothers’ knowledge of the intervention content was the secondary outcome. All outcome measures were completed at baseline and after the intervention. The mothers’ level of satisfaction with the programme was also assessed. Treatment effect was evaluated with Wilcoxon Signed Rank Tests of baseline and post-intervention scores on outcome measures. RESULTS: The children were aged 3-17 years (mean = 10.7 years, SD 4.6 years), while their mothers’ ages ranged from 32 to 52 years (mean 42.8 years, SD 6.4 years). The post intervention scores in all four domains of the APP and SIB were significantly reduced compared with pre-intervention scores. The mothers’ knowledge of the intervention content significantly increased post-intervention. The intervention was well received with the vast majority (75 %) of participants being very satisfied and all (100 %) were willing to recommend the programme to a friend whose child has similar difficulties. CONCLUSIONS: Parent-mediated behavioural intervention is a feasible and promising treatment for challenging behaviour in children with ASD in Nigeria. Behavioural intervention should be an integral component in scaling up services for children with ASD in Nigeria.
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2. Brennan JR, Wagley N, Kovelman I, Bowyer SM, Richard AE, Lajiness-O’Neill R. {{Magnetoencephalography shows atypical sensitivity to linguistic sound sequences in autism spectrum disorder}}. {Neuroreport};2016 (Sep 7);27(13):982-986.
Neuroscientific evidence points toward atypical auditory processing in individuals with autism spectrum disorders (ASD), and yet, the consequences of this for receptive language remain unclear. Using magnetoencephalography and a passive listening task, we test for cascading effects on speech sound processing. Children with ASD and age-matched control participants (8-12 years old) listened to nonce linguistic stimuli that either did or did not conform to the phonological rules that govern consonant sequences in English (e.g. legal ‘vimp’ vs. illegal ‘vimk’). Beamformer source analysis was used to isolate evoked responses (0.1-30 Hz) to these stimuli in the left and the right auditory cortex. Right auditory responses from participants with ASD, but not control participants, showed an attenuated response to illegal sequences relative to legal sequences that emerged around 330 ms after the onset of the critical phoneme. These results suggest that phonological processing is impacted in ASD, perhaps because of cascading effects from disrupted initial acoustic processing.
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3. Chinello A, Di Gangi V, Valenza E. {{Persistent primary reflexes affect motor acts: Potential implications for autism spectrum disorder}}. {Res Dev Disabil};2016 (Aug 29)
In typical motor development progress in use of goal-directed actions and communicative gestures depends on the inhibition of several primitive reflexes, especially those that involve the hand or mouth. This study explored the relationship between the persistence of primitive reflexes that involve the hand or mouth and the motor repertoire in a sample of 12- to 17-month-old infants. Moreover, since children with Autism Spectrum Disorders (ASD) often have difficulty in performing skilled movements and show poor gesture repertoire, and since ASD represents the upper extreme of a constellation of traits that may be continuously distributed in the general population, we investigated the relationship between the persistence of primitive reflexes in the same sample of infants and the subclinical autistic traits measured in their parents. Results revealed that the persistence of the primitive reflexes correlated with motor repertoire irrespective of infant’s age, and it was greater among infants whose parents had more subclinical autistic traits. Our findings suggest that the persistence of primitive reflexes might alter the developmental trajectory of future motor ability and therefore their evaluation might be an early indicator of atypical development.
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4. Connor SA, Ammendrup-Johnsen I, Chan AW, Kishimoto Y, Murayama C, Kurihara N, Tada A, Ge Y, Lu H, Yan R, LeDue JM, Matsumoto H, Kiyonari H, Kirino Y, Matsuzaki F, Suzuki T, Murphy TH, Wang YT, Yamamoto T, Craig AM. {{Altered Cortical Dynamics and Cognitive Function upon Haploinsufficiency of the Autism-Linked Excitatory Synaptic Suppressor MDGA2}}. {Neuron};2016 (Sep 7);91(5):1052-1068.
Mutations in a synaptic organizing pathway contribute to autism. Autism-associated mutations in MDGA2 (MAM domain containing glycosylphosphatidylinositol anchor 2) are thought to reduce excitatory/inhibitory transmission. However, we show that mutation of Mdga2 elevates excitatory transmission, and that MDGA2 blocks neuroligin-1 interaction with neurexins and suppresses excitatory synapse development. Mdga2(+/-) mice, modeling autism mutations, demonstrated increased asymmetric synapse density, mEPSC frequency and amplitude, and altered LTP, with no change in measures of inhibitory synapses. Behavioral assays revealed an autism-like phenotype including stereotypy, aberrant social interactions, and impaired memory. In vivo voltage-sensitive dye imaging, facilitating comparison with fMRI studies in autism, revealed widespread increases in cortical spontaneous activity and intracortical functional connectivity. These results suggest that mutations in MDGA2 contribute to altered cortical processing through the dual disadvantages of elevated excitation and hyperconnectivity, and indicate that perturbations of the NRXN-NLGN pathway in either direction from the norm increase risk for autism.
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5. Foxe JJ, Burke KM, Andrade GN, Djukic A, Frey HP, Molholm S. {{Automatic cortical representation of auditory pitch changes in Rett syndrome}}. {J Neurodev Disord};2016;8(1):34.
BACKGROUND: Over the typical course of Rett syndrome, initial language and communication abilities deteriorate dramatically between the ages of 1 and 4 years, and a majority of these children go on to lose all oral communication abilities. It becomes extremely difficult for clinicians and caretakers to accurately assess the level of preserved auditory functioning in these children, an issue of obvious clinical import. Non-invasive electrophysiological techniques allow for the interrogation of auditory cortical processing without the need for overt behavioral responses. In particular, the mismatch negativity (MMN) component of the auditory evoked potential (AEP) provides an excellent and robust dependent measure of change detection and auditory sensory memory. Here, we asked whether females with Rett syndrome would produce the MMN to occasional changes in pitch in a regularly occurring stream of auditory tones. METHODS: Fourteen girls with genetically confirmed Rett syndrome and 22 age-matched neurotypical controls participated (ages 3.9-21.1 years). High-density electrophysiological recordings from 64 scalp electrodes were made while participants passively listened to a regularly occurring stream of 503-Hz auditory tone pips that was occasionally (15 % of presentations) interrupted by a higher-pitched deviant tone of 996 Hz. The MMN was derived by subtracting the AEP to these deviants from the AEP produced to the standard. RESULTS: Despite clearly anomalous morphology and latency of the AEP to simple pure-tone inputs in Rett syndrome, the MMN response was evident in both neurotypicals and Rett patients. However, we found that the pitch-evoked MMN was both delayed and protracted in duration in Rett, pointing to slowing of auditory responsiveness. CONCLUSIONS: The presence of the MMN in Rett patients suggests preserved abilities to process pitch changes in auditory sensory memory. This work represents a beginning step in an effort to comprehensively map the extent of auditory cortical functioning in Rett syndrome. These easily obtained objective brain measures of auditory processing have promise as biomarkers against which future therapeutic efforts can be assayed.
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6. Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Caglayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R. {{Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features}}. {Am J Hum Genet};2016 (Sep 7)
The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times that of the general population. From a cohort of >5,000 families affected by neurodevelopmental disorders, we identified six consanguineous families harboring homozygous inactivating variants in MBOAT7, encoding lysophosphatidylinositol acyltransferase (LPIAT1). Subjects presented with ID frequently accompanied by epilepsy and autistic features. LPIAT1 is a membrane-bound phospholipid-remodeling enzyme that transfers arachidonic acid (AA) to lysophosphatidylinositol to produce AA-containing phosphatidylinositol. This study suggests a role for AA-containing phosphatidylinositols in the development of ID accompanied by epilepsy and autistic features.
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7. Katayama Y, Nishiyama M, Shoji H, Ohkawa Y, Kawamura A, Sato T, Suyama M, Takumi T, Miyakawa T, Nakayama KI. {{CHD8 haploinsufficiency results in autistic-like phenotypes in mice}}. {Nature};2016 (Sep 7)
Autism spectrum disorder (ASD) comprises a range of neurodevelopmental disorders characterized by deficits in social interaction and communication as well as by restricted and repetitive behaviours. ASD has a strong genetic component with high heritability. Exome sequencing analysis has recently identified many de novo mutations in a variety of genes in individuals with ASD, with CHD8, a gene encoding a chromatin remodeller, being most frequently affected. Whether CHD8 mutations are causative for ASD and how they might establish ASD traits have remained unknown. Here we show that mice heterozygous for Chd8 mutations manifest ASD-like behavioural characteristics including increased anxiety, repetitive behaviour, and altered social behaviour. CHD8 haploinsufficiency did not result in prominent changes in the expression of a few specific genes but instead gave rise to small but global changes in gene expression in the mouse brain, reminiscent of those in the brains of patients with ASD. Gene set enrichment analysis revealed that neurodevelopment was delayed in the mutant mouse embryos. Furthermore, reduced expression of CHD8 was associated with abnormal activation of RE-1 silencing transcription factor (REST), which suppresses the transcription of many neuronal genes. REST activation was also observed in the brains of humans with ASD, and CHD8 was found to interact physically with REST in the mouse brain. Our results are thus consistent with the notion that CHD8 haploinsufficiency is a highly penetrant risk factor for ASD, with disease pathogenesis probably resulting from a delay in neurodevelopment.
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8. Kim SH, Joseph RM, Frazier JA, O’Shea TM, Chawarska K, Allred EN, Leviton A, Kuban KK. {{Predictive Validity of the Modified Checklist for Autism in Toddlers (M-CHAT) Born Very Preterm}}. {J Pediatr};2016 (Aug 31)
OBJECTIVE: To examine the predictive validity of the Modified Checklist for Autism in Toddlers (M-CHAT) administered at age 24 months for autism spectrum disorder (ASD) diagnosed at 10 years of age in a US cohort of 827 extremely low gestational age newborns (ELGANs) followed from birth. STUDY DESIGN: We examined the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of the M-CHAT in predicting an ASD diagnosis at age 10 years based on gold standard diagnostic instruments. We then assessed how these predictive parameters were affected by sensorimotor and cognitive impairments, socioeconomic status (SES), and emotional/behavioral dysregulation at age 2 years. RESULTS: Using standard criteria, the M-CHAT had a sensitivity of 52%, a specificity of 84%, a PPV of 20%, and an NPV of 96%. False-positive and false-negative rates were high among children with hearing and vision impairments. High false-positive rates also were associated with lower SES, motor and cognitive impairments, and emotional/behavioral dysregulation at age 2 years. CONCLUSIONS: Among extremely preterm children with ASD, almost one-half were not correctly screened by the M-CHAT at age 2 years. Sensorimotor and cognitive impairments, SES, and emotional/behavioral dysregulation contributed significantly to M-CHAT misclassifications. Clinicians are advised to consider these factors when screening very preterm toddlers for ASD.
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9. Kimura H, Wang C, Ishizuka K, Xing J, Takasaki Y, Kushima I, Aleksic B, Uno Y, Okada T, Ikeda M, Mori D, Inada T, Iwata N, Ozaki N. {{Identification of a rare variant in CHD8 that contributes to schizophrenia and autism spectrum disorder susceptibility}}. {Schizophr Res};2016 (Aug 29)
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10. Newell C, Bomhof MR, Reimer RA, Hittel DS, Rho JM, Shearer J. {{Ketogenic diet modifies the gut microbiota in a murine model of autism spectrum disorder}}. {Mol Autism};2016;7(1):37.
BACKGROUND: Gastrointestinal dysfunction and gut microbial composition disturbances have been widely reported in autism spectrum disorder (ASD). This study examines whether gut microbiome disturbances are present in the BTBR(T + tf/j) (BTBR) mouse model of ASD and if the ketogenic diet, a diet previously shown to elicit therapeutic benefit in this mouse model, is capable of altering the profile. FINDINGS: Juvenile male C57BL/6 (B6) and BTBR mice were fed a standard chow (CH, 13 % kcal fat) or ketogenic diet (KD, 75 % kcal fat) for 10-14 days. Following diets, fecal and cecal samples were collected for analysis. Main findings are as follows: (1) gut microbiota compositions of cecal and fecal samples were altered in BTBR compared to control mice, indicating that this model may be of utility in understanding gut-brain interactions in ASD; (2) KD consumption caused an anti-microbial-like effect by significantly decreasing total host bacterial abundance in cecal and fecal matter; (3) specific to BTBR animals, the KD counteracted the common ASD phenotype of a low Firmicutes to Bacteroidetes ratio in both sample types; and (4) the KD reversed elevated Akkermansia muciniphila content in the cecal and fecal matter of BTBR animals. CONCLUSIONS: Results indicate that consumption of a KD likely triggers reductions in total gut microbial counts and compositional remodeling in the BTBR mouse. These findings may explain, in part, the ability of a KD to mitigate some of the neurological symptoms associated with ASD in an animal model.
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11. Penagarikano O. {{Oxytocin in Animal Models of Autism Spectrum Disorder}}. {Dev Neurobiol};2016 (Sep 7)
Autism spectrum disorder is a behavioral disorder characterized by impairments in social interaction and communication together with the presence of stereotyped behaviors and restricted interests. Although highly genetic, its etiology is complex which correlates with the extensive heterogeneity found in its clinical manifestation, adding to the challenge of understanding its pathophysiology and develop targeted pharmacotherapies. The neuropeptide oxytocin is part of a highly conserved system involved in the regulation of social behavior, and both animal and human research have shown that variation in the oxytocin system accounts for interindividual differences in the expression of social behaviors in mammals. In autism, recent studies in human patients and animal models are starting to reveal that alterations in the oxytocin system are more common than previously anticipated. Genetic variation in the key players involved in the system (i.e. oxytocin receptor, oxytocin and CD38) have been found associated with autism in humans, and animal models of the disorder converge in an altered oxytocin system and/or dysfunction in oxytocin related biological processes. Further, oxytocin administration exerts a behavioral and neurobiological response and thus, the oxytocin system has become a promising potential therapeutical target for autism. Animal models represent a valuable tool to aid in the research into the potential therapeutic use of oxytocin. In this review, I aim to discuss the main findings related to oxytocin research in autism with a focus on findings in animal models. This article is protected by copyright. All rights reserved.
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12. Ranasinghe T, Jeyaseelan D, White D, Russo R. {{Parents’ experiences in registering with and accessing funding under the National Disability Insurance Scheme for early intervention services for children with developmental disabilities}}. {J Paediatr Child Health};2016 (Sep 4)
AIM: To evaluate parents’ feedback regarding their experience in registering and accessing funding with the National Disability Insurance Scheme (NDIS) and communicating with the National Disability Insurance Agency (NDIA). METHODS: Parents of children less than 7 years of age, who were assessed through the Child Development Unit (CDU) at the Women’s and Children’s Health Network from July 2013 to June 2014 and referred to the NDIS, were invited to complete a study questionnaire regarding their experience with the NDIS. The questionnaire was initially mailed to the parents. If no response was returned, families were telephoned to complete the questionnaire by phone or to be sent another copy of the questionnaire to complete. RESULTS: Of 121 children eligible for the study, 42 (34.7%) parents completed the questionnaire. Thirty-six (85.7%) parents reported having no difficulty with the NDIS registration process, while six parents (14.3%) had difficulty. With regards to accessing funding, 27 (64.3%) reported having no difficulty, 11 (26.2%) stated that it was difficult and 4 parents did not comment. Twenty-six parents (61.9%) reported that it was easy to communicate with the NDIA, while 12 (28.6%) found it difficult. Overall, 26 (61.9%) parents were satisfied with the NDIS and NDIA, 6 (14.8%) were unsatisfied and 9 (21.4%) were neutral. CONCLUSION: The majority of parents were satisfied with both the processes required to register and access funding through the NDIS for early intervention services for their children with developmental disabilities, and their ability to communicate with the NDIA.
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13. Reed P, Picton L, Grainger N, Osborne LA. {{Impact of Diagnostic Practices on the Self-Reported Health of Mothers of Recently Diagnosed Children with ASD}}. {Int J Environ Res Public Health};2016;13(9)
Objectives: Obtaining a diagnosis of an Autism Spectrum Disorder (ASD) for a child is a pivotal point in developing the treatment plan for the child but can also be regarded as highly stressful by parents. The current study examined the impact of different aspects of the diagnosis process on the self-reported mental health of mothers of children undergoing a diagnosis for ASD in a cross-sectional cohort design. Methods: One-hundred-fifty-eight mothers of consequently diagnosed children with ASD participated. The severity of the children’s ASD and their intellectual functioning was assessed within twelve months of the diagnosis, and the mothers completed a psychometric assessment battery including the Hospital Anxiety and Depression Scale, General Health Questionnaire, and Questionnaire on Resources and Stress. Results: The actual time from first reporting a problem to obtaining a diagnosis, and the speed of the diagnostic process from first to last appointment, were both negatively related to patenting stress. In contrast, mothers’ perceptions of the speed and helpfulness of the process were negatively related to levels of anxiety and depression. The number of professionals involved in the process and the perceived coherence of the diagnosis were also negatively related to aspects of mothers’ functioning. Conclusions: Care is needed to help mothers through the diagnostic process with regard to their own functioning. Providing information and help sources throughout the process, while keeping the number of professionals involved to a minimum, may improve the parent perception of the process and reduce the negative impacts of the diagnosis on the family as a whole.
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14. Schafer EC, Wright S, Anderson C, Jones J, Pitts K, Bryant D, Watson M, Box J, Neve M, Mathews L, Reed MP. {{Assistive technology evaluations: Remote-microphone technology for children with Autism Spectrum Disorder}}. {J Commun Disord};2016 (Aug 26);64:1-17.
The goal of this study was to conduct assistive technology evaluations on 12 children diagnosed with Autism Spectrum Disorder (ASD) to evaluate the potential benefits of remote-microphone (RM) technology. A single group, within-subjects design was utilized to explore individual and group data from functional questionnaires and behavioral test measures administered, designed to assess school- and home-based listening abilities, once with and once without RM technology. Because some of the children were unable to complete the behavioral test measures, particular focus was given to the functional questionnaires completed by primary teachers, participants, and parents. Behavioral test measures with and without the RM technology included speech recognition in noise, auditory comprehension, and acceptable noise levels. The individual and group teacher (n=8-9), parent (n=8-9), and participant (n=9) questionnaire ratings revealed substantially less listening difficulty when RM technology was used compared to the no-device ratings. On the behavioral measures, individual data revealed varied findings, which will be discussed in detail in the results section. However, on average, the use of the RM technology resulted in improvements in speech recognition in noise (4.6dB improvement) in eight children, higher auditory working memory and comprehension scores (12-13 point improvement) in seven children, and acceptance of poorer signal-to-noise ratios (8.6dB improvement) in five children. The individual and group data from this study suggest that RM technology may improve auditory function in children with ASD in the classroom, at home, and in social situations. However, variability in the data and the inability of some children to complete the behavioral measures indicates that individualized assistive technology evaluations including functional questionnaires will be necessary to determine if the RM technology will be of benefit to a particular child who has ASD.
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15. Scholz C, Steinemann D, Malzer M, Roy M, Arslan-Kirchner M, Illig T, Schmidtke J, Stuhrmann M. {{NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?}}. {Eur J Med Genet};2016 (Sep 2)
We report on an 8-year-old boy with autism spectrum disorder (ASD), speech delay, behavioural problems, disturbed sleep and macrosomia including macrocephaly carrying a microdeletion that contains the entire NCAM2 gene and no other functional genes. Other family members with the microdeletion show a large skull circumference but do not exhibit any symptoms of autism spectrum disorder. Among many ASD-candidate genes, NCAM2 has been assumed to play a pivotal role in the development of ASD because of its function in the outgrowth and bundling of neurites. Our reported case raises the questions whether the NCAM2-deletion is the true cause of the ASD or only a risk factor and whether there might be any connection in NCAM2 with skull-size Key words: autism spectrum disorder, macrocephaly, neural cell adhesion molecule 2 protein (NCAM2), array comparative genomic hybridization (microarray).
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16. Shedlock K, Susi A, Gorman GH, Hisle-Gorman E, Erdie-Lalena CR, Nylund CM. {{Autism Spectrum Disorders and Metabolic Complications of Obesity}}. {J Pediatr};2016 (Aug 31)
OBJECTIVES: To assess for an increased risk of obesity, type 2 diabetes mellitus, hypertension, hyperlipidemia, and nonalcoholic fatty liver disease/nonalcoholic steatohepatitis in children with autism spectrum disorders (ASD). Additionally, to determine the rates of prescribed treatment for obesity-related metabolic disorders and to determine whether treatment with psychotropic medications is associated with the development of obesity for children with ASD. STUDY DESIGN: A retrospective 1:5 case-control study was performed by use of the Military Health System database from October 2000 to September 2013. For children with ASD and matched controls, International Classification of Diseases, Ninth Revision, Clinical Modification diagnostic codes for obesity, type 2 diabetes mellitus, hypertension, hyperlipidemia, nonalcoholic fatty liver disease/nonalcoholic steatohepatitis, and prescriptions were obtained. Conditional logistic regression determined ORs and 95% CIs. RESULTS: A total of 48 762 individuals with ASD and 243 810 matched controls were identified. Children with ASD had significantly greater odds of having obesity (OR 1.85; 95% CI 1.78-1.92), having obesity-related disorders, and being prescribed a medication when they had these diseases. In children with ASD, mood stabilizers, antipsychotics, antiepileptic drugs, and selective serotonin reuptake inhibitors were associated with obesity. CONCLUSIONS: Children with ASD have an increased risk of obesity and obesity-related metabolic disorders. They are more likely to be prescribed medications to treat these complications, suggesting they may have more severe disease. There is a significant association between the use of some psychotropic categories and a diagnosis of obesity, suggesting that obesity in children with ASD may be partially iatrogenic.
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17. Tabet R, Vitale N, Moine H. {{Fragile X syndrome: Are signaling lipids the missing culprits?}}. {Biochimie};2016 (Sep 3)
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and autism. FXS results from the absence of FMRP, an RNA binding protein associated to ribosomes that influences the translation of specific mRNAs in post-synaptic compartments of neurons. The main molecular consequence of the absence of FMRP is an excessive translation of neuronal protein in several areas of the brain. This local protein synthesis deregulation is proposed to underlie the defect in synaptic plasticity responsible for FXS. Recent findings in neurons of the fragile X mouse model (Fmr1-KO) uncovered another consequence of the lack of FMRP: a deregulation of the diacylglycerol (DAG)/phosphatidic acid (PA) homeostasis. DAG and PA are two interconvertible lipids that influence membrane architecture and that act as essential signaling molecules that activate various downstream effectors, including master regulators of local protein synthesis and actin polymerization. As a consequence, DAG and PA govern a variety of cellular processes, including cell proliferation, vesicle/membrane trafficking and cytoskeletal organization. At the synapse, the level of these lipids is proposed to influence the synaptic activation status. FMRP appears as a master regulator of this neuronal process by controlling the translation of a diacylglycerol kinase enzyme that converts DAG into PA. The deregulated levels of DAG and PA caused by the absence of FMRP could represent a novel therapeutic target for the treatment of FXS.
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18. Tanoue K, Takamasu T, Matsui K. {{Food repertoire histories of children with autism spectrum disorder in Japan}}. {Pediatr Int};2016 (Sep 7)
BACKGROUND AND OBJECTIVES: Food selectivity is commonly reported in children with autism spectrum disorder (ASD). We aimed to investigate the eating habit histories of children with ASD. METHODS: We analyzed 3-day food records completed by the parents and assessed how many unique foods each child consumed. The parents were also interviewed about their child’s diet of complementary foods and estimated number of food repertoires at the ages of 3, 6, 12 and 18 years. RESULTS: We enrolled 28 participants in this study. Food repertoires for some participants showed ongoing changes from the age 3 years onward. In 2 cases, although the number of food repertoires at age 3 years was about 50, this decreased markedly, becoming severely limited, by age 5 years. One of the reasons for repertoires diminishing wad infections, such as acute gastroenteritis and upper respiratory tract infection. On the other hand, there were 5 cases with a severely limited food repertoire at age 3 years who later showed an increase to 15 or more. Four cases had good opportunities at school to increase their food repertoires. CONCLUSIONS: Dietary histories varied and changed in response to new opportunities, education and/or the environment. In some cases the number of repertoires decreased gradually for anxiety and stress, resulting in a severely limited food repertoire. Some cases had good opportunities to increase their repertoires at school. If an effective program in the early years achieves progress, the eating habits of children with ASD might be changed. This article is protected by copyright. All rights reserved.
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19. Vivanti G, Hocking DR, Fanning P, Dissanayake C. {{Social affiliation motives modulate spontaneous learning in Williams syndrome but not in autism}}. {Mol Autism};2016;7(1):40.
BACKGROUND: Children with autism spectrum disorder (ASD) and those with Williams syndrome (WS) have difficulties with learning, though the nature of these remains unclear. METHODS: In this study, we used novel eye-tracking and behavioral paradigms to measure how 36 preschoolers with ASD and 21 age- and IQ-matched peers with WS attend to and learn novel behaviors (1) from the outcomes of their own actions (non-social learning), (2) through imitation of others’ actions (social learning), and across situations in which imitative learning served either an instrumental function or fulfilled social affiliation motives. RESULTS: The two groups demonstrated similar abilities to learn from the consequences of their own actions and to imitate new actions that were instrumental to the achievement of a tangible goal. Children with WS, unlike those with ASD, increased their attention and imitative learning performance when the model acted in a socially engaging manner. CONCLUSIONS: Learning abnormalities in ASD appear to be linked to the social rather than instrumental dimensions of learning.
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20. Weston L, Hodgekins J, Langdon PE. {{Effectiveness of cognitive behavioural therapy with people who have autistic spectrum disorders: A systematic review and meta-analysis}}. {Clin Psychol Rev};2016 (Aug 4);49:41-54.
The aims of this study were to undertake a meta-analytic and systematic appraisal of the literature investigating the effectiveness of cognitive behavioural therapy (CBT) when used with individuals who have autistic spectrum disorders (ASDs) for either a) affective disorders, or b) the symptoms of ASDs. Following a systematic search, 48 studies were included. CBT, used for affective disorders, was associated with a non-significant small to medium effect size, g=0.24, for self-report measures, a significant medium effect size, g=0.66, for informant-report measures, and a significant medium effect size, g=0.73, for clinician-report measures. CBT, used as a treatment for symptoms of ASDs, was associated with a small to medium non-significant effect size, g=0.25, for self-report measures, a significant small to medium effect size, g=0.48, for informant-report measures, a significant medium effect size, g=0.65, for clinician-report measures, and a significant small to medium effect size, g=0.35, for task-based measures. Sensitivity analyses reduced effect size magnitude, with the exception of that based on informant-report measures for the symptoms of ASDs, which increased, g=0.52. Definitive trials are needed to demonstrate that CBT is an empirically validated treatment for use with people who have ASDs.
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21. Whitmore KE. {{Respite Care and Stress Among Caregivers of Children With Autism Spectrum Disorder: An Integrative Review}}. {J Pediatr Nurs};2016 (Aug 31)
While parenting, in general, can be stressful, mothers of children with autism spectrum disorder (ASD) experience chronic stress comparable to combat soldiers. Research suggests that respite care may potentially reduce stress among caregivers. However, greater understanding of this relationship is needed. The purpose of this integrative review is to examine the relationship between respite care and stress among caregivers of children with ASD. SAMPLE AND ELIGIBILITY: A final sample of 11 primary research reports were located using several databases. Articles were included that were: related to the focus of the review, written in English, and published within the last 10 years. RESULTS AND CONCLUSION: While most studies found that respite care was associated with lower stress, several found that respite care was associated with higher stress. One study found no association. A model is presented that contributes to a new understanding of this relationship. Overall, the results of this integrative review provide some evidence that respite care use may be associated with a decrease in stress among caregivers of children with ASD. However, due to the lack of consistency and quality across the studies, these findings must be interpreted with caution. IMPLICATIONS: Healthcare providers must recognize the importance of tailoring respite care services to the unique family needs. Additionally, policy changes and innovative ideas are needed to help improve the quality of respite care and help expand access. Finally, additional research is necessary to better understand the relationship between respite care and stress among caregivers of children with ASD.
