Publications by authors named "Merel E Hermans"

3 Publications

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Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Orphanet J Rare Dis 2020 09 7;15(1):238. Epub 2020 Sep 7.

Department of Pediatrics, room H7-270, Amsterdam University Medical Centre, MC, PO BOX 22660, 1100 DD, Amsterdam, The Netherlands.

An amendment to this paper has been published and can be accessed via the original article.
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http://dx.doi.org/10.1186/s13023-020-01447-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7487470PMC
September 2020

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Orphanet J Rare Dis 2020 02 7;15(1):42. Epub 2020 Feb 7.

Department of Pediatrics, room H7-270, Amsterdam University Medical Centre, MC, PO BOX 22660, 1100 DD, Amsterdam, The Netherlands.

Background: Despite early diagnosis and treatment, Classical Galactosemia (CG) patients frequently develop long-term complications, such as cognitive impairment. Available literature primarily reports on general intellectual abilities and shows a substantially lower Full Scale Intelligence Quotient (FSIQ) in CG patients than in the general population. Both problems in social functioning as well as internalizing problems are often reported in CG patients. The combination of intelligence, cognitive functioning, behavior and social functioning has not been studied systematically in CG patients.

Methods: To determine if CG patients demonstrate a specific neuropsychological and psychosocial profile, we investigated intelligence, functioning on multiple cognitive domains, behavior and social functioning with a comprehensive neuropsychological test battery and questionnaires (self- and proxy-reported).

Results: The data of 48 patients, aged 4-47 years are reported. FSIQ ranged from 45 to 103 (mean 77 ± 14). A negative correlation between age and FSIQ was demonstrated (p = 0.037) which resulted directly from the inclusion of four young 'milder' patients detected by newborn screening (NBS) with an expected better clinical outcome. Compared to normative data, patients had significantly lower but highly variable scores on all cognitive domains, especially on tests requiring mental speed. In the context of the FSIQ, 43% of the cognitive test results exceeded IQ based expectations. Overall, the patients' scores on social functioning were in the normal range but internalizing problems were frequently reported. In our cohort, an early initiation of dietary treatment due to NBS or family screening did not result in a more favorable neuropsychological outcome.

Conclusions: In this study, we demonstrated that as a cohort, CG patients have a below average intelligence and impaired cognitive functioning without a distinctive neuropsychological profile. The effect of age on neurocognitive functioning should be assessed in longitudinal studies. Social functioning was not impaired, but patients may be at risk for internalizing problems. Considering the large variability in cognitive, behavioral and social functioning and the finding that cognitive outcomes may exceed IQ based expectations, an individual evaluation and follow-up is warranted in all CG patients to ensure timely support if needed.
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http://dx.doi.org/10.1186/s13023-019-1277-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007688PMC
February 2020

Cognitive functioning in patients with classical galactosemia: a systematic review.

Orphanet J Rare Dis 2019 10 18;14(1):226. Epub 2019 Oct 18.

Department of Medical Psychology, Amsterdam UMC - location AMC, P.O. Box 22660, 1100 DD, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.

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.
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http://dx.doi.org/10.1186/s13023-019-1215-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6798502PMC
October 2019