Pubmed du 11/02/20

mardi 11 février 2020

1. Corrigendum to Integrating a New Online Autism Screening Tool in Primary Care to Lower the Age of Referral. Clin Pediatr (Phila) ;2020 (Feb 11):9922820908160.

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2. Carlier S, Van der Paelt S, Ongenae F, De Backere F, De Turck F. Empowering Children with ASD and Their Parents : Design of a Serious Game for Anxiety and Stress Reduction. Sensors (Basel) ;2020 (Feb 11) ;20(4)

Autism Spectrum Disorder (ASD) is characterized by social interaction difficulties and communication difficulties. Moreover, children with ASD often suffer from other co-morbidities, such as anxiety and depression. Finding appropriate treatment can be difficult as symptoms of ASD and co-morbidities often overlap. Due to these challenges, parents of children with ASD often suffer from higher levels of stress. This research aims to investigate the feasibility of empowering children with ASD and their parents through the use of a serious game to reduce stress and anxiety and a supporting parent application. The New Horizon game and the SpaceControl application were developed together with therapists and according to guidelines for e-health patient empowerment. The game incorporates two mini-games with relaxation techniques. The performance of the game was analyzed and usability studies with three families were conducted. Parents and children were asked to fill in the Spence’s Children Anxiety Scale (SCAS) and Spence Children Anxiety Scale-Parents (SCAS-P) anxiety scale. The game shows potential for stress and anxiety reduction in children with ASD.

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3. Dubois A, Boudjarane M, Le Fur-Bonnabesse A, Dion A, L’Heveder G, Quinio B, Walter M, Marchand S, Bodere C. Pain Modulation Mechanisms in ASD Adults. J Autism Dev Disord ;2020 (Feb 10)

We tested endogenous pain modulation mechanisms in adults with autism spectrum disorders (ASD). Nineteen ASD adults without intellectual disabilities were included, matched with 19 healthy volunteers on the basis of sex and chronological age. An experimental pain model was used to measure excitatory and inhibitory pain mechanisms in a single session. Statistical analyses indicated that endogenous pain modulation mechanisms in ASD group did not differ significantly from those of healthy adults. The pain scores were very disparate in ASD group with a greater range of extreme scores than in control group. Unlike schizophrenic patients, there was no systematic dysfunction of endogenous excitatory pain modulation mechanisms, but the high variability requires to be wise to interpret the results and formulate conclusion.

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4. Fombonne E, Goin-Kochel RP, O’Roak BJ. Beliefs in vaccine as causes of autism among SPARK cohort caregivers. Vaccine ;2020 (Feb 11) ;38(7):1794-1803.

BACKGROUND : Fear of autism has led to a decline in childhood-immunization uptake and to a resurgence of preventable infectious diseases. Identifying characteristics of parents who believe in a causal role of vaccines for autism spectrum disorder (ASD) in their child may help targeting educational activities and improve adherence to the immunization schedule. OBJECTIVES : To compare caregivers of children with ASD who agree or disagree that vaccines play an etiological role in autism for 1) socio-demographics characteristics and 2) developmental and clinical profiles of their children. METHODS : Data from 16,525 participants with ASD under age 18 were obtained from SPARK, a national research cohort started in 2016. Caregivers completed questionnaires at registration that included questions on beliefs about the etiologic role of childhood immunizations and other factors in ASD. Data were available about family socio-demographic characteristics, first symptoms of autism, developmental regression, co-occurring psychiatric disorders, seizures, and current levels of functioning. RESULTS : Participants with ASD were 80.4% male with a mean age of 8.1years (SD=4.1). Overall, 16.5% of caregivers endorsed immunizations as perceived causes of autism. Compared to caregivers who disagreed with vaccines as a cause for ASD, those who believed in vaccine causation came disproportionately from ethnic minority, less educated, and less wealthy backgrounds. More often their children had experienced developmental regression involving language and other skills, were diagnosed earlier, had lost skills during the second year of life, and had worse language, adaptive, and cognitive outcomes. CONCLUSION : One in six caregivers who participate in a national research cohort believe that child immunizations could be a cause of autism in their child. Parent social background (non-White, less educated) and child developmental features (regression in second year, poorer language skills, and worse adaptive outcomes) index caregivers who are more likely to harbor these beliefs and could benefit from targeted educational activities.

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5. Fourie E, Palser ER, Pokorny JJ, Neff M, Rivera SM. Neural Processing and Production of Gesture in Children and Adolescents With Autism Spectrum Disorder. Front Psychol ;2019 ;10:3045.

Individuals with autism spectrum disorder (ASD) demonstrate impairments in non-verbal communication, including gesturing and imitation deficits. Reduced sensitivity to biological motion (BM) in ASD may impair processing of dynamic social cues like gestures, which in turn may impede encoding and subsequent performance of these actions. Using both an fMRI task involving observation of action gestures and a charade style paradigm assessing gesture performance, this study examined the brain-behavior relationships between neural activity during gesture processing, gesturing abilities and social symptomology in a group of children and adolescents with and without ASD. Compared to typically developing (TD) controls, participants with ASD showed atypical sensitivity to movement in right posterior superior temporal sulcus (pSTS), a region implicated in action processing, and had poorer overall gesture performance with specific deficits in hand posture. The TD group showed associations between neural activity, gesture performance and social skills, that were weak or non-significant in the ASD group. These findings suggest that those with ASD demonstrate abnormalities in both processing and production of gestures and may reflect dysfunction in the mechanism underlying perception-action coupling resulting in atypical development of social and communicative skills.

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6. Kent C, Cordier R, Joosten A, Wilkes-Gillan S, Bundy A. Can We Play Together ? A Closer Look at the Peers of a Peer-Mediated Intervention to Improve Play in Children with Autism Spectrum Disorder. J Autism Dev Disord ;2020 (Feb 10)

Peer-mediated interventions (PMIs) are often used to support children with autism spectrum disorder (ASD) to develop social skills. However, more investigation is needed to better understand the role of peers as both intervention recipients and models. Sixty-five typically developing peers who participated in a PMI for children with ASD were investigated using a randomised control trial. Play sessions of the dyads were scored using the Test of Playfulness. Results showed a significant moderate intervention effect for the peers from pre- to post-intervention ; outcomes for children with ASD were not influenced by peer characteristics ; and, the children demonstrated a similar pattern of play interaction. Implications for practice are discussed.Clinical Trials Registry Australian New Zealand Clinical Trials Registry, https://www.anzctr.org.au/ (ACTRN12615000008527 ; Universal Trial Number : U1111-1165-2708).

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7. Kinard JL, Mosner MG, Greene RK, Addicott M, Bizzell J, Petty C, Cernasov P, Walsh E, Eisenlohr-Moul T, Carter RM, McLamb M, Hopper A, Sukhu R, Dichter GS. Neural Mechanisms of Social and Nonsocial Reward Prediction Errors in Adolescents with Autism Spectrum Disorder. Autism Res ;2020 (Feb 11)

Autism spectrum disorder (ASD) is characterized by impaired predictive abilities ; however, the neural mechanisms subsuming reward prediction errors in ASD are poorly understood. In the current study, we investigated neural responses during social and nonsocial reward prediction errors in 22 adolescents with ASD (ages 12-17) and 20 typically developing control adolescents (ages 12-18). Participants performed a reward prediction error task using both social (i.e., faces) and nonsocial (i.e., objects) rewards during a functional magnetic resonance imaging scan. Reward prediction errors were defined in two ways : (a) the signed prediction error, the difference between the experienced and expected reward ; and (b) the thresholded unsigned prediction error, the difference between expected and unexpected outcomes regardless of magnitude. During social reward prediction errors, the ASD group demonstrated the following differences relative to the TD group : (a) signed prediction error : decreased activation in the right precentral gyrus and increased activation in the right frontal pole ; and (b) thresholded unsigned prediction error : increased activation in the right anterior cingulate gyrus and bilateral precentral gyrus. Groups did not differ in brain activation during nonsocial reward prediction errors. Within the ASD group, exploratory analyses revealed that reaction times and social-communication impairments were related to precentral gyrus activation during social prediction errors. These findings elucidate the neural mechanisms of social reward prediction errors in ASD and suggest that ASD is characterized by greater neural atypicalities during social, relative to nonsocial, reward prediction errors in ASD. LAY SUMMARY : We used brain imaging to evaluate differences in brain activation in adolescents with autism while they performed tasks that involved learning about social and nonsocial information. We found no differences in brain responses during the nonsocial condition, but differences during the social condition of the learning task. This study provides evidence that autism may involve different patterns of brain activation when learning about social information.

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8. Koukouriki E, Soulis SG. Self-reported Health-Related Quality of Life (HRQOL) and Anxiety Among Greek School-Age Siblings of Individuals with Autism Spectrum Disorders (ASD) in Relation to Parental Mental Health and Social Support. J Autism Dev Disord ;2020 (Feb 10)

Health-Related Quality of Life (HRQOL) and anxiety were measured in 233 school-age siblings of individuals with Autism Spectrum Disorders (ASD) and siblings of Typically Developing (TD) children in Greece. The aim of the study was to investigate for any association between siblings’ HRQOL or anxiety and parental mental health, perceived social support as well as major demographic factors. It was found that the disability group (ASD-sibs) showed elevated anxiety levels and poorer HRQOL than controls. In hierarchical multiple regression models, the anxiety of ASD-sibs was significantly associated with parental anxiety independent of parental perceived social support and demographic factors, whereas the HRQOL of ASD-sibs was associated with perceived social support independent of parental physical and mental health and demographic factors.

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9. Laycock R, Wood K, Wright A, Crewther SG, Goodale MA. Saccade Latency Provides Evidence for Reduced Face Inversion Effects With Higher Autism Traits. Front Hum Neurosci ;2019 ;13:470.

Individuals on the autism spectrum are reported to show impairments in the processing of social information, including aspects of eye-movements towards faces. Abnormalities in basic-level visual processing are also reported. In the current study, we sought to determine if the latency of saccades made towards social targets (faces) in a natural scene as opposed to inanimate targets (cars) would be related to sub-clinical autism traits (ATs) in individuals drawn from a neurotypical population. The effect of stimulus inversion was also examined given that difficulties with processing inverted faces are thought to be a function of face expertise. No group differences in saccadic latency were established for face or car targets, regardless of image orientation. However, as expected, we found that individuals with higher autism-like traits did not demonstrate a saccadic face inversion effect, but those with lower autism-like traits did. Neither group showed a car inversion effect. Thus, these results suggest that neurotypical individuals with high autism-like traits also show anomalies in detecting and orienting to faces. In particular, the reduced saccadic face inversion effect established in these participants with high ATs suggests that speed of visual processing and orienting towards faces may be associated with the social difficulties found across the broader autism spectrum.

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10. Masefield SC, Prady SL, Sheldon TA, Small N, Jarvis S, Pickett KE. The Caregiver Health Effects of Caring for Young Children with Developmental Disabilities : A Meta-analysis. Matern Child Health J ;2020 (Feb 11)

OBJECTIVES : Mothers of school age and older children with developmental disabilities experience poorer health than mothers of typically developing children. This review assesses the evidence for the effect on mothers’ health of caring for young children with developmental disabilities, and the influence of different disability diagnoses and socioeconomic status. METHODS : Medline, EMBASE, PsycINFO and CINAHL were searched. Studies measuring at least one symptom, using a quantitative scale, in mothers of preschool children (0-5 years) with and without a diagnosed developmental disability were selected. Random effects meta-analysis was performed, and predictive intervals reported due to high expected heterogeneity. RESULTS : The meta-analysis included 23 estimates of association from 14 retrospective studies for the outcomes of stress (n = 11), depressive symptoms (n = 9), general health (n = 2) and fatigue (n = 1). Caring for a child with a developmental disability was associated with greater ill health (standardised mean difference 0.87 ; 95% predictive interval - 0.47, 2.22). The largest association was for mixed developmental disabilities (1.36 ; - 0.64, 3.36) and smallest for Down syndrome (0.38 ; - 2.17, 2.92). There was insufficient socioeconomic information to perform subgroup analysis. The small number of studies and data heterogeneity limited the precision of the estimates of association and generalizability of the findings. CONCLUSIONS FOR PRACTICE : Mothers of young children with developmental disabilities may have poorer health than those with typically developing children. Research is needed to identify whether the relationship is causal and, if so, interventions that could reduce the negative effect of caregiving.

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11. McCullagh EA, Rotschafer SE, Auerbach BD, Klug A, Kaczmarek LK, Cramer KS, Kulesza RJ, Jr., Razak KA, Lovelace JW, Lu Y, Koch U, Wang Y. Mechanisms underlying auditory processing deficits in Fragile X syndrome. Faseb j ;2020 (Feb 10)

Autism spectrum disorders (ASD) are strongly associated with auditory hypersensitivity or hyperacusis (difficulty tolerating sounds). Fragile X syndrome (FXS), the most common monogenetic cause of ASD, has emerged as a powerful gateway for exploring underlying mechanisms of hyperacusis and auditory dysfunction in ASD. This review discusses examples of disruption of the auditory pathways in FXS at molecular, synaptic, and circuit levels in animal models as well as in FXS individuals. These examples highlight the involvement of multiple mechanisms, from aberrant synaptic development and ion channel deregulation of auditory brainstem circuits, to impaired neuronal plasticity and network hyperexcitability in the auditory cortex. Though a relatively new area of research, recent discoveries have increased interest in auditory dysfunction and mechanisms underlying hyperacusis in this disorder. This rapidly growing body of data has yielded novel research directions addressing critical questions regarding the timing and possible outcomes of human therapies for auditory dysfunction in ASD.

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12. Moseley RL, Gregory NJ, Smith P, Allison C, Baron-Cohen S. Links between self-injury and suicidality in autism. Mol Autism ;2020 (Feb 10) ;11(1):14.

BACKGROUND : Autistic individuals without intellectual disability are at heightened risk of self-injury, and appear to engage in it for similar reasons as non-autistic people. A wide divergence of autistic perspectives on self-injury, including those who frame it as a helpful coping mechanism, motivate investigating the link between self-injury, suicide ideation, and attempts which has been reported in typically developing individuals. METHOD : One hundred three autistic participants completed the Non-Suicidal Self-Injury Assessment Tool (NSSI-AT), the Suicide Behaviors Questionnaire (SBQ-R), and the Interpersonal Social Evaluation List (ISEL-12) across two online studies. Logistic regression was conducted to predict self-harming status via responses to questions on suicidality, and to predict whether certain self-injurious behaviors, including cutting, were especially associated with suicide ideation and attempts. Non-parametric correlation analysis examined relationships between suicide ideation/attempts and other variables that might characterize self-harmers especially at risk of suicidality. These included perceived access to social support, purposes or reasons for self-injury, the number of different self-injurious behaviors engaged in, the duration and lifetime incidence of self-injury, and the individual’s feelings about their self-injury. RESULTS : While self-injuring status was significantly predicted by responses to a question on suicide ideation and attempts, there was no relationship between suicide ideation/attempts and a participant’s personal feelings about their self-injury. The method of cutting was also predicted by suicide ideation and attempts, though other methods common in autistic people were at borderline significance. Use of self-injury for the regulation of low-energy emotional states like depression, for self-punishment or deterrence from suicide, and for sensory stimulation, was associated with suicide ideation and attempts, as was the number of self-injurious behaviors engaged in. There was no significant relationship between suicide ideation/attempts and the duration and lifetime incidence of self-injury or social support. CONCLUSIONS : These preliminary data suggest that while individuals might frame their self-injury as a positive or neutral thing, there remains a concerning relationship between self-injury and suicidality which exists regardless of individual feelings on self-injury. This is consistent with the theoretical perspective that self-injury can be a "gateway" through which individuals acquire capability for lethal suicidal behaviors. The data highlight that particular methods (cutting) and reasons for self-injury may be of significant concern, but this information, which might be of extreme value for clinicians, requires further investigation and validation.

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13. Page J, Lustenberger C, Frhlich F. Nonrapid eye movement sleep and risk for autism spectrum disorder in early development : A topographical electroencephalogram pilot study. Brain Behav ;2020 (Feb 9):e01557.

OBJECTIVE : Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder that emerges in the beginning years of life (12-48 months). Yet, an early diagnosis of ASD is challenging as it relies on the consistent presence of behavioral symptomatology, and thus, many children are diagnosed later in development, which prevents early interventions that could benefit cognitive and social outcomes. As a result, there is growing interest in detecting early brain markers of ASD, such as in the electroencephalogram (EEG) to elucidate divergence in early development. Here, we examine the EEG of nonrapid eye movement (NREM) sleep in the transition from infancy to toddlerhood, a period of rapid development and pronounced changes in early brain function. NREM features exhibit clear developmental trajectories, are related to social and cognitive development, and may be altered in neurodevelopmental disorders. Yet, spectral features of NREM sleep are poorly understood in infants/toddlers with or at high risk for ASD. METHODS : The present pilot study is the first to examine NREM sleep in 13- to 30-month-olds with ASD in comparison with age-matched healthy controls (TD). EEG was recorded during a daytime nap with high-density array EEG. RESULTS : We found topographically distinct decreased fast theta oscillations (5-7.25 Hz), decreased fast sigma (15-16 Hz), and increased beta oscillations (20-25 Hz) in ASD compared to TD. CONCLUSION : These findings suggest a possible functional role of NREM sleep during this important developmental period and provide support for NREM sleep to be a potential early marker for ASD.

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14. Sappok T, Dosen A, Zepperitz S, Barrett B, Vonk J, Schanze C, Ilic M, Bergmann T, De Neve L, Birkner J, Zaal S, Bertelli MO, Hudson M, Morisse F, Sterkenburg P. Standardizing the assessment of emotional development in adults with intellectual and developmental disability. J Appl Res Intellect Disabil ;2020 (Feb 11)

OBJECTIVE : The Scale of Emotional Development-Short (SED-S) is an instrument to assess the level of emotional development (ED) in people with intellectual and developmental disability. Index cases are developed as a didactic tool to standardize the application of the scale. METHOD : In a stepwise process, a European working group from six countries developed five index cases, one for each level of ED. All cases were first scored by 20 raters using the SED-S and then rephrased to reduce inter-rater variations (SD > 0.5). RESULTS : All five index cases yielded overall ratings that matched the intended level of ED. Across the range of ED, Regulating Affect needed rephrasing most to ensure a distinct description within each level of ED. CONCLUSIONS : The tri-lingual, cross-cultural evolution of five index cases contributes to a standardized application of the SED-S and can serve as training material to improve the inter-rater reliability of the SED-S across different cultures and languages.

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15. Stewart GR, Corbett A, Ballard C, Creese B, Aarsland D, Hampshire A, Charlton RA, Happe F. The Mental and Physical Health of Older Adults With a Genetic Predisposition for Autism. Autism Res ;2020 (Feb 11)

Autism commonly aggregates in families, with twin studies estimating heritability to be around 80%. Subclinical autism-like characteristics have also been found at elevated rates in relatives of autistic probands. Physical and psychiatric conditions have been reported at elevated rates in autistic children and adults, and also in their relatives. However, to date, there has been no exploration of how aging may affect this pattern. This study examined cross-sectional data from the ongoing online PROTECT study. A total of 20,220 adults aged 50 years and older reported whether they have an autistic first-degree relative. In total, 739 older adults reported having an autistic first-degree relative (AFDR group) and 11,666 were identified as having no family history of any neurodevelopmental disorder (NFD group). The AFDR group demonstrated significantly higher frequencies of self-reported psychiatric diagnoses and a greater total number of co-occurring psychiatric diagnoses than the NFD group. Furthermore, the AFDR group reported elevated current self-report symptoms of depression, anxiety, traumatic experience, and post-traumatic stress than the NFD group. By contrast, few differences between AFDR and NFD groups were observed in physical health conditions, and no differences were observed in the total number of co-occurring physical health diagnoses. These findings suggest that adults who have an AFDR may be at greater risk of poor mental, but not physical, health in later life. Older adults with autistic relatives may benefit from close monitoring to mitigate this susceptibility and to provide timely intervention. Autism Res 2020. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Children and adults with an autistic relative have been found to experience more psychiatric difficulties than those with no family links to autism. However, a few studies have explored what happens when these individuals get older. Examining over 20,000 adults age 50+, we found that older adults with an autistic relative experienced elevated rates of most psychiatric conditions but not physical conditions. Older adults with autistic relatives may benefit from close monitoring to mitigate this susceptibility and to provide timely intervention.

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16. Suhumaran S, Yeleswarapu SP, Daniel LM, Wong CM. Congenital blindness and autism spectrum disorder (ASD) : diagnostic challenges and intervention options. BMJ Case Rep ;2020 (Feb 11) ;13(2)

The case of a 6-year-old boy with congenital blindness and features suggestive of autism spectrum disorder (ASD) is reported. He presented to a developmental paediatrician with global developmental delay, worsening self-injurious behaviours and difficulties in social interaction, transitions and interactive play. He demonstrated poor response to his name, rigidity, repetitive behaviours and had a sensory profile suggestive of ASD. This paper discusses the challenges in diagnosing and managing ASD in visually impaired children.

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17. Toma C. Genetic Variation across Phenotypic Severity of Autism. Trends Genet ;2020 (Feb 6)

It is still unclear how genetic factors of autism spectrum disorder (ASD) are implicated in the significant clinical heterogeneity ranging from intellectual disability (ID) to high-functioning profiles. Here, evidence from recent genetic studies encompassing common and rare variants are combined to suggest a genetic model that may explain the broad gradient of phenotypic severity observed in ASD.

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18. Uljarevic M, Cooper MN, Bebbington K, Glasson EJ, Maybery MT, Varcin K, Alvares GA, Wray J, Leekam SR, Whitehouse AJO. Deconstructing the repetitive behaviour phenotype in autism spectrum disorder through a large population-based analysis. J Child Psychol Psychiatry ;2020 (Feb 10)

OBJECTIVE : Restricted and repetitive pattern of behaviours and interests (RRB) are a cardinal feature of autism spectrum disorder (ASD), but there remains uncertainty about how these diverse behaviours vary according to individual characteristics. This study provided the largest exploration to date of the relationship between Repetitive Motor Behaviours, Rigidity/Insistence on Sameness and Circumscribed Interests with other individual characteristics in newly diagnosed individuals with ASD. METHOD : Participants (N = 3,647 ; 17.7% females ; Mage = 6.6 years [SD = 4.7]) were part of the Western Australian (WA) Register for ASD, an independent, prospective collection of demographic and diagnostic data of newly diagnosed cases of ASD in WA. Diagnosticians rated each of the DSM-IV-TR criteria on a 4-point Likert severity scale, and here we focused on the Repetitive Motor Behaviours, Insistence on Sameness and Circumscribed Interests symptoms. RESULTS : The associations between RRB domains, indexed by Kendall’s Tau, were weak, ranging from non-significant for both Circumscribed Interests and Repetitive Motor Behaviours to significant (.20) for Insistence on Sameness and Repetitive Motor Behaviours. Older age at diagnosis was significantly associated with lower Circumscribed Interests and significantly associated with higher Insistence on Sameness and Repetitive Motor Behaviours. Male sex was significantly associated with higher Repetitive Motor Behaviours but not Insistence on Sameness or Circumscribed Interests. CONCLUSIONS : The pattern of associations identified in this study provides suggestive evidence for the distinctiveness of Repetitive Motor Behaviours, Insistence on Sameness and Circumscribed Interests, highlighting the potential utility of RRB domains for stratifying the larger ASD population into smaller, more phenotypically homogeneous subgroups that can help to facilitate efforts to understand diverse ASD aetiology and inform design of future interventions.

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19. Usher LV, DaWalt LS, Hong J, Greenberg JS, Mailick MR. Trajectories of Change in the Behavioral and Health Phenotype of Adolescents and Adults with Fragile X Syndrome and Intellectual Disability : Longitudinal Trends Over a Decade. J Autism Dev Disord ;2020 (Feb 10)

This study examined trajectories of daily living skills, behavior problems, body mass index (BMI), and health conditions spanning nearly a decade in adolescents and adults with fragile X syndrome (N = 134 ; age range at study end = 19-49 years), examining influences of sex and autism spectrum disorder (ASD) symptoms. Hierarchical linear modeling revealed early increases in daily living skills, with decreases at older ages. Behavior problems became less severe over time, with some increases at older ages. Individuals gained weight and had increasing health problems over time. Fewer ASD symptoms were associated with greater daily living skills and fewer behavior problems at study start. This study offers some of the first prospective quantitative analyses of behavioral and health life course trajectories in FXS.

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20. van ’t Hof M, van Berckelaer-Onnes I, Deen M, Neukerk MC, Bannink R, Daniels AM, Hoek HW, Ester WA. Novel Insights into Autism Knowledge and Stigmatizing Attitudes Toward Mental Illness in Dutch Youth and Family Center Physicians. Community Ment Health J ;2020 (Feb 11)

Professionals’ limited knowledge on mental health and their stigmatizing attitudes toward mental illness can delay the diagnosis of autism. We evaluated the knowledge on Autism Spectrum Disorder (ASD) and stigmatizing attitudes in 93 physicians at Dutch Youth and Family Centers (YFC). These physicians screen for psychiatric symptoms in children. We show that their general ASD knowledge scored 7.1 (SD 1.2), but their specific ASD knowledge was only 5.7 (SD 1.7) (weighted means on 1-10 scale, 1 = least knowledge, 10 = most knowledge). Our physicians had positive attitudes toward mental illness (CAMI scores 2.18 (SD 0.33) to 2.22 (SD 0.40) on a 5-point Likert scale) but they had higher levels of stigmatizing attitudes than other Western healthcare professionals. Their levels were considerably lower than in non-Western professionals. We found no relations between ASD knowledge, stigmatizing attitudes and demographic variables. In conclusion, ASD knowledge and stigmatizing attitudes toward mental illness in Dutch YFC physicians require attention.

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21. Walls M, Curtin C, Phillips S, Eliasziw M, Jackel C, Must A, Bandini L, Broder-Fingert S. Developmental-Behavioral Pediatricians’ Diagnosis and Coding of Overweight and Obesity in Children with Autism Spectrum Disorder. J Dev Behav Pediatr ;2020 (Feb 7)

OBJECTIVE : The prevalence of obesity in autism spectrum disorder (ASD) is high, and managing obesity in children with ASD can be challenging. The study’s objective was to examine developmental-behavioral pediatricians’ (DBPs) coding practices for overweight/obesity in children with ASD and patient characteristics associated with coding. METHODS : We analyzed the clinical data on children with ASD with at least 1 visit at one of 3 developmental-behavioral pediatrics network sites between January 2010 and December 2011. Weight status was calculated using body mass index z-scores. For children meeting the criteria for overweight/obesity, we assessed the frequency of weight-related ICD-9 diagnosis codes at DBP visits, used multivariable logistic regression to determine characteristics associated with the presence of these codes, and examined the prevalence of weight-related codes relative to other diagnosis codes. RESULTS : The sample included 4542 children, ages 2 to 19 years. 15.5% of children met the criteria for overweight, 14.7% for obesity, and 6.3% for severe obesity. Of children meeting the criteria for overweight/obesity/severe obesity, 7.5% had a weight-related code documented at their visits. Children with obesity or severe obesity and older children had higher odds of having a weight-related code. Compared with not being on medications, atypical antipsychotics use was significantly associated with increased odds of having a weight-related code. Of 3802 unique ICD-9 diagnosis codes documented at any visit during the study period, only 4% were related to weight. CONCLUSION : Few children meeting the criteria for overweight/obesity had documented weight-related codes. Weight-related coding was more likely for children with obesity, who were older, and those taking atypical antipsychotics.

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22. Zhang Y, Chen Y, Hu T. PANDA : Prioritization of autism-genes using network-based deep-learning approach. Genet Epidemiol ;2020 (Feb 10)

Understanding the genetic background of complex diseases and disorders plays an essential role in the promising precision medicine. The evaluation of candidate genes, however, requires time-consuming and expensive experiments given a large number of possibilities. Thus, computational methods have seen increasing applications in predicting gene-disease associations. We proposed a bioinformatics framework, Prioritization of Autism-genes using Network-based Deep-learning Approach (PANDA). Our approach aims to identify autism-genes across the human genome based on patterns of gene-gene interactions and topological similarity of genes in the interaction network. PANDA trains a graph deep learning classifier using the input of the human molecular interaction network and predicts and ranks the probability of autism association of every node (gene) in the network. PANDA was able to achieve a high classification accuracy of 89%, outperforming three other commonly used machine learning algorithms. Moreover, the gene prioritization ranking list produced by PANDA was evaluated and validated using an independent large-scale exome-sequencing study. The top 10% of PANDA-ranked genes were found significantly enriched for autism association.

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