S. Tuinier

Vincent van Gogh voor Geestelijke Gezondheidszorg, Venraai, Limburg, Netherlands

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Publications (148)274.55 Total impact

  • Journal of The Acoustical Society of America - J ACOUST SOC AMER. 01/2011;
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    ABSTRACT: Sanfilippo B is a rare autosomal recessive mucopolysaccharidosis (MPS IIIB) caused by a deficiency of N-acetyl-alpha-D-glucosaminidase (NAGLU). A mild mentally retarded elderly female patient is described with a slowly progressive dementia who had given birth to a daughter who developed normally. Metabolic screening revealed an enhanced concentration of heparan sulfate in urine. Enzymatic assay demonstrated deficiency of N-acetyl-alpha-D-glucosaminidase. Mutations in the NAGLU gene were found. One mentally retarded and hospitalized elder brother was also found to have MPS IIIB, whereas a second brother, who had died earlier, is suspected to have had the same metabolic disorder. Prior to the development of dementia, both the patient and her brother showed autistic like features, signs of ideomotor apraxia and weakness in verbal comprehension. Screening for metabolic disorders, in particular MPSes, should always be considered in patients with a history of mental deficit and dementia or progressive functional decline.
    Acta Psychiatrica Scandinavica 08/2010; 122(2):162-5. · 4.86 Impact Factor
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    ABSTRACT: The diagnosis of Rubinstein-Taybi syndrome (RTS) is primarily clinical and based on the characteristic phenotype that is often combined with a variety of somatic anomalies and psychiatric disorders. In this paper, a review is presented of the psychiatric and behavioural aspects of RTS. This is illustrated with a case report. Behavioural aspects of about 150 patients are described, and include a variable degree of mental retardation, impulsivity, distractibility, instability of mood and stereotypies. In general, patients with RTS are described as sociable and friendly. Information about brain pathology is virtually absent. In about half of the cases, the syndrome is caused by a mutation or deletion of the CREB-binding protein (CBP) gene (16p13.3). The case report deals with an adult male who was referred for impulsivity and temper outbursts. A provisional diagnosis of atypical depression was made, and treatment with citalopram resulted in a remarkable amelioration of his mood and behaviour that persisted for more than 2 years (last observation). Patients with undetected genetic syndromes do occur in clinical psychiatry, and the clinician has to consider such disorders in cases with disturbed development, dysmorphias and somatic comorbidity.
    Psychopathology 11/2009; 43(1):63-8. · 1.62 Impact Factor
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    ABSTRACT: Subjects with Down syndrome (DS) have abnormalities in virtually all aspects of the immune system and almost all will be affected with Alzheimer's disease (AD). It is thought that nitric oxide (NO) is involved in the pathophysiology of AD. In the present study, including a total of 401 elderly DS subjects, the spectrum of plasma amino acids and neopterin was investigated and related to development of AD. Concentrations of nearly all amino acids in DS subjects differed significantly from those of healthy controls. Neopterin was increased in DS subjects, especially in dementia. The production of NO as reflected by an increased citrulline/arginine ratio (Cit/Arg ratio) was enhanced during development of clinical dementia. Neopterin concentrations correlated to the Cit/Arg ratio only in the group of prevalent demented subjects (rho = 0.48, P = 0.006). The results of this study are suggestive for an increase in oxidative processes in DS subjects with AD.
    Amino Acids 06/2009; 38(3):923-8. · 3.91 Impact Factor
  • Wim Verbeeck, Siegfried Tuinier, Geertruida E Bekkering
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    ABSTRACT: Stimulant medications are the most effective drugs in the treatment of attention-deficit hyperactivity disorder (ADHD) in children and in adults. However, some patients do not respond to this treatment and other patients suffer from adverse effects. Very often there are also comorbid disorders that warrant treatment or there is somatic comorbidity that precludes the prescription of stimulants. As a result, alternative treatments for the treatment of ADHD have been explored, such as antidepressant agents. In this systematic review the evidence base for the effect of antidepressants for ADHD in adult patients is determined. Electronic and hand searches were conducted in order to identify clinical trials studying antidepressants for the treatment of ADHD in adult patients. The trials were screened for methodological characteristics and treatment-effect sizes. The odds ratio was calculated for randomized controlled trials with bupropion. A descriptive review of all the randomized controlled studies and an overview of the nonrandomized studies was developed. Only eight randomized controlled trials were retrieved with four different compounds. Five studies concerned bupropion and the meta-analysis indicates a beneficial effect for bupropion compared with placebo as measured with the Clinical Global Improvement Scale (odds ratio 2.42 [95% CI 1.09 to 5.36]). Several studies suffer from clinical and methodological shortcomings, such as exclusion of patients with comorbid disorders, short treatment duration, or a lack of information with respect to the randomization procedure. Although there is a need for alternative interventions for the treatment of ADHD, such as with antidepressant agents, the evidence base is not large. Only treatment with bupropion seems to have a medium-range effect size, but this is less than that of stimulant medications.
    Advances in Therapy 03/2009; 26(2):170-84. · 2.44 Impact Factor
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    ABSTRACT: Psychiatric treatment of mentally handicapped patients is still in its infancy because these patients are diagnosed by means of inadequate DSM vignettes that were not developed for such a homogeneous group and that do not have the status of diagnoses based on aetiology and pathophysiology. To raise awareness that the psychiatrist dealing with this group of patients needs to have a thorough knowledge of the syndromes involved which can be accompanied by psychiatric and somatic comorbidity and also needs to have expertise in linked disciplines such as genetics, epileptology and pharmacology. On the basis of the international scientific literature an attempt was made to identify the rationale that underlies the current practice of treating challenging behaviour with a fairly random selection of psychotropics. A diagnostic algorithm was formulated which can help the psychiatrist to provide evidence-based specialised advice on treatment and which can also prevent the occurrence of harm or damage. The top-down orientation of current diagnostic procedures, which tries to link symptoms to an underlying pathology, should be counterbalanced by a bottom-up approach in which the aetiology is the starting point. If this principle is observed, a well-founded proposal about treatment can sometimes be put forward. In all other cases treatment at present is little more than symptomatic pharmacotherapy involving a few well-documented psychotropics.
    Tijdschrift voor psychiatrie 02/2009; 51(3):161-71.
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    ABSTRACT: We report on a mentally retarded female with behavioural problems, microcephaly, mild facial dysmorphisms, short stature and small hands with thin fingers due to a de novo partial duplication within the long arm of chromosome 13(q14.1q21.3). She was primarily referred to the outpatient department of neuropsychiatry because of short lasting psychotic episodes. No formal psychiatric diagnosis was made and the behavioural problems appeared the result of anxieties provoked by novel situations, enhanced by the intellectual disability. To the author's knowledge, this duplication has not been published previously and it is considered causative of the phenotype.
    Genetic counseling (Geneva, Switzerland) 02/2009; 20(1):45-51. · 0.32 Impact Factor
  • M. Coetzee, S. Tuinier
    European Psychiatry - EUR PSYCHIAT. 01/2009; 24.
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    ABSTRACT: Metabolic syndrome during clozapine treatment Objective: To assess the prevalence of metabolic syndrome in inpatients with psychotic disorders treated with clozapine for at least one year. Design: Chronically admitted patients were screened on the use of clozapine and the presence of metabolic side effects. Methods: The Third Adult Treatment Panel was used tot assess metabolic syndrome. In addition, patient variables, dosage and plasma concentration of clozapine were recorded. Results: Included were 62 patients with a most prevalent diagnosis of schizophrenia. Mean duration of treatment with clozapine was 9.2 years. Metabolic syndrome was present in 60% of the patients and more frequent in cases with comedication of mood stabilizers. Conclusion: Metabolic syndrome is highly prevalent among patients treated with clozapine for psychotic disorders. Additional factors in the emergence of metabolic syndrome are: unhealthy life style, inactivity and comedication.
  • M. Coetzee, W. Verbeeck, S. Tuinier
    European Psychiatry 01/2009; 24. · 3.29 Impact Factor
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    ABSTRACT: Background and Objectives: Testosterone deficiency has been implicated in the etiology of depression although there is an ongoing debate on the nature of this association. There is a paucity of data about the psychological impact of hypogonadism in genetic disorders associated with testosterone deficiency. Methods: A 57-year-old male is described who was referred for treatment resistant depression. His history showed infertility and lowered testosterone. A selective literature review is given to clarify the patient's clinical condition. Results: Cytogenetic analysis demonstrated a Robertsonian translocation between chromosomes 13 and 14 that accounted for his infertility. The psychopathological picture did not meet the criteria for a major depressive disorder but was characterized by symptoms of apathy or avolition. These symptoms were most probably aggravated by previous long lasting treatment with antidepressants. Conclusions: Testosterone deficiency may be related to motivational deficits that should not be misunderstood for depressive illness. Apathy is probably an underestimated side effect of antidepressants.
    European Journal of Psychiatry 12/2008; 22(4):195-199. · 0.46 Impact Factor
  • Willem M A Verhoeven, Siegfried Tuinier
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    ABSTRACT: Phenomenology has been the reference point that investigators have used in their efforts to understand schizophrenia. Although symptoms and signs are crucial for the diagnosis of schizophrenia, there is an ongoing debate since Kraepelin attempted to group symptoms to understand the etiology of schizophrenia. Several operational criteria have been developed to establish the diagnosis of schizophrenia, making it obvious that there are no precise symptomatological boundaries. There is little clear indication which of the systems is valid for genetic and other biological research. Despite the enormous effort to find a linkage between schizophrenia and one or more loci, the results are far from conclusive. Another approach is the search for candidate genes of which DICS1 and 22q11 deletion syndrome are examples. In all studies into the genetic underpinnings of schizophrenia, however, the clinical vantage point is neglected in that a broad clinical phenotype with respect to, e.g., developmental issues, symptoms and comorbidity is narrowed down to one categorical diagnosis. This is illustrated by the lack of exclusion criteria in genetic studies and by the occurrence of schizophrenia-like psychoses in a broad array of genetic syndromes. In case of 22q11 deletion syndrome, the psychotic symptoms emerge in the context of brain anomalies, a plethora of somatic abnormalities and specific neurocognitive deficits. Prader-Willi syndrome is a hypothalamic disorder in which psychotic symptoms may occur that resemble schizophrenia. It is concluded that not only schizophrenia is a highly variable disease but that the genetic samples are even much more heterogeneous.
    Neurotoxicity Research 11/2008; 14(2-3):141-50. · 2.87 Impact Factor
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    ABSTRACT: Clinical psychiatry is confronted with the expanding knowledge of medical genetics. Most of the research into the genetic underpinnings of major mental disorders as described in the categorical taxonomies, however, did reveal linkage with a variety of chromosomes. This heterogeneity of results is most probably due to the assumption that the nosological categories as used in these studies are disease entities with clear boundaries. If the reverse way of looking, the so-called bottom-up approach, is applied, it becomes clear that genetic abnormalities are in most cases not associated with a single psychiatric disorder but with a certain probability to develop a variety of aspecific psychiatric symptoms. The adequacy of the categorical taxonomy, the so-called top-down approach, seems to be inversely related to the amount of empirical etiological data. This is illustrated by four rather prevalent genetic syndromes, fragile X syndrome, Prader-Willi syndrome, 22q11 deletion syndrome, and Noonan syndrome, as well as by some cases with rare chromosomal abnormalities. From these examples, it becomes clear that psychotic symptoms as well as mood, anxiety, and autistic features can be found in a great variety of different genetic syndromes. A psychiatric phenotype exists, but comprises, apart from the chance to present several psychiatric symptoms, all elements from developmental, neurocognitive, and physical characteristics.
    Targets & therapy 10/2008; 2(3):409-17.
  • European Psychiatry 04/2008; 23. · 3.29 Impact Factor
  • European Psychiatry 04/2008; 23. · 3.29 Impact Factor
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    ABSTRACT: Although Noonan syndrome (NS) is a disorder with a relatively high prevalence, virtually no information in adult patients is available about the psychological and psychopathological profile. In the present clinical report the first series of 10 NS patients from an ongoing project is presented. The purpose of the study is to investigate the psychopathology, social cognition and adaptation as well as the quality of life in NS patients aged 16 years or more. PTPN11 mutations were present in six patients and KRAS and SOS1 in one patient, respectively. In two patients no known mutation was found. The results demonstrate a variable level of intelligence and suggest moderately impaired social cognition in terms of emotion recognition and alexithymia. In some patients mild signs of anxiety and lowered mood are found that, however, do not meet the criteria for a specific psychiatric disorder. It is concluded that NS in adults is associated with a behavioral phenotype in which deficiencies in social and emotional recognition and expression may be key elements.
    American Journal of Medical Genetics Part A 02/2008; 146A(2):191-6. · 2.30 Impact Factor
  • European Psychiatry - EUR PSYCHIAT. 01/2008; 23.
  • I. F. Bloemen, S. Tuinier, W. Verbeeck
    European Psychiatry - EUR PSYCHIAT. 01/2008; 23.
  • European Psychiatry - EUR PSYCHIAT. 01/2008; 23.

Publication Stats

683 Citations
274.55 Total Impact Points


  • 1992–2010
    • Vincent van Gogh voor Geestelijke Gezondheidszorg
      Venraai, Limburg, Netherlands
  • 2009
    • Erasmus MC
      Rotterdam, South Holland, Netherlands
  • 2007
    • Radboud University Nijmegen
      • Department of Human Genetics
      Nijmegen, Provincie Gelderland, Netherlands
  • 2006
    • Delta Psychiatrisch Centrum
      Rotterdam, South Holland, Netherlands
  • 2001–2003
    • Erasmus Universiteit Rotterdam
      • Department of Psychiatry
      Rotterdam, South Holland, Netherlands
  • 2000
    • Maastricht University
      Maestricht, Limburg, Netherlands