1. Al Sharif S, Ratnapalan S. {{Managing Children With Autism Spectrum Disorders in Emergency Departments}}. {Pediatr Emerg Care};2016 (Feb);32(2):101-103.
Taking care of children with autism spectrum disorders is not uncommon in emergency departments as they visit hospital for acute medical and psychiatric conditions. The current prevalence and increasing incidence of autism spectrum disorders will increase the demand for hospital and outpatient services for these children, necessitating education of health care professionals and system adaptations. This paper describes a patient with autism spectrum disorder who had some challenging behavior in the emergency department when he presented with anaphylaxis and discusses management strategies that would help in caring for children with autism spectrum disorders.
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2. Barahona-Correa JB, Filipe CN. {{A Concise History of Asperger Syndrome: The Short Reign of a Troublesome Diagnosis}}. {Front Psychol};2015;6:2024.
First described in 1944 by Hans Asperger (1944), it was not before 1994 that Asperger Syndrome (AS) was included in the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders, only to disappear in the Manual’s fifth edition in 2013. During its brief existence as a diagnostic entity, AS aroused immense interest and controversy. Similar to patients with autism, AS patients show deficits in social interaction, inappropriate communication skills, and interest restriction, but also display a rich variety of subtle clinical characteristics that for many distinguish AS from autism. However, difficulties operationalising diagnostic criteria and differentiating AS from autism ultimately led to its merging into the unifying category of Autistic Spectrum Disorders. Here we briefly review the short history of this fascinating condition.
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3. Bayram AK, Kardas F, Demirci EO, Gokahmetoglu S, Ozmen S, Canpolat M, Oztop DB, Kumandas S, Gumus H, Per H. {{Lack of serum antineuronal antibodies in children with autism}}. {Bratisl Lek Listy};2016;117(2):77-79.
OBJECTIVE: Autism spectrum disorders (ASDs) are a severe group of neurodevelopmental disorders that are characterized by impairment in social communication, and imagination and social interaction. The aetiology of autism is complex, but some studies suggest autoimmunity to the central nervous system in the pathogenesis. The aim of this study is to investigate the positivity of antineuronal antibodies including anti-glutamic acid decarboxylase antibodies (anti-GAD), anti-glutamate receptor (anti-GluR) antibodies and seven types of anti-ganglioside antibodies, in children with autism. METHODS: We conducted the study over a period of one year from May 2012 to December 2013. Human anti-GAD in serum were investigated with ELISA; human autoantibodies against the N-methyl-D-aspartate subtype of GluR were investigated with indirect immunofluorescence test; class IgG antibodies against the seven gangliosides were investigated with immunoblot assay. RESULTS: Serum antineuronal antibodies were measured in 42 children (24 male, 18 female) with autism in comparison to 21 (13 male, 8 female) healthy-matched children aged between 2-12 years. There was no seropositivity of antineuronal antibodies in either of the groups. CONCLUSION: There is no evidence to support an association between autism and antibodies positivity of anti-GAD, anti-GluR and anti-gangliosides (Ref. 26).
4. Bergstrom R, Najdowski AC, Alvarado M, Tarbox J. {{Teaching children with autism to tell socially appropriate lies}}. {J Appl Behav Anal};2016 (Feb 1)
This study used a nonconcurrent multiple baseline across participants design to evaluate the use of rules, role-play, and feedback for teaching 3 children with autism spectrum disorder to tell socially appropriate lies when (a) presented with an undesired gift and (b) someone’s appearance changed in an undesired way. The intervention was effective in teaching use of socially appropriate lies, and generalization to untrained people and gifts or appearances was observed.
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5. Carlsson E, Miniscalco C, Kadesjo B, Laakso K. {{Negotiating knowledge: parents’ experience of the neuropsychiatric diagnostic process for children with autism}}. {Int J Lang Commun Disord};2016 (Feb 1)
BACKGROUND: Parents often recognize problems in their child’s development earlier than health professionals do and there is new emphasis on the importance of involving parents in the diagnostic process. In Gothenburg, Sweden, over 100 children were identified as having an autism spectrum disorder (ASD) in 2009-11 through a general population language and autism screening of 2.5 year olds at the city’s child healthcare centres. AIMS: To increase understanding of parents’ lived experience of the neuropsychiatric diagnostic process, i.e. the period from the initial screening at age 2.5 years to the 2-year follow-up of the ASD diagnosis. METHODS & PROCEDURES: A qualitative design, a phenomenological hermeneutic method, was used. Interviews were conducted with parents of 11 children who were diagnosed with ASD 2 years prior. The parents were interviewed about their experiences of the neuropsychiatric diagnostic process, i.e. the time before the screening, the time during the neuropsychiatric multidisciplinary evaluation and the time after diagnosis. The interviews lasted for 45-130 min, and an interview guide with set questions was used. Most of the interviews were conducted at the parents’ homes. OUTCOMES & RESULTS: The essence that emerged from the data was negotiating knowledge, and the three themes capturing the parents’ experiences of going through the process of having their child diagnosed with ASD were seeking knowledge, trusting and challenging experts, and empowered but alone. CONCLUSIONS & IMPLICATIONS: The parents expected intervention to start directly after diagnosis but felt they had to fight to obtain the resources their child needed. After the process, they described that they felt empowered but still alone, i.e. although they received useful and important information about their child, they were left to manage the situation by themselves. As for clinical implications, the study points to the necessity of developing routines to support the parents during and after the diagnostic process. Recommended measures include developing a checklist outlining relevant contacts and agencies, establishing a coordinator responsible for each child, dividing the summary meeting at the clinic into two parts, making more than one visit to the preschool, and providing a parental training programme.
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6. Crawley JN, Heyer WD, LaSalle JM. {{Autism and Cancer Share Risk Genes, Pathways, and Drug Targets}}. {Trends Genet};2016 (Jan 29)
Autism is a neurodevelopmental disorder, diagnosed behaviorally by social and communication deficits, repetitive behaviors, and restricted interests. Recent genome-wide exome sequencing has revealed extensive overlap in risk genes for autism and for cancer. Understanding the genetic commonalities of autism(s) and cancer(s), with a focus on mechanistic pathways, could lead to repurposed therapeutics.
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7. Hoffman EJ, Turner KJ, Fernandez JM, Cifuentes D, Ghosh M, Ijaz S, Jain RA, Kubo F, Bill BR, Baier H, Granato M, Barresi MJ, Wilson SW, Rihel J, State MW, Giraldez AJ. {{Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2}}. {Neuron};2016 (Jan 27)
Autism spectrum disorders (ASDs) are a group of devastating neurodevelopmental syndromes that affect up to 1 in 68 children. Despite advances in the identification of ASD risk genes, the mechanisms underlying ASDs remain unknown. Homozygous loss-of-function mutations in Contactin Associated Protein-like 2 (CNTNAP2) are strongly linked to ASDs. Here we investigate the function of Cntnap2 and undertake pharmacological screens to identify phenotypic suppressors. We find that zebrafish cntnap2 mutants display GABAergic deficits, particularly in the forebrain, and sensitivity to drug-induced seizures. High-throughput behavioral profiling identifies nighttime hyperactivity in cntnap2 mutants, while pharmacological testing reveals dysregulation of GABAergic and glutamatergic systems. Finally, we find that estrogen receptor agonists elicit a behavioral fingerprint anti-correlative to that of cntnap2 mutants and show that the phytoestrogen biochanin A specifically reverses the mutant behavioral phenotype. These results identify estrogenic compounds as phenotypic suppressors and illuminate novel pharmacological pathways with relevance to autism.
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8. Jones PM. {{Thoughtfulness and Grace: End-of-Life Decision Making for Children With Severe Developmental Disabilities}}. {Am J Bioeth};2016 (Feb);16(2):72-73.
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9. Katz DM, Bird A, Coenraads M, Gray SJ, Menon DU, Philpot BD, Tarquinio DC. {{Rett Syndrome: Crossing the Threshold to Clinical Translation}}. {Trends Neurosci};2016 (Feb);39(2):100-113.
Lying at the intersection between neurobiology and epigenetics, Rett syndrome (RTT) has garnered intense interest in recent years, not only from a broad range of academic scientists, but also from the pharmaceutical and biotechnology industries. In addition to the critical need for treatments for this devastating disorder, optimism for developing RTT treatments derives from a unique convergence of factors, including a known monogenic cause, reversibility of symptoms in preclinical models, a strong clinical research infrastructure highlighted by an NIH-funded natural history study and well-established clinics with significant patient populations. Here, we review recent advances in understanding the biology of RTT, particularly promising preclinical findings, lessons from past clinical trials, and critical elements of trial design for rare disorders.
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10. Kern JK, Geier DA, Sykes LK, Geier MR. {{Relevance of Neuroinflammation and Encephalitis in Autism}}. {Front Cell Neurosci};2015;9:519.
In recent years, many studies indicate that children with an autism spectrum disorder (ASD) diagnosis have brain pathology suggestive of ongoing neuroinflammation or encephalitis in different regions of their brains. Evidence of neuroinflammation or encephalitis in ASD includes: microglial and astrocytic activation, a unique and elevated proinflammatory profile of cytokines, and aberrant expression of nuclear factor kappa-light-chain-enhancer of activated B cells. A conservative estimate based on the research suggests that at least 69% of individuals with an ASD diagnosis have microglial activation or neuroinflammation. Encephalitis, which is defined as inflammation of the brain, is medical diagnosis code G04.90 in the International Classification of Disease, 10th revision; however, children with an ASD diagnosis are not generally assessed for a possible medical diagnosis of encephalitis. This is unfortunate because if a child with ASD has neuroinflammation, then treating the underlying brain inflammation could lead to improved outcomes. The purpose of this review of the literature is to examine the evidence of neuroinflammation/encephalitis in those with an ASD diagnosis and to address how a medical diagnosis of encephalitis, when appropriate, could benefit these children by driving more immediate and targeted treatments.
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11. Lucas RF, Cutler A. {{Dysregulated Breastfeeding Behaviors in Children Later Diagnosed With Autism}}. {J Perinat Educ};2015;24(3):171-180.
Newborn breastfeeding behaviors have not been characterized in children later diagnosed with autism spectrum disorder (ASD). In a qualitative interview, 16 mothers (28-56 years) of children with ASD described their 19 full-term infants’ (38-42 weeks’ gestational age) breastfeeding behaviors. Nine mothers described their infants as demonstrating a dysregulated breastfeeding pattern of sucking without stopping of their own volition. The infants’ latch, weight gain, and other behaviors were recalled as not problematic. This feature of dysregulated feeding pattern in infancy has not been reported previously for children with ASD. If supported by future research, the pattern of a dysregulated feeding pattern in newborns could be evaluated by clinicians in the general pediatric population and/or at-risk infant siblings of children with ASD.
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12. Miller HL, Pavlik KM, Kim MA, Rogers KC. {{An Exploratory Study of the Knowledge of Personal Safety Skills Among Children with Developmental Disabilities and Their Parents}}. {J Appl Res Intellect Disabil};2016 (Feb 2)
BACKGROUND: This study assessed the knowledge of personal safety skills among children with developmental disabilities and their parents’ perceptions of children’s knowledge. METHOD: This exploratory study examined the mental health records of 37 children with developmental disabilities referred for an abuse risk reduction group in a community mental health setting. Qualitative analysis of children’s responses to questions about personal safety skills (knowledge related to physical development and personal safety, an appropriate and inappropriate touch and safety skills to respond to an inappropriate touch) indicated participants’ varied and inconsistent levels of knowledge. RESULTS: Consistent with the literature, the results indicate risk factors for sexual abuse among children with developmental disabilities, including children’s difficulty distinguishing between an appropriate and inappropriate touch and the lack of knowledge regarding appropriate venues for disclosing an inappropriate touch. Among parents, a lack of certainty regarding their children’s knowledge and the ability to keep themselves safe was identified. CONCLUSION: Results support the need for education about personal safety for children with developmental disabilities and their families.
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13. Mullard A. {{Fragile X drug development flounders}}. {Nat Rev Drug Discov};2016 (Feb 3);15(2):77.
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14. Munesue T, Nakamura H, Kikuchi M, Miura Y, Takeuchi N, Anme T, Nanba E, Adachi K, Tsubouchi K, Sai Y, Miyamoto K, Horike S, Yokoyama S, Nakatani H, Niida Y, Kosaka H, Minabe Y, Higashida H. {{Oxytocin for Male Subjects with Autism Spectrum Disorder and Comorbid Intellectual Disabilities: A Randomized Pilot Study}}. {Front Psychiatry};2016;7:2.
Approximately half of autism spectrum disorder (ASD) individuals suffer from comorbid intellectual disabilities (IDs). Oxytocin (OXT) receptors are highly expressed in temporal lobe structures and are likely to play a modulatory role in excitatory/inhibitory balance, at least based on animal model findings. Thus, it is feasible that in the highly representative group of Kanner-type ASD subjects, OXT could have a beneficial effect on social communication and social interaction. The aim of this pilot study is to investigate the feasibility and adverse events, such as epilepsy, of the long-term administration of intranasal OXT for adolescent and adult ASD subjects with ID because such patients frequently have seizures. We also addressed the question on how to scale the OXT effects to the core symptoms of social deficits because of the relative difficulty in obtaining objective measurements. Twenty-nine males (aged 15-40 years old) participated in a randomized, double-blind, and placebo-controlled crossover study (each for 8 weeks) with OXT (16 IU/day). Except for seizures experienced by one participant, other serious adverse events did not occur. The primary and secondary outcomes measured using the Childhood Autism Rating Scale and several standard scales, respectively, revealed no difference between the OXT and placebo groups. Instead, in an exploratory analysis, the social interactions observed in the play sessions or in daily life were significantly more frequent in the initial half period in the OXT-first arm of the crossover trial. There were also significant correlations between the plasma OXT concentration and subscale scores for irritability on the Aberrant Behavior Checklist. In conclusion, this pilot study demonstrates that long-term administration of intranasal OXT is tolerable in a representative cohort of ASD individuals with ID and suggests that future multicenter trials of OXT are warranted and should include measurements of reciprocal social interactions based on daily life under closer surveillance for epilepsy. TRIAL REGISTRATION: UMIN000007250.
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15. Omura Y, Lu D, Jones MK, Nihrane A, Duvvi H, Shimotsuura Y, Ohki M. {{Early Detection of Autism (ASD) by a Non-invasive Quick Measurement of Markedly Reduced Acetylcholine & DHEA and Increased beta-Amyloid (1-42), Asbestos (Chrysotile), Titanium Dioxide, Al, Hg & often Coexisting Virus Infections (CMV, HPV 16 and 18), Bacterial Infections etc. in the Brain and Corresponding Safe Individualized Effective Treatment}}. {Acupunct Electrother Res};2015;40(3):157-187.
A brief historical background on Autism & some of the important symptoms associated with Autism are summarized. Using strong Electro Magnetic Field Resonance Phenomenon between 2 identical molecules with identical weight (which received U.S. Patent) non-invasively & rapidly we can detect various molecules including neurotransmitters, bacteria, virus, fungus, metals & abnormal molecules. Simple non- invasive measurement of various molecules through pupils & head of diagnosed or suspected Autism patients indicated that in Autism patients following changes were often found: 1) Acetylcholine is markedly reduced; 2) Alzheimer’s disease markers (i.e. beta-Amyloid (1-42), Tau Protein, Apolipoprotein (Apo E4)) are markedly increased; 3) Chrysotile Asbestos is increased; 4) Titanium Dioxide (TiO2) is moderately increased; 5) Al is moderately increased; 6) Hg is moderately increased; 7) Dopamine, Serotonin & GABA are significantly reduced (up to about 1/10 of normal); 8) Often viral infections (such as CMV, HHV-6, HPV-16, HPV-18, etc.), and Bacterial infections (such as Chlamydia trachomatis, Mycobacterium TB, Borrelia Burgdorferi, etc.) coexist. Research by others on Autism spectrum disorder (ASD) shows that it is a group of complex neurodevelopmental disorders, with about 70% of ASD patients also suffering from gastro-intestinal problems. While Alzheimer disease (AD) is characterized by formation of 1) Amyloid plaques, 2) Neurofibrillary tangles inside of neurons, and 3) Loss of connections between neurons. More than 90% of AD develops in people over the age of 65. These 3 characteristics often progressively worsen over time. Although Autism Spectrum Disorder and Alzheimer’s disease are completely different diseases they have some similar biochemical changes. Eight examples of such measurement & analysis are shown for comparison. Most of Autism patients improved significantly by removing the source or preventing intake of Asbestos, TiO2, Al & Hg or enhancing urinary output of above abnormal substances & coexisting infections, if treatment is given early. When HPV-16 & HPV-18 coexist, at triangular central area of the top of head, in addition to inability to talk, severe neuromuscular problems of lower extremity were found to also exist. However, if treatment is given 3-4 years after onset of Autism symptoms, even when successful biochemical reduction of above abnormal substances occurs, clinical improvement is less significant, since permanent damage in brain tissue seems to already exist. Therefore, early diagnosis & early treatment is very important for both Autism & Alzheimer’s disease. In addition the optimal doses of Vitamin D3 and Taurine may play an important role in the future treatment of Autism, Alzheimer’s Disease and memory disturbances by significantly increasing Acetylcholine and DHEA levels, enhancing the excretion of toxic substances in the urine, as well as having an anticancer effect.
16. Park JH. {{A randomized controlled trial of the computer-based cognitive rehabilitation program for children (CoTras-C) to examine cognitive function and visual perception in children with developmental disabilities}}. {J Phys Ther Sci};2015 (Dec);27(12):3623-3626.
[Purpose] This study aimed to investigate the effects of a computer-based cognitive rehabilitation program for children with developmental disabilities. [Subjects] Subjects included 29 children with developmental disabilities. [Methods] The subjects were randomly allocated to either the experimental group or control group. Experimental group subjects received computer-based cognitive rehabilitation using the CoTras-C while control group subjects received conventional cognitive rehabilitation. All subjects received 20 sessions (2 days a week for 10 weeks) of the experimental or control intervention for 30 minutes. To compare the two groups, the Korean-Developmental Test of Visual Perception-2 and Kaufman Assessment Battery for Children were performed before and after the intervention. [Results] Both groups showed statistically significant improvement in their scores after intervention. Additionally, there were significant differences in the scores between the two groups. [Conclusion] The computer-based cognitive rehabilitation with CoTras-C may be helpful in improving the recovery of cognitive function and visual perception in children with developmental disabilities.
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17. Sevgi M, Diaconescu AO, Tittgemeyer M, Schilbach L. {{Social Bayes: Using Bayesian Modeling to Study Autistic Trait-Related Differences in Social Cognition}}. {Biol Psychiatry};2015 (Dec 9)
BACKGROUND: Autism is characterized by impairments of social interaction, but the underlying subpersonal processes are still a matter of controversy. It has been suggested that the autistic spectrum might be characterized by alterations of the brain’s inference on the causes of socially relevant signals. However, it is unclear at what level of processing such trait-related alterations may occur. METHODS: We used a reward-based learning task that requires the integration of nonsocial and social cues in conjunction with computational modeling. Healthy subjects (N = 36) were selected based on their Autism Quotient Spectrum (AQ) score, and AQ scores were assessed for correlations with model parameters and task scores. RESULTS: Individual differences in AQ were inversely correlated with participants’ task scores (r = -.39, 95% confidence interval [CI] [-.68, -.13]). Moreover, AQ scores were significantly correlated with a social weighting parameter that indicated how strongly the decision was influenced by the social cue (r = -.42, 95% CI [-.66, -.19]), but not with other model parameters. Also, more pronounced social weighting was related to higher scores (r = .50, 95% CI [.20, .86]). CONCLUSIONS: Our results demonstrate that higher autistic traits in healthy subjects are related to lower scores in a learning task that requires social cue integration. Computational modeling further demonstrates that these trait-related performance differences are not explained by an inability to process the social stimuli and its causes, but rather by the extent to which participants take into account social information during decision making.
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18. Sysoeva OV, Davletshina MA, Orekhova EV, Galuta IA, Stroganova TA. {{Reduced Oblique Effect in Children with Autism Spectrum Disorders (ASD)}}. {Front Neurosci};2015;9:512.
People are very precise in the discrimination of a line orientation relative to the cardinal (vertical and horizontal) axes, while their orientation discrimination sensitivity along the oblique axes is less refined. This difference in discrimination sensitivity along cardinal and oblique axes is called the « oblique effect. » Given that the oblique effect is a basic feature of visual processing with an early developmental origin, its investigation in children with Autism Spectrum Disorder (ASD) may shed light on the nature of visual sensory abnormalities frequently reported in this population. We examined line orientation sensitivity along oblique and vertical axes in a sample of 26 boys with ASD (IQ > 68) and 38 typically developing (TD) boys aged 7-15 years, as well as in a subsample of carefully IQ-matched ASD and TD participants. Children were asked to detect the direction of tilt of a high-contrast black-and-white grating relative to vertical (90 degrees ) or oblique (45 degrees ) templates. The oblique effect was reduced in children with ASD as compared to TD participants, irrespective of their IQ. This reduction was due to poor orientation sensitivity along the vertical axis in ASD children, while their ability to discriminate line orientation along the oblique axis was unaffected. We speculate that this deficit in sensitivity to vertical orientation may reflect disrupted mechanisms of early experience-dependent learning that takes place during the critical period for orientation selectivity.
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19. Wang Y, Sokhadze EM, El-Baz AS, Li X, Sears L, Casanova MF, Tasman A. {{Relative Power of Specific EEG Bands and Their Ratios during Neurofeedback Training in Children with Autism Spectrum Disorder}}. {Front Hum Neurosci};2015;9:723.
Neurofeedback is a mode of treatment that is potentially useful for improving self-regulation skills in persons with autism spectrum disorder. We proposed that operant conditioning of EEG in neurofeedback mode can be accompanied by changes in the relative power of EEG bands. However, the details on the change of the relative power of EEG bands during neurofeedback training course in autism are not yet well explored. In this study, we analyzed the EEG recordings of children diagnosed with autism and enrolled in a prefrontal neurofeedback treatment course. The protocol used in this training was aimed at increasing the ability to focus attention, and the procedure represented the wide band EEG amplitude suppression training along with upregulation of the relative power of gamma activity. Quantitative EEG analysis was completed for each session of neurofeedback using wavelet transform to determine the relative power of gamma and theta/beta ratio, and further to detect the statistical changes within and between sessions. We found a linear decrease of theta/beta ratio and a liner increase of relative power of gamma activity over 18 weekly sessions of neurofeedback in 18 high functioning children with autism. The study indicates that neurofeedback is an effective method for altering EEG characteristics associated with the autism spectrum disorder. Also, it provides information about specific changes of EEG activities and details the correlation between changes of EEG and neurofeedback indexes during the course of neurofeedback. This pilot study contributes to the development of more effective approaches to EEG data analysis during prefrontal neurofeedback training in autism.
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20. Xie Z, Jones A, Deeney JT, Hur SK, Bankaitis VA. {{Inborn Errors of Long-Chain Fatty Acid beta-Oxidation Link Neural Stem Cell Self-Renewal to Autism}}. {Cell Rep};2016 (Jan 27)
Inborn errors of metabolism (IEMs) occur with high incidence in human populations. Especially prevalent among these are inborn deficiencies in fatty acid beta-oxidation (FAO), which are clinically associated with developmental neuropsychiatric disorders, including autism. We now report that neural stem cell (NSC)-autonomous insufficiencies in the activity of TMLHE (an autism risk factor that supports long-chain FAO by catalyzing carnitine biosynthesis), of CPT1A (an enzyme required for long-chain FAO transport into mitochondria), or of fatty acid mobilization from lipid droplets reduced NSC pools in the mouse embryonic neocortex. Lineage tracing experiments demonstrated that reduced flux through the FAO pathway potentiated NSC symmetric differentiating divisions at the expense of self-renewing stem cell division modes. The collective data reveal a key role for FAO in controlling NSC-to-IPC transition in the mammalian embryonic brain and suggest NSC self renewal as a cellular mechanism underlying the association between IEMs and autism.
