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PubMed2001

An open trial of divalproex sodium in autism spectrum disorders.

BACKGROUND: Autism spectrum disorders are characterized by core deficits in social interaction and speech/communication skills, repetitive behaviors, and restricted interests. Other abnormalities include seizures, electroencephalographic (EEG) abnormalities, affective instability, impulsivity, and aggression. Divalproex sodium is indicated as both an anticonvulsant in epilepsy and a mood stabilizer in bipolar illness and thus might be useful for these complicating symptoms in autism. METHOD: A retrospective pilot study was conducted to determine whether divalproex sodium was effective in treating core dimensions and associated features of autism. Fourteen patients who met DSM-IV criteria for autism, Asperger's disorder, or pervasive developmental disorder not otherwise specified, both with and without a history of seizure disorders or EEG abnormalities, were openly treated with divalproex sodium. Improvement was assessed via the Clinical Global Impressions-Improvement scale. RESULTS: Of 14 patients who completed a trial of divalproex sodium, 10 (71%) were rated as having sustained response to treatment. The mean dose of divalproex sodium was 768 mg/day (range, 125-2500 mg/day), and it was generally well tolerated. Improvement was noted in core symptoms of autism and associated features of affective instability, impulsivity, and aggression. CONCLUSION: Divalproex sodium may be beneficial to patients with autism spectrum disorders, particularly those with associated features of affective instability, impulsivity, and aggression as well as those with a history of EEG abnormalities or seizures. Of note, all patients with an abnormal EEG and/or seizure history were rated as responders. However, these findings must be interpreted with caution, given the open retrospective nature of the study. Controlled trials are needed to replicate these preliminary findings.

Adolescent↗

PubMed2005

[Functional neuroanatomical correlations of the perisylvian area in autism spectrum disorders].

INTRODUCTION: Autism spectrum disorders cover a continuum of disorders ranging from severe autism to mild autism and Asperger's syndrome. They are considered to be a subgroup of the pervasive development disorders and are characterised by the alteration of three basic areas of behaviour, qualitative alterations in reciprocal social interaction, qualitative alterations in communication and patterns of behaviour, and stereotyped, repetitive and restrictive activities and interests. These alterations are expressed to a greater or lesser degree depending on the level of severity of the disorder and can be detected and quantified by clinical instruments such as the ADI-R (Autism Diagnostic Interview-Revised) and the CARS (Childhood Autism Rating Scale). AIMS. Our aim was to establish a relationship between the specific behavioural characteristics of autism (evaluated by ADI-R and CARS) and brain structures and functions. PATIENTS AND METHODS: The sample was made up of 10 subjects (9 boys and 1 girl) diagnosed with pervasive development disorder. RESULTS: We obtained statistically significant Spearman correlations between the ADI-R item restricted, repetitive and stereotyped behaviour patterns and the area of the right inferior precentral gyrus. A positive correlation was also found between the item for abnormality or apparent deviation in development before the age of 36 months and the right supramarginal gyrus area, while the correlation was negative between the former and the left postcentral gyrus. There was also a significant correlation between the number of perisylvian areas and epileptiform activity and qualitative incapacity in communication on the ADI-R, and some items on the CARS with areas of the perisylvian zone. CONCLUSIONS: Our findings confirm the relation between functional alterations of the different areas that make up the perisylvian region and the distinct behavioural features that define and characterise autism.

Autistic Disorder↗

PubMed2026

Clinical Utility of Trio Exome Sequencing in Rwandan Children With Autism Spectrum Disorder.

INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental condition with substantial genetic and phenotypic heterogeneity. However, populations of African ancestry remain underrepresented in genomic studies, limiting understanding of ASD genetic architecture. This study aimed to characterize rare, clinically relevant genetic variants in a Rwandan pediatric ASD cohort using trio-based whole-exome sequencing (WES). METHODS: Trio-based WES was performed in 31 Rwandan pediatric patients with ASD (aged 2-18 years) and their parents. Variants were analyzed using a trio-based workflow and classified according to American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines. RESULTS: Eleven candidate variants were identified in 9 of 31 patients, including four likely pathogenic variants and seven variants of uncertain significance. This resulted in a diagnostic yield of 12.9% (4/31), expanded to 29.0% when phenotypically concordant variants of uncertain significance were considered. Most likely pathogenic variants were identified in individuals with syndromic ASD who presented with intellectual disability, epilepsy, and global developmental delay. Likely pathogenic findings included two single nucleotide variants in GABRB3, SYNGAP1, and two copy-number variants involving the GNAS locus and chromosome 1p35.3-p35.2. CONCLUSIONS: The diagnostic yield observed in this cohort is consistent with previous trio-based WES studies of ASD. The findings support the clinical utility of WES for the genetic evaluation of ASD and underscore the need for expanded genomic studies in African populations.

Humans↗

PubMed2025

Prematurity and Genetic Liability for Autism Spectrum Disorder.

BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by diverse presentations and a strong genetic component. Environmental factors, such as prematurity, have also been linked to increased liability for ASD, though the interaction between genetic predisposition and prematurity remains unclear. This study aims to investigate the impact of genetic liability and preterm birth on ASD conditions. METHODS: We analyzed phenotype and genetic data from two large ASD cohorts, the Simons Foundation Powering Autism Research for Knowledge (SPARK) and Simons Simplex Collection (SSC), encompassing 78,559 individuals for phenotype analysis, 12,519 individuals with genome sequencing data, and 8,104 individuals with exome sequencing data. Statistical significance of differences in clinical measures was evaluated between individuals with different ASD and preterm status. We assessed the rare variants burden using generalized estimating equations (GEE) models and polygenic load using ASD-associated polygenic risk score (PRS). Furthermore, we developed a machine learning model to predict ASD in preterm children using phenotype and genetic features available at birth. RESULTS: Individuals with both preterm birth and ASD exhibit more severe phenotypic outcomes despite similar levels of genetic liability for ASD across the term and preterm groups. Notably, preterm ASD individuals showed an elevated rate of de novo variants identified in exome sequencing (GEE model, p=0.005) in comparison to the non-ASD preterm group. Additionally, a GEE model showed that a higher ASD PRS, preterm birth, and male sex were positively associated with a higher predicted probability for ASD, reaching a probability close to 90% in SPARK. Lastly, we developed a machine learning model using phenotype and genetic features available at birth with limited predictive power (AUROC = 0.65). CONCLUSIONS: Preterm birth may exacerbate the multimorbidity present in ASD, which was not due to the ASD genetic factors. However, increased genetic factors may elevate the likelihood of a preterm child being diagnosed with ASD. Additionally, a polygenic load of ASD-associated variants had an additive role with preterm birth in the predicted probability for ASD, especially for boys. We propose that incorporating genetic assessment into neonatal care could benefit early ASD identification and intervention for preterm infants.

Autism Spectrum Disorder↗

PubMed2026

Individual differences in brain dynamics across a social cognition network induced by cortico-cerebellar tDCS in adults with autism spectrum disorder (ASD).

Autism spectrum disorder (ASD) is a neurodevelopmental condition with core diagnostic domains of social communication impairments, restricted interests and repetitive behaviors. Idiosyncratic brain organization is a potential hallmark of ASD. Previous transcranial direct current stimulation (tDCS) studies often targeted dorsolateral prefrontal cortex, with changes oin brain dynamics averaged across the cohort. We utilized a magnetoencephalographic (MEG) array to characterize individual differences in brain dynamics induced by cortico-cerebellar tDCS across nodes of a social cognition network. A randomized, sham-controlled, double-blind, within-subject clinical trial was conducted in a cohort of 24 young adults with ASD or high autistic traits. Two separate sessions of computerized social learning activities were combined with verum/sham tDCS, with anodal electrode over right temporoparietal junction (TPJ) and cathode on right deltoid. Following stimulation, theta- and alpha-band activity were evaluated within nodes of a social cognition network: bilateral TPJ, fusiform, medial prefrontal cortex and Crus I/II of cerebellum. Idiosyncratic participant-specific up- and down-regulation of theta- and alpha-band activity occurred across the network. Activity in right Crus I/II, a region inundated by the stimulation current, strongly correlated with the change of activity summed across all cerebral cortical nodes in theta- but not alpha-band. Intrinsic theta-band activity is believed to mediate input/output relationships in cerebellar cortex and to drive synaptic plasticity. These results suggest that theta-band stimulation of cerebellar cortex might be an effective therapy for individuals on the autism spectrum who present with cerebellar hyperactivity.

Humans↗

PubMed2024

The role of co-occurring conditions and genetics in the associations of eating disorders with attention-deficit/hyperactivity disorder and autism spectrum disorder.

Eating disorders (EDs) commonly co-occur with other psychiatric and neurodevelopmental disorders including attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD); however, the pattern of family history and genetic overlap among them requires clarification. This study investigated the diagnostic, familial, and genetic associations of EDs with ADHD and ASD. The nationwide population-based cohort study included all individuals born in Denmark, 1981-2008, linked to their siblings and cousins. Cox regression was used to estimate associations between EDs and ADHD or ASD, and mediation analysis was used to assess the effects of intermediate mood or anxiety disorders. Polygenic scores (PGSs) were used to investigate the genetic association between anorexia nervosa (AN) and ADHD or ASD. Significantly increased risk for any ED was observed following an ADHD or ASD diagnosis. Mediation analysis suggested that intermediate mood or anxiety disorders could account for 44%-100% of the association between ADHD or ASD and ED. Individuals with a full sibling or maternal half sibling with ASD had increased risk of AN compared to those with siblings without ASD. A positive association was found between ASD-PGS and AN risk whereas a negative association was found between AN-PGS and ADHD. In this study, positive phenotypic associations between EDs and ADHD or ASD, mediation by mood or anxiety disorder, and genetic associations between ASD-PGS and AN and between AN-PGS and ADHD were observed. These findings could guide future research in the development of new treatments that can mitigate the development of EDs among individuals with ADHD or ASD.

Humans↗

PubMed2006

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders.

BACKGROUND: Autism spectrum disorders (ASD) refer to a broader group of neurobiological conditions, pervasive developmental disorders. They are characterised by a symptomatic triad associated with qualitative changes in social interactions, defect in communication abilities, and repetitive and stereotyped interests and activities. ASD is prevalent in 1 to 3 per 1000 people. Despite several arguments for a strong genetic contribution, the molecular basis of a most cases remains unexplained. About 5% of patients with autism have a chromosome abnormality visible with cytogenetic methods. The most frequent are 15q11-q13 duplication, 2q37 and 22q13.3 deletions. Many other chromosomal imbalances have been described. However, most of them remain undetectable using routine karyotype analysis, thus impeding diagnosis and genetic counselling. METHODS AND RESULTS: 29 patients presenting with syndromic ASD were investigated using a DNA microarray constructed from large insert clones spaced at approximately 1 Mb intervals across the genome. Eight clinically relevant rearrangements were identified in 8 (27.5%) patients: six deletions and two duplications. Altered segments ranged in size from 1.4 to 16 Mb (2-19 clones). No recurrent abnormality was identified. CONCLUSION: These results clearly show that array comparative genomic hybridisation should be considered to be an essential aspect of the genetic analysis of patients with syndromic ASD. Moreover, besides their importance for diagnosis and genetic counselling, they may allow the delineation of new contiguous gene syndromes associated with ASD. Finally, the detailed molecular analysis of the rearranged regions may pave the way for the identification of new ASD genes.

Adolescent↗

PubMed2007

Sex differences in toddlers with autism spectrum disorders.

Although autism spectrum disorders (ASD) prevalence is higher in males than females, few studies address sex differences in developmental functioning or clinical manifestations. Participants in this study of sex differences in developmental profiles and clinical symptoms were 22 girls and 68 boys with ASD (mean age = 28 months). All children achieved strongest performance in visual reception and fine motor followed by gross motor and language functioning. Sex differences emerged in developmental profiles. Controlling for language, girls achieved higher visual reception scores than boys; boys attained higher language and motor scores and higher social-competence ratings than girls, particularly when controlling for visual reception. Longitudinal, representative studies are needed to elucidate the developmental and etiological significance of the observed sex differences.

Affect↗

PubMed2006

Epigenetics of autism spectrum disorders.

The autism spectrum disorders (ASD) comprise a complex group of behaviorally related disorders that are primarily genetic in origin. Involvement of epigenetic regulatory mechanisms in the pathogenesis of ASD has been suggested by the occurrence of ASD in patients with disorders arising from epigenetic mutations (fragile X syndrome) or that involve key epigenetic regulatory factors (Rett syndrome). Moreover, the most common recurrent cytogenetic abnormalities in ASD involve maternally derived duplications of the imprinted domain on chromosome 15q11-13. Thus, parent of origin effects on sharing and linkage to imprinted regions on chromosomes 15q and 7q suggest that these regions warrant specific examination from an epigenetic perspective, particularly because epigenetic modifications do not change the primary genomic sequence, allowing risk epialleles to evade detection using standard screening strategies. This review examines the potential role of epigenetic factors in the etiology of ASD.

Autistic Disorder↗

PubMed2003

The reach-to-grasp movement in children with autism spectrum disorder.

Autism is associated with a wide and complex array of neurobehavioural symptoms. Examination of the motor system offers a particularly appealing method for studying autism by providing information about this syndrome that is relatively immune to experimental influence. In this article, we considered the relationship between possible movement disturbance and symptoms of autism and introduced an experimental model that may be useful for rehabilitation and diagnostic purposes: the reach-to-grasp movement. Research is reviewed that characterizes kinematically the reach-to-grasp movement in children with autism compared with age-matched 'controls'. Unlike the age-matched children, autistic children showed differences in movement planning and execution, supporting the view that movement disturbances may play a part in the phenomenon of autism.

Autistic Disorder↗

PubMed2005

Prevalence of overweight in children and adolescents with attention deficit hyperactivity disorder and autism spectrum disorders: a chart review.

BACKGROUND: The condition of obesity has become a significant public health problem in the United States. In children and adolescents, the prevalence of overweight has tripled in the last 20 years, with approximately 16.0% of children ages 6-19, and 10.3% of 2-5 year olds being considered overweight. Considerable research is underway to understand obesity in the general pediatric population, however little research is available on the prevalence of obesity in children with developmental disorders. The purpose of our study was to determine the prevalence of overweight among a clinical population of children diagnosed with attention deficit hyperactivity disorder (ADHD) and autism spectrum disorders (ASD). METHODS: Retrospective chart review of 140 charts of children ages 3-18 years seen between 1992 and 2003 at a tertiary care clinic that specializes in the evaluation and treatment of children with developmental, behavioral, and cognitive disorders. Diagnostic, medical, and demographic information was extracted from the charts. Primary diagnoses of either ADHD or ASD were recorded, as was information on race/ethnicity, age, gender, height, and weight. Information was also collected on medications that the child was taking. Body mass index (BMI) was calculated from measures of height and weight recorded in the child's chart. The Center for Disease Control's BMI growth reference was used to determine an age- and gender-specific BMI z-score for the children. RESULTS: The prevalence of at-risk-for-overweight (BMI > 85th%ile) and overweight (BMI > 95th%ile) was 29% and 17.3% respectively in children with ADHD. Although the prevalence appeared highest in the 2-5 year old group (42.9%ile), differences among age groups were not statistically significant. Prevalence did not differ between boys and girls or across age groups (all p > 0.05). For children with ASD, the overall prevalence of at-risk-for-overweight was 35.7% and prevalence of overweight was 19%. CONCLUSION: When compared to an age-matched reference population (NHANES 1999-2002), our estimates indicate that children with ADHD and with ASD have a prevalence of overweight that is similar to children in the general population.

Adolescent↗

PubMed2006

[A comparative study of pragmatic language disorders and autism spectrum disorders using magnetoencephalography].

INTRODUCTION: Pragmatics refers to the social use of language; its precursors are already present during the process of maturing, during the preverbal stage, and become manifest when the child starts to point and to share his or her attention with another person. In cases of specific language impairment (SLI) and autism spectrum disorders (ASD) it can be altered to varying degrees. PATIENTS AND METHODS: Due to the difficulties involved in diagnosis from a clinical point of view, we carried out a study by means of magnetoencephalography (MEG) on a series of 11 patients who had SLI and another series of 9 patients with ASD, in order to determine whether MEG is capable of distinguishing these diagnoses. RESULTS: Patients with SLI displayed pathological activity in the frontal and middle temporal regions of both hemispheres. Patients with ASD showed pathological activity in the perisylvian area. Expressive-receptive SLI with pragmatic language disorder showed pathological activity that was similar to that seen in autism. CONCLUSION: MEG can be used to distinguish between SLI and ASD by studying the epileptiform activity that occurs in pervasive developmental disorders. MEG helps us to understand the continuum that exists between SLI or expressive-receptive SLI and autism.

Autistic Disorder↗

PubMed2026

A Case Report of Infantile Dopa-Responsive Dystonia Onset With Sleep Disorder Complicated With Autism Spectrum Disorder.

AIMS/BACKGROUND: Dopa-responsive dystonia (DRD) is a rare genetic disorder with complex and diverse clinical manifestations, resulting in a high rate of misdiagnosis. This case report describes an infantile case of DRD complicated by autism spectrum disorder (ASD), initially presenting with a sleep disorder. We aim to summarize its clinical manifestations, diagnostic process, treatment, and follow-up outcomes in order to improve clinical understanding of this disease. CASE PRESENTATION: A retrospective analysis was performed on a male infant who was treated at Jinhua Maternal and Child Health Care Hospital in 2020. The patient presented at one month of age with sleep disturbances, delayed motor development, and intermittent upward deviation of the eyes. Genetic testing identified two heterozygous pathogenic variants in the tyrosine hydroxylase (TH) gene. Among them, the c.738-2A>G variant was not recorded in the Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD), or 1000 Genomes Asian population databases. During follow-up, the patient was also found to have comorbid ASD. RESULTS: Genetic testing confirmed biallelic TH mutations, establishing the diagnosis of infantile DRD. The patient exhibited marked clinical response to levodopa/benserazide, though dose titration was required with growth. CONCLUSION: For infants with unexplained sleep disorder accompanied by delayed motor development, genetic testing should be performed as early as possible to facilitate the identification of the root cause and implement timely treatment. In addition, close follow-up should be conducted to detect comorbid neurodevelopmental disorders.

Humans↗

PubMed2005

Perception and production of prosody by speakers with autism spectrum disorders.

Speakers with autism spectrum disorders (ASD) show difficulties in suprasegmental aspects of speech production, or prosody, those aspects of speech that accompany words and sentences and create what is commonly called "tone of voice." However, little is known about the perception of prosody, or about the specific aspects of prosodic production that result in the perception of "oddness." The present study examined the perception and production of a range of specific prosodic elements in an experimental protocol involving natural speech among speakers with ASD between 14 and 21 years of age, in comparison with a typical control group. Results revealed ceiling effects limiting interpretation of findings for some aspects of prosody. However, there were significant between-group differences in aspects of stress perception and production. The implications of these findings for understanding prosodic deficits is speakers with autism spectrum disorders, and for future research in this area, are discussed.

Adolescent↗

PubMed2006

Parental recognition of developmental problems in toddlers with autism spectrum disorders.

Symptoms of Autism Spectrum Disorders (ASD) begin to manifest during the first 2 years; there is limited evidence regarding type and timing of symptom onset. We examined factors related to parental age of recognition (AOR) of early abnormalities and the association between AOR and diagnosis and levels of functioning at 2 and 4 years in 75 toddlers with ASD. Results suggest significant differences between autism and PDD-NOS in the AOR and type of first concerns. Early social and motor delays as well as maternal age was associated with AOR. Later AOR was associated with poorer social-communicative and nonverbal cognitive functioning at 2 and 4. The findings are discussed in a context of identifying distinct developmental trajectories within the autism spectrum.

Age Factors↗

PubMed2007

Network model of decreased context utilization in autism spectrum disorder.

Individuals with autism spectrum disorders (ASD) demonstrate impaired utilization of context, which allows for superior performance on the "false memory" task. We report the application of a simplified parallel distributed processing model of context utilization to the false memory task. For individuals without ASD, experiments support a model wherein presentation of one word, e.g., ''apple,'' strongly activates the neighboring nodes of closely related words such as ''fruit,'' ''tree,'' whereas in ASD these neighboring nodes are relatively less activated. We demonstrate this model to be consistent with the superior performance on recognition testing on the false memory test, but not on free recall. This may have an anatomic basis in diminished hippocampal neuronal arborization and the abnormal minicolumnar pathology in ASD.

Association Learning↗

PubMed2006

Peer play interventions to support the social competence of children with autism spectrum disorders.

Children with autism spectrum disorders (ASD) have difficulty connecting with others because they often lack the communication, social interaction, and play skills necessary for developing relationships with their peers. This article highlights the characteristics of four peer intervention programs described in the literature that have been successful in facilitating the social connections between children with ASD and their typical peers. The environments established for intervention, the role of the typical peer, and the role of the adult are described across the four programs. A fifth peer intervention program is introduced that focuses on establishing peer connections in the home of the child with ASD while facilitating bids and responses for behavior regulation, social interaction, and joint attention in the child with ASD and his or her typical peer in the context of play. Implications for practice are provided as clinicians consider the role peer mediation has in intervention planning and implementation for children with ASD.

Autistic Disorder↗

PubMed2000

Increased discrimination of "false memories" in autism spectrum disorder.

Individuals with autism spectrum disorder (ASD) have impaired ability to use context, which may manifest as alterations of relatedness within the semantic network. However, impairment in context use may be more difficult to detect in high-functioning adults with ASD. To test context use in this population, we examined the influence of context on memory by using the "false memory" test. In the false memory task, lists of words were presented to high-functioning subjects with ASD and matched controls. Each list consists of words highly related to an index word not on the list. Subjects are then given a recognition test. Positive responses to the index words represent false memories. We found that individuals with ASD are able to discriminate false memory items from true items significantly better than are control subjects. Memory in patients with ASD may be more accurate than in normal individuals under certain conditions. These results also suggest that semantic representations comprise a less distributed network in high-functioning adults with ASD. Furthermore, these results may be related to the unusually high memory capacities found in some individuals with ASD. Research directed at defining the range of tasks performed superiorly by high-functioning individuals with ASD will be important for optimal vocational rehabilitation.

Adult↗