Glycosylated hemoglobin as a screening test for hyperglycemia in antipsychotic-treated patients: A follow-up study

Purpose: To assess the point prevalence of undetected prediabetes (preDM) and diabetes mellitus (DM) in patients treated with antipsychotics and to compare metabolic parameters between patients with normoglycemia (NG), preDM, and DM. Furthermore, conversion rates for preDM and DM were determined in a 1-year follow-up.Patients and methods: In a naturalistic cohort of 169 patients, fasting glucose (FG) and hemoglobin A1c (HbA1c) criteria were applied at baseline and at follow-up after 1 year. A distinction was made between baseline patients diagnosed according to FG (B-FG) and those diagnosed according to HbA1c (B-HbA1c). Conversion rates in the 1-year follow-up were compared between B-FG and B-HbA1c.Results: At baseline, preDM and DM were present in 39% and 8%, respectively. As compared to patients with NG, metabolic syndrome was significantly more prevalent in patients with preDM (62% vs 31%). Although the majority of patients were identified by the FG criterion, HbA1c contributed significantly, especially to the number of patients diagnosed with preDM (32%). Regarding the patients with preDM, conversion rates to NG were much higher in the B-FG group than in the B-HbA1c group (72% vs 18%). In patients diagnosed with DM, conversion rates were found for B-FG only.Conclusion: PreDM and DM are highly prevalent in psychiatric patients treated with antipsychotic drugs. HbA1c was shown to be a more stable parameter in identifying psychiatric patients with (an increased risk for) DM, and it should therefore be included in future screening instruments

Neuropsychological and Behavioral Aspects of Noonan Syndrome

Abstract: The current paper introduces concise neuropsychological assessment as an essential tool for studying the contribution of cognition and behavior in the expression of genetic syndromes, like Noonan syndrome (NS). Cognitive and behavioral findings in NS show intelligence scores across a wide range, with a mildly lowered average level. Language and motor development are often delayed, but no longer dysfunctional in adulthood. Continuing mild problems in selective and sustained attention are noted, as well as suboptimal organization skills and compromised abilities to structure complex information. These problems seem to culminate in learning difficulties, requiring attention for special needs in education. It seems that a complex of psychosocial immaturity, alexithymia and amenable traits is typical of NS patients. Consequently, psychopathology or psychological problems in leading a self-serving life may often remain underreported. This is why the authors advocate the integration of the domain of social cognition and personality in NS assessment

Recurrent schizophrenia-like psychosis as first manifestation of epilepsy: a diagnostic challenge in neuropsychiatry

Abstract: Since the 1950s, several studies have been carried out to investigate the occurrence of schizophrenia-like psychoses in epilepsy. The psychopathological profile comprises symptoms from the affective, schizophrenic, and cognitive domains and the prevalence varies between 2% to 20%. Classification of such conditions is performed according to their temporal relationship with the seizure itself. Although it is well known that epilepsy may be associated with psychotic disorders, it is less widely recognized that relapsing psychotic phenomena may be the first and only symptom of epilepsy. In this research, two patients are described who were initially referred for recurrent episodes of bipolar affective disorder and schizophrenic psychosis, respectively. In both patients, a diagnosis of relapsing postictal psychotic states due to previously undiagnosed epilepsy was made and consequently, treatment with antiepileptics was started. During follow up over several months, they remained free of both epileptic and psychotic symptoms. Given the kaleidoscopic nature of the postictal psychosis and full recovery from this, such psychoses best meet the criteria for a cycloid psychosis. These observations illustrate diagnostic and therapeutic pitfalls due to the conceptual disintegration emerging from the inadequate separation between psychiatry and neurology. Therefore, the importance of a neuropsychiatric viewpoint should be promoted

Avolition in a patient with hypogonadism

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

Adult male patient with severe intellectual disability caused by a homozygous mutation in the HNMT gene

Histamine is involved in various physiological functions like sleep-wake cycle and stress regulation. The histamine N-methyltransferase (HNMT) enzyme is the only pathway for termination of histamine neurotransmission in the central nervous system. Experiments with HNMT knockout mice generated aggressive behaviours and dysregulation of sleep-wake cycles. Recently, seven members of two unrelated consanguineous families have been reported in whom two different missense HNMT mutations were identified. All showed severe intellectual disability, delayed speech development and mild regression from the age of 5 years without, however, any dysmorphisms or congenital abnormality. A diagnosis of mental retardation, autosomal recessive 51 was made. Here, we describe a severely mentally retarded adolescent male born from second cousins with a homozygous mutation in HNMT. His phenotypic profile comprised aggression, delayed speech, autism, sleep disturbances and gastro-intestinal problems. At early age, regression occurred. Treatment with hydroxyzine combined with a histamine-restricted diet resulted in significant general improvement

Metabool syndroom bij de behandeling met clozapine

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

A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?

Background: The minimal critical region in 2q23.1 deletion syndrome comprises one gene only, that is, the methyl-CpG-binding domain protein 5 (MBD5) gene. Since the phenotypes of patients with deletions, duplications or pathogenic variants of MBD5 show considerable overlap, the term MBD5-associated neurodevelopmental disorder (MAND) was proposed. These syndromes are characterized by intellectual disability, seizures of any kind and symptoms from the autism spectrum. In a very limited number of patients, MAND may be associated with regression starting either at early infancy or at midlife. Methods: The present paper describes a severely intellectually disabled autistic female with therapy resistant complex partial epilepsy starting at her 16the with gradual cognitive and behavioral regression towards her sixth decade. Results: Cognitive and behavioral regression occurred towards the patient's sixth decade. Exome sequencing disclosed a novel heterozygous pathogenic frameshift mutation of MBD5 that was considered to be causative for the combination of intellectual disability, treatment-resistant epilepsy and autism. Conclusion: The presented patient is the second with a pathogenic MBD5 mutation in whom the course of disease is suggestive of early onset dementia starting in her fifth decade. These findings stress the importance of exome sequencing, also in elderly intellectually disabled patients, particularly in those with autism

Psychiatrische diagnostiek bij verstandelijk gehandicapten

De diagnostiek van gedragsstoornissen en psychiatrische aandoeningen bij verstandelijk gehandicapten is buitengewoon complex vanwege het ontbreken van bruikbare diagnostische instrumenten en het geregeld vóórkomen van psychiatrische symptomen bij een specifieke genetische etiologie. In deze bijdrage wordt een diagnostische algoritme voorgesteld