Intellectual disability in paediatric patients with genetic muscle diseases

Specht, Sabine; Straub, Volker

doi:10.1016/j.nmd.2021.08.012

Cited by 4 publications

(6 citation statements)

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“…The neurological involvement in severe forms of dystroglycanopathy can include brain malformations that manifest as type II lissencephaly or focal pachygyria/polymicrogyria, midbrain/pontine/cerebellar hypoplasia, hydrocephalus, white matter abnormalities, and retinal dysplasia 50,51 . The majority of patients with abnormal MRI findings have moderate‐to‐severe intellectual disability, 52,53 and epilepsy is seen in roughly 30% of patients with detectable brain malformations 54 . Intellectual disability is also frequently observed in dystroglycanopathy patients with normal MRI, potentially highlighting an important role for Dag1 beyond regulating early structural development of the brain 55 …”

Section: Disease Phenotypesmentioning

confidence: 99%

“…50,51 The majority of patients with abnormal MRI findings have moderate-to-severe intellectual disability, 52,53 and epilepsy is seen in roughly 30% of patients with detectable brain malformations. 54 Intellectual disability is also frequently observed in dystroglycanopathy patients with normal MRI, potentially highlighting an important role for Dag1 beyond regulating early structural development of the brain. 55…”

Section: Disease Phenotypesmentioning

confidence: 99%

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The many roles of dystroglycan in nervous system development and function

Jahncke

Wright

2022

Developmental Dynamics

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The glycoprotein dystroglycan was first identified in muscle, where it functions as part of the dystrophin glycoprotein complex to connect the extracellular matrix to the actin cytoskeleton. Mutations in genes involved in the glycosylation of dystroglycan cause a form of congenital muscular dystrophy termed dystroglycanopathy. In addition to its well-defined role in regulating muscle integrity, dystroglycan is essential for proper central and peripheral nervous system development. Patients with dystroglycanopathy can present with a wide range of neurological perturbations, but unraveling the complex role of Dag1 in the nervous system has proven to be a challenge. Over the past two decades, animal models of dystroglycanopathy have been an invaluable resource that has allowed researchers to elucidate dystroglycan's many roles in neural circuit development. In this review, we summarize the pathways involved in dystroglycan's glycosylation and its known interacting proteins, and discuss how it regulates neuronal migration, axon guidance, synapse formation, and its role in non-neuronal cells.

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Section: Disease Phenotypesmentioning

confidence: 99%

Section: Disease Phenotypesmentioning

confidence: 99%

The many roles of dystroglycan in nervous system development and function

Jahncke

Wright

2022

Developmental Dynamics

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“…Regardless of children’s motor development, neuroimaging studies have identified gray and white matter anomalies in cortical and subcortical areas. However, these anomalies are widespread and dependent on the genes involved in each MD subtype ( Angelini and Pinzan, 2019 ; Specht and Straub, 2021 ). Current research is increasingly focused on the manifestations of the central nervous system (CNS) ( Paganoni et al, 2017 ; D’Alessandro et al, 2021 ; Specht and Straub, 2021 ), particularly on associated cognitive, behavioral, and psychiatric symptoms ( Darke et al, 2006 ; Caspers Conway et al, 2015 ; Lee et al, 2022 ).…”

Section: Introductionmentioning

confidence: 99%

“…However, these anomalies are widespread and dependent on the genes involved in each MD subtype ( Angelini and Pinzan, 2019 ; Specht and Straub, 2021 ). Current research is increasingly focused on the manifestations of the central nervous system (CNS) ( Paganoni et al, 2017 ; D’Alessandro et al, 2021 ; Specht and Straub, 2021 ), particularly on associated cognitive, behavioral, and psychiatric symptoms ( Darke et al, 2006 ; Caspers Conway et al, 2015 ; Lee et al, 2022 ). Due to the higher prevalence of DMD, most of the literature has focused on characterizing its neuropsychological profile ( Perumal et al, 2015 ; Battini et al, 2018 ).…”

Section: Introductionmentioning

confidence: 99%

“…Due to the higher prevalence of DMD, most of the literature has focused on characterizing its neuropsychological profile ( Perumal et al, 2015 ; Battini et al, 2018 ). Intellectual disability is a common feature in pediatric MD diagnoses ( Tesei et al, 2020 ; Mohamadian et al, 2022 ), resulting in behavioral and psychosocial problems ( Panda and Sharawat, 2021 ; Specht and Straub, 2021 ). A higher risk of co-occurrence of neurodevelopmental and psychiatric conditions in children and youth with MDs has also been reported compared with the general population ( Mohamadian et al, 2022 ).…”

Section: Introductionmentioning

confidence: 99%

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Difficulties in social cognitive functioning among pediatric patients with muscular dystrophies

García,

Martínez,

López-Paz

et al. 2024

Front. Psychol.

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IntroductionPediatric muscular dystrophies (MDs) are a heterogeneous group of rare neuromuscular diseases characterized by progressive muscle degeneration. A neuropsychosocial approach is crucial for these patients due to associated cognitive, behavioral, and psychiatric comorbidities; however, the social cognitive domain has not been adequately addressed.MethodsThis study aimed to analyze on social cognition performance in a pediatric MD patient cohort. This cross-sectional study included 32 pediatric patients with MD and 32 matched-healthy controls. The Social Perception Domain of the NEPSY-II, the Reading the Mind in the Eyes Test–Child and Happé’s Strange Stories Test were administered. General intelligence and behavioral and emotional symptoms were controlled for to eliminate covariables’ possible influence. The assessments were performed remotely.ResultsChildren with MDs performed significantly worse on most of the social cognition tasks. The differences found between the groups could be explained by the level of general intelligence for some aspects more related to theory of mind (ToM) (TM NEPSY-II: F = 1.703, p = .197; Verbal task: F = 2.411, p = .125; RMET-C: F = 2.899, p = .094), but not for emotion recognition. Furthermore, these differences were also independent of behavioral and emotional symptoms.DiscussionIn conclusion, social cognition is apparently impaired in pediatric patients with MD, both for emotion recognition and ToM. Screening assessment in social cognition should be considered to promote early interventions aimed at improving these patient’s quality of life.

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