1. Adams CM. {{Patient report: autism spectrum disorder treated with camel milk}}. {Glob Adv Health Med};2013 (Nov);2(6):78-80.
This patient report is about my son, who was diagnosed with autism spectrum disorder (ASD) at 3 years of age, and the effects I observed when he began drinking camel milk daily. Beginning at age 9, he drank one half cup of raw camel milk a day and experienced overnight an improvement in his symptoms. His continued regular consumption of camel milk was associated with sustained symptom improvements for 6 consecutive years (2007-2013). This patient report is a road map of my navigations, consultations with experts and autism care providers, and the apparent effect of camel milk on autism spectrum disorder (ASD).
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2. Chaminade T, Rosset D, Da Fonseca D, Hodgins JK, Deruelle C. {{Anthropomorphic bias found in typically developing children is not found in children with autistic spectrum disorder}}. {Autism};2013 (Dec 17)
The anthropomorphic bias describes the finding that the perceived naturalness of a biological motion decreases as the human-likeness of a computer-animated agent increases. To investigate the anthropomorphic bias in autistic children, human or cartoon characters were presented with biological and artificial motions side by side on a touchscreen. Children were required to touch one that would grow while the other would disappear, implicitly rewarding their choice. Only typically developing controls depicted the expected preference for biological motion when rendered with human, but not cartoon, characters. Despite performing the task to report a preference, children with autism depicted neither normal nor reversed anthropomorphic bias, suggesting that they are not sensitive to the congruence of form and motion information when observing computer-animated agents’ actions.
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3. Chapleau CA, Lane J, Larimore J, Li W, Pozzo-Miller L, Percy AK. {{Recent Progress in Rett Syndrome and MeCP2 Dysfunction: Assessment of Potential Treatment Options}}. {Future Neurol};2013 (Jan 1);8(1)
Synaptic communication is highly regulated process of contact between cells allowing information to be stored and modified. Synaptic formation and maturation is the result of interactions between intrinsic genetic/molecular factors and the external environment to establish the communication in the brain. One disorder associated with faulty synapse communication is Rett Syndrome (RTT). RTT is the leading form of severe MR in females, affecting approximately 1:10,000 females worldwide, without predisposition to any particular racial or ethnic group. Mutations in MECP2, the gene encoding methyl-CpG-binding protein-2, have been identified in more than 95% of individuals with RTT. Birth and the milestones of early development appear to be normal in individuals with RTT until approximately 6-18 months when in the subsequent months and years that follows, physical, motor, and social-cognitive development enter a period of regression. The clinical management of these individuals is extremely multifaceted, relying on collaborations of specialists and researchers from many different fields. In this critical literature review, we provide an overview of Rett Syndrome, from patient to pathophysiology with a therapeutic summary of clinical trials in RTT and preclinical studies using mouse and cell models of RTT.
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4. Derlig K, Giessl A, Brandstatter JH, Enz R, Dahlhaus R. {{Identification and characterisation of simiate, a novel protein linked to the fragile x syndrome}}. {PLoS One};2013;8(12):e83007.
A strict regulation of protein expression during developmental stages and in response to environmental signals is essential to every cell and organism. Recent research has shown that the mammalian brain is particularly sensitive to alterations in expression patterns of specific proteins and cognitive deficits as well as autistic behaviours have been linked to dysregulated protein expression. An intellectual disability characterised by changes in the expression of a variety of proteins is the fragile X syndrome. Due to the loss of a single mRNA binding protein, the Fragile X Mental Retardation Protein FMRP, vast misregulation of the mRNA metabolism is taking place in the disease. Here, we present the identification and characterisation of a novel protein named Simiate, whose mRNA contains several FMRP recognition motifs and associates with FMRP upon co-precipitation. Sequence analysis revealed that the protein evolved app. 1.7 billion years ago when eukaryotes developed. Applying antibodies generated against Simiate, the protein is detected in a variety of tissues, including the mammalian brain. On the subcellular level, Simiate localises to somata and nuclear speckles. We show that Simiate and nuclear speckles experience specific alterations in FMR1(-/-) mice. An antibody-based block of endogenous Simiate revealed that the protein is essential for cell survival. These findings suggest not only an important role for Simiate in gene transcription and/or RNA splicing, but also provide evidence for a function of nuclear speckles in the fragile X syndrome. Indeed, transcription and splicing are two fundamental mechanisms to control protein expression, that underlie not only synaptic plasticity and memory formation, but are also affected in several diseases associated with mental disabilities.
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5. Erbetta A, Bulgheroni S, Contarino V, Chiapparini L, Esposito S, Vago C, Riva D. {{Neuroimaging Findings in 41 Low-Functioning Children With Autism Spectrum Disorder: A Single-Center Experience}}. {J Child Neurol};2013 (Dec 16)
The data on the rate of brain imaging abnormalities in autistic spectrum disorders are still inconsistent. A recent study on patients with high-functioning autism found that approximately 90% of children had normal magnetic resonance imaging (MRI) scans whereas an unexpected high rate of MRI abnormalities was reported in 77 nonsyndromic autistic children with or without intellectual disability. The aim of this study was to evaluate the prevalence of neuroradiologic findings in low-functioning autistic children compared to controls matched for age. Minor brain abnormalities were found in 44% of patients and 22% of controls. Our main result is the high rate of mega cisterna magna in autistic patients. High rate of minor neuroradiologic abnormalities in low-functioning autistic patients could contribute to the research about the various endophenotypes and complete the clinical assessment of children with autistic spectrum disorder and intellectual disability.
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6. Frye RE, Rossignol D, Casanova MF, Brown GL, Martin V, Edelson S, Coben R, Lewine J, Slattery JC, Lau C, Hardy P, Fatemi SH, Folsom TD, Macfabe D, Adams JB. {{A Review of Traditional and Novel Treatments for Seizures in Autism Spectrum Disorder: Findings from a Systematic Review and Expert Panel}}. {Front Public Health};2013;1:31.
Despite the fact that seizures are commonly associated with autism spectrum disorder (ASD), the effectiveness of treatments for seizures has not been well studied in individuals with ASD. This manuscript reviews both traditional and novel treatments for seizures associated with ASD. Studies were selected by systematically searching major electronic databases and by a panel of experts that treat ASD individuals. Only a few anti-epileptic drugs (AEDs) have undergone carefully controlled trials in ASD, but these trials examined outcomes other than seizures. Several lines of evidence point to valproate, lamotrigine, and levetiracetam as the most effective and tolerable AEDs for individuals with ASD. Limited evidence supports the use of traditional non-AED treatments, such as the ketogenic and modified Atkins diet, multiple subpial transections, immunomodulation, and neurofeedback treatments. Although specific treatments may be more appropriate for specific genetic and metabolic syndromes associated with ASD and seizures, there are few studies which have documented the effectiveness of treatments for seizures for specific syndromes. Limited evidence supports l-carnitine, multivitamins, and N-acetyl-l-cysteine in mitochondrial disease and dysfunction, folinic acid in cerebral folate abnormalities and early treatment with vigabatrin in tuberous sclerosis complex. Finally, there is limited evidence for a number of novel treatments, particularly magnesium with pyridoxine, omega-3 fatty acids, the gluten-free casein-free diet, and low-frequency repetitive transcranial magnetic simulation. Zinc and l-carnosine are potential novel treatments supported by basic research but not clinical studies. This review demonstrates the wide variety of treatments used to treat seizures in individuals with ASD as well as the striking lack of clinical trials performed to support the use of these treatments. Additional studies concerning these treatments for controlling seizures in individuals with ASD are warranted.
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7. Harden CL. {{In utero valproate exposure and autism: long suspected, finally proven}}. {Epilepsy Curr};2013 (Nov);13(6):282-284.
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8. Hviid A, Melbye M, Pasternak B. {{Use of selective serotonin reuptake inhibitors during pregnancy and risk of autism}}. {N Engl J Med};2013 (Dec 19);369(25):2406-2415.
BACKGROUND: Studies have raised concern about an association between the use of selective serotonin reuptake inhibitors (SSRIs) during pregnancy and an increased risk of autism spectrum disorders in the offspring. METHODS: We conducted a cohort study of all singleton live births in Denmark from 1996 through 2005 (626,875 births), with follow-up through 2009. Using Danish population registries, we linked information on maternal use of SSRIs before and during pregnancy, autism spectrum disorders diagnosed in the offspring, and a range of potential confounders. We used a survival analysis of the time to diagnosis in the offspring with Poisson regression to estimate rate ratios of autism spectrum disorders according to maternal use of SSRIs. RESULTS: During 5,057,282 person-years of follow-up, we identified 3892 cases of autism spectrum disorder (incidence rate, 77.0 per 100,000 person-years). A total of 52 cases during 42,400 person-years of follow-up involved offspring of women who were exposed to SSRIs during their pregnancy (incidence rate, 122.6 per 100,000 person-years). As compared with no use of SSRIs both before and during pregnancy, use during pregnancy was not associated with a significantly increased risk of autism spectrum disorders (fully adjusted rate ratio, 1.20; 95% confidence interval [CI], 0.90 to 1.61). Among women who received SSRIs before pregnancy but not during pregnancy, the corresponding fully adjusted rate ratio was 1.46 (95% CI, 1.17 to 1.81). CONCLUSIONS: We did not detect a significant association between maternal use of SSRIs during pregnancy and autism spectrum disorder in the offspring. On the basis of the upper boundary of the confidence interval, our study could not rule out a relative risk up to 1.61, and therefore the association warrants further study. (Funded by the Danish Health and Medicines Authority.).
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9. Iosif AM, Sciolla AF, Brahmbhatt K, Seritan AL. {{Caregiver Burden in Fragile X Families}}. {Curr Psychiatry Rev};2013 (Feb 1);9(1)
Complex caregiving issues occur in multigenerational families carrying the fragile X mutation and premutation. The same family members may care for children or siblings with fragile X syndrome (FXS) and for elderly parents with fragile X-associated tremor/ataxia syndrome (FXTAS). Family caregivers experience anxiety, depression, neglect of personal health care needs, employment difficulties, and loss of social support, leading to isolation and further psychiatric consequences. There is growing awareness of caregiver burden with regard to parents of children with FXS, but much less is known about the needs of informal caregivers of patients with FXTAS. In this paper, we review the available literature to date and provide suggestions for further exploration of caregivers’ needs. Evidence-based strategies to address these needs are included. Many more research studies exploring caregiver burden in multigenerational fragile X families are needed, as well as studies aimed at investigating interventions and their impact on reduction.
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10. Jones W, Klin A. {{Attention to eyes is present but in decline in 2-6-month-old infants later diagnosed with autism}}. {Nature};2013 (Dec 19);504(7480):427-431.
Deficits in eye contact have been a hallmark of autism since the condition’s initial description. They are cited widely as a diagnostic feature and figure prominently in clinical instruments; however, the early onset of these deficits has not been known. Here we show in a prospective longitudinal study that infants later diagnosed with autism spectrum disorders (ASDs) exhibit mean decline in eye fixation from 2 to 6 months of age, a pattern not observed in infants who do not develop ASD. These observations mark the earliest known indicators of social disability in infancy, but also falsify a prior hypothesis: in the first months of life, this basic mechanism of social adaptive action–eye looking–is not immediately diminished in infants later diagnosed with ASD; instead, eye looking appears to begin at normative levels prior to decline. The timing of decline highlights a narrow developmental window and reveals the early derailment of processes that would otherwise have a key role in canalizing typical social development. Finally, the observation of this decline in eye fixation–rather than outright absence–offers a promising opportunity for early intervention that could build on the apparent preservation of mechanisms subserving reflexive initial orientation towards the eyes.
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11. Mody M, Belliveau JW. {{Speech and Language Impairments in Autism: Insights from Behavior and Neuroimaging}}. {N Am J Med Sci (Boston)};2013;5(3):157-161.
A failure to develop language is one of the earliest signs of autism. The ability to identify the neural signature of this deficit in very young children has become increasingly important, given that the presence of speech before five years of age is the strongest predictor for better outcomes in autism. This review consolidates what is known about verbal and preverbal precursors of language development as a framework for examining behavioral and brain anomalies related to speech and language in autism spectrum disorders. Relating the disruptions in the speech network to the social deficits observed will provide promising targets for behavioral and pharmacological interventions in ASD.
12. Oderwald A. {{[Autism as an example for an android]}}. {Ned Tijdschr Geneeskd};2013;157(51):A6831.
Since its introduction in 1921 in the play R.U.R. by Karel Capek we have used the word ‘robot’. Robot stories have a number of themes in common: mortality and immortality, human emotions (and the lack of them), slavery and the possibility of rising up against its (or his?) creator, who wants to sit on Gods throne. The android Data from the Star Trek series The Next Generation shows that there are also medical features which may explain his behaviour.
13. Padmanabhan A, Lynn A, Foran W, Luna B, O’Hearn K. {{Age related changes in striatal resting state functional connectivity in autism}}. {Front Hum Neurosci};2013;7:814.
Characterizing the nature of developmental change is critical to understanding the mechanisms that are impaired in complex neurodevelopment disorders such as autism spectrum disorder (ASD) and, pragmatically, may allow us to pinpoint periods of plasticity when interventions are particularly useful. Although aberrant brain development has long been theorized as a characteristic feature of ASD, the neural substrates have been difficult to characterize, in part due to a lack of developmental data and to performance confounds. To address these issues, we examined the development of intrinsic functional connectivity, with resting state fMRI from late childhood to early adulthood (8-36 years), using a seed based functional connectivity method with the striatal regions. Overall, we found that both groups show decreases in cortico-striatal circuits over age. However, when controlling for age, ASD participants showed increased connectivity with parietal cortex and decreased connectivity with prefrontal cortex relative to typically developed (TD) participants. In addition, ASD participants showed aberrant age-related connectivity with anterior aspects of cerebellum, and posterior temporal regions (e.g., fusiform gyrus, inferior and superior temporal gyri). In sum, we found prominent differences in the development of striatal connectivity in ASD, most notably, atypical development of connectivity in striatal networks that may underlie cognitive and social reward processing. Our findings highlight the need to identify the biological mechanisms of perturbations in brain reorganization over development, which may also help clarify discrepant findings in the literature.
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14. Rossignol DA. {{My experience learning about autism}}. {Glob Adv Health Med};2013 (Nov);2(6):74-77.
I remember the first time I heard the word « autistic. » I was 10 years old, and my mom mentioned that someone had a child who was autistic. I was confused because I mistook her description as « artistic. » In April 2001, our first child, Isaiah, was born. My wife, Lanier, was concerned that he had autism at about 11 months of age, but I did not recognize his obvious problems, even though he was not responding to his name, was obsessed with spinning objects, and did not play with toys appropriately. He also had no language, did not walk until 18 months, and had significant gastrointestinal (GI) problems including severe reflux requiring medication and chronic diarrhea. At 19 months of age, Isaiah was diagnosed with autistic disorder.
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15. Seritan AL, Nguyen DV, Mu Y, Tassone F, Bourgeois JA, Schneider A, Cogswell JB, Cook KR, Leehey MA, Grigsby J, Olichney JM, Adams PE, Legg W, Zhang L, Hagerman PJ, Hagerman RJ. {{Memantine for fragile X-associated tremor/ataxia syndrome: a randomized, double-blind, placebo-controlled trial}}. {J Clin Psychiatry};2013 (Dec 10)
OBJECTIVE: Memantine, an uncompetitive N-methyl-d-aspartate receptor antagonist, is currently approved by the US Food and Drug Administration for the treatment of moderate to severe Alzheimer’s disease. Anecdotal reports have suggested that memantine may improve neurologic and cognitive symptoms of individuals with the neurodegenerative disease fragile X-associated tremor/ataxia syndrome (FXTAS); however, its efficacy and safety in this population have not been assessed in a controlled trial. METHOD: Individuals with FXTAS aged 34-80 years were enrolled in a randomized, double-blind, placebo-controlled, 1-year trial between September 2007 and August 2012. Inclusion required definite, probable, or possible FXTAS in clinical stages 1-5 according to previously published criteria. Primary outcome measures were the Behavioral Dyscontrol Scale (BDS) score and CATSYS intention tremor severity. RESULTS: Ninety-four participants were randomized from 205 screened; of those, 43 and 45 started treatment with memantine (titrated to 10 mg twice daily) and placebo, respectively. Thirty-four participants receiving memantine and 36 receiving placebo completed the 1-year endpoint assessment (n = 70). Intention-to-treat analysis showed no improvement with respect to intention tremor severity (mean [SD] values with memantine vs placebo: 1.05 [0.73] vs 1.89 [2.19], P = .047) or BDS score (16.12 [5.43] vs 15.72 [3.93], P = .727) at follow-up. Post hoc analyses of participants with early FXTAS (stage </= 3), those with late FXTAS (stage > 3), and those in different age groups (</= 65 years and > 65 years) also indicated no significant improvement. More frequent mild adverse events were observed in the placebo group, while more frequent moderate adverse events occurred in the memantine group (P = .007). CONCLUSION: This randomized, double-blind, placebo-controlled trial of memantine for individuals with FXTAS showed no benefit compared to placebo with respect to the selected outcome measures. Trial Registration: ClinicalTrials.gov identifier: NCT00584948.
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16. Sethna F, Moon C, Wang H. {{From FMRP Function to Potential Therapies for Fragile X Syndrome}}. {Neurochem Res};2013 (Dec 18)
Fragile X syndrome (FXS) is caused by mutations in the fragile X mental retardation 1 (FMR1) gene. Most FXS cases occur due to the expansion of the CGG trinucleotide repeats in the 5′ un-translated region of FMR1, which leads to hypermethylation and in turn silences the expression of FMRP (fragile X mental retardation protein). Numerous studies have demonstrated that FMRP interacts with both coding and non-coding RNAs and represses protein synthesis at dendritic and synaptic locations. In the absence of FMRP, the basal protein translation is enhanced and not responsive to neuronal stimulation. The altered protein translation may contribute to functional abnormalities in certain aspects of synaptic plasticity and intracellular signaling triggered by Gq-coupled receptors. This review focuses on the current understanding of FMRP function and potential therapeutic strategies that are mainly based on the manipulation of FMRP targets and knowledge gained from FXS pathophysiology.
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17. Towle PO, Vacanti-Shova K, Shah S, Higgins-D’alessandro A. {{School-Aged Functioning of Children Diagnosed with Autism Spectrum Disorder Before Age Three: Parent-Reported Diagnostic, Adaptive, Medication, and School Placement Outcomes}}. {J Autism Dev Disord};2013 (Dec 18)
Eighty children with early autism spectrum disorder (ASD) diagnoses (under 36 months) were identified using a chart abstraction protocol applied to early intervention charts. Parents filled out questionnaires by mail when the children were school-aged (ages 6-16 years). Similar to previous studies, approximately 20 % no longer had ASD diagnoses; the other participants were assigned to Moderate/Severe versus Mild ASD outcome groups. These three groups were compared across several variables, including diagnostic features and functional features including adaptive behavior, social experiences, medication use, and school placement. The findings expand our knowledge about outcomes in longitudinal studies of children with ASD, as well as provide support for using relatively indirect methods (chart review, parent questionnaire) to gather this type of information.
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18. Trembath D, Vivanti G. {{Problematic but predictive: Individual differences in children with autism spectrum disorders}}. {Int J Speech Lang Pathol};2013 (Dec 18)
Camarata highlights the impact that symptom hetereogeneity, overlap, and individual differences can have on the accurate early diagnosis of children with autism spectrum disorders (ASD) and measurement of treatment outcomes. Nevertheless, these individual differences may provide avenues for predicting individual responses to treatment with the view to prospectively matching children with ASD to treatments best-suited to meeting their individual needs. This commentary suggests that the behavioural characterstics that are critical to accurate early diferential diagnosis of ASD may be poor predictors of outcomes. However, factors that are not unique to ASD may in fact be good predictors of treatment outcomes. This commentary illustrates these points with reference to the results of recent studies demonstrating the problems, and possibilities, that individual differences currently present when it comes to understanding and promoting learning in children with ASD.
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19. Vannucchi G, Masi G, Toni C, Dell’osso L, Marazziti D, Perugi G. {{Clinical features, developmental course, and psychiatric comorbidity of adult autism spectrum disorders}}. {CNS Spectr};2013 (Dec 19):1-8.
Autism spectrum disorders (ASDs) include a heterogeneous group of neurodevelopmental disorders with early onset in childhood. ASDs should be considered lifelong clinical entities, although there is a certain variability in developmental trajectories, and therefore should be considered of great interest also for adulthood psychiatrists. A few studies have been carried out to explore the clinical picture and course development of these disorders during adulthood, or their relationship with other mental disorders. Indeed, ASDs often share overlapping features with other disorders, such as schizophrenia and obsessive-compulsive, mood, and personality disorders, and as a result misdiagnoses often occur. The aim of this review is to summarize the available literature on ASDs in adulthood with a specific focus on the clinical picture, course, and psychiatric comorbidity. It is proposed that a careful diagnostic screening for ASDs in adults would contribute to clarifying the relationship with comorbid psychiatric disorders, while improving the possibility of treatment and outcome of such conditions.
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20. Voigt RG, Mellon MW, Katusic SK, Weaver AL, Matern D, Mellon B, Jensen CL, Barbaresi WJ. {{A Randomized, Double-Blind, Placebo-Controlled Trial of Dietary Docosahexaenoic Acid (DHA) Supplementation in Children with Autism}}. {J Pediatr Gastroenterol Nutr};2013 (Dec 16)
OBJECTIVE:: To determine whether DHA supplementation improves the behavior of children with autism. METHODS:: 3 to 10 year old children with autism were randomized in a double-blind fashion to receive a supplement containing 200 mg of DHA or a placebo for 6 months. Parent and investigator Clinical Global Impressions-Improvement (CGI-I) scales were completed to rate changes in core symptoms of autism after 3 and 6 months. Parents completed the Child Development Inventory (CDI) and Aberrant Behavior Checklist (ABC), and both parents and teachers completed the Behavior Assessment Scale for Children (BASC) at enrollment and after 6 months. RESULTS:: 48 children (40 [83%] male; mean age [SD] = 6.1 [2.0] years) were enrolled; 24 received DHA and 24 placebo. Despite a median 431% increase in total plasma DHA levels after 6 months, the DHA group was not rated as improved in core symptoms of autism compared to the placebo group on the CGI-I. Based on analysis of covariance models adjusted for the baseline rating scores, parents (but not teachers) provided a higher average rating of social skills on the BASC for the children in the placebo group compared to the DHA group (p = 0.04), and teachers (but not parents) provided a higher average rating of functional communication on the BASC for the children in the DHA group compared to the placebo group (p = 0.02). CONCLUSIONS:: Dietary DHA supplementation of 200 mg per day for 6 months does not improve the core symptoms of autism. Our results may have been limited by inadequate sample size.
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21. Volkmar FR, Reichow B. {{Infants and toddlers with autism: The promise and the challenges}}. {Int J Speech Lang Pathol};2013 (Dec 18)
There has been a marked increase in interest in early identification of young children with and at risk for autism. This interest has reflected advances in research as well as an awareness of the potential for major changes in long-term outcome as a result of intervention. Several issues have complicated these efforts. There continue to be challenges to implementation of effective screening and diagnostic approaches in young children. Although the body of evidence-based research on treatment has increased, it remains limited. Despite these issues, important findings have emerged that may assist in fostering better approaches to screening, diagnosis, and documenting treatment impact.
