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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 -
Scientific Reports Nov 2023Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder caused by multiple factors, lacking clear biomarkers. Diagnosing ASD still relies on...
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder caused by multiple factors, lacking clear biomarkers. Diagnosing ASD still relies on behavioural and developmental signs and usually requires lengthy observation periods, all of which are demanding for both clinicians and parents. Although many studies have revealed valuable knowledge in this field, no clearly defined, practical, and widely acceptable diagnostic tool exists. In this study, 26 children with ASD (ASD+), aged 3-5 years, and 26 sex and age-matched controls are studied to investigate the diagnostic potential of the Attenuated Total Reflectance-Fourier Transform Infrared (ATR-FTIR) spectroscopy. The urine FTIR spectrum results show a downward trend in the 3000-2600/cm region for ASD+ children when compared to the typically developing (TD) children of the same age. The average area of this region is 25% less in ASD+ level 3 children, 29% less in ASD+ level 2 children, and 16% less in ASD+ level 1 children compared to that of the TD children. Principal component analysis was applied to the two groups using the entire spectrum window and five peaks were identified for further analysis. The correlation between the peaks and natural urine components is validated by artificial urine solutions. Less-than-normal levels of uric acid, phosphate groups, and ammonium ([Formula: see text]) can be listed as probable causes. This study shows that ATR-FTIR can serve as a practical and non-invasive method to screen ASD using the high-frequency region of the urine spectrum.
Topics: Child; Humans; Autism Spectrum Disorder; Spectroscopy, Fourier Transform Infrared; Biomarkers; Neurodevelopmental Disorders
PubMed: 37945643
DOI: 10.1038/s41598-023-46507-z -
European Journal of Medical Research Jun 2024Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders that affect individuals' social interactions, communication skills, and behavioral patterns,... (Review)
Review
Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders that affect individuals' social interactions, communication skills, and behavioral patterns, with significant individual differences and complex etiology. This article reviews the definition and characteristics of ASD, epidemiological profile, early research and diagnostic history, etiological studies, advances in diagnostic methods, therapeutic approaches and intervention strategies, social and educational integration, and future research directions. The highly heritable nature of ASD, the role of environmental factors, genetic-environmental interactions, and the need for individualized, integrated, and technology-driven treatment strategies are emphasized. Also discussed is the interaction of social policy with ASD research and the outlook for future research and treatment, including the promise of precision medicine and emerging biotechnology applications. The paper points out that despite the remarkable progress that has been made, there are still many challenges to the comprehensive understanding and effective treatment of ASD, and interdisciplinary and cross-cultural research and global collaboration are needed to further deepen the understanding of ASD and improve the quality of life of patients.
Topics: Humans; Autism Spectrum Disorder; Quality of Life; Precision Medicine
PubMed: 38858682
DOI: 10.1186/s40001-024-01916-2 -
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 -
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 -
Biochemical Society Transactions Feb 2024Heterozygous, de novo, loss-of-function variants of the CHD8 gene are associated with a high penetrance of autism and other neurodevelopmental phenotypes. Identifying... (Review)
Review
Heterozygous, de novo, loss-of-function variants of the CHD8 gene are associated with a high penetrance of autism and other neurodevelopmental phenotypes. Identifying the neurodevelopmental functions of high-confidence autism risk genes like CHD8 may improve our understanding of the neurodevelopmental mechanisms that underlie autism spectrum disorders. Over the last decade, a complex picture of pleiotropic CHD8 functions and mechanisms of action has emerged. Multiple brain and non-brain cell types and progenitors appear to be affected by CHD8 haploinsufficiency. Behavioural, cellular and synaptic phenotypes are dependent on the nature of the gene mutation and are modified by sex and genetic background. Here, I review some of the CHD8-interacting proteins and molecular mechanisms identified to date, as well as the impacts of CHD8 deficiency on cellular processes relevant to neurodevelopment. I endeavour to highlight some of the critical questions that still require careful and concerted attention over the next decade to bring us closer to the goal of understanding the salient mechanisms whereby CHD8 deficiency causes neurodevelopmental disorders.
Topics: Humans; Transcription Factors; DNA-Binding Proteins; Autism Spectrum Disorder; Mutation; Neurodevelopmental Disorders
PubMed: 38288845
DOI: 10.1042/BST20220926 -
Tidsskrift For Den Norske Laegeforening... Feb 2024
Topics: Female; Humans; Autistic Disorder; Autism Spectrum Disorder; Sex Factors
PubMed: 38349096
DOI: 10.4045/tidsskr.23.0738 -
Neuroscience and Biobehavioral Reviews Feb 2024Cognitive flexibility is a fundamental process that underlies adaptive behaviour in response to environmental change. Studies examining the profile of cognitive... (Meta-Analysis)
Meta-Analysis Review
Cognitive flexibility is a fundamental process that underlies adaptive behaviour in response to environmental change. Studies examining the profile of cognitive flexibility in autism spectrum disorder (ASD) have reported inconsistent findings. To address whether difficulties with cognitive flexibility are characteristic of autism, we conducted a random-effects meta-analysis and employed subgroup analyses and meta-regression to assess the impact of relevant moderator variables such as task, outcomes, and age. Fifty-nine studies were included and comprised of 2122 autistic individuals without intellectual disabilities and 2036 neurotypical controls, with an age range of 4 to 85 years. The results showed that autistic individuals have greater difficulties with cognitive flexibility, with an overall statistically significant small to moderate effect size. Subgroup analyses revealed a significant difference between task outcomes, with perseverative errors obtaining the largest effect size. In summary, the present meta-analysis highlights the existence of cognitive flexibility difficulties in autistic people, in the absence of learning disabilities, but also that this profile is characterised by substantial heterogeneity. Potential contributing factors are discussed.
Topics: Humans; Child, Preschool; Child; Adolescent; Young Adult; Adult; Middle Aged; Aged; Aged, 80 and over; Autism Spectrum Disorder; Cognition; Executive Function; Autistic Disorder
PubMed: 38104788
DOI: 10.1016/j.neubiorev.2023.105511 -
BMC Pediatrics Sep 2023Autism spectrum disorder (ASD) is a neurodevelopmental disability associated with deficiency in social interaction, unusual development of social communication, and...
BACKGROUND
Autism spectrum disorder (ASD) is a neurodevelopmental disability associated with deficiency in social interaction, unusual development of social communication, and restricted or repetitive behaviors, interests and activities. This study aimed to describe management of pediatric ASD in Cameroon, a resource-constrained Central Africa country.
METHODS
A retrospective study was conducted between December 2021 and May 2022 at the Pediatrics department of a reference hospital in the town of Douala. Data of interest of children with ASD were collected through eligible medical records and telephone discussions with their parents/guardians.
RESULTS
Medical records of 145 children with ASD aged 2-15 years were included in the study, giving a hospital ASD prevalence of 3.7%. Time delay between parental concerns and hospital management was specified in 69 (47.58%) children, and among them 38 (55.07%) had a mean delay ± SD was less than five months. Children were mainly males (76%) and aged 4-5 years (37.93%), with mean age ± SD of 44.4 ± 22.2 months old. The main consultation reason was delayed language development (100%). Mean time delay between parental concerns and the first medical consultation was 18 months (range 1-60 month). Attention deficit hyperactivity disorder were found in 68.18% of children aged ≥ 6 years old. Neuropsychology (66.2%) was the most frequently used intervention. Some children were treated using traditional medicine.
CONCLUSIONS
Management of pediatric ASD is strongly influenced by socioeconomic and cultural context. It is crucial to implement behavioral change campaigns in community, organize training sessions to medical staff on diagnosis and treatment of ASD, and provide specialized centers with skilled staff and equipped material.
Topics: Male; Humans; Child; Infant; Child, Preschool; Female; Cameroon; Autism Spectrum Disorder; Retrospective Studies; Hospitals; Language
PubMed: 37704945
DOI: 10.1186/s12887-023-04242-4 -
Current Medicinal Chemistry 2024Autism spectrum disorder (ASD) is an umbrella term for developmental disorders characterized by social and communication impairments, language difficulties, restricted... (Review)
Review
Autism spectrum disorder (ASD) is an umbrella term for developmental disorders characterized by social and communication impairments, language difficulties, restricted interests, and repetitive behaviors. Current management approaches for ASD aim to resolve its clinical manifestations based on the type and severity of the disability. Although some medications like risperidone show potential in regulating ASD-associated symptoms, a comprehensive treatment strategy for ASD is yet to be discovered. To date, identifying appropriate therapeutic targets and treatment strategies remains challenging due to the complex pathogenesis associated with ASD. Therefore, a comprehensive approach must be tailored to target the numerous pathogenetic pathways of ASD. From currently viable and basic treatment strategies, this review explores the entire field of advancements in ASD management up to cutting-edge modern scientific research. A novel systematic and personalized treatment approach is suggested, combining the available medications and targeting each symptom accordingly. Herein, summarize and categorize the most appropriate ways of modern ASD management into three distinct categories: current, promising, and prospective strategies.
Topics: Humans; Autism Spectrum Disorder; Prospective Studies
PubMed: 37888815
DOI: 10.2174/0109298673252910230920151332