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Developmental Medicine and Child... Jan 2024Motor features of autism have long been acknowledged by clinicians, researchers, and community stakeholders. Current DSM-5 and ICD-11 guidelines allow clinicians to... (Review)
Review
Motor features of autism have long been acknowledged by clinicians, researchers, and community stakeholders. Current DSM-5 and ICD-11 guidelines allow clinicians to assign a co-occurring diagnosis of developmental [motor] coordination disorder (DCD) for autistic individuals with significant motor problems. DCD is characterized by poor motor proficiency with an onset of symptoms in early development. Studies have shown considerable overlap in the behavioral motor features observed in autism and DCD. However, others indicate that motor problems in autism and DCD may stem from different underlying sensorimotor mechanisms. Regardless of whether autism has a unique motor phenotype or an overlap with DCD, changes need to be made in the clinical pipeline to address motor problems in autism at the stages of recognition, assessment, diagnosis, and intervention. Consensus is needed to address unmet needs in research on the etiology of motor problems in autism and their overlap with DCD, to optimize clinical practice guidelines. The development of screening and assessment tools for motor problems that are valid and reliable for use with autistic individuals is essential, and an evidence-based clinical pipeline for motor problems in autism is urgently needed. WHAT THIS PAPER ADDS: Motor problems in autism are highly prevalent, yet underdiagnosed and poorly managed. An evidence-based clinical pipeline for motor problems in autism is urgently needed.
Topics: Humans; Autistic Disorder; Motor Skills Disorders; Autism Spectrum Disorder
PubMed: 37332143
DOI: 10.1111/dmcn.15674 -
Zhurnal Nevrologii I Psikhiatrii Imeni... 2024Autism spectrum disorder (ASD) is becoming an increasingly common disorder of the development of the nervous system in the modern world. The diagnosis is made based on... (Review)
Review
Autism spectrum disorder (ASD) is becoming an increasingly common disorder of the development of the nervous system in the modern world. The diagnosis is made based on observation of the patient's behavior, which significantly complicates the diagnosis and treatment of the disorder. The subjectivity of behavioral diagnostics dictates the need for the study of biomarkers of ASD. Over the past two decades, researchers have focused on identifying specific biological abnormalities in ASD that will help in the diagnosis of the disease. This review discusses the state of research on various biomarkers currently being developed for ASD.
Topics: Humans; Autistic Disorder; Autism Spectrum Disorder; Biomarkers; Research Personnel
PubMed: 38261284
DOI: 10.17116/jnevro202412401155 -
Molecular Autism Jul 2023Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hypopituitarism, midline brain abnormalities, and optic nerve... (Review)
Review
BACKGROUND
Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hypopituitarism, midline brain abnormalities, and optic nerve hypoplasia. Children with SOD experience varied visual impairment and endocrine dysfunction. Autistic-like behaviours have been reported; however, their nature and prevalence remain to be fully understood. The present systematic review aimed to explore the type and prevalence of neurodevelopmental impairments in children with SOD spectrum conditions.
METHODS
The search was conducted in PubMed, EMBASE, and PsycInfo. Hand-searching reference lists of included studies was conducted. All peer-reviewed, observational studies assessing behavioural and cognitive impairments or autism spectrum disorder (ASD) symptoms in children (< 18 years) with SOD, optic nerve hypoplasia, and SOD-plus were included. Studies were excluded if they did not report standardised measures of neurodevelopmental impairments or ASD outcomes.
RESULTS
From 2132 screened articles, 20 articles reporting data from a total of 479 children were included in prevalence estimates. Of 14 studies assessing cognitive-developmental outcomes, 175 of 336 (52%) children presented with intellectual disability or developmental delay. A diagnosis of ASD or clinical level of symptoms was observed in 65 of 187 (35%) children across five studies. Only five studies assessed for dysfunction across behavioural, emotional, or social domains and reported impairments in 88 of 184 (48%) of children assessed.
LIMITATIONS
Importantly, high heterogeneity among the samples in relation to their neuroanatomical, endocrine, and optic nerve involvement meant that it was not possible to statistically assess the relative contribution of these confounding factors to the specific neurodevelopmental phenotype. This was further limited by the variation in study designs and behavioural assessments used across the included studies, which may have increased the risk of information bias.
CONCLUSIONS
This systematic review suggests that the prevalence of neurodevelopmental impairments in children within the SOD spectrum may be high. Clinicians should therefore consider including formal assessments of ASD symptoms and neurodevelopmental impairments alongside routine care. There is, additionally, a need for further research to define and validate a standardised battery of tools that accurately identify neurodevelopmental impairments in SOD spectrum conditions, and for research to identify the likely causal mechanisms.
Topics: Humans; Septo-Optic Dysplasia; Autism Spectrum Disorder; Optic Nerve Hypoplasia; Hypopituitarism; Autistic Disorder
PubMed: 37491272
DOI: 10.1186/s13229-023-00559-0 -
Pediatric Clinics of North America Apr 2024Autism spectrum disorder (ASD) is clinically and etiologically heterogeneous. A causal genetic variant can be identified in approximately 20% to 25% of affected... (Review)
Review
Autism spectrum disorder (ASD) is clinically and etiologically heterogeneous. A causal genetic variant can be identified in approximately 20% to 25% of affected individuals with current clinical genetic testing, and all patients with an ASD diagnosis should be offered genetic etiologic evaluation. We suggest that exome sequencing with copy number variant coverage should be the first-line etiologic evaluation for ASD. Neuroimaging, neurophysiologic, metabolic, and other biochemical evaluations can provide insight into the pathophysiology of ASD but should be recommended in the appropriate clinical circumstances.
Topics: Child; Humans; Autism Spectrum Disorder; DNA Copy Number Variations; Genetic Testing; Neuroimaging
PubMed: 38423715
DOI: 10.1016/j.pcl.2023.12.002 -
Autism : the International Journal of... Jul 2024
Topics: Humans; Autistic Disorder; Biomedical Research; Autism Spectrum Disorder
PubMed: 38597134
DOI: 10.1177/13623613241245642 -
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 -
Cerebral Cortex (New York, N.Y. : 1991) May 2024Autism (or autism spectrum disorder) was initially defined as a psychiatric disorder, with the likely cause maternal behavior (the very destructive "refrigerator mother"... (Review)
Review
Autism (or autism spectrum disorder) was initially defined as a psychiatric disorder, with the likely cause maternal behavior (the very destructive "refrigerator mother" theory). It took several decades for research into brain mechanisms to become established. Both neuropathological and imaging studies found differences in the cerebellum in autism spectrum disorder, the most widely documented being a decreased density of Purkinje cells in the cerebellar cortex. The popular interpretation of these results is that cerebellar neuropathology is a critical cause of autism spectrum disorder. We challenge that view by arguing that if fewer Purkinje cells are critical for autism spectrum disorder, then any condition that causes the loss of Purkinje cells should also cause autism spectrum disorder. We will review data on damage to the cerebellum from cerebellar lesions, tumors, and several syndromes (Joubert syndrome, Fragile X, and tuberous sclerosis). Collectively, these studies raise the question of whether the cerebellum really has a role in autism spectrum disorder. Autism spectrum disorder is now recognized as a genetically caused developmental disorder. A better understanding of the genes that underlie the differences in brain development that result in autism spectrum disorder is likely to show that these genes affect the development of the cerebellum in parallel with the development of the structures that do underlie autism spectrum disorder.
Topics: Humans; Cerebellum; Autism Spectrum Disorder; Animals; Autistic Disorder; Purkinje Cells
PubMed: 38696597
DOI: 10.1093/cercor/bhae050 -
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 -
Journal of Pediatric Health Care :... 2023This scoping review was performed to collect, examine, and present literature on interventions promoting the diagnosis of Autism Spectrum Disorder (ASD) in U.S. primary... (Review)
Review
INTRODUCTION
This scoping review was performed to collect, examine, and present literature on interventions promoting the diagnosis of Autism Spectrum Disorder (ASD) in U.S. primary health care settings.
METHOD
The literature searched was from 2011-2022, in the English language, in PubMed, CINAHL, Psych INFO, Cochrane, and Web of Science, for persons with autism or ASD aged ≤ 18 years.
RESULTS
Six studies met the search criteria, including a quality improvement project, a feasibility study, a pilot study, and three primary care provider (PCP) intervention trials. Measured outcomes included: accuracy of diagnosis (n = 4), practice change maintenance (n = 3), time to diagnosis (n = 2), specialty clinic appointment wait time (n = 1), PCP comfort making ASD diagnosis (n = 1), and increased ASD diagnosis (n = 1).
DISCUSSION
Results inform future implementation of PCP ASD diagnosis for the most obvious cases of ASD and research evaluating PCP training, using longitudinal measures of PCP knowledge of ASD and intention to diagnose.
Topics: Humans; Autism Spectrum Disorder; Pilot Projects; Autistic Disorder; Language; Primary Health Care
PubMed: 37178094
DOI: 10.1016/j.pedhc.2023.04.003 -
Journal of Psychiatric Research Aug 2023People with mental disorders, such as psychosis or autism spectrum disorder (ASD), often present impairments in social cognition (SC), which may cause significant... (Review)
Review
People with mental disorders, such as psychosis or autism spectrum disorder (ASD), often present impairments in social cognition (SC), which may cause significant difficulties in real-world functioning. SC deficits are seen also in unaffected relatives, indicating a genetic substratum. The present review evaluated the evidence on the association between SC and the polygenic risk score (PRS), a single metric of the molecular genetic risk to develop a specific disorder. In July 2022, we conducted systematic searches in Scopus and PubMed following the PRISMA-ScR guidelines. We selected original articles written in English reporting results on the association between PRSs for any mental disorder and domains of SC either in people with mental disorders or controls. The search yielded 244 papers, of which 13 were selected for inclusion. Studies tested mainly PRSs for schizophrenia, ASD, and attention-deficit hyperactivity disorder. Emotion recognition was the most investigated domain of SC. Overall, evidence revealed that currently available PRSs for mental disorders do not explain variation in SC performances. To enhance the understanding of mechanisms underlying SC in mental disorders, future research should focus on the development of transdiagnostic PRSs, study their interaction with environmental risk factors, and standardize outcome measurement.
Topics: Humans; Social Cognition; Autism Spectrum Disorder; Psychotic Disorders; Attention Deficit Disorder with Hyperactivity; Risk Factors
PubMed: 37418886
DOI: 10.1016/j.jpsychires.2023.06.029