adrenoleukodystrophy; hereditary central nervous system demyelinating diseases; mental disorders; psychotic disorders; behavioral therapy; tactile communication; child and adolescent psychiatry, aggressive behavior; quality of life


Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Nervous System Diseases | Psychiatry


The childhood cerebral form of adrenoleukodystrophy (ALD) causes rapid demyelination of cerebral white matter and is clinically characterized by hyperactivity, emotional changes, and poor school performance, as well as progressive cognitive, visual, auditory, speech, and motor decline. While aggressive behavior is a known complication of ALD, treatment of the disease is limited. Moreover, behavioral management is not well described in the available literature, particularly from a psychiatric standpoint. In this case presentation, the patient’s parents reported significant agitation and aggression, which may have been secondary to verbal deficits, in addition to the general neuropathological implications of this disease. Although this patient’s previously prescribed pharmacotherapy was controlling most of his symptoms, the parents were understandably resistant to a treatment strategy that was so sedating. Therefore, modifications in the patient’s original medical therapy were made, including a 50% decrease in his risperidone dosage. He was also referred to a behavioral therapist specializing in autism and speech therapy. He received Applied Behavior Analysis therapy, which was modified to teach a simplified method of communication using shapes identified by tactile sensation. At his 7-month follow-up, the parents reported noticeable improvement in the child’s behavior and communication as well as fewer episodes of aggression. Quality of life is of the utmost importance for patients with such a limited life span. Medical care must be individualized for patients with ALD in ways that will enhance their quality of life, focusing on counseling, behavioral management, and interventions designed to address communication difficulties and strengthen social relationships.