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Journal of Autism and Developmental... Dec 2023We investigated parent reports of use of special education and support services, use of evidence-based practices (EBPs), use of past and current complementary and...
We investigated parent reports of use of special education and support services, use of evidence-based practices (EBPs), use of past and current complementary and alternative medicine (CAM) treatments, non-use of CAM treatments, willingness, and unwillingness to use CAM treatments, reasons for use and non-use of CAM treatments, and perceptions of EBPs and CAM treatments in their children's functioning. We collected data from a total of 166 parents of children with autism spectrum disorder (ASD) through a web-based survey. 94% of the parents reported lifetime use of at least one CAM treatment. Parents weighed on a wide variety of factors in decision-making. CAM treatments use was positively associated with parental educational level, length of time since ASD diagnosis, and child's ASD severity.
Topics: Child; Humans; Autism Spectrum Disorder; Complementary Therapies; Surveys and Questionnaires; Educational Status
PubMed: 36222992
DOI: 10.1007/s10803-022-05745-2 -
EBioMedicine Sep 2023Unravelling the relationships between candidate genes and autism spectrum disorder (ASD) phenotypes remains an outstanding challenge. Endophenotypes, defined as...
BACKGROUND
Unravelling the relationships between candidate genes and autism spectrum disorder (ASD) phenotypes remains an outstanding challenge. Endophenotypes, defined as inheritable, measurable quantitative traits, might provide intermediary links between genetic risk factors and multifaceted ASD phenotypes. In this study, we sought to determine whether plasma metabolite levels could serve as endophenotypes in individuals with ASD and their family members.
METHODS
We employed an untargeted, high-resolution metabolomics platform to analyse 14,342 features across 1099 plasma samples. These samples were collected from probands and their family members participating in the Autism Genetic Resource Exchange (AGRE) (N = 658), compared with neurotypical individuals enrolled in the PrecisionLink Health Discovery (PLHD) program at Boston Children's Hospital (N = 441). We conducted a metabolite quantitative trait loci (mQTL) analysis using whole-genome genotyping data from each cohort in AGRE and PLHD, aiming to prioritize significant mQTL and metabolite pairs that were exclusively observed in AGRE.
FINDINGS
Within the AGRE group, we identified 54 significant associations between genotypes and metabolite levels (P < 5.27 × 10), 44 of which were not observed in the PLHD group. Plasma glutamine levels were found to be associated with variants in the NLGN1 gene, a gene that encodes post-synaptic cell-adhesion molecules in excitatory neurons. This association was not detected in the PLHD group. Notably, a significant negative correlation between plasma glutamine and glutamate levels was observed in the AGRE group, but not in the PLHD group. Furthermore, plasma glutamine levels showed a negative correlation with the severity of restrictive and repetitive behaviours (RRB) in ASD, although no direct association was observed between RRB severity and the NLGN1 genotype.
INTERPRETATION
Our findings suggest that plasma glutamine levels could potentially serve as an endophenotype, thus establishing a link between the genetic risk associated with NLGN1 and the severity of RRB in ASD. This identified association could facilitate the development of novel therapeutic targets, assist in selecting specific cohorts for clinical trials, and provide insights into target symptoms for future ASD treatment strategies.
FUNDING
This work was supported by the National Institute of Health (grant numbers: R01MH107205, U01TR002623, R24OD024622, OT2OD032720, and R01NS129188) and the PrecisionLink Biobank for Health Discovery at Boston Children's Hospital.
Topics: Child; Humans; Autism Spectrum Disorder; Endophenotypes; Genotype; Glutamine; Polymorphism, Single Nucleotide
PubMed: 37544204
DOI: 10.1016/j.ebiom.2023.104746 -
Sleep Medicine Sep 2023Sleep problems are a common comorbidity in children and adolescents with autism spectrum disorder (ASD). The aim of this study is to determine how sleep problems affect...
Sleep problems are a common comorbidity in children and adolescents with autism spectrum disorder (ASD). The aim of this study is to determine how sleep problems affect not only the child with ASD, but parents also. Parents of 409 children and adolescents with ASD completed the Children's Sleep Habits Questionnaire, Pittsburgh Sleep Quality Index, Parenting Stress Index-Short Form, World Health Organization Quality of Life Abbreviated Version (WHOQOL-BREF), Hospital Anxiety and Depression Scale, and the Multidimensional Scale of Perceived Social Support. The majority (86.6%) of parents presented with poor sleep. The majority (95.3%; n = 387) of children presented with sleep problems, while 4.7% (n = 22) did not have sleep problems. A cross-sectional within-subjects research design was utilised, with the following analyses conducted: Pearson correlations, chi-square tests, t-tests, and MANOVAs. Relationships were found between child sleep problems and parent sleep problems, specifically child parasomnias, sleep duration, night wakings, and sleep onset delay. Parents of children with sleep problems experienced more parenting stress, specifically on the Difficult Child and Parent-Child Dysfunctional Interaction subscales of the Parenting Stress Index-Short Form. Parents of children and adolescents with sleep problems had significantly higher levels of anxiety and depression than parents of children and adolescents who did not have sleep problems. A relationship between sleep problems and lower quality of life was found. Parents of children with sleep problems received significantly lower scores on the WHOQOL-BREF domains of Physical Health, Psychological and Environment than parents of children without sleep problems. There was no significant difference found between parents of children with or without sleep problems on perceived social support. The current study demonstrated how child sleep affects parental well-being. While sleep problems are one comorbid condition in ASD, future research is needed to determine the impact of other comorbidities in parents of children and adolescents with ASD.
Topics: Adolescent; Humans; Autism Spectrum Disorder; Quality of Life; Mental Health; Cross-Sectional Studies; Sleep Wake Disorders; Sleep Initiation and Maintenance Disorders; Parents; Surveys and Questionnaires
PubMed: 37379630
DOI: 10.1016/j.sleep.2023.05.009 -
Psychiatry Research Dec 2023Autism spectrum disorders (ASD) are a collection of neurodevelopmental disabilities, defined by the presence of social, behavioral and communication deficits, that are...
Autism spectrum disorders (ASD) are a collection of neurodevelopmental disabilities, defined by the presence of social, behavioral and communication deficits, that are typically recognized during the first three years of life. Autism has emerged as a significant public health concern, yet there are no answers to its increasing rates. Recent data from the Autism and Developmental Disability Monitoring (ADDM) Network reported that 1 in every 36 (2.8 %) 8-year-old children were found to have autism in 2020. The current research attempts to identify the major challenges around autism care across the US such as: Inconsistent diagnosis and referral leading to delayed start of service, unequal availability of trained licensed Applied Behavioral Analysis (ABA) therapist, Inconsistent implementation of ABA interventions at various settings, Lack of support, education services and vocational opportunities for children transitioning into adulthood. This article also proposes and discusses possible strategies for mitigating those challenges.
Topics: Child; Humans; Autism Spectrum Disorder; Prevalence; Autistic Disorder; Communication; Behavior Rating Scale
PubMed: 37984282
DOI: 10.1016/j.psychres.2023.115595 -
Archives of Disease in Childhood Aug 2023There may be some similarities in the presentation of children who have autism spectrum disorder (ASD) and those exposed to maltreatment affecting assessment and... (Review)
Review
There may be some similarities in the presentation of children who have autism spectrum disorder (ASD) and those exposed to maltreatment affecting assessment and diagnosis. Overlapping characteristics include difficulties understanding and maintaining relationships, sensitivity to routine and hyper-reactivity to sensory inputs. Children who have been maltreated are at increased risk of various developmental vulnerabilities with both environmental and genetic factors being relevant. The existing epidemiological evidence has found that looked-after children are more likely to screen positively for neurodevelopmental disorders and there are smaller scale studies in adoptive children finding higher rates of ASD than would be expected in the general population. Other research suggests a predominantly genetic basis for this increased risk in keeping with what is generally understood about the aetiology of autism. Children exposed to profound deprivation in Romanian orphanages were found to be at higher risk of a pattern of traits termed 'quasi autistic' which tended to reduce following adoption, but these findings have not been replicated in children experiencing maltreatment in birth families. Reactive attachment disorder (RAD) has some overlapping criteria with ASD, but its prevalence is unknown and children with RAD should be more socially reciprocal and not have the same repetitive and restricted behaviours and interests. We recommend experienced multidisciplinary assessment that considers both the possibility of maltreatment in children with ASD and neurodevelopmental vulnerabilities in children who have been maltreated and advise on assessment and management strategies.
Topics: Humans; Child; Autism Spectrum Disorder; Prevalence; Ethnicity
PubMed: 36385007
DOI: 10.1136/archdischild-2022-323986 -
Journal of Autism and Developmental... Sep 2023This study evaluated the association of autistic traits (RAADS-14) with academic and social outcomes among college students using data from an online survey...
This study evaluated the association of autistic traits (RAADS-14) with academic and social outcomes among college students using data from an online survey (N = 2,736). In the academic domain, the total trait score and all subscale scores (mentalizing deficits, social anxiety, sensory reactivity) were associated with course failure and academic difficulties independent of an autism diagnosis; the total score and mentalizing deficits also predicted lower grade point average (GPA). In the social domain, the total trait score and subscale scores were associated with lower odds of having a confidant, lower friendship quality, and higher odds of social exclusion. Subgroup analyses revealed that autistic traits had more consistently negative associations with social outcomes for students without an autism diagnosis than for students with a diagnosis. Associations were also more often significant for women than men. These results support the development of programs and services for students with autistic traits regardless of diagnostic status.
Topics: Autism Spectrum Disorder; Universities; Adaptation, Psychological; Humans; Male; Female; Sex Characteristics; Sex Factors; Indiana; Adolescent; Young Adult; Surveys and Questionnaires; Mentalization; Anxiety; Social Isolation; Friends; Missed Diagnosis
PubMed: 35796912
DOI: 10.1007/s10803-022-05632-w -
BMC Pediatrics Dec 2023Children with Autism spectrum disorder (ASD) was frequently experienced dental anxiety and uncooperative behaviors during dental treatment. Oral health care was...
BACKGROUND
Children with Autism spectrum disorder (ASD) was frequently experienced dental anxiety and uncooperative behaviors during dental treatment. Oral health care was necessary because of the poor oral hygiene and prevalent dental diseases in this population.
AIM
In this systematic review, we evaluated the effectiveness and feasibility for pediatric dentist to manage the dental anxiety in children with ASD.
DESIGN
PubMed, Embase, and Cochrane Library were systematically performed on the literature search. The date of eligible publications was from inception to January 2023. After that, the quality of eligible studies was assessed by the Newcastle Ottawa Scale (NOS). Review findings were summarized using the PRISMA Statement for reporting.
RESULTS
A total of six studies were systematically evaluated according to the inclusion and exclusion criteria. Five studies were conducted to evaluate ASD Children's anxiety and uncooperative performance in the progressive oral examination, oral disease prophylaxis and fluoride application. The other one study evaluated the success rate of treatment in decayed permanent tooth treatment. In the included studies, four studies indicated that it was extremely necessary to reduce dental anxiety of ASD children to increase the cooperation in sensory-adapted dental environment (SADE).
CONCLUSION
It is not always effective and feasible for pediatric dentist to manage the dental anxiety in children with autism during routine oral examination. Meanwhile, it is necessary for ASD children to conduct preoperative psychological assessment, to investigate parents' expectations and cooperation, and to determine whether to start corresponding dental treatment.
Topics: Humans; Child; Autism Spectrum Disorder; Dental Anxiety; Oral Health; Delivery of Health Care; Autistic Disorder
PubMed: 38049774
DOI: 10.1186/s12887-023-04439-7 -
Autism Research : Official Journal of... Sep 2023Autism spectrum disorder with regression (ASD-R) is characterized by the loss of previously acquired skills during the initial year of life. This study aimed to...
Autism spectrum disorder with regression (ASD-R) is characterized by the loss of previously acquired skills during the initial year of life. This study aimed to investigate the clinical characteristics, patterns of regression, and potential risk factors associated with ASD-R in the Chinese Han population. A case-control study was conducted between September 2020 and March 2022. A total of 186 children were enrolled, including 58 children with ASD-R, 70 with ASD without regression (ASD-NR), and 58 typically developing children. Demographic information, clinical characteristics, and potential risk factors related to ASD-R were assessed using a combination of questionnaires, interviews, and physician assessments. The results revealed that children with ASD-R exhibited more severe impairments in social communication and stereotyped behaviors compared with those with ASD-NR. Language regression, constituting 40% of cases within the ASD-R group, was found to be the most common type of regression. Furthermore, our analysis revealed that fever (OR = 4.01, 95% CI: 1.26-12.76) and diarrhea (OR = 6.32, 95% CI: 1.38-29.03) were identified as significant risk factors for ASD-R. These findings contribute to our understanding of the heterogeneity of ASD and highlight the importance of considering immune responses and gastrointestinal factors in the etiology of ASD-R.
Topics: Child; Humans; Autism Spectrum Disorder; Case-Control Studies; Communication; China; Risk Factors
PubMed: 37578311
DOI: 10.1002/aur.3008 -
Psychopathology 2024Since the first description by Leo Kanner, individuals with autism spectrum disorder (ASD) have been attributed a reduced empathy. However, it has not yet been clarified... (Review)
Review
Since the first description by Leo Kanner, individuals with autism spectrum disorder (ASD) have been attributed a reduced empathy. However, it has not yet been clarified how empathy is specifically impaired in autism. Typically, scholars distinguish between the affective and the cognitive dimensions of empathy. The latter largely overlaps with the concept of the theory of mind (ToM), according to which we need internal inferences or simulations for gaining access to the hidden mental states of others. Since a deficit in ToM is a widely accepted explanation for difficulties of individuals with ASD in social interactions, limitations in cognitive empathy are accordingly assumed. Regarding affective empathy, there are contradictory results using various methods, showing an impaired affective empathy. The main aim of the paper is to present ASD primarily as a disorder of shared interpersonal and interaffective experiences and thus of affective empathy by means of a phenomenological analysis considering empirical studies. In this framework, a deficit of the ToM is accepted but criticized as a central explanatory approach for ASD since (1) it assumes a fundamental inaccessibility of other people, which does not correspond to our everyday social situations, and (2) it manifests developmentally long after the first signs of ASD, which means that its deficit cannot explain the basic autistic difficulties in social interactions.
Topics: Humans; Empathy; Autism Spectrum Disorder; Autistic Disorder; Theory of Mind
PubMed: 37852203
DOI: 10.1159/000533655 -
Neuropsychopharmacology Reports Sep 2023Copy number variations (CNVs) have been implicated in psychiatric and neurodevelopmental disorders. Especially, 15q13.3 deletions are strongly associated with autism...
BACKGROUND
Copy number variations (CNVs) have been implicated in psychiatric and neurodevelopmental disorders. Especially, 15q13.3 deletions are strongly associated with autism spectrum disorder (ASD), intellectual disability (ID), schizophrenia (SCZ), attention deficithyperactivity disorder (ADHD), and mood disorder.
CASE PRESENTATION
We present two siblings with ASD. They had a father with bipolar disorder (BD). Patient 1 is a 21-year-old female with ASD and mild ID, who had language delay and repetitive behavior in childhood, social difficulties, and refused to go to school because of bullying. She was hospitalized in a psychiatric hospital several times. Patient 2 is a 19-year-old male with ASD and ADHD. He did not have developmental delay, but had social difficulties and impulsiveness, then refused to go to school because of bullying. He was treated by a psychiatrist for anxiety and disrupted sleep rhythms. Array comparative genomic hybridization was performed for the siblings and parents. 15q13.3 deletions were detected in the siblings and their healthy mothers. No other pathogenic CNVs were detected. We performed whole-genome sequencing of the family and identified 13 rare missense variants in brain-expressed genes, which may be responsible for the phenotypic differences between the siblings and their mother.
CONCLUSIONS
This study shows incomplete penetrance and variable expressivity in 15q13.3 deletions. We detected second-hit variants that may explain the phenotypic differences within this family. In addition, detecting 15q13.3 deletions may lead to early diagnosis and a better prognosis with careful follow-up.
Topics: Male; Female; Humans; Young Adult; Adult; Autism Spectrum Disorder; Siblings; DNA Copy Number Variations; Comparative Genomic Hybridization; Neurodevelopmental Disorders; Intellectual Disability
PubMed: 37264739
DOI: 10.1002/npr2.12340