Pubmed du 04/12/21
1. Breastfeeding Experiences of Autistic Women. MCN The American journal of maternal child nursing. 2022; 47(1): E1.
Lien vers le texte intégral (Open Access ou abonnement)
2. Bonnet-Brilhault F, Roux S, Blanc R, Gomot M, Dansart P, Rouvre O, Houy-Durand E, Malvy J, Barthélémy C. [The BSE2 scale : A new clinical tool for the diagnostic of ASD within NDDs]. L’Encephale. 2021.
OBJECTIVES: The behavioral summarized evaluation scales, the BSE and its revised version the BSE-R, were developed and validated in the 1980-1990s. The BSE-R is still used daily by clinical teams in France and foreign countries, and it is recommended by the French Health Authority (2018). Having taken into account knowledge improvement in neurodevelopment and autism spectrum disorder (ASD) and the importance of observation by relatives in ecological context, the second version of the BSE was developed. This paper presents the construction and the validation study of the second version of the behavioral summarized evaluation scale, the BSE2 and the BSE2-P rated by parents. METHODS: Construct validity of the BSE2 scale has been studied in a population of 244 children and adolescents with ASD according to DSM-5 criteria, aged from 30 months to 18 years. Discriminant validity has been analyzed using a population of 86 patients of the same age, with neurodevelopmental disorder (NDD) without comorbidity of ASD. RESULTS: BSE2 comprises 30 items and is a two-dimensional scale as was BSE-R. Both dimensions, labelled « Interaction » (11 items) and « Modulation » (11 items), accounted for 41.7 % of the total variance. They describe autism severity and are in accordance with the two DSM-5 dimensions. Internal consistency (0.927 and 0.850 respectively) and inter-rater reliability (0.932 and 0.897 respectively) are good or excellent for both dimensions. Sensibility and specificity (0.758 and 0.767 respectively) range BSE2 among the tools with good psychometric properties. The parent version, BSE2-P, dedicated to ecological context is easily rated by parents. CONCLUSIONS: BSE2 scale for children and adolescents is a clinical tool with good psychometric properties. Its two-dimensional structure is in accordance with DSM-5 criteria. This scale covers all spectrum of ASD clinical forms in both children and adolescents. It can be used to identify ASD in complex neurodevelopmental disorders with several comorbidities and can help to distinguish autism symptomatology from other neurodevelopmental diagnoses. Furthermore, this scale allows to expand the rating context, involving parents to define and adjust the individualized therapeutic project. Thus the BSE2 is a valuable clinical tool for practitioners for both diagnosis and follow-up.
Lien vers le texte intégral (Open Access ou abonnement)
3. Burstein O, Geva R. The Brainstem-Informed Autism Framework: Early Life Neurobehavioral Markers. Frontiers in integrative neuroscience. 2021; 15: 759614.
Autism spectrum disorders (ASD) have long-term implications on functioning at multiple levels. In this perspective, we offer a brainstem-informed autism framework (BIAF) that traces the protracted neurobehavioral manifestations of ASD to early life brainstem dysfunctions. Early life brainstem-mediated markers involving functions of autonomic/arousal regulation, sleep-wake homeostasis, and sensorimotor integration are delineated. Their possible contributions to the early identification of susceptible infants are discussed. We suggest that the BIAF expands our multidimensional understanding of ASD by focusing on the early involvement of brainstem systems. Importantly, we propose an integrated BIAF screener that brings about the prospect of a sensitive and reliable early life diagnostic scheme for weighing the risk for ASD. The BIAF screener could provide clinicians substantial gains in the future and may carve customized interventions long before the current DSM ASD phenotype is manifested using dyadic co-regulation of brainstem-informed autism markers.
Lien vers le texte intégral (Open Access ou abonnement)
4. Caracci MO, Avila ME, Espinoza-Cavieres FA, López HR, Ugarte GD, De Ferrari GV. Wnt/β-Catenin-Dependent Transcription in Autism Spectrum Disorders. Frontiers in molecular neuroscience. 2021; 14: 764756.
Autism spectrum disorders (ASD) is a heterogeneous group of neurodevelopmental disorders characterized by synaptic dysfunction and defects in dendritic spine morphology. In the past decade, an extensive list of genes associated with ASD has been identified by genome-wide sequencing initiatives. Several of these genes functionally converge in the regulation of the Wnt/β-catenin signaling pathway, a conserved cascade essential for stem cell pluripotency and cell fate decisions during development. Here, we review current information regarding the transcriptional program of Wnt/β-catenin signaling in ASD. First, we discuss that Wnt/β-catenin gain and loss of function studies recapitulate brain developmental abnormalities associated with ASD. Second, transcriptomic approaches using patient-derived induced pluripotent stem cells (iPSC) cells, featuring mutations in high confidence ASD genes, reveal a significant dysregulation in the expression of Wnt signaling components. Finally, we focus on the activity of chromatin-remodeling proteins and transcription factors considered high confidence ASD genes, including CHD8, ARID1B, ADNP, and TBR1, that regulate Wnt/β-catenin-dependent transcriptional activity in multiple cell types, including pyramidal neurons, interneurons and oligodendrocytes, cells which are becoming increasingly relevant in the study of ASD. We conclude that the level of Wnt/β-catenin signaling activation could explain the high phenotypical heterogeneity of ASD and be instrumental in the development of new diagnostics tools and therapies.
Lien vers le texte intégral (Open Access ou abonnement)
5. Dillon EF, Kanne S, Landa RJ, Annett R, Bernier R, Bradley C, Carpenter L, Kim SH, Parish-Morris J, Schultz R, Wodka EL. Sex Differences in Autism: Examining Intrinsic and Extrinsic Factors in Children and Adolescents Enrolled in a National ASD Cohort. Journal of autism and developmental disorders. 2021.
Discernment of possible sex-based variations in presentations of autism spectrum disorder (ASD) symptoms is limited by smaller female samples with ASD and confounds with ASD ascertainment. A large national cohort of individuals with autism, SPARK, allowed parent report data to be leveraged to examine whether intrinsic child characteristics and extrinsic factors differentially impact males and females with ASD. Small but consistent sex differences in individuals with ASD emerged related to both intrinsic and extrinsic factors, with different markers for males and females. Language concerns in males may make discernment of ASD more straightforward, while early motor concerns in females may hamper diagnosis as such delays are not identified within traditional ASD diagnostic criteria.
Lien vers le texte intégral (Open Access ou abonnement)
6. Henderson LM, St Clair M, Knowland V, van Rijn E, Walker S, Gaskell MG. Stronger Associations Between Sleep and Mental Health in Adults with Autism: A UK Biobank Study. Journal of autism and developmental disorders. 2021.
This study examined sleep and its cognitive and affective correlates in adults with and without autism spectrum disorder (ASD), utilizing UK Biobank data. There were no group differences in subjective sleep duration [n = 220 ASD; n = 2200 general population (GP)]. Accelerometer measures of sleep duration or nighttime activity did not differ by group, but sleep efficiency was marginally lower in ASD (n = 83 ASD; n = 824 GP). Sleep efficiency was associated with wellbeing and mental health, and pathways between accelerometer sleep measures and wellbeing and mental health were significantly stronger for adults with ASD (who also reported substantially poorer wellbeing and > 5 × likelihood of experiencing mental distress). These findings highlight the need to monitor sleep to maintain good mental health in adult ASD.
Lien vers le texte intégral (Open Access ou abonnement)
7. Kamionkowski S, Shibli F, Ganocy S, Fass R. The relationship between gastroesophageal reflux disease and autism spectrum disorder in adult patients in the United States. Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society. 2021: e14295.
BACKGROUND: Gastroesophageal reflux disease (GERD) has been associated with psychiatric and neurocognitive disorders. Those with autism spectrum disorder (ASD) are prone to gastrointestinal (GI) diseases, but most research has been done on children. Our aim was to determine the relationship between GERD and autism in adults and assess GERD-related complications in those with autism. METHODS: A national cohort of adults aged 18 and above with GERD with and without ASD were compared to those without GERD. Complications of GERD that were studied included Barrett’s esophagus, erosive esophagitis, esophageal stricture, ulcer, and malignancy. Conditions associated with GERD were evaluated including chronic cough, wheezing, sore throat, non-cardiac chest pain, and hoarseness. GERD treatment that was evaluated included proton pump inhibitors (PPIs), H2 receptor antagonists (H2RA), and anti-reflux surgery. KEY RESULTS: There was an increased risk of GERD in subjects with ASD (p = 0.0001). Erosive esophagitis and esophageal ulcer were more likely to occur in those with GERD and ASD (p = 0.0001). Those with ASD were at higher risk of suffering from wheezing following a diagnosis of GERD compared to those without ASD (p = 0.0001). Those with GERD and ASD were more likely to be treated with an H2RA both as monotherapy and in combination with PPI versus those without ASD (p = 0.0001 and p = 0.0037, respectively). CONCLUSIONS AND INFERENCES: Adult patients with ASD are more likely to have GERD as well as complications including erosive esophagitis and esophageal ulcer. Treatment of patients with GERD and ASD is not consistent and may suggest health care disparities.
Lien vers le texte intégral (Open Access ou abonnement)
8. Kotsiliti E. Gut microbiome and autism spectrum disorder. Nature reviews Gastroenterology & hepatology. 2022; 19(1): 6.
Lien vers le texte intégral (Open Access ou abonnement)
9. Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB, Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Human mutation. 2022; 43(2): 266-82.
De novo variants in QRICH1 (Glutamine-rich protein 1) has recently been reported in 11 individuals with intellectual disability (ID). The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response of endoplasmic reticulum stress through transcriptional control of proteostasis. In this study, we present 27 additional individuals and delineate the clinical and molecular spectrum of the individuals (n = 38) with QRICH1 variants. The main clinical features were mild to moderate developmental delay/ID (71%), nonspecific facial dysmorphism (92%) and hypotonia (39%). Additional findings included poor weight gain (29%), short stature (29%), autism spectrum disorder (29%), seizures (24%) and scoliosis (18%). Minor structural brain abnormalities were reported in 52% of the individuals with brain imaging. Truncating or splice variants were found in 28 individuals and 10 had missense variants. Four variants were inherited from mildly affected parents. This study confirms that heterozygous QRICH1 variants cause a neurodevelopmental disorder including short stature and expands the phenotypic spectrum to include poor weight gain, scoliosis, hypotonia, minor structural brain anomalies, and seizures. Inherited variants from mildly affected parents are reported for the first time, suggesting variable expressivity.
Lien vers le texte intégral (Open Access ou abonnement)
10. Lucas A, Poleg S, Klug A, McCullagh EA. Myelination Deficits in the Auditory Brainstem of a Mouse Model of Fragile X Syndrome. Frontiers in neuroscience. 2021; 15: 772943.
Auditory symptoms are one of the most frequent sensory issues described in people with Fragile X Syndrome (FXS), the most common genetic form of intellectual disability. However, the mechanisms that lead to these symptoms are under explored. In this study, we examined whether there are defects in myelination in the auditory brainstem circuitry. Specifically, we studied myelinated fibers that terminate in the Calyx of Held, which encode temporally precise sound arrival time, and are some of the most heavily myelinated axons in the brain. We measured anatomical myelination characteristics using coherent anti-stokes Raman spectroscopy (CARS) and electron microscopy (EM) in a FXS mouse model in the medial nucleus of the trapezoid body (MNTB) where the Calyx of Held synapses. We measured number of mature oligodendrocytes (OL) and oligodendrocyte precursor cells (OPCs) to determine if changes in myelination were due to changes in the number of myelinating or immature glial cells. The two microscopy techniques (EM and CARS) showed a decrease in fiber diameter in FXS mice. Additionally, EM results indicated reductions in myelin thickness and axon diameter, and an increase in g-ratio, a measure of structural and functional myelination. Lastly, we showed an increase in both OL and OPCs in MNTB sections of FXS mice suggesting that the myelination phenotype is not due to an overall decrease in number of myelinating OLs. This is the first study to show that a myelination defects in the auditory brainstem that may underly auditory phenotypes in FXS.
Lien vers le texte intégral (Open Access ou abonnement)
11. Mothersill D, Loughnane G, Grasso G, Hargreaves A. Knowledge, attitudes, and behaviours towards schizophrenia, bipolar disorder, and autism: a pilot study. Irish journal of psychological medicine. 2021: 1-7.
OBJECTIVES: Lack of knowledge and discriminatory attitudes and behaviours towards individuals with mental disorders is a worldwide problem but may be particularly damaging for young people. This pilot study examined knowledge, attitudes and behaviours towards schizophrenia, bipolar disorder and autism within a large sample of adults in Ireland, a country with the youngest population in Europe, in order to better understand public views on these groups. METHODS: In a correlational, cross-sectional design, 307 adults in Ireland over the age of 18 completed a questionnaire over Google Forms examining knowledge, attitudes and behaviours towards schizophrenia, bipolar disorder and autism. Responses to questions specifically relating to each diagnosis were compared using trimmed mean ANOVA to examine whether responses to questions differed depending on diagnosis. RESULTS: Results indicate varied knowledge, attitudes and behaviours towards these groups, but a majority believe it should be a research priority. ANOVA and post hoc tests revealed significant differences in knowledge, attitudes and behaviours towards each of schizophrenia, bipolar disorder, and autism (p < 0.005), and reported attitudes and behaviours towards schizophrenia were more negative than either bipolar disorder or autism. A majority of participants (54.8%) felt not informed enough about mental health by the media. CONCLUSIONS: In our Irish sample, type and level of stigma varies according to mental health diagnosis. Our sample also report feeling inadequately informed about mental health by the media. Thus future policy and campaigns could consider targeting individual mental health diagnoses, with a focus on increasing familiarity and knowledge.
Lien vers le texte intégral (Open Access ou abonnement)
12. Nishigori H, Obara T, Nishigori T, Ishikuro M, Tatsuta N, Sakurai K, Saito M, Sugawara J, Arima T, Nakai K, Mano N, Metoki H, Kuriyama S, Yaegashi N. Prenatal folic acid supplementation and autism spectrum disorder in 3-year-old offspring: the Japan environment and children’s study. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstet. 2021: 1-10.
OBJECTIVE: We evaluated the relationship between prenatal folic acid supplementation and autism spectrum disorder (ASD) in 3-year-old offspring. METHODS: We used data from the Japan Environment and Children’s Study, a nationwide prospective birth cohort study. We analyzed the data to determine the association between folic acid supplement use and the incidence of ASD in offspring, and classified participants into three groups based on the time of initiation of folic acid supplementation, as follows: (1) preconception users of folic acid supplements and (2) post-conception users, and (3) non-users. The dietary folate intake of study participants was also classified into three groups (<200 µg, 200 µg to <400 µg, ≥400 µg). RESULTS: Overall, 361 offspring of 96,931 participants with single pregnancies were diagnosed with ASD (0.37%). A total of 7,046 participants (7.3%) used folic acid supplements before conception, 29,984 (30.9%) took them after detection of pregnancy, and 59,901 (61.8%) never received them. Multivariate logistic regression analyses demonstrated no association between prenatal folic acid supplementation and ASD in offspring (preconception use: adjusted odds ratio [AOR], 1.189; 95% confidence interval [CI], 0.819-1.727 and post-conception use: AOR, 1.072; 95% CI, 0.840-1.368); additionally, no association was observed with the use of folic acid supplements and/or multivitamin supplements (preconception use: AOR, 1.273; 95% CI, 0.921-1.760 and post-conception use: AOR, 1.132; 95% CI, 0.885-1.449). Moreover, no significant association was observed in participants with combined prenatal supplement use and dietary folate intake. CONCLUSIONS: Maternal use of folic acid supplements from the pre- or post-conception period was not significantly associated with ASD in 3-year-old offspring in Japan. Evaluation of the dietary folate intake from preconception also showed no significant association.
Lien vers le texte intégral (Open Access ou abonnement)
13. Proteau-Lemieux M, Knoth IS, Agbogba K, Côté V, Barlahan Biag HM, Thurman AJ, Martin CO, Bélanger AM, Rosenfelt C, Tassone F, Abbeduto LJ, Jacquemont S, Hagerman R, Bolduc F, Hessl D, Schneider A, Lippé S. EEG Signal Complexity Is Reduced During Resting-State in Fragile X Syndrome. Frontiers in psychiatry. 2021; 12: 716707.
Introduction: Fragile X syndrome (FXS) is a genetic disorder caused by a mutation of the fragile X mental retardation 1 gene (FMR1). FXS is associated with neurophysiological abnormalities, including cortical hyperexcitability. Alterations in electroencephalogram (EEG) resting-state power spectral density (PSD) are well-defined in FXS and were found to be linked to neurodevelopmental delays. Whether non-linear dynamics of the brain signal are also altered remains to be studied. Methods: In this study, resting-state EEG power, including alpha peak frequency (APF) and theta/beta ratio (TBR), as well as signal complexity using multi-scale entropy (MSE) were compared between 26 FXS participants (ages 5-28 years), and 7 neurotypical (NT) controls with a similar age distribution. Subsequently a replication study was carried out, comparing our cohort to 19 FXS participants independently recorded at a different site. Results: PSD results confirmed the increased gamma, decreased alpha power and APF in FXS participants compared to NT controls. No alterations in TBR were found. Importantly, results revealed reduced signal complexity in FXS participants, specifically in higher scales, suggesting that altered signal complexity is sensitive to brain alterations in this population. The replication study mostly confirmed these results and suggested critical points of stagnation in the neurodevelopmental curve of FXS. Conclusion: Signal complexity is a powerful feature that can be added to the electrophysiological biomarkers of brain maturation in FXS.
Lien vers le texte intégral (Open Access ou abonnement)
14. Schütz M, Boxhoorn S, Mühlherr AM, Mössinger H, Freitag CM, Luckhardt C. Intention Attribution in Children and Adolescents with Autism Spectrum Disorder: An EEG Study. Journal of autism and developmental disorders. 2021.
The ability to infer intentions from observed behavior and predict actions based on this inference, known as intention attribution (IA), has been hypothesized to be impaired in individuals with autism spectrum disorder (ASD). The underlying neural processes, however, have not been conclusively determined. The aim of this study was to examine the neural signature of IA in children and adolescents with ASD, and to elucidate potential links to contextual updating processes using electroencephalography. Results did not indicate that IA or early contextual updating was impaired in ASD. However, there was evidence of aberrant processing of expectation violations in ASD, particularly if the expectation was based on IA. Results are discussed within the context of impaired predictive coding in ASD.
Lien vers le texte intégral (Open Access ou abonnement)
15. Sellick T, Ure A, Williams K. Repetitive and restricted behaviours and anxiety in autism spectrum disorder: protocol for a systematic review and meta-analysis. Systematic reviews. 2021; 10(1): 303.
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined by persistent deficits in social functioning and the presence of restricted and repetitive behaviours (RRBs). RRBs refer to four subtypes of behaviour including repetitive movements, speech, or use of objects; insistence on sameness; restricted interests; and sensory processing abnormalities. Many individuals with ASD also experience anxiety, which compounds ASD-related difficulties and inhibits daily functioning. RRBs have been found to be positively associated with anxiety; however, our understanding of the interplay between RRB subtypes and anxiety remains unclear. Thus, the current review aims to clarify the association between RRBs and anxiety by conducting a systematic review and meta-analysis. METHODS: To identify relevant studies, we will search five databases: CINAHL Plus, Cochrane Central Register of Controlled Trials, Ovid MEDLINE, PsycINFO, and Scopus. Articles included in the review will have their titles, abstracts, and full texts reviewed by two independent authors and their methodological quality assessed via the modified Newcastle-Ottawa Scale. Random-effects meta-analyses will then be conducted to calculate the pooled association between RRB subtypes and anxiety. Sensitivity analyses will also be conducted to assess the potential impact of bias, missing data, outliers, and methodological differences on this relationship. Additionally, this review will collate the factors which may influence the anxiety-RRB relationship to help identify who is most vulnerable to developing anxiety. DISCUSSION: This will be the first review to examine the association between the four subtypes of RRBs and anxiety in individuals with ASD. Understanding this relationship, and the factors associated with this, may help clinicians understand the different underpinnings and presentations of anxiety within this population with potential implications for assessment and treatment. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42020185434.
Lien vers le texte intégral (Open Access ou abonnement)
16. Shah J, Patel H, Jain D, Sheth F, Sheth H. A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome. BMC neurology. 2021; 21(1): 469.
BACKGROUND: Rett syndrome (RTT) is characterized by a normal perinatal period with a normal head size at birth followed by normal development for the first 6 months of life followed by gradual deceleration of head growth, loss of acquired purposeful hand skills, severe expressive and receptive language impairment, severe intellectual disability and gait and truncal apraxia/ ataxia. It is caused due to mutations in the MECP2 gene and follows an X-linked dominant mode of inheritance. It was observed exclusively in females and was believed to be lethal in males. In contrast to this belief, several males were identified with RTT upon genetic analysis, however, most males expired by the age of 2 years due to neonatal encephalopathy. The ones that survived beyond the age of 2 years, were attributed to the presence of an extra X chromosome (co-occurrence of Klinefelter and RTT) or the ones having mosaic cell lines. Only 11 males with somatic mosaicism are known till date. CASE PRESENTATION: This case reports an ultra-rare case of a male affected with RTT surviving beyond the age of 2 years due to post-zygotic de novo somatic mosaicism. He was identified with a known pathogenic variant c.538C > T (p.R180*), which to the best of our knowledge is exclusively seen in females and has never been reported in a male before. CONCLUSION: The present case is the first report of a mosaic male affected with RTT from India. The present report also carried out genotype-phenotype correlations across surviving mosaic males with RTT. We also postulate the effect of variant type, position along the gene and the variant allele fraction in different tissue types to be correlated with disease severity.
Lien vers le texte intégral (Open Access ou abonnement)
17. Shaw SCK, Grosjean B, McCowan S, Kinnear M, Doherty M. Autistic role modelling in medical education. Education for primary care : an official publication of the Association of Course Organisers, National Association of GP Tutors, World Organisation of Family Doctors. 2022; 33(2): 128-9.
Lien vers le texte intégral (Open Access ou abonnement)
18. Wang L, Chen M, Yan G, Zhao S. DNA Methylation Differences Between Zona Pellucida-Bound and Manually Selected Spermatozoa Are Associated With Autism Susceptibility. Frontiers in endocrinology. 2021; 12: 774260.
Children conceived through intracytoplasmic sperm injection (ICSI) have been reported to have a higher risk of many abnormalities and disorders, including autism and intellectual disability, which may be due to bypassing of the natural sperm selection process during ICSI. Zona pellucida (ZP)-bound spermatozoa (ZPBS) have normal morphology and nuclear DNA. Using these spermatozoa for ICSI results in better outcomes compared with conventional ICSI. However, differences besides morphology that exist between sperm selected by ZP and by an embryologist and whether these differences affect the risk of autism in offspring after ICSI are unclear. To explore these questions, we compared genome-wide DNA methylation profiles between ZPBS and manually selected spermatozoa (MSS)using single-cell bisulfite sequencing. Global DNA methylation levels were significantly lower in ZPBS than in MSS. Using gene ontology (GO) analysis, genes overlapping differentially methylated regions (DMRs) were enriched in biological processes involving neurogenesis. Furthermore, we found that 47.8% of autism candidate genes were associated with DMRs, compared with 37.1% of matched background genes (P<0.001). This was mainly because of the high proportion of autism candidate genes with bivalent chromatin structure. In conclusion, bivalent chromatin structure results in large differences in the methylation of autism genes between MSS and ZPBS. ICSI using MSS, which increases the risk of methylation mutations compared with ZPBS, may lead to a higher risk of autism in offspring.
Lien vers le texte intégral (Open Access ou abonnement)
19. Wilson JC, Andrassy B. Breastfeeding Experiences of Autistic Women. MCN The American journal of maternal child nursing. 2022; 47(1): 19-24.
PURPOSE: The purpose of this study was to explore the experiences of autistic women who breastfed. STUDY DESIGN AND METHODS: We used a qualitative phenomenology design and a thematic analysis method. Semistructured interviews were conducted using a purposive sample from social media support groups for autistic adults. The interview involved one overarching question about their breastfeeding experience. RESULTS: Twenty-three autistic women who breastfed their infant(s) participated in our study. Three main themes were identified including intense sensory perception, focused determination, and one size doesn’t fit all. Three subthemes helped to describe intense sensory perception: overstimulated, overtouched, and overwhelmed. CLINICAL IMPLICATIONS: Autistic adults can have social interaction and expressive communication differences. Nurses can promote positive communication and provide appropriate care through supportive action. These findings offer a guide for nurses to better understand the experiences of autistic breastfeeding women.