Coulibaly Souleymane P, Coulibaly Souleymane, Sango Hammadoun A, Cissé Lassana, Maïga Fatoumata I, Maïga Boubacar, Diarra Salimata, Diallo Seybou H, Coulibaly Thomas, Traoré Mahamadou, Guinto Cheick O, Koumaré Baba, Landouré Guida
Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako.
Service de Psychiatrie, Centre Hospitalier Universitaire du Point G, Bamako, Mali.
Ann Med Psychol (Paris). 2020 Mar;178(3):278-282. doi: 10.1016/j.amp.2018.02.018. Epub 2019 Mar 18.
Spino-cerebellar ataxia or SCA are dominant neurological diseases caused by mutations in several genes. According to social and cultural contexts, especially in populations with low education level, the advent of such diseases might generate other kinds of suffering beside those caused by the physical impairment and disability. The aim of this work was to determine the impact of this disease in patients and their relatives.
It was a qualitative approach carried out through semi-directive clinical interviews, neuropsychiatric observations and the administration of the Hamilton depression scale.
The study included a polygamous family in which mothers had 10 and 12 maternities. Neurological manifestations concerned four children of the same siblings and the father in a subtle form. The mother of these children was designated as responsible for the transmission of the disease and presented a reaction depression. Irritability, anxiety and depression reactions were observed in two patients and an unaffected brother. The advent of the disease was associated to the hatching of a latent familial conflict related to the father's status that has been established only after four years.
In a social and cultural setting of polygamy, the advent of dominant ataxia with anticipation might revive latent familial conflicts and have psychological and social repercussions on the affected individuals and their relatives.
脊髓小脑共济失调（SCA）是由多个基因突变引起的显性神经疾病。根据社会和文化背景，尤其是在教育水平较低的人群中，此类疾病的出现可能会在身体损伤和残疾所导致的痛苦之外，引发其他形式的痛苦。本研究的目的是确定这种疾病对患者及其亲属的影响。
采用定性研究方法，通过半指导性临床访谈、神经精神观察以及汉密尔顿抑郁量表测评来开展研究。
该研究纳入了一个一夫多妻制家庭，其中两位母亲分别生育了10个和12个孩子。神经系统表现以一种较为隐匿的形式出现在同一对兄弟姐妹中的4个孩子以及父亲身上。这些孩子的母亲被认定为疾病传播者，并表现出反应性抑郁。在两名患者和一名未患病的兄弟身上观察到了易怒、焦虑和抑郁反应。疾病的出现与一场潜在的家庭冲突爆发有关，这场冲突与父亲的地位有关，且在四年后才显现出来。
在一夫多妻制的社会文化背景下，显性共济失调伴遗传早现的出现可能会引发潜在的家庭冲突，并对受影响的个体及其亲属产生心理和社会影响。
