Aad Tibben

Aad Tibben
Leiden University Medical Centre | LUMC · Department of Clinical Genetics

PhD

About

253
Publications
22,748
Reads
How we measure 'reads'
A 'read' is counted each time someone views a publication summary (such as the title, abstract, and list of authors), clicks on a figure, or views or downloads the full-text. Learn more
9,281
Citations
Citations since 2017
25 Research Items
2580 Citations
20172018201920202021202220230100200300400
20172018201920202021202220230100200300400
20172018201920202021202220230100200300400
20172018201920202021202220230100200300400

Publications

Publications (253)
Article
Full-text available
Pre-symptomatic frontotemporal dementia (FTD) mutation carriers and first-degree family members that are 50% at-risk for FTD may experience symptoms of anxiety and depression as a result of the ambiguity of when or if symptoms of the disease will manifest. We conducted a pilot study to investigate the use of an online mindfulness-based stress reduc...
Article
Full-text available
In debates about genetic testing of children, as well as about disclosing unsolicited findings (UFs) of pediatric exome sequencing, respect for future autonomy should be regarded as a prima facie consideration for not taking steps that would entail denying the future adult the opportunity to decide for herself about what to know about her own genom...
Article
In a previous study we found that parents of children with developmental delay (DD) favoured acceptance of unsolicited findings (UFs) for medically actionable conditions in childhood, but that preferences diverged for UFs with no medical actionability, or only in adulthood, and regarding carrier status. Sometimes the child’s future autonomy formed...
Article
Background The goal of postmastectomy breast reconstruction (BR) is to improve the quality of life of patients. However, complications following autologous BR (A-BR) and implant-based BR (I-BR) occur frequently and may even lead to BR-failure, which can be a distressing event for both patients and surgeons. The current study, therefore, examines th...
Article
Full-text available
The noninvasive prenatal test (NIPT) as the first trimester prenatal screening (FTS) for trisomies 21, 18, and 13 is offered to all pregnant women in the Netherlands. NIPT using genome sequencing allows for an expansion of the scope of FTS and the introduction of NIPT gives rise to ethical and societal concerns about deliberated decision‐making, pr...
Article
Testing options for pregnant women at increased risk of common aneuploidies are non-invasive prenatal testing (NIPT) and invasive prenatal diagnosis (PND). Clinicians are challenged to comprehensively discuss the complex information in a patient-centered and non-directive manner, to allow for patients’ informed decision-making. This study explored...
Article
Objectif Cette étude a pour objectif de développer une échelle évaluant les attitudes positives et négatives vis-à-vis des tests génétiques, applicable dans différents contextes, et d’en faire une validation psychométrique dans le cas de la mutation BRCA1/2 au sein d’un échantillon de médecins français non spécialisés en génétique. Méthodes Les do...
Article
Objective Reproductive decision‐making for couples with hereditary breast and ovarian cancer (HBOC) is complex and can result in decisional conflict or ‐regret. This study investigated couples’ support needs and aimed to identify vulnerable couples. Ultimately we should strive to develop a clear standard of care guideline regarding reproductive dec...
Article
Background/aims: Pediatric rare disease presents a challenging situation of high unmet need and a limited pool of potential clinical trial participants. Understanding perspectives of parents of children who have not participated in trials may facilitate approaches to optimize participation rates. The objective of this study was to explore factors...
Article
Follow-up studies on predictive testing for hereditary neurodegenerative diseases mainly focussed on psychological outcomes. We investigated whether the social and personal life of mutation carriers differ negatively from non-carriers and untested at-risk individuals. Asymptomatic individuals (≥ 35 years) who received a genetic test result for Hunt...
Article
Full-text available
Care guidelines for Duchenne/Becker muscular dystrophy (DBMD) include recommendations for assessment of caregivers of patients with DBMD followed by proactive psychosocial interventions. To inform clinical assessment, this study described appraisals of psychosocial needs and caregiving facilitators of mothers of individuals with DBMD. Two hundred a...
Article
Full-text available
Developments in prenatal testing allow the detection of more findings. SNP arrays in prenatal diagnosis (PND) can be analyzed at 0.5 Mb resolution detecting more clinically relevant anomalies, or at 5 Mb resolution. We investigated whether women had sufficient knowledge to make informed choices regarding the scope of their prenatal test that were c...
Article
Full-text available
Objective To develop a generic scale for assessing attitudes towards genetic testing and to psychometrically assess these attitudes in the context of BRCA1/2 among a sample of French general practitioners, breast specialists and gyneco-obstetricians. Study design and setting Nested within the questionnaire developed for the European InCRisC (Inter...
Article
Full-text available
Background Substantial complication rates after postmastectomy breast reconstruction (BR) in breast cancer patients have been reported. Few studies have reported on the resulting psychological distress (PD) and satisfaction with the aesthetic result in relation to postoperative complications after completion of implant or DIEP flap BR. The present...
Data
Item wording of the Hospital Anxiety and Depression Scale. (PDF)
Data
Item wording of the Impact of Event Scale. (PDF)
Data
Multilevel models with additional surgery and total reconstruction failure as predictors of psychological distress in women undergoing BR and the covariates reconstruction type, radio therapy and age. (PDF)
Data
Excel additional calculation file. (XLS)
Article
Study question: To what extent are BRCA mutation carriers and their partners in the Netherlands aware about preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) as reproductive options and what is their attitude towards these options? Summary answer: Awareness of PGD (66%) and PND (61%) among BRCA mutation carriers and their part...
Chapter
Predictive or presymptomatic genetic testing enables individuals at risk for a hereditary late-onset disease to learn about their genetic status before symptoms have appeared. The predictive testing protocol for Huntington disease (HD) safeguards the interests of test candidates and has served as a model for other diseases. Most people seen for gen...
Article
Parents' preferences for unsolicited findings (UFs) from diagnostic whole-exome sequencing (WES) for their children remain largely unexplored. Our aim was to gain insight into parental considerations favoring acceptance/decline of UFs pertaining to their child. We conducted 20 qualitative, semistructured interviews with parents (n=34) of children w...
Article
Full-text available
Genomic microarray may detect susceptibility loci (SL) for neurodevelopmental disorders such as autism and epilepsy, with a yet unquantifiable risk for the fetus. The prenatal disclosure of susceptibility loci is a topic of much debate. Many health care professionals fear that reporting susceptibility loci may put a psychological burden on pregnant...
Article
Objective: This interview study explored clinicians' perspectives and parents' decision making about children's participation in Duchenne muscular dystrophy (DMD) clinical trials. Methods: Data from semi-structured interviews conducted with clinicians and parents in U.S. or Canada were assessed using thematic analysis. Results: Eleven clinicia...
Article
Methods: An International Cancer Risk Communication Study (InCRisC) questionnaire, previously used to assess attitudes of European physicians and surgeons was sent to 2648 members. Personal and occupational characteristics were recorded and knowledge of cancer genetics and attitudes to BRRM were assessed using clinical vignettes. Results: 439 br...
Article
Full-text available
Duchenne and Becker muscular dystrophy (DBMD) cause significant emotional and care-related burden on caregivers, but no studies have evaluated predictors of positive caregiver outcomes, including disorder-specific psychological adaptation. Using a community-engaged approach focused on supporting mothers in positive aspects of caregiving, this prosp...
Article
Full-text available
Background No information is available on the attitudes of General Practitioners (GPs) and Breast Surgeons (BSs) to their delivery of genetic, environmental and lifestyle risk factor information about breast cancer. The aim of this study was to describe the Breast Cancer Risk Communication Behaviours (RCBs) reported by GPs and BSs in four European...
Article
Full-text available
This paper contains a summary and the recommendations of a joint European Society of Human Genetics (ESHG)/American Society of Human Genetics (ASHG) position statement on responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). This statement was drafted by the Public and Professional Policy Committee of the ESHG and...
Article
Full-text available
This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achiev...
Article
Full-text available
Predictive genetic testing for a neurogenetic disorder evokes strong emotions, and may lead to distress. The aim of this study is to investigate whether attachment style and emotion regulation strategies are associated with distress in persons who present for predictive testing for a neurogenetic disorder, and whether these psychological traits pre...
Article
Introduction: Industry, clinicians, advocacy, and families have a stake in the success of clinical trials (CTs). Understanding decision-makers’ perceptions of CTs inform efforts to improve recruitment; this is particularly relevant for rare diseases like Duchenne/Becker muscular dystrophy (DBMD). Methods: The study team employed a community-based p...
Conference Paper
Introduction: Parents’ decisions about enrolling children in Duchenne/Becker muscular dystrophy (DBMD) clinical trials (CTs) may be influenced by hopes and expectations, which when unrealistic may challenge informed consent. We explore influences on decision-making. Methods: The study team employed a community-based participatory research approach....
Article
The aim of this study was to investigate the presence of thoughts or wishes for the end of life in patients with Huntington's disease (HD) or identified gene carriers (further mentioned together as patients). A custom-made questionnaire, based on previous qualitative research, was sent out to 242 patients with HD and identified gene carriers. Prese...
Article
Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by a combination of motor abnormalities (chorea, dystonia, hypokinesia), cognitive impairment and neuropsychiatric symptoms, including depression, irritability and apathy. The age at onset is typically 35–45 years but it can present in juveniles and the elderly.1 The...
Article
Objective Genomic array detects more pathogenic chromosome aberrations than conventional karyotyping (CK), including genetic variants associated with a susceptibility for neurodevelopmental disorders; susceptibility loci (SL). Consensus regarding the scope of invasive prenatal diagnosis (PND) pregnant couples should be offered is lacking. This stud...
Conference Paper
Full-text available
Background We implemented whole genome SNP array instead of conventional karyotyping (CK) for prenatal diagnosis (PND). Array detects more clinically relevant anomalies and more genetic anomalies of yet unquantified risk for neurodevelopmental disorders, so-called susceptibility loci (SL). Using SNP array ensues the question whether pregnant couple...
Article
Full-text available
Pregnant couples tend to prefer a maximum of information about the health of their fetus. Therefore, we implemented whole genome microarray instead of conventional karyotyping (CK) for all indications for prenatal diagnosis (PND). The array detects more clinically relevant anomalies, including early onset disorders, not related to the indication...
Article
Full-text available
How do couples with a BRCA1/2 mutation decide on preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) for hereditary breast and ovarian cancer syndrome (HBOC)? BRCA couples primarily classify PGD and/or PND as reproductive options based on the perceived severity of HBOC and moral considerations, and consequently weigh the few import...
Article
This fourth edition of Huntington's disease presents a comprehensive summary of the current knowledge of this disease, including the major scientific and clinical advances that have occurred since publication of the third edition in 2002. Completely updated and expanded, chapters in this volume are organized in five sections, which include clinical...
Article
Prospective studies regarding the psychosexual impact after different types of breast reconstruction (BR) are scarce. The impact of either implant or deep inferior epigastric artery perforator (DIEP) flap BR on body image and sexual relationship satisfaction was investigated in time. At baseline, 98 women opting for delayed implant or DIEP flap BR...
Article
Full-text available
The social context of rare disease research is changing, with increased community engagement around drug development and clinical trials. This engagement may benefit patients and families but may also lead to heightened trial expectations and therapeutic misconception. Clinical investigators are also susceptible to harboring high expectations. Litt...
Article
Full-text available
Genetic testing has its greatest public health value when it identifies individuals who will benefit from specific interventions based upon their risk. This paradigm is the basis for the use of predictive tests, such as BRCA1/BRCA2 testing which has become part of clinical practice for more than a decade. Currently predictive BRCA1/BRCA2 testing is...
Article
Objective: To investigate childhood experiences and psychological characteristics in offspring of a parent with genetic disease. Method: Self-report scales were used to assess adverse childhood experiences (ACEs), adult attachment style, mental health, and psychological symptomatology in offspring of a parent with a neurogenetic disorder (i.e. H...
Article
Increased community knowledge of and access to clinical trials for Duchenne and Becker muscular dystrophy (DBMD) may amplify adaptive optimism, but also inappropriately high expectations. This study explored parental and clinician motivations and expectations for DBMD clinical trials. We interviewed 15 parents of children with DBMD and 11 clinician...
Conference Paper
Full-text available
Study question How do lesbian parents discuss the donor conception with their school-age children? How is this dialogical process between parents and children described by the parents? Summary answer Some lesbian parents participating in this study seem to wait for their children to ask questions about their conception. This guarantees them that t...
Article
Lynch syndrome (LS), one of the most frequent forms of hereditary colorectal cancer (CRC), is caused by a defect in one of the mismatch repair (MMR) genes. Carriers of MMR defects have a strongly increased risk of developing CRC and endometrial cancer. Over the last few years, value-based healthcare has been introduced as an approach to the cost-ef...
Article
Many cancer-patients undergo DNA testing in the BRCA1/2 genes to receive information about the likelihood that cancer is heritable. Previous nonsystematic studies suggested that DNA testing often does not fulfill the counselees' needs for certainty. We explored the balance between the counselees' need for certainty and perceived certainty (NfC-PC,...
Article
Background: Several studies have shown that counselees do not experience psychopathological levels of distress after DNA test result disclosure. However, it has not systematically been studied whether the absence of psychopathology also means that counselees do not want to receive help. Their self-reported request for help may be related not only...
Article
The diagnosis of Lynch syndrome can lead to the prevention of colorectal cancer through periodic colonoscopies and removal of premalignant lesions in susceptible individuals. Therefore, predisposed individuals identified by mutation analysis are advised to inform their at-risk relatives about the options of predictive DNA testing and preventive mea...
Article
Some women at risk for hereditary breast cancer are at increased risk of psychological distress. In order to tailor support for individual women, the availability of a tool enabling the identification of psychologically vulnerable women at an early stage is warranted. The objectives of this study were (1) to explore long-term psychological distress...
Article
Full-text available
The study reported here presents a detailed description of what it is like to parent a child with juvenile Huntington's disease in families across four European countries. Its primary aim was to develop and extend findings from a previous UK study. The study recruited parents from four European countries: Holland, Italy, Poland and Sweden,. A secon...
Article
BACKGROUND Huntington's disease (HD) is an autosomal dominant neurodegenerative late onset disorder. This review of reproductive options aims to increase reproductive confidence and to prevent suffering in relation to family planning around HD and possibly other late onset neurodegenerative disorders.METHODS Selected relevant literature and own vie...
Article
This study aims to give an overview of the number of prenatal tests for Huntington's disease (HD), test results, and pregnancy outcomes in the Netherlands between 1998 and 2008 and to compare them with available data from the period 1987-1997. A total of 126 couples underwent prenatal diagnosis (PND) on 216 foetuses: 185 (86%) direct tests and 31 (...
Article
Background: In the literature there are few reports on euthanasia or physician-assisted suicide (PAS) or other matters concerning the end-of-life in patients with Huntington's disease (HD), although clinical experience suggests these issues do arise. Objective: To obtain in-depth information about patients' thoughts on and attitudes to euthanasi...
Article
Euthanasia and physician-assisted suicide (PAS) by request and/or based on an advance directive are legal in The Netherlands under strict conditions, thus providing options for patients with Huntington's disease (HD) and other neurodegenerative diseases to stay in control and choose their end of life. HD is an inherited progressive disease characte...
Article
Full-text available
The outcome of bilateral prophylactic mastectomy with breast reconstruction (BPM-IBR) in healthy BRCA1/2 mutation carriers can be potentially burdensome for body image and the intimate relationship. Therefore, in the current analysis the impact on body image, sexual and partner relationship satisfaction was prospectively investigated in women optin...
Article
van Rij MC, de Die-Smulders CEM, Bijlsma EK, de Wert GMWR, Geraedts JP, Roos RAC, Tibben A. Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands. Individuals at 50% risk of Huntington's disease (HD) who prefer not to know their carrier status, might opt for exclusion prenatal d...
Article
Huntington's disease (HD) is a progressive autosomal dominant neurodegenerative disease characterized by chorea, hypokinesia, psychiatric symptoms, and dementia. The age of onset is usually between 30 and 50 years; the duration of illness is from 10–20 years. The rate of suicide in patients is higher than in the general population and is the second...
Article
Presymptomatic testing (PST) is the performance of a genetic test on an asymptomatic individual at risk of a condition to determine whether the person has inherited the disease-causing mutation. Although relevant guidelines exist for specific diseases, there is no overarching protocol that can be adapted to any disorder or clinical setting in which...
Article
Objective To examine the frequency and correlates of skin examination behaviors in an international sample of individuals at varying risk of developing melanoma. Design A cross-sectional, web-based survey. Setting Data were collected from the general population over a 20-month period on behalf of the Melanoma Genetics Consortium (GenoMEL). Particip...
Article
Full-text available
The participation of minors in biobank research can offer great benefits for science and health care. However, as minors are a vulnerable population they are also in need of adequate protective measures when they are enrolled in research. Research using biobanked biological samples from children poses additional ethical issues to those raised by re...
Article
Full-text available
The 1994 predictive test guidelines for Huntington's disease (HD) were published by an ad hoc Committee comprising representatives from the World Federation of Neurology (WFN) and the International Huntington Association (IHA) (1,2) shortly after the gene mutation for HD was identified.
Article
Full-text available
To date, little is known about the psychosocial aspects of preconception consultation (PCC) in primary care. PCC in primary care is appropriate for couples and individuals with a reproductive wish. In PCC, non-genetic and genetic risk factors may be identified. Focusing on non-genetic and genetic risk factors in PCC requires the use of different co...
Article
Individuals at risk for developing hereditary cancer are offered surveillance in order to improve the prognosis. An important question is whether the benefit of surveillance outweighs the psychological burden. In this review, we evaluated all studies that investigated psychological distress and the quality of life in individuals under surveillance...
Article
The objectives of the present study were to (1) evaluate whether social and personal resources were independently related to psychological distress and (2) examine the interrelationships of social and personal resources in women at risk for hereditary breast cancer. General and breast cancer specific distress, family communication regarding heredit...
Article
It has been hypothesized that the Outcomes of DNA testing (O) are better predicted and/or mediated by the counselees' Perception P) than by the actually communicated genetic Information (I). In this study, we aimed at quantifying the effect that perception has in genetic counseling for hereditary breast/ovarian cancer. Two hundred and four women, w...
Article
Full-text available
Hereditary breast cancer has a profound impact on individual family members and on their mutual communication and interactions. The way at-risk women cope with the threat of hereditary breast cancer may depend on the quality of family communication about hereditary breast cancer and on the perceived social support from family and friends. Objective...
Article
To explore the course of psychological distress and body image at long-term follow-up (6-9 years) after prophylactic mastectomy and breast reconstruction (PM/BR) in women at risk for hereditary breast cancer, and to identify pre-PM risk factors for poor body image on the long-term. Psychological distress (general and breast cancer specific) and bod...
Article
Clarification of the role of several aspects of self-concept regarding psychological distress in women at risk of hereditary breast cancer will help to target counselling and psychosocial interventions more appropriately. In this study, we aimed (1) to examine the role of general self-esteem and specific aspects of self-concept (i.e. stigma, vulner...
Article
Few studies have focused on the psychological impact of postoperative complications after breast reconstruction (BR). As postoperative complications after BR usually lead to a prolonged recovery time and sometimes require additional surgery, the short-term impact on distress was investigated. Pre- and postoperatively, psychological questionnaires w...
Article
Van der Meer LB, van Duijn E, Wolterbeek R, Tibben A. Adverse childhood experiences of persons at risk for Huntington's disease or BRCA1/2 hereditary breast/ovarian cancer. Huntington's disease (HD) is known to have a negative impact on family life. Offspring of HD patients may be exposed to adversity in childhood because of the parent's disease an...
Article
Genetic counseling may help counselees understand their genetic risk of developing breast/ovarian cancer. However, many studies have shown that their perception of their risks is inaccurate. Information-oriented variables often predicted the level of accuracy, focusing on specific processes of receiving and processing risks. We examined counselee-o...