1. Ahmed SA, Elhefnawy AM, Azouz HG, Roshdy YS, Ashry MH, Ibrahim AE, Meheissen MA. {{Study of the gut Microbiome Profile in Children with Autism Spectrum Disorder: a Single Tertiary Hospital Experience}}. {J Mol Neurosci};2020 (Feb 15)
The role of gut microbiome was recently raised in the pathogenesis of neurodevelopmental disorders including autism spectrum disorder (ASD). The aim of this study was to elucidate changes in gut microbiome in Egyptian autistic children and its possible correlation with the severity of autism and gastrointestinal (GI) symptoms. The gut bacterial microbiome of 41 ASD children, 45 siblings, and 45 healthy controls were analyzed using quantitative SYBR Green real-time PCR technique targeting 16S rRNA of selected bacteria. The gut microbiome of ASD children and their siblings contained a higher relative abundance of Bacteroides as well as Ruminococcus than controls. Prevotella/Bacteroides (P/B) ratio and Firmicutes/Bacteroidetes (F/B) were significantly lower in both ASD cases and their siblings. The only difference between the autistic cases and their siblings was the significantly higher level of Bifidobacterium in siblings, which appears to offer them a protective role. There was no correlation between the altered gut microbiome and the severity of autism or GI symptoms. The current study showed an evidence of changes in the gut microbiome of autistic children compared to the unrelated control. However, the microbiome profile of siblings was more like that of autistic children than that of unrelated controls indicating that gut microbiota is affected by dietary habits, living conditions together with host genetic factors.
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2. Arakawa H. {{Somatosensorimotor and odor modification, along with serotonergic processes underlying the social deficits in BTBR T+ Itpr3(tf)/J and BALB/cJ mouse models of autism}}. {Neuroscience};2020 (Feb 12)
Autism is a complex spectrum of disorders characterized by core behavioral deficits in social communicative behavior, which are also required for comprehensive analysis of preclinical mouse models. As animal models of the core behavioral deficits in autism, two inbred mouse strains, BTBR T+ Itpr3(tf)/J (BTBR) and BALB/cJ (BALB), were compared with the standard social strain, C57BL/6J (B6), regarding a variety of behavioral factors underlying social communicative interactions, including olfactory and tactile sensory processes, social recognition abilities and behavioral expression strategies. Although both female BTBR and BALB mice can express social recognition and approach behavior depending on the stimuli they encounter, the available sensory modalities, along with modulation of the serotonergic system, differ between the two strains. BALB mice have deficits in using volatile olfactory cues and tactile information in a social context; they fail to exhibit a social approach to volatile cues and seek nonvolatile cues by exhibiting substantial sniff/contact behavior when allowed direct contact with social opponents. Systemic injection of the serotonin (5-HT1A) agonist buspirone has little effect on these social deficits, suggesting a congenitally degraded serotonergic system in BALB mice. In contrast, BTBR mice exhibit impaired body coordination and social motivation-modified olfactory signals, which are relevant to a reduced social approach. A systemic injection of the 5-HT1A agonist restored these social deficits in BTBR mice, indicating that a downregulated serotonergic system is involved in the social deficits exhibited by BTBR mice. (233).
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3. Bjorklund G, Meguid NA, Dadar M, Pivina L, Kaluzna-Czaplinska J, Jozwik-Pruska J, Aaseth J, Chartrand MS, Waly MI, Al-Farsi Y, Rahman MM, Pen JJ, Chirumbolo S. {{Specialized Diet Therapies: Exploration for Improving Behavior in Autism Spectrum Disorder (ASD)}}. {Curr Med Chem};2020 (Feb 16)
As a major neurodevelopmental disorder, autism spectrum disorder (ASD) encompasses deficits in communication and repetitive and restricted interests or behaviors in childhood and adolescence. Its etiology may come from either a genetic, epigenetic, neurological, hormonal, or an environmental cause, generating pathways that often altogether play a synergistic role in the development of ASD pathogenesis. Furthermore, the metabolic origin of ASD should be important as well. A balanced diet consisting of the essential and special nutrients, alongside the recommended caloric intake, is highly recommended to promote growth and development that withstands the physiologic and behavioral challenges experienced by ASD children. In this review paper, we evaluated many studies that show a relationship between ASD and diet to develop a better understanding of the specific effects of overall diet and the individual nutrients required for this population. This review will add a comprehensive update of knowledge in the field and shed light on the possible nutritional deficiencies, metabolic impairments (particularly in the gut microbiome), and malnutrition in individuals with ASD, which should be recognized in order to maintain improved socio-behavioral habit and physical health.
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4. 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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5. 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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6. Kumari D, Usdin K. {{Molecular analysis of FMR1 alleles for fragile X syndrome diagnosis and patient stratification}}. {Expert Rev Mol Diagn};2020 (Feb 18):1-3.
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7. Macari S, Milgramm A, Reed J, Shic F, Powell KK, Macris D, Chawarska K. {{Context-Specific Dyadic Attention Vulnerabilities During the First Year in Infants Later Developing Autism Spectrum Disorder}}. {J Am Acad Child Adolesc Psychiatry};2020 (Feb 13)
OBJECTIVE: Although some eye-tracking studies demonstrate atypical attention to faces by six months of age in autism spectrum disorder (ASD), behavioral studies in early infancy return largely negative results. We examined the effects of context and diagnosis on attention to faces during face-to-face live interactions in infants at high (HR) and low (LR) familial risk for ASD. METHOD: Participants were 6-, 9-, and 12-month-old siblings of children with ASD later determined to have ASD (n=21), other developmental challenges (HR-C; n=74), or typical development (TD) (HR-TD; n=32), and low-risk typically-developing controls (LR-TD; n=49). Infants were administered the Social Orienting Probes task, consisting of five conditions: Dyadic Bid, Song, Peek-a-boo, Tickle, and Toy Play. Attention to an unfamiliar examiner’s face was coded by blinded raters from video recordings. RESULTS: At all ages, the ASD group spent less time looking at the examiner’s face than the HR-C, HR-TD, and LR-TD groups during the Dyadic Bid and Tickle conditions (ps<.05), but not during the Song, Peek-a-Boo, or Toy Play conditions (ps >.23). Lower attention to faces during Dyadic Bid and Tickle conditions was significantly correlated with higher severity of autism symptoms at 18 months. CONCLUSION: During the prodromal stages of the disorder, infants with ASD exhibited subtle impairments in attention to faces of interactive partners during interactions involving eye contact and child-directed speech (with and without physical contact), but not in contexts involving singing, familiar anticipatory games, or toy play. Considering the convergence with eye-tracking findings on limited attention to faces in infants later diagnosed with ASD, reduced attention to faces of interactive partners in specific contexts may constitute a promising candidate behavioral marker of ASD in infancy.
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8. Pellicano E. {{Commentary: Broadening the research remit of participatory methods in autism science – a commentary on Happe and Frith (2020)}}. {J Child Psychol Psychiatry};2020 (Mar);61(3):233-235.
Autism science has transformed beyond recognition in the last two decades. International investment has grown extensively and the number of papers published on autism has increased 10-fold (Pellicano et al., 2014), far surpassing publications on related topics. The sheer amount of scientific research on autism has no doubt been instrumental in many of the discoveries and insights so eloquently described by Happe and Frith (2020). But, as autistic scientist Michelle Dawson reminds us, quality matters too and, for that reason, it is a delight to recognise the contribution that both Happe and Frith have made, dramatically changing our understanding of autism in a host of ways.
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9. Smith-Young J, Chafe R, Audas R. {{« Managing the Wait »: Parents’ Experiences in Accessing Diagnostic and Treatment Services for Children and Adolescents Diagnosed With Autism Spectrum Disorder}}. {Health Serv Insights};2020;13:1178632920902141.
Background: Parents of children and adolescents diagnosed with autism spectrum disorder (ASD) report delays in accessing timely diagnostic and treatment services for their children. Research has generally focused on parents’ experiences in caring for a child diagnosed with ASD. This study describes the process of how parents access ASD services for their children and adolescents. Method: This study used a qualitative research design that was informed by grounded theory methodology. We used constant comparative analysis to develop a process model and a core concept. Results: Seventeen parents of children and adolescents diagnosed with ASD were interviewed. Our process model included 3 main phases: Watchful waiting (noticing suspected behaviors, and searching for assessment and diagnosis); Informed waiting (receiving the diagnosis, facing challenges in accessing treatment services, and realizing the impact of an ASD diagnosis); and Contemplative waiting (pondering the future, reflecting on the past, and making recommendations). « Managing the Wait » was identified as the core category central to parents’ experience of this process. This process was found to be impacted by socioeconomic status, parents’ skills and capacity to advocate on their child’s behalf, and severity of their child’s ASD. Conclusions: Our findings illustrate the many barriers families face during their journey in accessing ASD services. Our results illustrate the need to address wait times for services, and provide education and support services for parents as a means of improving their self-advocacy skills, especially for parents of children and adolescents with severe disability.
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10. Udhnani M, Perez M, Clasen LS, Adeyemi E, Lee NR. {{Relations between Everyday Executive Functioning and Language in Youth with Down Syndrome and Youth with Autism Spectrum Disorder}}. {Dev Neuropsychol};2020 (Feb 16):1-15.
Language and executive functioning are major impairments in many neurodevelopmental disorders, but little is known about the relations between these constructs, particularly using parent-report. Thus, the current research sought to examine relations between executive function and language in two groups – Down syndrome (DS; n=41; Mage = 11.2) and autism spectrum disorder (ASD; n=91; Mage = 7.7). Results were as follows: in DS, executive function predicted pragmatic, but not structural language after covarying for age, sex, and social functioning; in ASD, executive function predicted both. Findings highlight the interrelatedness of language and executive functioning and may have implications for intervention development.
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11. Widman CJ, Lopez-Reyna NA. {{Supports for Postsecondary Students with Autism Spectrum Disorder: A Systematic Review}}. {J Autism Dev Disord};2020 (Feb 18)
In order to survey extant literature examining support specifically for postsecondary students with Autism Spectrum Disorder (ASD), a systematic review of the literature was conducted through a synthesis of an established protocol of quality indicators for special education research and the methodology for PRISMA (Preferred Reporting Items for Systematic reviews and Meta-Analyses). Eight themes were identified describing features of programs, interventions, and supports that were implemented or described in the 21 studies reviewed. One of the themes, parent support, is underexamined in the literature relating to postsecondary institutions. Recommendations for needed research are included.
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12. Yuan ZF, Mao SS, Shen J, Jiang LH, Xu L, Xu JL, Gao F. {{Insulin-Like Growth Factor-1 Down-Regulates the Phosphorylation of FXYD1 and Rescues Behavioral Deficits in a Mouse Model of Rett Syndrome}}. {Front Neurosci};2020;14:20.
Rett syndrome (RTT) is a neurodevelopmental disease in children that is mainly caused by mutations in the MeCP2 gene, which codes for a transcriptional regulator. The expression of insulin-like growth factor-1 (IGF-1) is reduced in RTT patients and animal models, and IGF-1 treatment is a promising therapeutic strategy for RTT. However, the mechanism underlying the effects of IGF-1 remains to be further explored. FXYD1 is an auxiliary subunit of Na, K-ATPase. Overexpression of FXYD1 is involved in the pathogenesis of RTT. However, whether IGF-1 exerts its effect through normalizing FXYD1 is completely unknown. To this end, we evaluated the effect of IGF-1 on FXYD1 expression and posttranslational modification in a mouse model of RTT (MeCP2(308)) using both in vitro and in vivo experiments. The results show that FXYD1 mRNA and phosphorylated protein (p-FXYD1) were significantly elevated in the frontal cortex in RTT mice, compared to wild type. In RTT mice, IGF-1 treatment significantly reduced levels of FXYD1 mRNA and p-FXYD1, in parallel with improvements in behavior, motor coordination, and cognitive function. For mechanistic insight into the effect of IGF-1 on p-FXYD1, we found the decreased phosphorylated forms of PI3K-AKT-mTOR signaling pathway components in the frontal cortex of RTT mice and the normalizing effect of IGF-1 on the phosphorylated forms of these components. Interestingly, blocking the PI3K/AKT pathway by PI3K inhibitor could abolish the effect of IGF-1 on p-FXYD1 level, in addition to the effect of IGF-1 on the phosphorylation of other components in the PI3K/AKT pathway. Thus, our study has provided new insights into the mechanism of IGF-1 treatment for RTT, which appears to involve FXYD1.
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13. 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.
