Ëben Badoe
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View article: Guidelines on the Diagnosis, Clinical Assessments, Treatment and Management for CLN2 Disease Patients
Guidelines on the Diagnosis, Clinical Assessments, Treatment and Management for CLN2 Disease Patients Open
Background : CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2), or Late-Infantile Neuronal Ceroid Lipofuscinosis (LINCL), is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl pepti…
View article: Turner syndrome in diverse populations
Turner syndrome in diverse populations Open
Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination an…
View article: Cornelia de Lange syndrome in diverse populations
Cornelia de Lange syndrome in diverse populations Open
Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes— NIPBL , SMC1A , HDAC8 , SMC3 , and RAD21 . The characteristic facial dysmorphisms include microcephaly, arched eyebrows, sy…
View article: Williams–Beuren syndrome in diverse populations
Williams–Beuren syndrome in diverse populations Open
Williams–Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethni…
View article: Noonan syndrome in diverse populations
Noonan syndrome in diverse populations Open
Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less attention given to o…
View article: Autism Spectrum Disorders in Africa: Current Challenges in Identification, Assessment, and Treatment
Autism Spectrum Disorders in Africa: Current Challenges in Identification, Assessment, and Treatment Open
Prevalence of autism spectrum disorders has increased over recent years, however, little is known about the identification and management of autism spectrum disorder in Africa. This report summarizes a workshop on autism spectrum disorder …
View article: Consanguinity and rare neurological disease. A five year experience from the Korle Bu Teaching Hospital, Accra, Ghana
Consanguinity and rare neurological disease. A five year experience from the Korle Bu Teaching Hospital, Accra, Ghana Open
Rare neurological disease occurs in West African communities as a result of consanguinity.
View article: First Application of Ketogenic Diet on a Child With Intractable Epilepsy in Ghana
First Application of Ketogenic Diet on a Child With Intractable Epilepsy in Ghana Open
The prevalence of epilepsy in sub-Saharan Africa is higher than in other parts of the world, but it is short of the effective measure on treating intractable epilepsy. Epilepsy surgery is not easy to be performed due to the high cost and d…
View article: Family Perspectives of Autism Spectrum Disorders in Urban Ghana
Family Perspectives of Autism Spectrum Disorders in Urban Ghana Open
Background: Limited research is available on Autism Spectrum Disorders (ASD) in Africa. The purpose of this study is to increase understanding of the diagnosis, treatment and education of children and adults with ASDs.Methods: Questionnair…