Speech and language in bilateral perisylvian polymicrogyria: a systematic review

Braden, Ruth; Leventer, Richard J.; Jansen, Anna; Scheffer, Ingrid E.; Morgan, Angela

doi:10.1111/dmcn.14153

Cited by 10 publications

(3 citation statements)

References 64 publications

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“…The patients presented with additional heterogeneous neurologic symptoms classically seen in bilateral perisylvian PMG: oromotor dysfunction and speech abnormalities ranging from dysarthria to anarthria (4/4), pyramidal signs (3/4), hypotonia (3/4), postnatal microcephaly (1/4), and seizures (1/4). Although no formal neuropsychological assessment was performed, nonverbal cognitive abilities were perceived as normal for age, whereas a significant discrepancy was observed between impaired expressive language and intact receptive language, as expected in bilateral PMG (Braden, Leventer, Jansen, Scheffer, & Morgan, 2019). Three of the patients demonstrated a unique form of bilateral PMG: a thick cortex, with coarse irregular gyri most prominent in the perisylvian regions, and deep infolding, appearing to originate from the lateral surfaces (Figure 1a–l, Patients 1–3).…”

Section: Discussionmentioning

confidence: 92%

Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?

Andelman-Gur

Leventer

Hujirat

et al. 2020

American J of Med Genetics Pt A

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The clinical presentation of bilateral perisylvian polymicrogyria (PMG) is highly variable, including oromotor dysfunction, epilepsy, intellectual disability, and pyramidal signs. Extrapyramidal features are extremely rare. We present four apparently unrelated patients with a unique association of PMG with dystonia. The clinical, genetic, and radiologic features are described and possible mechanisms of dystonia are discussed. All patients were female and two were born to consanguineous families. All presented with early childhood onset dystonia. Other neurologic symptoms and signs classically seen in bilateral perisylvian PMG were observed, including oromotor dysfunction and speech abnormalities ranging from dysarthria to anarthria (4/4), pyramidal signs (3/4), hypotonia (3/4), postnatal microcephaly (1/4), and seizures (1/4). Neuroimaging showed a unique pattern of bilateral PMG with an infolded cortex originating primarily from the perisylvian region in three out of four patients. Whole exome sequencing was performed in two out of four patients and did not reveal pathogenic variants in known genes for cortical malformations or movement disorders. The dystonia seen in our patients is not described in bilateral PMG and suggests an underlying mechanism of impaired connectivity within the motor network or compromised cortical inhibition. The association of bilateral PMG with dystonia in our patients may represent a new neurogenetic disorder.

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Section: Discussionmentioning

confidence: 92%

Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?

Andelman-Gur

Leventer

Hujirat

et al. 2020

American J of Med Genetics Pt A

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“…This may be because methods to assess orofacial function are often based on observations. Braden et al ( 2019 ) found that despite bilateral perisylvian polymicrogyria being a well‐known cause of severe orofacial dysfunction, not 1 of the 48 studies they reviewed used formal assessment tools to accurately measure oral structural or functional deficits. In this study, a variety of methods were used to gain a comprehensive and objective description of the orofacial function.…”

Section: Methodological Considerationsmentioning

confidence: 99%

Children and adolescents with speech sound disorders are more likely to have orofacial dysfunction and malocclusion

Mogren

Sand

Havner

et al. 2022

Clinical & Exp Dental Res

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Background: Children with speech sound disorders (SSD) form a heterogeneous group that differs in terms of underlying cause and severity of speech difficulties.Orofacial dysfunction and malocclusions have been reported in children with SSD.However, the association is not fully explored.Objectives: Our aims were to describe differences in orofacial function and malocclusion between a group of children and adolescents with compared to without SSD and to explore associations between those parameters among the group with SSD.Methods: A total of 105 participants were included, 61 children with SSD (6.0-16.7 years, mean age 8.5 ± 2.8, 14 girls and 47 boys) and 44 children with typical speech development (TSD) (6.0-12.2 years, mean age 8.8 ± 1.6, 19 girls and 25 boys).Assessments of orofacial function included an orofacial screening test and assessment of bite force, jaw stability, chewing efficiency, and intraoral sensorymotor function. Possible malocclusions were also assessed.Result: Children with SSD had both poorer orofacial function and a greater prevalence of malocclusion than children with TSD. Furthermore, children with SSD and poorer orofacial function had a greater risk of malocclusion. Conclusion:Our result suggests that children with SSD are more prone to having poorer orofacial function and malocclusion than children with TSD. This illustrates the importance of assessing coexisting orofacial characteristics in children with SSD, especially since orofacial dysfunction may be linked to an increased risk of malocclusion. This result highlights the need for a multiprofessional approach.

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“…Hospital Ophir Loyola, Belém -PA. *E-mail: magdanerym@gmail.com2 Hospital Jean Bitar, Belém -PA 3. Universidade do Estado do Pará, Belém -PA.…”

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Polimicrogiria Bilateral Perisylviana: relato de caso

Mauro¹,

Costa

Campos³

et al. 2020

Acervo Saúde

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Objetivo: Relatar caso de Polimicrogiria Bilateral Perisylviana durante o período de acompanhamento ambulatorial, bem como sua evolução e os procedimentos diagnósticos e terapêuticos realizados. Detalhamento do caso: Paciente idoso com quadro de disartria desde a infância, prejuízo do aprendizado e convulsões tônico-clônicas generalizadas iniciadas aos 16 anos, associadas a alterações neurológicas demonstradas na ressonância nuclear magnética como polimicrogiria bilateral perisylviana, bem como atividade irritativa temporal ao eletroencefalograma. Encontra-se em acompanhamento no serviço ambulatorial de geriatria, sem crises convulsivas há uma década, em uso de anticonvulsivante oral e mantendo funcionalidade preservada. Considerações finais: A escassez de estudos sobre a polimicrogiria bilateral perisylviana traduz a necessidade de compreender mais a respeito dessa patologia. Déficits cognitivos, crises convulsivas e transtornos do desenvolvimento da linguagem são comumente encontrados nos quadros descritos. Nesse sentido, enfatiza-se a importância do diagnóstico precoce e do acompanhamento a longo prazo para a realização de tratamento de suporte adequado a esses cenários tão heterogêneos de uma mesma entidade etiopatológica.

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Speech and language in bilateral perisylvian polymicrogyria: a systematic review

Cited by 10 publications

References 64 publications

Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?

Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?

Children and adolescents with speech sound disorders are more likely to have orofacial dysfunction and malocclusion

Polimicrogiria Bilateral Perisylviana: relato de caso

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