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.