Spinal muscular atrophy in Ghanaian children confirmed by molecular genetic testing: a case series.

Spinal muscular atrophy (SMA) is an autosomal recessive inherited motor neuron disease characterized by progressive muscle weakness due to degeneration and loss of the anterior horn cells in the spinal cord and the brain stem nuclei from foetal life through infancy and childhood. SMA is prevalent in Ghanaian children, though not widely reported. Cases are likely missed or misdiagnosed due to lack of expertise and investigations. Newborn screening is not currently available in Ghana. The management remains supportive as newly approved genetic modifications therapies are currently not available. We present a retrospective folder review of children attending a tertiary pediatric neurology clinic who were diagnosed with SMA and confirmed by molecular genetic testing. Between January 2018 and August 2021, five (5) children from three families had molecular genetic tests confirming their diagnosis of SMA. Three (3) children had SMA I phenotype while 2 had SMA III phenotype. Two (2) of the 3 children with SMA I died from respiratory complications. The last surviving child with SMA I was diagnosed through newborn screening program overseas and received gene modification therapy. Careful history and physical examination remain the best approach to diagnosis as confirmatory genetic testing and supplemental investigations are not readily available. The current management of the children with SMA in Ghana include respiratory care, physiotherapy, and genetic counselling. Genetic modification therapies are currently not available.

'There is family tension, but they understand ': familial and sibling relationships following the diagnosis of cerebral palsy in children in Ghana.

The challenges faced by parents raising children with cerebral palsy (CP) have been well explored in the literature. However, little attention has been paid to the experiences of parents raising children with CP in low-income countries, such as Ghana. OBJECTIVE: Therefore, the objective of this study was to explore parents' experiences of raising children with CP, specifically focusing on the relationships between spouses and between children with CP and their typically developing siblings. METHOD: Qualitative semi-structured interviews were conducted with 40 parents, who were purposively selected from the largest tertiary hospital in Ghana. RESULTS: The results revealed that typically developing children accept their siblings with CP as their equals and even take up domestic responsibilities to lessen the burden on their parents. However, the parents reported experiencing marital and extended family conflict, financial burden and negative attitudes from spouses, resulting in family tensions. CONCLUSION: The implications of these findings for policy-making have also been discussed.

The use of assistive technologies among children with disabilities: the perception of parents of children with disabilities in Ghana.

PURPOSE: Assistive technologies (ATs) are fundamental to the successful educational and societal inclusion of all children with disabilities. In particular, the use of ATs has been found to increase levels of independence in daily living and promote greater access to learning opportunities for children with disabilities. However, the knowledge base and baseline information on the use of ATs is limited in developing countries such as Ghana. In this study, we sought to explore the experiences of parents regarding the use of ATs by their children with disabilities in Ghana. MATERIALS AND METHODS: We used a survey questionnaire consisting of both open- and closed-ended questions to explore the perspectives of parents with children with disabilities (n = 35) who were attending the rehabilitation unit of a referral hospital. RESULTS: Although participants acknowledged the benefits of ATs for the development and participation of their children in society, they noted barriers to the usage of ATs by their children. Among several barriers, parents mentioned that they lacked funds to purchase assistive devices. Some parents also mentioned the high cost of ATs and rehabilitation services. CONCLUSION: The need for government to include rehabilitation services and ATs in the National Health Insurance Scheme to ease the burden on participants and other implications of the findings for policymaking are extensively discussed. Implications for rehabilitationIn an environment where there is negative attitude towards children and parents with disabilities, ATs are expected to encourage the participation and acceptance in society.Although many participants were aware of the benefits of ATs to their children, they reported barriers to usage among their children with disabilities.This study shows that poverty, limited health facilities, unfriendly environment and stigmatisation were barriers encountered by parents.We conclude that the government should expand health and rehabilitation facilities to encourage access and participation.

Caregiving experiences and expectations of parents with in-school children with intellectual disability in Ghana.

BACKGROUND: The literature suggests that there are challenges faced by parents of children with intellectual disabilities (ID), which have resulted in calls for support services to be made available to parents and their children with ID. Although regular schools in Ghana are unable to admit students with ID, it is believed that special schools have the necessary facilities to support parents and their children with ID. However, little has been documented on the experiences and expectations of parents whose children with ID are enrolled in a special school. METHOD: In this qualitative study, one-on-one semi-structured interviews were conducted with purposively recruited parents (n = 20) from the second most populous city in Ghana to explore their caregiving experiences and expectations regarding the education of their school-going children with ID. RESULTS: Although the parents acknowledged that access to education has some benefits, such as the protection of their children with ID from negative societal attitudes and a reduction of their caregiving burden, they had low expectations for their children's education. Furthermore, the parents encountered considerable challenges in catering for their children with ID, such as financial problems and limited access to caregiving skills. CONCLUSION: There is a need to intensify efforts at public education in relation to disability acceptance as well as to develop formidable social support systems.

Experiences of primary caregivers of children with cerebral palsy across the trajectory of diagnoses in Ghana.

BACKGROUND: Cerebral palsy (CP) is a non-progressive disorder of posture or movement caused by a lesion to the developing brain that results in functional limitations. The diagnosis of CP can vary from one child to another, causing family stress because of vague and unknown outcomes of the disorder. Although there are negative attitudes in Ghanaian societies towards primary caregivers and children with disabilities, fewer attempts have been made to understand their experiences. OBJECTIVES: The main aim of this study was to explore the experiences of primary caregivers across the trajectory of the diagnosis (before, during and after) of CP in the setting of a tertiary hospital. METHOD: Using Social Capital Theory as framework, 40 primary caregivers of children with CP, who were receiving treatment at a major referral hospital in Ghana, were interviewed about their experiences before, during and after diagnosis. RESULTS: The results that emerged from the thematic analysis were discussed as follows: experiences before diagnosis, experiences during the diagnosis and experiences after the diagnosis. Particularly, participants discussed their inability to access essential services such as education for their children with CP. CONCLUSION: In light of systemic challenges faced by participants and their children with CP, the need for health policymakers to prioritise the public education about CP, promoting the well-being of caregivers and other implications of the study have been discussed.

Socio-demographic determinants of childhood immunization incompletion in Koforidua, Ghana.

OBJECTIVE: Immunization saves more than 3 million lives worldwide each year, and it saves millions from suffering illness and lifelong disability. The study sought to assess the socio-demographic factors that influence childhood immunization incompletion. A cross-sectional descriptive design was employed for the study conducted at the Child Welfare Clinic in the Regional Hospital, Koforidua. A total of 280 caregivers/mothers who have children aged between 0 and 59 months were included in this study. Data were entered and analyzed using SPSS. RESULTS: The study found that being divorced (p = 0.048) and working part-time (p = 0.049) has a significant and positive association with immunization incompletion. Women who were divorced [AOR (95% CI) 3.01 (1.59-58.2)] were 3 times less likely to complete immunization than those who were cohabiting, married and widowed taken into account the effect due to all the additional confounder variables included in the analysis. Women who were working part-time were 2.28 times less likely to complete immunization schedule than those working full-time; [AOR (95% CI) 2.28 (1.031-9.11)]. This study has documented socio-demographic factors influencing childhood immunization incompletion in the Regional Hospital, Koforidua. The Ministry of Health should, therefore, put in measures like public education to encourage mothers to complete each immunization schedule.

Microbial pathogens associated with acute childhood diarrhoea in Kumasi, Ghana.

BACKGROUND: Diarrhoeal diseases are among the most frequent causes of morbidity and mortality in children worldwide, especially in sub-Saharan Africa. This case-control study was conducted to investigate the bacterial, viral and parasitic pathogens associated with acute diarrhoea among children attending three health facilities in Kumasi, Ghana. METHODS: Stool specimens were collected from 240 children under 5 years of age visiting hospitals in Kumasi, Ghana due to acute diarrhoea and from 107 healthy controls of similar age. Both intestinal and malaria parasites were diagnosed by microscopy whereas rota- and adenoviruses were identified by stool antigen immunochromatograhic testing. Bacterial enteropathogens were detected by conventional culture techniques. RESULTS: Of all subjects, 23 (6.6%) were positive for malaria parasitaemia, 139 (40.1%) had at least one bacterial agent in their stool and 25 (7.2%) had ova or parasites. Subjects infected with malaria had the highest odds of having diarrhoea [12.0 (95% CI 1.56, 92.35)] followed by those with rotaviruses [4.4 (95% CI 2.05, 9.47)] and bacterial infection [4.99 (95% CI 1.45, 17.17)]. CONCLUSION: In conclusion, this study was unique as it looked at the three groups of pathogens (parasites, viruses and bacteria) that cause acute diarrhoea in children in the Kumasi metropolis of Ghana. This study has shown for the first time since 2004 that malaria parasitaemia, rotavirus and bacterial infections still remain common pathogens associated with acute childhood diarrhoea in the Kumasi metropolis of Ghana.

Assessment of prison life of persons with disability in Ghana.

BACKGROUND: Persons with Disabilities (PWDs) are a unique group that are often overlooked in many developing countries due to systemic weaknesses, lack of political commitment and inadequate support from government and non-governmental agencies. The population of these individuals is however steadily on the increase and currently corresponds to 15 % of the world population. Although much data exist on lifestyle and conditions of prisoners with disabilities in the western world, scanty information is available in Africa. In Ghana, there is insufficient data on the occurrence and social characteristics of prisoners with disabilities. The purpose of this current study was therefore to identify the occurrence, types and causes of disabilities among prisoners serving sentences in Ghanaian prisons. METHODS: This study was a descriptive cross-sectional survey conducted in the Male and Female Regional Prisons in Kumasi, Sunyani and the Nsawam Medium Security Prison, from November to December 2011. PWDs were selected by prisons officers and interviewed using structured questionnaires on variables such as socio-demographic characteristics, causes of disabilities and accessibility to recreational facilities. Ethical approval was obtained from the security services and the Committee of Human Research Publications and Ethics (CHRPE) of the School of Medical Sciences, Kwame Nkrumah University of Science and Technology (KNUST). RESULTS: We screened 6114 records of prisoners of which 1852 (30.3 %) were from the Kumasi Central Prisons, 3483 (57 %) from the Nsawam Medium Security and 779 (12.8 %) from the Sunyani Central Prisons. A total of 99 PWDs were identified with the commonest disability being physical, followed by visual, hearing, speech, mental and albinism. Most of the disabilities were caused by trauma (68.8 %) followed by infection (16.7 %), and drug related mental disabilities (6.3 %). Fifty (50.5 %) out of the 99 PWDs were not provided with assistive devices although they admitted the need for such. CONCLUSION: The present study has demonstrated the occurrence and conditions of PWDs in Ghanaian prisons. Major stakeholders including government agencies and other organisations could develop policies that would improve the conditions and livelihood of prisoners with disabilities in Ghana.

Perspectives in musculoskeletal injury management by traditional bone setters in Ashanti, Ghana.

BACKGROUND: The popularity of the services of traditional bone setters (TBS) in Ghana as an alternative health care requires exploration and documentation of the perspectives of providers and users. OBJECTIVE: To explore and document the perspectives of providers and users of the services of TBS in the management of musculoskeletal injuries in the Ashanti region, Ghana. METHODS: From the social constructivist and qualitative approach, in-depth interviews were used to explore the perspectives of eight TBS and 16 users of their services, selected purposively through snowballing. Thematic content analysis (TCA) was employed. RESULTS: High recovery rate, warm reception, prompt attention, and the relatively lower charges, are reported to motivate the patronage of the services of TBS for the management of fractures in the legs, arms, ribs, joint bones dislocations, waist and spinal cord problems. The TBS combined traditional and orthodox procedures, using plant and animal-based materials, beliefs, spirituality (God-given) and physical therapy in the management of musculoskeletal injuries. No adverse experience was reported by either the providers or users of the traditional management methods. CONCLUSION: With plant and animal-based materials, TBS are observed to combine traditional and orthodox procedures to confidently manage musculoskeletal injuries to the satisfaction of their highly motivated patrons. Although over 60% of the TBS attribute the healing power behind their practice to God, the rest do not discount the role of spiritual therapy. Further studies expanded to include the perspectives of non-users of the services of the TBS will authenticate the findings of this study.

Cancer incidence in Ghana, 2012: evidence from a population-based cancer registry.

BACKGROUND: Data on cancers is a challenge in most developing countries. Population-based cancer registries are also not common in developing countries despite the usefulness of such registries in informing cancer prevention and control programmes. The availability of population-based data on cancers in Africa varies across different countries. In Ghana, data and research on cancer have focussed on specific cancers and have been hospital-based with no reference population. The Kumasi Cancer Registry was established as the first population-based cancer registry in Ghana in 2012 to provide information on cancer cases seen in the city of Kumasi. METHODS: This paper reviews data from the Kumasi Cancer Registry for the year 2012. The reference geographic area for the registry is the city of Kumasi as designated by the 2010 Ghana Population and Housing Census. Data was from all clinical departments of the Komfo Anokye Teaching Hospital, Pathology Laboratory Results, Death Certificates and the Kumasi South Regional Hospital. Data was abstracted and entered into Canreg 5 database. Analysis was conducted using Canreg 5, Microsoft Excel and Epi Info Version 7.1.2.0. RESULTS: The majority of cancers were recorded among females accounting for 69.6% of all cases. The mean age at diagnosis for all cases was 51.6 years. Among males, the mean age at diagnosis was 48.4 compared with 53.0 years for females. The commonest cancers among males were cancers of the Liver (21.1%), Prostate (13.2%), Lung (5.3%) and Stomach (5.3%). Among females, the commonest cancers were cancers of the Breast (33.9%), Cervix (29.4%), Ovary (11.3%) and Endometrium (4.5%). Histology of the primary tumour was the basis of diagnosis in 74% of cases with clinical and other investigations accounting for 17% and 9% respectively. The estimated cancer incidence Age Adjusted Standardised Rate for males was 10.9/100,000 and 22.4/100, 000 for females. CONCLUSION: This first attempt at population-based cancer registration in Ghana indicates that such registries are feasible in resource limited settings as ours. Strengthening Public Health Surveillance and establishing more Population-based Cancer Registries will help improve data quality and national efforts at cancer prevention and control in Ghana.

Safety of antimalarial drugs exposure during early pregnancy.

INTRODUCTION: Inadequately controlled malaria infection in pregnancy is associated with poor maternal and fetal outcomes. However, there are important questions about drug safety for mothers with malaria and their fetuses as, currently, there is limited safety data on many of the medications used. The objective of this review is to determine from published evidence the safety of antimalarial drugs exposure during early pregnancy, focusing on abortions, stillbirths, and congenital abnormalities. METHODS: We searched PubMed, Embase, Cochrane Library, and Malaria in Pregnancy databases from their inception to June 2013, inclusive, for reports published in English only. Data were extracted on exposure to antimalarial drugs during early pregnancy and adverse pregnancy outcomes including congenital abnormalities, stillbirth, and miscarriage. RESULTS: Twenty-two publications including one abstract with a total of 6,333 early pregnancy exposures to antimalarial agents used for treatment and/or prevention of malaria in pregnancy met the inclusion criteria. More than 40% of the pregnancies were exposed to mefloquine, about 10% to artemisinin based regimens and, 15.2% and 14.7% were exposed to chloroquine and quinine, respectively. A total of 1,199 adverse outcomes including abortions, stillbirths, and congenital abnormalities were reported. The reported absolute risks of adverse outcomes were similar for all the antimalarial exposures, but, in two publications, increased risk of stillbirths was linked to mefloquine exposure. Extensive heterogeneity and variability in the way in which authors assessed, recorded, and reported safety data precluded formal meta-analysis. CONCLUSION: The absolute estimates of risks obtained in the included studies are difficult to interpret and the clinical significance of any association of adverse outcomes reported with antimalarial exposure in early pregnancy is uncertain. Well planned, executed, and analyzed studies are needed to confirm whether there is increased risk for adverse fetal outcomes attributable to exposure of first trimester pregnancies to antimalarials compared to relevant controls.