Insights from genetic studies of cerebral palsy

SA Lewis, S Shetty, BA Wilson, AJ Huang… - Frontiers in …, 2021 - frontiersin.org
Cohort-based whole exome and whole genome sequencing and copy number variant
(CNV) studies have identified genetic etiologies for a sizable proportion of patients with …

Molecular diagnostic yield of exome sequencing in patients with cerebral palsy

A Moreno-De-Luca, F Millan, DR Pesacreta… - Jama, 2021 - jamanetwork.com
Importance Cerebral palsy is a common neurodevelopmental disorder affecting movement
and posture that often co-occurs with other neurodevelopmental disorders. Individual cases …

Multi-organ dysfunction in cerebral palsy

J Allen, Z Zareen, S Doyle, L Whitla, Z Afzal… - Frontiers in …, 2021 - frontiersin.org
Cerebral Palsy (CP) describes a heterogenous group of non-progressive disorders of
posture or movement, causing activity limitation, due to a lesion in the developing brain. CP …

Iatrogenic vs. spontaneous preterm birth: a retrospective study of neonatal outcome among very preterm infants

X Chen, X Zhang, W Li, W Li, Y Wang, S Zhang… - Frontiers in …, 2021 - frontiersin.org
Objective: Preterm birth is a leading contributor to childhood morbidity and mortality, and the
incidence tends to increase and is higher in developing countries. The aim of this study was …

Variability in cerebral palsy diagnosis

BR Aravamuthan, D Fehlings, S Shetty, M Fahey… - …, 2021 - publications.aap.org
BACKGROUND: Cerebral palsy (CP) is the most common childhood motor disability. The
emergence of genetic CP etiologies, variable inclusion of hypotonic CP in international …

Genetic testing in individuals with cerebral palsy

HJ May, JA Fasheun, JM Bain… - … Medicine & Child …, 2021 - Wiley Online Library
AIM To determine which patients with cerebral palsy (CP) should undergo genetic testing,
we compared the rate of likely causative genetic variants from whole‐exome sequencing in …

The role of neuroimaging and genetic analysis in the diagnosis of children with cerebral palsy

V Horber, U Grasshoff, E Sellier, C Arnaud… - Frontiers in …, 2021 - frontiersin.org
Cerebral magnetic resonance imaging (MRI) is considered an important tool in the
assessment of a child with cerebral palsy (CP), as it is abnormal in more than 80% of …

[Retracted] Computer‐Aided Diagnosis of Children with Cerebral Palsy under Deep Learning Convolutional Neural Network Image Segmentation Model Combined …

R Yang, H Zuo, S Han, X Zhang… - Journal of Healthcare …, 2021 - Wiley Online Library
In this paper, we analyzed the application value and effect of deep learn‐based image
segmentation model of convolutional neural network (CNN) algorithm combined with 3D …

Genetic testing in various neurodevelopmental disorders which manifest as cerebral palsy: a case study from Iran

M Nejabat, S Inaloo, AT Sheshdeh… - Frontiers in …, 2021 - frontiersin.org
Purpose: Cerebral palsy (CP) is a heterogeneous permanent disorder impacting movement
and posture. Investigations aimed at diagnosing this disorder are expensive and time …

Expansion of the genotypic and phenotypic spectrum of wasf1-related neurodevelopmental disorder

S Srivastava, EL Macke, LC Swanson, D Coulter… - Brain Sciences, 2021 - mdpi.com
In humans, de novo truncating variants in WASF1 (Wiskott–Aldrich syndrome protein family
member 1) have been linked to presentations of moderate-to-profound intellectual disability …