Mild deficits in attentional control in patients with the IGSF 1 deficiency syndrome
Open accessAbstract
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.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Joustra et al. examined executive functioning and memory, but not FSIQ, in 15 adult patients with IGSF1 deficiency syndrome; patients performed worse than controls on executive functioning tasks, while their memory function was normal.
“In addition, Joustra et al. examined executive functioning and memory, but not FSIQ, in 15 adult patients with IGSF1 deficiency syndrome. Patients performed worse than controls on executive functioning tasks, while their memory function was normal (29).”
From Cognitive and Motor Outcome in Patients with Early-Detected Central Congenital Hypothyroidism Compared with Siblings (2021) · cites this paper as [29]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Wekking, E. M., Appelhof, B. C., Fliers, E., Schene, A. H., Huyser, J., Tijssen, J. G. P., & Wiersinga, W. M. (2005) · European Journal of Endocrinology · doi:10.1530/eje.1.02025 · Cited by 299 · see citing works
Self-citationJoustra, S. D., van der Plas, E. M., Goede, J., Oostdijk, W., Delemarre‐van de Waal, H. A., Hack, W. W. M., van Buuren, S., & Wit, J. M. (2015) · Acta Paediatrica · doi:10.1111/apa.12972 · Cited by 75 · see citing works
Self-citation
Flagged first, then by citations
Research works printed but not linked: 16
- Joustra, S.D., Schoenmakers, N., Persani, L. et al. (2013) The IGSF1 deficiency syndrome: characteristics of male and female patients. Journal of Clinical Endocrinology and Metabolism, 98, 4942-4952.
- Joustra, S.D., Roelfsema, F., Endert, E. et al. (2015) Pituitary hormone secretion profiles in IGSF1 deficiency syndrome. Neu- roendocrinology, In press.
- Tiemensma, J., Biermasz, N.R., van der Mast, R.C. et al. (2010) Increased psychopathology and maladaptive personality traits, but normal cognitive functioning, in patients after long-term cure of acromegaly. Journal of Clinical Endocrinology and Meta- bolism, 95, E392-E402.
- Tiemensma, J., Kokshoorn, N.E., Biermasz, N.R. et al. (2010) Subtle cognitive impairments in patients with long-term cure of Cushing's disease. Journal of Clinical Endocrinology and Metabo- lism, 95, 2699-2714.
- Tiemensma, J., Andela, C.D., Biermasz, N.R. et al. (2015) Mild cognitive deficits in patients with primary adrenal insufficiency. Psychoneuroendocrinology, In press.
- van der Klaauw, A.A., Kars, M., Biermasz, N.R. et al. (2008) Dis- ease-specific impairments in quality of life during long-term fol- low-up of patients with different pituitary adenomas. Clinical Endocrinology (Oxford), 69, 775-784.
- Stroop, J.R. (1992) Studies of interference in serial verbal reac- tions. Journal of Experimental Psychology, 121, 15-23.
- van der Elst, W., van Boxtel, M.P., van Breukelen, G.J. et al. (2006) The Letter Digit Substitution Test: normative data for 1858 healthy participants aged 24-81 from the Maastricht Aging Study (MAAS): influence of age, education, and sex. Journal of Clinical and Experimental Neuropsychology, 28, 998- 1009.
- Van Schie, M.K., Alblas, E.E., Thijs, R.D. et al. (2014) The influ- ences of task repetition, napping, time of day, and instruction on the Sustained Attention to Response Task. Journal of Clinical and Experimental Neuropsychology, 36, 1055-1065.
- Smets, E.M., Garssen, B., Bonke, B. et al. (1995) The Multidi- mensional Fatigue Inventory (MFI) psychometric qualities of an instrument to assess fatigue. Journal of Psychosomatic Research, 39, 315-325.
- Mirsky, A.F., Anthony, B.J., Duncan, C.C. et al. (1991) Analysis of the elements of attention: a neuropsychological approach. Neuropsychology Review, 2, 109-145.
- Rovet, J.F. & Hepworth, S. (2001) Attention problems in adoles- cents with congenital hypothyroidism: a multicomponential anal- ysis. Journal of the International Neuropsychological Society, 7, 734-744.
- Song, S.I., Daneman, D. & Rovet, J. (2001) The influence of eti- ology and treatment factors on intellectual outcome in congeni- tal hypothyroidism. Journal of Developmental and Behavioral Pediatrics, 22, 376-384.
- Joustra, S.D., Meijer, O.C., Heinen, C.A. et al. (2015) Spatial and temporal expression of immunoglobulin superfamily mem- ber 1 in the rat. Journal of Endocrinology, 226, 181-191.
- Katidou, M., Vidaki, M., Strigini, M. et al. (2008) The immunoglobulin superfamily of neuronal cell adhesion mole- cules: lessons from animal models and correlation with human disease. Biotechnology Journal, 3, 1564-1580.
- Hauser, P., Zametkin, A.J., Martinez, P. et al. (1993) Attention deficit-hyperactivity disorder in people with generalized resis- tance to thyroid hormone. New England Journal of Medicine, 328, 997-1001.
Cited by
Sorted by citations
Central hypothyroidism — a neglected thyroid disorder
Beck-Peccoz, P., Rodari, G., Giavoli, C., & Lania, A. (2017) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2017.47 · Cited by 140 · see citing works
IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management
Joustra, S. D., Heinen, C. A., Schoenmakers, N., Bonomi, M., Ballieux, B. E. P. B., Turgeon, M.-O., Bernard, D. J., Fliers, E., van Trotsenburg, A. S. P., Losekoot, M., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-3880 · Cited by 91 · see citing works
Self-citationNaafs, J. C., Marchal, J. P., Fliers, E., Verkerk, P. H., Luijten, M. A. J., Boelen, A., van Trotsenburg, A. S. P., & Zwaveling-Soonawala, N. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa901 · Cited by 21 · see citing works
Self-citation
- Authors
- Joustra, S. D., Andela, C. D., Oostdijk, W., van Trotsenburg, A. S. P., Fliers, E., Wit, J. M., Pereira, A. M., Middelkoop, H. A. M., & Biermasz, N. R.
- Affiliations
- Leiden University Medical Center (NL)
- Department of Pediatric Endocrinology Emma Children's Hospital Academic Medical Center University of Amsterdam Amsterdam The Netherlands
- Amsterdam UMC Location University of Amsterdam (NL)
- Leiden University (NL)
- Corresponding author
- Joustra, S.D.
- ORCID
- Venue
- Clinical Endocrinology
- Publisher
- Wiley
- Published
- 2015-10-15
- Volume
- 84
- Issue
- 6
- Pages
- 896-903
- ISSN
- 0300-0664 (ISSN-L)
- 1365-2265
- OpenAlex
- W2121398740
- Cited by
- 21
- References
- 2
- Citations by year
- 2025: 1 · 2024: 1 · 2022: 1 · 2021: 1 · 2020: 2 · 2019: 3 · 2018: 5 · 2017: 3 · 2016: 4
- FWCI
- 3.48
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Clinical Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion, other-oa)
- Leiden Repository (Leiden University) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Keywords
- central hypothyroidism, attentional control, executive function, cognitive impairment, levothyroxine replacement therapy, mental fatigue, health-related quality of life, memory, X-linked disorders, adult male patient
- MeSH terms
- Adolescent, Adult, Aged, Attention, Attention Deficit Disorder with Hyperactivity, Humans, Hypothyroidism, Immunoglobulins, Male, Membrane Proteins, Memory, Middle Aged, Netherlands, Neuropsychological Tests, Quality of Life, Surveys and Questionnaires, Thyroxine, Case-Control Studies, Young Adult, Executive Function
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
