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Mild deficits in attentional control in patients with the IGSF 1 deficiency syndrome
Author(s) -
Joustra S.D.,
Andela C.D.,
Oostdijk W.,
Trotsenburg A.S.P.,
Fliers E.,
Wit J.M.,
Pereira A.M.,
Middelkoop H.A.M.,
Biermasz N.R.
Publication year - 2016
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/cen.12947
Subject(s) - cambridge neuropsychological test automated battery , mood , medicine , neuropsychology , levothyroxine , cognition , psychology , working memory , audiology , thyroid , clinical psychology , psychiatry , spatial memory
Summary Objective Male patients with the X‐linked IGSF 1 deficiency syndrome are characterized by central hypothyroidism, delayed pubertal testosterone rise, adult macroorchidism, variable prolactin deficiency and occasionally transient partial growth hormone deficiency. Thyroid hormone plays a vital role in brain development and functioning, and while most patients receive adequate replacement therapy starting shortly after birth, it is unknown whether this syndrome is accompanied by long‐term impaired cognitive functioning. We therefore assessed cognitive functioning in male patients with IGSF 1 deficiency. Methods Fifteen adult male patients with IGSF 1 deficiency participated in neuropsychological assessment of executive functioning and memory, and completed validated questionnaires on health‐related quality of life ( HRQ oL), mood and fatigue. Results were compared to data from previous studies by our department: 54 healthy controls (76 for the attention task) for the test battery and 191 healthy controls for the questionnaires. Results All patients had central hypothyroidism, and twelve were treated with levothyroxine. Patients performed worse than controls in tasks that required attentional control (Trail Making Test, Letter‐Digit Substitution Test, and Sustained Attention to Response Task) (all P < 0·001). Memory was unaffected. In addition, patients reported more mental fatigue and reduction of activity (Multidimensional Fatigue Inventory) (both P < 0·01), while HRQ oL and mood reports were not different from controls. Age at the start of replacement therapy and current thyroxine levels were not related to outcome. Conclusions Adult male patients with IGSF 1 deficiency exhibit mild deficits in attentional control on formal testing. This finding was not related to the age at start of replacement therapy, or current levothyroxine treatment.