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Article ; Online: Fatigue in young patients with acquired brain injury in the outpatient rehabilitation setting: A 2-year follow-up study.

Allonsius, Florian / Markus-Doornbosch, Frederike van / de Kloet, Arend / Opschoor, Daniël / Vliet Vlieland, Thea / Holst, Menno van der

Neuropsychological rehabilitation

2024 , Page(s) 1–23

Abstract: Acquired brain injury (ABI) may cause fatigue and participation restrictions in young patients. However, knowledge regarding the course of these problems over time is lacking. This study aims to describe the course of fatigue and participation and their ... ...

Abstract	Acquired brain injury (ABI) may cause fatigue and participation restrictions in young patients. However, knowledge regarding the course of these problems over time is lacking. This study aims to describe the course of fatigue and participation and their relationship over time in an observational two-year follow-up study among patients(5-24 years) with ABI referred for outpatient rehabilitation and their parents. Patients/parents completed the PedsQL™Multidimensional-Fatigue-Scale(PedsQL™MFS, totalscore/3-domains) and the Child/Adolescent-Scale of Participation(CASP, totalscore/4-domains). Scores ranged from 0-100: lower scores = more fatigue/participation problems. Linear mixed models and repeated measures correlations were used to determine the course over time (change-scores/95%CI) and correlations between fatigue/participation. At baseline, 223 patients/246 parents participated with 94/104 at either T1, T2 or both. Median age was 15 years (IQR:12-17), 74% had a traumatic brain injury. Mean(SD) patient/parent-reported PedsQL™MFS totalscores(baseline) were: 50.3(17.3) and 53.8(19.1), respectively. CASP totalscores were 78.0(16.4) and 87.1(13.6). Over time, patient-reported scores improved significantly (fatigue: + 8.8 (2.9;14.7),
Language	English
Publishing date	2024-01-04
Publishing country	England
Document type	Journal Article
ZDB-ID	1080508-4
ISSN	1464-0694 ; 0960-2011
ISSN (online)	1464-0694
ISSN	0960-2011
DOI	10.1080/09602011.2023.2298628
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Article ; Online: Rationale and description of BrainLevel: Computerized repeated practice with strategy use instruction for children with acquired brain injury.

Resch, Christine / Hurks, Petra / de Kloet, Arend / van Heugten, Caroline

Clinical rehabilitation

2021 Volume 35, Issue 6, Page(s) 787–800

Abstract: Objective: In this paper, we provide the rationale behind and a description of BrainLevel, a new cognitive rehabilitation intervention for children with acquired brain injury.: Rationale: Children with acquired brain injury frequently report ... ...

Abstract	Objective: In this paper, we provide the rationale behind and a description of BrainLevel, a new cognitive rehabilitation intervention for children with acquired brain injury. Rationale: Children with acquired brain injury frequently report cognitive problems and consequently problems in participation, psychosocial functioning, family functioning and quality of life. Computerized repeated practice of specific cognitive tasks (so-called 'brain training') improves performance on those specific or highly similar tasks, but rarely leads to better daily life functioning. Adding strategy use instruction as an intervention component, with the aim to transfer task-specific effects to other contexts, may yield positive effects on cognitive and daily life functioning of children with acquired brain injury. Description of the new intervention: In BrainLevel, computerized repeated practice is offered via the online training programme BrainGymmer. For the strategy use instruction, we developed a protocol to provide and practice function-specific and metacognitive strategies. The intervention period is 6 weeks, during which children train five times per week for 30 minutes per day at home with BrainGymmer. Additionally, they attend a weekly 45-minute strategy use instruction session on the basis of our protocol with a cognitive rehabilitation specialist. Discussion: BrainLevel is innovative in combining computerized repeated practice with strategy use instruction as cognitive rehabilitation for children with acquired brain injury. Currently, we are investigating the effectiveness of BrainLevel. In this paper, possible adaptations to tailor BrainLevel to other games or contexts, or to incorporate novel scientific insights, for example regarding optimal intervention duration and intensity, are discussed.
MeSH term(s)	Adolescent ; Brain Injuries/rehabilitation ; Child ; Cognitive Dysfunction/rehabilitation ; Female ; Humans ; Male ; Quality of Life ; Video Games/psychology
Language	English
Publishing date	2021-02-01
Publishing country	England
Document type	Journal Article
ZDB-ID	639276-3
ISSN	1477-0873 ; 0269-2155
ISSN (online)	1477-0873
ISSN	0269-2155
DOI	10.1177/0269215521989652
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Zs.A 2297: Show issues

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Article ; Online: A longitudinal follow-up study of parent-reported family impact and quality of life in young patients with traumatic and non-traumatic brain injury.

Allonsius, F / de Kloet, A J / van Markus-Doornbosch, F / Vliet Vlieland, T P M / van der Holst, M

Disability and rehabilitation

2023 , Page(s) 1–11

Abstract: Purpose: Brain injuries (traumatic-/nontraumatic, TBI/nTBI) in young patients may lead to problems e.g., decreased health-related quality of life (HRQoL), and causes family impact. Knowledge regarding the family impact and the relationship with patients' ...

Abstract	Purpose: Brain injuries (traumatic-/nontraumatic, TBI/nTBI) in young patients may lead to problems e.g., decreased health-related quality of life (HRQoL), and causes family impact. Knowledge regarding the family impact and the relationship with patients' HRQoL over time is scarce. This follow-up study describes family impact/HRQoL and their mutual relationship in young patients (5-24 years) after TBI/nTBI. Materials and methods: Parents of patients that were referred to outpatient rehabilitation completed the PedsQL™Family-Impact-Module questionnaire to assess the family impact and the parent-reported PedsQL™Generic-core-set-4.0 to assess patients' HRQoL (lower scores: more family impact/worse HRQoL). Questionnaires were completed at the time of referral to rehabilitation (baseline) and one/two years later (T1/T2). Linear-mixed models were used to examine family impact/HRQoL change scores, and repeated-measure correlations (r) to determine longitudinal relationships. Results: Two-hundred-forty-six parents participated at baseline, 72 (at T2), median patient's age at baseline was 14 years (IQR:11-16), and 181 (74%) had TBI. Mean (SD) PedsQL™Family-Impact-Module score at baseline was 71.7 (SD:16.4) and PedsQL™Generic-core-set-4.0: 61.4 (SD:17.0). Over time, PedsQL™Family-Impact-Module scores remained stable, while PedsQL™Generic-core-set-4.0 scores improved significantly( Conclusions: Family impact does not tend to decrease over time but remained a considerable problem, although patients' HRQoL improved. Next to focusing on patients' HRQoL, it remains important to consider family impact and offer family support throughout rehabilitation.IMPLICATIONS FOR REHABILITATIONThis longitudinal study found that in young patients with traumatic brain injury (TBI) or non-traumatic brain injury (nTBI) referred for rehabilitation there is a considerable impact on the family until two years after referral, whereas the patients' health-related quality of life (HRQoL) improved significantly.Improvements in patients' quality of life status may not automatically lead to a decrease of family impact.Rehabilitation clinicians should monitor the impact on the family over time and provide long-term family support with special attention to parental worrying when needed.Clinicians should be aware that, despite significant differences between the clinical characteristics of patients with TBI and nTBI, the courses of family impact are very similar.
Language	English
Publishing date	2023-06-09
Publishing country	England
Document type	Journal Article
ZDB-ID	1104775-6
ISSN	1464-5165 ; 0963-8288
ISSN (online)	1464-5165
ISSN	0963-8288
DOI	10.1080/09638288.2023.2218657
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Zs.A 1569: Show issues

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Article ; Online: Fatigue in young patients with acquired brain injury in the rehabilitation setting: Categorizing and interpreting fatigue severity levels.

Allonsius, Florian / van Markus-Doornbosch, Frederike / de Kloet, Arend / Lambregts, Suzanne / Vliet Vlieland, Thea / van der Holst, Menno

Developmental neurorehabilitation

2022 Volume 25, Issue 8, Page(s) 542–553

Abstract: Purpose: Fatigue in patients with acquired brain injury (ABI) is common. However, to better target fatigue, clear ways to categorize/interpret fatigue-severity in individual patients are lacking. This study aims to determine/categorize fatigue severity ... ...

Abstract	Purpose: Fatigue in patients with acquired brain injury (ABI) is common. However, to better target fatigue, clear ways to categorize/interpret fatigue-severity in individual patients are lacking. This study aims to determine/categorize fatigue severity among children, adolescents, and young adults with ABI. Methods: This cross-sectional study included young patients admitted to outpatient rehabilitation and their parents. To determine fatigue, the PedsQL™Multidimensional-Fatigue-Scale was used (MFS, scores 0-100, lower scores = higher fatigue, patient-/parent-reported). Based on scores from a reference population, four categories were formed: "1 = no/little fatigued" to "4 = severely-more fatigued." Results: All scores were lower than those from the reference population, with comparisons in the adolescent and young adult groups reaching statistical significance (p < .05). The proportions of patients in category 4 were: 9%/50%/58% among children/adolescents/young adults, showing that many patients were "severely-more fatigued"-than the reference population. Conclusions: Measuring fatigue and categorizing fatigue severity looks promising for clinical practice and could help to better target fatigue.
MeSH term(s)	Adolescent ; Brain Injuries/complications ; Child ; Cross-Sectional Studies ; Fatigue ; Humans ; Outpatients ; Parents ; Quality of Life ; Young Adult
Language	English
Publishing date	2022-07-26
Publishing country	England
Document type	Journal Article
ZDB-ID	2280007-4
ISSN	1751-8431 ; 1751-8423
ISSN (online)	1751-8431
ISSN	1751-8423
DOI	10.1080/17518423.2022.2099994
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Zs.A 5416: Show issues

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Article ; Online: CDCA7-associated global aberrant DNA hypomethylation translates to localized, tissue-specific transcriptional responses.

Vukic, Maja / Chouaref, Jihed / Della Chiara, Veronica / Dogan, Serkan / Ratner, Fallon / Hogenboom, Jenna Z M / Epp, Trevor A / Chawengsaksophak, Kallayanee / Vonk, Kelly K D / Breukel, Cor / Ariyurek, Yavuz / San Leon Granado, David / Kloet, Susan L / Daxinger, Lucia

Science advances

2024 Volume 10, Issue 6, Page(s) eadk3384

Abstract: Disruption of cell division cycle associated 7 (CDCA7) has been linked to aberrant DNA hypomethylation, but the impact of DNA methylation loss on transcription has not been investigated. Here, we show that CDCA7 is critical for maintaining global DNA ... ...

Abstract	Disruption of cell division cycle associated 7 (CDCA7) has been linked to aberrant DNA hypomethylation, but the impact of DNA methylation loss on transcription has not been investigated. Here, we show that CDCA7 is critical for maintaining global DNA methylation levels across multiple tissues in vivo. A pathogenic
MeSH term(s)	DNA ; DNA Methylation ; Protein Isoforms/genetics ; Repressor Proteins/genetics ; Transcription Factors/genetics ; Animals ; Mice ; Cell Cycle Proteins/metabolism ; Nuclear Proteins/metabolism
Chemical Substances	DNA (9007-49-2) ; Protein Isoforms ; Repressor Proteins ; Transcription Factors ; cdca7 protein, mouse ; Cell Cycle Proteins ; Nuclear Proteins
Language	English
Publishing date	2024-02-09
Publishing country	United States
Document type	Journal Article
ZDB-ID	2810933-8
ISSN	2375-2548 ; 2375-2548
ISSN (online)	2375-2548
ISSN	2375-2548
DOI	10.1126/sciadv.adk3384
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Article ; Online: Acquisition of a glycosylated B-cell receptor drives follicular lymphoma toward a dark zone phenotype.

van Bergen, Cornelis A M / Kloet, Susan L / Quinten, Edwin / Sepúlveda Yáñez, Julieta H / Menafra, Roberta / Griffioen, Marieke / Jansen, Patty M / Koning, Marvyn T / Knijnenburg, Jeroen / Navarrete, Marcelo A / Kiełbasa, Szymon M / Veelken, Hendrik

Blood advances

2023 Volume 7, Issue 19, Page(s) 5812–5816

Language	English
Publishing date	2023-07-24
Publishing country	United States
Document type	Journal Article
ZDB-ID	2915908-8
ISSN	2473-9537 ; 2473-9529
ISSN (online)	2473-9537
ISSN	2473-9529
DOI	10.1182/bloodadvances.2023010725
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Zs.A 7153: Show issues

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Article ; Online: Late endocrine effects after hematopoietic stem cell transplantation in children with nonmalignant diseases.

de Kloet, L C / Bense, J E / van der Stoep, M Y E C / Louwerens, M / von Asmuth, E G J / Lankester, A C / de Pagter, A P J / Hannema, S E

Bone marrow transplantation

2022 Volume 57, Issue 10, Page(s) 1564–1572

Abstract: The number of children undergoing hematopoietic stem cell transplantation (HSCT) for nonmalignant diseases has increased in recent years. Endocrine complications are common after HSCT for malignant diseases, while little is known about long-term ... ...

Abstract	The number of children undergoing hematopoietic stem cell transplantation (HSCT) for nonmalignant diseases has increased in recent years. Endocrine complications are common after HSCT for malignant diseases, while little is known about long-term prevalence and risk factors in children transplanted for nonmalignant diseases. We retrospectively evaluated gonadal function, near adult height and thyroid function in 197 survivors of pediatric HSCT for hemoglobinopathies (n = 66), inborn errors of immunity/metabolism (n = 74) and bone marrow failure disorders (n = 57); median follow-up was 6.2 years (range 3.0-10.5). Gonadal dysfunction occurred in 55% of (post)pubertal females, was still present at last assessment in 43% and was more common after busulfan- than treosulfan-based conditioning (HR 10.6, CI 2.2-52.7; adjusted for HSCT indication). Gonadal dysfunction occurred in 39% of (post)pubertal males, was still present at last assessment in 32% and was less common in those who were prepubertal compared to (post)pubertal at HSCT (HR 0.11; CI 0.05-0.21). Near adult height was more than 2 SDS below mean parental height in 21% of males and 8% of females. Hypothyroidism occurred in 16% of patients; 4% received thyroxin treatment. In conclusion, endocrine complications, especially gonadal dysfunction, are common after pediatric HSCT for nonmalignant conditions. In females, treosulfan seems less gonadotoxic than busulfan. Careful long-term endocrine follow-up is indicated.
MeSH term(s)	Adult ; Busulfan/adverse effects ; Busulfan/analogs & derivatives ; Child ; Female ; Hematopoietic Stem Cell Transplantation/adverse effects ; Humans ; Male ; Retrospective Studies ; Thyroxine ; Transplantation Conditioning/adverse effects
Chemical Substances	treosulfan (CO61ER3EPI) ; Busulfan (G1LN9045DK) ; Thyroxine (Q51BO43MG4)
Language	English
Publishing date	2022-07-15
Publishing country	England
Document type	Journal Article
ZDB-ID	632854-4
ISSN	1476-5365 ; 0268-3369 ; 0951-3078
ISSN (online)	1476-5365
ISSN	0268-3369 ; 0951-3078
DOI	10.1038/s41409-022-01755-x
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Zs.A 2168: Show issues

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Article ; Online: The variability conundrum in neurometabolic degenerative diseases.

van Karnebeek, Clara D M / Richmond, Phillip A / van der Kloet, Frans / Wasserman, Wyeth W / Engelen, Marc / Kemp, Stephan

Molecular genetics and metabolism

2020 Volume 131, Issue 4, Page(s) 367–369

MeSH term(s)	Age of Onset ; Humans ; Infant, Newborn ; Metabolic Diseases/complications ; Metabolic Diseases/diagnosis ; Metabolic Diseases/epidemiology ; Metabolic Diseases/genetics ; Neonatal Screening ; Neurodegenerative Diseases/complications ; Neurodegenerative Diseases/diagnosis ; Neurodegenerative Diseases/epidemiology ; Neurodegenerative Diseases/genetics
Language	English
Publishing date	2020-11-06
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1418518-0
ISSN	1096-7206 ; 1096-7192
ISSN (online)	1096-7206
ISSN	1096-7192
DOI	10.1016/j.ymgme.2020.11.002
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Zs.A 617: Show issues

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Article ; Online: The Genomes of the Livebearing Fish Species Poeciliopsis retropinna and Poeciliopsis turrubarensis Reflect Their Different Reproductive Strategies.

van Kruistum, Henri / Guernsey, Michael W / Baker, Julie C / Kloet, Susan L / Groenen, Martien A M / Pollux, Bart J A / Megens, Hendrik-Jan

Molecular biology and evolution

2020 Volume 37, Issue 5, Page(s) 1376–1386

Abstract: The evolution of a placenta is predicted to be accompanied by rapid evolution of genes involved in processes that regulate mother-offspring interactions during pregnancy, such as placenta formation, embryonic development, and nutrient transfer to ... ...

Abstract	The evolution of a placenta is predicted to be accompanied by rapid evolution of genes involved in processes that regulate mother-offspring interactions during pregnancy, such as placenta formation, embryonic development, and nutrient transfer to offspring. However, these predictions have only been tested in mammalian species, where only a single instance of placenta evolution has occurred. In this light, the genus Poeciliopsis is a particularly interesting model for placenta evolution, because in this genus a placenta has evolved independently from the mammalian placenta. Here, we present and compare genome assemblies of two species of the livebearing fish genus Poeciliopsis (family Poeciliidae) that differ in their reproductive strategy: Poeciliopsis retropinna which has a well-developed complex placenta and P. turrubarensis which lacks a placenta. We applied different assembly strategies for each species: PacBio sequencing for P. retropinna (622-Mb assembly, scaffold N50 of 21.6 Mb) and 10× Genomics Chromium technology for P. turrubarensis (597-Mb assembly, scaffold N50 of 4.2 Mb). Using the high contiguity of these genome assemblies and near-completeness of gene annotations to our advantage, we searched for gene duplications and performed a genome-wide scan for genes evolving under positive selection. We find rapid evolution in major parts of several molecular pathways involved in parent-offspring interaction in P. retropinna, both in the form of gene duplications as well as positive selection. We conclude that the evolution of the placenta in the genus Poeciliopsis is accompanied by rapid evolution of genes involved in similar genomic pathways as found in mammals.
MeSH term(s)	Animals ; Cyprinodontiformes/genetics ; Female ; Gene Duplication ; Genome ; Life History Traits ; Male ; Placenta ; Pregnancy ; Selection, Genetic ; Viviparity, Nonmammalian/genetics
Language	English
Publishing date	2020-01-17
Publishing country	United States
Document type	Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	998579-7
ISSN	1537-1719 ; 0737-4038
ISSN (online)	1537-1719
ISSN	0737-4038
DOI	10.1093/molbev/msaa011
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Zs.A 2137: Show issues

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Article ; Online: Genetic variation of the mineralocorticoid receptor gene (MR, NR3C2) is associated with a conceptual endophenotype of "CRF-hypoactivity".

Kumsta, Robert / Kliegel, David / Linden, Michael / DeRijk, Roel / de Kloet, E Ron

Psychoneuroendocrinology

2018 Volume 105, Page(s) 79–85

Abstract: Recently, the "conceptual endophenotype" approach has been proposed as a means to identify subgroups of patients affected by stress-related psychiatric disorders. Conceptual endophenotypes consist of patterns of psychological, biological, and symptomatic ...

Abstract	Recently, the "conceptual endophenotype" approach has been proposed as a means to identify subgroups of patients affected by stress-related psychiatric disorders. Conceptual endophenotypes consist of patterns of psychological, biological, and symptomatic elements. We studied a sample of patients seeking help for psychosomatic and stress-related disorders (total N = 469), who were evaluated with a diagnostic instrument that integrates psychological and biological data to derive 13 endophenotypes, or Neuropattern. The goal of this study was to explore associations between common variations of the mineralocorticoid receptor gene (MR, NR3C2), and the 13 conceptual endophenotypes of Neuropattern, as well as with the respective biological and symptom measures. A common haplotype of the MR, comprised of two functional single nucleotide polymorphism (rs2070951 G/C & rs5522 A/G), was associated with the conceptual endophenotype CRF-hypoactivity, characterized by low cortisol levels at awakening and a symptom constellation often observed in atypical depression. Homozygous carriers of the G-A haplotype (haplotype 1), previously associated with reduced dispositional optimism, increased levels of rumination and higher risk for depression, more frequently endorsed this Neuropattern. In addition to the overall association between MR variation and CRF hypoactivity, we observed in the whole sample significant associations between MR haplotypes and cortisol awakening response patterns, as well as with symptoms that characterize the CRF hypoactivity endophenotype. If replicated, MR haplotype 1 might serve as a vulnerability marker for a disorder class characterized in biological terms by reduced cortisol levels, and in terms of symptom constellation by features often observed in atypical depression.
MeSH term(s)	Adolescent ; Adult ; Aged ; Corticotropin-Releasing Hormone/metabolism ; Depressive Disorder/diagnosis ; Depressive Disorder/genetics ; Depressive Disorder/metabolism ; Depressive Disorder/physiopathology ; Endophenotypes ; Female ; Haplotypes ; Humans ; Hydrocortisone/metabolism ; Male ; Middle Aged ; Receptors, Mineralocorticoid/genetics ; Young Adult
Chemical Substances	NR3C2 protein, human ; Receptors, Mineralocorticoid ; Corticotropin-Releasing Hormone (9015-71-8) ; Hydrocortisone (WI4X0X7BPJ)
Language	English
Publishing date	2018-09-27
Publishing country	England
Document type	Journal Article
ZDB-ID	197636-9
ISSN	1873-3360 ; 0306-4530
ISSN (online)	1873-3360
ISSN	0306-4530
DOI	10.1016/j.psyneuen.2018.09.036
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