Epileptic Spasms in Patients With Down Syndrome: Experiences From Caregivers

2020 ◽  
Vol 35 (12) ◽  
pp. 813-819
Author(s):  
Daniel J. Kats ◽  
Vasiliki Patsiogiannis ◽  
Brian G. Skotko

Epileptic spasms are the most common type of seizure in infants with Down syndrome; however, the scope of current literature is largely limited to treatment options. We performed a chart review of patients seen at a Down syndrome specialty clinic to identify potential developmental sequelae of Down syndrome and epileptic spasms. We further interviewed parents of the children with Down syndrome and epileptic spasms to identify areas for improvement in counseling, diagnosis, and follow-up. Persistent developmental delays and autism spectrum disorder were highly prevalent in our patients. Caregivers attributed delays in treatment to insufficient counseling and awareness of epileptic spasms. They also identified inadequate emotional support after the diagnosis of the spasms. When counseling parents of infants with Down syndrome, pediatricians should educate about epileptic spasms. If spasms are diagnosed, providing emotional support with frequent follow-up is important. Furthermore, clinicians should monitor for signs of epilepsy and autism spectrum disorder.

Author(s):  
Virginia Carter Leno ◽  
Emily Simonoff

Recent evidence suggests that individuals with autism spectrum disorder (ASD) experience depression at rates approximately four times greater than the general population. Co-occurring mood problems, including depressive and bipolar disorders, are associated with negative outcomes such as lower quality of life, increased adaptive behavior impairments, and greater service use. This chapter discusses what is known about the presentation of unipolar and bipolar depression in people with ASD and describes challenges to establishing sound prevalence estimates of mood disorders in ASD as they relate to methodological design issues and diagnostic assessment practices. It also provides an overview of potential vulnerability factors in the development of depression in this population; these areas of vulnerability include characteristics such as chronological age, cognitive ability, and ASD symptom severity, as well as those individual differences that may represent more direct mechanisms, for example, maladaptive coping styles, attentional biases, social reward profiles, and predisposition to rumination. The current research on interventions specifically designed to treat mood in people with ASD is very limited. However, promising treatments include adapted cognitive behavioral therapy and mindfulness-based approaches. Though most of this chapter focuses on unipolar depression in ASD as the more well-studied mood disorder, the chapter also summarizes the small research base on bipolar disorder in the context of ASD. It ends with a call for improved screening, assessment, and evidence-based treatment options to address this significant public health problem in this special population.


2021 ◽  
Vol 11 (7) ◽  
pp. 828
Author(s):  
Maja Roch ◽  
Kate Cain ◽  
Christopher Jarrold

Reading for meaning is one of the most important activities in school and everyday life. The simple view of reading (SVR) has been used as a framework for studies of reading comprehension in individuals with Down syndrome (DS). These tend to show difficulties in reading comprehension despite better developed reading accuracy. Reading comprehension difficulties are influenced by poor oral language. These difficulties are common in individuals with DS and autism spectrum disorder (ASD), but they have never been compared directly. Moreover, the components of reading for comprehension have rarely been investigated in these populations: a better understanding of the nature of reading comprehension difficulties may inform both theory and practice. The aim of this study was to determine whether reading comprehension in the two populations is accounted for by the same component skills and to what extent the reading profile of the two atypical groups differs from that of typically developing children (TD). Fifteen individuals with DS (mean age = 22 years 4 months, SD = 5 years 2 months), 21 with ASD (mean age = 13 years 2 months, SD = 1 year 6 months), and 42 TD children (mean age = 8 years 1 month, SD = 7 months) participated and were assessed on measures of receptive vocabulary, text reading and listening comprehension, oral language comprehension, and reading accuracy. The results showed similar levels in word reading accuracy and in receptive vocabulary in all three groups. By contrast, individuals with DS and ASD showed poorer non-word reading and reading accuracy in context than TD children. Both atypical groups showed poorer listening and reading text comprehension compared to TD children. Reading for comprehension, investigated through a homograph reading accuracy task, showed a different pattern for individuals with DS with respect to the other two groups: they were less sensitive to meaning while reading. According to the SVR, the current results confirm that the two atypical groups have similar profiles that overlap with that of poor comprehenders in which poor oral language comprehension constrains reading for comprehension.


Autism ◽  
2021 ◽  
pp. 136236132110240
Author(s):  
Jung-Chi Chang ◽  
Meng-Chuan Lai ◽  
Yueh-Ming Tai ◽  
Susan Shur-Fen Gau

Cross-sectional research has demonstrated the overrepresentation of gender dysphoria in children and adults with autism spectrum disorder. However, the predictors and underlying mechanisms of this co-occurrence remain unclear. This follow-up study aimed to explore baseline (childhood/adolescence) predictors for the follow-up (adulthood) self-reported wish to be of the opposite sex and to investigate its mental health correlates in a sample of 88 autistic individuals as compared with 42 typically developing controls. An item on the Adult Self-Report Inventory-4, “I wish I was the opposite sex,” was used. We compared mental health symptoms between adults with and without this item endorsement. We used prediction models to explore family and autism-related predictors in childhood/adolescence to endorse this item in adulthood. There were more adults endorsing the item in the autism spectrum disorder group compared with the typically developing group. Autistic adults who endorsed the item experienced more mental health challenges, more bullying victimization, more suicidal ideations, and worse quality of life. Lower parent-reported family support and more stereotyped/repetitive behaviors during childhood/adolescence predicted the self-reported wish to be of the opposite sex in adulthood in autistic individuals. It is necessary to raise more attention to gender development and related mental health impact in autistic individuals. Lay abstract Autistic people/people with autism spectrum disorder are more likely to experience gender dysphoria. However, the possible longitudinal predictors and underlying mechanisms of this co-occurrence are unclear. To fill this knowledge gap, we assessed 88 people with autism spectrum disorder and 42 typically developing individuals at their average ages of 13.0 (baseline, childhood/adolescence) and 20.2 years old (follow-up, adulthood). At follow-up, their endorsement on the item “I wish I was the opposite sex” was used to evaluate gender dysphoric symptoms. We compared mental health symptoms between adults with and without this item endorsement at the follow-up assessment. We explored parent-reported family and autism characteristics-related predictors in childhood/adolescence to this item endorsement in adulthood. We found that more autistic adults reported the wish to be of the opposite sex than did typically developing individuals. Autistic adults who endorsed this item experienced more mental health challenges, more school bullying and cyberbullying, more suicidal ideation, and worse quality of life. Moreover, parent-reported lower family support and more stereotyped/repetitive behaviors during childhood/adolescence predicted the self-reported wish to be of the opposite sex in adulthood in autistic individuals. More attention and support should be provided to autistic people regarding gender development and related mental health and quality of life impact, especially during the transition period to young adulthood.


Author(s):  
Kathryn R. Bradbury ◽  
Emily I. Anderberg ◽  
Lark Huang-Storms ◽  
Iulia Vasile ◽  
Rachel K. Greene ◽  
...  

Author(s):  
Silvana B. Napoli ◽  
María Paula Vitale ◽  
Pablo J. Cafiero ◽  
María Belén Micheletti ◽  
Paula Pedernera Bradichansky ◽  
...  

Background: Autism spectrum disorder (ASD) affects the daily functioning of children and their families; however, in Argentina, there are no standardized tools to guide the description, evaluation, and follow-up of functioning and disability of children with ASD. To fill this gap, the overarching purpose of this study was to create a novel tool guided by the International Classification of Functioning, Disability, and Health (ICF) Core Sets for ASD for clinical practice. Methods: A multistep methodology was used to identify the most relevant ICF categories for an Argentinian clinical setting. The content of this ICF-based shortlist was piloted and revised according to the results. Subsequently, a toolbox of measures was proposed to operationalize each ICF category. Finally, profiles of the functioning of 100 children with ASD were created. Results: An ICF-based tool called TEA-CIFunciona was created, consisting of 32 ICF categories (10 body functions, 15 activities and participation, 7 environmental factors categories). The application of TEA-CIFunciona incorporated a family-centered approach in ASD evaluations and helped identify functional needs. Conclusions: TEA-CIFunciona is the first ICF-based instrument that guides the description of functioning of children with ASD in Argentina. TEA-CIFunciona standardizes collaborative assessments in pediatric ASD populations in Latin American contexts.


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