1. Casartelli L, Cesareo A, Biffi E, Campione GC, Villa L, Molteni M, Sinigaglia C. {{Vitality form expression in autism}}. {Sci Rep}. 2020; 10(1): 17182.
The notion of « vitality form » has been coined by Daniel Stern to describe the basic features of action, which may reflect the mood or affective state of an agent. There is general consensus that vitality forms substantiate social interactions in children as well in adults. Previous studies have explored children with Autism Spectrum Disorder (ASD)’s ability in copying and recognizing the vitality forms of actions performed by others. In this paper we investigated, for the first time, how children with ASD express different vitality forms when acting themselves. We recorded the kinematics of ASD and typically developing (TD) children while performing three different types of action with two different vitality forms. There were two conditions. In the what condition we contrasted the three different types of action performed with a same vitality form, while in the how condition we contrasted the same type of action performed with two different vitality forms. The results showed a clear difference between ASD children and TD children in the how, but not in the what, condition. Indeed, while TD children distinguished the vitality forms to be expressed by mostly varying a specific spatiotemporal parameter (i.e. movement time), no significant variation in this parameter was found in ASD children. As they are not prone to express vitality forms as neurotypical individuals do, individuals with ASD’s interactions with neurotypical peers could therefore be difficult to achieve successfully, with cascading effects on their propensity to be tuned to their surrounding social world, or so we conjecture. If this conjecture would turn out to be correct, our findings could have promising implication for theoretical and clinical research in the context of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
2. Chien YL, Chao CC, Wu SW, Hsueh HW, Chiu YN, Tsai WC, Gau SS, Hsieh ST. {{Small fiber pathology in autism and clinical implications}}. {Neurology}. 2020.
OBJECTIVE: To investigate small-fiber innervation of the skin and its relationships with clinicometry of autism and peripheral afferents for contact heat-evoked potential (CHEP) and psychophysical measures of thermal thresholds. METHODS: We recruited 32 men with autism (26.5 ± 5.9 years) and conducted small fiber assessments of (1) skin biopsy with quantifying intraepidermal nerve fiber (IENF) density, (2) CHEP, (3) quantitative sensory testing, and large-fiber physiology of nerve conduction studies. Results were compared with age-matched controls and analyzed with clinical measures of autism. RESULTS: Autism patients showed a lower IENF density than control subjects (5.53 ± 2.09 vs 11.13 ± 3.49 fibers/mm, p < 0.0001). The IENF density was reduced in 17 (53.1%) autism men classified as skin denervation group. On psychophysics, 9 (28%) autism men had elevated thermal thresholds, and the warm threshold of the big toe was negatively correlated with IENF density (p = 0.0073), indicating functional impairments of small-fiber sensory nerves. IENF density was negatively correlated with CHEP amplitude in autism (p = 0.003) in contrast to the pattern of positive correlation in controls, indicating different processing of nociceptive afferent in autism. Clinically, IENF density was related to distinct tactile symptom patterns in the skin denervation vs normal innervation group, respectively. Furthermore, IENF density was associated with autistic symptoms measured by the Autism-spectrum Quotient in a U-shaped model (p = 0.014). CONCLUSIONS: These observations indicated that a substantial portion of autism individuals had small fiber pathology, which was associated with tactile and autistic symptoms, providing structural and physiologic evidence for the involvement of peripheral sensory nerves in autism. Lien vers le texte intégral (Open Access ou abonnement)
3. Gennaro RJ. {{Synesthesia, hallucination, and autism}}. {Frontiers in bioscience (Landmark edition)}. 2021; 26: 797-809.
Synesthesia literally means a « union of the senses » whereby two or more of the five senses that are normally experienced separately are involuntarily and automatically joined together in experience (1, 2, 3). For example, some synesthetes experience a color when they hear a sound, although many instances of synesthesia also occur entirely within the visual sense. In this paper, I first mainly engage critically with Sollberger’s view that there is reason to think that at least some synesthetic experiences can be viewed as truly veridical perceptions, and not as illusions or hallucinations (4). Among other things, I explore the possibility that many forms of synesthesia can be understood as experiencing what I will call « second-order secondary properties, » that is, experiences of properties of objects induced by the secondary qualities of those objects. In doing so, I shed some light on why synesthesia is typically one-directional and its relation to some psychopathologies such as autism.
4. Hart LC. {{Improving Transition to Adult Care for Those With Developmental Disabilities: An Unclear Path}}. {Pediatrics}. 2020.
Lien vers le texte intégral (Open Access ou abonnement)
5. Hull L, Petrides KV, Mandy W. {{Cognitive Predictors of Self-Reported Camouflaging in Autistic Adolescents}}. {Autism Res}. 2020.
Camouflaging involves masking and/or compensating for autistic characteristics and has been identified in autistic individuals through a variety of different methods. Individual variation in the extent, processes and outcomes of camouflaging has been reported in autistic adults, and there has been some investigation of camouflaging by autistic adolescents. This study was conducted to better understand how some of these individual differences emerge, by examining potential mechanisms (theory of mind, executive function, intelligence quotient and age) involved in camouflaging by 58 autistic adolescents aged 13-18 years (29 females, 29 males). Fewer executive function difficulties predicted greater use of total camouflaging strategies and the compensation subscale, but not the masking or assimilation subscales; no other predictors reached statistical significance. These findings suggest that individual differences in executive function ability may underlie variation in the use of camouflaging by adolescents. The total variance explained in the model was small, suggesting the need to examine other factors which may underpin camouflaging. The implications of this finding for the relationship between camouflaging and well-being are discussed, along with the distinction between attempts to camouflage and the efficacy of those attempts. LAY SUMMARY: Camouflaging involves hiding your autism or finding ways around difficulties in order to fit in during social situations. This study found that autistic teenagers with good executive function abilities camouflage their autism more than those who struggle with executive function (which includes planning, goal-direction and memory). This may have implications for teenagers’ mental health and their social functioning.
Lien vers le texte intégral (Open Access ou abonnement)
6. Kung KTF, Thankamony A, Ong KKL, Acerini CL, Dunger DB, Hughes IA, Hines M. {{No relationship between prenatal or early postnatal androgen exposure and autistic traits: evidence using anogenital distance and penile length measurements at birth and 3 months of age}}. {J Child Psychol Psychiatry}. 2020.
BACKGROUND: Autism is more prevalent in males than in females. Hypotheses related to the extreme male brain theory of autism suggest that heightened androgen exposure during early development contributes to autistic traits. Whilst prior research focused mostly on the prenatal period, the current study tests the influences of androgen exposure during both the prenatal and the early postnatal periods on autistic traits during childhood. METHODS: Anthropometric measures that are putative biomarkers of early androgen exposure were employed. Anogenital distance (AGD) was measured at birth and 3 months of age in boys and girls. Penile length at birth and 3 months of age was also measured in boys. When the children were 9-13 years old, a parent-reported questionnaire (the 10-item children’s version of the Autism Spectrum Quotient; AQ-10 Child) was used to assess autistic traits in 97 boys and 110 girls. RESULTS: There were no significant associations between any of the AGD or penile length measures and scores on the AQ-10 Child in boys, girls or the entire sample. CONCLUSIONS: The current study provides the first test of whether early measurements of AGD and/or penile length predict subsequent autistic traits. The current findings do not support a relationship between prenatal or early postnatal androgen exposure and autistic traits. The current study augments prior research showing no consistent relationship between early androgen exposure and autistic traits.
Lien vers le texte intégral (Open Access ou abonnement)
7. Marsack-Topolewski CN. {{Receipt of Social Support among Compound and Noncompound Caregivers of Adults with Autism}}. {Journal of gerontological social work}. 2020: 1-15.
For parents of adult children with autism spectrum disorder (ASD), caregiving can be ongoing, beginning at diagnosis and continuing throughout adulthood. As parental caregivers age, many may be faced with additional caregiving responsibilities, such as caring for another loved one. This study examined differences in formal and informal social support used by caregivers providing care to more than one person with at least one being an adult child with ASD (compound caregivers) and those caring for a single adult child with ASD (noncompound caregivers). A nationwide sample of 320 parents (age 50 or older) of adult children with ASD completed a web-based survey to understand use of formal and informal social support. Fisher’s exact probability tests were used to determine significant differences in the extent to which the services were used by the two groups of caregivers. Results indicated that 4 of the 12 formal and 2 of the 6 informal social support services differed significantly between compound and noncompound caregivers. Given that both groups of caregivers were aging, future research should focus on understanding what services are anticipated to be needed as these changes occur and as changes to future care plans are needed, to best support their care-recipients.
Lien vers le texte intégral (Open Access ou abonnement)
8. Miyasaka M, Nomura M. {{The effect of ADHD and ASD symptoms on the mental health of college students: a longitudinal study conducted in Japan}}. {Journal of American college health : J of ACH}. 2020: 1-5.
Developmental disorders, such as attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), are some of the biggest contributors to mental health problems. However, it is not well known whether and how experiencing ADHD- or ASD-related symptoms can cause mental illness later in life. Participants: The sample initially included 124 college students, and 54 completed the study (M (age) = 21.9 ± 2.8). Methods: In this study, a longitudinal survey was conducted to investigate the relationship between current ADHD- and ASD-related symptoms and later mental distress in college students. Participants answered the same questionnaire on two occasions, at an interval of approximately 8.5 months. Results: The results suggested that experiencing hyperactivity-impulsivity at this point in life causes later psychiatric illness. Conclusion: These findings highlight the importance of early assessments and providing support for college students with ADHD-related symptoms, especially hyperactivity-impulsivity.
Lien vers le texte intégral (Open Access ou abonnement)
9. Mordaunt CE, Jianu JM, Laufer BI, Zhu Y, Hwang H, Dunaway KW, Bakulski KM, Feinberg JI, Volk HE, Lyall K, Croen LA, Newschaffer CJ, Ozonoff S, Hertz-Picciotto I, Fallin MD, Schmidt RJ, LaSalle JM. {{Cord blood DNA methylome in newborns later diagnosed with autism spectrum disorder reflects early dysregulation of neurodevelopmental and X-linked genes}}. {Genome medicine}. 2020; 12(1): 88.
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with complex heritability and higher prevalence in males. The neonatal epigenome has the potential to reflect past interactions between genetic and environmental factors during early development and influence future health outcomes. METHODS: We performed whole-genome bisulfite sequencing of 152 umbilical cord blood samples from the MARBLES and EARLI high-familial risk prospective cohorts to identify an epigenomic signature of ASD at birth. Samples were split into discovery and replication sets and stratified by sex, and their DNA methylation profiles were tested for differentially methylated regions (DMRs) between ASD and typically developing control cord blood samples. DMRs were mapped to genes and assessed for enrichment in gene function, tissue expression, chromosome location, and overlap with prior ASD studies. DMR coordinates were tested for enrichment in chromatin states and transcription factor binding motifs. Results were compared between discovery and replication sets and between males and females. RESULTS: We identified DMRs stratified by sex that discriminated ASD from control cord blood samples in discovery and replication sets. At a region level, 7 DMRs in males and 31 DMRs in females replicated across two independent groups of subjects, while 537 DMR genes in males and 1762 DMR genes in females replicated by gene association. These DMR genes were significantly enriched for brain and embryonic expression, X chromosome location, and identification in prior epigenetic studies of ASD in post-mortem brain. In males and females, autosomal ASD DMRs were significantly enriched for promoter and bivalent chromatin states across most cell types, while sex differences were observed for X-linked ASD DMRs. Lastly, these DMRs identified in cord blood were significantly enriched for binding sites of methyl-sensitive transcription factors relevant to fetal brain development. CONCLUSIONS: At birth, prior to the diagnosis of ASD, a distinct DNA methylation signature was detected in cord blood over regulatory regions and genes relevant to early fetal neurodevelopment. Differential cord methylation in ASD supports the developmental and sex-biased etiology of ASD and provides novel insights for early diagnosis and therapy.
Lien vers le texte intégral (Open Access ou abonnement)
10. Morinaga M, Rai D, Hollander AC, Petros N, Dalman C, Magnusson C. {{Migration or ethnic minority status and risk of autism spectrum disorders and intellectual disability: systematic review}}. {European journal of public health}. 2020.
BACKGROUND: There is an emerging evidence that the migration and the ethnic minority status are associated with the risks of autism spectrum disorder (ASD) and intellectual disability (ID). This systematic review aimed to investigate whether associations are specific to ASD or ID; whether and which migration-related or ethnically determined factors are associated with the risk of ASD and ID; and what mechanisms may explain these risks. METHODS: A systematic literature search was conducted using Embase, Medline and PsycINFO for studies reporting on the risks of ASD and/or ID among migrants, descendants of migrants and/or ethnic minorities. Risks of any ASD, ASD + ID, ASD – ID and any ID were reviewed in relation to migration and ethnic minority status, with consideration to the study quality. In addition, possible underlying mechanisms suggested in the included studies were summarized. RESULTS: Thirty-five studies were included. The summarized evidence indicated an increased risk of ASD + ID and a decreased risk of ASD – ID in migrants, descendants of migrants and ethnic minorities. These associations appeared more pronounced among children of migrant mothers, with origin in low-income countries, and among descendants of migrants. Data on ID were scarce. Suggested mechanisms explaining the increased risks of ASD + ID included environmental factors acting in utero and genetic factors (including consanguinity), while ascertainment bias was proposed to account for the lowered risks of diagnosed ASD – ID. CONCLUSION: Migration-related factors acting in utero and/or associated with origin in low-income countries may be important in the ASD + ID aetiology, although further confirmative studies are needed.
Lien vers le texte intégral (Open Access ou abonnement)
11. Nogay NH, Walton J, Roberts KM, Nahikian-Nelms M, Witwer AN. {{The Effect of the Low FODMAP Diet on Gastrointestinal Symptoms, Behavioral Problems and Nutrient Intake in Children with Autism Spectrum Disorder: A Randomized Controlled Pilot Trial}}. {J Autism Dev Disord}. 2020.
Some research suggests that GI symptoms seen in children with ASD may relate to behavior problems. The objective of this pilot study was to assess the effect of the low fermentable oligosaccharides, disaccharides, monosaccharides, and polyols (FODMAP) diet on GI and behavioral problems in children with ASD. At follow-up, the low FODMAP diet group had significant relief in some GI problems compared with both baseline in the group and control group. At baseline and at follow-up, there were no significant differences in behavioral problems between the low FODMAP diet group and the control group. Randomized controlled studies including larger sample sizes are needed to confirm the effects of low FODMAP diets in children with autism who have gastrointestinal problems.
Lien vers le texte intégral (Open Access ou abonnement)
12. Poletti M, Raballo A. {{Childhood schizotypal features vs. high-functioning autism spectrum disorder: Developmental overlaps and phenomenological differences}}. {Schizophrenia research}. 2020.
Although autism spectrum disorder and schizophrenia have allegedly different onset timelines (e.g. in early years of life vs adolescence/early adulthood), there is nonetheless a diagnostic grey-zone along developmental stages, in which overlapping clinical features related to social impairment and oddity could impact on the differential diagnosis between childhood schizotypal features and high-functioning autism spectrum disorder. A phenomenological perspective may be helpful for the purpose of timely differential diagnosis also in developmental years.
Lien vers le texte intégral (Open Access ou abonnement)
13. Rajagopal S, Nicholson K, Putri TR, Addington J, Felde A. {{Teaching children with autism to tact private events based on public accompaniments}}. {Journal of applied behavior analysis}. 2020.
We evaluated a method for teaching children with autism spectrum disorder to respond to tactile stimulation of multiple body parts. Various objects (e.g., hairbrush) produced the sensations (e.g., prickly). In a multiple baseline design across participants, participants learned 9 sensation body part tacts and the evaluation concluded with tests of generalization to 3 novel body parts, 6 novel objects, and 3 novel sensations. Participants demonstrated generalization to novel objects, and to a lesser extent, novel body parts, but did not generalize tacts to novel sensations. These findings are discussed in terms of implications for teaching children with autism to tact sensations.
Lien vers le texte intégral (Open Access ou abonnement)
14. Rehbein T, Herrmann DN. {{Sensory processing in autism spectrum disorders: Insights from the periphery?}}. {Neurology}. 2020.
Lien vers le texte intégral (Open Access ou abonnement)
15. Sacai H, Sakoori K, Konno K, Nagahama K, Suzuki H, Watanabe T, Watanabe M, Uesaka N, Kano M. {{Autism spectrum disorder-like behavior caused by reduced excitatory synaptic transmission in pyramidal neurons of mouse prefrontal cortex}}. {Nat Commun}. 2020; 11(1): 5140.
Autism spectrum disorder (ASD) is thought to result from deviation from normal development of neural circuits and synaptic function. Many genes with mutation in ASD patients have been identified. Here we report that two molecules associated with ASD susceptibility, contactin associated protein-like 2 (CNTNAP2) and Abelson helper integration site-1 (AHI1), are required for synaptic function and ASD-related behavior in mice. Knockdown of CNTNAP2 or AHI1 in layer 2/3 pyramidal neurons of the developing mouse prefrontal cortex (PFC) reduced excitatory synaptic transmission, impaired social interaction and induced mild vocalization abnormality. Although the causes of reduced excitatory transmission were different, pharmacological enhancement of AMPA receptor function effectively restored impaired social behavior in both CNTNAP2- and AHI1-knockdown mice. We conclude that reduced excitatory synaptic transmission in layer 2/3 pyramidal neurons of the PFC leads to impaired social interaction and mild vocalization abnormality in mice.
Lien vers le texte intégral (Open Access ou abonnement)
16. Sewani H, Kashef R. {{An Autoencoder-Based Deep Learning Classifier for Efficient Diagnosis of Autism}}. {Children (Basel, Switzerland)}. 2020; 7(10).
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by a lack of social communication and social interaction. Autism is a mental disorder investigated by social and computational intelligence scientists utilizing advanced technologies such as machine learning models to enhance clinicians’ ability to provide robust diagnosis and prognosis of autism. However, with dynamic changes in autism behaviour patterns, these models’ quality and accuracy have become a great challenge for clinical practitioners. We applied a deep neural network learning on a large brain image dataset obtained from ABIDE (autism brain imaging data exchange) to provide an efficient diagnosis of ASD, especially for children. Our deep learning model combines unsupervised neural network learning, an autoencoder, and supervised deep learning using convolutional neural networks. Our proposed algorithm outperforms individual-based classifiers measured by various validations and assessment measures. Experimental results indicate that the autoencoder combined with the convolution neural networks provides the best performance by achieving 84.05% accuracy and Area under the Curve (AUC) value of 0.78.
Lien vers le texte intégral (Open Access ou abonnement)
17. Tarver J, Vitoratou S, Mastroianni M, Heaney N, Bennett E, Gibbons F, Fiori F, Absoud M, Ramasubramanian L, Simonoff E, Santosh P. {{Development and Psychometric Properties of a New Questionnaire to Assess Mental Health and Concerning Behaviors in Children and Young People with Autism Spectrum Disorder (ASD): The Assessment of Concerning Behavior (ACB) Scale}}. {J Autism Dev Disord}. 2020.
Although 70% of autistic children and young people meet criteria for co-occurring psychiatric conditions, there are few screening measures specifically for autistic individuals. We describe the development and validation of the Assessment of Concerning Behavior (ACB), an instrument co-developed with the autistic community to assess mental health and problematic/risky behaviors. Items include descriptions to facilitate symptom recognition by autistic people, and carers/professionals. The ACB was completed by 255 parents, 149 autistic children and young people and 30 teachers. Internal consistency, stability and validity was assessed. The ACB parent-version fit a two-factor model (internalizing and externalizing problems) and showed adequate test-retest reliability, internal consistency and construct validity. The ACB is a promising new measure for research and clinical use in autism.
Lien vers le texte intégral (Open Access ou abonnement)
18. Walsh C, Lydon S, Hehir A, O’Connor P. {{Development and evaluation of a novel caregiver-report tool to assess barriers to physical healthcare for people on the autism spectrum}}. {Res Autism Spectr Disord}. 2020; 79: 101680.
INTRODUCTION: People on the autism spectrum often experience poorer health than the general population despite higher engagement with the health services. This suggests a disparity in the accessibility of appropriate healthcare for autistic individuals. To improve access, barriers the autism community experience in healthcare first need to be identified. This paper aimed to: 1) develop and evaluate a caregiver-report tool; 2) identify barriers to physical healthcare for autistic individuals; and 3) identify potential contributing factors. METHODS: A previously established taxonomy of barriers to healthcare for autistic individuals informed the development of the tool; this was then distributed to caregivers of autistic adults and children. Exploratory factor analysis (EFA) assessed validity and reliability of the tool. Multiple Regressions were performed to identify predictors of barriers. RESULTS: In total, caregivers of 194 autistic children or adults participated in the study. The EFA produced four factors: 1) patient-level barriers; 2) healthcare provider-level (HCP) barriers; 3) healthcare system-level barriers; and 4) barriers related to managing healthcare. The greatest barriers included difficulties with identifying/reporting symptoms (endorsed by 62.4% of participants); difficulties handling the waiting area (60.3% of participants); and a lack of HCP knowledge regarding autism (52.1% of participants). Autism severity, general adjustment problems, anxiety, age and having unmet needs predicted the frequency and/or severity of barriers. CONCLUSIONS: A tool that allows assessment of patient-, HCP-, and system-level barriers to healthcare was developed and evaluated. Patient-level barriers appear to occur frequently and pose substantial challenges. This tool will help identify areas most in need of intervention and support intervention evaluation.
Lien vers le texte intégral (Open Access ou abonnement)
19. Ward R, Sanoudaki E. {{Bilingualism in children with a dual diagnosis of Down syndrome and Autism Spectrum Disorder}}. {Clinical linguistics & phonetics}. 2020: 1-27.
Research shows that a substantial proportion of children with Down syndrome (DS) also meet the clinical criteria for Autism Spectrum Disorder (ASD). Children with this dual diagnosis display a linguistic profile that includes significant language delays and language impairments which often differ from the impairments observed in each developmental disability (DD) separately. Given the challenges observed with language acquisition for children with DS-ASD, concerns might be raised regarding the outcomes and suitability of a bilingual environment for children with this dual diagnosis specifically. The aim of this research was to explore the language profiles of four children with DS-ASD. A multiple case-study approach was employed. Four children with a confirmed DS-ASD diagnosis who had received exposure to two languages (English and Welsh) were assessed on a range of cognitive and linguistic measures. Performance was compared to three control groups; bilinguals with DS, English monolinguals with DS and mental age-matched typically developing bilinguals. Assessments comprised of expressive and receptive language, phonological awareness, working memory and non-verbal cognitive abilities. Considerable variability was found in the cognitive and linguistic profiles of the case-study participants. Children with DS-ASD displayed similar language profiles to that of the bilingual and monolingual children with DS in the areas tested, although performance was generally lower than that of the TD bilingual children. Although substantial variability was found, participants were developing bilingual abilities in a similar trajectory to children with DS in line with the degree of exposure to each language. This research highlights the need to assess bilingual children with complex dual diagnoses with an individualistic approach and carefully consider how to appropriately assess and treat bilingual children within speech and language therapy provisions.
Lien vers le texte intégral (Open Access ou abonnement)
20. Westmark CJ, Kniss C, Sampene E, Wang A, Milunovich A, Elver K, Hessl D, Talboy A, Picker J, Haas-Givler B, Esler A, Gropman AL, Uy R, Erickson C, Velinov M, Tartaglia N, Berry-Kravis EM. {{Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome}}. {Nutrients}. 2020; 12(10).
A large number of adults and children consume soy in various forms, but little information is available regarding potential neurological side effects. Prior work indicates an association between the consumption of soy-based diets and seizure prevalence in mouse models of neurological disease and in children with autism. Herein, we sought to evaluate potential associations between the consumption of soy-based formula during infancy and disease comorbidities in persons with fragile X syndrome (FXS), while controlling for potentially confounding issues, through a retrospective case-control survey study of participants with FXS enrolled in the Fragile X Online Registry with Accessible Research Database (FORWARD). There was a 25% usage rate of soy-based infant formula in the study population. We found significant associations between the consumption of soy-based infant formula and the comorbidity of autism, gastrointestinal problems (GI) and allergies. Specifically, there was a 1.5-fold higher prevalence of autism, 1.9-fold GI problems and 1.7-fold allergies in participants reporting the use of soy-based infant formula. The major reason for starting soy-based infant formula was GI problems. The average age of seizure and allergy onset occurred long after the use of soy-based infant formula. We conclude that early-life feeding with soy-based infant formula is associated with the development of several disease comorbidities in FXS.
Lien vers le texte intégral (Open Access ou abonnement)
21. Zhao WL, Gu NH, Li ZZ, Wang GS, Cheng CY, Sun F. {{Autism-like behaviors and abnormality of glucose metabolism in offspring derived from aging males with epigenetically modified sperm}}. {Aging}. 2020; 12(19): 19766-84.
Accumulating evidence from epidemiological studies of humans and genetic models in rodents has shown that offspring from males of advanced paternal age (APA) are susceptible to metabolic and neurological disorders. However, knowledge of molecular mechanism(s) underlying these metabolic and behavioral changes at the intergeneration and trans-generation levels from APA is limited. Here, we characterized changes on glucose and cholesterol metabolism, and also autism spectrum disorders (ASD)-like behaviors in 1(st) and 2(nd) generations from 12- and 18-month-old male mice, respectively. Whole Genome Bisulfite Sequencing (WGBS) of sperm from APA mice identified differentially methylated regions (DMRs) within the whole genome, and DMRs within promoter regions, suggesting that specific genes and relevant pathways might be associated with autism and aberrant glucose metabolism in the offspring from APA males. These results strongly suggest that epigenetic reprogramming induced by aging in male sperm may lead to high risks of aberrant glucose metabolism and the development of ASD behaviors in intergenerational and transgenerational offspring.
