Prevalence, Clinical Features, Neuroimaging, and Genetic Findings in Children With Ataxic Cerebral Palsy in Europe

Veronka Horber; Guro L. Andersen; Catherine Arnaud; Javier De La Cruz; Ivana Dakovic; Andra Greitane; Owen Hensey; Kate Himmelmann; Katalin Hollody; Karen Horridge; Christoph T. Künzle; Marco Marcelli; Els Ortibus; Antigone Papavasiliou; Oliver Perra; Mary J. Platt; Gija Rackauskaite; Solveig Sigurdardottir; Anja Troha Gergeli; Daniel Virella; Ingeborg Krägeloh-Mann; Elodie Sellier

doi:10.1212/WNL.0000000000207851

Prevalence, Clinical Features, Neuroimaging, and Genetic Findings in Children With Ataxic Cerebral Palsy in Europe

Veronka Horber^*, Guro L. Andersen, Catherine Arnaud, Javier De La Cruz, Ivana Dakovic, Andra Greitane, Owen Hensey, Kate Himmelmann, Katalin Hollody, Karen Horridge, Christoph T. Künzle, Marco Marcelli, Els Ortibus, Antigone Papavasiliou, Oliver Perra, Mary J. Platt, Gija Rackauskaite, Solveig Sigurdardottir, Anja Troha Gergeli, Daniel VirellaIngeborg Krägeloh-Mann, Elodie Sellier

^*Corresponding author for this work

Department of Clinical Medicine - Department of Paediatrics

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

3 Citations (Scopus)

Abstract

Background and ObjectivesTo report on prevalence, associated impairments, severity, and neuroimaging findings in children with ataxic cerebral palsy (CP).MethodsIn children coded as having ataxic CP in the Central database of Joint Research Center-Surveillance of Cerebral Palsy in Europe (JRC-SCPE) and born during 1980-2010, birth characteristics, severity profiles including associated impairments, neuroimaging patterns, and the presence of syndromes were analyzed. Definitions were according to validated SCPE guidelines. Prevalence over time was estimated using Poisson regression.ResultsIn total, 679 children with ataxic CP were identified in 20 European CP registers. The proportion with ataxic CP was 3.8% and varied from 0% to 12.9%. Prevalence over time showed no significant trend. Approximately 70% of children with ataxic CP were able to walk, and 40% had severe intellectual impairment and a high impairment index. Children with ataxic CP were mostly born at term (79%) and with normal birth weight (77%). Neuroimaging patterns revealed normal findings in 29%, brain maldevelopments in 28.5%, miscellaneous findings in 23.5%, and brain injuries in 19%, according to the SCPE classification. Genetic syndromes were described in 9%.DiscussionThis register-based multicenter study on children with ataxic CP provides a large sample size for the analysis of prevalence, severity, and origin of this rare CP subtype. Even with strict inclusion and classification criteria, there is variation between registers on how to deal with this subtype, and diagnosis of ataxic CP remains a challenge. Ataxic cerebral palsy differs from other CP subtypes: children with ataxic CP have a disability profile that is more pronounced in terms of cognitive than gross motor dysfunction. They are mostly term born and the origin rarely suggests acquired injuries. In addition to neuroimaging, a comprehensive genetic workup is particularly recommended for children with this CP type.

Original language	English
Journal	Neurology
Volume	101
Issue	24
Pages (from-to)	E2509-E2521
Number of pages	13
ISSN	0028-3878
DOIs	https://doi.org/10.1212/WNL.0000000000207851
Publication status	Published - Dec 2023

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10.1212/WNL.0000000000207851

https://pmc.ncbi.nlm.nih.gov/articles/PMC10791054/pdf/WNL-2023-001633.pdf

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Horber, V., Andersen, G. L., Arnaud, C., De La Cruz, J., Dakovic, I., Greitane, A., Hensey, O., Himmelmann, K., Hollody, K., Horridge, K., Künzle, C. T., Marcelli, M., Ortibus, E., Papavasiliou, A., Perra, O., Platt, M. J., Rackauskaite, G., Sigurdardottir, S., Troha Gergeli, A., ... Sellier, E. (2023). Prevalence, Clinical Features, Neuroimaging, and Genetic Findings in Children With Ataxic Cerebral Palsy in Europe. Neurology, 101(24), E2509-E2521. https://doi.org/10.1212/WNL.0000000000207851

@article{6c4095885ef048d3afd1d25aa85dc5da,

title = "Prevalence, Clinical Features, Neuroimaging, and Genetic Findings in Children With Ataxic Cerebral Palsy in Europe",

abstract = "Background and ObjectivesTo report on prevalence, associated impairments, severity, and neuroimaging findings in children with ataxic cerebral palsy (CP).MethodsIn children coded as having ataxic CP in the Central database of Joint Research Center-Surveillance of Cerebral Palsy in Europe (JRC-SCPE) and born during 1980-2010, birth characteristics, severity profiles including associated impairments, neuroimaging patterns, and the presence of syndromes were analyzed. Definitions were according to validated SCPE guidelines. Prevalence over time was estimated using Poisson regression.ResultsIn total, 679 children with ataxic CP were identified in 20 European CP registers. The proportion with ataxic CP was 3.8% and varied from 0% to 12.9%. Prevalence over time showed no significant trend. Approximately 70% of children with ataxic CP were able to walk, and 40% had severe intellectual impairment and a high impairment index. Children with ataxic CP were mostly born at term (79%) and with normal birth weight (77%). Neuroimaging patterns revealed normal findings in 29%, brain maldevelopments in 28.5%, miscellaneous findings in 23.5%, and brain injuries in 19%, according to the SCPE classification. Genetic syndromes were described in 9%.DiscussionThis register-based multicenter study on children with ataxic CP provides a large sample size for the analysis of prevalence, severity, and origin of this rare CP subtype. Even with strict inclusion and classification criteria, there is variation between registers on how to deal with this subtype, and diagnosis of ataxic CP remains a challenge. Ataxic cerebral palsy differs from other CP subtypes: children with ataxic CP have a disability profile that is more pronounced in terms of cognitive than gross motor dysfunction. They are mostly term born and the origin rarely suggests acquired injuries. In addition to neuroimaging, a comprehensive genetic workup is particularly recommended for children with this CP type.",

author = "Veronka Horber and Andersen, {Guro L.} and Catherine Arnaud and {De La Cruz}, Javier and Ivana Dakovic and Andra Greitane and Owen Hensey and Kate Himmelmann and Katalin Hollody and Karen Horridge and K{\"u}nzle, {Christoph T.} and Marco Marcelli and Els Ortibus and Antigone Papavasiliou and Oliver Perra and Platt, {Mary J.} and Gija Rackauskaite and Solveig Sigurdardottir and {Troha Gergeli}, Anja and Daniel Virella and Ingeborg Kr{\"a}geloh-Mann and Elodie Sellier",

year = "2023",

month = dec,

doi = "10.1212/WNL.0000000000207851",

language = "English",

volume = "101",

pages = "E2509--E2521",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "24",

}

Horber, V, Andersen, GL, Arnaud, C, De La Cruz, J, Dakovic, I, Greitane, A, Hensey, O, Himmelmann, K, Hollody, K, Horridge, K, Künzle, CT, Marcelli, M, Ortibus, E, Papavasiliou, A, Perra, O, Platt, MJ, Rackauskaite, G, Sigurdardottir, S, Troha Gergeli, A, Virella, D, Krägeloh-Mann, I & Sellier, E 2023, 'Prevalence, Clinical Features, Neuroimaging, and Genetic Findings in Children With Ataxic Cerebral Palsy in Europe', Neurology, vol. 101, no. 24, pp. E2509-E2521. https://doi.org/10.1212/WNL.0000000000207851

Prevalence, Clinical Features, Neuroimaging, and Genetic Findings in Children With Ataxic Cerebral Palsy in Europe. / Horber, Veronka; Andersen, Guro L.; Arnaud, Catherine et al.
In: Neurology, Vol. 101, No. 24, 12.2023, p. E2509-E2521.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

TY - JOUR

T1 - Prevalence, Clinical Features, Neuroimaging, and Genetic Findings in Children With Ataxic Cerebral Palsy in Europe

AU - Horber, Veronka

AU - Andersen, Guro L.

AU - Arnaud, Catherine

AU - De La Cruz, Javier

AU - Dakovic, Ivana

AU - Greitane, Andra

AU - Hensey, Owen

AU - Himmelmann, Kate

AU - Hollody, Katalin

AU - Horridge, Karen

AU - Künzle, Christoph T.

AU - Marcelli, Marco

AU - Ortibus, Els

AU - Papavasiliou, Antigone

AU - Perra, Oliver

AU - Platt, Mary J.

AU - Rackauskaite, Gija

AU - Sigurdardottir, Solveig

AU - Troha Gergeli, Anja

AU - Virella, Daniel

AU - Krägeloh-Mann, Ingeborg

AU - Sellier, Elodie

PY - 2023/12

Y1 - 2023/12

N2 - Background and ObjectivesTo report on prevalence, associated impairments, severity, and neuroimaging findings in children with ataxic cerebral palsy (CP).MethodsIn children coded as having ataxic CP in the Central database of Joint Research Center-Surveillance of Cerebral Palsy in Europe (JRC-SCPE) and born during 1980-2010, birth characteristics, severity profiles including associated impairments, neuroimaging patterns, and the presence of syndromes were analyzed. Definitions were according to validated SCPE guidelines. Prevalence over time was estimated using Poisson regression.ResultsIn total, 679 children with ataxic CP were identified in 20 European CP registers. The proportion with ataxic CP was 3.8% and varied from 0% to 12.9%. Prevalence over time showed no significant trend. Approximately 70% of children with ataxic CP were able to walk, and 40% had severe intellectual impairment and a high impairment index. Children with ataxic CP were mostly born at term (79%) and with normal birth weight (77%). Neuroimaging patterns revealed normal findings in 29%, brain maldevelopments in 28.5%, miscellaneous findings in 23.5%, and brain injuries in 19%, according to the SCPE classification. Genetic syndromes were described in 9%.DiscussionThis register-based multicenter study on children with ataxic CP provides a large sample size for the analysis of prevalence, severity, and origin of this rare CP subtype. Even with strict inclusion and classification criteria, there is variation between registers on how to deal with this subtype, and diagnosis of ataxic CP remains a challenge. Ataxic cerebral palsy differs from other CP subtypes: children with ataxic CP have a disability profile that is more pronounced in terms of cognitive than gross motor dysfunction. They are mostly term born and the origin rarely suggests acquired injuries. In addition to neuroimaging, a comprehensive genetic workup is particularly recommended for children with this CP type.

AB - Background and ObjectivesTo report on prevalence, associated impairments, severity, and neuroimaging findings in children with ataxic cerebral palsy (CP).MethodsIn children coded as having ataxic CP in the Central database of Joint Research Center-Surveillance of Cerebral Palsy in Europe (JRC-SCPE) and born during 1980-2010, birth characteristics, severity profiles including associated impairments, neuroimaging patterns, and the presence of syndromes were analyzed. Definitions were according to validated SCPE guidelines. Prevalence over time was estimated using Poisson regression.ResultsIn total, 679 children with ataxic CP were identified in 20 European CP registers. The proportion with ataxic CP was 3.8% and varied from 0% to 12.9%. Prevalence over time showed no significant trend. Approximately 70% of children with ataxic CP were able to walk, and 40% had severe intellectual impairment and a high impairment index. Children with ataxic CP were mostly born at term (79%) and with normal birth weight (77%). Neuroimaging patterns revealed normal findings in 29%, brain maldevelopments in 28.5%, miscellaneous findings in 23.5%, and brain injuries in 19%, according to the SCPE classification. Genetic syndromes were described in 9%.DiscussionThis register-based multicenter study on children with ataxic CP provides a large sample size for the analysis of prevalence, severity, and origin of this rare CP subtype. Even with strict inclusion and classification criteria, there is variation between registers on how to deal with this subtype, and diagnosis of ataxic CP remains a challenge. Ataxic cerebral palsy differs from other CP subtypes: children with ataxic CP have a disability profile that is more pronounced in terms of cognitive than gross motor dysfunction. They are mostly term born and the origin rarely suggests acquired injuries. In addition to neuroimaging, a comprehensive genetic workup is particularly recommended for children with this CP type.

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U2 - 10.1212/WNL.0000000000207851

DO - 10.1212/WNL.0000000000207851

M3 - Journal article

C2 - 37857495

AN - SCOPUS:85180007081

SN - 0028-3878

VL - 101

SP - E2509-E2521

JO - Neurology

JF - Neurology

IS - 24

ER -

Prevalence, Clinical Features, Neuroimaging, and Genetic Findings in Children With Ataxic Cerebral Palsy in Europe

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