Autism Research and Treatment
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Exploring a Role for Parental Mental Health in Perception and Reports of Pain on Behalf of Children with Autism Spectrum Disorder

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Autism Research and Treatment publishes original research articles and review articles related to all aspects of autism.

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Research Article

Lived Experiences of Mothers Raising Children with Autism in Chitwan District, Nepal

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.

Research Article

The Effectiveness of RAADS-R as a Screening Tool for Adult ASD Populations

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.

Research Article

SHANK3 Genotype Mediates Speech and Language Phenotypes in a Nonclinical Population

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.

Review Article

A Need for Consistency in Behavioral Phenotyping for ASD: Analysis of the Valproic Acid Model

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 in utero 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.

Research Article

Autism Spectrum Disorder: Investigating Predictive Adaptive Behavior Skill Deficits in Young Children

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.

Research Article

Oxidative Stress, Folate Receptor Autoimmunity, and CSF Findings in Severe Infantile Autism

Background. Biomarkers such as oxidative stress, folate receptor alpha (FRα) 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 (n = 38) and controls (n = 24). Children and parents had repeated testing for serum FR autoantibodies, spinal fluid dopamine and serotonin metabolites, pterins, and N5-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. Trial Registration. The case-controlled study was approved in 2008 by the IRB at Liège University (Belgian Number: B70720083916). Lay Summary. 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.

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