Autism spectrum disorders and epilepsy in children: A commentary on the occurrence of autism in epilepsy; how it can present differently and the challenges associated with diagnosis

Holmes, Harriet; Sawer, Francesca; Clark, Maria

doi:10.1016/j.yebeh.2021.107813

Cited by 12 publications

(10 citation statements)

References 35 publications

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“…Besides, ADHD may further exacerbate the impaired social functioning of ASD individuals. Our patient presented with epilepsy, too, as did another seven XG patients with ASD, confirming the frequent co-occurrence between these two disorders sharing etiopathogenetic factors, among which mutations in synaptic genes (i.e., synapthopathies) [35,36]. Furthermore, early-onset epilepsy is a risk factor for developing ASD itself [36], thus confirming a profound reciprocal interaction between these two disorders.…”

Section: Discussionsupporting

confidence: 76%

“…Our patient presented with epilepsy, too, as did another seven XG patients with ASD, confirming the frequent co-occurrence between these two disorders sharing etiopathogenetic factors, among which mutations in synaptic genes (i.e., synapthopathies) [35,36]. Furthermore, early-onset epilepsy is a risk factor for developing ASD itself [36], thus confirming a profound reciprocal interaction between these two disorders. In this framework, the severe pragmatic impairment detected in our proposita could reflect the strong association between early-onset epilepsy and ASD [37].…”

Section: Discussionsupporting

confidence: 76%

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Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review

et al. 2021

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Background: Xia–Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 (AHDC1) gene, which is characterised by a wide spectrum of clinical manifestations, including global developmental delay, intellectual disability, structural abnormalities of the brain, global hypotonia, feeding problems, sleep difficulties and apnoea, facial dysmorphisms, and short stature. Methods: Here, we report on a girl patient who shows a peculiar cognitive and behavioural profile including high-functioning autism spectrum disorder (ASD) without intellectual disability and provide information on her developmental trajectory with the aim of expanding knowledge of the XGS clinical spectrum. On the basis of the current clinical case and the literature review, we also attempt to deepen understanding of behavioural and psychiatric manifestations associated with XGS. Results: In addition to the patient we described, a considerable rate of individuals with XGS display autistic symptoms or have been diagnosed with an autistic spectrum disorder. Moreover, the analysis of the few psychopathological profiles of patients with XGS described in the literature shows a frequent presence of aggressive and self-injurious behaviours that could be either an expression of autistic functioning or an additional symptom of the ASD evolution. A careful investigation of the abovementioned symptoms is therefore required, since they could represent a “red flag” for ASD.

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Section: Discussionsupporting

confidence: 76%

Section: Discussionsupporting

confidence: 76%

Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review

et al. 2021

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“…Hence, case finding by identifying early signs that precede ASD diagnosis could promote closer monitoring of infants who are at risk and better provide opportunities for improving the developmental outcome with early treatment 7 . Diagnosing ASD can be complicated by deviation of the clinical phenotype of ASD patients with epilepsy from the usual trajectory, and symptoms might change as seizures and electroencephalography (EEG) abnormalities fluctuate over time 8 …”

Section: Introductionmentioning

confidence: 99%

“…7 Diagnosing ASD can be complicated by deviation of the clinical phenotype of ASD patients with epilepsy from the usual trajectory, and symptoms might change as seizures and electroencephalography (EEG) abnormalities fluctuate over time. 8 A common biological mechanism for childhood epilepsy and comorbid ASD is suggested from their overlapping prevalence, which may include subgroups of epilepsy and autism genes that have similar phenotypic manifestations and biological functions. 9 A common association has been reported since the late 1980s, 10,11 with recognition of children presenting with infantile spasms and comorbid ASD in the context of tuberous sclerosis complex (TSC).…”

mentioning

confidence: 99%

The epilepsy–autism spectrum disorder phenotype in the era of molecular genetics and precision therapy

et al. 2021

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Autism spectrum disorder (ASD) is a childhood developmental disorder characterized by impairments in communication and social interactions along with the presence of repetitive and perseverant behaviors, and is prevalent in between 0.75% and 1.68% of the pediatric population. 1-3 ASD has been considered a well-known comorbidity in infants with an epileptic encephalopathy, such as infantile spasms; however, the bidirectional and temporal relationship between childhood epilepsy and ASD, as well as causal mechanisms, are still not fully understood. 4 In

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“…Gastrointestinal problems, attention deficit hyperactivity disorder (ADHD), bipolar disorder, Tourette syndrome and tic disorders, Childhood-onset schizophrenia and epilepsy, and conditions such as sleeping, feeding, and toilet problems have been identified as comorbidities that are associated with ASD. Studies have shown that the prevalence of ASD in epilepsy is high and that it has similar etiological aspects (6,10,11). There are limited treatment options for improving the symptoms seen and for the accompanying mental or clinical manifestations that may increase the severity of the disease in ASD.…”

Section: Introductionmentioning

confidence: 99%

The Study of Whole Genome Sequencing in Monozygotic Twins with Autism Spectrum Disorder

Çoşkunpınar¹,

Günal²

2022

experimed

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Objective: Autism spectrum disorder (ASD), the most well-known type of neurodevelopmental disorder, is a mental development disorder. Since there is no definitive biomarker for ASD, diagnosis is made based on the assessment of the patient's behavior. In addition to behavioral and social disorders, genetic factors are also important in ASD. Materials and Methods:In the study, variant analyses were performed by whole genome sequencing (WGS) method, as well as evaluating the clinical features of two monozygotic twin couples (one discordant and the other concordant).Results: According to the WGS results, thirteen high pathogenic variants were detected in twenty-nine novel candidate genes. Candidate genes include MEAF6,

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Autism spectrum disorders and epilepsy in children: A commentary on the occurrence of autism in epilepsy; how it can present differently and the challenges associated with diagnosis

Cited by 12 publications

References 35 publications

Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review

Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review

The epilepsy–autism spectrum disorder phenotype in the era of molecular genetics and precision therapy

The Study of Whole Genome Sequencing in Monozygotic Twins with Autism Spectrum Disorder

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