1. Barrea C, Leroy P, Debray FG, Alkan S, Rousselle L. {{Comment j’explore… un trouble du développement intellectuel chez l’enfant}}. {Revue medicale de Liege}. 2020; 75(10): 686-91.
Global developmental delay (GDD) and intellectual development disorder (IDD) are common but heterogeneous pediatric conditions. Guided by a rigorous clinical and anamnestic examination, the diagnostic approach is a dynamic process which is not limited to the intelligence quotient measurement. A large panel of paraclinical tests allows etiological exploration; this generally includes biological, genetic, metabolic and iconographic examinations. To maximize therapeutic efficiency and standardize practices, this document provides a guideline for the management of pediatric GDD/IDD.
2. Batebi N, Moghaddam HS, Hasanzadeh A, Fakour Y, Mohammadi MR, Akhondzadeh S. {{Folinic Acid as Adjunctive Therapy in Treatment of Inappropriate Speech in Children with Autism: A Double-Blind and Placebo-Controlled Randomized Trial}}. {Child Psychiatry Hum Dev}. 2020.
This is a double-blind, placebo-controlled randomized trial to investigate the potential therapeutic effects of folinic acid/placebo as an adjuvant to risperidone on inappropriate speech and other behavioral symptoms of autism spectrum disorder (ASD). Fifty-five ASD children (age (mean ± standard deviation) = 13.40 ± 2.00; male/female: 35/20) were evaluated for behavioral symptoms at baseline, week 5, and week 10 using the aberrant behavior checklist-community (ABC-C). Folinic acid dosage was 2 mg/kg up to 50 mg per day for the entire course of the study. The repeated measures analysis showed significant effect for time × treatment interaction on inappropriate speech (F = 3.51; df = 1.61; P = 0.044), stereotypic behavior (F = 4.02; df = 1.37; P = 0.036), and hyperactivity/noncompliance (F = 6.79; df = 1.66; P = 0.003) subscale scores. In contrast, no significant effect for time × treatment interaction was found on lethargy/social withdrawal (F = 1.06; df = 1.57; P = 0.336) and irritability (F = 2.86; df = 1.91; P = 0.064) subscale scores. Our study provided preliminary evidence suggesting that folinic acid could be recommended as a beneficial complementary supplement for alleviating speech and behavioral symptoms in children with ASD.Clinical trial registeration: This trial was registered in the Iranian Registry of Clinical Trials ( www.irct.ir ; No. IRCT20090117001556N114).
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3. Bernie C, Williams K, O’Connor B, Rogers S, May T. {{Referral, Assessment and Use of Screening Measures Related to Autism Spectrum Disorder at a Tertiary Hospital Setting}}. {J Autism Dev Disord}. 2020.
Children with developmental concerns in Australia continue to experience inequitable healthcare and service-related delays, even when diagnostic risk is identified. This study sought to explore service and demographic pathway factors leading up to autism spectrum disorder (ASD) assessment, including value of screening measures applied at triage. Following a trial of centralised intake for referred young children with suspected ASD, observational, retrospective pathway data was explored using bivariate and regression analyses. The mean age of 159 children referred with autism symptoms was 3.6 years, and 64% were diagnosed with ASD. Service allocation was associated with diagnosis, whilst screening tool results were not. Improved pathways are needed to limit wasted waiting times and direct each child to needs-based services.
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4. Bradley VJ. {{How COVID-19 May Change the World of Services to People With Intellectual and Developmental Disabilities}}. {Intellectual and developmental disabilities}. 2020; 58(5): 355-60.
The COVID-19 epidemic caused disruption and dislocation in the lives of people with disabilities, their families, and providers. What we have learned during this period regarding the strengths and weaknesses of the service system for people with disabilities should provide a roadmap for building a more robust and agile system going forward. Based on a canvas of leaders in our field, I propose a way of outlining a reimagined system.
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5. Byrne G, Longphuirt EN. {{The psychological impact of quarantine on children with autism spectrum disorder}}. {Irish journal of psychological medicine}. 2020: 1-4.
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6. Calderoni S, Ricca I, Balboni G, Cagiano R, Cassandrini D, Doccini S, Cosenza A, Tolomeo D, Tancredi R, Santorelli FM, Muratori F. {{Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study}}. {Journal of personalized medicine}. 2020; 10(4).
Autism spectrum disorders (ASD) encompass a heterogeneous group of neurodevelopmental disorders resulting from the complex interaction between genetic and environmental factors. Thanks to the chromosome microarray analysis (CMA) in clinical practice, the accurate identification and characterization of submicroscopic deletions/duplications (copy number variants, CNVs) associated with ASD was made possible. However, the widely acknowledged excess of males on the autism spectrum reflects on a paucity of CMA studies specifically focused on females with ASD (f-ASD). In this framework, we aim to evaluate the frequency of causative CNVs in a single-center cohort of idiopathic f-ASD. Among the 90 f-ASD analyzed, we found 20 patients with one or two potentially pathogenic CNVs, including those previously associated with ASD (located at 16p13.2 16p11.2, 15q11.2, and 22q11.21 regions). An exploratory genotype/phenotype analysis revealed that the f-ASD with causative CNVs had statistically significantly lower restrictive and repetitive behaviors than those without CNVs or with non-causative CNVs. Future work should focus on further understanding of f-ASD genetic underpinnings, taking advantage of next-generation sequencing technologies, with the ultimate goal of contributing to precision medicine in ASD.
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7. Cantin-Garside KD, Srinivasan D, Ranganathan S, White SW, Nussbaum MA. {{Multi-level modeling with nonlinear movement metrics to classify self-injurious behaviors in autism spectrum disorder}}. {Sci Rep}. 2020; 10(1): 16699.
Self-injurious behavior (SIB) is among the most dangerous concerns in autism spectrum disorder (ASD), often requiring detailed and tedious management methods. Sensor-based behavioral monitoring could address the limitations of these methods, though the complex problem of classifying variable behavior should be addressed first. We aimed to address this need by developing a group-level model accounting for individual variability and potential nonlinear trends in SIB, as a secondary analysis of existing data. Ten participants with ASD and SIB engaged in free play while wearing accelerometers. Movement data were collected from > 200 episodes and 18 different types of SIB. Frequency domain and linear movement variability measures of acceleration signals were extracted to capture differences in behaviors, and metrics of nonlinear movement variability were used to quantify the complexity of SIB. The multi-level logistic regression model, comprising of 12 principal components, explained > 65% of the variance, and classified SIB with > 75% accuracy. Our findings imply that frequency-domain and movement variability metrics can effectively predict SIB. Our modeling approach yielded superior accuracy than commonly used classifiers (~ 75 vs. ~ 64% accuracy) and had superior performance compared to prior reports (~ 75 vs. ~ 69% accuracy) This work provides an approach to generating an accurate and interpretable group-level model for SIB identification, and further supports the feasibility of developing a real-time SIB monitoring system.
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8. Ceylan MF, Tural Hesapcioglu S, Yavas CP, Senat A, Erel O. {{Serum Is-Modified Albumin Levels, Myeloperoxidase Activity and Peripheral Blood Mononuclear Chemia cells in Autism Spectrum Disorder (ASD)}}. {J Autism Dev Disord}. 2020.
Genetic, neurobiological, neurochemical, environmental factors and their interactions contribute to autism phenotypes. Blood from 48 (age range: 4-17) autism spectrum disorder diagnosed patients (ASD) and 38 age- and gender-matched healthy control subjects was analyzed for numbers of neutrophils, lymphocytes, monocytes, albumin, serum Ischemia-Modified Albumin (IMA) levels and myeloperoxidase activity. The serum IMA levels, myeloperoxidase activity and peripheral blood mononuclear cells count were significantly higher in ASD cases than in the control subjects. There were no significant differences in albumin levels between the patient and control groups. These results suggest that the immune system, oxidative stress and myeloperoxidase activity may be activated in ASD. There is a clinical benefit from the early detection of ASD using myeloperoxidase activity, IMA levels and monocyte counts.
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9. Cheak-Zamora N, Farmer JG, Crossman MK, Malow BA, Mazurek MO, Kuhlthau K, Stobbe G, Loftin R, Mirza-Agrawal M, Tapia M, Hess A, Davis K, Sohl K. {{Provider Perspectives on the Extension for Community Healthcare Outcomes Autism: Transition to Adulthood Program}}. {J Dev Behav Pediatr}. 2020.
OBJECTIVE: Despite their complex health care needs, transition-aged youth diagnosed with autism spectrum disorder (TAY-ASD) receive few transition services and describe difficulty finding adult providers. A 12-week primary care provider (PCP) training was developed to improve the delivery of transition services for TAY-ASD [Extension for Community Healthcare Outcomes (ECHO) Autism: Transition to Adulthood program]. The current study examines the PCPs’ perspectives and experiences of the program and application of the training material. METHODS: This study used a qualitative descriptive framework to explore the experiences and perspectives of 10 PCPs who completed the ECHO Autism: Transition to Adulthood program. Semistructured focus groups, conducted through Zoom videoconferencing, were used to explore these topics. RESULTS: Three overarching categories were identified: (1) beneficial and influential aspects of the ECHO, (2) perceived challenges, and (3) suggestions for improvements and adjustments. Overall, participants found the program highly beneficial, describing an increased sense of community and comprehensive recommendations from a multidisciplinary team. Challenges included difficulties participating in the program during clinical hours and difficulties meeting the educational needs of participants with a wide range of previous experience caring for TAY-ASD. Recommendations included embedding the location-specific material into the program to account for regional differences and the use of an online platform for participants to ask questions and discuss issues outside of the regular sessions. CONCLUSION: The study results can inform the development and implementation of new virtual PCP trainings and future ECHOs, including the revision and broad implementation of the ongoing ECHO Autism: Transition to Adulthood program.
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10. Ellis Weismer S, Rubenstein E, Wiggins L, Durkin MS. {{A Preliminary Epidemiologic Study of Social (Pragmatic) Communication Disorder Relative to Autism Spectrum Disorder and Developmental Disability Without Social Communication Deficits}}. {J Autism Dev Disord}. 2020.
The goal of this preliminary investigation was to compare demographic and clinical characteristics in a sample of children with likely Social (Pragmatic) Communication Disorder (SCD) (N = 117) to those in children with possible (N = 118) and some (N = 126) SCD traits, other developmental delay (DD) (N = 91) and autism spectrum disorder (ASD) (N = 642). We used data from the Study to Explore Early Development (SEED), a multi-site case-control study. Items reflecting SCD DSM-5 criteria were selected from an autism diagnostic measure, with SCD categories identified by creating quartiles. Our results suggest that SCD may fall along a continuum involving elevated deficits (in comparison to DD with no SCD) in social communication and restricted and repetitive behavior that do not reach the clinical threshold for ASD.
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11. Ersoy M, Charman T, Pasco G, Carr E, Johnson MH, Jones EJH. {{Developmental Paths to Anxiety in an Autism-Enriched Infant Cohort: The Role of Temperamental Reactivity and Regulation}}. {J Autism Dev Disord}. 2020.
The aim of this study was to explore the associations between temperamental reactivity and regulation and the emergence of anxiety traits in a longitudinal sample of infants enriched for later ASD. Parents of 143 infants who were at high- and low-risk for ASD rated their child’s temperament traits when they were 9, 15 and 24 months old; they rated anxiety and ASD traits when they were 36 months old. The findings suggest that behavioural inhibition may be an early predictor of later anxiety in children with and without ASD and that lower levels of effortful control in children who later develop ASD may contribute to the higher expression of anxiety within this population.
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12. Gómez LE, Morán ML, Alcedo M, Arias VB, Verdugo M. {{Addressing Quality of Life of Children With Autism Spectrum Disorder and Intellectual Disability}}. {Intellectual and developmental disabilities}. 2020; 58(5): 393-408.
Despite the advances on the assessment of quality of life, this concept is barely studied and is riddled with important limitations for those with autism spectrum disorder (ASD). This article is aimed at validating a questionnaire to assess quality of life of children with ASD and intellectual disability (ID). Based on the KidsLife Scale, geared toward people with ID, the most reliable items for those with ASD were selected. Study participants were 420 persons, from 4 to 21 years old. Results indicated that the KidsLife-ASD Scale measured eight intercorrelated domains, had good reliability, and exhibited adequate evidences of validity. KidsLife-ASD emerges as a helpful tool to guide person-centered planning addressed at improving quality of life.
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13. Goris J, Silvetti M, Verguts T, Wiersema JR, Brass M, Braem S. {{Autistic traits are related to worse performance in a volatile reward learning task despite adaptive learning rates}}. {Autism}. 2020: 1362361320962237.
Recent theories propose that autism is characterized by an impairment in determining when to learn and when not. Here, we investigated this hypothesis by estimating learning rates (i.e. the speed with which one learns) in three different environments that differed in rule stability and uncertainty. We found that neurotypical participants with more autistic traits performed worse in a volatile environment (with unstable rules), as they chose less often for the most rewarding option. Exploratory analyses indicated that performance was specifically worse when reward rules were opposite to those initially learned for participants with more autistic traits. However, there were no differences in the adjustment of learning rates between participants with more versus less autistic traits. Together, these results suggest that performance in volatile environments is lower in participants with more autistic traits, but that this performance difference cannot be unambiguously explained by an impairment in adjusting learning rates.
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14. Holingue C, Kalb LG, Klein A, Beasley JB. {{Experiences With the Mental Health Service System of Family Caregivers of Individuals With an Intellectual/Developmental Disability Referred to START}}. {Intellectual and developmental disabilities}. 2020; 58(5): 379-92.
People with intellectual and developmental disabilities (IDD) frequently have behavioral or mental health needs, but experience obstacles to treatment. Family caregivers are often responsible for coordinating the care of individuals with IDD. This study examined family caregiver experiences using intake data from a national tertiary crisis intervention model designed for people with IDD and mental health needs. Caregivers (n = 488) completed the Family Experiences Interview Schedule. Less than half of families reported satisfaction with the mental health services received. Notable gaps were in crisis, night and weekend services, choice of services and providers, communication and coordination between providers, and specialized training. Experiences were worse for caregiving fathers and individuals with IDD with co-occurring chronic medical conditions.
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15. Macoun SJ, Schneider I, Bedir B, Sheehan J, Sung A. {{Pilot Study of an Attention and Executive Function Cognitive Intervention in Children with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2020.
This pilot study investigated the efficacy of a game-based cognitive training program (Caribbean Quest; CQ) for improving attention and executive function (EF) in school-aged children with Autism Spectrum Disorder (ASD). CQ is a ‘serious game’ that uses a hybrid process-specific/compensatory approach to remediate attention and EF abilities through repetitive, hierarchically graded exercises delivered in an adaptive format. Game-play is accompanied by instruction in metacognitive strategies delivered by an adult trainer. Twenty children diagnosed with ASD (ages 6-12 years) completed 12 h of intervention in schools over 8-10 weeks that was facilitated by a trained Research Assistant. Pre-post testing indicated near transfer gains for visual working memory and selective attention and far transfer effects for math fluency. Exit interviews with parents and school staff indicated anecdotal gains in attention, EF, emotion-regulation, flexibility, communication, and social skills. Overall, this study provides preliminary support for the feasibility and potential efficacy of the CQ when delivered in schools to children with ASD.
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16. Nowell KP, Bernardin CJ, Brown C, Kanne S. {{Characterization of Special Interests in Autism Spectrum Disorder: A Brief Review and Pilot Study Using the Special Interests Survey}}. {J Autism Dev Disord}. 2020.
Special interests (SIs) are part of the diagnostic criteria for autism spectrum disorder (ASD). Though they can have both positive and negative effects on functioning and long-term outcomes, research on SIs is limited. This pilot study used a newly developed parent-report measure, the Special Interest Survey, to characterize SIs in 1992 children with ASD. The mean number of current special interests reported was 9, with television, objects, and music being most commonly endorsed interests. The mean age of onset reported across all categories was 5.24 years, with duration of past interests most often exceeding 2 years. Age of onset, interference, and relative unusualness of the SI was varied across categories. Interference was significantly correlated with the unusualness of the SIs.
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17. Oakley BFM, Jones EJH, Crawley D, Charman T, Buitelaar J, Tillmann J, Murphy DG, Loth E. {{Alexithymia in autism: cross-sectional and longitudinal associations with social-communication difficulties, anxiety and depression symptoms}}. {Psychological medicine}. 2020: 1-13.
BACKGROUND: Alexithymia (difficulties in identifying and describing emotion) is a transdiagnostic trait implicated in social-emotional and mental health problems in the general population. Many autistic individuals experience significant social-communication difficulties and elevated anxiety/depression and alexithymia. Nevertheless, the role of alexithymia in explaining individual variability in the quality/severity of social-communication difficulties and/or anxiety and depression symptoms in autism remains poorly understood. METHODS: In total, 337 adolescents and adults (autism N = 179) were assessed for alexithymia on the Toronto Alexithymia Scale and for social-communication difficulties, anxiety and depression symptoms. A total of 135 individuals (autism N = 76) were followed up 12-24 months later. We used regression models to establish cross-sectional and longitudinal associations between alexithymia, social-communication difficulties, anxiety and depression symptoms. RESULTS: Autistic individuals reported significantly higher alexithymia than comparison individuals (p < 0.001, r effect size = 0.48), with 47.3% of autistic females and 21.0% of autistic males meeting cut-off for clinically relevant alexithymia (score ⩾61). Difficulties in describing feelings were particularly associated with current self-reported social-communication difficulties [p < 0.001, β = 0.57, 95% confidence interval (CI) 0.44-0.67] and predicted later social-communication difficulties (p = 0.02, β = 0.43, 95% CI 0.07-0.82). Difficulties in identifying feelings were particularly associated with current anxiety symptom severity (p < 0.001, β = 0.54, 95% CI 0.41-0.77) and predicted later anxiety (p = 0.01; β = 0.31, 95% CI 0.08-0.62). CONCLUSIONS: Our findings suggest that difficulties in identifying v. describing emotion are associated with differential clinical outcomes in autism. Psychological therapies targeting emotional awareness may improve social-communication and anxiety symptoms in autism, potentially conferring long-term benefits. Lien vers le texte intégral (Open Access ou abonnement)
18. 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.
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19. Rosales MK, Wilder DA, Montalvo M, Fagan B. {{Evaluation of the high-probability instructional sequence to increase compliance with multiple low-probability instructions among children with autism}}. {Journal of applied behavior analysis}. 2020.
The high-probability (high-p) instructional sequence typically consists of the delivery of a series of high-p instructions immediately followed by the delivery of a low-probability (low-p) instruction and is a commonly used procedure to increase compliance among children with intellectual disabilities. In the current study, we used withdrawal designs to evaluate the use of the high-p sequence to increase compliance with a series of 2 or 3 low-p instructions among 3 children with autism. The sequence was moderately effective in increasing compliance with all low-p instructions for 2 participants. Compliance exhibited by the 3rd participant, for whom the high-p sequence was ineffective, increased when differential reinforcement was delivered. We discuss the utility of the high-p sequence to increase compliance with multiple instructions and the putative mechanisms responsible for the effects of the sequence.
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20. Schladant M, Dowling M. {{Parent Perspectives on Augmentative and Alternative Communication Integration for Children With Fragile X Syndrome: It Starts in the Home}}. {Intellectual and developmental disabilities}. 2020; 58(5): 409-21.
Many children with fragile X syndrome (FXS) have complex communication needs and may benefit from augmentative and alternative communication (AAC). This qualitative study explored how four mother-child dyads used AAC in the home. Data were collected using participant observations, open-ended interviews, and record reviews, and analyzed using grounded theory methods. Findings revealed that mothers found AAC to be a useful tool for addressing their children’s complex communication needs, but practical and personal factors impacted its use in the home. This study sheds light on how mothers of children with FXS view and utilize AAC as a way to promote communication at home. Understanding parental perspectives can help to guide professionals in planning appropriate AAC interventions specific to FXS.
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21. Simmons GL, Ioannou S, Smith JV, Corbett BA, Lerner MD, White SW. {{Utility of an Observational Social Skill Assessment as a Measure of Social Cognition in Autism}}. {Autism Res}. 2020.
Models of impaired social competence in autism spectrum disorder (ASD) highlight deficits in social cognition and social behavior. The Contextual Assessment of Social Skills (CASS) is a laboratory-based assessment of conversation ability in which participants interact with trained confederates who act interested (CASS-I) and bored (CASS-B), sequentially. The increased ecological validity of the CASS allows for better generalization to real-world social situations. Participants’ perceptions of confederate behavior, assessed by the CASS Conversation Rating Scale (CRS), might offer additional utility as a metric of social cognition. The current study examined CASS confederate behavior (adherence to interested or bored condition) and both internal validity and convergent validity of the CASS as a measure of social behavior and social cognition. Fifty adolescents with ASD participated as part of a multisite randomized clinical trial. Adherence ratings were consistent across gender and site, with interested confederates significantly out-performing bored confederates. The ability to distinguish between interested and bored confederates was positively associated with CASS social behavior and social cognition tasks, although social behavior during the CASS was not consistently associated with parent-rated social behavior. Controlling for confederate behavior did not significantly alter these associations. Findings demonstrate strong internal validity of the CASS and, partially, external validity of the CASS as a measure of social cognition. Findings highlight nuanced differences in social behavior and social cognition. The CASS shows promise as an outcome measure for clinical interventions and should be incorporated into a multimethod battery to assess social competence in individuals with ASD. LAY SUMMARY: Social cognition and social behavior should be studied together to examine social competence in youth with autism. The Contextual Assessment of Social Skills (CASS), a behavioral observation measure, shows promise toward this end; findings suggest the CASS taps social cognition and social behavior when administered alongside a participant rating scale of their conversation partner’s engagement. Continued research, including examination of the CASS, may inform best practices in comprehensive assessment of social competence in autism.
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22. Wong H, Hooper AWM, Niibori Y, Lee SJ, Hategan LA, Zhang L, Karumuthil-Melethil S, Till SM, Kind PC, Danos O, Bruder JT, Hampson DR. {{Sexually dimorphic patterns in electroencephalography power spectrum and autism-related behaviors in a rat model of fragile X syndrome}}. {Neurobiology of disease}. 2020; 146: 105118.
Fragile X syndrome (FXS), a neurodevelopmental disorder with autistic features, is caused by the loss of the fragile X mental retardation protein. Sex-specific differences in the clinical profile have been observed in FXS patients, but few studies have directly compared males and females in rodent models of FXS. To address this, we performed electroencephalography (EEG) recordings and a battery of autism-related behavioral tasks on juvenile and young adult Fmr1 knockout (KO) rats. EEG analysis demonstrated that compared to wild-type, male Fmr1 KO rats showed an increase in gamma frequency band power in the frontal cortex during the sleep-like immobile state, and both male and female KO rats failed to show an increase in delta frequency power in the sleep-like state, as observed in wild-type rats. Previous studies of EEG profiles in FXS subjects also reported abnormally increased gamma frequency band power, highlighting this parameter as a potential translatable biomarker. Both male and female Fmr1 KO rats displayed reduced exploratory behaviors in the center zone of the open field test, and increased distance travelled in an analysis of 24-h home cage activity, an effect that was more prominent during the nocturnal phase. Reduced wins against wild-type opponents in the tube test of social dominance was seen in both sexes. In contrast, increased repetitive behaviors in the wood chew test was observed in male but not female KO rats, while increased freezing in a fear conditioning test was observed only in the female KO rats. Our findings highlight sex differences between male and female Fmr1 KO rats, and indicate that the rat model of FXS could be a useful tool for the development of new therapeutics for treating this debilitating neurodevelopmental disorder.
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23. Zafarullah M, Jasoliya M, Tassone F. {{Urine-Derived Epithelial Cell Lines: A New Tool to Model Fragile X Syndrome (FXS)}}. {Cells}. 2020; 9(10).
Fragile X syndrome (FXS) is an X-linked neurodevelopmental condition associated with intellectual disability and behavioral problems due to the lack of the Fragile X mental retardation protein (FMRP), which plays a crucial role in synaptic plasticity and memory. A desirable in vitro cell model to study FXS would be one that can be generated by simple isolation and culture method from a collection of a non-invasive donor specimen. Currently, the various donor-specific cells can be isolated mainly from peripheral blood and skin biopsy. However, they are somewhat invasive methods for establishing cell lines from the primary subject material. In this study, we characterized a cost-effective and straightforward method to derive epithelial cell lines from urine samples collected from participants with FXS and healthy controls (TD). The urine-derived cells expressed epithelial cell surface markers via fluorescence-activated cell sorting (FACS). We observed inter, and the intra-tissue CGG mosaicism in the PBMCs and the urine-derived cells from participants with FXS potentially related to the observed variations in the phenotypic and clinical presentation FXS. We characterized these urine-derived epithelial cells for FMR1 mRNA and FMRP expression and observed some expression in the lines derived from full mutation mosaic participants. Further, FMRP expression was localized in the cytoplasm of the urine-derived epithelial cells of healthy controls. Deficient FMRP expression was also observed in mosaic males, while, as expected, no expression was observed in cells derived from participants with a hypermethylated full mutation.
