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1.
Science ; 367(6477): 569-573, 2020 01 31.
Article in English | MEDLINE | ID: mdl-32001654

ABSTRACT

Africa, the ancestral home of all modern humans, is the most informative continent for understanding the human genome and its contribution to complex disease. To better understand the genetics of schizophrenia, we studied the illness in the Xhosa population of South Africa, recruiting 909 cases and 917 age-, gender-, and residence-matched controls. Individuals with schizophrenia were significantly more likely than controls to harbor private, severely damaging mutations in genes that are critical to synaptic function, including neural circuitry mediated by the neurotransmitters glutamine, γ-aminobutyric acid, and dopamine. Schizophrenia is genetically highly heterogeneous, involving severe ultrarare mutations in genes that are critical to synaptic plasticity. The depth of genetic variation in Africa revealed this relationship with a moderate sample size and informed our understanding of the genetics of schizophrenia worldwide.


Subject(s)
Schizophrenia/ethnology , Schizophrenia/genetics , Synaptic Transmission/genetics , Age Factors , Autistic Disorder/genetics , Bipolar Disorder/genetics , Dopamine/physiology , Female , Genetic Variation , Glutamine/physiology , Humans , Male , Mutation , Neural Pathways/physiopathology , Schizophrenia/physiopathology , Sex Factors , South Africa/ethnology , Synapses/physiology , gamma-Aminobutyric Acid/physiology
2.
Afr J Psychiatry (Johannesbg) ; 16(5): 364-70, 2013 Sep.
Article in English | MEDLINE | ID: mdl-24051670

ABSTRACT

OBJECTIVE: Poor adherence to medications, including psychotropic medications contributes to the burden of disease. Mental health service users (MHSU) may also not attend follow-up appointments at their health care facilities where they could discuss adherence with their health care provider. This paper reports on preliminary qualitative research preceding a randomised controlled trial that aims to improve adherence to psychotropic medication and to follow up treatment visits. The intervention will entail the support of individuals with serious mental disorder by a treatment partner and short message service (SMS) text messaging. METHODS: The preliminary research reported in this paper aimed to extract views about the intervention from both mental health service users (MHSU) and caregivers through focus group discussions and individual interviews. Data were analysed using ATLAS TI qualitative software. RESULTS: The caregivers interviewed were all mothers of MHSU who took measures to encourage adherence. They held mixed opinions on whether the treatment partner should be a family member. Most participants expressed the view that due to living conditions, family members were natural treatment partners, but others stated that they would prefer a treatment partner who was not a family member. Similarly, while most MHSU supported the idea of a treatment partner, a minority were concerned that a treatment partner may potentially be too controlling and compromise their autonomy. The vast majority of participants supported SMS text messaging as a means of reminding MHSU to take their medication and attend follow-up appointments. One participant mentioned the importance of broader social inclusion issues that should be incorporated in the intervention. CONCLUSION: Qualitative research may provide useful insights for the design of interventions of this nature related to social inclusion randomised control trials with its focus on adherence.


Subject(s)
Caregivers/psychology , Delivery of Health Care , Medication Adherence , Mental Disorders , Text Messaging , Adult , Cost of Illness , Delivery of Health Care/methods , Delivery of Health Care/trends , Female , Humans , Male , Mental Disorders/psychology , Mental Disorders/therapy , Mental Health Services , Qualitative Research , Reminder Systems , Social Support , South Africa
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