Pubmed du 06/09/20

dimanche 6 septembre 2020

1. Barrionuevo BA, Chowdhury AR, Lee JM, Dueker ND, Martin ER, Pericak-Vance MA, Cuccaro M. Family History of Eating Disorder and the Broad Autism Phenotype in Autism. Autism Res ;2020 (Sep 5)

Autism features occur frequently among individuals with eating disorders (ED). This co-occurrence is not well understood but there is speculation that select traits (e.g., rigidity) are common to both autism and ED. To explore the co-occurrence of autistic traits and ED features, we used the Simons Simplex Collection (SSC ; N = 2,623 families) to test whether first-degree relatives of individuals with autism with a history of ED features had more autism traits, as measured by the Broad Autism Phenotype Questionnaire (BAP-Q), compared to relatives with no history of ED. The frequency of individuals with ED features was 2.2% (N = 57) among mothers, <1% in siblings, and not present in fathers. We restricted our analyses to mothers. Compared to mothers with no history of ED, those with a history of ED had significantly higher scores on the BAP-Q Total Score and each of the three BAP-Q domains. More importantly, when the BAP-Q was used as a classification tool, we found that when compared to mothers with no history of ED, those with a history of ED were most likely to fall into the clinically significant range on the BAP-Q Rigid domain. Our results suggest that a history of ED features among mothers of individuals with autism is associated with the presence of autistic traits. This extends previous work showing a relationship between autism and ED and expands the range of neuropsychiatric traits that have relevance to the BAP among family members of individuals with autism. LAY SUMMARY : Using information from the Simons Simplex Collection we tested whether mothers of individuals with autism with a history of eating disorder had more autism traits (i.e., similar to those in autism but milder) compared to mothers with no history of eating disorder. The most striking difference between the groups was the presence of rigidity in mothers with a history of eating disorder. This extends previous work showing a relationship between autism and eating disorders and suggests the utility of studying eating disorders in future family studies of autism.

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2. Bethlehem RAI, Seidlitz J, Romero-Garcia R, Trakoshis S, Dumas G, Lombardo MV. A normative modelling approach reveals age-atypical cortical thickness in a subgroup of males with autism spectrum disorder. Commun Biol ;2020 (Sep 4) ;3(1):486.

Understanding heterogeneity is an important goal on the path to precision medicine for autism spectrum disorders (ASD). We examined how cortical thickness (CT) in ASD can be parameterized as an individualized metric of atypicality relative to typically-developing (TD) age-related norms. Across a large sample (n = 870 per group) and wide age range (5-40 years), we applied normative modelling resulting in individualized whole-brain maps of age-related CT atypicality in ASD and isolating a small subgroup with highly age-atypical CT. Age-normed CT scores also highlights on-average differentiation, and associations with behavioural symptomatology that is separate from insights gleaned from traditional case-control approaches. This work showcases an individualized approach for understanding ASD heterogeneity that could potentially further prioritize work on a subset of individuals with cortical pathophysiology represented in age-related CT atypicality. Only a small subset of ASD individuals are actually highly atypical relative to age-norms. driving small on-average case-control differences.

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3. Chancel R, Miot S, Dellapiazza F, Baghdadli A. Group-based educational interventions in adolescents and young adults with ASD without ID : a systematic review focusing on the transition to adulthood. Eur Child Adolesc Psychiatry ;2020 (Sep 5)

There is a growing number of young people, diagnosed with an autism-spectrum disorder (ASD), transitioning to adulthood. Among this number, individuals without an intellectual disability have significant adaptive deficits and need individualized care and support services to better target vocational, social, and educational prospects and outcomes. Group-based interventions, including patient education, social-skills training, and cognitive-behavioral therapy, are widely used in clinical settings to improve the daily life and prospects of ASD individuals facing the challenge of transitioning to adulthood. We performed a systematic review of studies concerning the efficiency of group-based educational interventions with a focus on the transition to adulthood for young, ASD individuals without intellectual disability (ID). As a result of this systematic search, 21 studies out of 163 were found to be eligible for inclusion. We observed considerable heterogeneity across the studies, in terms of effect sizes and intervention design, delivery, and the comparison of controls. Strong evidence was found in favor of social-skills training and cognitive-behavioral therapy interventions. Professionals should consider group-based psychoeducational intervention to be an appropriate and relevant service for young subjects with ASD without ID transitioning to adulthood. Further research is needed on larger samples using multicentric designs to validate efficacy before generalization.

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4. Pin TW, So VKK, Siu CSH, Yip SSN, Cheung SS, Kan JY. Development of the Social Motor Function Classification System for Children with Autism Spectrum Disorders : A Psychometric Study. J Autism Dev Disord ;2020 (Sep 5)

To examine reliability and validity of the new Social Motor Function Classification System for Children with Autism Spectrum Disorders (SMFCS-ASD). The SMFCS-ASD reliability was examined on 25 children (62.4 months SD 7.8) with ASD among six physical therapists. The validity study involved 1001 children (57.0 months, SD 9.9) with ASD using the gross motor scale (GMS) of the Peabody Developmental Motor Scales (PDMS-2). The indices of agreement and reliability across six examiners were moderate to substantial (Cohen’s κ ≤ 0.65 and ICC > 0.90, all p < 0.001). The SMFCS-ASD was significantly correlated with the GMS of PDMS-2 (all rho from 0.61 to 0.76, p < 0.001). The SMFCS-ASD was reliable and significantly correlated with the GMS of the PDMS-2.

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5. Ryan C, Cogan S, Phillips A, O’Connor L. Objective and Subjective Measurement of Alexithymia in Adults with Autism. J Autism Dev Disord ;2020 (Sep 4)

High rates of alexithymia, a condition characterised by difficulties identifying and describing emotions, are frequently reported in both children and adults with autism spectrum disorder (ASD). However, the dilemma of measuring alexithymia via self-report has rarely been addressed. In this study, we compared objective and subjective measures of alexithymia in adults with ASD and typically developing adults. We found significantly higher levels of alexithymia in the ASD sample as measured by both self-report on the Toronto Alexithymia Scale (TAS-20) and by the observer rated Alexithymia Provoked Response Scale (APRQ). However, the two measures did not correlate with each other. We explore the different facets of the alexithymia construct that these two measures may be distinguishing.

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6. Iakovidou N, Lanzarini E, Singh J, Fiori F, Santosh P. Differentiating Females with Rett Syndrome and Those with Multi-Comorbid Autism Spectrum Disorder Using Physiological Biomarkers : A Novel Approach. J Clin Med ;2020 (Sep 2) ;9(9)

This study explored the use of wearable sensor technology to investigate autonomic function in children with autism spectrum disorder (ASD) and Rett syndrome (RTT). We aimed to identify autonomic biomarkers that can correctly differentiate females with ASD and Rett Syndrome using an innovative methodology that applies machine learning approaches. Our findings suggest that we can predict (95%) the status of ASD/Rett. We conclude that physiological biomarkers may be able to assist in the differentiation between patients with RTT and ASD and could allow the development of timely therapeutic strategies.

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7. Hartman JS, Silver AH. Nutritional Rickets Due to Severe Food Selectivity in Autism Spectrum Disorder. J Dev Behav Pediatr ;2020 (Sep 2)

OBJECTIVE : Studies have detected differences in various measures of bone health between individuals with autism spectrum disorder (ASD) and their peers. However, these measures do not amount to direct clinical evidence of increased orthopedic pathology in this population. Some of the most compelling evidence to this effect comes from case reports of nutritional rickets in children with ASD. We report on 1 such case that, to our knowledge, is the first report of nutritional rickets in ASD necessitating corrective surgery. METHODS : Case report, review of relevant literature, and implications for further research. RESULTS : An 11-year-old girl with ASD was admitted for postoperative medical comanagement after successful repair of bilateral genu valgum (knock knees). On admission, the patient’s mother reported that the patient was a "picky eater." No cause had been determined preoperatively, although the deformity had developed at 10 years of age, thereby qualifying as pathologic. The medical team considered rickets because of the patient’s limited diet. Subsequent laboratory work demonstrated hypocalcemia, vitamin D deficiency, and secondary hyperparathyroidism. The patient was diagnosed with nutritional rickets due to inadequate vitamin D intake, a consequence of severe food selectivity associated with ASD. CONCLUSION : This case exemplifies the extreme orthopedic and metabolic complications that can result from food selectivity in children with ASD, pointing to the need for further research into the prevalence and causes of orthopedic pathology and nutritional rickets in this population. The case also underscores the need for evidence-based guidelines to prevent orthopedic pathology in children with ASD.

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8. Lindgren S, Lauer E, Momany E, Cope T, Royer J, Cogan L, McDermott S, Armour BS. Disability, Hospital Care, and Cost : Utilization of Emergency and Inpatient Care by a Cohort of Children with Intellectual and Developmental Disabilities. J Pediatr ;2020 (Sep 2)

OBJECTIVE : To use medical claims data to determine patterns of healthcare utilization in children with intellectual and developmental disabilities, including frequency of service utilization, conditions that require hospital care, and costs. STUDY EESIGN : Medicaid administrative claims from four states (Iowa, Massachusetts, New York, and South Carolina) from years 2008-2013 were analyzed, including 108,789 children (75,417 male ; 33,372 female) under 18 years with intellectual and developmental disabilities. Diagnoses included cerebral palsy, autism, fetal alcohol syndrome, Down syndrome/trisomy/autosomal deletions, other genetic conditions, and intellectual disability. Utilization of ED and inpatient hospital services were analyzed for 2012. RESULTS : Children with intellectual and developmental disabilities used both inpatient and ED care at 1.8 times that of the general population. Epilepsy/convulsions was the most frequent reason for hospitalization at 20 times the relative risk of the general population. Other frequent diagnoses requiring hospitalization were mood disorders, pneumonia, paralysis, and asthma. Annual per capita expenses for hospitalization and ED care were 100% higher for children with intellectual and developmental disabilities, compared with the general population ($153,348,562 and $76,654,361, respectively). CONCLUSIONS : Children with intellectual and developmental disabilities utilize significantly more ED and inpatient care than other children, which results in higher annual costs. Recognizing chronic conditions that increase risk for hospital care can provide guidance for developing outpatient care strategies that anticipate common clinical problems in intellectual and developmental disabilities and ensure responsive management before hospital care is needed.

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9. Ijomone OM, Olung NF, Akingbade GT, Okoh COA, Aschner M. Environmental influence on neurodevelopmental disorders : Potential association of heavy metal exposure and autism. J Trace Elem Med Biol ;2020 (Aug 29) ;62:126638.

Environmental factors have been severally established to play major roles in the pathogenesis of neurodevelopmental disorders including autism spectrum disorder (ASD). ASD is a neurodevelopmental disorder that is associated with symptoms that reduce the quality of life of affected individuals such as social interaction deficit, cognitive impairment, intellectual disabilities, restricted and repetitive behavioural patterns. ASD pathogenesis has been associated with environmental and genetic factors that alter physiologic processes during development. Here, we review literatures highlighting the environmental impact on neurodevelopmental disorders, and mechanisms by which environmental toxins may influence neurodevelopment. Furthermore, this review discusses reports highlighting neurotoxic metals (specifically, lead, mercury, cadmium, nickel and manganese) as environmental risk factors in the aetiology of ASD. This work, thus suggests that improving the environment could be vital in the management of ASD.

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10. Wang HB, Tahara Y, Luk SHC, Kim YS, Hitchcock ON, MacDowell Kaswan ZA, In Kim Y, Block GD, Ghiani CA, Loh DH, Colwell CS. Melatonin treatment of repetitive behavioral deficits in the Cntnap2 mouse model of autism spectrum disorder. Neurobiol Dis ;2020 (Sep 1):105064.

Nighttime light pollution is linked to metabolic and cognitive dysfunction. Many patients with autism spectrum disorders (ASD) show disturbances in their sleep/wake cycle, and may be particularly vulnerable to the impact of circadian disruptors. In this study, we examined the impact of exposure to dim light at night (DLaN, 5 lx) in a model of ASD : the contactin associated protein-like 2 knock out (Cntnap2 KO) mice. DLaN was sufficient to disrupt locomotor activity rhythms, exacerbate the excessive grooming and diminish the social preference in Cntnap2 mutant mice. On a molecular level, DLaN altered the phase and amplitude of PER2 ::LUC rhythms in a tissue-specific manner in vitro. Daily treatment with melatonin reduced the excessive grooming of the mutant mice to wild-type levels and improved activity rhythms. Our findings suggest that common circadian disruptors such as light at night should be considered in the management of ASD.

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11. Kupis L, Romero C, Dirks B, Hoang S, Parladé MV, Beaumont AL, Cardona SM, Alessandri M, Chang C, Nomi JS, Uddin LQ. Evoked and intrinsic brain network dynamics in children with autism spectrum disorder. Neuroimage Clin ;2020 (Aug 25) ;28:102396.

OBJECTIVE : Brain dynamics underlie flexible cognition and behavior, yet little is known regarding this relationship in autism spectrum disorder (ASD). We examined time-varying changes in functional co-activation patterns (CAPs) across rest and task-evoked brain states to characterize differences between children with ASD and typically developing (TD) children and identify relationships with severity of social behaviors and restricted and repetitive behaviors. METHOD : 17 children with ASD and 27 TD children ages 7-12 completed a resting-state fMRI scan and four runs of a non-cued attention switching task. Metrics indexing brain dynamics were generated from dynamic CAPs computed across three major large-scale brain networks : midcingulo-insular (M-CIN), medial frontoparietal (M-FPN), and lateral frontoparietal (L-FPN). RESULTS : Five time-varying CAPs representing dynamic co-activations among network nodes were identified across rest and task fMRI datasets. Significant Diagnosis × Condition interactions were observed for the dwell time of CAP 3, representing co-activation between nodes of the M-CIN and L-FPN, and the frequency of CAP 1, representing co-activation between nodes of the L-FPN. A significant brain-behavior association between dwell time of CAP 5, representing co-activation between nodes of the M-FPN, and social abilities was also observed across both groups of children. CONCLUSION : Analysis of brain co-activation patterns reveals altered dynamics among three core networks in children with ASD, particularly evident during later stages of an attention task. Dimensional analyses demonstrating relationships between M-FPN dwell time and social abilities suggest that metrics of brain dynamics may index individual differences in social cognition and behavior.

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12. Hao X, Pan J, Gao X, Zhang S, Li Y. Gut microbiota on gender bias in autism spectrum disorder. Rev Neurosci ;2020 (Sep 4)

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder. Its three core symptoms are social communication disorder, communication disorder, narrow interest and stereotyped repetitive behavior. The proportion of male and female autistic patients is 4:1. Many researchers have studied this phenomenon, but the mechanism is still unclear. This review mainly discusses the related mechanism from the perspective of gut microbiota and introduces the influence of gut microbiota on the difference of ASD between men and women, as well as how gut microbiota may affect the gender dimorphism of ASD through metabolite of microbiota, immunity, and genetics, which provide some useful information for those who are interested in this research and find more gender-specific treatment for autistic men and women.

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