Bilateral agenesis of arcuate fasciculus demonstrated by fiber tractography in congenital bilateral perisylvian syndrome

Kilinç, Özden; Ekinci, Gazanfer; Demirkol, Ezgi; Ağan, Kadriye

doi:10.1016/j.braindev.2014.05.003

Cited by 9 publications

(23 citation statements)

References 5 publications

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“…Relatively mild BPS symptoms are consistent with the absence of epilepsy (Yasuda et al, 2014) and perhaps relatively normal total white matter volume (Figure 2) despite likely dysgenesis of the arcuate fasciculus (Kilinc et al, 2015). Variable expressivity of characteristic BPS phenotypes is consistent with recent evidence that mosaic mutations of the PIK3R2 gene can occur in patients with bilateral polymicrogria and normal head size (Mirzaa et al, 2015).…”

mentioning

confidence: 82%

“…The T1-weighted MRI scan from this child demonstrated a highly unusual perisylvian sulcal/gyral patterning that is a defining feature of BPS (Figure 1). BPS cases exhibit bilateral dysgenesis of the Sylvian fissure and surrounding gyri, which appears to occur because of a limited or absent arcuate fasciculus (Kilinc et al, 2015). This BPS case also had a relatively enlarged atrium of the lateral ventricle that is consistent with the BPS anatomical presentation and reduction of parietal white matter (Graff-Radford et al, 1986; Kilinc et al, 2015; Toldo et al, 2011).…”

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confidence: 99%

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A case of Bilateral Perisylvian Syndrome with reading disability

Eckert

Berninger

Hoeft

et al. 2016

Cortex

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confidence: 82%

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confidence: 99%

A case of Bilateral Perisylvian Syndrome with reading disability

Eckert

Berninger

Hoeft

et al. 2016

Cortex

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“…Noise was observed in high frequency formants, voice onset time was prolonged in bilabial and alveolar stop consonants, and diadochokinetic rate was decreased. 47 Kim et al 45 reported an atypical pattern of articulation of lingual, dental, and alveolar consonants in their four participants. Jansen et al 18 reported that patients with asymmetric BPP which spared one of the insular opercula had milder dysarthria than those with symmetric presentations in which both insulae were involved.…”

Section: Review 1147mentioning

confidence: 92%

“…18,28,29,32 A negative correlation between Performance IQ and extent of BPP was also shown. 19,28,52 Semantic deficits were reported to be within the typical range by Boscariol et al 52 and impaired by Hage et al 19 and Kilinc et al 47 Three studies reported phonological awareness difficulties. Five studies did not formally assess language, however they reported a clinical impression that expressive language abilities were more severely impaired than receptive abilities.…”

Section: Language Phenotypementioning

confidence: 93%

“…Only one study quantified the features of dysarthria in four participants with facial diplegia, using acoustic analysis of pitch and timing. 47 A wide variation in the severity of articulation and phonology errors was reported across 11 articles. Noise was observed in high frequency formants, voice onset time was prolonged in bilabial and alveolar stop consonants, and diadochokinetic rate was decreased.…”

Section: Review 1147mentioning

confidence: 99%

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Speech and language in bilateral perisylvian polymicrogyria: a systematic review

Braden

Leventer

Jansen

et al. 2019

Develop Med Child Neuro

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BPPBilateral perisylvian polymicrogyria WDS Worster-Drought syndrome AIM We aimed to systematically review the speech production, language, and oral function phenotype of bilateral perisylvian polymicrogyria (BPP), and examine the correlation between the topography of polymicrogyria and the severity of speech, language, and oral functional impairment.METHOD A systematic search of MEDLINE, Embase, and PubMed databases was completed on 26th October 2017 using Medical Subject Heading terms synonymous with BPP and speech, language, or oral motor impairment. In total, 2411 papers were identified and 48 met inclusion criteria.RESULTS Expressive and receptive language impairment and oral structural and functional deficits are frequent in BPP. Expressive deficits are frequently more severe than receptive. Only one study used formal assessments to demonstrate the presence of speech disorder, namely dysarthria. Seven studies reported an association between diffuse BPP and more severe language impairment.INTERPRETATION Findings confirmed that language deficits are common in BPP, though assessment of the specific speech phenotype is limited. The paucity of high quality studies detailing the specific communication phenotype of BPP highlights the need for further investigation. Improving understanding of this phenotype will inform the development of targeted therapies and lead to better long-term outcomes.

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Speech‐language performance and comorbid disorders in children with perisylvian syndrome induced by viral encephalitis

Sun,

Zhao,

Zhang

et al. 2024

Pediatric Investigation

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ImportanceViral encephalitis is one of the main causes of the perisylvian syndrome, which can cause damage to children's language‐speech, feeding, and swallowing functions. Comprehensive assessment of language‐speech and swallowing function and comorbidity research on these children will help children's rehabilitation workers to better understand the disease and strengthen the systematic management of comorbid disorders.ObjectiveTo describe speech and language pathology and the occurrence of comorbid disorders in children with perisylvian syndrome induced by viral encephalitis.MethodsTwenty‐two children with acquired perisylvian syndrome were recruited in this study. Language and speech functions, including oral motor function, swallowing function, language ability, and dysarthria were assessed in these patients. Craniocerebral magnetic resonance imaging (MRI), electroencephalogram examination, and intelligence evaluation were performed to determine brain lesions and comorbid disorders.ResultsAll children exhibited different degrees of oral movement, dysphagia, and speech and language disorders. There was a significant difference between expressive and receptive language ability (P < 0.05). There were 10, 8, and 12 children who had an intellectual disability, limb disability, and epilepsy, respectively. In addition to the damage of the peri‐tegmental cortex found in MRI, thalamus lesions occurred in 19 cases and white matter involvement in six cases.InterpretationChildren with acquired perisylvian syndrome caused by viral encephalitis are characterized by persistent pseudobulbar dysfunction, speech and language impairment, and orofacial diplegia. They have a high probability of secondary epilepsy and are prone to motor and cognitive impairment, which need systematic management.

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Bilateral agenesis of arcuate fasciculus demonstrated by fiber tractography in congenital bilateral perisylvian syndrome

Cited by 9 publications

References 5 publications

A case of Bilateral Perisylvian Syndrome with reading disability

A case of Bilateral Perisylvian Syndrome with reading disability

Speech and language in bilateral perisylvian polymicrogyria: a systematic review

Speech‐language performance and comorbid disorders in children with perisylvian syndrome induced by viral encephalitis

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