DiGeorge Syndrome With Absence of Speech: A Rare Case.

Abstract

DiGeorge syndrome (DGS) is a rare genetic disorder caused by a deletion or abnormality of a small piece of chromosome 22. This condition can affect multiple organs in the body, including the heart, thymus, and parathyroid glands. While speech and language difficulties are common in individuals with DGS, the complete absence of speech is a rare presentation. This case report presents the clinical features and management of a child with DGS who presented with an absence of speech. The child underwent a multidisciplinary intervention approach, including speech and language therapy, occupational therapy, and special education, to improve their communication skills, motor coordination, sensory integration, academic performance, and social skills. The interventions resulted in some improvement in their overall function; however, speech improvement was not significant. This case report contributes to the literature on DGS by highlighting the potential underlying causes of speech and language difficulties in patients with this condition, and the possible etiologies that may lead to acomplete absence of speech, which is a severe manifestation. It also emphasizes the importance of early recognition and intervention with a multidisciplinary approach to management, as early intervention can lead to better outcomes for patients with DGS.