Children with Neurodegenerative Development Disorders in Uganda

Abstract

Neurodegenerative disorders in childhood are a miscellaneous group of severe disorders characterized by regression and progressive neurological degeneration with impairment of vision, hearing, speech or movement often associated with seizures, feeding difficulties and impairment of intellect. The course can be acute, rapidly progressive or slowly progressive, only disclosing its full impact over time. Neurodegenerative diseases have multiple causes including metabolic, viral, immunopathic, environmental and epileptogenic, but many lack an identifiable biochemical or metabolic cause or mechanism. Neurodegenerative disorders are an important source of childhood impairment in developing countries like Uganda due to the high prevalence of specific causes such as human immunodeficiency virus, cerebral malaria, sub-acute sclerosing panencephalitis due to measles, and the emergence of poorly understood entities such as Nodding Syndrome. Knowledge on this extremely varied group is expanding along with biochemical and genetic advances but there is currently a paucity of data in most low and middle income settings including Uganda on the number of children affected by neurodegenerative disorders and their demographic characteristics. The detection and diagnosis of childhood neurodegenerative disorders is complex and fraught with pitfalls. There is need to incorporate a rigorous history, including family history, and physical examination as an indispensable component of the diagnostic evaluation. Neurodegenerative disorders may be mistaken at the disease onset for unexplained psychiatric disturbance, cerebral palsy, epilepsy or cognitive impairment. Laboratory investigations, neuroimaging and specific tests assist in making an accurate diagnosis which is important for appropriate therapy, prognosis, and genetic counseling. Often the treatment is symptomatic but dietary restrictions may be useful in certain diseases as well as specific treatments to counteract the offending metabolites, improve or decrease abnormal enzyme function, or to off-set metabolic dysfunction. It may be possible in the future to target specific pathways with somatic gene therapy but this will require more technological advances and discoveries. A referral for genetic counseling is important due to heritability of many neurodegenerative disorders. Public health initiatives should focus on the risk of consanguineous marriages as a way to raise awareness of a preventable cause of a neurodegenerative disorder in childhood.