ABSTRACT
Cerebrotendinous xanthomatosis (CTX) is a rare inborn disorder of sterol storage with autosomal recessive inheritance and a variable clinical presentation. We describe two siblings with an early psychiatric presentation of CTX-associated attention-deficit/hyperactivity disorder and oppositional defiant disorder, also associated with a mild intellectual disability and major behavioral impairments. In both cases, treatment with chenodeoxycholic acid improved externalized symptoms and a partial recovery of cognitive impairments was observed. This suggests that CTX is potentially reversible, demonstrating the need for early diagnosis and treatment of this disorder before irreversible neurological lesions can occur.
Subject(s)
Chenodeoxycholic Acid/therapeutic use , Gastrointestinal Agents/therapeutic use , Xanthomatosis, Cerebrotendinous/drug therapy , Xanthomatosis, Cerebrotendinous/physiopathology , Adolescent , Attention Deficit Disorder with Hyperactivity/drug therapy , Attention Deficit Disorder with Hyperactivity/etiology , Attention Deficit and Disruptive Behavior Disorders/drug therapy , Attention Deficit and Disruptive Behavior Disorders/etiology , Child , Cognition Disorders/drug therapy , Cognition Disorders/etiology , Female , Humans , Male , SiblingsABSTRACT
Reading therapy has been shown to be effective in treating reading disabilities (RD) in dyslexic children, but little is known of its use in subjects with mild mental retardation (MR). Twenty adult volunteers, with both RD and mild MR, underwent 60 consecutive weeks in a cognitive remediation program, and were compared with 32 untreated control subjects. The experimental group showed a significant improvement in word identification, as measured by oral production (p=0.0004) or silent reading (p=0.023), and sentence comprehension (p=0.0002). Adults with MR appear to benefit from new approaches in the field of RD.
