1. Ahmad SF, Ansari MA, Nadeem A, Bakheet SA, Al-Ayadhi LY, Attia SM. {{Upregulation of peripheral CXC and CC chemokine receptor expression on CD4(+) T cells is associated with immune dysregulation in children with autism}}. {Prog Neuropsychopharmacol Biol Psychiatry}. 2018; 81: 211-20.
Autism spectrum disorders (ASD) are characterized by disturbances in social interactions and communication, restricted repetitive interests, and stereotyped behavior. Cumulative evidence recommends that there are immune alterations in ASD. Chemokine receptors are known to play an important role in the central nervous system (CNS) and in many neuro inflammatory disorders. The main objective of this study was to explore the role of CXC and CC chemokine receptors signaling in children with autism. We examined chemokine receptor production of CXCR2, CXCR3, CXCR5, and CXCR7 in all peripheral blood mononuclear cells (PBMCs) and in CD4(+) T cells of typically developing control children (TD) and autistic children (AU). We also examined chemokine receptor production of CCR3, CCR5, CCR7, and CCR9 in all PBMCs and in CD4(+) T cells of AU and TD samples using flow cytometric analysis. In addition, we measured mRNA expression levels of CXC and CC chemokine receptors using quantitative RT-PCR analysis. Our results showed the increased production of CXCR2(+), CXCR3(+), CXCR5(+), and CXCR7(+) and CCR3(+), CCR5(+), CCR7(+), and CCR9(+) in all PBMCs and in CD4(+) T cells of children with AU as compared to TD controls. Our results show that chemokine receptor signaling components might provide unique therapeutic targets for children with AU and other neurological disorders.
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2. Anagnostou E. {{Clinical trials in autism spectrum disorder: evidence, challenges and future directions}}. {Current opinion in neurology}. 2018; 31(2): 119-25.
PURPOSE OF REVIEW: The purpose of this manuscript is to review the evidence generated by clinical trials of pharmaceuticals in autism spectrum disorder (ASD), describe challenges in the conduct of such trials, and discuss future directions RECENT FINDINGS: Clinical trials in ASD have produced several compounds to adequately support the pharmacological treatment of associated symptom domains: attention deficit hyperactivity disorder (methylphenidate, atomoxetine, and alpha agonists), irritability/aggression (risperidone and aripiprazole), sleep (melatonin), and weight gain associated with atypical antipsychotic use (metformin). However, there is no evidence yet to support the routine use of pharmaceuticals for the treatment of core symptom domains. Challenges in the field include biological heterogeneity within ASD, lack of biomarkers that clarify biological heterogeneity or predict response to treatment, lack of data across the lifespan, and suboptimal outcome measures. SUMMARY: Several compounds have evidence for the treatment of co-occurring symptoms in children and youth with ASD, although pharmacological interventions for core symptoms are still lacking. Identifying the various biologies underling ASD and developing biomarkers that stratify biologically homogeneous populations are both necessary to realize the promise of precision medicine in ASD.
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3. Archibald AD, Smith MJ, Burgess T, Scarff KL, Elliott J, Hunt CE, Barns-Jenkins C, Holt C, Sandoval K, Kumar VS, Ward L, Allen EC, Collis SV, Cowie S, Francis D, Delatycki MB, Yiu EM, Massie RJ, Pertile MD, du Sart D, Bruno D, Amor DJ. {{CORRIGENDUM: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests}}. {Genet Med}. 2018.
This corrects the article DOI: 10.1038/gim.2017.134.
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4. Bell V, Dunne H, Zacharia T, Brooker K, Shergill S. {{A symptom-based approach to treatment of psychosis in autism spectrum disorder in October 2017}}. {BJPsych open}. 2018; 4(1): 1-4.
The optimal management of autism with psychosis remains unclear. This report describes a 22-year-old man with autism and psychosis who was referred to a tertiary-level specialist psychosis service, following a 6-year history of deterioration in mental health starting around the time of sitting GCSE examinations and an episode of bullying at school. We describe the individualised symptom-based approach that was effective in his treatment. Declaration of interest The authors declare no conflict of interest.
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5. Black J, Williams D, Ferguson HJ. {{Imagining Counterfactual Worlds in Autism Spectrum Disorder}}. {Journal of experimental psychology Learning, memory, and cognition}. 2018.
Two experiments are presented that explore online counterfactual processing in autism spectrum disorder (ASD) using eye-tracking. Participants’ eye movements were tracked while they read factual and counterfactual sentences in an anomaly detection task. In Experiment 1, the sentences depicted everyday counterfactual situations (e.g., If Joanne had remembered her umbrella, her hair would have been dry/wet when she arrived home). Sentences in Experiment 2 depicted counterfactual versions of real world events (e.g., If the Titanic had not hit an iceberg, it would have survived/sunk along with all the passengers). Results from both experiments suggest that counterfactual understanding is undiminished in adults with ASD. In fact, participants with ASD were faster than Typically Developing (TD) participants to detect anomalies within realistic, discourse-based counterfactuals (Experiment 1). Detection was comparable for TD and ASD groups when understanding could be grounded in knowledge about reality (Experiment 2), though the 2 groups used subtly different strategies for responding to and recovering from counterfactual inconsistent words. These data argue against general difficulties in global coherence and complex integration in ASD. (PsycINFO Database Record
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6. Broring T, Oostrom KJ, van Dijk-Lokkart EM, Lafeber HN, Brugman A, Oosterlaan J. {{Attention deficit hyperactivity disorder and autism spectrum disorder symptoms in school-age children born very preterm}}. {Res Dev Disabil}. 2018; 74: 103-12.
BACKGROUND: Very preterm (VP) children face a broad range of neurodevelopmental sequelae, including behavioral problems. AIM: To investigate prevalence, pervasiveness and co-occurrence of symptoms of attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in school-age children born very preterm. METHODS: Using questionnaire and diagnostic interview data, parent and teacher reported symptoms of ADHD and ASD of 57 VP-children (mean age=9.2years) were compared with 57 gender and age matched full-term children using t-tests. Intra-class correlation coefficients quantified parent-teacher agreement. Correlation analysis investigated co-occurrence of ADHD/ASD symptoms. ADHD/ASD measures were aggregated using principal component analysis. Regression analyses investigated the contribution of perinatal risk factors, sex and SES to ADHD/ASD symptoms. RESULTS: VP-children showed higher levels of parent and teacher reported attention problems, social impairment and compromised communication skills. Fair to strong agreement was found between parent and teacher reported ADHD and ASD symptoms, indicating pervasiveness of observed difficulties. Co-occurrence of ADHD and ASD symptoms in VP-children was found. Lower gestational age was associated with higher ADHD and ASD symptom levels, male sex with higher ADHD symptom levels and lower SES with higher ASD symptom levels. CONCLUSION: School-age VP-children show higher levels of ADHD and ASD symptoms, and attention, socialization and communication difficulties in particular. Routinely screening for these problems is recommended in follow-up care.
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7. Delaye JB, Patin F, Lagrue E, Le Tilly O, Bruno C, Vuillaume ML, Raynaud M, Benz-De Bretagne I, Laumonnier F, Vourc’h P, Andres C, Blasco H. {{Post hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability}}. {Annals of clinical biochemistry}. 2018: 4563218760351.
Objectives Autism spectrum disorders and intellectual disability present a challenge for therapeutic and dietary management. We performed a re-analysis of plasma amino acid chromatography of children with autism spectrum disorders ( n = 22) or intellectual disability ( n = 29) to search for a metabolic signature that can distinguish individuals with these disorders from controls ( n = 30). Methods We performed univariate and multivariate analyses using different machine learning strategies, from the raw data of the amino acid chromatography. Finally, we analysed the metabolic pathways associated with discriminant biomarkers. Results Multivariate analysis revealed models to discriminate patients with autism spectrum disorders or intellectual disability and controls from plasma amino acid profiles ( P < 0.0003). Univariate analysis showed that autism spectrum disorder and intellectual disability patients shared similar differences relative to controls, including lower glutamate ( P < 0.0001 and P = 0.0002, respectively) and serine ( P = 0.002 for both) concentrations. The multivariate model ( P < 6.12.10(-7)) to discriminate between autism spectrum disorders and intellectual disability revealed the involvement of urea, 3-methyl-histidine and histidine metabolism. Biosigner analysis and univariate analysis confirmed the role of 3-methylhistidine ( P = 0.004), histidine ( P = 0.003), urea ( P = 0.0006) and lysine ( P = 0.002). Conclusions We revealed discriminant metabolic patterns between autism spectrum disorders, intellectual disability and controls. Amino acids known to play a role in neurotransmission were discriminant in the models comparing autism spectrum disorders or intellectual disability to controls, and histidine and b-alanine metabolism was specifically highlighted in the model. Lien vers le texte intégral (Open Access ou abonnement)
8. Dominick KC, Wink LK, Pedapati EV, Shaffer R, Sweeney JA, Erickson CA. {{Risperidone Treatment for Irritability in Fragile X Syndrome}}. {J Child Adolesc Psychopharmacol}. 2018.
OBJECTIVE: The goal of this study was to assess the effectiveness of risperidone monoantipsychotic therapy targeting irritability in patients with Fragile X syndrome (FXS) in a naturalistic outpatient clinical setting. METHODS: We examined the use of risperidone, predominantly in combination with other nonantipsychotic psychotropic agents, targeting irritability in 21 male patients with FXS with a retrospective analysis of a prospectively collected large developmental disabilities-specific treatment database. Mean age at start of treatment, treatment duration, final dose, body mass index (BMI), and Clinical Global Impressions-Improvement (CGI-I) Scale score at final visit were determined, and changes with treatment were analyzed using paired t-tests. RESULTS: Mean age at start of treatment was 14.0 years. The final mean dose of risperidone was 2.5 mg/day. The mean duration of treatment was 22 months. Seven (33.33%) participants were considered treatment responders based on the CGI-I. Change in BMI between initiation and cessation of treatment episode was not significant, however, these data were only available for a subset (n = 11) of patients. CONCLUSIONS: Risperidone may be effective in the treatment of irritability in males with FXS. The overall effectiveness of monoantipsychotic treatment with risperidone was limited in this study compared with previous published reports; however, this may be the result of differences in outcome measures as well as a reflection of the level of functioning and severity of irritability in this sample.
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9. Dressler PB, Nguyen TK, Moody EJ, Friedman SL, Pickler L. {{Use of Transition Resources by Primary Care Providers for Youth With Intellectual and Developmental Disabilities}}. {Intellectual and developmental disabilities}. 2018; 56(1): 56-68.
Youth with intellectual and developmental disabilities (IDD) often experience difficulties with successful transition from pediatric to adult healthcare. A consultative Transition Clinic for youth with IDD was piloted as a quality improvement project, and assessed the engagement of primary care providers (PCPs) for transition planning after patients were seen in clinic. Although many PCPs found the clinic and resources useful, individual and systemic barriers often prohibited them from participating in transition planning for this patient population. These findings highlight systemic barriers that need to be addressed to ensure successful transition, as well as the need for a specialized Transition Clinic with involvement of specialists with expertise in IDD, such as Developmental-Behavioral Pediatrics, to assist throughout transition process.
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10. Edwards AG, Brebner CM, McCormack PF, MacDougall CJ. {{From ‘Parent’ to ‘Expert’: How Parents of Children with Autism Spectrum Disorder Make Decisions About Which Intervention Approaches to Access}}. {J Autism Dev Disord}. 2018.
Parents of children with Autism Spectrum Disorder are responsible for deciding which interventions to implement with their child. There is limited research examining parental decision-making with regards to intervention approaches. A constructivist grounded theory methodology was implemented in this study. Semi-structured interviews were undertaken with 14 participants from 12 family units. Data collection and analysis occurred concurrently, allowing a grounded theory to be constructed. Parental decision-making was influenced by many factors, arranged into seven core categories (values, experience, information, motivation, understanding, needs and logistics). Decision-making evolved over time, as parents transformed from ‘parent’ to ‘expert’. The results of this study provide an insight into parental decision-making, which has implications for the support provided to parents by health professionals.
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11. Friedman C. {{Participant Direction for People With Intellectual and Developmental Disabilities in Medicaid Home and Community Based Services Waivers}}. {Intellectual and developmental disabilities}. 2018; 56(1): 30-9.
Participant direction allows people with intellectual and developmental disabilities (IDD) and/or their families to direct services; in doing so, participant direction shifts participants from passive recipients to active consumers. Medicaid encourages, but does not require, states to allow participant direction. The aim of this study was to examine if and how states permitted participant direction in Medicaid HCBS 1915(c) waivers for people with IDD. We analyzed HCBS waivers from across the country to determine frequency of participant direction, expenditures directed toward participant direction, and states’ goals for utilization of participant direction. Our findings revealed a disconnect between the large number of waivers that allowed participant direction, and states’ extremely low goals for actual utilization of participant direction.
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12. Goh DA, Gan D, Kung J, Baron-Cohen S, Allison C, Chen H, Saw SM, Chong YS, Rajadurai VS, Tan KH, Shek PCL, Yap F, Broekman BFP, Magiati I. {{Child, Maternal and Demographic Factors Influencing Caregiver-Reported Autistic Trait Symptomatology in Toddlers}}. {J Autism Dev Disord}. 2018.
Current research on children’s autistic traits in the general population relies predominantly on caregiver-report, yet the extent to which individual, caregiver or demographic characteristics are associated with informants’ ratings has not been sufficiently explored. In this study, caregivers of 396 Singaporean two-year-olds from a birth cohort study completed the Quantitative Checklist for Autism in Toddlers. Children’s gender, cognitive functioning and birth order, maternal age, and ethnic group membership were not significant predictors of caregiver-reported autistic traits. Poorer child language development and higher maternal depressive symptoms significantly predicted more social-communicative autistic traits, while lower maternal education predicted more behavioural autistic traits. Children’s language and informants’ educational level and depressive symptomatology may need to be considered in caregiver-reports of autistic traits.
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13. Hegarty JP, 2nd, Gu M, Spielman DM, Cleveland SC, Hallmayer JF, Lazzeroni LC, Raman MM, Frazier TW, Phillips JM, Reiss AL, Hardan AY. {{A proton MR spectroscopy study of the thalamus in twins with autism spectrum disorder}}. {Prog Neuropsychopharmacol Biol Psychiatry}. 2018; 81: 153-60.
Multiple lines of research have reported thalamic abnormalities in individuals with autism spectrum disorder (ASD) that are associated with social communication impairments (SCI), restricted and repetitive behaviors (RRB), or sensory processing abnormalities (SPA). Thus, the thalamus may represent a common neurobiological structure that is shared across symptom domains in ASD. Same-sex monozygotic (MZ) and dizygotic (DZ) twin pairs with and without ASD underwent cognitive/behavioral evaluation and magnetic resonance imaging to assess the thalamus. Neurometabolites were measured with (1)H magnetic resonance spectroscopy (MRS) utilizing a multi-voxel PRESS sequence and were referenced to creatine+phosphocreatine (tCr). N-acetyl aspartate (NAA), a marker of neuronal integrity, was reduced in twins with ASD (n=47) compared to typically-developing (TD) controls (n=33), and this finding was confirmed in a sub-sample of co-twins discordant for ASD (n=11). NAA in the thalamus was correlated to a similar extent with SCI, RRB, and SPA, such that reduced neuronal integrity was associated with greater symptom severity. Glutamate+glutamine (Glx) was also reduced in affected versus unaffected co-twins. Additionally, NAA and Glx appeared to be primarily genetically-mediated, based on comparisons between MZ and DZ twin pairs. Thus, thalamic abnormalities may be influenced by genetic susceptibility for ASD but are likely not domain-specific.
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14. Hirasawa K. {{[Topics on Child Development in Pediatrics]}}. {Nihon eiseigaku zasshi Japanese journal of hygiene}. 2018; 73(1): 46-50.
Over the past few decades, advances in neonatal medicine have increased survival rates among very-low-birth-weight (VLBW) babies. Despite improvements in short-term outcomes, there is increasing concern about the probability of mild cognitive dysfunction in this population. Our analysis of VLBW babies born in our hospital revealed that the incidence of mild developmental disorders including autism spectrum disorder (ASD) and attention deficit hyperactive disorder (ADHD) at the age of 3 years is 7.2%, which is markedly higher than the 2.8% incidence of ASD in the general population. Because problems related to ASD or ADHD tend to become more prominent as children grow up, the ages at diagnosis of developmental disorders are generally 6 years or above. Thus, in our follow up study of VLBW babies at age 6, the incidence of these developmental disorders had risen to 30%. These patients are apparently obstinate and difficult to train, causing parental problems with child care. It is important to support these children and help them establish good relationships with their parents. Given these problems, it is necessary to follow up VLBW children in the longterm, at least until they are elementary school students.
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15. Jackson SLJ, Hart L, Volkmar FR. {{Preface: Special Issue-College Experiences for Students with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018; 48(3): 639-42.
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16. Kalb LG, Stuart EA, Vasa RA. {{Characteristics of psychiatric emergency department use among privately insured adolescents with autism spectrum disorder}}. {Autism}. 2018: 1362361317749951.
This study examined differences in the rates of psychiatric-related emergency department visits among adolescents with autism spectrum disorder, adolescents with attention deficit hyperactivity disorder, and adolescents without autism spectrum disorder or attention deficit hyperactivity disorder. Additional outcomes included emergency department recidivism, probability of psychiatric hospitalization after the emergency department visit, and receipt of outpatient mental health services before and after the emergency department visit. Data came from privately insured adolescents, aged 12-17 years, with autism spectrum disorder (N = 46,323), attention deficit hyperactivity disorder (N = 408,066), and neither diagnosis (N = 2,330,332), enrolled in the 2010-2013 MarketScan Commercial Claims Database. Adolescents with autism spectrum disorder had an increased rate of psychiatric emergency department visits compared to adolescents with attention deficit hyperactivity disorder (IRR = 2.0, 95% confidence interval: 1.9, 2.1) and adolescents with neither diagnosis (IRR = 9.9, 95% confidence interval: 9.4, 10.4). Compared to the other groups, adolescents with autism spectrum disorder also had an increased probability of emergency department recidivism, psychiatric hospitalization after the emergency department visit, and receipt of outpatient care before and after the visit (all p < 0.001). Further research is required to understand whether these findings extend to youth with other neurodevelopmental disorders, particularly those who are publicly insured. Lien vers le texte intégral (Open Access ou abonnement)
17. Kopec AM, Fiorentino MR, Bilbo SD. {{Gut-immune-brain dysfunction in Autism: Importance of sex}}. {Brain Res}. 2018.
Autism Spectrum Disorder (ASD) is characterized by social behavior deficits, stereotypies, cognitive rigidity, and in some cases severe intellectual impairment and developmental delay. Although ASD is most widely identified by its neurological deficits, gastrointestinal issues are common in ASD. An intimate and complex relationship exists between the gut, the immune system, and the brain, leading to the hypothesis that ASD may be a systems-level disease affecting the gut and immune systems, in addition to the brain. Despite significant advances in understanding the contribution of the gut and immune systems to the etiology of ASD, there is an intriguing commonality among patients that is not well understood: they are predominantly male. Virtually no attention has been given to the potential role of sex-specific regulation of gut, peripheral, and central immune function in ASD, despite the 4:1 male-to-female bias in this disorder. In this review, we discuss recent revelations regarding the impact of gut-immune-brain relationships on social behavior in rodent models and in ASD patients, placing them in the context of known or putative sex specific mechanisms.
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18. Leser KA, Pirie PL, Ferketich AK, Havercamp SM, Wewers ME. {{The Perceived Role of Direct Support Professionals in the Health Promotion Efforts of Adults With Developmental Disabilities Receiving Support Services}}. {Intellectual and developmental disabilities}. 2018; 56(1): 40-55.
Direct support professionals (DSPs) play a large social role in the lives of people with developmental disabilities (DD) and have the potential to influence their health behaviors. Six qualitative focus groups ( n = 48) were conducted with DD community agency administrators, DSPs, family members and adults with DD to better understand the perceived role of DSPs in the health promotion efforts of those with DD. Findings from this study suggest that DSPs experience several barriers when trying to promote the health of those with DD, one of which is fear of violating the rights of people with DD. Future work should identify ways to overcome the barriers experienced by DSPs, so that they can better assist people with DD with health promotion efforts.
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19. Levaot Y, Meiri G, Dinstein I, Menashe I, Shoham-Vardi I. {{Autism Prevalence and Severity in Bedouin-Arab and Jewish Communities in Southern Israel}}. {Community mental health journal}. 2018.
The vast majority of autism spectrum disorder (ASD) research focuses on Caucasian populations in western world countries. While it is assumed that autism rates are similar across ethnic groups regardless of genetic background and environmental exposures, few studies have specifically examined how autism prevalence and severity may differ between majority and minority populations with distinct characteristics. Therefore, we evaluated ethnic differences in ASD prevalence and severity of Bedouin-Arab and Jewish children in the south of Israel. We compared demographic and clinical characteristics of 104 children from a Bedouin-Arab minority with 214 Jewish children who were referred to the main ASD clinic in Southern Israel with suspected communication disorders. Data were obtained from medical records. Jewish children’s referral rates were almost 6 times more than that of Bedouin-Arab referral rates (21:1000 and 3.6:1000, respectively). The percentage of high functioning children with ASD was much higher in Jewish than in Bedouin-Arab children (29.6 and 2.6%, respectively). Bedouin-Arab children showed more severe autistic manifestations. Moreover, Bedouin-Arab children were more likely than Jewish children to have additional diagnosis of intellectual disability (14.5 and 6.9%, respectively). Autism prevalence and severity differs markedly between the Bedouin-Arab and Jewish populations in the south of Israel. Most striking is the almost complete absence of children with high-functioning autism in the Bedouin community. A better understanding of the causes for autism prevalence and severity differences across ethnic groups is crucial for revealing the impact of multiple genetic and environmental factors that may affect autism development in each group.
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20. Li SJ, Yu SS, Luo HY, Li X, Rao B, Wang Y, Li ZZ, Liu G, Zou LP, Zhang JS, Feng C, Liu J, Liu JW, Hu N, Chen XQ, Yu SY, Li K, He MW, Yu XG, Wang J, Guo SL, Chen ZY, Zhang L, Ma L. {{Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder}}. {Clin Chim Acta}. 2018; 479: 144-7.
Autism spectrum disorder (ASD) is a genetically heterogeneous neurodevelopmental disorder characterized by impairments in social interaction and communication, and by restricted and repetitive behaviors. The genetic architecture of ASD has been elucidated, including chromosomal rearrangements, de novo or inherited rare variants, and copy number variants. However, the genetic mechanism of Chinese families with ASD children is explored rarely. To identify genetic pathogenesis, we performed massively parallel sequencing on 13 Chinese ASD trio families, and found two de novo variations. The novel de novo splice alteration c.664+2T>G in the DEAF1 gene and the novel de novo missense mutation c.95 C>T in the AADAT gene associated with ASD may be important clues for exploring the etiology of this disorder.
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21. McKinnon I, Lewis T, Mehta N, Imrit S, Thorp J, Ince C. {{Vitamin D in patients with intellectual and developmental disability in secure in-patient services in the North of England, UK}}. {BJPsych bulletin}. 2018; 42(1): 24-9.
Aims and method To assess the benefits of the introduction of routine vitamin D serum sampling for all patients admitted to a secure in-patient hospital in the North of England providing medium security, low security and rehabilitation services for offenders with intellectual and developmental disability. The vitamin D levels of 100 patients were analysed at baseline. Those with insufficient or deficient levels were offered treatment and retested after 1 year. Vitamin D levels were analysed in the context of level of security, seasonality of test and co-prescription of psychotropic medications. RESULTS: Eighty-three per cent of patients had suboptimal vitamin D levels at initial test (41% deficient and 42% insufficient). This was seen among established patients and new admissions. Regression analysis of baseline vitamin D levels revealed no differences for levels of security, seasonality, whether patients were taking antipsychotic or anticonvulsant medication, or length of stay. Patients with deficiency or insufficiency were all offered supplementation. Those who opted in had significantly higher vitamin D levels at follow-up, compared with those who declined treatment. Clinical implications Established and newly admitted patients in our secure mental health services had substantial levels of vitamin D insufficiency. In the light of the morbidities that are associated with deficient vitamin D levels, routine screening and the offer of supplementation is advisable. Declaration of interest None.
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22. Parish SL, Son E, Powell RM, Igdalsky L. {{Reproductive Cancer Treatment Hospitalizations of U.S. Women With Intellectual and Developmental Disabilities}}. {Intellectual and developmental disabilities}. 2018; 56(1): 1-12.
There is a dearth of existing research on the treatment of reproductive cancers among women with intellectual and developmental disabilities (IDD). This study analyzed the 2010 Healthcare Cost and Utilization Project Nationwide Inpatient Sample and compared the prevalence of reproductive cancer treatment hospitalization discharges among women with and without IDD. Discharges linked to women with IDD had higher incidences of cancer of the uterus and lower prevalence of cancer of the cervix. Moreover, discharges linked to women with IDD indicated these women were younger, had longer hospital stays, and were more likely to have public insurance coverage. Therefore, further research and targeted interventions to increase cancer prevention and screening are urgently needed.
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23. Quadros EV, Sequeira JM, Brown WT, Mevs C, Marchi E, Flory M, Jenkins EC, Velinov MT, Cohen IL. {{Folate receptor autoantibodies are prevalent in children diagnosed with autism spectrum disorder, their normal siblings and parents}}. {Autism Res}. 2018.
Folate deficiency can affect fetal and neonatal brain development Considering the reported association of Folate receptor alpha (FRalpha) autoantibodies (Abs) with autism and developmental disorders, we sought to confirm this in families of 82 children with ASD, 53 unaffected siblings, 65 fathers, and 70 mothers, along with 52 unrelated normal controls. Overall, 76% of the affected children, 75% of the unaffected siblings, 69% of fathers and 59% of mothers were positive for either blocking or binding Ab, whereas the prevalence of this Ab in the normal controls was 29%. The Ab was highly prevalent in affected families including unaffected siblings. The appearance of these antibodies may have a familial origin but the risk of developing ASD is likely influenced by other mitigating factors since some siblings who had the antibodies were not affected. The antibody response appears heritable with the blocking autoantibody in the parents and affected child increasing the risk of ASD. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Folate is an essential nutrient during fetal and infant development. Autoantibodies against the folate receptor alpha can block folate transport from the mother to the fetus and to the brain in infants. Children diagnosed with autism and their immediate family members were evaluated for the prevalence of folate receptor autoantibodies. The autoantibody was highly prevalent in affected families with similar distribution in parents, normal siblings and affected children. The presence of these antibodies appears to have a familial origin and may contribute to developmental deficits when combined with other factors.
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24. Rezaei M, Moradi A, Tehrani-Doost M, Hassanabadi H, Khosroabadi R. {{Effects of Combining Medication and Pivotal Response Treatment on Aberrant Behavior in Children with Autism Spectrum Disorder}}. {Children (Basel, Switzerland)}. 2018; 5(2).
Abstract: The purpose of this study was to investigate the effects of combined risperidone (RIS) and pivotal response treatment (PRT) on children with autism spectrum disorder (ASD). A total of 34 children diagnosed with ASD according to the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-V) (mean age of 12.36 years) were randomly assigned to either of two groups; the first group (n = 17) received combined PRT-RIS while the second group (n = 17) received RIS only. Behavioral problems were evaluated with the Aberrant Behavior Checklist (ABC), whereas global improvement (GI) was measured with the Clinical Global Impressions (CGI). Assessment of ABC was performed before intervention, after intervention (12 weeks), and following 3 months of the intervention (follow-up). Total ABC scores were seen to decrease in both groups after 3 months, as compared with the scores prior to the interventions. Also, in both groups, mean scores of behavioral problems after the intervention were not significantly different from those prior to the intervention, in all subscales but the inappropriate speech (p < 0.001). However, both groups showed significant differences in mean scores of ABC subscales in both of the post-intervention evaluation stages. It was concluded that the combination of behavioral and drug interventions can further improve behavioral problems, ultimately improving patient's communication and social skills. Lien vers le texte intégral (Open Access ou abonnement)
25. Rose S, Bennuri SC, Davis JE, Wynne R, Slattery JC, Tippett M, Delhey L, Melnyk S, Kahler SG, MacFabe DF, Frye RE. {{Butyrate enhances mitochondrial function during oxidative stress in cell lines from boys with autism}}. {Translational psychiatry}. 2018; 8(1): 42.
Butyrate (BT) is a ubiquitous short-chain fatty acid (SCFA) principally derived from the enteric microbiome. BT positively modulates mitochondrial function, including enhancing oxidative phosphorylation and beta-oxidation and has been proposed as a neuroprotectant. BT and other SCFAs have also been associated with autism spectrum disorders (ASD), a condition associated with mitochondrial dysfunction. We have developed a lymphoblastoid cell line (LCL) model of ASD, with a subset of LCLs demonstrating mitochondrial dysfunction (AD-A) and another subset of LCLs demonstrating normal mitochondrial function (AD-N). Given the positive modulation of BT on mitochondrial function, we hypothesized that BT would have a preferential positive effect on AD-A LCLs. To this end, we measured mitochondrial function in ASD and age-matched control (CNT) LCLs, all derived from boys, following 24 and 48 h exposure to BT (0, 0.1, 0.5, and 1 mM) both with and without an in vitro increase in reactive oxygen species (ROS). We also examined the expression of key genes involved in cellular and mitochondrial response to stress. In CNT LCLs, respiratory parameters linked to adenosine triphosphate (ATP) production were attenuated by 1 mM BT. In contrast, BT significantly increased respiratory parameters linked to ATP production in AD-A LCLs but not in AD-N LCLs. In the context of ROS exposure, BT increased respiratory parameters linked to ATP production for all groups. BT was found to modulate individual LCL mitochondrial respiration to a common set-point, with this set-point slightly higher for the AD-A LCLs as compared to the other groups. The highest concentration of BT (1 mM) increased the expression of genes involved in mitochondrial fission (PINK1, DRP1, FIS1) and physiological stress (UCP2, mTOR, HIF1alpha, PGC1alpha) as well as genes thought to be linked to cognition and behavior (CREB1, CamKinase II). These data show that the enteric microbiome-derived SCFA BT modulates mitochondrial activity, with this modulation dependent on concentration, microenvironment redox state, and the underlying mitochondrial function of the cell. In general, these data suggest that BT can enhance mitochondrial function in the context of physiological stress and/or mitochondrial dysfunction, and may be an important metabolite that can help rescue energy metabolism during disease states. Thus, insight into this metabolic modulator may have wide applications for both health and disease since BT has been implicated in a wide variety of conditions including ASD. However, future clinical studies in humans are needed to help define the practical implications of these physiological findings.
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26. Shickman R, Famula J, Tassone F, Leehey M, Ferrer E, Rivera SM, Hessl D. {{Age- and CGG Repeat-Related Slowing of Manual Movement in Fragile X Carriers: A Prodrome of Fragile X-Associated Tremor Ataxia Syndrome?}}. {Movement disorders : official journal of the Movement Disorder Society}. 2018.
BACKGROUND: Fragile X premutation carriers are at increased risk for fragile X-associated tremor ataxia syndrome (FXTAS), but to date we know little about prediction of onset and rate of progression and even less about treatment of this neurodegenerative disease. Thus, the longitudinal study of carriers, and the identification of potential biomarkers and prodromal states, is essential. Here we present results of baseline assessments from an ongoing longitudinal project. METHODS: The cohort consisted of 73 men, 48 with the fragile X mental retardation 1 (FMR1) premutation (55-200 cytosine-cytosine-guanine or CGG repeats) and 25 well-matched controls (< 40 repeats) aged between 40 and 75 years. At enrollment, none met criteria for FXTAS or had any clinically significant tremor or ataxia by blinded neurological examination. The battery consisted of measures of visual memory, spatial working memory, response inhibition, motor speed and control, planning and problem solving, sustained attention, and a standardized movement disorder evaluation. RESULTS: Contrary to expectations, there were no significant differences between premutation carriers and controls on any measure of executive function. However, the premutation carriers had significantly longer manual movement and reaction times than controls, and the significant interaction between CGG repeat and age revealed the slowest movement times among older carriers with higher CGG repeat alleles. A subset of premutation carriers had marginally lower scores on the ataxia evaluation, and they performed no differently from controls on the parkinsonism assessment. CONCLUSION: Early-developing cerebellar or fronto-motor tract white matter changes, previously documented in MRI studies, may underlie motor slowing that occurs before clinically observable neurological symptoms associated with FXTAS. (c) 2018 International Parkinson and Movement Disorder Society. Lien vers le texte intégral (Open Access ou abonnement)
27. Todorow C, Connell J, Turchi RM. {{The medical home for children with autism spectrum disorder: an essential element whose time has come}}. {Current opinion in pediatrics}. 2018; 30(2): 311-7.
PURPOSE OF REVIEW: The purpose of this review is to describe the role of the medical home in children with autism spectrum disorder (ASD). A high-quality medical home is essential, given the increase in prevalence of ASD and the array of services, community partners, specialists, therapists, and healthcare team members needed to care for this population. RECENT FINDINGS: Providing care through the medical home model results in fewer unmet needs. Care coordination and integration are the aspects of the medical home currently most lacking. Navigating the healthcare landscape for children with ASD may be enhanced with patient navigators, integration of physical and behavioral health, and telehealth services. SUMMARY: Children with ASD have an increased number of medical and mental health needs. Obtaining care via a medical home has been shown to decrease unmet healthcare needs. However, they are less likely to receive care through the medical home model compared with other children with special healthcare needs. Barriers identified by families include a lack of early identification, limited knowledge on educational plans, and unknown community resources. Barriers identified by providers include lack of time, training, and resources. Providing care coordination and family-centered care in a medical home model are essential for children with ASD.
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28. Weng PL, Bouck EC. {{Comparing the effectiveness of two app-based number lines to teach price comparison to students with autism spectrum disorders}}. {Disability and rehabilitation Assistive technology}. 2018: 1-11.
PURPOSE: A number line consisting of Arabic numerals is a commonly used instructional tool for teaching price comparison. However, typical number lines lack concrete visual cues, which may benefit students with autism spectrum disorders (ASD) who have not yet mastered the representation of Arabic numerals. METHOD: This study investigated the effects of additional visual cues (i.e., dots) by comparing two types of app-based number line conditions: number lines with and without dots. A single-subject, alternating treatment design study was employed across five secondary students with ASD. RESULTS: Both number line conditions were effective for four of the students in assisting them to select cheaper items and complete task analysis steps. The number line with dots was effective or slightly more effective in selecting smaller numbers for three of the students. CONCLUSIONS: The findings of this study support the literature on the use of number lines as an effective tool to assist students in price comparison. The benefits of adding concrete visual cues and other teaching strategies (e.g., the holistic and decomposition models) were discussed. Implications for Rehabilitation This study investigated the effectiveness of concrete visual cues, such as dots, on a number line app for teaching students with ASD who had not yet developed the association of quantities with the numerals. We found that incorporation of a hybrid number comparison model – first holistic (for whole numbers) and then decomposition (for numbers after the decimal point) – is effective when teaching students how to compare prices with an uneven number of digits. This study provides an alternative for special education teachers to schedule practice, such as the use of simulated settings to achieve mastery, then transitioning to community-based settings to test skill generalization.
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29. Wu HC, White S, Rees G, Burgess PW. {{Executive function in high-functioning autism: Decision-making consistency as a characteristic gambling behaviour}}. {Cortex}. 2018.
Restricted and repetitive patterns of behaviours, interests, or activities are a critical diagnostic criterion for autism spectrum disorder (ASD). Previous studies using gambling paradigms with ASD populations have identified that, unlike typically developed control participants, people with a diagnosis of ASD tend to maintain particular response patterns regardless of the magnitude of potential outcomes to uncertain gains or losses. Here we designed a gambling test that permitted calculation of the response consistency in gambling choices in situations that presented varying expected outcomes in terms of gains or losses. The task was administered to 33 adults with a diagnosis of ASDs and compared to a group of 47 typically-developed (TD) control participants who were matched for age and IQ. When presented with choices where participants could either make a risky gamble or a safe choice in terms of gains or losses (e.g., 20% chance of winning pound5 vs. 100% chance of winning pound1), the ASD participants did not differ from the TDs in their overall risk-taking behaviour. However, they were more consistent in their individual choices from trial to trial. Furthermore, the proportion of participants who either implemented an invariate response strategy (e.g., either always choosing the most risky or most « safe » option) was significantly higher in the ASD group compared with the controls. Additionally, while the ASD group were slower to make their responses in the win frame and the first half of the lose frame, by the end of the task their decision times were the same as the TD controls. These findings suggest that the ASD tendency towards repetitive behaviour may demonstrate itself even in high-level decision-making tasks, which needs to be understood if we are to be sure what such tasks are measuring.
