Pubmed du 17/02/20

lundi 17 février 2020

1. Cukier HN, Griswold AJ, Hofmann NK, Gomez L, Whitehead PL, Abramson RK, Gilbert JR, Cuccaro ML, Dykxhoorn DM, Pericak-Vance MA. Three Brothers With Autism Carry a Stop-Gain Mutation in the HPA-Axis Gene NR3C2. Autism Res ;2020 (Feb 17)

Whole exome sequencing and copy-number variant analysis was performed on a family with three brothers diagnosed with autism. Each of the siblings shares an alteration in the nuclear receptor subfamily 3 group C member 2 (NR3C2) gene that is predicted to result in a stop-gain mutation (p.Q919X) in the mineralocorticoid receptor (MR) protein. This variant was maternally inherited and provides further evidence for a connection between the NR3C2 and autism. Interestingly, the NR3C2 gene encodes the MR protein, a steroid hormone-regulated transcription factor that acts in the hypothalamic-pituitary-adrenal axis and has been connected to stress and anxiety, both of which are features often seen in individuals with autism. LAY SUMMARY : Given the complexity of the genetics underlying autism, each gene contributes to risk in a relatively small number of individuals, typically less than 1% of all autism cases. Whole exome sequencing of three brothers with autism identified a rare variant in the nuclear receptor subfamily 3 group C member 2 gene that is predicted to strongly interfere with its normal function. This gene encodes the mineralocorticoid receptor protein, which plays a role in how the body responds to stress and anxiety, features that are often elevated in people diagnosed with autism. This study adds further support to the relevance of this gene as a risk factor for autism. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc.

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2. De Crescenzo F, D’Alo GL, Morgano GP, Minozzi S, Mitrova Z, Saulle R, Cruciani F, Fulceri F, Davoli M, Scattoni ML, Nardocci F, Schunemann HJ, Amato L. Impact of polyunsaturated fatty acids on patient-important outcomes in children and adolescents with autism spectrum disorder : a systematic review. Health Qual Life Outcomes ;2020 (Feb 17) ;18(1):28.

BACKGROUND : Recent randomized controlled trials (RCTs) claimed PUFAs to be effective for autism spectrum disorder (ASD) but international guidelines have not considered yet this body of evidence. Our aim was to assess the effectiveness of PUFAs in children and adolescents with ASD, for the Italian national guidelines on the management of ASD in children and adolescents. METHODS : We performed a systematic review and meta-analysis of RCTs comparing PUFAs versus placebo or a healthy diet for the treatment of ASD in children and adolescents. The outcomes considered were deemed by the guideline panel to be highly relevant to children and adolescents with ASD and to their caregivers. The outcomes included hyperactivity, quality of sleep, self-harm, aggression, irritability, anxiety, attention, adaptive functioning, social interaction, restricted and repetitive interests and behavior, communication, hyperactivity and disruptive behaviors coexistent with core symptoms. The risk of bias of the included studies was assessed with the Cochrane tool, and the rating of the confidence in the effect estimates according to the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. RESULTS : We included 9 studies with 405 participants. The strength of evidence ranged from low to very low. Six studies included preschoolers and school-age children, three studies included both children and adolescents. The majority of participants were males (83.8%), with a mean age of 6.7 years. PUFAs were superior compared to placebo in reducing anxiety in individuals with ASD (SMD -1.01, 95% CI - 1.86 to - 0.17 ; very low certainty of evidence). Moreover, PUFAs worsened quality of sleep compared to a healthy diet (SMD 1.11, 95% CI 0.21 to 2.00 ; very low certainty of evidence). PUFAs were not better than placebo in reducing aggression, hyperactivity, adaptive functioning, irritability, restricted and repetitive interests and behaviors and communication. Effects on some critical outcomes such as sleep, self-harm and disruptive behavior are currently unknown. The main limitations were the small number of participants included in the RCTs and the dosage which varied greatly (from 200 mg/day to 1540 mg/day), making it difficult to address causal inference. CONCLUSIONS : PUFAs did not show evidence of effect in children and adolescents with ASD and the certainty of evidence as measured with the GRADE was low to very low. Further research is needed on this topic because the available evidence is inconclusive.

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3. Jaureguiberry MS, Venturino A. Nutritional and environmental contributions to Autism Spectrum Disorders : Focus on nutrigenomics as complementary therapy. Int J Vitam Nutr Res ;2020 (Feb 17):1-19.

The prevalence of autism spectrum disorders (ASD) has risen sharply in the last 30 years, posing a major public health concern and a big emotional and financial challenge for families. While the underlying causes remain to be fully elucidated, evidence shows moderate genetic heritability contribution, but heavy environmental influence. Over the last decades, modern lifestyle has deeply changed our eating, rest, and exercise habits, while exposure to air, water, and food chemical pollution has increased due to indiscriminate use of pesticides, food additives, adjuvants, and antibiotics. The result is a drastic change in the quality of our energy source input, and an overload for antioxidant and detoxification pathways that compromises normal metabolism and homeostasis. Current research shows high prevalence of food selectivity and/or food allergy among children with autism, resulting in essential micronutrient deficits that may trigger or aggravate physical and cognitive symptoms. Nutrigenomics is an emerging discipline that focuses on genotype-micronutrient interaction, and a useful approach to tailor low risk, personalized interventions through diet and micronutrient supplementation. Here, we review available literature addressing the role of micronutrients in the symptomatology of ASD, the metabolic pathways involved, and their therapeutic relevance. Personalized and supervised supplementation according to individual needs is suggested as a complement of traditional therapies to improve outcome both for children with autism and their families.

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4. Rodriguez CM, Wright SE, Kearse MG, Haenfler JM, Flores BN, Liu Y, Ifrim MF, Glineburg MR, Krans A, Jafar-Nejad P, Sutton MA, Bassell GJ, Parent JM, Rigo F, Barmada SJ, Todd PK. A native function for RAN translation and CGG repeats in regulating fragile X protein synthesis. Nat Neurosci ;2020 (Feb 17)

Repeat-associated non-AUG-initiated translation of expanded CGG repeats (CGG RAN) from the FMR1 5’-leader produces toxic proteins that contribute to neurodegeneration in fragile X-associated tremor/ataxia syndrome. Here we describe how unexpanded CGG repeats and their translation play conserved roles in regulating fragile X protein (FMRP) synthesis. In neurons, CGG RAN acts as an inhibitory upstream open reading frame to suppress basal FMRP production. Activation of mGluR5 receptors enhances FMRP synthesis. This enhancement requires both the CGG repeat and CGG RAN initiation sites. Using non-cleaving antisense oligonucleotides (ASOs), we selectively blocked CGG RAN. This ASO blockade enhanced endogenous FMRP expression in human neurons. In human and rodent neurons, CGG RAN-blocking ASOs suppressed repeat toxicity and prolonged survival. These findings delineate a native function for CGG repeats and RAN translation in regulating basal and activity-dependent FMRP synthesis, and they demonstrate the therapeutic potential of modulating CGG RAN translation in fragile X-associated disorders.

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5. Westerveld MF, Paynter J, Wicks R. Shared Book Reading Behaviors of Parents and Their Verbal Preschoolers on the Autism Spectrum. J Autism Dev Disord ;2020 (Feb 17)

Preschoolers on the autism spectrum are at risk of persistent language and literacy difficulties thus research into shared book reading (SBR) in this group is important. We observed 47 parents and their verbal preschoolers on the spectrum sharing two unfamiliar picture books and coded the interactions for parent and child behaviors. Parents were able to engage their child in SBR and demonstrated a range of print- and meaning-related SBR behaviors with no evidence of a focus on print. Multiple regressions showed direct effects of parents’ explicit teaching of story structure and use of questions on their children’s verbal participation. Further research is needed to unpack the potential transactional relationships between parent and child SBR behaviors to inform early intervention.

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6. Zampella CJ, Csumitta KD, Simon E, Bennetto L. Interactional Synchrony and Its Association with Social and Communication Ability in Children With and Without Autism Spectrum Disorder. J Autism Dev Disord ;2020 (Feb 17)

Social partners tend to coordinate their behaviors in time. This "interactional synchrony" is associated with a host of positive social outcomes, making it ripe for study in autism spectrum disorder (ASD). Twenty children with ASD and 17 typically developing (TD) children participated in conversations with familiar and unfamiliar adults. Conversations were rated for movement synchrony and verbal synchrony, and mothers completed measures regarding children’s everyday social and communication skills. Children with ASD exhibited less interactional synchrony, with familiar and unfamiliar partners, than TD peers. Beyond group-level differences, interactional synchrony negatively correlated with autism symptom severity, and predicted dimensional scores on established social and communication measures. Results suggest that disrupted interactional synchrony may be associated with impaired social functioning in ASD.

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