Last modified: 2022-09-03
Abstract
Angelman Syndrome (AS) is a relatively rare neuro-genetic disorder characterized by intellectual and developmental delay. It is a classic example of genomic imprinting caused by the deletion or inactivation of genes in the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced. Recently, there has been increasing awareness of AS throughout the world as seen in parent-based support groups in many countries. However, only few reports have been documented in Africa with none of them from Nigeria. Multidisciplinary approach has been suggested in the management of Angelman Syndrome like many other paediatric conditions and its clinical presentation has indicated physiotherapy. In this article, we report a case of an 8-year old male child with Angelman Syndrome, who presented with physical and intellectual developmental delay; including inability to walk, hyperactivity and insomnia. Patient was managed within the context of physiotherapy in a developmental centre in Lagos, Nigeria. After 24 weeks of structured habilitation programme which included the use of NDT, Aquatic therapy and functional training; patient showed clinically significant improvement in muscle tone and functional performance with report of improved sleep as early as the 4th week of therapy. Written informed consent was sought and obtained from the mother for this report.
Keywords: Angelman syndrome, neuro-genetics, genome, chromosome, physiotherapy