scholarly journals Cognitive functioning in patients with classical galactosemia: a systematic review

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Merel E. Hermans ◽  
Mendy M. Welsink-Karssies ◽  
Annet M. Bosch ◽  
Kim J. Oostrom ◽  
Gert J. Geurtsen

Abstract Background Patients with the metabolic disorder classical galactosemia suffer from long-term complications despite a galactose-restricted diet, including a below average intelligence level. The aim of the current review was to investigate the incidence and profile of cognitive impairments in patients with classical galactosemia. Method MEDLINE, EMBASE and PsychINFO were searched up to 23 October 2018 for studies examining information processing speed, attention, memory, language, visuospatial functioning, executive functioning and social cognition in patients with confirmed classical galactosemia utilizing standardized neuropsychological tests. Data synthesis followed a narrative approach, since the planned meta-analysis was not possible due to large variability between the neuropsychological assessments. Results Eleven studies were included, including case-studies. The quality of most studies was moderate to low. As a group, patients with classical galactosemia exhibit below average to low scores on all cognitive domains. A large proportion of the patients perform on an impaired level on attention, memory and vocabulary. Evidence for impairments in information processing speed, language, visuospatial functioning and aspects of executive functioning was limited due to the small number of studies investigating these cognitive functions. Social cognition was not examined at all. Conclusions Given the moderate to low quality of the included studies and the limited evidence in many cognitive domains, the incidence of cognitive impairment in patients with classical galactosemia is not yet clear. Both clinicians and researchers encountering patients with classical galactosemia need to be aware of possible cognitive impairments. Future well-designed studies are needed to determine the cognitive profile of classical galactosemia. This can be the basis for the development of intervention strategies.

2013 ◽  
Vol 19 (5) ◽  
pp. 613-620 ◽  
Author(s):  
Emily M. Owens ◽  
Douglas R. Denney ◽  
Sharon G. Lynch

AbstractPrevious studies show that MS patients take longer than healthy controls to plan their solutions to Tower of London (TOL) problems but yield conflicting results regarding the quality of their solutions. The present study evaluated performance under untimed or timed conditions to assess the possibility that differences in planning ability only occur when restrictions in solution times are imposed. MS patients (n = 39) and healthy controls (n = 43) completed a computerized version of the TOL under one of two conditions. In the untimed condition, participants were allowed as much time as needed on each problem. In the timed condition, limits were imposed on solution times and time remaining was displayed with each problem. Patients exhibited longer planning times than controls, and the disparity between groups increased with problem difficulty. Planning performance depended upon condition. In the untimed condition, patients and controls performed equally well. When solution times were restricted, however, patients solved fewer problems than controls. MS patients’ planning ability is intact when permitted sufficient time to formulate the required plan. Deficiencies in planning are only evident when time is restricted, and, therefore, are more accurately considered a relative consequence of disease-related problems in information processing speed. (JINS, 2013, 19, 1–8)


2019 ◽  
Vol 34 (7) ◽  
pp. 1175-1191 ◽  
Author(s):  
Thomas P Ross ◽  
Sydne O’Connor ◽  
Graham Holmes ◽  
Brittany Fuller ◽  
Megan Henrich

Abstract Objective This study examined the test–retest reliability and construct validity of the Action Fluency Test (AFT) as a measure of executive functioning. Method Using a correlational design, 128 healthy college students (M Age = 19.24, SD = 2.01; M education = 13.29 years, SD = 0.81) completed the AFT, and measures of verbal and figural fluency, executive functioning and other relevant constructs (e.g., vocabulary, working memory, and attention). Results Coefficients of stability were acceptable for AFT correct words (r = .76; p < .01), but not for errors (r = .41) or perseverations (r = .14). No practice effects were observed upon repeat testing (M interval = 39.21 days). Divergent validity evidence was mixed. AFT scores were unrelated to working memory and perceptual-reasoning abilities; however, correlations with vocabulary (r = .32; p < .01) and information-processing speed (r = .30; p < .01) were greater than associations between AFT scores and executive measures. Regarding convergent validity, AFT scores correlated with other fluency tasks (r = .4 range), but correlations with measures of executive functioning were absent or small. Action and letter fluency correlated with measures of attentional control and inhibition; however, these associations were no longer significant after controlling for shared variance with information-processing speed. Conclusions Findings are consistent with previous research suggesting vocabulary and information-processing speed underlie effective fluency performance to a greater extent than executive functioning. The AFT measures unique variance not accounted for by semantic and letter fluency tasks, and therefore may be used for a variety of research and clinical purposes.


2008 ◽  
Vol 14 (5) ◽  
pp. 805-814 ◽  
Author(s):  
J.A.B. MACNIVEN ◽  
C. DAVIS ◽  
M.-Y. HO ◽  
C.M. BRADSHAW ◽  
E. SZABADI ◽  
...  

Cognitive impairments in information processing speed, attention and executive functioning are widely reported in patients with multiple sclerosis (MS). Several studies have identified impaired performance on the Stroop test in people with MS, yet uncertainty remains over the cause of this phenomenon. In this study, 25 patients with MS were assessed with a neuropsychological test battery including a computerized Stroop test and a computerized test of information processing speed, the Graded Conditional Discrimination Tasks (GCDT). The patient group was compared with an individually age, sex and estimated premorbid IQ-matched healthy control group. The patients' reaction times (RTs) were significantly longer than those of the controls on all Stroop test trials and there was a significantly enhanced absolute (RTincongruent-RTneutral) and relative (100·[RTincongruent-RTneutral]/RTneutral) Stroop interference effect for the MS group. The linear function relating RT to stimulus complexity in the GCDT was significantly steeper in the patient group, indicating slowed information processing. The results are discussed with reference to the difference engine model, a theory of diversity in speeded cognition. It is concluded that, in the assessment of people with MS, great caution must be used in the interpretation of performance on neuropsychological tests which rely on RT as the primary measure. (JINS, 2008, 14, 805–814.)


2006 ◽  
Vol 12 (1) ◽  
pp. 77-87 ◽  
Author(s):  
U Nocentini ◽  
P Pasqualetti ◽  
S Bonavita ◽  
M Buccafusca ◽  
M F De Caro ◽  
...  

Cognitive dysfunction is considered one of the clinical markers of multiple sclerosis (MS). However, in the literature there are inconsistent reports on the prevalence of cognitive dysfunction, and separate data for the relapsing-remitting (RR) type of the disease are not always presented. In this study, we submitted 461 RRMS patients to a battery of neuropsychological tests to investigate their impairment in various cognitive domains. As a consequence of the exclusion criteria, the sample is not fully representative of the entire population of RRMS patients. In this selected sample, when only the eight scores of a core battery (Mental Deterioration Battery) were considered (with respective cutoffs), it emerged that 31% of the patients were affected by some degree of cognitive deficit. In particular, 15% had mild, 11.2% moderate and 4.8% had severe impairment. Information processing speed was the most frequently impaired area, followed by memory. When two other tests (SDMT and MCST) were added and cognitive domains were considered, it emerged that 39.3% of the patients were impaired in two or more domains. When four subgroups were obtained by means of cluster analysis and then compared, it emerged that information processing speed and memory deficits differentiated the still cognitively unimpaired from the mildly impaired MS patients. Significant associations were found between cognitive and clinical characteristics. However, due to the large sample size, clinically irrelevant relationships may also have emerged. Even with the limitations imposed by the sample selection and the possible underestimation of the prevalence and severity of cognitive dysfunction, these results seem to provide further evidence that information processing speed deficit may be an early and important marker of cognitive impairment in MS patients.


2014 ◽  
Vol 20 (13) ◽  
pp. 1769-1779 ◽  
Author(s):  
Andrés Labiano-Fontcuberta ◽  
Alex J Mitchell ◽  
Sara Moreno-García ◽  
Julián Benito-León

Background: Little information exists about how cognitive impairment in multiple sclerosis (MS) patients impacts on their caregivers’ health-related quality of life (HRQoL). Background: The objective of this paper is to examine the extent to which cognitive impairment in MS patients contributes to caregivers’ HRQoL. Methods: A total of 63 MS patients, 63 caregivers and 59 matched controls were recruited. Patients and controls underwent a neuropsychological assessment, including tests of working memory, speed of information processing, executive function, and verbal fluency. HRQoL of the caregivers was assessed by CAREQOL-MS. In logistic regression models, we adjusted for the effects of confounding variables. In these models, the dependent variable was the CAREQOL-MS (higher median of CAREQOL-MS (worse HRQoL) vs. lower median of CAREQOL-MS (better HRQoL) (reference)), and the independent variable was the impairment on each neuropsychological test vs. its integrity (reference). Results: Cognitive impairment in MS patients was significantly associated with worse caregiver HRQoL (adjusted odds ratio (OR) = 3.10, 95% confidence interval (CI) = 1.07–11.55, p = 0.04). In secondary analyses in which each neuropsychological test was entered in the analyses separately, only Symbol Digit Modalities Test (a measurement of information processing speed) impairment (OR = 4.22, 95%, CI = 1.16–14.53, p = 0.03) was significantly associated with worse caregiver HRQoL. Conclusions: MS patients’ caregivers’ HRQoL is significantly influenced by information processing speed impairment of MS patients.


Author(s):  
Sahar Salavati ◽  
Anne E. den Heijer ◽  
Maraike A. Coenen ◽  
Janneke L.M. Bruggink ◽  
Christa Einspieler ◽  
...  

Abstract Objective: Preterm birth poses a risk to cognition during childhood. The resulting cognitive problems may persist into young adulthood. The early motor repertoire in infancy is predictive of neurocognitive development in childhood. Our present aim was to investigate whether it also predicts neurocognitive status in young adulthood. Method: We conducted an explorative observational follow-up study in 37 young adults born at a gestational age of less than 35 weeks and/or with a birth weight below 1200 g. Between 1992 and 1997, these individuals were videotaped up until 3 months’ corrected age to assess the quality of their early motor repertoire according to Prechtl. The assessment includes general movements, fidgety movements (FMs), and a motor optimality score (MOS). In young adulthood, the following cognitive domains were assessed: memory, speed of information processing, language, attention, and executive function. Results: Participants in whom FMs were absent in infancy obtained lower scores on memory, speed of information processing, and attention than those with normal FMs. Participants with aberrant FMs, that is, absent or abnormal, obtained poorer scores on memory, speed of information processing speed, attention, and executive function compared to peers who had normal FMs. A higher MOS was associated with better executive function. Conclusions: The quality of the early motor repertoire is associated with performance in various cognitive domains in young adulthood. This knowledge may be applied to enable the timely recognition of preterm-born individuals at risk of cognitive dysfunctions.


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