Descriptive study of cases of schizophrenia in the Malian population.

BACKGROUND: Schizophrenia is a relatively common disease worldwide with a point prevalence of around 5/1000 in the population. The aim of this present work was to assess the demographic, clinical, familial, and environmental factors associated with schizophrenia in Mali. METHODS: This was a prospective descriptive study on a series of 164 patients aged at least 12 years who came for a follow-up consultation at the psychiatry department of the University Hospital Center (CHU) Point G in Mali between February 2019 and January 2020 for schizophrenia spectrum disorder as defined by DSM-5 diagnostic criteria. RESULTS: Our results revealed that the male sex was predominant (80.5%). The 25-34 age group was more represented with 44.5%. The place of birth for the majority of our patients was the urban area (52.4%), which also represented the place of the first year of life for the majority of our patients (56.1%). We noted that the unemployed and single people accounted for 56.1 and 61% respectively. More than half of our patients 58.5% reported having reached secondary school level. With the exception of education level, there was a statistically significant difference in the distribution of demographic parameters. Familial schizophrenia cases accounted for 51.7% versus 49.3% for non-familial cases. The different clinical forms were represented by the paranoid form, followed by the undifferentiated form, and the hebephrenic form with respectively 34, 28 and 17.1%. We noted that almost half (48.8%) of patients were born during the cold season. Cannabis use history was not observed in 68.7% of the patients. The proportions of patients with an out-of-school father or an out-of-school mother were 51.2 and 64.2%, respectively. CONCLUSION: The onset of schizophrenia in the Malian population has been associated with socio-demographic, clinical, genetic and environmental characteristics.

Mental health capacity building in Mali by training rural general practitioners and raising community awareness.

INTRODUCTION: despite the high prevalence and significant burden of mental disorders, they remain grossly under-diagnosed and undertreated. In low-income countries, such as Mali, integrating mental health services into primary care is the most viable way of closing the treatment gap. This program aimed to provide a mental health training intervention to rural general practitioners (GPs), to organize community awareness activities, and to evaluate the impact on mental health knowledge and through the number of new patients diagnosed with mental disorders and managed by these general practitioners. METHODS: a pre-test/post-test design and the monthly monitoring of the number of new patients diagnosed with mental disorders by the trained GPs were used to evaluate the effect of the training interventions (two face-to-face group training workshops followed by individual follow-up supervisions) and of the community awareness activities. RESULTS: the mean knowledge score of the 19 GPs who completed the initial 12-day group training raised from 24.6/100 at baseline, to 61.5/100 after training (p<0.001), a 150% increase. Among them, sixteen completed the second 6-day group training with a mean score increasing from 50.2/100 to 70.1/100 (p<0.001), a 39.6% improvement. Between July 2018 and June 2020, 2,396 new patients were diagnosed with a mental disorder by the 19 GPs who took part in the program. CONCLUSION: despite limited data regarding the effect of the community awareness component at this stage, the findings from this study suggest that the training intervention improved GPs' knowledge and skills, resulting in a significant number of new patients being identified and managed.

Epilepsy Research in Mali: A Pilot Pharmacokinetics Study on First-Line Antiepileptic Drug Treatment.

BACKGROUND AND PURPOSE: The indication and benefit of plasma level of antiepileptic (AEDs) has been debating in the monitoring of people living with epilepsy and the epilepsy treatment gap has largely been documented in developed countries. This study was aimed to highlight the epilepsy treatment gap between rural and urban Mali. METHODS: We conducted a pilot study on AEDs treatment from September 2016 to May 2019. For 6 months, 120 children and young adults living with epilepsy (rural site, 90; urban site, 30) received phenobarbital, valproic acid and/or carbamazepine. At our rural study site, we determined the AED plasma levels, monitored the frequency, severity and the duration of seizure, and administered monthly the McGill quality of life questionnaire. At our urban study site, each patient underwent an electroencephalogram and brain computed tomography scan without close monitoring. RESULTS: At the rural study site, patients were mostly on monotherapy; AED levels at 1 month (M1) (n=90) and at 3 months (M3) (n=27) after inclusion were normal in 50% at M1 versus 55.6% at M3, low in 42.2% at M1 versus 33.3% at M3 and high in 7.8% at M1 versus 11.1% at M3. AED levels at M1 and at M3 were significantly different p<0.0001. By M3, seizures (n=90) were <1/month in 26.7%, and lasted less than 1 minute in 16.7%. After a yearlong follow up, all 90 patients reported a good or excellent quality of life. At our urban study site, patients (n=30) were on carbamazepine and valproid acid in 66.67% and monotherapy (carbamazepine) in 33.33%. By November 2018, only six out 30 patients (on bi-therapy) were still taking their medications. CONCLUSIONS: Epilepsy diagnostic and treatment are a real concern in Mali. Our data showed appropriate AED treatment with close follow up resulted in a better quality of life of patients in rural Mali. We will promote the approach of personalized medicine in AED treatment in Mali.

Validation of two parent-reported autism spectrum disorders screening tools M-CHAT-R and SCQ in Bamako, Mali.

BACKGROUND: Early screening is crucial for early autism spectrum disorders (ASD) diagnosis and intervention. ASD screening tools have mostly been constructed based on the Western cultural context. We hypothesized that their use in Mali may require a prior validation. OBJECTIVE: To validate the modified checklist for autism in toddlers-Revised (M-CHAT-R) and the social communication questionnaire (SCQ) in the Malian sociocultural context for ASD screening. STUDY DESIGN: We administered M-CHAT-R and SCQ in 947 toddlers aged 16-30 months old at the district and community health centers in Bamako and 120 patients (60 autistic and 60 age and sex matched controls) aged ≥4 years old at the psychiatry department in Bamako. Toddlers at moderate to high risk of ASD underwent M-CHAT-R/F and clinical evaluation by an ASD multidisciplinary team. M-CHAT-R and SCQ were evaluated for cultural appropriateness by Malian anthropologists. The sensitivity, specificity, PPV, NPV were determined for both M-CHAT-R and SCQ. Health professionals have been trained during ASD seminary on how to use M-CHAT-R and SCQ for ASD screening in Bamako. RESULTS: We found for the M-CHAT-R a sensitivity of 50%, a specificity of 100%, a PPV of 100% and a NPV of 87%. The SCQ had a sensitivity of 71%, a specificity of 72%, a PPV of 73% and a NPV of 70%. We have found four out of 20 items on the M-CHAT-R that were culturally inappropriate in the Malian context. DISCUSSION: M-CHAT-R and SCQ can be used for early autism screening in Mali. In the future, we plan to train a descent number of Malian physicians in chief and pediatricians at the district hospitals across the country to integrate the early ASD screening into the national health system. CONCLUSION: M-CHAT-R has a perfect specificity and SCQ a fair diagnostic accuracy for ASD in Mali.

Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?

INTRODUCTION: Spinal muscular atrophy (SMA) and sporadic amyotrophic lateral sclerosis (SALS) are both motor neuron disorders. SMA results from the deletion of the survival motor neuron (SMN) 1 gene. High or low SMN1 copy number and the absence of SMN2 have been reported as risk factors for the development or severity of SALS. OBJECTIVE: To investigate the role of SMN gene copy number in the onset and severity of SALS in Malians. MATERIAL AND METHODS: We determined the SMN1 and SMN2 copy number in genomic DNA samples from 391 Malian adult volunteers, 120 Yoruba from Nigeria, 120 Luyha from Kenya and 74 U.S. Caucasians using a Taqman quantitative PCR assay. We evaluated the SALS risk based on the estimated SMA protein level using the Veldink formula (SMN1 copy number + 0.2 ∗ SMN2 copy number). We also characterized the disease natural history in 15 ALS patients at the teaching hospital of Point G, Bamako, Mali. RESULTS: We found that 131 of 391 (33.5%) had an estimated SMN protein expression of ≤ 2.2; 60 out of 391 (15.3%) had an estimated SMN protein expression < 2 and would be at risk of ALS and the disease onset was as early as 16 years old. All 15 patients were male and some were physically handicapped within 1-2 years in the disease course. CONCLUSION: Because of the short survival time of our patients, family histories and sample DNA for testing were not done. However, our results show that sporadic ALS is of earlier onset and shorter survival time as compared to patients elsewhere. We plan to establish a network of neurologists and researchers for early screening of ALS.