Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia.

Objective: Sanfilippo B is a rare autosomal recessive mucopolysaccharidosis (MPS IIIB) caused by a deficiency of N-acetyl-alpha-D-glucosaminidase (NAGLU).

Method: A mild mentally retarded elderly female patient is described with a slowly progressive dementia who had given birth to a daughter who developed normally.

Results: Metabolic screening revealed an enhanced concentration of heparan sulfate in urine.

Psychiatric profile in rubinstein-taybi syndrome. A review and case report.

Background: 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.

Sampling And Methods: In this paper, a review is presented of the psychiatric and behavioural aspects of RTS. This is illustrated with a case report.

Top-down or bottom-up: Contrasting perspectives on psychiatric diagnoses.

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.

[An algorithm for psychotropics for the mentally handicapped: psychiatric diagnosis in three stages].

Background: 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.

Aim: 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.

Method: 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.

Plasma levels of nitric oxide related amino acids in demented subjects with Down syndrome are related to neopterin concentrations.

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.

A novel duplication of chromosome (13)(q14.1q21.3) in a patient with mental retardation and microcephaly.

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).

Antidepressants in the treatment of adult attention-deficit hyperactivity disorder: a systematic review.

Introduction: 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.

Clinical perspectives on the genetics of schizophrenia: a bottom-up orientation.

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.

Noonan syndrome: psychological and psychiatric aspects.

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.

[At the boundaries of self-determination: ethical and juridical dimensions of involuntary abortion and sterilization].

A young woman, diagnosed with schizophrenia, was admitted to a psychiatric clinic with an acute relapse of her illness. Two months later, while still at the clinic, she was found to be pregnant. Due to her illness she was not considered competent to decide whether to have an abortion.

Meditation-induced psychosis.

Background: Meditation is a self-regulatory psychological strategy that is frequently applied in Western as well as non-Western countries for different purposes; little is known about adverse events.

Sampling And Methods: A male patient is described who developed an acute and transient psychosis with polymorphic symptomatology after meditating. A literature search for psychotic states related to meditation was carried out on PubMed, Embase and PsycInfo.

Thoughts on the behavioural phenotypes in Prader-Willi syndrome and velo-cardio-facial syndrome: a novel approach.

Background: In both Prader-Willi syndrome (PWS) and 22q11 deletion syndrome [velo-cardio-facial syndrome (VCFS)], an increased risk for psychotic disorders is reported, which are as a rule not included in the behavioural phenotype of these two syndromes. For the description of a behavioural phenotype, the complete spectrum of physical, developmental, neuropsychological and psychiatric aspects is generally not taken into account. Moreover, psychiatric signs and symptoms often do not meet the criteria for a categorical diagnosis.

Klinefelter's syndrome and Prader-Willi syndrome: a rare combination.

In this paper a review is presented of the rare combination of Klinefelter's syndrome and Prader-Willi syndrome (PWS) and a second case of this combination with a uniparental disomy (UPD) etiology of PWS is described. Patients outlined in all other 8 reports and the present case have a PWS phenotype. Virtually no information is available on the behavioral and psychopathological phenotype in this combination.

Neuropsychiatric aspects of patients with hypothalamic hamartomas.

Hypothalamic hamartomas (HH) are developmental malformations that are associated with gelastic seizures, other types of seizures, cognitive decline, and symptoms related to hypothalamic dysfunction. Although aggressive behavior is frequently described, data on the neuropsychiatric profile are limited. In this article, five patients with HH are described who displayed a wide variety of psychiatric symptoms that, dependent on the time frame, met the criteria for several categorical diagnoses.

Plasma amino acids and neopterin in healthy persons with Down's syndrome.

In persons with Down's syndrome (DS) immunological abnormalities as well as hypothyroidism and Alzheimer type dementia are frequently observed. In addition, the activity of the enzyme cystathionine beta-synthase (CBS) is over-expressed which results in an altered homocysteine metabolism. In the present study, 48 older healthy DS persons without signs of dementia, psychiatric or somatic comorbidity and free of medication were analyzed for plasma levels of amino acids, neopterin and monoaminergic metabolites.

Disturbed serine metabolism and psychosis in a patient with a de novo translocation (2;10)(p23;q22.1).

Psychiatric diagnosing in mentally retarded patients is notoriously difficult and routine application of current taxonomies is of very limited use. Although psychotic disorders in general can be satisfactory grouped on a descriptive level, the aetiology is most probably very heterogeneous. In this case report a female patient is described who presented with mild mental retardation and recurrent affective psychotic episodes.

Neuropsychiatry and deletions of 18q; case report and diagnostic considerations.

The 18q deletion syndrome can be caused by several terminal and interstitial deletions of which terminal deletions of the distal part of 18q are the most frequent and known as the DeCroughy syndrome. The neuropsychiatric phenotype is not well documented and includes disorganised and disinhibited behaviours as well as language difficulties. Non development of language seems to be specific for cases with a more proximally located interstitial deletions.

[Psychoses and epilepsy. A case study].

Over the last few decades much research has been done into the raised level of psychiatric comorbidity in epilepsy. On the basis of a case study of a patient suffering from post-ictal psychoses we explain the psychiatric differential diagnosis within the framework of epilepsy and we investigate the frequent psychiatric side-effects of anticonvulsants. It is concluded that the links between epilepsy and psychiatric symptoms are complex and that the neuropsychiatry of epilepsy is concerned with syndromes that are unique and do notfit into modern psychiatric classification systems.

Nitric oxide and neopterin in bipolar affective disorder.

Background: There is an increasing interest in the role of nitric oxide (NO) and pterines in the pathophysiology of neuropsychiatric disorders. The results so far show an inconsistent pattern.

Methods: In the present study, neopterin and a measure of NO synthesis in plasma of symptomatic and euthymic bipolar affective patients were compared to those of patients with a major depression and healthy controls.

Prader-Willi syndrome: atypical psychoses and motor dysfunctions.

Prader-Willi syndrome (PWS) is the result of a lack of expression of genes on the paternally derived chromosome 15q11-q13 and can be considered as a hypothalamic disorder. Its behavioral phenotype is characterized by ritualistic, stereotyped, and compulsive behaviors as well as motor abnormalities. After adolescence, recurrent affective psychoses are relatively frequent, especially in patients with uniparental disomy.

Bipolar mania and plasma amino acids: increased levels of glycine.

Previous studies have suggested that the N-methyl-d-aspartate (NMDA) glutamate receptor complex is implicated in the pathophysiology of several neuropsychiatric disorders. Especially the glycine coagonist site of this receptor has been proposed as a therapeutic target. It has been hypothesized that the NMDA receptor and the serotonergic system, which function is compromised in affective disorders, are functionally coupled.

Catatonia: disappeared or under-diagnosed?

Background: Over the last century, especially during the latter half, the prevalence of the diagnosis of catatonic schizophrenia decreased considerably. Several explanations for this phenomenon have been put forward.

Sampling And Methods: The present study investigated the frequency of the diagnosis of catatonic schizophrenia in a large sample of admitted psychiatric patients (n = 19,309).

Amino acids in schizophrenia: evidence for lower tryptophan availability during treatment with atypical antipsychotics?

Amino acids play a role in neurotransmitter availability in the central nervous system, in that e.g. the synthesis of brain serotonin depends on the concentration of its precursor tryptophan.

Nonschizophrenic psychotic disorders: the case of cycloid psychoses.

Background: Cycloid psychosis is a psychiatric disorder known for about 100 years. This disorder is at present partly and simplified represented in the ICD-10.

Sampling And Methods: Over a period of 15 months, 139 consecutively acutely admitted psychotic patients were assessed, by means of different diagnostic instruments, in order to investigate the prevalence and the symptom profile of cycloid psychoses.