Developmental disabilities among children younger than 5 years in 195 countries and territories, 1990–2016: a systematic analysis for the Global Burden of Disease Study 2016

The Lancet Global Health, Journal Year: 2018, Volume and Issue: 6(10), P. e1100 - e1121

Published: Aug. 29, 2018

BackgroundThe Sustainable Development Goals (SDGs) mandate systematic monitoring of the health and wellbeing all children to achieve optimal early childhood development. However, global epidemiological data on with developmental disabilities are scarce. The Global Burden Diseases, Injuries, Risk Factors Study 2016 provides a comprehensive assessment prevalence years lived disability (YLDs) for development among younger than 5 in 195 countries territories from 1990 2016.MethodsWe estimated YLDs epilepsy, intellectual disability, hearing loss, vision autism spectrum disorder, attention deficit hyperactivity disorder. were as product estimate weight each mutually exclusive corrected comorbidity. We used DisMod-MR 2.1, Bayesian meta-regression tool, pool primary derived reviews literature, surveys, hospital claims databases, cohort studies, disease-specific registries.FindingsGlobally, 52·9 million (95% uncertainty interval [UI] 48·7–57·3; or 8·4% [7·7–9·1]) (54% males) had compared 53·0 (49·0–57·1; 8·9% [8·2–9·5]) 1990. About 95% these low-income middle-income countries. increased 3·8 UI 2·8–4·9) 3·9 (2·9–5·2) 2016. These accounted 13·3% 29·3 conditions Vision loss was most prevalent followed by largest contributor both Although decreased (except North America) between 2016, number significantly sub-Saharan Africa (71·3%) Middle East (7·6%). South Asia highest America lowest.InterpretationThe burden has not improved since 1990, suggesting inadequate potential who survived result child survival programmes, particularly south Asia. SDGs provide framework policy action address needs at risk disabilities, resource-poor countries.FundingThe Bill & Melinda Gates Foundation.

Language: Английский

---

Cerebral palsy in children: a clinical overview

Translational Pediatrics, Journal Year: 2020, Volume and Issue: 9(S1), P. S125 - S135

Published: Feb. 1, 2020

Abstract: Cerebral palsy (CP) is a disorder characterized by abnormal tone, posture and movement clinically classified based on the predominant motor syndrome—spastic hemiplegia, spastic diplegia, quadriplegia, extrapyramidal or dyskinetic. The incidence of CP 2–3 per 1,000 live births. Prematurity low birthweight are important risk factors for CP; however, multiple other have been associated with an increased CP, including maternal infections, gestation. In most cases initial injury to brain occurs during early fetal development; intracerebral hemorrhage periventricular leukomalacia main pathologic findings found in preterm infants who develop CP. diagnosis primarily clinical findings. Early possible combination history, use standardized neuromotor assessment magnetic resonance imaging (MRI); settings more reliably recognized 2 years age. MRI scan indicated delineate extent lesions identify congenital malformations. Genetic tests inborn errors metabolism specific disorders. Because secondary medical conditions, its management requires multidisciplinary team approach. Most children grow up be productive adults.

Language: Английский

---

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Nature Genetics, Journal Year: 2020, Volume and Issue: 52(10), P. 1046 - 1056

Published: Sept. 28, 2020

Language: Английский

---

Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines

JAMA Pediatrics, Journal Year: 2023, Volume and Issue: 177(5), P. 472 - 472

Published: March 6, 2023

Importance Exome sequencing is a first-tier diagnostic test for individuals with neurodevelopmental disorders, including intellectual disability/developmental delay and autism spectrum disorder; however, this recommendation does not include cerebral palsy. Objective To evaluate if the yield of exome or genome in palsy similar to that other disorders. Data Sources The study team searched PubMed studies published between 2013 2022 using genetic testing terms. were analyzed during March 2022. Study Selection Studies performing at least 10 participants included. fewer than reporting variants detected by tests excluded. Consensus review was performed. initial search identified 148 studies, which 13 met inclusion criteria. Extraction Synthesis extracted 2 investigators pooled random-effects meta-analysis. Incidence rates corresponding 95% CIs prediction intervals calculated. Publication bias evaluated Egger test. Variability included assessed via heterogeneity I statistic. Main Outcomes Measures primary outcome (rate pathogenic/likely pathogenic variants) across studies. Subgroup analyses performed based on population age use exclusion criteria patient selection. Results Thirteen consisting 2612 overall 31.1% (95% CI, 24.2%-38.6%; = 91%). higher pediatric populations (34.8%; 28.3%-41.5%) adult (26.9%; 1.2%-68.8%) among used selection (42.1%; 36.0%-48.2%) those did (20.7%; 12.3%-30.5%). Conclusions Relevance In systematic meta-analysis, disorders recommended as standard care. from meta-analysis provide evidence support current evaluation

Language: Английский

---

Magnesium sulphate for women at risk of preterm birth for neuroprotection of the fetus

Cochrane library, Journal Year: 2024, Volume and Issue: 2024(7)

Published: May 10, 2024

Language: Английский

---

Epidemiology of cerebral palsy in Bangladesh: a population‐based surveillance study

Developmental Medicine & Child Neurology, Journal Year: 2018, Volume and Issue: 61(5), P. 601 - 609

Published: Nov. 5, 2018

Aim To examine the prevalence, clinical characteristics, and risk factors of cerebral palsy (CP) in children Bangladesh. Method The Bangladesh CP Register is an ongoing population‐based surveillance database with from a geographically defined area Cases were based on Surveillance Europe Australian criteria after assessments identification by key informant's method. Results In total, 726 identified between January 2015 December 2016. Mean age was 7 years months (standard deviation [SD] 4y 6mo; range: 4.8mo–18y; median 7y 1.2mo; 61.8% male, 38.2% female). at diagnosis 5 2 (SD 3.8). Observed prevalence 3.4 per 1000 (95% confidence interval [CI]: 3.2–3.7), resulting estimated 233 514 CI: 219 778–254 118) majority (79.6%) had spastic CP. Altogether, 79.6% least one associated impairment (speech 67.6%, intellectual 39.0%, epilepsy 23.7%, visual 10.2%, hearing 10.2%). 78.2% never received rehabilitation. Interpretation Bangladesh, burden high, substantially delayed, limiting opportunities for early intervention. There lack available services preventable factors. What this paper adds Prevalence rural are have potentially Diagnosis

Language: Английский

---

Genetic mimics of cerebral palsy

Movement Disorders, Journal Year: 2019, Volume and Issue: 34(5), P. 625 - 636

Published: March 26, 2019

Abstract The term “cerebral palsy mimic” is used to describe a number of neurogenetic disorders that may present with motor symptoms in early childhood, resulting misdiagnosis cerebral palsy. Cerebral describes heterogeneous group neurodevelopmental characterized by onset infancy or childhood (including hypotonia, spasticity, dystonia, and chorea), often accompanied developmental delay. primary etiology syndrome should always be identified if possible. This particularly important the case genetic metabolic have specific disease‐modifying treatment. In this article, we discuss clinical features alert clinician possibility mimic, provide practical framework for selecting interpreting neuroimaging, biochemical, investigations, highlight selected conditions predominant dystonia/chorea, ataxia. Making precise diagnosis disorder has implications treatment, advising family regarding prognosis counseling. © 2019 International Parkinson Movement Disorder Society

Language: Английский

---

Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy

JAMA, Journal Year: 2021, Volume and Issue: 325(5), P. 467 - 467

Published: Feb. 2, 2021

Cerebral palsy is a common neurodevelopmental disorder affecting movement and posture that often co-occurs with other disorders. Individual cases of cerebral are attributed to birth asphyxia; however, recent studies indicate asphyxia accounts for less than 10% cases.To determine the molecular diagnostic yield exome sequencing (prevalence pathogenic likely variants) in individuals palsy.A retrospective cohort study patients included clinical laboratory referral data accrued between 2012 2018 health care-based 2007 2017.Exome copy number variant detection.The primary outcome was sequencing.Among 1345 from cohort, median age 8.8 years (interquartile range, 4.4-14.7 years; 0.1-66 years) 601 (45%) were female. Among 181 41.9 28.0-59.6 4.8-89 96 (53%) The 32.7% (95% CI, 30.2%-35.2%) 10.5% 6.0%-15.0%) cohort. ranged 11.2% 6.4%-16.2%) without intellectual disability, epilepsy, or autism spectrum 32.9% 25.7%-40.1%) all 3 comorbidities. Pathogenic variants identified 229 genes (29.5% 1526 patients); 86 mutated 2 more (20.1% patients) 10 mutations independently both cohorts (2.9% patients).Among who underwent sequencing, prevalence predominantly consisted pediatric adult patients. Further research needed understand implications these findings.

Language: Английский

---

The role of mirror mechanism in the recovery, maintenance, and acquisition of motor abilities

Neuroscience & Biobehavioral Reviews, Journal Year: 2021, Volume and Issue: 127, P. 404 - 423

Published: April 25, 2021

Language: Английский

---

In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy

Brain, Journal Year: 2021, Volume and Issue: 145(1), P. 119 - 141

Published: June 1, 2021

Abstract Cerebral palsy is the most prevalent physical disability in children; however, its inherent molecular mechanisms remain unclear. In present study, we performed in-depth clinical and analysis on 120 idiopathic cerebral families, identified underlying detrimental genetic variants 45% of these patients. addition to germline variants, found disease-related postzygotic mutations ∼6.7% We that patients with more severe motor impairments or a comorbidity intellectual had significantly higher chance harbouring variants. By compilation 114 known cerebral-palsy-related genes, characteristic features terms inheritance function, from which proposed dichotomous classification system according expression patterns genes associated cognitive impairments. two both disability, revealed defective TYW1, tRNA hypermodification enzyme, caused primary microcephaly problems motion cognition by hindering neuronal proliferation migration. Furthermore, developed an algorithm demonstrated mouse brains this malfunctioning specifically perturbed translation subset proteins involved cell cycling. This finding provided novel interesting mechanism for congenital microcephaly. another patient normal intelligence, mitochondrial enzyme GPAM, hypomorphic form led hypomyelination corticospinal tract human models. addition, confirmed aberrant Gpam mice lipid metabolism astrocytes, resulting suppressed astrocytic shortage contents supplied oligodendrocytic myelination. Taken together, our findings elucidate aspects aetiology provide insights future therapeutic strategies.

Language: Английский

---