Rare health conditions 20: three rare forms of epilepsy—myoclonic astatic epilepsy (Doose syndrome), Dravet syndrome, benign Rolandic epilepsy; and a note on cannabis use

Background: In Denmark the boundaries between cannabis as an illicit drug and licit medicine have shifted rapidly in recent years, affecting also policy. However, the vast majority of Danes, who use cannabis as medicine (CaM) continue to rely on the unregulated market for supply. This study explores patterns of use and motives for use of CaM in Denmark. Methods: An anonymous online survey was made available to a convenience sample of users of CaM from July 14, 2018 to November 1, 2018. Participants were recruited through patient organisations, social and public media, and the illegal open cannabis market. Results: Of the final sample ( n = 3,021), a majority were women (62.6%) and the mean age was 49 years. Most had no prescription for CaM (90.9%), a majority had no or limited previous experience with recreational cannabis use (63.9%), and had used CaM for two years or less (65.0%). The most common form of intake was oil (56.8%) followed by smoke (24.0%). CBD oil (65.0%) was used more than hash, pot or skunk (36.2%). Most frequent conditions treated were chronic pain (32.0%), sleep disturbances (27.5%), stress (23.7%), osteoarthritis (22.7%), anxiety (19.6%), and depression (19.6%). Overall, users experienced CaM to be effective in managing somatic and mental health conditions and reported relatively few side-effects. CBD oil only users were more likely to be women, older, have limited recreational experience and have initiated use recently. Conclusions: A new user group has emerged in Denmark that, for the most part, use illegally sourced CaM to treat a broad range of somatic and mental health conditions, often with experienced effect and relatively low level of side-effects. The prevalent use of low-potency CBD oil indicates an interest in effects beyond the high normally associated with cannabis use. More clinical research into the effects and side-effects of CaM is needed to draw the boundaries of the medical utility of cannabis.

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Genotype-Phenotype correlation in Dravet Syndrome with SCN1A mutation increase efficiency of molecular diagnosis

Journal of Epilepsy and Clinical Neurophysiology ◽

10.1590/s1676-26492012000200009 ◽

2012 ◽

Vol 18 (2) ◽

pp. 60-62

Author(s):

MC Gonsales ◽

P Preto ◽

MA Montenegro ◽

MM Guerreiro ◽

I Lopes-Cendes

Keyword(s):

Protein Function ◽

Copy Number ◽

Mutation Screening ◽

Copy Number Variants ◽

Febrile Seizures ◽

Copy Number Variations ◽

Dravet Syndrome ◽

Missense Mutations ◽

The Impact ◽

Doose Syndrome

OBJECTIVES: The purpose of this study was to advance the knowledge on the clinical use of SCN1A testing for severe epilepsies within the spectrum of generalized epilepsy with febrile seizures plus by performing genetic screening in patients with Dravet and Doose syndromes and establishing genotype-phenotype correlations. METHODS: Mutation screening in SCN1A was performed in 15 patients with Dravet syndrome and 13 with Doose syndrome. Eight prediction algorithms were used to analyze the impact of the mutations in putative protein function. Furthermore, all SCN1A mutations previously published were compiled and analyzed. In addition, Multiplex Ligation-Dependent Probe Amplification (MLPA) technique was used to detect possible copy number variations within SCN1A. RESULTS: Twelve mutations were identified in patients with Dravet syndrome, while patients with Doose syndrome showed no mutations. Our results show that the most common type of mutation found is missense, and that they are mostly located in the pore region and the N- and C-terminal of the protein. No copy number variants in SCN1A were identified in our cohort. CONCLUSIONS: SCN1A testing is clinically useful for patients with Dravet syndrome, but not for those with Doose syndrome, since both syndromes do not seem to share the same genetic basis. Our results indicate that indeed missense mutations can cause severe phenotypes depending on its location and the type of amino-acid substitution. Moreover, our strategy for predicting deleterious effect of mutations using multiple computation algorithms was efficient for most of the mutations identified.

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The association between health conditions and cannabis use in patients with opioid use disorder receiving methadone maintenance treatment

BJPsych Open ◽

10.1192/bjo.2019.78 ◽

2019 ◽

Vol 5 (6) ◽

Author(s):

Ieta Shams ◽

Nitika Sanger ◽

Meha Bhatt ◽

Tea Rosic ◽

Candice Luo ◽

...

Keyword(s):

Anxiety Disorders ◽

Methadone Maintenance Treatment ◽

Odds Ratio ◽

Maintenance Treatment ◽

Methadone Maintenance ◽

Current Treatment ◽

Opioid Use Disorder ◽

Cannabis Use ◽

Health Conditions ◽

Opioid Use

Background Cannabis is the most commonly used substance among patients in methadone maintenance treatment (MMT) for opioid use disorder. Current treatment programmes neither screen nor manage cannabis use. The recent legalisation of cannabis in Canada incites consideration into how this may affect the current opioid crisis. Aims Investigate the health status of cannabis users in MMT. Method Patients were recruited from addiction clinics in Ontario, Canada. Regression analyses were used to assess the association between adverse health conditions and cannabis use. Further analyses were used to assess sex differences and heaviness of cannabis use. Results We included 672 patients (49.9% cannabis users). Cannabis users were more likely to consume alcohol (odds ratio 1.46, 95% CI 1.04–2.06, P = 0.029) and have anxiety disorders (odds ratio 1.75, 95% CI 1.02–3.02, P = 0.043), but were less likely to use heroin (odds ratio 0.45, 95% CI 0.24–0.86, P = 0.016). There was no association between cannabis use and pain (odds ratio 0.98, 95% CI 0.94–1.03, P = 0.463). A significant association was seen between alcohol and cannabis use in women (odds ratio 1.79, 95% CI 1.06–3.02, P = 0.028), and anxiety disorders and cannabis use in men (odds ratio 2.59, 95% CI 1.21–5.53, P = 0.014). Heaviness of cannabis use was not associated with health outcomes. Conclusions Our results suggest that cannabis use is common and associated with psychiatric comorbidities and substance use among patients in MMT, advocating for screening of cannabis use in this population. Declaration of interest None.

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Prevalence of Medical Cannabis Use and Associated Health Conditions Documented in Electronic Health Records Among Primary Care Patients in Washington State

JAMA Network Open ◽

10.1001/jamanetworkopen.2021.9375 ◽

2021 ◽

Vol 4 (5) ◽

pp. e219375

Author(s):

Theresa E. Matson ◽

David S. Carrell ◽

Jennifer F. Bobb ◽

David J. Cronkite ◽

Malia M. Oliver ◽

...

Keyword(s):

Primary Care ◽

Electronic Health Records ◽

Washington State ◽

Cannabis Use ◽

Health Conditions ◽

Medical Cannabis ◽

Health Records ◽

Primary Care Patients ◽

Electronic Health

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Negative Clusters Associated With Cannabis Use: Tangled Up in Blues

Innovation in Aging ◽

10.1093/geroni/igab046.1964 ◽

2021 ◽

Vol 5 (Supplement_1) ◽

pp. 511-511

Author(s):

Hyojung Kang

Keyword(s):

Mental Health ◽

Older Adults ◽

Health Outcomes ◽

Cannabis Use ◽

Health Conditions ◽

Positive Outcomes ◽

Negative Outcomes ◽

Medical Cannabis ◽

Negative Health Outcomes ◽

Bell Shaped Curve

Abstract Previous studies concerning older adults have focused on whether cannabis use leads to positive or negative outcomes. In this study, we identified clusters of negative health outcomes associated with medical cannabis use. In total, we examined eight health outcomes: pain, sleep, falls, memory, digestive issues, mental health conditions, exercise, and general productivity reported by 2,968 persons over 60 who participated in the Illinois Medical Cannabis Program. We used association analysis to simultaneously identify groups of negative outcomes reported by participants. The distribution of non-positive outcomes shows a bell-shaped curve: 1.4% of participants responded that cannabis use improved all outcomes, while 4.1% of participants answered that cannabis use did not. When looking at negative outcomes, 86% of participants reported none worsened, and 11% reported one of the outcomes was affected. Only a small fraction of the participants (3%) claimed more than one negative outcomes after cannabis use.

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Prevalence of Behavioral Health Conditions Across Frequency of Cannabis Use Among Adult Primary Care Patients in Washington State

Journal of General Internal Medicine ◽

10.1007/s11606-018-4558-8 ◽

2018 ◽

Vol 33 (11) ◽

pp. 1833-1835 ◽

Cited By ~ 6

Author(s):

Gwen T. Lapham ◽

Amy K. Lee ◽

Ryan M. Caldeiro ◽

Joseph E. Glass ◽

David S. Carrell ◽

...

Keyword(s):

Primary Care ◽

Behavioral Health ◽

Washington State ◽

Cannabis Use ◽

Health Conditions ◽

Primary Care Patients

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SCN1A Mutation—Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis

Frontiers in Neurology ◽

10.3389/fneur.2021.743726 ◽

2021 ◽

Vol 12 ◽

Author(s):

Jiangwei Ding ◽

Xinxiao Li ◽

Haiyan Tian ◽

Lei Wang ◽

Baorui Guo ◽

...

Keyword(s):

Rett Syndrome ◽

Gene Mutations ◽

Febrile Seizures ◽

Autism Spectrum ◽

Epileptic Encephalopathy ◽

West Syndrome ◽

Dravet Syndrome ◽

Scn1a Mutation ◽

Febrile Seizures Plus ◽

Doose Syndrome

Background:SCN1A is one of the most common epilepsy genes. About 80% of SCN1A gene mutations cause Dravet syndrome (DS), which is a severe and catastrophic epileptic encephalopathy. More than 1,800 mutations have been identified in SCN1A. Although it is known that SCN1A is the main cause of DS and genetic epilepsy with febrile seizures plus (GEFS+), there is a dearth of information on the other related diseases caused by mutations of SCN1A.Objective: The aim of this study is to systematically review the literature associated with SCN1A and other non-DS-related disorders.Methods: We searched PubMed and SCOPUS for all the published cases related to gene mutations of SCN1A until October 20, 2021. The results reported by each study were summarized narratively.Results: The PubMed and SCOPUS search yielded 2,889 items. A total of 453 studies published between 2005 and 2020 met the final inclusion criteria. Overall, 303 studies on DS, 93 on GEFS+, three on Doose syndrome, nine on the epilepsy of infancy with migrating focal seizures (EIMFS), six on the West syndrome, two on the Lennox–Gastaut syndrome (LGS), one on the Rett syndrome, seven on the nonsyndromic epileptic encephalopathy (NEE), 19 on hemiplegia migraine, six on autism spectrum disorder (ASD), two on nonepileptic SCN1A-related sudden deaths, and two on the arthrogryposis multiplex congenital were included.Conclusion: Aside from DS, SCN1A also causes other epileptic encephalopathies, such as GEFS+, Doose syndrome, EIMFS, West syndrome, LGS, Rett syndrome, and NEE. In addition to epilepsy, hemiplegic migraine, ASD, sudden death, and arthrogryposis multiplex congenital can also be caused by mutations of SCN1A.

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