Autism Research And Treatment[JOURNAL]
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141 papers
Autism Spectrum Disorder Detection by Hybrid Convolutional Recurrent Neural Networks from Structural and Resting State Functional MRI Images.
Koc E, Kalkan H, Bilgen S
Autism Res Treat · 2023 · PMID 38152612 · Full text
This study aims to increase the accuracy of autism spectrum disorder (ASD) diagnosis based on cognitive and behavioral phenotypes through multiple neuroimaging modalities. We apply machine learning (ML) algorithms to cla...
This study aims to increase the accuracy of autism spectrum disorder (ASD) diagnosis based on cognitive and behavioral phenotypes through multiple neuroimaging modalities. We apply machine learning (ML) algorithms to classify ASD patients and healthy control (HC) participants using structural magnetic resonance imaging (s-MRI) together with resting state functional MRI (rs-f-MRI and f-MRI) data from the large multisite data repository ABIDE (autism brain imaging data exchange) and identify important brain connectivity features. The 2D f-MRI images were converted into 3D s-MRI images, and datasets were preprocessed using the Montreal Neurological Institute (MNI) atlas. The data were then denoised to remove any confounding factors. We show, by using three fusion strategies such as early fusion, late fusion, and cross fusion, that, in this implementation, hybrid convolutional recurrent neural networks achieve better performance in comparison to either convolutional neural networks (CNNs) or recurrent neural networks (RNNs). The proposed model classifies subjects as autistic or not according to how functional and anatomical connectivity metrics provide an overall diagnosis based on the autism diagnostic observation schedule (ADOS) standard. Our hybrid network achieved an accuracy of 96% by fusing s-MRI and f-MRI together, which outperforms the methods used in previous studies.
"Don't Promise Something You can't Deliver:" Caregivers' Advice for Improving Services to Adolescents and Young Adults with Autism.
Berg KA, Ishler KJ, Lytle S … +6 more , Kaplan R, Wang F, Olgac T, Miner S, Edguer MN, Biegel DE
Autism Res Treat · 2023 · PMID 36998713 · Full text
Approximately 50,000 youths with autism spectrum disorders (ASD) exit U.S. high schools yearly to enter adult systems of care, many of whom remain dependent on family for day-to-day care and service system navigation. As...
Approximately 50,000 youths with autism spectrum disorders (ASD) exit U.S. high schools yearly to enter adult systems of care, many of whom remain dependent on family for day-to-day care and service system navigation. As part of a larger study, 174 family caregivers for adolescents or young adults with ASD were asked what advice they would give service providers about how to improve services for youth with ASD. Reflexive thematic analysis identified a framework of five directives: (1) provide a roadmap to services; (2) improve service access; (3) fill gaps to address unmet needs; (4) educate themselves, their families, and society about autism; and (5) operate from a relationship-building paradigm with families. Education, health, and social service providers, as well as policymakers, can use these directives to better assist youth with ASD and their families in the transition to adulthood.
An Overview of the Available Intervention Strategies for Postural Balance Control in Individuals with Autism Spectrum Disorder.
Hariri R, Nakhostin-Ansari A, Mohammadi F … +3 more , Memari AH, Oskouie IM, Haghparast A
Autism Res Treat · 2022 · PMID 36452121 · Full text
BACKGROUND: Postural instability is a prevalent issue among individuals with autism spectrum disorder (ASD) that affects the development of their perceptual-motor skills and social functioning. Visual and somatosensory p...
BACKGROUND: Postural instability is a prevalent issue among individuals with autism spectrum disorder (ASD) that affects the development of their perceptual-motor skills and social functioning. Visual and somatosensory processing deficits, hypotonia, basal ganglia dysfunction, and anxiety are some of the concurrent disorders in individuals with ASD. Nevertheless, a definite management protocol for postural instability in ASD has not been introduced yet. Hence, we aim to shed light on the available intervention strategies for postural instability in individuals with ASD. METHODS: Even though several studies have been conducted on the effects of various interventions for balance control in individuals with ASD, no study has compared their efficacy, limitations, and clinical implications. RESULTS: This review discusses diverse proposed interventions contributing to ASD postural instability, including martial arts, water-based interventions, animal-assisted therapies, trampoline, balance training, vestibular therapy, transcranial direct current stimulation, sports, play, and active recreation for kids (SPARK), and square-stepping exercise (SSE). CONCLUSION: Enhancing motor skills, cerebellum function, and sensory input integration were some of the main mechanisms of these interventions to improve balance control in ASD. Some interventions, such as water-based exercises and video games, were enjoyable for children with ASD and could raise their treatment adherence. In most studies, small sample sizes and the lack of a control group represented their major limitations. Therefore, future well-designed randomized controlled trials are required to assess the effects of available interventions on postural control in ASD.
Balance and Vestibular Deficits in Pediatric Patients with Autism Spectrum Disorder: An Underappreciated Clinical Aspect.
Oster LM, Zhou G
Autism Res Treat · 2022 · PMID 36016580 · Full text
Children with autism spectrum disorder (ASD) not only have communication and social difficulties, but also exhibit poor balance and motor control ability, which frequently affect daily activities. Effective balance and m...
Children with autism spectrum disorder (ASD) not only have communication and social difficulties, but also exhibit poor balance and motor control ability, which frequently affect daily activities. Effective balance and motor control rely on the integration of somatosensory, visual, and vestibular inputs. Although reports of balance dysfunction in ASD have been documented, comprehensive studies of balance and vestibular function in children with ASD are scarce. In this study, we retrospectively reviewed 36 pediatric patients diagnosed with ASD who underwent balance/vestibular laboratory testing in our speciality clinic. Results from sensory organization test (SOT) or modified clinical test for sensory integration of balance (mCTSIB) found that out of 15 patients, 80% had abnormal findings. Of the children who successfully completed each vestibular test, abnormal responses were observed in 12 (80%) sensory organization tests, 5 (24%) vestibular evoked myogenic potential (VEMP), 22 (66%) videonystagmography (VNG), and 11 (32%) sinusoidal rotary chair tests. These results indicate that balance and vestibular testing may be of diagnostic value for clinicians and providers as an aid in early detection, intervention, and the development of appropriate management and therapies for this patient population. Increased awareness of this topic is warranted to promote better clinical management of this special group of patients and improve their quality of life.
Severity of Child Autistic Symptoms and Parenting Stress in Mothers of Children with Autism Spectrum Disorder in Japan and USA: Cross-Cultural Differences.
Porter N, Loveland KA, Saroukhani S … +3 more , Posey Y, Morimoto K, Rahbar MH
Autism Res Treat · 2022 · PMID 35864923 · Full text
The purpose of this study was to compare the relationship between parenting stress and autistic symptom severity in the U.S. and Japan. Fifty-two U.S. and 51 Japanese mothers of children aged 2-12 with autism completed m...
The purpose of this study was to compare the relationship between parenting stress and autistic symptom severity in the U.S. and Japan. Fifty-two U.S. and 51 Japanese mothers of children aged 2-12 with autism completed measures of parenting stress and child characteristics, including the parenting stress index (PSI), the social communication questionnaire (SCQ), and social responsiveness scale-2 (SRS-2). There was a nonlinear relationship between the child's autistic symptom severity and parenting stress in both countries. We also found some cultural differences: in the parent domain, the relationships between children's SCQ scores and PSI scores differed significantly between the U.S. and Japan. Our findings suggest that autistic severity symptom scores may reflect cross-cultural differences in parenting beliefs, views toward autism, and response styles for evaluating children's behavior. The findings also suggest that parents need support regardless of the child's autism severity, including those with mild to moderate symptoms. Expanding on this line of research and understanding cultural influences on parenting stress may help service providers and agencies offer more culturally sensitive services, parent-education courses, and intervention programs.
Effectiveness and Adverse Effects of Risperidone in Children with Autism Spectrum Disorder in a Naturalistic Clinical Setting at a University Hospital in Oman.
Al-Huseini S, Al-Barhoumi A, Al-Balushi M … +5 more , Al-Hosni A, Al-Mahrouqi T, Al-Mahrizi B, Jaju S, Mirza H
Autism Res Treat · 2022 · PMID 35127178 · Full text
OBJECTIVE: This study aimed at examining the effectiveness of treating children with autism spectrum disorder (ASD) who present with irritability, aggression, and disruptive behavior at the Sultan Qaboos University Hospi...
OBJECTIVE: This study aimed at examining the effectiveness of treating children with autism spectrum disorder (ASD) who present with irritability, aggression, and disruptive behavior at the Sultan Qaboos University Hospital (SQUH) in Muscat, Oman, with risperidone, and to note any sex-based differences among this cohort. METHOD: This was a retrospective study conducted at the Department of Behavioral Medicine at SQUH over two years from January 2017 to December 2018. This study included all children aged 3 to 18 years attending the Child and Adolescent Mental Health Service (CAMHS) outpatient clinic with a diagnosis of ASD, based on the DSM-5 criteria, and comorbid disruptive behavior, who had been prescribed risperidone. RESULT: This study identified 95 ASD patients (72 males). Male patients' BMI score after 12 months of risperidone treatment showed an increase by 0.62 (1.57 SD; =0.001); however, there was no significant change among female patients. Somnolence was noted in 69.6% of female patients as compared to 34.7% of males (=0.003). Among those with a family history of ASD, 5 out of 17 patients had treatment success (29.4%), whereas 70 out of 78 patients (90.0%) who did not have a similar history had successful treatment. CONCLUSION: In conclusion, low-dose risperidone monotherapy is effective and well tolerated among some children with ASD who present with disruptive behavior in a naturalistic clinical setting. However, we found that some of the side effects, such as weight gain and somnolence, were concerning.
Exploring a Role for Parental Mental Health in Perception and Reports of Pain on Behalf of Children with Autism Spectrum Disorder.
Grosvenor LP, Whitney DG, Volk HE … +1 more , Fallin MD
Autism Res Treat · 2021 · PMID 34820140 · Full text
Children with autism spectrum disorder (ASD) have a higher prevalence of pain compared to those without ASD. Pain is a leading cause of morbidity and disability worldwide and may contribute to adverse health outcomes in...
Children with autism spectrum disorder (ASD) have a higher prevalence of pain compared to those without ASD. Pain is a leading cause of morbidity and disability worldwide and may contribute to adverse health outcomes in people with ASD, thus warranting further research on this special population. The present study used data from 1,423 children with ASD and 46,023 children without ASD and their mothers from the combined 2016-2017 National Survey of Children's Health. Mothers reported child pain and ASD status and their own mental health status. Mothers reporting a status of "Fair or Poor" were considered as having maternal mental health conditions (MMHCs) for the purposes of this study. Children with and without ASD who had mothers with MMHCs had higher odds of pain compared to children with mothers without MMHCs. These increased odds did not attenuate as a result of controlling for co-occurring neurological conditions, which have been associated with increased pain in children with ASD. Thus, parent mental health may alter perception and/or reports of pain on behalf of children with and without ASD. Future research should include more detailed assessments of parent mental health and clinical assessments of children in order to explore the role of parent mental health in the experiences of pain and other symptoms present in children with ASD.
Lived Experiences of Mothers Raising Children with Autism in Chitwan District, Nepal.
Acharya S, Sharma K
Autism Res Treat · 2021 · PMID 34782850 · Full text
BACKGROUND: Autism is a neurodevelopmental problem that is increasing at an alarming rate worldwide. Rearing and caring for children with autism depends upon the perception of mothers and various factors associated with...
BACKGROUND: Autism is a neurodevelopmental problem that is increasing at an alarming rate worldwide. Rearing and caring for children with autism depends upon the perception of mothers and various factors associated with it. There is a gap in the literature regarding the detailed accounts of mother's experiences regarding autism in Nepal. Hence, this study was undertaken to explore lived experiences of mothers raising children with autism. MATERIALS AND METHODS: Qualitative phenomenological study design was used and nine mothers with autistic children were selected using purposive sampling technique. Data were collected using in-depth interview guidelines and analyzed using Colaizzi's steps. RESULTS: Findings of the study revealed that mothers raising children with autism encountered numerous problems in their life. They felt physically exhausted due to the continuous supervision of their child. Emotional problems such as denial, upset/sadness, and worry were also common among them. In addition, all mothers faced social problems such as social blame, social isolation, and ignorance from their relatives and society due to the atypical behavior of their child. Furthermore, the economic problem was also acute among mothers due to job loss, costly medical treatment, and therapies. So, to deal with the stressors they faced, mothers adopted various coping strategies such as respite care, problem-focused strategies, religious coping, and positive coping in their everyday life. CONCLUSION: In conclusion, to the authors' knowledge, this is the first study documenting the experiences of Nepalese mothers having autistic children. Hence, health care professionals need to pay more attention to address the problems of mothers while treating their autistic children. The Government of Nepal also needs to formulate a policy for the rehabilitation of autistic children in society.
The Effectiveness of RAADS-R as a Screening Tool for Adult ASD Populations.
Jones SL, Johnson M, Alty B … +1 more , Adamou M
Autism Res Treat · 2021 · PMID 34552768 · Full text
Adult referrals to specialist autism spectrum disorder diagnostic services have increased in recent years, placing strain on existing services. It was proposed that the Ritvo Autism Asperger's Diagnostic Scale could be u...
Adult referrals to specialist autism spectrum disorder diagnostic services have increased in recent years, placing strain on existing services. It was proposed that the Ritvo Autism Asperger's Diagnostic Scale could be used as a screening tool, in order to identify and prioritise patients most likely to receive an ASD diagnosis. This study evaluates the validity of the RAADS-R as a screening tool for ASD in an adult population. Retrospective case note analysis was used to evaluate the efficacy of the RAADS-R as a screening tool to predict ASD diagnostic outcomes in 50 service users of a NHS specialist autism service. Results indicate no association between RAADS-R scores and clinical diagnostic outcome, suggesting the RAADS-R is not an effective screening tool for identifying service users most likely to receive an ASD diagnosis. In conclusion, used as a self-report measure pre-full diagnostic assessment, the RAADS-R lacks predictive validity and is not a suitable screening tool for adults awaiting autism assessments. Future research should aim to identify reliable screening tools for this purpose.
SHANK3 Genotype Mediates Speech and Language Phenotypes in a Nonclinical Population.
Manning C, Hurd PL, Read S … +1 more , Crespi B
Autism Res Treat · 2021 · PMID 34188957 · Full text
Mutations affecting the synaptic-scaffold gene SHANK3 represent the most common genetic causes of autism with intellectual disability, accounting for about 1-2% of cases. Rare variants of this gene have also been associa...
Mutations affecting the synaptic-scaffold gene SHANK3 represent the most common genetic causes of autism with intellectual disability, accounting for about 1-2% of cases. Rare variants of this gene have also been associated with schizophrenia, and its deletion results in the autistic condition known as Phelan-McDermid syndrome. Despite the importance of SHANK3 as a paradigmatic gene mediating neurodevelopmental disorders, its psychological effects in nonclinical populations have yet to be studied. We genotyped the nonsynonymous, functional SHANK3 SNP rs9616915 in a large population of typical individuals scored for autism spectrum traits (the Autism Quotient, AQ) and schizotypy spectrum traits (the Schizotypal Personality Questionnaire, SPQ-BR). Males, but not females, showed significant genotypic effects for the SPQ-BR subscale associated with speech and language: Odd Speech. These findings, in conjunction with animal model studies showing vocalization and auditory effects of SHANK3 mutations, and studies indicating severe language alterations and speech-associated white matter tract abnormalities in Phelan-McDermid syndrome, suggest that SHANK3 differentially affects the development and expression of human language and speech. Imaging genetic and speech-language studies of typical individuals carrying different genotypes of rs9616915 should provide novel insights into the neurological and psychological bases of speech and language alterations among individuals with SHANK3 mutations and Phelan-McDermid syndrome.
A Need for Consistency in Behavioral Phenotyping for ASD: Analysis of the Valproic Acid Model.
Larner O, Roberts J, Twiss J … +1 more , Freeman L
Autism Res Treat · 2021 · PMID 33828864 · Full text
Autism spectrum disorder (ASD) is a highly prevalent and impairing neurodevelopmental disorder that affects 1 : 54 persons. Over the last several decades, the reported incidence of ASD in the US has increased potentially...
Autism spectrum disorder (ASD) is a highly prevalent and impairing neurodevelopmental disorder that affects 1 : 54 persons. Over the last several decades, the reported incidence of ASD in the US has increased potentially due to increased awareness and improved diagnostic measurement. Although ASD prevalence is increasing, the etiology of ASD remains relatively unknown. To better understand the neurological basis of ASD, rodent models of ASD have been developed for research. Currently, there is not a standardized set of behavioral tests to quantify ASD-like behavior in rodents. The goal of this review is to present an overview of the methodologies used to analyze ASD-like behaviors in rodents, focusing on the valproic acid (VPA) model, and illustrate inconsistencies between different approaches. Despite that the VPA rodent model for ASD is widely used and extensively characterized, behaviors vary substantially between different researchers. Moving forward, consistency in behavioral method analytics would benefit progress in evaluating interventions for all models of ASD and help to uncover unique qualities underlying mechanisms causing ASD signs and symptoms.
Autism Spectrum Disorder: Investigating Predictive Adaptive Behavior Skill Deficits in Young Children.
Feige E, Mattingly R, Pitts T … +1 more , Smith AF
Autism Res Treat · 2021 · PMID 33604088 · Full text
Autism spectrum disorder (ASD) is a lifelong neurodevelopmental disorder that consists of difficulties with social communication and language, as well as the presence of restricted and repetitive behaviors. These deficit...
Autism spectrum disorder (ASD) is a lifelong neurodevelopmental disorder that consists of difficulties with social communication and language, as well as the presence of restricted and repetitive behaviors. These deficits tend to present in early childhood and usually lead to impairments in functioning across various settings. Moreover, these deficits have been shown to negatively impact adaptive behavior and functioning. Thus, early diagnosis and intervention is vital for future success within this population. The purpose of this study was to further examine the subscales that comprise the adaptive behavior section of the Bayley®-III to determine which of the ten subscales are predictive of ASD in young children (i.e., ≤ three years of age). A retrospective file review of 273 children participating in Kentucky's early intervention program, First Steps, was completed. The children ranged in age from 18 to 35 months. A binary logistic regression was used to assess the subscales that comprise the adaptive behavior of the section of the Bayley®-III to determine which of the ten subscales are predictive of ASD in young children (i.e., ≤ three years of age). The results indicated that individual lower raw scores in communication, community use, functional preacademics, home living, health and safety, leisure, self-care, self-direction, and social subscales were predictive of an autism diagnosis.
Oxidative Stress, Folate Receptor Autoimmunity, and CSF Findings in Severe Infantile Autism.
Ramaekers VT, Sequeira JM, Thöny B … +1 more , Quadros EV
Autism Res Treat · 2020 · PMID 33294225 · Full text
BACKGROUND: Biomarkers such as oxidative stress, folate receptor alpha (FR) autoimmunity, and abnormal brain serotonin turnover are common in autism. METHODS: Oxidative stress biomarkers with pro- and antioxidants were m...
BACKGROUND: Biomarkers such as oxidative stress, folate receptor alpha (FR) autoimmunity, and abnormal brain serotonin turnover are common in autism. METHODS: Oxidative stress biomarkers with pro- and antioxidants were measured in the severe form of infantile autism ( = 38) and controls ( = 24). Children and parents had repeated testing for serum FR autoantibodies, spinal fluid dopamine and serotonin metabolites, pterins, and N-methyltetrahydrofolate (MTHF). Statistical analysis assessed correlations between variables. Genetic analysis included the SLC6A4 and SLC29A4 genes encoding synaptic serotonin reuptake proteins. RESULTS: Compared to controls, the autism group showed a significant increase in oxidative DNA damage in lymphocytes, plasma ceruloplasmin and copper levels with a high copper/zinc ratio, thiol proteins, and superoxide dismutase (SOD) activity. Vitamin C levels were significantly diminished. In most autistic patients, the vitamin A (64%) and D (70%) levels were low. Serum FR autoantibodies fluctuating over 5-7 week periods presented in 68% of all autistic children, 41% of parents vs. 3.3% of control children and their parents. CSF showed lowered serotonin 5-hydroxyindole acetic acid (5HIAA) metabolites in 13 (34%), a low 5HIAA to HVA (dopamine metabolite) ratio in 5 (13%), low 5HIAA and MTHF in 2 (5%), and low MTHF in 8 patients (21%). A known SLC6A4 mutation was identified only in 1 autistic child with low CSF 5HIAA and a novel SLC29A4 mutation was identified in identical twins. Low CSF MTHF levels among only 26% of subjects can be explained by the fluctuating FR antibody titers. Two or more aberrant pro-oxidant and/or antioxidant factors predisposed to low CSF serotonin metabolites. Three autistic children having low CSF 5HIAA and elevated oxidative stress received antioxidative supplements followed by CSF 5HIAA normalisation. CONCLUSION: In autism, we found diverse combinations for FR autoimmunity and/or oxidative stress, both amenable to treatment. Parental and postnatal FR autoantibodies tend to block folate passage to the brain affecting folate-dependent pathways restored by folinic acid treatment, while an abnormal redox status tends to induce reduced serotonin turnover, corrected by antioxidant therapy. . The case-controlled study was approved in 2008 by the IRB at Liège University (Belgian Number: B70720083916). . Children with severe infantile autism frequently have serum folate receptor autoantibodies that block the transport of the essential vitamin folate across the blood-brain barrier to the brain. Parents are often asymptomatic carriers of these serum folate receptor autoantibodies, which in mothers can block folate passage across the placenta to their unborn child. This folate deficiency during the child's intrauterine development may predispose to neural tube defects and autism. Oxidative stress represents a condition with the presence of elevated toxic oxygen derivatives attributed to an imbalance between the formation and protection against these toxic reactive oxygen derivatives. Oxidative stress was found to be present in autistic children where these reactive oxygen derivatives can cause damage to DNA, which changes DNA function and regulation of gene expression. In addition, excessive amounts of these toxic oxygen derivatives are likely to damage the enzyme producing the neuromessenger serotonin in the brain, diminished in about 1/3 of the autistic children. Testing children with autism for oxidative stress and its origin, as well as testing for serum folate receptor autoantibodies, could open new approaches towards more effective treatments.
Is Earlier Better? The Relationship between Age When Starting Early Intervention and Outcomes for Children with Autism Spectrum Disorder: A Selective Review.
Towle PO, Patrick PA, Ridgard T … +2 more , Pham S, Marrus J
Autism Res Treat · 2020 · PMID 32832154 · Full text
Although the conventional wisdom is that "earlier is better" when it comes to intervention for children with ASD, it is not clear what evidence exists to support this notion. This review examined a group of studies that...
Although the conventional wisdom is that "earlier is better" when it comes to intervention for children with ASD, it is not clear what evidence exists to support this notion. This review examined a group of studies that addressed outcomes for young children with ASD who started early intervention at a range of ages. The review was selective by including only papers that examined the age of initiation of treatment as well as baseline cognitive, language, or adaptive level and, in addition, employed a method to control for the covariance between early ability level and age of beginning intervention. Fourteen studies were identified and then compared on methods and outcomes. The support for "earlier is better" was mixed, but it was clear that complex relationships among predictor variables need to be explored in order to understand the role of age of starting early intervention for later outcomes.
Neural Mechanisms of Vicarious Reward Processing in Adults with Autism Spectrum Disorder.
Greene RK, Damiano-Goodwin CR, Walsh E … +2 more , Bizzell J, Dichter GS
Autism Res Treat · 2020 · PMID 32257439 · Full text
Previous studies examining the neural substrates of reward processing in ASD have explored responses to rewards for oneself but not rewards earned for others (i.e., vicarious reward). This omission is notable given that...
Previous studies examining the neural substrates of reward processing in ASD have explored responses to rewards for oneself but not rewards earned for others (i.e., vicarious reward). This omission is notable given that vicarious reward processing is a critical component of creating and maintaining social relationships. The current study examined the neural mechanisms of vicarious reward processing in 15 adults with ASD and 15 age- and gender-matched typically developing controls. Individuals with ASD demonstrated attenuated activation of reward-related regions during vicarious reward processing. Altered connectivity was also observed in individuals with ASD during reward receipt. These findings of altered neural sensitivity to vicarious reward processing may represent a mechanism that hinders the development of social abilities in ASD.
AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism.
Crespi B, Read S, Ly A … +1 more , Hurd P
Autism Res Treat · 2019 · PMID 31687209 · Full text
The extreme male brain theory of autism posits that its male bias is mediated by exaggeration of male-biased sex differences in the expression of autism-associated traits found in typical populations. The theory is suppo...
The extreme male brain theory of autism posits that its male bias is mediated by exaggeration of male-biased sex differences in the expression of autism-associated traits found in typical populations. The theory is supported by extensive phenotypic evidence, but no genes have yet been described with properties that fit its predictions. The autophagy-associated gene AMBRA1 represents one of the top genome-wide "hits" in recent GWAS studies of schizophrenia, shows sex-differential expression, and has been linked with autism risk and traits in humans and mice, especially or exclusively among females. We genotyped the AMBRA1 autism-risk SNP in a population of typical humans who were scored for the dimensional expression of autistic and schizotypal traits. Females, but not males, homozygous for the GG genotype showed a significant increase in score for the single trait, the Autism Quotient-Imagination subscale, that exhibits a strong, significant male bias in typical populations. As such, females with this genotype resembled males for this highly sexually dimorphic, autism-associated phenotype. These findings support the extreme male brain hypothesis and indicate that sex-specific genetic effects can mediate aspects of risk for autism.
Neural Mechanisms of Reward Prediction Error in Autism Spectrum Disorder.
Mosner MG, McLaurin RE, Kinard JL … +11 more , Hakimi S, Parelman J, Shah JS, Bizzell J, Greene RK, Cernasov PM, Walsh E, Addicott MA, Eisenlohr-Moul T, Carter RM, Dichter GS
Autism Res Treat · 2019 · PMID 31354993 · Full text
Few studies have explored neural mechanisms of reward learning in ASD despite evidence of behavioral impairments of predictive abilities in ASD. To investigate the neural correlates of reward prediction errors in ASD, 16...
Few studies have explored neural mechanisms of reward learning in ASD despite evidence of behavioral impairments of predictive abilities in ASD. To investigate the neural correlates of reward prediction errors in ASD, 16 adults with ASD and 14 typically developing controls performed a prediction error task during fMRI scanning. Results revealed greater activation in the ASD group in the left paracingulate gyrus during signed prediction errors and the left insula and right frontal pole during thresholded unsigned prediction errors. Findings support atypical neural processing of reward prediction errors in ASD in frontostriatal regions critical for prediction coding and reward learning. Results provide a neural basis for impairments in reward learning that may contribute to traits common in ASD (e.g., intolerance of unpredictability).
Improving Outcome in Infantile Autism with Folate Receptor Autoimmunity and Nutritional Derangements: A Self-Controlled Trial.
Ramaekers VT, Sequeira JM, DiDuca M … +6 more , Vrancken G, Thomas A, Philippe C, Peters M, Jadot A, Quadros EV
Autism Res Treat · 2019 · PMID 31316831 · Full text
BACKGROUND: In contrast to multiple rare monogenetic abnormalities, a common biomarker among children with infantile autism and their parents is the discovery of serum autoantibodies directed to the folate receptor alpha...
BACKGROUND: In contrast to multiple rare monogenetic abnormalities, a common biomarker among children with infantile autism and their parents is the discovery of serum autoantibodies directed to the folate receptor alpha (FR) localized at blood-brain and placental barriers, impairing physiologic folate transfer to the brain and fetus. Since outcome after behavioral intervention remains poor, a trial was designed to treat folate receptor alpha (FR) autoimmunity combined with correction of deficient nutrients due to abnormal feeding habits. METHODS: All participants with nonsyndromic infantile autism underwent a routine protocol measuring CBC, iron, vitamins, coenzyme Q10, metals, and trace elements. Serum FR autoantibodies were assessed in patients, their parents, and healthy controls. A self-controlled therapeutic trial treated nutritional derangements with addition of high-dose folinic acid if FR autoantibodies tested positive. The Childhood Autism Rating Scale (CARS) monitored at baseline and following 2 years of treatment was compared to the CARS of untreated autistic children serving as a reference. RESULTS: In this self-controlled trial (82 children; mean age ± SD: 4.4 ± 2.3 years; male:female ratio: 4.8:1), FR autoantibodies were found in 75.6 % of the children, 34.1 % of mothers, and 29.4 % of fathers versus 3.3 % in healthy controls. Compared to untreated patients with autism (n=84) whose CARS score remained unchanged, a 2-year treatment decreased the initial CARS score from severe (mean ± SD: 41.34 ± 6.47) to moderate or mild autism (mean ± SD: 34.35 ± 6.25; paired t-test p<0.0001), achieving complete recovery in 17/82 children (20.7 %). Prognosis became less favorable with the finding of higher FR autoantibody titers, positive maternal FR autoantibodies, or FR antibodies in both parents. CONCLUSIONS: Correction of nutritional deficiencies combined with high-dose folinic acid improved outcome for autism, although the trend of a poor prognosis due to maternal FR antibodies or FR antibodies in both parents may warrant folinic acid intervention before conception and during pregnancy.
Risk for ASD in Preterm Infants: A Three-Year Follow-Up Study.
Harel-Gadassi A, Friedlander E, Yaari M … +4 more , Bar-Oz B, Eventov-Friedman S, Mankuta D, Yirmiya N
Autism Res Treat · 2018 · PMID 30534432 · Full text
BACKGROUND: The aim of this study was to examine the long-term risk for autism spectrum disorders (ASD) in individuals who are born preterm and full-term using both observational instruments and parental reports. Neonata...
BACKGROUND: The aim of this study was to examine the long-term risk for autism spectrum disorders (ASD) in individuals who are born preterm and full-term using both observational instruments and parental reports. Neonatal risk factors and developmental characteristics associated with ASD risk were also examined. METHOD: Participants included 110 preterm children (born at a gestational age of ≤ 34 weeks) and 39 full-term children assessed at ages 18, 24, and 36 months. The Autism Diagnostic Observation Schedule, the Modified Checklist for Autism in Toddlers, the Autism Diagnostic Interview-Revised, the Social Communication Questionnaire, and the Mullen Scales of Early Learning were administered. RESULTS AND CONCLUSIONS: The long-term risk for ASD was higher when parental reports were employed compared to observational instruments. At 18 and 24 months, a higher long-term risk for ASD was found for preterm children compared to full-term children. At 36 months, only one preterm child and one full-term child met the cutoff for ASD based on the ADOS, yet clinical judgment and parental reports supported an ASD diagnosis for the preterm child only. Earlier gestational age and lower general developmental abilities were associated with elevated ASD risk among preterm children.
Neuromagnetic Beta-Band Oscillations during Motor Imitation in Youth with Autism.
Buard I, Kronberg E, Steinmetz S … +2 more , Hepburn S, Rojas DC
Autism Res Treat · 2018 · PMID 30147953 · Full text
Children with ASD often exhibit early difficulties with action imitation, possibly due to low-level sensory or motor impairments. Impaired cortical rhythms have been demonstrated in adults with ASD during motor imitation...
Children with ASD often exhibit early difficulties with action imitation, possibly due to low-level sensory or motor impairments. Impaired cortical rhythms have been demonstrated in adults with ASD during motor imitation. While those oscillations reflect an age-dependent process, they have not been fully investigated in youth with ASD. We collected magnetoencephalography data to examine patterns of oscillatory activity in the mu (8-13 Hz) and beta frequency (15-30 Hz) range in 14 adolescents with and 14 adolescents without ASD during a fine motor imitation task. Typically developing adolescents exhibited adult-like patterns of motor signals, e.g., event-related beta and mu desynchronization (ERD) before and during the movement and a postmovement beta rebound (PMBR) after the movement. In contrast, those with ASD exhibited stronger beta and mu-ERD and reduced PMBR. Behavioral performance was similar between groups despite differences in motor cortical oscillations. Finally, we observed age-related increases in PBMR and beta-ERD in the typically developing children, but this correlation was not present in the autism group. These results suggest reduced inhibitory drive in cortical rhythms in youth with autism during intact motor imitation. Furthermore, impairments in motor brain signals in autism may not be due to delayed brain development. In the context of the excitation-inhibition imbalance perspectives of autism, we offer new insights into altered organization of neurophysiological networks.
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