Elective mutism, generalized seizures, developmental delay, mild mental retardation, dysmorphic features and renal dystopia in a 13-year-old boy - a case report

Introduction: Elective Mutism (EM) is an underdiagnosed psychiatric disorder in children of unclear prevalence. Anxiety is considered as the main aetiological factor. Several risk factors have been identified to promote the manifestation of EM. Complicating the clinical picture is the fact that children with EM represent a heterogeneous group with a number of additional childhood disorders. Case report: We report on a 13-year-old boy with increasing lethargy and inactivity, reduced verbal communication and oppositional-defiant and aggressive behaviour in the family setting. His past medical history reported a renal dystopia, severe speech and motor developmental delay and generalized seizures. He suffered from nocturnal enuresis until the age of 11. His cognitive abilities were impaired and have been rated as a state of mild mental retardation. Distinctive abnormalities of his facial features were suggestive for a genetic aetiology. During our psychiatric assessment he demonstrated excessive shyness and answered questions at most with one whispered word. Evaluation using self-rating scales revealed high scores of social anxiety and depression. His anxious and avoidant behaviour has been observed since kindergarten, where he remained inactive and mute, suffering from intense separation anxiety. He hardly communicated verbally in the classroom during primary school, only interacting and communicating with peers when considering himself being unheard and unobserved by adults. At home he spoke uninhibited with his family. Combined cognitive-behavioural and speech therapy treatment focusing on reducing anxiety and promoting verbal communication proved effective but revealed considerable expressive and receptive language deficits.