1. Akins RS, Krakowiak P, Angkustsiri K, Hertz-Picciotto I, Hansen RL. {{Utilization patterns of conventional and complementary/alternative treatments in children with autism spectrum disorders and developmental disabilities in a population-based study}}. {Journal of developmental and behavioral pediatrics : JDBP}. 2014 Jan;35(1):1-10.
OBJECTIVE: To compare the utilization of conventional treatments and utilization of complementary and alternative medicine in preschoolers with autism spectrum disorders (ASD) and other developmental disabilities (DD). METHODS: Participants were 578 children who were part of an ongoing population-based, case-control study of 2- to 5-year olds with ASD, DD, and the general population. Parents completed an interview on past and current services. RESULTS: Four hundred fifty-three children with ASD and 125 DD children were included. ASD families received more hours of conventional services compared with DD families (17.8 vs 11; p < .001). The use of psychotropic medications was low in both groups (approximately 3%). Overall, complementary and alternative medicine (CAM) use was not significantly different in ASD (39%) versus DD (30%). Hispanic families in both groups used CAM less often than non-Hispanic families. Variables such as level of function, immunization status, and the presence of an identified neurogenetic disorder were not predictive of CAM use. A higher level of parental education was associated with an increased CAM use in ASD and DD. Families who used >20 hours per week of conventional services were more likely to use CAM, including potentially unsafe or disproven CAM. Underimmunized children were marginally more likely to use CAM but not more likely to have received potentially unsafe or disproven CAM. CONCLUSION: Use of CAM is common in families of young children with neurodevelopmental disorders, and it is predicted by higher parental education and non-Hispanic ethnicity but not developmental characteristics. Further research should address how health care providers can support families in making decisions about CAM use.
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2. Atun-Einy O, Lotan M, Harel Y, Shavit E, Burstein S, Kempner G. {{Physical Therapy for Young Children Diagnosed with Autism Spectrum Disorders-Clinical Frameworks Model in an Israeli Setting}}. {Frontiers in pediatrics}. 2013;1:19.
Recent research findings suggest that many children with Autism Spectrum Disorders (ASD) demonstrate delayed and atypical motor achievements. It has now become clear that a more holistic, integrative and multi-disciplinary intervention is required to effectively address the motor-related impairments of this population. It is also crucial to ensure that this group of clients has access to early physical therapy (PT) interventions. Despite accumulating research on physical interventions, little is known about intervention model for implementation at a national level. This report introduces a model that uniquely illustrates implementation of PT services for a large number of children with ASD. The model has been operating for the past 2 years in one country (Israel), and includes an optional implementation model of PT practice settings for young children diagnosed with ASD. The Israeli setting offers a unique opportunity for implementing PT services for a multitude of children with ASD on a regular basis as an accepted/needed service. The initial outcomes of the present implementation suggest that an intensive PT intervention program might enhance therapeutic outcomes for this population, and contribute to our knowledge on the potential of PT for individuals with ASD.
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3. Barron-Linnankoski S, Reinvall O, Lahervuori A, Voutilainen A, Lahti-Nuuttila P, Korkman M. {{Neurocognitive performance of children with higher functioning Autism Spectrum disorders on the NEPSY-II}}. {Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence}. 2014 Jan 8.
This study examined patterns of strengths and weaknesses in the neurocognitive performance of children with higher functioning autism spectrum disorder (ASD). The participants were 30 children with higher functioning ASD ranging from 6 to 11 years, and 60 typically developing (TD) children, who were matched with the children with higher functioning ASD in terms of age, gender, and maternal education. The TD children were drawn from the Finnish standardization sample for the NEPSY-II. The cognitive abilities of the children with higher functioning ASD were assessed with the WISC-III, and the neurocognitive performance of the children with higher functioning ASD and TD children on the NEPSY-II was compared. The children with higher functioning ASD were found to have strengths in verbal reasoning skills with respect to the population mean and weaknesses in set-shifting, verbal fluency, and narrative memory in comparison with the TD children. Minor weaknesses were also observed in facial memory and fine and visuomotor skills.
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4. Chmielnicki E. {{Autism: Bacterial link to autistic behaviors}}. {Nature medicine}. 2014 Jan 7;20(1):28.
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5. Cuddapah VA, Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, Percy AK, Neul JL, Olsen ML. {{Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome}}. {Journal of medical genetics}. 2014 Jan 7.
BACKGROUND: Rett syndrome (RTT), a neurodevelopmental disorder that primarily affects girls, is characterised by a period of apparently normal development until 6-18 months of age when motor and communication abilities regress. More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. Surprisingly, although the disorder is caused by mutations in a single gene, disease severity in affected individuals can be quite variable. To explore the source of this phenotypic variability, we propose that specific MECP2 mutations lead to different degrees of disease severity. METHODS: Using a database of 1052 participants assessed over 4940 unique visits, the largest cohort of both typical and atypical RTT patients studied to date, we examined the relationship between MECP2 mutation status and various phenotypic measures over time. RESULTS: In general agreement with previous studies, we found that particular mutations, such as p.Arg133Cys, p.Arg294X, p.Arg306Cys, 3 degrees truncations and other point mutations, were relatively less severe in both typical and atypical RTT. In contrast, p.Arg106Trp, p.Arg168X, p.Arg255X, p.Arg270X, splice sites, deletions, insertions and deletions were significantly more severe. We also demonstrated that, for most mutation types, clinical severity increases with age. Furthermore, of the clinical features of RTT, ambulation, hand use and age at onset of stereotypies are strongly linked to overall disease severity. CONCLUSIONS: We have confirmed that MECP2 mutation type is a strong predictor of disease severity. These data also indicate that clinical severity continues to become progressively worse regardless of initial severity. These findings will allow clinicians and families to anticipate and prepare better for the needs of individuals with RTT.
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6. Dudova I, Hrdlicka M. {{Olfactory functions are not associated with autism severity in autism spectrum disorders}}. {Neuropsychiatric disease and treatment}. 2013;9:1847-51.
BACKGROUND: Changes in olfactory functions have been found in many neurodegenerative and psychiatric disorders, including autism spectrum disorders (ASDs). The aim of the present study was to evaluate the relationship between olfactory functions (odor-detection thresholds, odor identification, and odor preference) and autism severity and sensory-related behavior in children and adolescents with ASD. SUBJECTS AND METHODS: Our sample consisted of 35 high-functioning patients with ASD (mean age 10.8+/-3.6 years, 31 boys). Olfactory testing (threshold and identification) used the Sniffin’ Sticks test. Odor pleasantness was assessed on a 5-point scale using the Identification part of the Sniffin’ Sticks test. The severity of autistic psychopathology was measured using the Childhood Autism Rating Scale (CARS). RESULTS: Using Spearman’s correlation, we found no significant correlations between autism severity (as expressed by total CARS score) and odor-detection thresholds (R=0.144, P=0.409), odor identification (R=0.07, P=0.966), or odor pleasantness (R=-0.046, P=0.794). There was also no significant relationship between CARS item 9 (« Taste, smell, and touch response and use ») and odor-detection thresholds (R=0.170, P=0.330), odor identification (R=0.282, P=0.100), or odor pleasantness (R=0.017, P=0.923). CONCLUSION: We did not find any significant relationship between the severity of autistic psychopathology and olfactory functions.
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7. Evers K, de-Wit L, Van der Hallen R, Haesen B, Steyaert J, Noens I, Wagemans J. {{Brief Report: Reduced Grouping Interference in Children with ASD: Evidence from a Multiple Object Tracking Task}}. {J Autism Dev Disord}. 2014 Jan 9.
This study was inspired by the more locally oriented processing style in autism spectrum disorders (ASD). A modified multiple object tracking (MOT) task was administered to a group of children with and without ASD. Participants not only had to distinguish moving targets from distracters, but they also had to track targets when they were visually grouped to distracters, a manipulation which has a detrimental effect on tracking performance in adults. MOT performance in the ASD group was also affected by grouping, but this effect was significantly reduced. This result highlights how the reduced bias towards more global processing in ASD could influence further stages of cognition by altering the way in which attention selects information for further processing.
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8. Kim SY, Tassone F, Simon TJ, Rivera SM. {{Altered neural activity in the ‘when’ pathway during temporal processing in fragile X premutation carriers}}. {Behavioural brain research}. 2014 Jan 4.
Mutations of the fragile X mental retardation 1 (FMR1) gene are the genetic cause of fragile X syndrome (FXS). Large expansions of the CGG repeat (> 200 repeats) consequently result in transcriptional silencing of the FMR1 gene and deficiency/absence of the FMR1 protein (FMRP). Carriers with a premutation allele (55 to 200 of CGG repeats) are often associated with mildly reduced levels of FMRP and/or elevated levels of FMR1 mRNA. Recent studies have shown that infants with FXS exhibit severely reduced resolution of temporal attention, whereas spatial resolution of attention is not impaired. Following from these findings in the full mutation, the current study used fMRI to examine whether premutation carriers would exhibit atypical temporal processing at behavioral and/or neural levels. Using spatial and temporal working memory (SWM and TWM) tasks, separately tagging spatial and temporal processing, we demonstrated that neurotypical adults showed greater activation in the ‘when pathway’ (i.e., the right temporoparietal junction: TPJ) during TWM retrieval than SWM retrieval. However, premutation carriers failed to show this increased involvement of the right TPJ during retrieval of temporal information. Further, multiple regression analyses on right TPJ activation and FMR1 gene expression (i.e., CGG repeat size and FMR1 mRNA) suggests that elevated FMR1 mRNA level is a powerful predictor accounting for reduced right TPJ activation associated with temporal processing in premutation carriers. In conclusion, the current study provides the first evidence on altered neural correlates of temporal processing in adults with the premutation, explained by their FMR1 gene expression.
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9. Kim YS. {{Autism and specific language impairment: to know what we see, or how your sample determines what you observe}}. {The American journal of psychiatry}. 2014 Jan 1;171(1):5-8.
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10. Matsuishi T. {{[Rett syndrome: the state of research, and future perspectives]}}. {Nihon rinsho Japanese journal of clinical medicine}. 2013 Nov;71(11):2043-53.
Rett syndrome (RTT) is a neurodevelopmental disorder characterized by normal early psychomotor development followed by the loss of psychomotor and acquired purposeful hand skills and the onset of stereotyped movement of the hands and gait disturbance. The causative gene was discovered, and the disease was found to be caused by a mutation of methyl-CpG-binding protein 2. However, in many ways this clinically peculiar condition remains a mystery. I review the current status of clinical and basic research on RTT including data on the neurophysiology of the disease, neurotransmitter involvement, neuroimaging and neuropathology findings, molecular biology, animal models, regenerative medicine including ES cells and iPS cells, and other interventions and therapeutic trials.
11. Perez Velazquez JL, Galan RF. {{Information gain in the brain’s resting state: A new perspective on autism}}. {Frontiers in neuroinformatics}. 2013;7:37.
Along with the study of brain activity evoked by external stimuli, an increased interest in the research of background, « noisy » brain activity is fast developing in current neuroscience. It is becoming apparent that this « resting-state » activity is a major factor determining other, more particular, responses to stimuli and hence it can be argued that background activity carries important information used by the nervous systems for adaptive behaviors. In this context, we investigated the generation of information in ongoing brain activity recorded with magnetoencephalography (MEG) in children with autism spectrum disorder (ASD) and non-autistic children. Using a stochastic dynamical model of brain dynamics, we were able to resolve not only the deterministic interactions between brain regions, i.e., the brain’s functional connectivity, but also the stochastic inputs to the brain in the resting state; an important component of large-scale neural dynamics that no other method can resolve to date. We then computed the Kullback-Leibler (KLD) divergence, also known as information gain or relative entropy, between the stochastic inputs and the brain activity at different locations (outputs) in children with ASD compared to controls. The divergence between the input noise and the brain’s ongoing activity extracted from our stochastic model was significantly higher in autistic relative to non-autistic children. This suggests that brains of subjects with autism create more information at rest. We propose that the excessive production of information in the absence of relevant sensory stimuli or attention to external cues underlies the cognitive differences between individuals with and without autism. We conclude that the information gain in the brain’s resting state provides quantitative evidence for perhaps the most typical characteristic in autism: withdrawal into one’s inner world.
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12. Sakai C, Miller K, Brussa AK, Macpherson C, Augustyn M. {{Challenges of autism in the inpatient setting}}. {Journal of developmental and behavioral pediatrics : JDBP}. 2014 Jan;35(1):82-4.
CASE: Julie is a 4-year-old girl with autism spectrum disorder (ASD) who presented to the emergency room with severe unilateral hip pain and limping. Initial evaluation indicated increased inflammatory markers and blasts on a blood smear. A bone marrow biopsy revealed acute lymphoblastic leukemia (ALL), and Julie was admitted for induction chemotherapy.Julie was diagnosed with ASD 1 year before this presentation. Her parents, who had immigrated to the United States from China before her birth, indicated that it took them some time to accept the diagnosis of ASD but they were feeling more confident in addressing her behavior challenges and comfortable with the progress she had been making. They now expressed concerns about the possible loss of services in the setting of her hospitalization. At the time of diagnosis, Julie had been receiving in-home behavioral therapy (applied behavioral analysis), speech therapy, and occupational therapy at a hospital-based center. In addition, she had an individualized education plan and was enrolled in a specialized preschool classroom for children with ASD.As Julie’s hospital stay became more prolonged, her medical care team started reporting more challenges communicating with Julie without the presence of 1 of her parents, difficulty conducting routine care (e.g., obtaining vitals), sleep disruption, and safety concerns (e.g., Julie would frequently climb on the window sill increasing her fall risk). As her primary care clinician, you are called by the hospital team to help bridge the communication and behavioral divide that has widened-what would you do next?
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13. Samms-Vaughan ME. {{The status of early identification and early intervention in autism spectrum disorders in lower- and middle-income countries}}. {International journal of speech-language pathology}. 2014 Jan 7.
There is limited information on autism spectrum disorders from lower- and middle-income countries (LMIC). This paper reviews the status of early identification and early intervention for autism spectrum disorders in response to the article by Camarata (2014) . The PubMed database was searched to identify relevant epidemiological studies from LMIC. Seven studies from five countries were identified: Colombia, India, Jamaica, Jordan, and Mexico. The mean age of parental concern, at 21-24 months, and mean age of diagnosis, at 45-57 months, were similar in LMIC, but later than in high-income countries. Both country groups reported language disorder to be the symptom of initial concern. Similarities in biological aspects of the disorders were noted across LMIC and high-income countries. Comparable ages of identification and diagnosis across vastly different LMIC suggest limited resources to be the underlying contributory factor. Recommendations for improving early identification and intervention made by researchers in the LMIC are reported.
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14. Shao S, Xu S, Yang J, Zhang T, He Z, Sun Z, Song R. {{A commonly carried genetic variant, rs9616915, in SHANK3 gene is associated with a reduced risk of autism spectrum disorder: replication in a Chinese population}}. {Molecular biology reports}. 2014 Jan 8.
Autism spectrum disorder (ASD) is one of neurodevelopmental disorders with highly heritability. Recently, abnormality at the synapse is found to be important etiology of ASD. SHANK3 gene is suggested as a strong candidate gene for the pathogenesis of ASD, because it is essential for normally synaptic structure and function. We performed a case-control study to identify association between rs9616915 of the SHANK3 gene and ASD in a Chinese population. Genomic DNA was extracted from oral swabs samples of 212 patients and 636 controls and the SNP genotypes were determined by a polymerase chain reaction-restriction fragment length polymerase assay. Significant difference in genotype distribution of rs9616915 was observed between cases and controls by Pearson’s chi 2 test (chi 2 = 6.92, P = 0.031). Genetic analysis of heterozygous model, dominant model and additive model showed an association of the C allele of the rs9616915 with ASD (e.g., additive model, OR 0.582, 95 % CI 0.359-0.942, P = 0.028). In conclusion, our results suggested that this commonly genetic variant in SHANK3 gene strikingly decreased the risk of ASD in China.
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15. Spilioti M, Evangeliou AE, Tramma D, Theodoridou Z, Metaxas S, Michailidi E, Bonti E, Frysira H, Haidopoulou A, Asprangathou D, Tsalkidis AJ, Kardaras P, Wevers RA, Jakobs C, Gibson KM. {{Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD)}}. {Frontiers in human neuroscience}. 2013;7:858.
We screened for the presence of inborn errors of metabolism (IEM) in 187 children (105 males; 82 females, ages 4-14 years old) who presented with confirmed features of autism spectrum disorder (ASD). Twelve patients (7%) manifested increased 3-hydroxyisovaleric acid (3-OH-IVA) excretion in urine, and minor to significant improvement in autistic features was observed in seven patients following supplementation with biotin. Five diagnoses included: Lesch Nyhan syndrome (2), succinic semialdehyde dehydrogenase (SSADH) deficiency (2), and phenylketonuria (1) (2.7%). Additional metabolic disturbances suggestive of IEMs included two patients whose increased urine 3-OH-IVA was accompanied by elevated methylcitrate and lactate in sera, and 30 patients that showed abnormal glucose-loading tests. In the latter group, 16/30 patients manifested increased sera beta hydroxybutyrate (b-OH-b) production and 18/30 had a paradoxical increase of sera lactate. Six patients with elevated b-OH-b in sera showed improved autistic features following implementation of a ketogenic diet (KD). Five patients showed decreased serum ketone body production with glucose loading. Twelve of 187 patients demonstrated non-specific MRI pathology, while 25/187 had abnormal electroencephalogram (EEG) findings. Finally, family history was positive for 22/187 patients (1st or 2nd degree relative with comparable symptomatology) and consanguinity was documented for 12/187 patients. Our data provide evidence for a new biomarker (3-OH-IVA) and novel treatment approaches in ASD patients. Concise 1 sentence take-home message: Detailed metabolic screening in a Greek cohort of ASD patients revealed biomarkers (urine 3-hydroxyisovaleric acid and serum b-OH-b) in 7% (13/187) of patients for whom biotin supplementation or institution of a KD resulted in mild to significant clinical improvement in autistic features.
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16. Tomlinson M, Yasamy MT, Emerson E, Officer A, Richler D, Saxena S. {{Setting global research priorities for developmental disabilities, including intellectual disabilities and autism}}. {Journal of intellectual disability research : JIDR}. 2014 Jan 7.
OBJECTIVES: The prevalence of intellectual disabilities (ID) has been estimated at 10.4/1000 worldwide with higher rates among children and adolescents in lower income countries. The objective of this paper is to address research priorities for development disabilities, notably ID and autism, at the global level and to propose the more rational use of scarce funds in addressing this under-investigated area. METHODS: An expert group was identified and invited to systematically list and score research questions. They applied the priority setting methodology of the Child Health and Nutrition Research Initiative (CHNRI) to generate research questions and to evaluate them using a set of five criteria: answerability, feasibility, applicability and impact, support within the context and equity. FINDINGS: The results of this process clearly indicated that the important priorities for future research related to the need for effective and efficient approaches to early intervention, empowerment of families supporting a person with developmental disability and to address preventable causes of poor health in people with ID and autism. CONCLUSIONS: For the public health and other systems to become more effective in delivering appropriate support to persons with developmental disabilities, greater (and more targeted) investment in research is required to produce evidence of what works consistent with international human rights standards.
