scholarly journals Clinical phenotype of autism spectrum disorders in children of preschool and school age, burdened epileptic seizures

2019 ◽  
Vol 25 (2) ◽  
pp. 81-87
Author(s):  
I. A. Martsenkovsky ◽  
T. O. Skrypnyk ◽  
I. I. Martsenkovska ◽  
I. F. Zdoryk ◽  
H. V. Makarenko

Background. Clinical polymorphism and polymorphism are inherent in the clinical phenotype of children with autism spectrum disorders (ASD). There is a consensus, relatively high, between 5% and 38% of the prevalence of epilepsy in ASD. There are reasons to believe that ASD with epilepsy and specific epileptic activity on EEG and ASD with hyperkinetic symptoms without signs of epileptic process can be determined by different variants of genetic polymorphism or by different variants of gene expression, determined by different influences. Objective – to study the features of the clinical phenotype of ASD in preschool and school-age children with epileptic seizures and specific epileptic activity on EEG. Materials and methods. In the Department of Mental Disorders of Children and Adolescents of the Institute of Psychiatry of the Ministry of Health of Ukraine 116 children aged 2-10 years with ASD were examined. The study group was divided into three subgroups: subgroup A – 23 children with a history of epileptic seizures, subgroup B – 35 children with specific forms of epileptic activity on EEG without epileptic seizures, subgroup C – 19 children with ASD having specific epileptic activity for EEG repetitive involuntary movements (motor stereotypes, motor tics) and vocalizations (vocal tics). The control group consisted of 39 children with ASD non a history of seizures and specific epileptic activity on the EEG. The follow-up of children with ASD in the comparison groups was performed for 1-1.5 years. We used such research methods: clinical-psychopathological, psychodiagnostic, psychometric, statistical. Results. In children with ASD and comorbid epileptic seizures, disorders of social reciprocity are of crucial diagnostic importance. Communication disorders and recurrent, stereotyped behaviors, movements, and interests in children in this group are significantly less common than in comparison groups. Incidents of repetitive stereotypes in these children are associated with sensory impairments and autostimulations. Children with ASD, complicated by severe and frequent epileptic seizures, are characterized by impaired social reciprocity and communication against the background of regression or stagnation of speech and motor skills development. Disorders of communication and repetitive behavior in ASD in children of different ages are represented by different monoqualitative syndrome (phenotypes). Younger children less than 6 years of age are dominant in stereotypical movements, while children aged 6-8 years have repetitive behaviors associated with the overriding interests. Two subtypes of clinical phenotypes of ASD were identified: the variant with symptoms, which more closely determined the stereotypical sensor and motor behavior and the variant with symptoms of insistence on equality, with the overriding interests of preservation, identity. Movement stereotypes predominated in children with ASD without epileptic seizures and without epileptic activity on EEG. In children with ASD and epileptic activity on EEG, motor stereotypes and repetitive identity-preserving behavior were equally common. Conclusions. Disorders of social reciprocity, communication, repetitive behavior, in particular stereotyped movements are diagnostically significant signs of ASD, in particular ASD complicated by epileptic seizures, ASD with specific epileptic activity on EEG. According to the results of a long 1-1.5 years’ prospective study, it was established that the clinical phenotype of ASD with epileptic seizures, ASD without epileptic seizures with specific epileptic activity on EEG and RAS without epileptic seizures and changes in EEG are characterized by differing clinical picture and course. Qualitative communication disorders and stereotypical movements in addition to ASD are observed in other psychiatric disorders, including Tourette disorder, obsessive-compulsive disorders, and intellectual disability. Expressed repeated identity-preserving behavior is the basis for dual diagnosis of ASD and obsessive-compulsive disorder. Motor and vocal tics may be the basis for dual diagnosis of ASD and Tourette’s disorder. The presence of age-related pathoplasty of clinical manifestations of ASD in the comparison groups was established.

Author(s):  
Bram Gooskens ◽  
Dienke J. Bos ◽  
Jilly Naaijen ◽  
Sophie E.A. Akkermans ◽  
Anna Kaiser ◽  
...  

AbstractRepetitive behavior is a core symptom of Autism Spectrum Disorder (ASD) and Obsessive-Compulsive Disorder (OCD), and has been associated with impairments in cognitive control. However, it is unclear how cognitive control and associated neural circuitry relate to the development of repetitive behavior in children with these disorders. In a multicenter, longitudinal study (TACTICS; Translational Adolescent and Childhood Therapeutic Interventions in Compulsive Syndromes), the development of cognitive control was assessed during late childhood using a longitudinal fMRI design with a modified stop-signal task in children with ASD or OCD, and typically developing (TD) children (baseline: N=122 (8-12y), follow-up: N=72 (10-14y), average interval: 1.2y). Stop-signal reaction time (SSRT) decreased over development, regardless of diagnosis. Repetitive behavior in children with ASD and OCD was not associated with performance on the stop-signal task. There were no whole-brain between-group differences in brain activity, but ROI-analyses showed increases in activity in right precentral gyrus over development for children with OCD. In sum, even though subtle differences were observed in the development of brain activity in children with OCD, the findings overall suggest that the development of cognitive control, as assessed by the stop signal task, is similar in children with and without ASD or OCD.


Author(s):  
Tetiana Skrypnyk

Autism spectrum disorders (ASD) are characterized by significant genetic and clinical polymorphism, comorbidity with neurological and mental disorders. In children with ASD, hotbeds of epileptiform and specific epileptic activity are often registered on the electroencephalogram (EEG), which have a causal relationship with behavioral and emotional disorders. The presence of specific epileptic activity on the EEG, impaired social reciprocity and repetitive behavior may be manifestations of a single pathological process, that results in developmental disorder. The course of ASD can be complicated by epileptic seizures, in particular with the use of neurometabolic drugs. According to the results of some controlled studies, antiepileptic drugs (AED) have shown their effectiveness in the treatment of mental disorders in ASD, including emotional instability, irritability, inhibition of movement. AED which stimulate neurotransmission of γ-aminobutyric acid, are more effective in ASD than blockers of the glutamatergic system. Thymoisoleptic properties of some AED, in particular carbamazepine, valproate acid, lamotrigine in some controlled studies have shown efficacy in the regulation of mood disorders in both children with ASD and children with epilepsy. With the use of carbamazepine, topiramate in children with ASD, there may be impaired attention and cognitive activity; deterioration of attention may be accompanied by increased hyperactivity, impulsivity, motor deceleration. The use of AEDs should be expected to increase the frequency and severity of side effects, including cognitive impairment, motor development, which may lead to impaired general functioning and premature disability, even with seizure control. Specific data on alternative treatments for ASD with seizures such as diet (ketogenic, modified Atkins) are discussed.


2018 ◽  
Vol 8 (2) ◽  
pp. 95
Author(s):  
Joshua L. Haworth ◽  
Klaus Libertus ◽  
Rebecca J. Landa

Anticipatory looking in the context of goal-directed actions emerges during the first year of life. However, children with autism spectrum disorder (ASD) often show diminished social gaze and anticipation while observing goal-directed actions. The current study examined a therapist-mediated social intervention targeting action-anticipation, goal-extraction, and social gaze in 18 children with ASD diagnosis. Before and after the intervention period, children viewed a video displaying a toddler repeatedly placing blocks into a bowl using a cross-body motion. Gaze to the actor’s face and anticipatory gaze to the goal location were analyzed. Results revealed that young children with ASD understand repeated actions and demonstrate goal-extraction even before exposure to the intervention. Further, targeted social intervention experience led to a redistribution of attention in favor of the actor’s face, while retaining action intention comprehension of the block transfer activity. Attention to social aspects during action observation by children with ASD could have favorable cascading effects on social reciprocity, social contingency, and theory of mind development.


2020 ◽  
Author(s):  
Dienke J. Bos ◽  
Daniella Dobos ◽  
Bob Oranje ◽  
Sarah Durston

Background: While Autism Spectrum Disorder (ASD) and Attention Deficit/Hyperactivity Disorder (ADHD) may intuitively seem to be on the extremes of a single spectrum (ranging from impulsive to rigid), symptoms of ASD and ADHD often co-occur in the same children. This study aimed to provide an in-depth characterization of ADHD and ASD symptoms in children with and without ASD and/or ADHD using questionnaire data. Methods: In total, we included 702 symptom measurements from 484 children aged between 6 and 18 years with ADHD (N=155), ASD (N=141), or typically developing (N=188) and analyzed these using linear mixed-effects models. We used latent-profile analysis (LPA) to investigate patterns of comorbid ADHD and ASD symptoms. Results: The present study investigated restricted and repetitive behavior and symptoms of ADHD across a large sample of children with ASD and/or ADHD, compared to typically developing peers. We found that children with comorbid ASD and ADHD had the most severe symptoms that persisted over development. Children with a primary ADHD diagnosis had elevated levels of restricted and repetitive behavior, and children with ASD also had symptoms of ADHD. Latent profile analysis (LPA) further suggested that patterns of symptom comorbidity are not specific to diagnostic categories.Conclusions: We found severe and persistent ASD and ADHD symptoms in children with comorbid ASD and ADHD. Children with a single diagnosis of ASD or ADHD had more moderate symptoms that improved with age. Furthermore, children with ASD had elevated ADHD symptoms, and vice versa, suggesting that symptoms are not specific to diagnostic categories.


2018 ◽  
Author(s):  
Dienke J. Bos ◽  
Melanie R. Silverman ◽  
Eliana L. Ajodan ◽  
Cynthia Martin ◽  
Benjamin Silver ◽  
...  

The present study tested whether salient affective cues would negatively influence cognitive control in children with and without autism spectrum disorder (ASD). 100 children aged 6-12 years who were either typically developing or had ASD performed a novel go/nogo task to cues of their interest versus cues of non-interest. Using Linear Mixed-Effects models group differences in hit rate, false alarms and d-prime were tested. Caregivers completed the Repetitive Behavior Scale - Revised (RBS-R) to test associations between repetitive behaviors and task performance. Children with ASD had reduced cognitive control towards their interests compared to typically developing children. Further, children with ASD showed reduced cognitive control to interests as compared to their own non-interests, a pattern not observed in typically developing children. Decreased cognitive control towards interests was associated with higher insistence on sameness behavior in ASD, but there was no association between sameness behavior and cognitive control for non-interests. Together, children with ASD demonstrated decreased cognitive flexibility in the context of increased affective salience related to interests. These results provide a mechanism for how salient affective cues, such as interests, interfere with daily functioning and social communication in ASD. Further, the findings have broader clinical implications for understanding how affective cues can drive interactions between restricted patterns of behavior and cognitive control.


2018 ◽  
Vol 39 (02) ◽  
pp. 144-157 ◽  
Author(s):  
Kelly Whalon

AbstractFoundational to autism spectrum disorder (ASD) are difficulties developing joint attention, social reciprocity, and language/communication. These challenges place children with ASD at risk for future reading failure. Research suggests that many school-aged children with ASD will learn the decoding skills necessary to effectively read text, but will struggle with comprehension. Yet, the reading profiles of learners with ASD also show great heterogeneity, with some also unable to effectively decode new words. The range of challenges associated with ASD highlights the need for comprehensive literacy/reading instruction that addresses both code- and meaning-focused skills from the earliest grades. This article will provide an overview of effective interventions that support both the code- and meaning-focused skills of learners with ASD. Specific examples of effective instructional practices for learners with ASD will be shared.


Author(s):  
Laurie J. Burton ◽  
Pradip P. Kamat

Children with autism spectrum disorders (ASD) require procedural sedation for a variety of diagnostic and therapeutic reasons. Patients with ASD present a challenge to the sedationist due to a variety of issues, including impairment in social interaction, barriers to communication, complex behavioral patterns, stereotyped repetitive behavior, mental health issues, and a need for consistency in terms of environment and caregivers. Children with ASD, especially teenagers, can exhibit aggressive behavior, self-injury, and temper tantrums, which can lead to issues with efficient and safe preparation for procedural sedation. Other challenges include the need for additional resources, difficulties in approaching the patient to perform a physical examination, delays in administering premedications, and difficulty obtaining intravenous access prior to the procedure. Children with ASD are more likely to be referred for general anesthesia due to these problems. This chapter discusses the role of the sedationist in the procedural sedation of these children.


2018 ◽  
Vol 29 (05) ◽  
pp. 378-388
Author(s):  
Susan Wiley ◽  
Jareen Meinzen-Derr ◽  
Lisa Hunter ◽  
Rebekah Hudock ◽  
Dora Murphy ◽  
...  

AbstractThere is a significant lack of evidence guiding our understanding of the needs of families of children who are deaf/hard of hearing (Deaf/HH) with an autism spectrum disorder (ASD). Much of our current knowledge is founded in case report studies with very small numbers of children with the dual diagnosis.The purpose of this study was to gain an understanding of the factors relating to caregiver stress and needs (i.e., supports and interventions) in families of children who are Deaf/HH with ASD.Comparison groups of families of children who were Deaf/HH, families with a hearing child with ASD, and families of children who were Deaf/HH with ASD were administered standardized questionnaires of stress with brief qualitative questionnaires focusing on family-identified needs.Six families of children with the dual diagnosis, four families of children who were Deaf/HH, and three families of children with ASD.Surveys included demographic and support questionnaires, the Parenting Stress Index (PSI), the Pediatric Hearing Impairment Caregiver Experience, and a qualitative questionnaire.Families of children who were Deaf/HH with ASD had a higher median total stress score on the PSI as compared to families of children who were Deaf/HH only (58.5 versus 41.5, respectively; p = 0.02) and higher Child Domain scores (60 versus 43, respectively; p = 0.02), indicating higher levels of stress in families of children with the dual diagnosis. The families of children who were Deaf/HH with ASD reported similar levels of stress as families of children with ASD.Families of children who are Deaf/HH with an ASD experience stress and describe similar needs and priorities as families of hearing children with ASD. This suggests the needs related to having an autism spectrum disorder are of high priority in families of children with the dual diagnosis.


2016 ◽  
Vol 21 (3) ◽  
pp. 56-66
Author(s):  
R.L. Esterbrook ◽  
S.A. Esterbrook ◽  
A. Dreyfus ◽  
T.A. Karpekova ◽  
E.N. Soldatenkova

The article presents an analysis of theoretical principles and methodological approaches within the framework of research schools both in the United States and Russia; these schools provide the basis for the development of effective learning and communication skills for children with Autism Spectrum Disorders (ASD). The authors consider the indicators for communication disorders in children with ASD, as well as the main strategies for overcoming them in the context of utilizing verbal behavior analysis (B.F. Skinner, M.L. Sundberg, J.W. Partington, and M.L. Barbera - USA), the tradition of cultural-historical psychology (L.S. Vygotsky, D.B. Elkonin, B.D. Elkonin - Russia), reflective-activity approach (A.N. Leontiev, V.K. Zaretsky – Russia), the theory of systemic dynamic localization of higher mental functions(A.R. Luria – Russia), and method of ”replacing ontogenesis” (B.A. Arkhipov, A.V. Semenovich Russia). Despite the differences in methodologies used by American and Russian scholars, the most important idea is that the researchers and practitioners of both schools have common goal: to concentrate their efforts on developing social interaction skills in children with ASD, which helps them to better adjust in their lives and function in the social environment.


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