Dataset Information

Brain MRI features of methylmalonic acidemia in children: the relationship between neuropsychological scores and MRI findings.

ABSTRACT: Methylmalonic acidemia (MMA) is a severe, heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism with a poor prognosis that can cause brain damage. Identifying the magnetic resonance imaging (MRI) findings of MMA might help to make accurate diagnoses earlier in the disease course and exploring the relationship between neuropsychological scores and MRI findings, when therapy is more effective and to improve therapeutic efficacy. Cerebral MRI studies from 37 children with MMA were evaluated by a neuroradiologist. Clinical and imaging data were collected from each patient. All tests were performed during routine investigations and in accordance with the ethical principles of the Declaration of Helsinki. Informed consent was obtained from the guardians of all patients for inclusion in the study. The most common and significant findings were periventricular white matter changes (78.4%), ventricular dilation (29.7%) and cerebral atrophy (40.5%). According to the developmental quotient, the 37 patients were divided into the normal intelligence subgroup (NI, developmental quotient???85) and the low intelligence subgroup (LI, developmental quotient?

SUBMITTER: Yang L

PROVIDER: S-EPMC7403351 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature

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Brain MRI features of methylmalonic acidemia in children: the relationship between neuropsychological scores and MRI findings.

Yang Linfeng L Guo Bin B Li Xue X Liu Xiangyu X Wei Xinhong X Guo Lingfei L

Scientific reports 20200804 1

Methylmalonic acidemia (MMA) is a severe, heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism with a poor prognosis that can cause brain damage. Identifying the magnetic resonance imaging (MRI) findings of MMA might help to make accurate diagnoses earlier in the disease course and exploring the relationship between neuropsychological scores and MRI findings, when therapy is more effective and to improve therapeutic efficacy. Cerebral MRI studies from 37 children ...[more]

PMID: 32753589

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Project description:IntroductionThis pilot study assessed instruments measuring relatively discrete neuropsychological domains to inform the selection of clinical outcome assessments that may be considered for interventional trials in methylmalonic acidemia (MMA) and propionic acidemia (PA).MethodsTests and questionnaires were selected for their possible relevance to MMA and PA and potential sensitivity to modest changes in functioning and behavior.ResultsTwenty-one patients (<18 years, n = 10;>18 years, n = 11) and/or their caregivers responded to video interviews and paper tests. Language deficits and significant motor deficits in some participants impacted scoring, especially in the verbal and processing speed sections of the Wechsler Intelligence Scale for Children, Fifth Edition (WISC-V) and the Wechsler Adult Intelligence Scale, Fourth Edition (WAIS-IV). However, all participants ≥12 years of age were able to complete the Cookie Theft Picture Task. Thus, verbal discourse remains a potentially useful endpoint for participants in this age group. The Vineland Adaptive Behavior Scales (VABS-3) Adaptive Behavior Composite and Communication Scores confirmed delayed or immature functioning in day-to-day activities in these participants. Significant motor deficits prevented completion of some tests. Computerized processing speed tasks, which require pressing a button or tapping a computer screen, may be easier than writing or checking off boxes on paper in this cohort. Sleep characteristics among MMA participants were within normative ranges of the Child and Adolescent Sleep Checklist (CASC), indicating that this measurement would not provide valuable data in a clinical trial. Despite their challenges, responses to the Metabolic Quality of Life Questionnaire indicated these patients and their caregivers perceive an overall high quality of life.ConclusionOverall, test and questionnaire results were notably different between participants with MMA and participants with PA. The study demonstrates that pilot studies can detect instruments that may not be appropriate for individuals with language or motor deficits and that may not provide a broad range of scores reflecting disease severity. It also provides a rationale for focusing on discrete neuropsychological domains since some aspects of functioning were less affected than others and some were more closely related to disease severity. When global measures are used, overall scores may mask specific deficits. A pilot study like this one cannot ensure that scores will change over time in response to a specific treatment in a clinical trial. However, it can avert the selection of instruments that do not show associations with severity or biomedical parameters likely to be the target of a clinical trial. A pilot study can also identify when differences in diagnoses and baseline functioning need to be addressed prior to developing the analytical plan for the trial.

Dataset Information

Brain MRI features of methylmalonic acidemia in children: the relationship between neuropsychological scores and MRI findings.

Publications

Brain MRI features of methylmalonic acidemia in children: the relationship between neuropsychological scores and MRI findings.

Similar Datasets

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