Monogenic variants in dystonia: an exome-wide sequencing study

M Zech, R Jech, S Boesch, M Škorvánek… - The Lancet …, 2020 - thelancet.com
Background Dystonia is a clinically and genetically heterogeneous condition that occurs in
isolation (isolated dystonia), in combination with other movement disorders (combined …

Birth asphyxia is associated with increased risk of cerebral palsy: a meta-analysis

S Zhang, B Li, X Zhang, C Zhu, X Wang - Frontiers in Neurology, 2020 - frontiersin.org
Objective: To assess the association between birth asphyxia—as defined by the pH of
umbilical cord blood—and cerebral palsy in asphyxiated neonates≥ 35 weeks' gestation …

Definition and diagnosis of cerebral palsy in genetic studies: a systematic review

R Pham, BW Mol, J Gecz… - … Medicine & Child …, 2020 - Wiley Online Library
Aim To conduct a systematic review of phenotypic definition and case ascertainment in
published genetic studies of cerebral palsy (CP) to inform guidelines for the reporting of …

From congenial paralysis to post-early brain injury developmental condition: Where does cerebral palsy actually stand?

S Chabrier, M Pouyfaucon, A Chatelin… - Annals of physical and …, 2020 - Elsevier
Cerebral palsy (CP), an umbrella term for a developmental motor disorder caused by early
brain injury (EBI)/interference, remains debated. In this essay, we present a narrative …

Losing a diagnosis of cerebral palsy: a comparison of variables at 2 and 5 years

A Chen, S Dyck Holzinger, M Oskoui… - … Medicine & Child …, 2020 - Wiley Online Library
Aim This study aims to identify characteristics at 2 years of age that differ between children
with confirmed cerebral palsy (CP) and a non‐CP diagnosis by 5 years of age. Method This …

Congenital Zika Syndrome—Assessing the need for a family support programme in Brazil

A Duttine, T Smythe, M Ribiero Calheiro de Sá… - International journal of …, 2020 - mdpi.com
The Zika outbreak in Brazil caused congenital impairments and developmental delays, or
Congenital Zika Syndrome (CZS). We sought to ascertain whether a family support …

Umbilical cord blood stem cell therapy in premature brain injury: Opportunities and challenges

X Peng, J Song, B Li, C Zhu… - Journal of Neuroscience …, 2020 - Wiley Online Library
Preterm birth and associated brain injury are the primary cause of cerebral palsy and
developmental disabilities and are among the most serious global health issues that modern …

Role of child neurologists and neurodevelopmentalists in the diagnosis of cerebral palsy: a survey study

BR Aravamuthan, M Shevell, YM Kim, JL Wilson… - Neurology, 2020 - AAN Enterprises
Objective To contextualize the role of child neurologists and neurodevelopmentalists
(CNs/NDDs) in cerebral palsy (CP) care, we review the changing landscape of CP diagnosis …

A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland

E Gunne, C McGarvey, K Hamilton, E Treacy… - Orphanet Journal of …, 2020 - Springer
Aims To ascertain the number of paediatric deaths (0–14 years) with an underlying rare
disease in the Republic of Ireland between the years 2006–2016, and to analyse bed usage …

Congenital malformations in children with cerebral palsy: is prematurity protective?

M Sévère, P Ng, C Messerlian, J Andersen… - Pediatric Neurology, 2020 - Elsevier
Background Congenital malformations are more common in children who are born
prematurely, and prematurity is the leading risk factor for cerebral palsy. The primary …