Recurrent deletions and duplications at the 2q13 locus have been associated with developmental delay (DD) and dysmorphisms. We aimed to undertake detailed clinical characterization of individuals ...with 2q13 copy number variations (CNVs), with a focus on behavioral and psychiatric phenotypes. Participants were recruited via the Unique chromosomal disorder support group, U.K. National Health Service Regional Genetics Centres, and the DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER) database. A review of published 2q13 patient case reports was undertaken to enable combined phenotypic analysis. We present a new case series of 2q13 CNV carriers (21 deletion, 4 duplication) and the largest ever combined analysis with data from published studies, making a total of 54 deletion and 23 duplication carriers. DD/intellectual disabilities was identified in the majority of carriers (79% deletion, 70% duplication), although in the new cases 52% had an IQ in the borderline or normal range. Despite the median age of the new cases being only 9 years, 64% had a clinical psychiatric diagnosis. Combined analysis found attention deficit hyperactivity disorder (ADHD) to be the most frequent diagnosis (48% deletion, 60% duplication), followed by autism spectrum disorders (33% deletion, 17% duplication). Aggressive (33%) and self‐injurious behaviors (33%) were also identified in the new cases. CNVs at 2q13 are typically associated with DD with mildly impaired intelligence, and a high rate of childhood psychiatric diagnoses—particularly ADHD. We have further characterized the clinical phenotype related to imbalances of the 2q13 region and identified it as a region of interest for the neurobiological investigation of ADHD.
As life expectancy of people with intellectual disabilities (ID) extends into older age, dementia is an increasing cause of morbidity and mortality. To update and summarize current knowledge on ...dementia in older adults with ID, the authors conducted a comprehensive review of the published literature from 1997–2008 with a specific focus on: (1) epidemiology of dementia in ID in general as well as in specific genetic syndromes; (2) presentation; and (3) diagnostic criteria for dementia. The review drew upon a combination of searches in electronic databases Medline, EMBASE, and PsycINFO for original research papers in English, Dutch, or German. The authors report that varied methodologies and inherent challenges in diagnosis yield a wide range of reported prevalence rates of dementia. Rates of dementia in the population with intellectual disability not because of Down syndrome (DS) are comparable with or higher than the general population. Alzheimer's disease onset in DS appears earlier and the prevalence increases from under 10% in the 40s to more than 30% in the 50s, with varying prevalence reported for those 60 and older. Incidence rates increase with age. Few studies of dementia in other genetic syndromes were identified. Presentation differs in the ID population compared with the general population; those with DS present with prominent behavioral changes believed to be because of frontal lobe deficits. Authors recommend large‐scale collaborative studies of high quality to further knowledge on the epidemiology and clinical presentation of dementia in this population.
Background: Psychiatric Intensive Care Units (PICU) are small, highly staffed, low secure wards, designed to treat acute challenging psychotic behaviour. They have become a standard component of ...psychiatric hospital design despite minimal published data about their clinical activity and effectiveness. Aims: To compare the characteristics, treatment and outcome of a series of patients admitted to a PICU unit with a control group treated on the open wards of the same hospital. Method: Case controlled retrospective case note analysis. Results: PICU patients were predominantly young male Caucasians, with psychotic illness, a history of violence and substance misuse. Most had a relatively brief PICU admission. The PICU also acted as a de facto long stay low secure unit because of a shortage of more appropriate facilities. Conclusions: The PICU appears to be a useful resource for treating highly disturbed individuals who are at high risk of violence and who would be difficult to manage safely on an open ward. More work is needed to establish an evidence base for good practice. Declaration of interest: The study received ethical approval from the Southampton & South West Hants Local Research Ethics Committee. The work was not supported by any grants. There is no conflict of interest.
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BFBNIB, DOBA, IZUM, KILJ, NUK, OILJ, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK, VSZLJ
Over the past few decades genetic advances have resulted in increasing understanding of the etiology of intellectual disability (ID) syndromes while detailed phenotypic descriptions of behavior and ...mental disorders have become possible with validated and reliable assessment tools. Although the concept that certain ID syndromes are associated with a recognizable physical, behavioral, and cognitive “phenotype” is not new, it has gained considerable popularity among psychiatrists and psychologists working with this population. In this chapter, we will review the key aspects of behavioral phenotypes and genetic testing before describing some of the phenotypes associated with specific syndromes. For terms in italics, see “Glossary.”
Affective disorder occurs in some families with schizophrenia, and schizophrenic patients often describe concurrent episode(s) of depression that may lead them to be diagnosed schizoaffective. The ...present study examines the pattern of affective disorder in families with two or more members with schizophrenia or schizoaffective disorder. We find that affective disorders are more frequently inherited from the same parental side of the family as schizophrenia-like psychosis. When unipolar, it more often is expressed in female than male relatives (particularly mothers), and when bipolar it is more likely in males. In contrast, schizophrenia with and without depression is equally prevalent in both sexes. Unipolar illness was more common in relatives of schizophrenics whose illnesses are characterized by recurrent episodes of depression than in those whose are not. These data are consistent with the hypothesis that the same genes could contribute to susceptibility to both schizophrenia and affective disorder in some families, and that sex and phenotypic expression are in some way related. However, the phenomenon of high rates of depression in mothers of schizophrenic patients needs explanation.
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