Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.

BACKGROUND: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. Most affected patients have seizures and their cognitive level varies from normal to severely impaired. At present, two genes have been identified to cause PH when mutated. Mutations in FLNA (Xq28) and ARFGEF2 (20q13) are responsible for X-linked bilateral PH and a rare autosomal recessive form of PH with microcephaly. Chromosomal rearrangements involving the 1p36, 5p15, and 7q11 regions have also been reported in association with PH but the genes implicated remain unknown. Fourteen additional distinct anatomoclinical PH syndromes have been described, but no genetic insights into their causes have been gleaned. METHODS: We report the clinical and imaging features of three unrelated patients with epilepsy, mental retardation, and bilateral PH in the walls of the temporal horns of the lateral ventricles, associated with a de novo deletion of the 5q14.3-15 region. We used microarray-based comparative genomic hybridization to define the boundaries of the deletions. RESULTS: The three patients shared a common deleted region spanning 5.8 Mb and containing 14 candidate genes. CONCLUSION: We identified a new syndrome featuring bilateral periventricular heterotopia (PH), mental retardation, and epilepsy, mapping to chromosome 5q14.3-q15. This observation reinforces the extreme clinical and genetic heterogeneity of PH. Array comparative genomic hybridization is a powerful diagnostic tool for characterizing causative chromosomal rearrangements of limited size, identifying potential candidate genes for, and improving genetic counseling in, malformations of cortical development.

Psychiatric morbidity and substance use in young people aged 13-15 years: results from the Child and Adolescent Survey of Mental Health.

BACKGROUND: Psychoactive substance use is strongly associated with psychiatric morbidity in both adults and adolescents. AIMS: To determine which of alcohol, nicotine and cannabisis mostclosely linked to psychiatric disorders in early adolescence. METHOD: Data from 2624 adolescents aged 13-15 years were drawn from a national mental health survey of children. The relationship between psychiatric morbidity and smoking, drinking and cannabis use was examined by logistic regression analyses. RESULTS: Having a psychiatric disorder was associated with an increased risk of substance use. Greater involvement with any one substance increased the risk of other substance use. Analyses of the interactions between smoking, drinking and cannabis use indicated that the relationship between substance use and psychiatric morbidity was primarily explained by regular smoking and (to a lesser extent) regular cannabis use. CONCLUSIONS: In this sample, links between substance use and psychiatric disorders were primarily accounted for by smoking. The strong relationship is likely to be due to a combination of underlying individual constitutional factors and drug-specific effects resulting from consumption over the period of adolescent development and growth.

Drug use and initiation in prison: results from a national prison survey in England and Wales.

AIMS: To investigate heroin and cocaine use in a sample of British prisoners, and to explore the characteristics of inmates who use these drugs for the first time while in prison. DESIGN, PARTICIPANTS: A cross-sectional survey of all prisons in England and Wales conducted as part of a major national study of psychiatric morbidity. A total of 3142 prisoners (88.2% of those selected) completed a structured interviewer-administered questionnaire. MEASUREMENTS: Interview measures of personal demographics, social history, psychiatric morbidity and drug use. Personality disorders were diagnosed via the Structured Clinical Interview for DSM-IV (SCID-II) and neurotic symptoms were assessed using the revised Clinical Interview Schedule (CIS-R). FINDINGS: More than 60% of the heroin users and cannabis users reported that they had used these drugs in prison compared with less than a quarter of the life-time cocaine users. More than a quarter of the heroin users reported that they had initiated use of this drug in prison. The extent of an individual's experience of prison was related more consistently to heroin and/or cocaine use in and out of prison than other personal background, social history or psychiatric variables assessed. CONCLUSIONS: The findings indicate that prisons are a high-risk environment for heroin and other drug initiation and use. Although related to drug use, psychiatric variables were not generally associated with initiation in prison, which was dominated by prison exposure. There is a need to explore ways of reducing heroin initiation in prison as part of a broader risk-prevention strategy.

Psychosis and drug dependence: results from a national survey of prisoners.

BACKGROUND: The links between drug use and psychosis are of major aetiological and prognostic significance. Psychosis and drug dependence frequently co-occur within the prison population, providing the opportunity to study this link more closely. AIMS: To explore the relationship between psychosis and drug dependence in a sample of prisoners. METHOD: A total of 3142 prisoners were surveyed nationally, and structured clinical data were obtained from a subsample of 503 respondents. Psychiatric assessment was based on the Schedules for Clinical Assessment in Neuropsychiatry (version 1.0). Measures of amphetamine, cannabis, cocaine and heroin use and dependence were obtained through self-report. RESULTS: Logistic regression analyses indicated that first use of amphetamines or cocaine before the age of 16 years and severe cannabis or cocaine dependence were related to an increased risk of psychosis. In contrast, severe dependence on heroin was associated with a reduced risk of this classification. CONCLUSIONS: Severe dependence on cannabis and psychostimulants is associated with a higher risk of psychosis and is in contrast to severe dependence on heroin, which has a negative relationship with psychosis.

Understanding reasons for drug use amongst young people: a functional perspective.

This study uses a functional perspective to examine the reasons young people cite for using psychoactive substances. The study sample comprised 364 young poly-drug users recruited using snowball-sampling methods. Data on life-time and recent frequency and intensity of use for alcohol, cannabis, amphetamines, ecstasy, LSD and cocaine are presented. A majority of the participants had used at least one of these six drugs to fulfil 11 of 18 measured substance use functions. The most popular functions for use were using to: relax (96.7%), become intoxicated (96.4%), keep awake at night while socializing (95.9%), enhance an activity (88.5%) and alleviate depressed mood (86.8%). Substance use functions were found to differ by age and gender. Recognition of the functions fulfilled by substance use should help health educators and prevention strategists to make health messages about drugs more relevant and appropriate to general and specific audiences. Targeting substances that are perceived to fulfil similar functions and addressing issues concerning the substitution of one substance for another may also strengthen education and prevention efforts.

Substance use among young people: the relationship between perceived functions and intentions.

AIMS: To explore the relationship between young people's use of psychoactive substances, perceived functions for using, the experience of negative effects, and the influences of these variables on their intention to use substances again. DESIGN: Cross-sectional survey in which respondents were purposively recruited using snowballing techniques. SETTING: Interviews were conducted in informal community settings. PARTICIPANTS: One hundred young drug and alcohol users (45 females) aged between 16 and 21 years. MEASUREMENTS: Life-time prevalence, current frequency and intensity of substance use and intentions to use again were assessed for four target substances (alcohol, cannabis, amphetamines and ecstasy) together with measures of the perceived functions for their use and peer substance involvement. FINDINGS: The life-time experience of negative effects from using the assessed substances was not found to correlate with current consumption patterns. Statistically significant associations were observed between the reported frequency of taking substances and the perceived social/contextual and/or mood altering functions cited for their consumption. The substance use function measures together with the reported extent of peer use were significant predictors of intentions to use again. CONCLUSIONS: If these findings are confirmed in larger studies, educational and preventative efforts may need to acknowledge the positive personal and social functions which different substances serve for young people. The results also call into question the extent to which the experience of negative effects influences future patterns of use.

Raves, drugs and experience: drug use by a sample of people who attend raves in Western Australia.

AIMS: To investigate the patterns of drug use among a sample of people in the rave scene in Perth, Western Australia and test the hypothesis that those who were less experienced in their drug use had less drug-related knowledge. DESIGN: Respondents were recruited through flyers in cafes, clothing and music stores and through snowballing. They were paid $20 for a 1 1/2 hour interview which comprised both qualitative and quantitative components. SETTING: Respondents were interviewed in cafes or restaurants, private dwellings, agencies or other public spaces. PARTICIPANTS: Eighty-three people who had been to a rave in the prior 6 months. Their mean age was 18.9 years (range 13-48) and 53% were male. MEASUREMENTS: Brief history of drug use, HIV risk behaviour, knowledge of drug-related harm and side effects experienced from drugs. FINDINGS: The group was unremarkable apart from their drug use. Ninety per cent of respondents had ever used LSD, 76% had used ecstasy and 69% had used amphetamines. Before, during or after the last rave attended 52% used cannabis and 35% had used each of amphetamines and LSD. Those who were less experienced in their drug use had less knowledge about drugs. Many respondents began using 'dance drugs' while they were still at school. CONCLUSIONS: Those with less drug-using experience may have less drug-related knowledge and may be at greater risk of harm. Strategies should be implemented which involve people in the scene, promoters, health workers and the authorities to reduce drug-related harm associated with raves and other dance events.

Polydrug use at raves by a Western Australian sample.

This study aimed to quantify the patterns of drug use among a group of participants in the rave scene in Perth, Western Australia. Interviews were conducted with 83 people who had recently been to a 'rave'. The study incorporated a semi-structured qualitative interview and a structured quantitative questionnaire. This paper reports on the quantitative data collected concerning patterns of drug use in association with the last rave attended. Use of 'dance drugs' (ecstasy, amphetamines or LSD) was reported by 86.8% of the 76 respondents who had used at least one drug in association with their last rave. Nearly 80% of these had also used at least one other drug on this occasion (mean number used = 2.4). Cannabis and inhalants were the drugs most commonly combined with the 'dance drugs', several respondents used more than one 'dance drug' concurrently and 16.7% had used alcohol. It seems that a significant proportion of those using 'dance drugs' in association with raves and dance parties are mixing these drugs with other substances despite harm reduction advice to the contrary. The need for more research in this area is discussed.