Retrospective chart review of catatonia in child and adolescent psychiatric patients

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/89509/1/j.1600-0447.2011.01778.x.pd

Microsatellite Marker in Gamma - Aminobutyric Acid - A Receptor Beta 3 Subunit Gene and Autism Spectrum Disorders in Korean Trios

This study aimed to identify the association between gamma-aminobutyric acid-A (GABA-A) receptor subunit β3 (GABRB3) gene and autism spectrum disorders (ASD) in Korea. Fifty-eight children with ASD [47 boys (81.0%), 5.5 ± 4.1 years old], 46 family trios, and 86 healthy control subjects [71 males (82.6%), 33.6 ± 9.3 years old] were recruited. Transmission disequilibrium test revealed that, 183 bp long allele in GABRB3 gene was preferentially transmitted in families with ASD (p = 0.025), whereas a population-based case-control study, however, showed no association between ASD and GABRB3 microsatellite polymorphism. Our data provide preliminary evidence that GABRB3 gene is associated with ASD in Korea

An examination of the temporal and geographical patterns of psychiatric emergency service use by multiple visit patients as a means for their early detection

<p>Abstract</p> <p>Background:</p> <p>Frequent users of the psychiatric emergency service (PES) place a heavy burden upon the mental health care delivery system. The aim of this study was to identify distinct temporal or geographical patterns of PES use by these patients as potential markers for their early detection.</p> <p>Methods:</p> <p>Diagnostic profiles were obtained for patients making an intermediate (4 to 10) or a high (11 or more) number of visits to a general hospital PES in Montreal (Canada) between 1985 and 2004. Between-group comparisons were made with regards to several parameters. These included the time intervals between consecutive visits, visit clustering (single, repeating, and the time interval to the first cluster) and visits made to three other services where data was similarly acquired from 2002 to 2004.</p> <p>Results:</p> <p>The two multiple visit groups differed with regards to diagnostic profiles and actual time between consecutive visits (significantly shorter in patients with 11 or more visits). Patients with 11 or more visits were more likely to have a single cluster (3 or more visits/3 months) or repeating clusters (4 visits/3 months) in their patterns of use. Personality disorders were more prevalent in patients with single clusters as they were, along with schizophrenia, in those with repeating clusters. In addition, clusters were found to occur sufficiently early so as to be potentially useful as markers for early detection. Ten percent of those with 11 or more visits and 16% of those with an intermediate number of visits frequented at least one other PES. A small number of patients, primarily those with substance abuse, made over 50% of their visits to other services.</p> <p>Conclusion:</p> <p>Temporal and geographical patterns of use differed significantly between the multiple visit groups. These patterns, combined with distinct diagnostic profiles, could potentially lead to the more rapid identification and treatment of specific sub-groups of multiple visit patients.</p

Liquid-Diet with Alcohol Alters Maternal, Fetal and Placental Weights and the Expression of Molecules Involved in Integrin Signaling in the Fetal Cerebral Cortex

Maternal alcohol consumption during pregnancy causes wide range of behavioral and structural deficits in children, commonly known as Fetal Alcohol Syndrome (FAS). Children with FAS may suffer behavioral deficits in the absence of obvious malformations. In rodents, the exposure to alcohol during gestation changes brain structures and weights of offspring. The mechanism of FAS is not completely understood. In the present study, an established rat (Long-Evans) model of FAS was used. The litter size and the weights of mothers, fetuses and placentas were examined on gestation days 18 or 20. On gestation day 18, the effects of chronic alcohol on the expression levels of integrin receptor subunits, phospholipase-Cγ and N-cadherin were examined in the fetal cerebral cortices. Presence of alcohol in the liquid-diet reduced the consumption and decreased weights of mothers and fetuses but increased the placental weights. Expression levels of β1 and α3 integrin subunits and phospholipase-Cγ2 were significantly altered in the fetal cerebral cortices of mothers on alcohol containing diet. Results show that alcohol consumption during pregnancy even with protein, mineral and vitamin enriched diet may affect maternal and fetal health, and alter integrin receptor signaling pathways in the fetal cerebral cortex disturbing the development of fetal brains

Early-onset catatonia associated with SHANK3 mutations: looking at the autism spectrum through the prism of psychomotor phenomena

BackgroundIndividuals with Phelan-McDermid syndrome (PMS) present with a wide range of diagnoses: autism spectrum disorder, intellectual disability, or schizophrenia. Differences in the genetic background could explain these different neurodevelopmental trajectories. However, a more parsimonious hypothesis is to consider that they may be the same phenotypic entity. Catatonic disturbances occasionally reported from adolescence onwards in PMS prompts exploration of the hypothesis that this clinical entity may be an early-onset form of catatonia. The largest cohort of children with childhood catatonia was studied by the Wernicke-Kleist-Leonhard school (WKL school), which regards catatonia as a collection of qualitative abnormalities of psychomotricity that predominantly affecting involuntary motricity (reactive and expressive). The aim of this study was to investigate the presence of psychomotor signs in three young adults carrying a mutation or intragenic deletion of the SHANK3 gene through the prism of the WKL school conception of catatonia.MethodsThis study was designed as an exploratory case study. Current and childhood psychomotor phenomena were investigated through semi-structured interviews with the parents, direct interaction with the participants, and the study of documents reporting observations of the participants at school or by other healthcare professionals.ResultsThe findings show catatonic manifestations from childhood that evolved into a chronic form, with possible phases of sub-acute exacerbations starting from adolescence.ConclusionThe presence of catatonic symptoms from childhood associated with autistic traits leads us to consider that this singular entity fundamentally related to SHANK3 mutations could be a form of early-onset catatonia. Further case studies are needed to confirm our observations

A clinical review of the treatment of catatonia

Catatonia is a severe motor syndrome with an estimated prevalence among psychiatric inpatients of about 10%. At times, it is life-threatening especially in its malignant form when complicated by fever and autonomic disturbances. Catatonia can accompany many different psychiatric illnesses and somatic diseases. In order to recognize the catatonic syndrome, apart from thorough and repeated observation, a clinical examination is needed. A screening instrument, such as the Bush-Francis Catatonia Rating Scale, can guide the clinician through the neuropsychiatric examination. Although severe and life-threatening, catatonia has a good prognosis. Research on the treatment of catatonia is scarce, but there is overwhelming clinical evidence of the efficacy of benzodiazepines, such as lorazepam, and electroconvulsive therapy

Clinical Psychologists’ Firearm Risk Management Perceptions and Practices

The purpose of this study was to investigate the current perceptions and practices of discussing firearm risk management with patients diagnosed with selected mental health problems. A three-wave survey was mailed to a national random sample of clinical psychologists and 339 responded (62%). The majority (78.5%) believed firearm safety issues were greater among those with mental health problems. However, the majority of clinical psychologists did not have a routine system for identifying patients with access to firearms (78.2%). Additionally, the majority (78.8%) reported they did not routinely chart or keep a record of whether patients owned or had access to firearms. About one-half (51.6%) of the clinical psychologists reported they would initiate firearm safety counseling if the patients were assessed as at risk for self-harm or harm to others. Almost half (46%) of clinical psychologists reported not receiving any information on firearm safety issues. Thus, the findings of this study suggest that a more formal role regarding anticipatory guidance on firearms is needed in the professional training of clinical psychologists

Number of addictive substances used related to increased risk of unnatural death: A combined medico-legal and case-record study

<p>Abstract</p> <p>Background</p> <p>Substance use disorders have repeatedly been found to lead to premature death, i.e. drug-related death by disease, fatal intoxications, or trauma (accidents, suicide, undetermined suicide, and homicide). The present study examined the relationship between multi-drug substance use and natural and unnatural death.</p> <p>Methods</p> <p>All consecutive, autopsied patients who had been in contact with the Addiction Centre in Malmö University Hospital from 1993 to 1997 inclusive were investigated. Drug abuse was investigated blindly in the case records and related to the cause of death in 387 subjects.</p> <p>Results</p> <p>Every substance apart from alcohol used previously in life added to the risk of unnatural death in a linear way. There were independent increased risks of fatal heroin overdoses or undetermined suicide. Death by suicide and violent death were unrelated to additional abuse.</p> <p>Conclusion</p> <p>The number of drugs used was related to an increased risk of unnatural death by undetermined suicide (mainly fatal intoxications) and heroin overdose.</p

Investigation of autism and GABA receptor subunit genes in multiple ethnic groups

Autism is a neurodevelopmental disorder of complex genetics, characterized by impairment in social interaction and communication, as well as repetitive behavior. Multiple lines of evidence, including alterations in levels of GABA and GABA receptors in autistic patients, indicate that the GABAergic system, which is responsible for synaptic inhibition in the adult brain, may be involved in autism. Previous studies in our lab indicated association of noncoding single nucleotide polymorphisms (SNPs) within a GABA receptor subunit gene on chromosome 4, GABRA4, and interaction between SNPs in GABRA4 and GABRB1 (also on chromosome 4), within Caucasian autism patients. Studies of genetic variation in African-American autism families are rare. Analysis of 557 Caucasian and an independent population of 54 African-American families with 35 SNPs within GABRB1 and GABRA4 strengthened the evidence for involvement of GABRA4 in autism risk in Caucasians (rs17599165, p=0.0015; rs1912960, p=0.0073; and rs17599416, p=0.0040) and gave evidence of significant association in African-Americans (rs2280073, p=0.0287 and rs16859788, p=0.0253). The GABRA4 and GABRB1 interaction was also confirmed in the Caucasian dataset (most significant pair, rs1912960 and rs2351299; p=0.004). Analysis of the subset of families with a positive history of seizure activity in at least one autism patient revealed no association to GABRA4; however, three SNPs within GABRB1 showed significant allelic association; rs2351299 (p=0.0163), rs4482737 (p=0.0339), and rs3832300 (p=0.0253). These results confirmed our earlier findings, indicating GABRA4 and GABRB1 as genes contributing to autism susceptibility, extending the effect to multiple ethnic groups and suggesting seizures as a stratifying phenotype