1. Blain SD, Peterman JS, Park S. {{Subtle cues missed: Impaired perception of emotion from gait in relation to schizotypy and autism spectrum traits}}. {Schizophr Res};2016 (Nov 9)
BACKGROUND: Deficits in emotion perception are central features of schizophrenia and autism spectrum disorders. These conditions are also associated with disrupted embodiment and impaired processing of biological motion. However, medication and the impact of illness over time complicate the study of socioemotional processing in such neuropsychiatric populations. Thus, the current study investigated the perception of emotional cues from gait, in relation to autistic and schizotypal traits in the general population. METHODS: Self-report measures of schizotypy and autism-spectrum were obtained from 107 healthy participants. An affective biological motion task that required participants to discriminate emotions from the gait patterns of polygonal avatars at varying levels of emotional intensity was used to assess accuracy of emotion perception. RESULTS: Emotion perception accuracy depended on the stimulus intensity. Those with elevated autism spectrum quotient and those with elevated positive syndrome (cognitive-perceptual) schizotypy showed deficits in emotion perception from gait. CONCLUSIONS: Perception of emotion from low-intensity gait cues is compromised in those who may carry liability for autism or psychosis. Emotion perception deficits may be a core feature of autism and schizophrenia, rather than simply being a downstream consequence of illness duration or medication.
Lien vers le texte intégral (Open Access ou abonnement)
2. Chenausky K, Norton A, Tager-Flusberg H, Schlaug G. {{Auditory-Motor Mapping Training: Comparing the Effects of a Novel Speech Treatment to a Control Treatment for Minimally Verbal Children with Autism}}. {PLoS One};2016;11(11):e0164930.
This study compared Auditory-Motor Mapping Training (AMMT), an intonation-based treatment for facilitating spoken language in minimally verbal children with autism spectrum disorder (ASD), to a matched control treatment, Speech Repetition Therapy (SRT). 23 minimally verbal children with ASD (20 male, mean age 6;5) received at least 25 sessions of AMMT. Seven (all male) were matched on age and verbal ability to seven participants (five male) who received SRT. Outcome measures were Percent Syllables Approximated, Percent Consonants Correct (of 86), and Percent Vowels Correct (of 61) produced on two sets of 15 bisyllabic stimuli. All subjects were assessed on these measures several times at baseline and after 10, 15, 20, and 25 sessions. The post-25 session assessment timepoint, common to all participants, was compared to Best Baseline performance. Overall, after 25 sessions, AMMT participants increased by 19.4% Syllables Approximated, 13.8% Consonants Correct, and19.1% Vowels Correct, compared to Best Baseline. In the matched AMMT-SRT group, after 25 sessions, AMMT participants produced 29.0% more Syllables Approximated (SRT 3.6%);17.9% more Consonants Correct (SRT 0.5); and 17.6% more Vowels Correct (SRT 0.8%). Chi-square tests showed that significantly more AMMT than SRT participants in both the overall and matched groups improved significantly in number of Syllables Approximated per stimulus and number of Consonants Correct per stimulus. Pre-treatment ability to imitate phonemes, but not chronological age or baseline performance on outcome measures, was significantly correlated with amount of improvement after 25 sessions. Intonation-based therapy may offer a promising new interventional approach for teaching spoken language to minimally verbal children with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
3. Conceicao IC, Rama MM, Oliveira B, Cafe C, Almeida J, Mouga S, Duque F, Oliveira G, Vicente AM. {{Definition of a putative pathological region in PARK2 associated with autism spectrum disorder through insilico analysis of its functional structure}}. {Psychiatr Genet};2016 (Nov 7)
OBJECTIVE: The PARK2 gene encodes Parkin, a component of a multiprotein E3 ubiquitin ligase complex that targets substrate proteins for proteasomal degradation. PARK2 mutations are frequently associated with Parkinson’s disease, but structural alterations have also been described in patients with neurodevelopmental disorders (NDD), suggesting a pathological effect ubiquitous to neurodevelopmental and neurodegenerative brain processes. The present study aimed to define the critical regions for NDD within PARK2. MATERIALS AND METHODS: To clarify PARK2 involvement in NDDs, we examined the frequency and location of copy number variants (CNVs) identified in patients from our sample and reported in the literature and relevant databases, and compared with control populations. RESULTS: Overall, the frequency of PARK2 CNVs was higher in controls than in NDD cases. However, closer inspection of the CNV location in PARK2 showed that the frequency of CNVs targeting the Parkin C-terminal, corresponding to the ring-between-ring (RBR) domain responsible for Parkin activity, is significantly higher in NDD cases than in controls. In contrast, CNVs targeting the N-terminal of Parkin, including domains that regulate ubiquitination activity, are very common both in cases and in controls. CONCLUSION: Although PARK2 may be a pathological factor for NDDs, likely not all variants are pathogenic, and a conclusive assessment of PARK2 variant pathogenicity requires an accurate analysis of their location within the coding region and encoded functional domains.
Lien vers le texte intégral (Open Access ou abonnement)
4. El-Ansary A, Hassan WM, Qasem H, Das UN. {{Identification of Biomarkers of Impaired Sensory Profiles among Autistic Patients}}. {PLoS One};2016;11(11):e0164153.
BACKGROUND: Autism is a neurodevelopmental disorder that displays significant heterogeneity. Comparison of subgroups within autism, and analyses of selected biomarkers as measure of the variation of the severity of autistic features such as cognitive dysfunction, social interaction impairment, and sensory abnormalities might help in understanding the pathophysiology of autism. METHODS AND PARTICIPANTS: In this study, two sets of biomarkers were selected. The first included 7, while the second included 6 biomarkers. For set 1, data were collected from 35 autistic and 38 healthy control participants, while for set 2, data were collected from 29 out of the same 35 autistic and 16 additional healthy subjects. These markers were subjected to a principal components analysis using either covariance or correlation matrices. Moreover, libraries composed of participants categorized into units were constructed. The biomarkers used include, PE (phosphatidyl ethanolamine), PS (phosphatidyl serine), PC (phosphatidyl choline), MAP2K1 (Dual specificity mitogen-activated protein kinase kinase 1), IL-10 (interleukin-10), IL-12, NFkappaB (nuclear factor-kappaappa B); PGE2 (prostaglandin E2), PGE2-EP2, mPGES-1 (microsomal prostaglandin synthase E-1), cPLA2 (cytosolic phospholipase A2), 8-isoprostane, and COX-2 (cyclo-oxygenase-2). RESULTS: While none of the studied markers correlated with CARS and SRS as measure of cognitive and social impairments, six markers significantly correlated with sensory profiles of autistic patients. Multiple regression analysis identifies a combination of PGES, mPGES-1, and PE as best predictors of the degree of sensory profile impairment. Library identification resulted in 100% correct assignments of both autistic and control participants based on either set 1 or 2 biomarkers together with a satisfactory rate of assignments in case of sensory profile impairment using different sets of biomarkers. CONCLUSION: The two selected sets of biomarkers were effective to separate autistic from healthy control subjects, demonstarting the possibility to accurately predict the severity of autism using the selected biomarkers. The effectiveness of the identified libraries lied in the fact that they were helpful in correctly assigning the study population as control or autistic patients and in classifying autistic patients with different degree of sensory profile impairment.
Lien vers le texte intégral (Open Access ou abonnement)
5. Faja S, Clarkson T, Webb SJ. {{Neural and behavioral suppression of interfering flankers by children with and without autism spectrum disorder}}. {Neuropsychologia};2016 (Nov 4)
Electrophysiological responses, accuracy and reaction time were recorded while 7-11-year-olds with typical development (TYP; N=30) and autism spectrum disorder (ASD; N=19) inhibited conflicting information. Relative to the TYP group, children with ASD had larger decrements in accuracy for incongruent trials and were slower. In terms of neural responses, N2 mean amplitude was greater overall for children with ASD relative to TYP children. N2 neural responses related to a behavioral measure of inhibition and cognitive flexibility for TYP children, whereas it related to suppression of interfering information and maintenance of accurate responding for the children with ASD. Results suggest children with ASD recruit more neural resources and perform worse when inhibiting conflicting information relative to TYP peers.
Lien vers le texte intégral (Open Access ou abonnement)
6. Forgeot d’Arc B, Vinckier F, Lebreton M, Soulieres I, Mottron L, Pessiglione M. {{Mimetic desire in autism spectrum disorder}}. {Mol Autism};2016;7:45.
Mimetic desire (MD), the spontaneous propensity to pursue goals that others pursue, is a case of social influence that is believed to shape preferences. Autism spectrum disorder (ASD) is defined by both atypical interests and altered social interaction. We investigated whether MD is lower in adults with ASD compared to typically developed adults and whether MD correlates with social anhedonia and social judgment, two aspects of atypical social functioning in autism. Contrary to our hypotheses, MD was similarly present in both ASD and control groups. Anhedonia and social judgment differed between the ASD and control groups but did not correlate with MD. These results extend previous findings by suggesting that basic mechanisms of social influence are preserved in autism. The finding of intact MD in ASD stands against the intuitive idea that atypical interests stem from reduced social influence and indirectly favors the possibility that special interests might be selected for their intrinsic properties.
Lien vers le texte intégral (Open Access ou abonnement)
7. Fusar-Poli L, Brondino N, Orsi P, Provenzani U, De Micheli A, Ucelli di Nemi S, Barale F, Politi P. {{Long-term outcome of a cohort of adults with autism and intellectual disability: A pilot prospective study}}. {Res Dev Disabil};2016 (Nov 9)
BACKGROUND: Autism spectrum disorders (ASD) are a long-life condition frequently associated with intellectual disability. To date, long-term outcome has been investigated mostly in ASD people with average or above-average intelligence and there is a paucity of data about autistic adults with comorbid intellectual disability. AIMS: The aim of the present study is to assess long-term variations of adaptive abilities in a sample of autistic adults with intellectual disability and severe language impairment. METHODS AND PROCEDURES: 22 adults (17 males and 5 females) affected by autism and intellectual disability were recruited and evaluated after their admission in an Italian farm-community. Vineland Adaptive Behavior Scales (VABS) were used as outcome measure for adaptive abilities. After ten years the measurement was repeated in order to study the evolution of patients’ skills along time. Additionally, sociodemographic variables, changes in medication and comorbidities were recorded. OUTCOMES AND RESULTS: No statistically significant improvement neither deterioration was found according to VABS raw scores in the entire sample. On the contrary, a significant improvement was evident in standard scores for the Adaptive Behavior Composite Scale and for each domain. CONCLUSIONS AND IMPLICATIONS: In general, our patients remained stable in adaptive abilities. However, our results are not generalisable to the entire autistic population, but only to inpatients with autism and comorbid intellectual disability. New measures should be developed in order to better assess changes in this particular population.
Lien vers le texte intégral (Open Access ou abonnement)
8. Gilbert J, Man HY. {{The X-Linked Autism Protein KIAA2022/KIDLIA Regulates Neurite Outgrowth via N-Cadherin and delta-Catenin Signaling}}. {eNeuro};2016 (Sep-Oct);3(5)
Our previous work showed that loss of the KIAA2022 gene protein results in intellectual disability with language impairment and autistic behavior (KIDLIA, also referred to as XPN). However, the cellular and molecular alterations resulting from a loss of function of KIDLIA and its role in autism with severe intellectual disability remain unknown. Here, we show that KIDLIA plays a key role in neuron migration and morphogenesis. We found that KIDLIA is distributed exclusively in the nucleus. In the developing rat brain, it is expressed only in the cortical plate and subplate region but not in the intermediate or ventricular zone. Using in utero electroporation, we found that short hairpin RNA (shRNA)-mediated knockdown of KIDLIA leads to altered neuron migration and a reduction in dendritic growth and disorganized apical dendrite projections in layer II/III mouse cortical neurons. Consistent with this, in cultured rat neurons, a loss of KIDLIA expression also leads to suppression of dendritic growth and branching. At the molecular level, we found that KIDLIA suppression leads to an increase in cell-surface N-cadherin and an elevated association of N-cadherin with delta-catenin, resulting in depletion of free delta-catenin in the cytosolic compartment. The reduced availability of cytosolic delta-catenin leads to elevated RhoA activity and reduced actin dynamics at the dendritic growth cone. Furthermore, in neurons with KIDLIA knockdown, overexpression of delta-catenin or inhibition of RhoA rescues actin dynamics, dendritic growth, and branching. These findings provide the first evidence on the role of the novel protein KIDLIA in neurodevelopment and autism with severe intellectual disability.
Lien vers le texte intégral (Open Access ou abonnement)
9. Lin HY, Tseng WI, Lai MC, Chang YT, Gau SS. {{Shared atypical brain anatomy and intrinsic functional architecture in male youth with autism spectrum disorder and their unaffected brothers}}. {Psychol Med};2016 (Nov 9):1-16.
BACKGROUND: Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder, yet the search for definite genetic etiologies remains elusive. Delineating ASD endophenotypes can boost the statistical power to identify the genetic etiologies and pathophysiology of ASD. We aimed to test for endophenotypes of neuroanatomy and associated intrinsic functional connectivity (iFC) via contrasting male youth with ASD, their unaffected brothers and typically developing (TD) males. METHOD: The 94 participants (aged 9-19 years) – 20 male youth with ASD, 20 unaffected brothers and 54 TD males – received clinical assessments, and undertook structural and resting-state functional magnetic resonance imaging scans. Voxel-based morphometry was performed to obtain regional gray and white matter volumes. A seed-based approach, with seeds defined by the regions demonstrating atypical neuroanatomy shared by youth with ASD and unaffected brothers, was implemented to derive iFC. General linear models were used to compare brain structures and iFC among the three groups. Assessment of familiality was investigated by permutation tests for variance of the within-family pair difference. RESULTS: We found that atypical gray matter volume in the mid-cingulate cortex was shared between male youth with ASD and their unaffected brothers as compared with TD males. Moreover, reduced iFC between the mid-cingulate cortex and the right inferior frontal gyrus, and increased iFC between the mid-cingulate cortex and bilateral middle occipital gyrus were the shared features of male ASD youth and unaffected brothers. CONCLUSIONS: Atypical neuroanatomy and iFC surrounding the mid-cingulate cortex may be a potential endophenotypic marker for ASD in males.
Lien vers le texte intégral (Open Access ou abonnement)
10. Lucarelli J, Pappas D, Welchons L, Augustyn M. {{Autism Spectrum Disorder and Avoidant/Restrictive Food Intake Disorder}}. {J Dev Behav Pediatr};2016 (Nov 04)
CASE: Kendra is a 4-year-old girl with autism spectrum disorder (ASD) who presents for follow-up of feeding problems to her pediatric clinician. She is an only child in a family where both parents are scientists. Feeding concerns date to infancy, when she was diagnosed with Gastroesophageal Reflux Disease (GERD) associated with persistent bottle refusal and the acceptance of few pureed foods. At 13 months, milk and peanut allergies were diagnosed. Following a feeding clinic evaluation at 24 months, she was prescribed a soy milk supplement and an H2 blocker. There was no concern for oral-motor dysfunction. She was also referred to early intervention for feeding therapy. However, her parents terminated participation after 6 months because she became anxious and had tantrum prior to treatment groups.She was seen in another feeding program at 3 years; zinc, folate, thyroid, and a celiac panel were normal, and an endoscopy was negative for eosinophilic esophagitis. She began individual feeding therapy, where concerns for rigidity, difficulty transitioning, and limited peer interactions led to a neuropsychological evaluation. Kendra was diagnosed with an ASD and avoidant/restrictive food intake disorder (ARFID). Her cognitive skills were average, and expressive and receptive language skills were low average.Her diet consisted of French fries, Ritz crackers, pretzels, and 32 ounces of soy formula daily. She had stopped accepting Cheerios and saltines 2 months prior. She controlled other aspects of feeding, insisting on a specific parking spot at a fast food restaurant and drinking from a particular sippy cup. Her parents accepted these demands with concern about her caloric intake, which they tracked daily.Following diagnosis with ARFID, she resumed feeding therapy using a systematic desensitization approach with rewards. At the first session, she kissed and licked 2 new foods without gagging. Her mother appeared receptive to recommendations that included continuing the « food game » at home, replacing 1 ounce of soy formula by offering water each day, limiting between-meal grazing, and refusing specific feeding demands.Currently, her parents plan to discontinue feeding therapy with concerns that the treatment was « too harsh. » Her father produces logs of her caloric and micronutrient intake as evidence that she did not replace missed formula with other foods and reports that she subsequently became more difficult to manage behaviorally. Her father now demands to see randomized controlled trials of feeding therapy approaches. Her weight is stable, but she has now limited her pretzel intake to a specific brand. How would you approach her continued care?
Lien vers le texte intégral (Open Access ou abonnement)
11. Posar A, Visconti P. {{Autism in 2016: the need for answers}}. {J Pediatr (Rio J)};2016 (Nov 9)
OBJECTIVE: Autism spectrum disorders are lifelong and often devastating conditions that severely affect social functioning and self-sufficiency. The etiopathogenesis is presumably multifactorial, resulting from a very complex interaction between genetic and environmental factors. The dramatic increase in autism spectrum disorder prevalence observed during the last decades has led to placing more emphasis on the role of environmental factors in the etiopathogenesis. The objective of this narrative biomedical review was to summarize and discuss the results of the most recent and relevant studies about the environmental factors hypothetically involved in autism spectrum disorder etiopathogenesis. SOURCES: A search was performed in PubMed (United States National Library of Medicine) about the environmental factors hypothetically involved in the non-syndromic autism spectrum disorder etiopathogenesis, including: air pollutants, pesticides and other endocrine-disrupting chemicals, electromagnetic pollution, vaccinations, and diet modifications. SUMMARY OF THE FINDINGS: While the association between air pollutants, pesticides and other endocrine-disrupting chemicals, and risk for autism spectrum disorder is receiving increasing confirmation, the hypothesis of a real causal relation between them needs further data. The possible pathogenic mechanisms by which environmental factors can lead to autism spectrum disorder in genetically predisposed individuals were summarized, giving particular emphasis to the increasingly important role of epigenetics. CONCLUSIONS: Future research should investigate whether there is a significant difference in the prevalence of autism spectrum disorder among nations with high and low levels of the various types of pollution. A very important goal of the research concerning the interactions between genetic and environmental factors in autism spectrum disorder etiopathogenesis is the identification of vulnerable populations, also in view of proper prevention.
Lien vers le texte intégral (Open Access ou abonnement)
12. Soke GN, Rosenberg SA, Hamman RF, Fingerlin T, Rosenberg CR, Carpenter L, Lee LC, Giarelli E, Wiggins LD, Durkin MS, Reynolds A, DiGuiseppi C. {{Factors Associated with Self-Injurious Behaviors in Children with Autism Spectrum Disorder: Findings from Two Large National Samples}}. {J Autism Dev Disord};2016 (Nov 9)
In this study, we explored potential associations among self-injurious behaviors (SIB) and a diverse group of protective and risk factors in children with autism spectrum disorder from two databases: Autism and Developmental Disabilities Monitoring (ADDM) Network and the Autism Speaks-Autism Treatment Network (AS-ATN). The presence of SIB was determined from children’s records in ADDM and a parent questionnaire in AS-ATN. We used multiple imputation to account for missing data and a non-linear mixed model with site as a random effect to test for associations. Despite differences between the two databases, similar associations were found; SIB were associated with developmental, behavioral, and somatic factors. Implications of these findings are discussed in relation to possible etiology, future longitudinal studies, and clinical practice.
Lien vers le texte intégral (Open Access ou abonnement)
13. Veenstra-VanderWeele J, Cook EH, King BH, Zarevics P, Cherubini M, Walton-Bowen K, Bear MF, Wang PP, Carpenter RL. {{Arbaclofen in Children and Adolescents with Autism Spectrum Disorder: A Randomized, Controlled, Phase 2 Trial}}. {Neuropsychopharmacology};2016 (Nov 09)
Several lines of emerging data point to an imbalance between neuronal excitation and inhibition in at least a subgroup of individuals with autism spectrum disorder (ASD), including in those with fragile X syndrome (FXS), one of the most common genetic syndromes within ASD. In animal models of FXS and of ASD, GABA-B agonists have improved both brain and behavioral phenotypes, including social behavior. A phase 2 randomized, placebo-controlled, crossover trial found that the GABA-B agonist arbaclofen improved social avoidance symptoms in FXS. A pilot open-label trial of arbaclofen suggested similar benefits in ASD. We therefore evaluated arbaclofen in a randomized, placebo-controlled, phase 2 study of 150 participants, aged 5-21 years, with ASD. No difference from placebo was detected on the primary outcome measure, the parent-rated Aberrant Behavior Checklist Social Withdrawal/Lethargy subscale. However, a specified secondary analysis found improvement on the clinician-rated Clinical Global Impression of Severity. An exploratory post hoc analysis of participants with a consistent rater across the trial revealed greater improvement in the Vineland Adaptive Behavior Scales II socialization domain in participants receiving arbaclofen. Affect lability (11%) and sedation (9%) were the most common adverse events. In this exploratory study, secondary analyses suggest that arbaclofen may have the potential to improve symptoms in some children with ASD, but further study will be needed to replicate and extend these initial findings.Neuropsychopharmacology advance online publication, 9 November 2016; doi:10.1038/npp.2016.237.
Lien vers le texte intégral (Open Access ou abonnement)
14. Wang T, Guo H, Xiong B, Stessman HA, Wu H, Coe BP, Turner TN, Liu Y, Zhao W, Hoekzema K, Vives L, Xia L, Tang M, Ou J, Chen B, Shen Y, Xun G, Long M, Lin J, Kronenberg ZN, Peng Y, Bai T, Li H, Ke X, Hu Z, Zhao J, Zou X, Xia K, Eichler EE. {{De novo genic mutations among a Chinese autism spectrum disorder cohort}}. {Nat Commun};2016 (Nov 08);7:13316.
Recurrent de novo (DN) and likely gene-disruptive (LGD) mutations contribute significantly to autism spectrum disorders (ASDs) but have been primarily investigated in European cohorts. Here, we sequence 189 risk genes in 1,543 Chinese ASD probands (1,045 from trios). We report an 11-fold increase in the odds of DN LGD mutations compared with expectation under an exome-wide neutral model of mutation. In aggregate, approximately 4% of ASD patients carry a DN mutation in one of just 29 autism risk genes. The most prevalent gene for recurrent DN mutations is SCN2A (1.1% of patients) followed by CHD8, DSCAM, MECP2, POGZ, WDFY3 and ASH1L. We identify novel DN LGD recurrences (GIGYF2, MYT1L, CUL3, DOCK8 and ZNF292) and DN mutations in previous ASD candidates (ARHGAP32, NCOR1, PHIP, STXBP1, CDKL5 and SHANK1). Phenotypic follow-up confirms potential subtypes and highlights how large global cohorts might be leveraged to prove the pathogenic significance of individually rare mutations.
Lien vers le texte intégral (Open Access ou abonnement)
15. Ward CS, Huang TW, Herrera JA, Samaco RC, Pitcher MR, Herron A, Skinner SA, Kaufmann WE, Glaze DG, Percy AK, Neul JL. {{Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome}}. {PLoS One};2016;11(11):e0165550.
Rett Syndrome (RTT) is a neurodevelopmental disorder characterized by loss of acquired skills during development, autonomic dysfunction, and an increased risk for premature lethality. Clinical experience identified a subset of individuals with RTT that present with urological dysfunction including individuals with frequent urinary tract infections, kidney stones, and urine retention requiring frequent catheterization for bladder voiding. To determine if urologic dysfunction is a feature of RTT, we queried the Rett Syndrome Natural History Study, a repository of clinical data from over 1000 individuals with RTT and found multiple instances of urological dysfunction. We then evaluated urological function in a mouse model of RTT and found an abnormal pattern of micturition. Both male and female mice possessing Mecp2 mutations show a decrease in urine output per micturition event. Furthermore, we identified signs of kidney failure secondary to urethral obstruction. Although genetic strain background significantly affects both survival and penetrance of the urethral obstruction phenotype, survival and penetrance of urethral obstruction do not directly correlate. We have identified an additional phenotype caused by loss of MeCP2, urological dysfunction. Furthermore, we urge caution in the interpretation of survival data as an endpoint in preclinical studies, especially where causes of mortality are poorly characterized.
Lien vers le texte intégral (Open Access ou abonnement)
16. Witters P, Debbold E, Crivelly K, Vande Kerckhove K, Corthouts K, Debbold B, Andersson H, Vannieuwenborg L, Geuens S, Baumgartner M, Kozicz T, Settles L, Morava E. {{Autism in patients with propionic acidemia}}. {Mol Genet Metab};2016 (Oct 31)
Certain inborn errors of metabolism have been suggested to increase the risk of autistic behavior. In an animal model, propionic acid ingestion triggered abnormal behavior resembling autism. So far only a few cases were reported with propionic acidemia and autistic features. From a series of twelve consecutively diagnosed cases with propionic acidemia, we report on eight patients with autistic features. The patients were followed 2-4 times a year and underwent regular clinical, dietary and laboratory investigations. Psychological evaluation was performed every second to fourth year. All patients were compliant with the standard diet and carnitine supplementation. None of the patients had frequent metabolic decompensations. From the metabolic factors known to impact neuropsychological outcome we detected chronically decreased valine levels and altered valine to leucine ratios in five out of the eight patients. Recurrent lactic acid elevations were present in six out of the eight patients. Five of the eight patients were diagnosed with Autism Spectrum Disorder, four of them had pathogenic variants in PCCB. Disorder according to DSM-IV and/or DSM-5 criteria. One of the patients diagnosed with propionic acidemia by newborn screening had the most significant behavioral features and another was diagnosed with Autism Spectrum Disorder prior to propionic acidemia. We hypothesize that chronic suboptimal intracellular metabolic balance may be responsible for the increased risk for autistic features in propionic acidemia. We propose that patients diagnosed with propionic acidemia should be screened for Autism Spectrum Disorder.
Lien vers le texte intégral (Open Access ou abonnement)
17. Zhou P, Crain S, Gao L, Jia M. {{The Use of Linguistic Cues in Sentence Comprehension by Mandarin-Speaking Children with High-Functioning Autism}}. {J Autism Dev Disord};2016 (Nov 9)
Two studies were conducted to investigate how high-functioning children with autism use different linguistic cues in sentence comprehension. Two types of linguistic cues were investigated: word order and morphosyntactic cues. The results show that children with autism can use both types of cues in sentence comprehension. However, compared to age-matched typically developing peers, children with autism relied significantly more on word order cues and exhibited significantly more difficulties in interpreting sentences in which there was a conflict between the morphosyntactic cue and the word order cue. We attribute the difficulties exhibited by children with autism to their deficits in executive function. We then discuss the implications of the findings for understanding the nature of the sentence processing mechanism in autism.
