1. Bradshaw J, Klin A, Evans L, Klaiman C, Saulnier C, McCracken C. {{Development of attention from birth to 5 months in infants at risk for autism spectrum disorder}}. {Development and psychopathology}. 2019: 1-11.
Social-communication skills emerge within the context of rich social interactions, facilitated by an infant’s capacity to attend to people and objects in the environment. Disruption in this early neurobehavioral process may decrease the frequency and quality of social interactions and learning opportunities, potentially leading to downstream deleterious effects on social development. This study examined early attention in infant siblings of children with autism spectrum disorder (ASD) who are at risk for social and communication delays. Visual and auditory attention was mapped from age 1 week to 5 months in infants at familial risk for ASD (high risk; N = 41) and low-risk typically developing infants (low risk; N = 39). At 12 months, a subset of participants (N = 40) was administered assessments of social communication and nonverbal cognitive skills. Results revealed that high-risk infants performed lower on attention tasks at 2 and 3 months of age compared to low-risk infants. A significant association between overall attention at 3 months and developmental outcome at 12 months was observed for both groups. These results provide evidence for early vulnerabilities in visual attention for infants at risk for ASD during a period of important neurodevelopmental transition (between 2 and 3 months) when attention has significant implications for social communication and cognitive development.
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2. Carrasco M, Salazar C, Tiznado W, Ruiz LM. {{Alterations of Mitochondrial Biology in the Oral Mucosa of Chilean Children with Autism Spectrum Disorder (ASD)}}. {Cells}. 2019; 8(4).
Autistic Spectrum Disorder (ASD) is characterized by the impairment of socio-communicative skills and the presence of restricted and stereotyped behavior patterns. Recent researches have revealed the influence of mitochondrial physiology on the development of ASD. Several research groups have identified defects in respiratory complexes, coenzyme-Q10 deficiency, increased oxidative damage, decreased of superoxide dismutase (SOD2). A study on the influence of mitochondrial physiology on the development of ASD can provide new alternatives and challenges. That is why we set ourselves the general objective to initiate studies of mitochondrial physiology in Chilean children with ASD. A sample of oral mucosa was collected in a group of 12 children diagnosed with ASD and 12 children without ASD. In children with ASD, we found a significant increase in mitochondrial DNA levels. Likewise, in these children, an increase in the protein oxidation was observed. Finally, a downward trend in the expression of the HIGD2A and SOD2 genes was observed, while DRP1, FIS1, MFN1, MFN2, and OPA1 gene expression show an upward trend. The increment of mitochondrial DNA, high oxidative stress, and high expression of the MFN2 gene could help as a scanner of the mitochondrial function in children with ASD.
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3. Danker J, Strnadova I, Cumming TM. {{« They don’t have a good life if we keep thinking that they’re doing it on purpose! »: Teachers’ Perspectives on the Well-Being of Students with Autism}}. {J Autism Dev Disord}. 2019.
In recent years, student well-being is increasingly on the research agenda. Yet, little is known about the well-being of students with autism spectrum disorder (ASD). The current study used semi-structured interviews and sought the views of 20 high school teachers of students with ASD to investigate the concept of well-being for this group of students. Grounded theory approaches were used to analyse the data. Teachers conceptualised well-being as consisting of three domains (i.e., peer relationships, sense of safety, engagement), identified three categories of barriers (i.e., teacher’s ability to effectively teach students with ASD, impact of ASD, environment), and several external and internal assets of well-being. Discussion on recommended practices for schools to enhance the well-being of students with ASD are provided.
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4. Ellias SD, Shah HR. {{A Study of Assessment of Knowledge of Childhood Autism among Medical Students in Mumbai}}. {Annals of Indian Academy of Neurology}. 2019; 22(2): 164-9.
Aims: This study is to study the knowledge and awareness on autism among medical students and the factors which impact their knowledge on autism. Settings and Design: For the study, a multicenter cross-sectional research has been carried out among medical students in seven medical colleges in Mumbai. Subjects and Methods: A total of 201 final-year medical students from seven medical colleges in Mumbai completed the knowledge on childhood autism among healthcare workers (KCAHW) survey and a semi-structured pro forma. Of the 201 students, 152 are from the public medical colleges and 37 from the private medical colleges. Statistical Analysis Used: Data collected have been represented in the form of frequency and percentage. SPSS 20.0 is used to analyze the mean distribution of KCAHW scores. A value of P < 0.05 is regarded as statistically significant. Results: The total mean score in the KCAHW questionnaire is 11.85 +/- 3.15 out of 19. This is considered as poor knowledge. Our study reveals that students' knowledge on autism is limited. Knowledge gaps identified in certain autism spectrum disorder (ASD) symptoms are associated with the obsessive and compulsive repetitive pattern of behavior and that autism is associated with epilepsies. Conclusions: It is thus important that these children displaying ASD symptoms are diagnosed correctly and at the earliest. To enable this, doctors in all fields must be able to accurately identify the diagnostic features of autism both within and outside the four walls of the hospital. Lien vers le texte intégral (Open Access ou abonnement)
5. Fogler JM, Stein D, Barbaresi WJ, Bridgemohan C, Steinbauer-Schutz A, Dirmhirn A, Holzinger D, Radesky J, Fellinger J. {{High-Functioning Autism, Severe Anxiety, and Bullying in a 26 Year Old}}. {J Dev Behav Pediatr}. 2019.
CASE: Peter is a 26-year-old group home resident in Austria with a history of poor peer relationships, including being bullied, and previous diagnoses of attention-deficit hyperactivity disorder, Asperger syndrome, social anxiety, depression, and developmental coordination disorder. Consultation from our international neurodevelopmental team was requested for severe anxiety and avoidance of social interactions. He reported 4 or more spontaneous anxiety episodes per day. Anxiety triggers included returning to his group home from his vocational rehabilitation program each evening or returning to the group home after weekends at his parents’ house. Each Sunday evening, in anticipation of returning to the group home, Peter engaged in tantrums, including screaming and throwing objects and suicidal threats without intent, but not direct aggression toward family members. He phoned his mother several times per day on weekdays.Peter’s early history was significant for hyperactivity, impulsivity, aggression, and socially intrusive behavior; he repeated kindergarten and by first grade was characterized as motorically clumsy and « too much in [peers’] personal space. » He played alone in kindergarten and had poor social boundaries; when older, he evidenced reduced social perception, and his family reported he did not notice when peers made fun of him. His language developed normally, but he had a « sophisticated style of speaking » and as an adult continued to have trouble understanding gestures, jokes, and social themes in movies.Between ages 7 and 11 years, Peter had been bullied and ostracized by male peers but did well academically, always got along well with adults, and preferred to play with girls. Exclusion by peers persisted through high school, at which time his independent functioning declined and he required his mother’s assistance with organizing his materials. At age 15 years, Peter repeated a grade so that he could change classmates, and by the equivalent of his junior year, his grades deteriorated. He had several psychiatric admissions for depression and destructive outbursts (to avoid going to school) and was diagnosed with Asperger disorder. At age 18 years, Peter refused to return to school. He lived at home with his parents, only leaving the house to accompany them on errands, until placed in a group home for people with mental health disorders at age 20 years. At age 26 years, he is sharing a supported-living apartment with 2 young adults with chronic psychiatric disorders. He works in 3 highly structured sheltered workshops for a few hours each and becomes easily overwhelmed in unstructured situations and/or in situations in which he anticipates being reprimanded or letting someone down. Despite a strong interest in marine biology, anxiety prevents him from considering college.How would you proceed with diagnostic testing or intervention to help this young man?
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6. Fores-Martos J, Catala-Lopez F, Sanchez-Valle J, Ibanez K, Tejero H, Palma-Gudiel H, Climent J, Pancaldi V, Fananas L, Arango C, Parellada M, Baudot A, Vogt D, Rubenstein JL, Valencia A, Tabares-Seisdedos R. {{Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer}}. {Mol Autism}. 2019; 10: 17.
Background: Epidemiological and clinical evidence points to cancer as a comorbidity in people with autism spectrum disorders (ASD). A significant overlap of genes and biological processes between both diseases has also been reported. Methods: Here, for the first time, we compared the gene expression profiles of ASD frontal cortex tissues and 22 cancer types obtained by differential expression meta-analysis and report gene, pathway, and drug set-based overlaps between them. Results: Four cancer types (brain, thyroid, kidney, and pancreatic cancers) presented a significant overlap in gene expression deregulations in the same direction as ASD whereas two cancer types (lung and prostate cancers) showed differential expression profiles significantly deregulated in the opposite direction from ASD. Functional enrichment and LINCS L1000 based drug set enrichment analyses revealed the implication of several biological processes and pathways that were affected jointly in both diseases, including impairments of the immune system, and impairments in oxidative phosphorylation and ATP synthesis among others. Our data also suggest that brain and kidney cancer have patterns of transcriptomic dysregulation in the PI3K/AKT/MTOR axis that are similar to those found in ASD. Conclusions: Comparisons of ASD and cancer differential gene expression meta-analysis results suggest that brain, kidney, thyroid, and pancreatic cancers are candidates for direct comorbid associations with ASD. On the other hand, lung and prostate cancers are candidates for inverse comorbid associations with ASD. Joint perturbations in a set of specific biological processes underlie these associations which include several pathways previously implicated in both cancer and ASD encompassing immune system alterations, impairments of energy metabolism, cell cycle, and signaling through PI3K and G protein-coupled receptors among others. These findings could help to explain epidemiological observations pointing towards direct and inverse comorbid associations between ASD and specific cancer types and depict a complex scenario regarding the molecular patterns of association between ASD and cancer.
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7. Gurney ME, Nugent RA, Mo X, Sindac JA, Hagen TJ, Fox D, 3rd, O’Donnell JM, Zhang C, Xu Y, Zhang HT, Groppi VE, Bailie M, White RE, Romero DL, Vellekoop AS, Walker JR, Surman MD, Zhu L, Campbell RF. {{Design and Synthesis of Selective Phosphodiesterase 4D (PDE4D) Allosteric Inhibitors for the Treatment of Fragile X Syndrome and Other Brain Disorders}}. {J Med Chem}. 2019.
Novel pyridine- and pyrimidine-based allosteric inhibitors are reported that achieve PDE4D subtype selectivity through recognition of a single amino acid difference on a key regulatory domain, known as UCR2, that opens and closes over the catalytic site for cAMP hydrolysis. The design and optimization of lead compounds was based on iterative analysis of X-ray crystal structures combined with metabolite identification. Selectivity for the activated, dimeric form of PDE4D provided potent memory enhancing effects in a mouse model of novel object recognition with improved tolerability and reduced vascular toxicity over earlier PDE4 inhibitors that lack subtype selectivity. The lead compound, 28 (BPN14770), has entered midstage, human phase 2 clinical trials for the treatment of Fragile X Syndrome.
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8. Hadoush H, Alafeef M, Abdulhay E. {{Brain Complexity in Children with Mild and Severe Autism Spectrum Disorders: Analysis of Multiscale Entropy in EEG}}. {Brain topography}. 2019.
Multiscale entropy (MSE) model quantifies the complexity of brain functions by measuring the entropy across multiple time-scales. Although MSE model has been applied in children with Autism spectrum disorders (ASD) in previous studies, they were limited to distinguish children with ASD from those normally developed without corresponding severity level of their autistic features. Therefore, we aims to explore and to identify the MSE features and patterns in children with mild and severe ASD by using a high dense 64-channel array EEG system. This study is a cross-sectional study, where 36 children with ASD were recruited and classified into two groups: mild and severe ASD (18 children in each). Three calculated outcomes identified brain complexity of mild and severe ASD groups: averaged MSE values, MSE topographical cortical representation, and MSE curve plotting. Averaged MSE values of children with mild ASD were higher than averaged MSE value in children with severe ASD in right frontal (0.37 vs. 0.22, respectively, p = 0.022), right parietal (0.31 vs. 0.13, respectively, p = 0.017), left parietal (0.37 vs. 0.17, respectively, p = 0.018), and central cortical area (0.36 vs. 0.21, respectively, p = 0.026). In addition, children with mild ASD showed a clear and more increase in sample entropy values over increasing values of scale factors than children with severe ASD. Obtained data showed different brain complexity (MSE) features, values and topographical representations in children with mild ASD compared with those with severe ASD. As a result of this, MSE could serve as a sensitive method for identifying the severity level of ASD.
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9. Huang XQ, Zhang H, Chen S. {{Neuropsychiatric Symptoms, Parenting Stress and Social Support in Chinese Mothers of Children with Autism Spectrum Disorder}}. {Current medical science}. 2019; 39(2): 291-7.
Although little is known about the current situation regarding autism spectrum disorder (ASD) in mainland China, psychiatric disorders are common among Chinese mothers of preschool children with ASD. Previous studies showed ASD child’s behavioral symptoms, maternal anxiety, and maternal depressive symptoms were associated with overall parenting stress in northern China. In the present study, we retrospectively analyzed medical records at the hospital related to neuropsychiatric symptoms, parenting stress and social support in mothers of children with ASD from southern China. A total of 80 mothers of children with ASD were screened. Among them, 34 mothers were in low-functioning ASD group (L-ASD group) and 46 mothers were in high-functioning ASD group (H-ASD group). Identification of the ASD cases was confirmed with a Revised Autism Diagnostic Inventory. Neuropsychiatric symptoms, parenting stress and social support were measured by neuropsychiatric inventory (NPI), parenting stress index short form (PSI-SF), and multi-dimensional scale of perceived social support (MSPSS). Total mean score of the NPI in the L-ASD group was significantly higher than that in the H-ASD group (P<0.01). The subscale scores of NPI, including depression, anxiety, apathy, irritability, agitation, night time behavior disturbances and change in appetite were significantly higher in the L-ASD group than those in the H-ASD group (P<0.01 or P<0.05). Meanwhile, the total PSI-SF scores and the scores of parental distress (PD), parental-child dysfunctional interaction (PCDI) and difficult child (DC) in the L-ASD group were significantly higher than those in the H-ASD group (P<0.01 or P<0.05). The total score of MSPSS was also higher in the L-ASD group than in the H-ASD group (P<0.01). This study goes further to show the neuropsychiatric symptoms and parenting stress are significantly higher in mothers of children with ASD, and more social supports are needed for mothers of children with ASD from southern China, especially for mothers of children with low-functioning ASD. Lien vers le texte intégral (Open Access ou abonnement)
10. Kadlaskar G, Seidl A, Tager-Flusberg H, Nelson CA, Keehn B. {{Atypical Response to Caregiver Touch in Infants at High Risk for Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2019.
Atypical response to tactile input is associated with greater socio-communicative impairments in individuals with autism spectrum disorder (ASD). The current study examined overt orienting to caregiver-initiated touch in 12-month-olds at high risk for ASD (HRA) with (HRA+) and without (HRA-) a later diagnosis of ASD compared to low-risk comparison infants. Findings indicate that infants that go on to receive a diagnosis of ASD may more frequently fail to shift their attention in response to caregiver touch and when they do, they may be more likely to orient away from touch. Additionally, failure to respond to touch predicts ADOS severity scores at outcome suggesting that atypical response to touch may be an early indicator of autism severity.
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11. Liu J, Wan GB, Huang MS, Agyapong G, Zou TL, Zhang XY, Liu YW, Song YQ, Tsai YC, Kong XJ. {{Probiotic Therapy for Treating Behavioral and Gastrointestinal Symptoms in Autism Spectrum Disorder: A Systematic Review of Clinical Trials}}. {Current medical science}. 2019; 39(2): 173-84.
The therapeutic potentials of probiotics in autism spectrum disorder (ASD) remains controversial, with the only existing systematic review on this topic published in 2015. Results from new trials have become available in recent years. We therefore conducted an updated systematic review, to assess the efficacy of probiotics in relieving behavioral symptoms of ASD and gastrointestinal comorbidities. Our review includes two randomized controlled trials, which showed improvement of ASD behaviors, and three open trials, all which exhibited a trend of improvement. Four of these trials concluded from subjective measures that gastrointestinal function indices showed a trend of improvement with probiotic therapy. Additional rigorous trials are needed to evaluate the effects of probiotic supplements in ASD.
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12. Marks B, Sisirak J, Chang YC, Murphy R. {{Impact of the HealthMatters Train-the-Trainer Program on the Health and Health Behaviors of Staff Supporting Adults With Intellectual and Developmental Disabilities}}. {Workplace health & safety}. 2019: 2165079919828739.
The health status and health behaviors among support staff providing daily support for people with intellectual and developmental disabilities (IDD-SS) in community-based organizations (CBOs) have not been systematically studied. This study examined the health impact of IDD-SS workers who participated in a HealthMatters Program: Train-the-Trainer Certified Instructor Workshop followed by implementing a 12-week HealthMatters Program for people with intellectual and developmental disabilities (IDD) that they care for as part of their employment. A total of 48 IDD-SS were enrolled into either an intervention ( n = 28) or control group ( n = 20). IDD-SS in the intervention group received an 8-hour HealthMatters Program: Train-the-Trainer Workshop immediately prior to teaching a 12-week HealthMatters Program for people with IDD. Assessments were conducted with IDD-SS before and after completing the 12-week HealthMatters Program to evaluate whether IDD-SS experienced any benefit of the training and teaching the program on their own health and health behaviors. Relative to the control group, the IDD-SS in the intervention group showed significant improvements in social/environmental supports for nutrition ( F = 4.92, p = .032), exercise outcome expectations ( F = 6.58, p = .014), nutrition outcome expectations ( F = 8.87, p = .005), fruit and vegetable intake ( F = 13.62, p = .001), knowledge of fruit and vegetable intake recommendations ( F = 11.25, p = .002), and stages of change for eating fruits and vegetables ( F = 6.86, p = .012). Results demonstrated that IDD-SS benefited from the health education programming. Findings support the need to develop programs and organizational policies for health promotion activities for direct care staff.
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13. McClain MB, Harris B, Schwartz SE, Benallie KJ, Golson ME, Benney CM. {{Brief Report: Development and Validation of the Autism Spectrum Knowledge Scale General Population Version: Preliminary Analyses}}. {J Autism Dev Disord}. 2019.
Despite the dramatic rise in Autism Spectrum Disorder (ASD) prevalence, limited information is known about ASD knowledge of the general population. The Autism Spectrum Knowledge Scale, General Population version (ASKSG) was collaboratively constructed to create a measure of ASD knowledge specifically for the general population. The ASKSG is a 31-item measure that assesses one’s knowledge and understanding of ASD. Adults in the general population participated in the current study (N = 318). Findings indicate that the ASKSG is a valid and reliable measure and can adequately measure ASD knowledge in this population. A greater understanding of general population knowledge pertaining to ASD can be used to better inform identification, intervention, and advocacy, thus improving the outcomes for individuals with ASD.
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14. McKernan EP, Wu Y, Russo N. {{Sensory Overresponsivity as a Predictor of Amplitude Discrimination Performance in Youth with ASD}}. {J Autism Dev Disord}. 2019.
Previous studies have suggested that sensory overresponsivity in youth with autism spectrum disorder (ASD) may be due to a failure to habituate to stimuli. We examined the relationship between performance on three tactile psychophysical tasks and the construct of sensory overresponsivity in children with and without ASD. Sensory overresponsivity predicted amplitude discrimination with an adapting stimulus, as well as the effect of adaptation, for ASD youth. Results replicate previous research that children with ASD are less affected by the presence of an adapting stimulus as compared to typically developing children, and further suggest that sensory overresponsivity may be the mechanism underlying the observed lack of an adaptation effect in children with ASD.
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15. Mohammadi F, Rakhshan M, Molazem Z, Zareh N, Gillespie M. {{Development of parental competence scale in parents of children with autism}}. {Journal of pediatric nursing}. 2019.
PURPOSE: The purpose of this study is to develop and psychometrically of parental competence scale in parents of children with autism. DESIGN & METHODS: This mixed-methods design with a sequential exploratory approach was conducted in May 2017 until June 2018 in the south of Iran. In the first phase, a conventional content analysis method was performed with the participation of 16 parents of children with autism. Interviews were held in the autism association offices in an urban area of Iran. In the second phase, validity and reliability of this instrument were assessed with 300 parents of children with autism. RESULTS: During content validity testing, 12 items were deleted. Content validity ratio and index were 0.75 and 0.85, respectively. In face validity, impact scores for all items were reported as >1.5. Factor analysis led to the development of a 2-factor solution accounting for 71.4% of the observed variance. Reliability of the instrument using the calculation of the Cronbach’s alpha coefficient was reported as 0.98 for the entire instrument. No statistically significant difference was reported between the pre and post-test scores of parental competence (p=0.46). The parental competence scale demonstrated acceptable psychometric properties. CONCLUSION: The parental competence scale demonstrated acceptable psychometric properties. Therefore, this scale can be used for assessing parental competence in parents of children with autism. PRACTICE IMPLICATIONS: This scale can be used in future research and for educational and practical purposes with the aim of identifying parents’ issues and improving the quality of life of parents of children with autism.
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16. Moseley RL, Gregory NJ, Smith P, Allison C, Baron-Cohen S. {{A ‘choice’, an ‘addiction’, a way ‘out of the lost’: exploring self-injury in autistic people without intellectual disability}}. {Mol Autism}. 2019; 10: 18.
Background: Non-suicidal self-injury (NSSI) describes a phenomenon where individuals inflict deliberate pain and tissue damage to their bodies. Self-injurious behaviour is especially prevalent across the autism spectrum, but little is understood about the features and functions of self-injury for autistic individuals without intellectual disability, or about the risk factors that might be valuable for clinical usage in this group. Methods: One hundred and three autistic adults who responded to an online advertisement were classified as current, historic or non-self-harmers in accordance with responses to the Non-Suicidal Self-Injury Assessment Tool (NSSI-AT). Multinomial regression aimed to predict categorisation of participants in accordance with scores on tests of autistic traits, alexithymia, depression, anxiety, mentalising and sensory sensitivity. Linear regression examined relationships between these predictors and the range, frequency, lifetime occurrence and functional purposes of NSSI. Qualitative analysis explored the therapeutic interventions that participants had found helpful, and what they wished people understood about self-injury. Results: Current, historic and non-self-harming participants did not differ in age, age at diagnosis, male-to-female ratio, level of employment or education (the majority qualified to at least degree level). The most common function of NSSI was the regulation of low-energy affective states (depression, dissociation), followed by the regulation of high-energy states such as anger and anxiety. Alexithymia significantly predicted the categorisation of participants as current, historic or non-self-harmers, and predicted use of NSSI for regulating high-energy states and communicating distress to others. Depression, anxiety and sensory-sensitivity also differentiated participant groups, and sensory differences also predicted the range of bodily areas targeted, lifetime incidence and frequency of NSSI. Sensory differences, difficulty expressing and identifying emotions also emerged as problematic in the qualitative analysis, where participants expressed the need for compassion, patience, non-judgement and the need to recognise diversity between self-harmers, with some participants perceiving NSSI as a practical, non-problematic coping strategy. Conclusions: Alexithymia, depression, anxiety and sensory differences may place some autistic individuals at especial risk of self-injury. Investigating the involvement of these variables and their utility for identification and treatment is of high importance, and the voices of participants offer guidance to practitioners confronted with NSSI in their autistic clients.
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17. Ritz B, Liew Z, Yan Q, Cui X, Virk J, Ketzel M, Raaschou-Nielsen O. {{Air pollution and Autism in Denmark}}. {Environmental epidemiology (Philadelphia, Pa)}. 2018; 2(4).
Background: Previous autism spectrum disorder (ASD) and air pollution studies focused on pregnancy exposures, but another vulnerable period is immediate postnatally. Here, we examined early life exposures to air pollution from the pre- to the postnatal period and ASD/ASD subtypes in the Danish population. Methods: With Danish registers, we conducted a nationwide case-control study of 15,387 children with ASD born 1989-2013 and 68,139 population controls matched by birth year and sex identified from the birth registry. We generated air dispersion model (AirGIS) estimates for NO2, SO2, PM2.5 and PM10 at mothers’ home from 9 months before to 9 months after pregnancy and calculated odds ratios (OR) and 95% confidence intervals (CI), adjusting for parental age, neighborhood socio-economic indicators, and maternal smoking using conditional logistic regression. Results: In models that included all exposure periods, we estimated adjusted ORs for ASD per interquartile range (IQR) increase for 9 month after pregnancy with NO2 of 1.08 (95% CI: 1.01, 1.15) and with PM2.5 of 1.06 (95% CI: 1.01, 1.11); associations were smaller for PM10 (1.04; 95% CI: 1.00, 1.09) and strongest for SO2 (1.21; 95% CI: 1.13, 1.29). Also, associations for pollutants were stronger in more recent years (2000-2013) and in larger cities compared with provincial towns/rural counties. For particles and NO2, associations were only specific to autism and Asperger diagnoses. Conclusion: Our data suggest that air pollutant exposure in early infancy but not during pregnancy increases the risk of being diagnosed with autism and Asperger among children born in Denmark.
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18. Siracusano M, Riccioni A, Baratta A, Baldi M, Curatolo P, Mazzone L. {{Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report}}. {Journal of medical case reports}. 2019; 13(1): 100.
BACKGROUND: Greig cephalopolysyndactyly syndrome is a rare multiple congenital anomaly syndrome characterized by the triad of polysyndactyly (preaxial or mixed preaxial and postaxial), macrocephaly, and ocular hypertelorism. Little is known about the neuropsychological phenotype and the developmental features of this syndrome. CASE PRESENTATION: We describe the clinical features of a 7-year-old Italian white boy affected by Greig cephalopolysyndactyly syndrome in comorbidity with autism spectrum disorder and the case of his 45-year-old white father, carrying the same point deletion (c.3677del) in the GLI3 gene and showing subclinical autistic symptoms. We performed a neuropsychiatric assessment of cognitive, adaptive, socio-communicative, and behavioral skills of the child. Concurrently, the father underwent his first psychiatric evaluation of cognitive skills and autistic symptoms. CONCLUSIONS: We report the first clinical description of an association between autistic symptoms and Greig cephalopolysyndactyly syndrome in two members of the same family with the same genetic point deletion. Further research is required in order to draw an accurate conclusion regarding the association between Greig cephalopolysyndactyly syndrome and autism.
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19. Smith IN, Thacker S, Seyfi M, Cheng F, Eng C. {{Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer}}. {Am J Hum Genet}. 2019.
Individuals with germline PTEN tumor-suppressor variants have PTEN hamartoma tumor syndrome (PHTS). Clinically, PHTS has variable presentations; there are distinct subsets of PHTS-affected individuals, such as those diagnosed with autism spectrum disorder (ASD) or cancer. It remains unclear why mutations in one gene can lead to such seemingly disparate phenotypes. Therefore, we sought to determine whether it is possible to predict a given PHTS-affected individual’s a priori risk of ASD, cancer, or the co-occurrence of both phenotypes. By integrating network proximity analysis performed on the human interactome, molecular simulations, and residue-interaction networks, we demonstrate the role of conformational dynamics in the structural communication and long-range allosteric regulation of germline PTEN variants associated with ASD or cancer. We show that the PTEN interactome shares significant overlap with the ASD and cancer interactomes, providing network-based evidence that PTEN is a crucial player in the biology of both disorders. Importantly, this finding suggests that a germline PTEN variant might perturb the ASD or cancer networks differently, thus favoring one disease outcome at any one time. Furthermore, protein-dynamic structural-network analysis reveals small-world structural communication mediated by highly conserved functional residues and potential allosteric regulation of PTEN. We identified a salient structural-communication pathway that extends across the inter-domain interface for cancer-only mutations. In contrast, the structural-communication pathway is predominantly restricted to the phosphatase domain for ASD-only mutations. Our integrative approach supports the prediction and potential modulation of the relevant conformational states that influence structural communication and long-range perturbations associated with mutational effects that lead to PTEN-ASD or PTEN-cancer phenotypes.
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20. Xiao Z, Wu J, Wang C, Jia N, Yang X. {{Computer-aided diagnosis of school-aged children with ASD using full frequency bands and enhanced SAE: A multi-institution study}}. {Experimental and therapeutic medicine}. 2019; 17(5): 4055-63.
Autism spectrum disorder (ASD) is a neurodevelopmental and network-level disorder mainly diagnosed in children. The aim of the current study was to develop a computer-aided diagnosis method with high accuracy to distinguish school-aged children (5-12 years) with ASD from those typically developing (TD). The current study used multi-institutional functional magnetic resonance imaging (fMRI) datasets of 198 school-aged participants from the Autism Brain Imaging Data Exchange II database and employed enhanced stacked auto-encoders to distinguish between school-aged children with ASD from those TD. In the current study, the average diagnostic accuracy was 96.26% (average sensitivity=98.03%; average specificity=93.62%); these results of classification were higher than that observed in previous studies using single or two frequency bands. The current study demonstrated that the proposed computer-aided diagnosis method may be used to distinguish between school-aged children with ASD from those TD. Attempts to use full frequency bands, deep learning based algorithm and multi-institutional fMRI datasets to distinguish between school-aged children with ASD from TD may be a key step towards clinical auxiliary diagnosis independent of sex, handedness, intellectual level or scanning parameters of fMRI data.
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21. Yingling ME, Bell BA. {{Underutilization of Early Intensive Behavioral Intervention Among 3-Year-Old Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2019.
Funding for early intensive behavioral intervention (EIBI) for children with autism spectrum disorder is rapidly expanding. Yet we know little about children’s utilization, and research on inequities in utilization is lacking. We examined the relationship between utilization during the first year of EIBI and (a) child race-ethnicity and (b) neighborhood characteristics. Using a sample of children eligible for a Medicaid waiver through a novel policy of presumptive eligibility (N = 108), we estimated a series of two-level growth curve models. Children’s average utilization ranged between 24 and 48% of weekly hours, and utilization did not differ by race-ethnicity or neighborhood during the first year. Findings underscore the need to monitor utilization of EIBI and warrant research on the feasibility of EIBI provision in the general population.
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22. Zeidan J, Shikako-Thomas K, Ehsan A, Maioni A, Elsabbagh M. {{Progress and gaps in Quebec’s autism policy: a comprehensive review and thematic analysis}}. {Canadian journal of public health = Revue canadienne de sante publique}. 2019.
OBJECTIVE: Consistent with a national and global trend, prevalence estimates of autism have risen steadily in Quebec, causing concerns regarding quality and availability of diagnostic and intervention services as well as policies guiding service delivery and their efficacy. We conducted an analysis of Quebec’s autism policies to determine recent advances, challenges and gaps in the planning and delivery of provincial autism services. METHODS: We identify autism policy priorities in Quebec through a comprehensive review and a thematic analysis of past and present policies, consider their compliance with national and international human rights and health frameworks and identify policy gaps. RESULTS: Autism policies articulated at a provincial level in Quebec are comprehensive, well grounded in international and national frameworks and considerate of existing barriers in the systems. Quebec policies reflect long-standing recognition of many barriers affecting service utilization and quality. Root cause of challenges currently confronting the policy environment in Quebec includes limitations in: specific measures to enhance a person-centred approach across the lifespan, evaluation of economic costs associated with autism, utilization of research evidence, and enactment of policies. CONCLUSION: Early intervention services, building capacity in existing resources through training programs, and integrating research through research translation initiatives can help the Quebec government improve the quality and efficacy of services while reducing long-term costs to the systems and promoting quality of life for individuals with autism and their families.
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23. Zhu Y, Mordaunt CE, Yasui DH, Marathe R, Coulson RL, Dunaway KW, Jianu JM, Walker CK, Ozonoff S, Hertz-Picciotto I, Schmidt RJ, LaSalle JM. {{Placental DNA methylation levels at CYP2E1 and IRS2 are associated with child outcome in a prospective autism study}}. {Hum Mol Genet}. 2019.
DNA methylation acts at the interface of genetic and environmental factors relevant for autism spectrum disorder (ASD). Placenta, normally discarded at birth, is a potentially rich source of DNA methylation patterns predictive of ASD in the child. Here, we performed whole methylome analyses of placentas from a prospective study MARBLES (Markers of Autism Risk in Babies-Learning Early Signs) of high-risk pregnancies. 400 differentially methylated regions (DMRs) discriminated placentas stored from children later diagnosed with ASD compared to typically developing controls. These ASD DMRs were significantly enriched at promoters, mapped to 596 genes functionally enriched in neuronal development, and overlapped genetic ASD risk. ASD DMRs at CYP2E1 and IRS2 reached genome-wide significance, replicated by pyrosequencing, and correlated with expression differences in brain. Methylation at CYP2E1 associated with both ASD diagnosis and genotype within the DMR. In contrast, methylation at IRS2 was unaffected by within DMR genotype, but modified by preconceptional maternal prenatal vitamin use. This study therefore identified two potentially useful early epigenetic markers for ASD in placenta.
