Cognitive Abilities of Children With Neurological and Liver Forms of Wilson Disease

Favre, Emilie; Lion‐François, Laurence; Canton, Marie; Vanlemmens, Claire; Bonneton, Marjorie; Bouillet, Lise; Brunet, Anne-Sophie; Lachaux, Alain

doi:10.1097/mpg.0000000000001346

Cited by 6 publications

(8 citation statements)

References 15 publications

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“…Stock et al10 found reduced activity in the anterior cingulate cortex when performing inhibition tasks (an area associated with successful inhibition, a component of executive function). Favre et al11 also found relative weaknesses in working memory compared to visuospatial skills in this population, which can impact upon attentional and executive functioning. Cognitive impairments are therefore subtle and may be hard to identify, especially as routine neuropsychological testing is not part of the diagnostic work up or follow‐up of CYP with WD.…”

Section: Discussionmentioning

confidence: 68%

“…[4][5][6] Data regarding the mental health of CYP with WD is also limited to single case studies meaning broader conclusions cannot be drawn. [7][8][9] There is some evidence of impaired cognition in CYP with hepatic WD 10,11 although these impairments are usually subtle. Impairments may manifest as poor school attainment, found in more than a quarter of CYP with WD in one cohort study.…”

Section: Introductionmentioning

confidence: 99%

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Mental Health, Cognitive, and Neuropsychiatric Needs in Children and Young People With Wilson Disease

et al. 2021

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Objective: Wilson disease (WD) is associated with neurological, psychiatric, cognitive, and psychosocial difficulties, but there is little data regarding the nature and prevalence of these problems in children and young people (CYP). Methods: A single-center case-note review to establish the incidence and nature of these issues in CYP with WD, managed before and after multidisciplinary team (MDT) clinics, was established. Results: Out of 69 (43 males) CYP with WD, 37.8% presented with acute liver failure, 48.6% with chronic liver disease and 13.5% after family screening. Medical treatment was with penicillamine (40), trientene (18), zinc and penicillamine/trientene (11), and zinc monotherapy (2). Twenty-one underwent liver transplantation. After a median follow-up of 9.8 (IQR 6.4-16.9) years, 86% are alive. Six died posttransplantation and 7 grafts were lost. Mental health difficulties were recorded in 49.3%, particularly prevalent in the acute liver failure group (70.8%). Nonadherence was common (50.7%) and associated with greater mental health prevalence. Neurological issues were reported in 36.2% and poor cognition/attainment in 14.5%, consistent across modes of presentation. Four patients had diagnoses of autism spectrum conditions, all diagnosed pre WD. CYP seen within an MDT-clinic had more frequent documentation of all issues examined, but lower levels of late graft loss (94% versus 80%, P = 0.07). Conclusion:Our data highlight the need to offer management in WD patients especially as these aspects are underrecognized in CYP presenting with liver involvement. We aim to highlight the importance of multidisciplinary input when looking after this population beyond transition through to adult services.

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Section: Discussionmentioning

confidence: 68%

Section: Introductionmentioning

confidence: 99%

Mental Health, Cognitive, and Neuropsychiatric Needs in Children and Young People With Wilson Disease

et al. 2021

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“…However, case series suggest that >5% of children with hepatic presentation of WD already have neurological involvement and that >15% of patients with WD develop neurology symptoms or signs during childhood 15–17. Many patients with known hepatic WD have educational difficulties suggesting possible WD neurocognitive pathology 18…”

Section: Neuropsychiatric Manifestationsmentioning

confidence: 99%

“…Cognitive impairment can be mild initially and occasionally reversible, but in many will deteriorate over time. In children, this will mainly affect attention, learning and processing, but as the child grows up, it will start to affect higher functions including executive cognition (flexibility, planning and decision making), visual spatial skills and verbal reasoning 18. Cognitive difficulties at school may be ignored and attributed to school absence due to hospital visits, medication side effects and so on.…”

Section: Neuropsychiatric Manifestationsmentioning

confidence: 99%

Wilson disease in children and adolescents

et al. 2020

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Wilson disease (WD) is a rare, recessively inherited disorder of copper metabolism mainly affecting liver and brain. In childhood, it is known to have a predominant hepatic phenotype. It is likely that the low awareness for WD-associated neuropsychiatric signs and symptoms in this age group means that neurological Wilson’s disease is underdiagnosed in children and young people. Practitioners should be alert for this complication in children with or without liver disease. Management of children with WD requires a dedicated multidisciplinary approach involving hepatologists, geneticists, neurologists and psychiatrists to ensure subtle neuropsychiatric symptoms are identified early and addressed appropriately. This review highlights recent advances in hepatic and neuropsychiatric symptoms of WD in childhood, specific diagnostic tools and pitfalls and summarises existing and potential future treatment options.

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“…Wilson disease is an autosomal recessive disorder caused by a mutation in the ATP7B gene34 with a relative prevalence of one in every 30,000 births 35. Copper is accumulated in various organs and tissues, such as the liver and brain,36 and can induce a wide range of symptoms, such as brain disorders 35. The usual drug for this disease is oral D-penicillamine, a chelating agent for copper.…”

Section: Introductionmentioning

confidence: 99%

<p>EDTA-modified mesoporous silica as supra adsorbent of copper ions with novel approach as an antidote agent in copper toxicity</p>

Taqanaki¹,

Heidari²,

Monfared³

et al. 2019

IJN

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PurposeMesoporous silica (MS) have been considered as a biocompatible compound and found to have various pharmaceutical applications. Recently, novel approaches in applications of MS as antidote agents were introduced. In this study, the capacity of ethylenediaminetetraacetic acid modified mesoporous silica (MS-EDTA) was evaluated in in vitro and in vivo adsorption of copper (Cu).MethodsThe MS-EDTA was characterized by fourier transform infrared (FT-IR) and X-ray diffraction, while surface area was determined by N2 adsorption–desorption technique. Morphological studies were observed by high resolution-transmission electron microscopy and field emission-scanning electron microscopy and the sizes were determined by dynamic light scattering. The capacity of these particles for copper adsorption was investigated in vitro in both 1.2 and 7.2 pH. In in vivo animal study, the Cu adsorption efficiency of MS-EDTA in Cu-overdosed mice was evaluated. In this case, an animal model of acute copper poisoning was prepared.ResultsThe MS-EDTA with surface area of 352.35 was synthesized. Scanning electron microscope showed spherical particle formation with less than 500 nm in size. Transmission electron microscope images showed porous and honeycomb structure. FT-IR spectroscopy showed an appropriate formation of functional groups. Particle efficiency was investigated for Cu adsorption. MS-EDTA in both media showed a high adsorption capability for Cu (II) adsorption in pH=1.2 and pH=7.2. In addition, the study of Langmuir, Freundlich, and Redlich–Peterson adsorption models showed that copper adsorption by MS-EDTA followed the Freundlich model with multi-layer adsorption. In vivo evaluation showed that MS-EDTA could alleviate the symptoms of acute copper poisoning by lowering Cu plasma levels.ConclusionStructural evaluation showed successful formation of MS-EDTA. In vitro analysis demonstrated that supreme Cu adsorption occurs in both pH conditions (7.2 and 1.2), and was especially more favorable in simulated intestinal pH (7.2). The in vivo studies in animal models with acute Cu poisoning showed that MS-EDTA could be a potent antidote agent.

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Cognitive Abilities of Children With Neurological and Liver Forms of Wilson Disease

Cited by 6 publications

References 15 publications

Mental Health, Cognitive, and Neuropsychiatric Needs in Children and Young People With Wilson Disease

Mental Health, Cognitive, and Neuropsychiatric Needs in Children and Young People With Wilson Disease

Wilson disease in children and adolescents

<p>EDTA-modified mesoporous silica as supra adsorbent of copper ions with novel approach as an antidote agent in copper toxicity</p>

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