Autistic features in Unverricht–Lundborg disease

Tandon, Ravi; Pradhan, Sunil

doi:10.1016/j.ebr.2019.100323

Cited by 4 publications

(4 citation statements)

References 10 publications

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“…The CSTB protein most likely protects against leakage of proteases from lysosomes (Turk & Bode, 1991). The autosomal recessive disorder Unverricht-Lundborg disease, characterized by progressive myoclonic epilepsy in conjunction with autistic features, is caused by mutations in CSTB (Tandon & Pradhan, 2019).…”

Section: Discussionmentioning

confidence: 99%

Cerebrospinal fluid and serum protein markers in autism: A co‐twin study

Smedler

Kleppe

Neufeld

et al. 2021

Journal of Neurochemistry

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No robust biomarkers have yet been identified for autism spectrum disorder (ASD) or autistic traits. Familial factors likely influence biomarkers such as protein concentrations. Comparing twins with ASD or high autistic traits to the less affected co‐twin allows estimating the impact of familial confounding. We measured 203 proteins in cerebrospinal fluid (n = 86) and serum (n = 127) in twins (mean age 14.2 years, 44.9% females) enriched for ASD and other neurodevelopmental conditions. Autistic traits were assessed by using the parent‐report version of the Social Responsiveness Scale‐2. In cerebrospinal fluid, autistic traits correlated negatively with three proteins and positively with one. In serum, autistic traits correlated positively with 15 and negatively with one. Also in serum, six were positively—and one negatively—associated with ASD. A pathway analysis of these proteins revealed immune system enrichment. In within twin pair analyses, autistic traits were associated with serum B‐cell activating factor (BAFF) only, whereas Cystatin B (CSTB) remained significantly associated with ASD. These associations did not remain significant when only considering monozygotic twins. For the remainder, the within‐pair analysis indicated familial confounding, including shared environment and genes, influencing both autism and protein levels. Our findings indicate proteins involved in immunity as putative biomarkers of autistic traits and ASD with partial genetic confounding. Although some results are in line with previous studies in general, further studies are needed for replication.

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Section: Discussionmentioning

confidence: 99%

Cerebrospinal fluid and serum protein markers in autism: A co‐twin study

Smedler

Kleppe

Neufeld

et al. 2021

Journal of Neurochemistry

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“…In language learning, autistic children with social interaction disorders used direct-literal imperative, short, and without an eye-contact strategy. They likely lacked the motivation to talk (Tandon, Pradhan, 2019). In language learning, however, there were not any exclamations, and emphatic strategies use, for the autistic children with social interaction disorders were generally unable to express feelings, such as surprise or admiration upon something (Noiprawat, Sahachaiseri, 2010).…”

Section: Discussionmentioning

confidence: 99%

Exploring illocutionary acts employed by autistic children: The case of Indonesian children

Prasetyoningsih¹,

Suhartoyo²,

Ubaidillah³

2020

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This study documented illocutionary acts employed by Indonesian children who had autism spectrum disorder (ASD). Twelve children were recruited using a convenience sampling technique. The data were gathered through in-depth observation and clinical intervention settings. These data were then analyzed qualitatively. The findings of this study portrayed that the participants employed three illocutionary acts in their communication. They employed directive (D), expressive (E), assertive, and speech acts (A) or DEA. Interestingly, the participants did not produce commissive and declarative utterances. Instead, they used declaration (D), interrogative (I), and imperative (I) speech acts. Based on the findings, it can be asserted that in terms of communication skills, the participants generally deployed simple directive, assertive, and expressive (DEA) speech acts with a direct literal speech act strategy. This study also suggested that in language learning and clinical intervention, teachers or therapists should consider the individual condition and understand the autistic children's illocutionary speech acts.

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“…Their executive function and psychomotor speed were also impaired compared to controls, although the authors acknowledged that the timed tests may have been impacted by the severity of the myoclonus. As regards the possibility of an association between ULD and autism, there is a single case report of several patients at a single center who presented with features of autism [33]. However, it should be noted that these children did not undergo genetic testing to confirm the ULD, so this association remains unclear.…”

Section: Diagnostic and Phenotypic Advancesmentioning

confidence: 99%

Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances

Zimmern,

Minassian

2024

Genes

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The progressive myoclonus epilepsies (PME) are a diverse group of disorders that feature both myoclonus and seizures that worsen gradually over a variable timeframe. While each of the disorders is individually rare, they collectively make up a non-trivial portion of the complex epilepsy and myoclonus cases that are seen in tertiary care centers. The last decade has seen substantial progress in our understanding of the pathophysiology, diagnosis, prognosis, and, in select disorders, therapies of these diseases. In this scoping review, we examine English language publications from the past decade that address diagnostic, phenotypic, and therapeutic advances in all PMEs. We then highlight the major lessons that have been learned and point out avenues for future investigation that seem promising.

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Autistic features in Unverricht–Lundborg disease

Cited by 4 publications

References 10 publications

Cerebrospinal fluid and serum protein markers in autism: A co‐twin study

Cerebrospinal fluid and serum protein markers in autism: A co‐twin study

Exploring illocutionary acts employed by autistic children: The case of Indonesian children

Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances

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