Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia.

Korner, Mirjam; Kälin, Sonja; Zweifel-Zehnder, Antoinette; Fankhauser, Niklaus; Nuoffer, Jean-Marc; Gautschi, Matthias (2019). Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia. Orphanet journal of rare diseases, 14(1), p. 56. BioMed Central 10.1186/s13023-019-0999-3

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BACKGROUND

Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet fails to prevent long-term complications, including cognitive impairment, neurological and psychiatric problems, osteoporosis, premature ovarian failure and infertility. Detailed neuropsychological phenotyping is needed in order to better understand the relevant neurodevelopmental deficiencies and to develop effective treatment strategies.

AIM

To define specifically and significantly impaired neuropsychological traits in adult CG patients of the Swiss cohort.

METHODS

Prospective cohort study. 22 CG patients, with confirmed genotype and low GALT activity, and 15 controls completed a computer-based neuropsychological test battery (CANTAB). Additionally, broad IQ evaluation was made for the CG patients.

RESULTS

In most outcome measures of the CANTAB tasks, CG patients performed significantly worse than controls. The deficits in CG patients were most prominent in tasks that involve rapid visual information processing and facial emotion recognition.

CONCLUSION

CG patients have specific cognitive problems such as impaired visual information processing and facial emotion recognition. The deficits in facial emotion recognition have not been described before and could help explain difficulties in social interactions often experienced by patients with CG.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Pre-clinic Human Medicine > CTU Bern
04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Kälin, Sonja; Zweifel-Zehnder, Antoinette; Fankhauser, Niklaus; Nuoffer, Jean-Marc and Gautschi, Matthias

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1750-1172

Publisher:

BioMed Central

Language:

English

Submitter:

Alexandra Müller

Date Deposited:

03 Jan 2020 09:43

Last Modified:

31 Jan 2020 10:51

Publisher DOI:

10.1186/s13023-019-0999-3

PubMed ID:

30808388

Uncontrolled Keywords:

CANTAB Classical galactosemia Executive function Facial emotion recognition Neuropsychology Sustained attention Visual information processing

BORIS DOI:

10.7892/boris.136891

URI:

https://boris.unibe.ch/id/eprint/136891

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