1. Bosco P, Giuliano A, Delafield-Butt J, Muratori F, Calderoni S, Retico A. {{Brainstem enlargement in preschool children with autism: Results from an intermethod agreement study of segmentation algorithms}}. {Hum Brain Mapp};2018 (Sep 5)
The intermethod agreement between automated algorithms for brainstem segmentation is investigated, focusing on the potential involvement of this structure in Autism Spectrum Disorders (ASD). Inconsistencies highlighted in previous studies on brainstem in the population with ASD may in part be a result of poor agreement in the extraction of structural features between different methods. A sample of 76 children with ASD and 76 age-, gender-, and intelligence-matched controls was considered. Volumetric analyses were performed using common tools for brain structures segmentation, namely FSL-FIRST, FreeSurfer (FS), and Advanced Normalization Tools (ANTs). For shape analysis SPHARM-MAT was employed. Intermethod agreement was quantified in terms of Pearson correlations between pairs of volumes obtained by the different methods. The degree of overlap between segmented masks was quantified in terms of the Dice index. Both Pearson correlations and Dice indices, showed poor agreement between FSL-FIRST and the other methods (ANTs and FS), which by contrast, yielded Pearson correlations greater than 0.93 and average Dice indices greater than 0.76 when compared with each other. As with volume, shape analyses exhibited discrepancies between segmentation methods, with particular differences noted between FSL-FIRST and the others (ANT and FS), with under- and over-segmentation in specific brainstem regions. These data suggest that research on brain structure alterations should cross-validate findings across multiple methods. We consistently detected an enlargement of brainstem volume in the whole sample and in the male cohort across multiple segmentation methods, a feature particularly driven by the subgroup of children with idiopathic intellectual disability associated with ASD.
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2. Jafarzadeh Esfehani R, Dastpak M, Mirinezhad MR, Sadr-Nabavi A. {{Complications in Diagnosis of Susceptible Cases of Fragile X Syndrome}}. {Iran J Public Health};2018 (Jul);47(7):1058-1060.
3. Kotetishvili B, Makashvili M, Okujava M, Kotetishvili A, Kopadze T. {{Co-occurrence of Gomez-Lopez-Hernandez syndrome and Autism Spectrum Disorder: Case report with review of literature}}. {Intractable Rare Dis Res};2018 (Aug);7(3):191-195.
We report on Gomez-Lopez-Hernandez syndrome (GLHS) in a Caucasian patient, Georgian, 36 months, male, only child born to non-consanguineous parents. There were no similar cases in the family and among close relatives. MRI study confirmed rhombencephalosynapsis (fusion of cerebellar hemispheres in combination with the agenesis of cerebellar vermis) and mild dilation of the lateral ventricles. Other main findings are bilateral parieto-temporal alopecia and brachiturricephaly (broad skull shape and tower-like elongation of the cranium in the vertical axis), low-set posteriorly retracted ears, strabismus (in the right eye), hypotonia (Beighton scale score – 6) and ataxia (trouble maintaining balance). Patient has no signs of trigeminal anesthesia, no recurrent, painless eye infections, corneal opacities and ulcerated wounds on the facial skin and buccal mucosa were observed. Based on the scientific literature we suggest a finding of brachiturricephaly in addition to rhombencephalosynapsis and bilateral alopecia sufficient to put a diagnosis of GLHS. Patient did not speak, disregarded guardians and clinician addressing him, did not make eye contact, was restless and occasionally displayed aggression and self-injurious behavior. These symptoms confirm the earlier diagnosis of Autism Spectrum Disorder (ASD). Therefore, the current study describes a case of co-occurrence of GLHS and ASD.
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4. Marchezan J, Winkler Dos Santos EGA, Deckmann I, Riesgo RDS. {{Immunological Dysfunction in Autism Spectrum Disorder: A Potential Target for Therapy}}. {Neuroimmunomodulation};2018 (Sep 5):1-20.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with an unknown etiology and currently few effective therapies. Immune system alterations have being demonstrated in ASD, both in humans and via animal models; immune imbalance thus arises as a possible pathway for drug intervention. In this review, the studies were classified into 2 major groups: (1) clinical research whose authors classify therapies with primary anti-inflammatory and immunomodulatory actions, making use of: sulforaphane, celecoxib, lenalidomide, pentoxifylline, spironolactone, flavonoid luteolin, corticosteroids, oral immunoglobulin, intravenous immunoglobulin, cell therapy, dialyzable lymphocyte extracts, minocycline, and pioglitazone; and (2) other ASD therapies already used or currently under study whose initial characteristics were neither anti-inflammatory nor immunomodulatory initially, but displayed a capacity for immunomodulation throughout the treatment: risperidone, vitamin D, omega-3, Ginkgo biloba, L-carnosine, N-acetylcysteine, and microbiome restoration. These studies used various data acquisition methodologies. Questions arose such the need for randomized and placebo-controlled studies with greater numbers of participants as well as the use of biomarkers to refine the treatment of autistic subjects.
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5. Narzisi A, Posada M, Barbieri F, Chericoni N, Ciuffolini D, Pinzino M, Romano R, Scattoni ML, Tancredi R, Calderoni S, Muratori F. {{Prevalence of Autism Spectrum Disorder in a large Italian catchment area: a school-based population study within the ASDEU project}}. {Epidemiol Psychiatr Sci};2018 (Sep 6):1-10.
AimsThis study aims to estimate Autism Spectrum Disorders (ASD) prevalence in school-aged children in the province of Pisa (Italy) using the strategy of the ASD in the European Union (ASDEU) project. METHODS: A multistage approach was used to identify cases in a community sample (N = 10 138) of 7-9-year-old children attending elementary schools in Pisa – Italy. First, the number of children with a disability certificate was collected from the Local Health Authority and an ASD diagnosis was verified by the ASDEU team. Second, a Teacher Nomination form (TN) to identify children at risk for ASD was filled in by teachers who joined the study and the Social Communication Questionnaire (SCQ) was filled in by the parents of children identified as positive by the TN; a comprehensive assessment, which included the Autism Diagnostic Observation Schedule-Second Edition, was performed for children with positive TN and SCQ9. RESULTS: A total of 81 children who had a disability certificate also had ASD (prevalence: 0.79%, i.e. 1/126). Specifically, 66 children (57 males and nine females; 62% with intellectual disability -ID-) were certified with ASD, whereas another 15 (11 males and four females; 80% with ID) were recognised as having ASD among those certified with another neurodevelopmental disorder. Considering the population of 4417 (children belonging to schools which agreed to participate in the TN/SCQ procedure) and using only the number of children certified with ASD, the prevalence (38 in 4417) was 0.86%, i.e. one in 116. As far as this population is concerned, the prevalence rises to 1% if we consider the eight new cases (six males and two females; no subject had ID) identified among children with no pre-existing diagnoses and to 1.15%, i.e., one in 87, if probabilistic estimation is used. CONCLUSIONS: This is the first population-based ASD prevalence study conducted in Italy so far and its results indicate a prevalence of ASD in children aged 7-9 years of about one in 87. This finding may help regional, national and international health planners to improve ASD policies for ASD children and their families in the public healthcare system.
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6. Rubenstein E, Bishop-Fitzpatrick L. {{A Matter of Time: The Necessity of Temporal Language in Research on Health Conditions that Present with Autism Spectrum Disorder}}. {Autism Res};2018 (Sep 5)
Relatively consistent findings from recent studies using population-level data identify heightened physical and psychiatric morbidity in autistic people compared to the general population. Health problems that commonly present with autism spectrum disorder (ASD) are generally discussed in the literature as « co-occurring » or « comorbid » regardless of their known or hypothesized causal mechanisms. In this commentary, we introduce a new temporally focused terminology to describe health conditions that present with ASD. Emphasizing the temporal development of health conditions in research will help the field understand whether conditions are (1) « truly co-occurring » (share an etiologic origin with ASD in utero and are a defining characteristic of a subphenotype), (2) « resulting » (caused by ASD related disparity or the health effect of behaviors developed to cope with ASD symptoms), or (3) « associated » (conditions more common in individuals with ASD with etiology not yet known or hypothesized, or an artifact of diagnostic process or trends). Whether a health condition is « truly co-occurring », « resulting », or « associated » has implications for how we design interventions to prevent and treat health conditions in people on the autism spectrum. Ultimately, we think that using clear and temporally focused language can set us on a path to better deduce etiology and develop effective prevention and intervention efforts for health conditions that impact the lives of autistic individuals. We hope that this approach to temporal language to describe health conditions that present with ASD promotes thought and discussion in research, advocate, and autistic communities. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Research finds autistic people have more health problems than the general population but we do not understand why. In this commentary, we argue researchers need to use language describing the timing of health problems in autistic people, specifying whether problems truly co-occur (share a cause), result from autism-related disparities, or are more common in autistic people for an unknown reason. Clarifying language can provide more specificity in research and improve efforts to prevent and treat health problems in autistic people.
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7. Santos R, Guedes H, Marques L, Lourenco C, Silva JC, Pinto P. {{Transcatheter Closure of a Traumatic VSD with an ASD Occluder}}. {Arq Bras Cardiol};2018 (Aug);111(2):223-225.
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8. Sun C, Zou M, Wang X, Xia W, Ma Y, Liang S, Hao Y, Wu L, Fu S. {{FADS1-FADS2 and ELOVL2 gene polymorphisms in susceptibility to autism spectrum disorders in Chinese children}}. {BMC Psychiatry};2018 (Sep 4);18(1):283.
BACKGROUD: Autism spectrum disorders (ASD) are a complex group of neurodevelopmental disorders with a genetic basis. The role of long-chain polyunsaturated fatty acids (LC-PUFAs) and the occurrence of autism has been the focus of many recent studies. The present study investigates whether genetic variants of the fatty acid desaturase (FADS) 1/2 and elongation of very long-chain fatty acids protein (ELOVL) 2 genes, which are involved in LC-PUFA metabolism, are associated with ASD risk. METHODS: A cohort of 243 ASD patients and 243 unrelated healthy controls were enrolled in this case control study. Sixteen tag single nucleotide polymorphisms from the FADS1-2 and ELOVL2 genes were genotyped using the Sequenom Mass Array. RESULTS: There were significant differences in allelic distribution of FADS2 rs526126 (OR = 0.55, 95% CI = 0.42-0.72, pFDR < 0.05) between autistic children and controls. FADS2 rs526126 and ELOVL2 rs10498676 were associated with decreased ASD risk in recessive model (OR = 0.07, 95% CI = 0.02-0.22, pFDR < 0.01; OR = 0.56, 95% CI = 0.35-0.89, pFDR = 0.042), while ELOVL2 rs17606561, rs3756963, and rs9468304 were associated with increased ASD risk in overdominant model (OR = 1.63, 95% CI = 1.12-2.36, pFDR = 0.036; OR = 1.64, 95% CI = 1.14-2.37, pFDR = 0.039; OR = 1.75, 95% CI = 1.22-2.50, pFDR = 0.017). The A/A genotype of rs10498676 was correlated with a decline in the Autism Diagnostic Interview-Revised communication (verbal and nonverbal) domain. CONCLUSIONS: These findings provide evidence of an association between FADS2 and ELOVL2 polymorphisms and ASD susceptibility in Chinese children. Lien vers le texte intégral (Open Access ou abonnement)
9. Wachspress B, Maeir A, Mazor-Karsenty T. {{Content Validity of the Parentship Protocol: A Multidimensional Intervention for Parents of Adolescents with High-Functioning Autism Spectrum Disorder}}. {Phys Occup Ther Pediatr};2018 (Sep 6):1-15.
The Parentship protocol is a short-term intervention program in occupational therapy for parents of adolescents with High-Functioning Autism Spectrum Disorder (HFASD). Its purpose is to promote parental resilience and enhance adolescents’ participation in daily life. AIMS: To explore and analyze the perceptions of occupational therapists and parents of individuals with HFASD, regarding the content of the protocol and its theoretical framework. METHODS: Implementation of a phenomenological qualitative approach using two focus groups (six occupational therapists and five parents). A transcript-based analysis was used for analyzing the data. RESULTS: The degree of agreement regarding the potential purposes and contents of the protocol was high. In addition, nine themes were raised and led to changes and additions in the protocol. CONCLUSIONS: The study provided support for content validity and acceptability of the Parentship protocol. Future research should test the feasibility of this new intervention program.
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10. Yamagata B, Itahashi T, Nakamura M, Mimura M, Hashimoto RI, Kato N, Aoki Y. {{White matter endophenotypes and correlates for the clinical diagnosis of autism spectrum disorder}}. {Soc Cogn Affect Neurosci};2018 (Sep 4);13(7):765-773.
Since prior diffusion tensor imaging (DTI) studies reported no significant differences in white matter organizations between individuals with autism spectrum disorder (ASD) and their unaffected siblings, the neural correlates for developing a clinical diagnosis among people with endophenotypes remain undetermined. We obtained DTI data from a total of 60 participants consisting of 30 people with endophenotypes and 30 people without. We first followed a conventional approach by comparing individuals with ASD and their unaffected siblings. Using region-of-interest approach, we then performed bootstrapping to examine whether the differences in white matter organizations between individuals with ASD and their unaffected siblings were substantially large, considering the distribution of differences between typically developing (TD) siblings. Conventional approaches revealed no significant differences in white matter organizations between individuals with ASD and their unaffected siblings. Bootstrapping revealed a significantly large difference in axial diffusivity in the left stria terminalis between individuals with ASD and their unaffected siblings after accounting for the distribution of differences in axial diffusivity among TD siblings (99.998 percentile). The results remained significant after controlling for multiple comparisons with Bonferroni method. We assumed that one aspect of this tract was associated with the development of a clinical diagnosis.
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11. Zhou J, Liu A, He F, Jin Y, Zhou S, Xu R, Guo H, Zhou W, Wei Q, Wang M. {{High prevalence of serum folate receptor autoantibodies in children with autism spectrum disorders}}. {Biomarkers};2018 (Sep 6):1-3.
BACKGROUND: Supplementation of folic acid by pregnant mothers is thought to lower the risk of autism spectrum disorders (ASDs) in the offspring. Folic acid is taken up by cells via receptors with high affinity for folate and reduced folic acid derivatives. However, this is blocked by the presence of folate receptor autoantibodies (FRAA). Cerebral FRAA have been detected with high frequency in children with ASDs, suggesting the existence of a link between folic acid uptake and disease aetiology. METHODS: We investigated the frequency of FRAA in serum samples from 40 children with ASDs and 42 gender- and age-matched children with typical development (TD). Serum FRAA concentrations were measured by enzyme-linked immunosorbent assay. RESULTS: We found a significant difference in the frequency of serum FRAA in the two study cohorts. Serum FRAA were present in 77.5% (31/40) of children with ASDs compared with 54.8% (23/42) of TD children (p = 0.03746, Fischer’s exact test). Thus, serum FRAA are more prevalent in children with ASDs than in TD children. CONCLUSIONS: Our data suggest that children with ASDs may have defects in folic acid absorption that play a role in the onset of ASDs.
