scholarly journals B-20 Neuropsychological Profile in an Individual with Mitochondrial Encephalopathy, Lactic acidosis, and Stroke-like episodes (MELAS): A Case Study

2019 ◽  
Vol 34 (6) ◽  
pp. 965-965
Author(s):  
P Figueroa ◽  
C Barbeito ◽  
S Ireland
Keyword(s):  
Lactic Acidosis ◽  
Comprehensive Evaluation ◽  
Neuropsychological Functioning ◽  
Molecular Genetic ◽  
Receptive Language ◽  
Fine Motor ◽  
Functional Impact ◽  
Mitochondrial Encephalopathy ◽  
Neuropsychological Profile ◽  
Extensive Evaluation

Abstract Objective Mitochondrial Encephalopathy, Lactic acidosis, and Stroke-like episodes (MELAS) is a rare and debilitating mitochondrial disease that affects bodily systems at the neurological level. The purpose of this study is to contribute to the paucity of research regarding the neuropsychological presentation and functional impact of MELAS. Method Mr. James is a 23-year-old male of Thai descent who initially presented with 2-3 days of headaches followed by generalized seizures and altered mental status. Over the course of one year, Mr. James experienced recurrent seizures with postictal confusion, and transient aura-like episodes. Patient was diagnosed with MELAS based off a combination of clinical findings, including magnetic resonance imaging (MRI) spectroscopy (SPECT) and molecular genetic testing. Extensive evaluation revealed persistent bilateral multifocal cortical/subcortical lesions, diffuse edema like signal and expansion involving the bifrontal, bitemporal, and bilateral subinsular cortices. Neuropsychological sequalae included physical, cognitive, and emotional changes from baseline. Results Mr. James was given a comprehensive neuropsychological battery in order to identify marked changes from his pre-morbid levels of neuropsychological functioning. Consistent with the literature, his profile revealed hallmark expressive and receptive language difficulties and markedly reduced bilateral fine motor functioning. In addition, problems with higher order executive skills (i.e., cognitive flexibility, problem-solving, and hypothesis testing) were elucidated, correlating with individual findings on neuroimaging. Conclusions Neuropsychological evaluation of Mr. James contributes to the dearth of research surrounding MELAS. These findings also highlight the importance of neuropsychological testing as part of the comprehensive evaluation for diagnostic clarification, and provide recommendations of the functional impact for others affected with this disease.

A-36 Case Study of Cerebellar Cognitive Affective Syndrome in 17-Year-Old Male with Cerebellar Arachnoid Cyst

2021 ◽  
Vol 36 (6) ◽  
pp. 1077-1077
Author(s):  
Laura Nicholson ◽  
Elizabeth Marston ◽  
Christopher Haak ◽  
Nicole Cruz
Keyword(s):  
Arachnoid Cyst ◽  
Visual Memory ◽  
Comprehensive Evaluation ◽  
Mass Effect ◽  
Intellectual Ability ◽  
Fine Motor ◽  
Cerebellar Cognitive Affective Syndrome ◽  
Neuropsychological Profile ◽  
Minimal Mass

Abstract Objective Arachnoid cysts are often congenital and asymptomatic, however, they may contribute to neurocognitive symptoms when there is a mass effect on the brain. This case study describes how a 17-year-old with cerebellar arachnoid cyst, and minimal mass effect exhibited symptoms of cerebellar cognitive affective syndrome (CCAS), which has been mostly associated with brain tumor or injury in prior research. Method In this case study, a posterior cerebellar arachnoid cyst (midline) was identified incidentally (via CT scan and later MRI) following a panic attack associated with face twitching, motor tremors, and clumsiness. Background history was collected via medical records, neurologist consultation, and parent and patient interview. Patient history was significant for speech, language, motor, and academic delays. Results Results of a comprehensive evaluation revealed deficits in perceptual reasoning, visual memory, fine motor functioning, attention, processing speed, executive functioning, social cognition and receptive/expressive language. Multi-informant ratings indicated anxiety. Reading, writing, and mathematics fell several years below grade- level in the context of low average intellectual ability (WAIS-IV: GAI = 88). Conclusions Many deficits in this neuropsychological profile are typically subsumed by the cerebellum or its associated networks, and overlap with CCAS. The findings of this case study warrant consideration by clinicians of functional impairment related to cerebellar cysts and expansion of our knowledge-base of cerebellar function.

scholarly journals Creation of the WHO Indicators of Infant and Young Child Development (IYCD): metadata synthesis across 10 countries

2018 ◽  
Vol 3 (5) ◽  
pp. e000747 ◽  
Author(s):  
Gillian A Lancaster ◽  
Gareth McCray ◽  
Patricia Kariger ◽  
Tarun Dua ◽  
Andrew Titman ◽  
...  
Keyword(s):  
Child Development ◽  
Developmental Trajectories ◽  
Receptive Language ◽  
Early Years ◽  
Fine Motor ◽  
Response Analysis ◽  
Data Sets ◽  
Cross Sectional ◽  
Low Middle Income Countries ◽  
Common Scale

BackgroundRenewed global commitment to the improvement of early child development outcomes, as evidenced by the focus of the United Nations Sustainable Development Goal 4, highlights an increased need for reliable and valid measures to evaluate preventive and interventional efforts designed to affect change. Our objective was to create a new tool, applicable across multicultures, to measure development from 0 to 3 years through metadata synthesis.MethodsFourteen cross-sectional data sets were contributed on 21 083 children from 10 low/middle-income countries (LMIC), assessed using seven different tools (caregiver reported or directly assessed). Item groups, measuring similar developmental skills, were identified by item mapping across tools. Logistic regression curves displayed developmental trajectories for item groups across countries and age. Following expert consensus to identify well-performing items across developmental domains, a second mapping exercise was conducted to fill any gaps across the age range. The first version of the tool was constructed. Item response analysis validated our approach by putting all data sets onto a common scale.Results789 individual items were identified across tools in the first mapping and 129 item groups selected for analysis. 70 item groups were then selected through consensus, based on statistical performance and perceived importance, with a further 50 items identified at second mapping. A tool comprising 120 items (23 fine motor, 23 gross motor, 20 receptive language, 24 expressive language, 30 socioemotional) was created. The linked data sets on a common scale showed a curvilinear trajectory of child development, highlighting the validity of our approach through excellent coverage by age and consistency of measurement across contributed tools, a novel finding in itself.ConclusionsWe have created the first version of a prototype tool for measuring children in the early years, developed using novel easy to apply methodology; now it needs to be feasibility tested and piloted across several LMICs.

Gender differences in the developmental outcomes of children with congenital cardiac defects

2012 ◽  
Vol 22 (5) ◽  
pp. 514-519 ◽  
Author(s):  
Annette Majnemer ◽  
Catherine Limperopoulos ◽  
Michael Shevell ◽  
Charles Rohlicek ◽  
Bernard Rosenblatt ◽  
...  
Keyword(s):  
Gender Differences ◽  
Brain Injury ◽  
Functional Independence Measure ◽  
Early Brain Injury ◽  
Functional Independence ◽  
Receptive Language ◽  
Full Scale ◽  
Fine Motor ◽  
Intellectual Quotient ◽  
Neuroprotective Strategies

AbstractObjectiveThis study compares the developmental and functional outcomes at school entry between boys and girls born with a congenital cardiac defect who required early surgical correction.Study designA prospective cohort of 94 children, including 49 percent boys, were followed up to 5 years of age and assessed for developmental progress. Developmental measures included Wechsler Preschool and Primary Scale of Intelligence – cognitive; Peabody Picture Vocabulary Test – receptive language; Peabody Developmental Motor Scale – motor; and Child Behaviour Checklist – behaviour. Measures of function included the Vineland Adaptive Behavior Scale and Functional Independence Measure for Children (WeeFIM).ResultsThe mean scores of the boys on the WeeFIM subscales, such as self-care, mobility, cognition, were significantly lower than that of the girls. There was a trend for a greater proportion of boys to have abnormalities on neurological examination (boys 37.5 percent abnormal, girls 19.5 percent abnormal). Verbal, performance, and full scale Intellectual Quotients were 5–7 points lower in boys but did not reach significance (full scale Intellectual Quotient: boys 87.7 plus or minus 22.2; girls 93.9 plus or minus 19.3). Boys were more likely to have fine motor delays (50 percent, 82.7 plus or minus 16.5) compared with girls (28.2 percent, 87.0 plus or minus 15.8). There were no gender differences in receptive language or behavioural difficulties.ConclusionsBoys born with congenital heart disease requiring early surgical repair appear to be at enhanced risk for neuromotor impairments and activity limitations. Findings support gender differences in the pathogenesis of early brain injury following hypoxic–ischaemic insults. This has implications for neuroprotective strategies to prevent brain injury.

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