Navigating speech and language complexity: A case study of a child with multifaceted health conditions

Abstract

Background: Klinefelter Syndrome (KS) is a chromosomal disorder characterized by the presence of one or more extra X chromosomes, affecting males and often associated with language deficits, seizures, and increased risk of stroke. This case report examines a 2.8-year-old male, who presents with multiple health challenges, including KS, post-infectious chickenpox vasculopathy, stroke, and seizures. The child initially displayed inadequate speech and language skills and was diagnosed with right hemiparesis and right upper motor neuron facial palsy, secondary to a stroke caused by postinfectious chickenpox vasculopathy. Subsequent genetic testing confirmed KS, illustrating the combined influence of genetic and acquired factors on his development. Case procedure: Linguistic assessments revealed severe regression in both expressive and receptive language abilities following the stroke. Before the stroke, the child had typical early language milestones, but post-stroke, he exhibited significant delays, particularly in expressive language. This regression underscores the effect of stroke on language in children with underlying genetic conditions like KS, necessitating early, multidisciplinary intervention through speech-language therapy and physiotherapy. Conclusion: The case emphasizes the need for comprehensive neurorehabilitation such as speech-language therapy, physiotherapy, and continuous neurological monitoring to maximize recovery and support for the family, including counselling, education, and access to resources. Integrated care is essential to manage the psychological and practical challenges in caring for a child with complex health conditions. Further research on speech and language, and early stroke effects in children with KS is recommended to inform interventions that improve developmental outcomes and family well-being.