Novel approaches to quantify CNS involvement in children with Pompe disease

Korlimarla, Aditi; Spiridigliozzi, Gail A.; Crisp, Kelly D.; Herbert, Mrudu; Chen, Steven; Malinzak, Michael; Ștefănescu, Mihaela; Austin, Stephanie; Cope, Heidi; Zimmerman, Kanecia O.; Jones, Hilary; Provenzale, James M.; Kishnani, Priya S.

doi:10.1212/wnl.0000000000009979

Cited by 15 publications

(23 citation statements)

References 32 publications

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“…Conventional magnetic resonance imaging (MRI) can identify some long-term changes of the central nervous tissue, such as morphologic local damage, brain atrophy, and alterations of WM [ 7 , 9 , 12 , 24 – 28 ]. The highest number of WM changes were seen in the cisplatin group, which is consistent with previous publications where medulloblastoma treatment exhibited a high risk of WM damage [ 7 , 9 , 21 ].…”

Section: Discussionmentioning

confidence: 99%

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Older age is a protective factor for academic achievements irrespective of treatment modalities for posterior fossa brain tumours in children

et al. 2020

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The treatment of children with posterior fossa brain tumours (PFBT) impacts their long term functional and imaging outcomes. This study aimed to evaluate academic achievement correlated with long-term sequelae after different PFBT treatment modalities. The study cohort consisted of 110 survivors (median age at diagnosis 10.1 years and median time of follow up 13.2 years) who completed hearing questionnaires, neurological assessment and MRI of the brain ≥5 years after the end of treatment. There were three treatment groups. A cisplatin group which underwent cisplatin chemotherapy, radiotherapy and surgery (medulloblastoma N = 40), a radiotherapy group which underwent radiotherapy and surgery (astrocytoma/ependymoma N = 30), and a surgery group (astrocytoma N = 40). Academic achievement was correlated to the age at diagnosis, ototoxicity, Karnofsky score (KS), and MRI findings (Fazekas Score (FS)- treatment related parenchymal changes). For a modelled age at diagnosis of five years, the cisplatin group had lower academic achievements compared to the radiotherapy (p = 0.028) and surgery (p = 0.014) groups. Academic achievements evaluated at a modelled age of 10 years at diagnosis did not significantly differ among the treatment groups. The cisplatin group exhibited a higher occurrence of ototoxicity than the radiotherapy (p<0.019) and surgery groups (p<0.001); however, there was no correlation between ototoxicity and academic achievements (p = 0.722) in older age at diagnosis. The radiotherapy group exhibited lower KS than the surgery group (p<0.001). KS significantly influenced academic achievements in all groups (p<0.000). The cisplatin group exhibited higher FS than the surgery group (p<0.001) while FS did not correlate with academic achievement (p = 0.399). Older age is a protective factor for academic achievements irrespective of a treatment modality.

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Section: Discussionmentioning

confidence: 99%

“…FS was categorized according to the treatment-related parenchymal changes (0 none/single lesion; 1 multiple punctate; 2 beginning confluence of lesions; 3 large confluent lesions). When employing FS, we used the following methodologies [ 12 , 13 ]. The MRI studies included FLAIR sequences (slice thickness 4–5 mm).…”

Section: Methodsmentioning

confidence: 99%

Older age is a protective factor for academic achievements irrespective of treatment modalities for posterior fossa brain tumours in children

et al. 2020

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“…Patients with infantile-onset Pompe disease (IOPD) are now living longer since the advent of intravenous (ERT) [ 6 ]. Brain autopsies of untreated infants showed widespread glycogen storage in the CNS [ 29 ], but this therapy is unlikely to cross the blood–brain barrier, thus increasing concerns about long term effects on CNS [ 29 , 30 ]. Ebbink and Spiridigliozzi [ 29 ] suggested that, in children with GSD2 treated with ERT, despite the strong evidence of glycogen storages in the brain, the impact on CNS seems to be limited.…”

Section: Introductionmentioning

confidence: 99%

Assessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents

D’Alessandro

Ragusa

Vacchetti

et al. 2021

JCM

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Central nervous system (CNS) involvement has been variously studied in pediatric neuromuscular disorders (NMDs). The primary goal of this study was to assess cognitive functioning in NMDs, and secondary aims were to investigate possible associations of cognitive impairment with motor impairment, neurodevelopmental delay, and genotype. This was a cross-sectional study of 43 pediatric patients, affected by six NMDs. Myotonic dystrophy type 1 (DM1) and glycogen storage disease type 2 (GSD2) patients had a delay on the Bayley-III scales. On Wechsler scales, DMD and DM1 patients showed lower FSIQ scores, with an intellectual disability (ID) in 27% and 50%, respectively. FSIQ was normal in Becker muscular dystrophy (BMD), GSD2, and hereditary motor sensory neuropathy (HMSN) patients, while higher individual scores were found in the spinal muscular atrophy (SMA) group. In the DM1 cohort, lower FSIQ correlated with worse motor performance (ρ = 0.84, p < 0.05), and delayed speech acquisition was associated with ID (p = 0.048), with worse cognitive impairment in the congenital than in the infantile form (p = 0.04). This study provides further evidence of CNS in some NMDs and reinforces the need to include cognitive assessment in protocols of care of selected pediatric NMDs.

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“…Recent investigations have identified disease impact in both the central and peripheral nervous systems of individuals with IOPD and LOPD [10][11][12][13][14][15]. Understanding clinical signs resulting from neurological and motor impairments, both individually and in combination with each other, are critical to refining our understanding of disease phenotype.…”

Section: Introductionmentioning

confidence: 99%

Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods

Crisp

Neel

Amarasekara

et al. 2021

JCM

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Bulbar and respiratory weakness occur commonly in children with Pompe disease and frequently lead to dysarthria. However, changes in vocal quality associated with this motor speech disorder are poorly described. The goal of this study was to characterize the vocal function of children with Pompe disease using auditory-perceptual and physiologic/acoustic methods. High-quality voice recordings were collected from 21 children with Pompe disease. The Grade, Roughness, Breathiness, Asthenia, and Strain (GRBAS) scale was used to assess voice quality and ratings were compared to physiologic/acoustic measurements collected during sustained phonation tasks, reading of a standard passage, and repetition of a short phrase at maximal volume. Based on ratings of grade, dysphonia was present in 90% of participants and was most commonly rated as mild or moderate in severity. Duration of sustained phonation tasks was reduced and shimmer was increased in comparison to published reference values for children without dysphonia. Specific measures of loudness were found to have statistically significant relationships with perceptual ratings of grade, breathiness, asthenia, and strain. Our data suggest that dysphonia is common in children with Pompe disease and primarily reflects impairments in respiratory and laryngeal function; however, the primary cause of dysphonia remains unclear. Future studies should seek to quantify the relative contribution of deficits in individual speech subsystems on voice quality and motor speech performance more broadly.

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Novel approaches to quantify CNS involvement in children with Pompe disease

Cited by 15 publications

References 32 publications

Older age is a protective factor for academic achievements irrespective of treatment modalities for posterior fossa brain tumours in children

Older age is a protective factor for academic achievements irrespective of treatment modalities for posterior fossa brain tumours in children

Assessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents

Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods

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