Caring by default: experiences of caregivers of children with developmental disabilities in Ghana mirrored in the context of the stress process model.

Background: Caring for a child with developmental disabilities (DD) is associated with significant stress and burden. Caregivers' experiences are influenced by factors such as poverty, stigma, and the lack of accessibility to services, equipment, and assistive devices. These factors are prevalent in a low-resource setting like Ghana which ultimately influences the experiences of caregivers.

Associations between malaria in pregnancy and neonatal neurological outcomes.

Objective: To compare neurological functioning of neonates born to mothers with and without malaria in pregnancy.

Methods: Pregnant women presenting at Korle Bu Teaching Hospital, Ghana were recruited into this prospective observational study. Malaria exposure was determined by clinically documented antenatal malaria infection; parasitemia in maternal, placental, or umbilical cord blood; or placental histology.

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.

Background: CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificity of presenting symptoms often leads to delayed diagnosis. These guidelines provide robust evidence-based, expert-agreed recommendations on the risks/benefits of disease-modifying treatments and the medical interventions used to manage this condition.

Rubinstein-Taybi syndrome in diverse populations.

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations.

Turner syndrome in diverse populations.

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 and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed.

Cornelia de Lange syndrome in diverse populations.

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, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies.

A genomic infection control study for in two Ghanaian hospitals.

Background: Whole genome sequencing analysis (WGSA) provides the best resolution for typing of bacterial isolates and has the potential for identification of transmission pathways. The aim of the study was to apply WGSA to elucidate the possible transmission events involved in two suspected hospital outbreaks in Ghana and describe genomic features of the isolates sampled in the outbreaks.

Methods: The study was carried out at Korle-Bu Teaching Hospital and Lekma Hospital where the suspected outbreaks occurred in 2012 and 2015, respectively.

Rhabdomyosarcoma in All Age Groups at the Jos University Teaching Hospital.

Background: The designation Rabdomyosarcoma (RMS) is used to describe the malignant mesenchymal neoplasm that exhibits varying degree of skeletal muscle differentiation. RMS is the commonest malignancy of soft tissues afflicting children and adolescent up until age 20. It constitutes 5-10% of pediatric malignancies, and 7-9.

Williams-Beuren syndrome in diverse populations.

Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23.

Epignathus (Palatal teratoma):A case report.

A case of a 2.7kg term baby with a large epignathus, a rare congenital teratoma arising from the palate is presented. Birth was by spontaneous vaginal delivery (SVD).

Pneumonia in Ghana-a need to raise the profile.

Despite the high mortality, pneumonia retains a relatively low profile among researchers, funders and policymakers. Here we reflect on the problems and priorities of pneumonia in Ghana, briefly review the evidence base and reflect upon in-person discussions between Southampton-based authors MGH and JB and academic, clinical and policy colleagues in Ghana. The discussions took place in Accra in August 2017.

Noonan syndrome in diverse populations.

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 other groups. In this study, individuals from diverse populations with NS were evaluated clinically and by facial analysis technology.

Colonisation of antibiotic resistant bacteria in a cohort of HIV infected children in Ghana.

Antibiotic use not only selects for resistance in pathogenic bacteria, but also in commensal flora of exposed individuals. Little is known epidemiologically about antibiotic resistance in relation to people with HIV infection in sub-Saharan Africa. This study investigated the carriage of antibiotic resistant bacteria among HIV infected children at a tertiary hospital in Ghana.

Pneumococcal carriage among HIV infected children in Accra, Ghana.

Background: Pneumococcal carriage is the precursor for development of pneumococcal disease, and is also responsible for transmission of the organism from person-to-person. In Africa, little is known about the pneumococcus in relation to people with HIV infection. The aim of the study was to investigate the epidemiology of pneumococcal carriage among HIV infected children visiting a tertiary hospital in Ghana, including the carriage prevalence, risk factors and serotype distribution.

A critical review of child abuse and its management in Africa.

Introduction: Child abuse in Africa is a major threat to the achievement of the sustainable development goals on the continent and has become increasingly topical with a dramatic increase in recognition and an appreciation of the long term harmful effects on the affected population. The aim of this review was to outline current management of child abuse (especially sexual abuse) and highlight current preventive practice that could be beneficial in a resource-limited environment.

Methods: A search of Medline and reference lists of the literature on child abuse in African countries and relevant world literature was conducted in December 2016.

Autism Spectrum Disorders in Africa: Current Challenges in Identification, Assessment, and Treatment: A Report on the International Child Neurology Association Meeting on ASD in Africa, Ghana, April 3-5, 2014.

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 in Africa under the auspices of the International Child Neurology Association and the African Child Neurology Association through guided presentations and working group reports, focusing on identification, diagnosis, management, and community support. A total of 47 delegates participated from 14 African countries.

Consanguinity and rare neurological disease. A five year experience from the Korle Bu Teaching Hospital, Accra, Ghana.

Introduction: Marriage between close biological kin is not regarded as advantageous in the western world but in other parts of the world, consanguineous unions persist. Consanguineous marriage increases the birth prevalence of individuals with recessive disorders. In Accra, Ghana, consanguinity is beginning to emerge as a significant cause of rare neurological disease at the central referral hospital at Korle Bu in Ghana.

Fetal Alcohol Syndrome In Ghana:Case Series Report From Korle Bu Teaching Hospital, Accra.

Background: Fetal Alcohol Spectrum Disorders are known to be the among leading non-genetic causes of neuro-developmental disability worldwide yet in Ghana and West Africa very little has been documented in the medical literature.

Objective: To determine if Fetal Alcohol Syndrome exists in the Ghanaian population and document its characteristics.

Methods: An active case ascertainment method was used from April 2008 to April, 2013.

First Application of Ketogenic Diet on a Child With Intractable Epilepsy in Ghana.

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 demand of operational skills. The authors planned to perform ketogenic diet therapy for the children with intractable epilepsy in Ghana with regard to its low cost and simple procedure.

Human enteroviruses are not the cause of neurological impairments in children at the Korle-Bu Teaching Hospital.

Introduction: Convulsions associated with fever and acute onset of unknown aetiology with case fatalities have become a long observed medical condition at the Child Health Department of the Korle-Bu Teaching Hospital. Children admitted to the department with seizures of undetermined origin and fever has been a source of diagnostic confusion. Studies from the Asia Pacific region suggest a link with non-polio enteroviruses.

Cri du Chat Syndrome: a case report from Ghana.

Cri du Chat Syndrome (CdCS) is rare and occurs as a result of a partial deletion in the short arm of chromosome 5. There are no reports in the literature from the West African sub-region and indeed very few from Africa. A case of Cri du Chat Syndrome is described in Ghana.

An overview of the effect and epidemiology of viral central nervous system infections in African children.

Viral infections in Africa are common. Polio still persists in the continent despite vaccination campaigns. Many of the common viral infections, such as by the nonpolio enteroviruses, lack effective therapies and leave devastating sequelae to infected neonates and infants.

Pyridoxine-dependent epilepsy: an often unrecognized but treatable cause of intractable seizures: case report from Korle Bu Teaching Hospital, Accra, Ghana.

Objective: To describe a case of pyridoxine-dependent epilepsy and developmental status after treatment.

Methods: An infant who presented with intractable seizures was given a therapeutic trial of pyridoxine. This was at the babies unit of the Korle Bu Teaching Hospital, Accra, Ghana.

Pfeiffer syndrome type 3, a rare and unusual craniosynostosis: case reports from Korle Bu Teaching Hospital, Accra, Ghana.

Background: Pfeiffer syndrome is rare in the African population and there are few if any published reports from West Africa.

Objective: To report on two cases of Pfeiffer syndrome Type 3 and summarize the clinical characteristics.

Methods: All suspected but undiagnosed genetic syndromes presenting to the Children's Department over a 10-year period were evaluated by the author.

Vaccination against pneumococcus in West Africa: perspectives and prospects.

Background: Pneumococcal vaccination has become obligatory due to the enormous burden of pneumococcal diseases. Quite recently, pneumococcal conjugate vaccines have been developed, and have been shown to be superior to the previous polyvalent polysaccharide vaccine of the organism. Pneumococcal conjugate vaccines (PCVs) are being introduced in many West African countries and it is important to understand the expected performance, relevance, and limitations of these vaccines in the subregion.