Psychosis as a presentation of physical disease in adolescence: a case of Niemann-Pick disease, type C.

This study reports the case of a 16-year-old male who presented with a history of prominent psychotic symptoms and paranoid delusions which overshadowed subtle signs and symptoms of cognitive and motor dysfunction. Intensive neurobehavioral and biochemical investigations eventually led to the diagnosis of Niemann-Pick disease, type C (NPC), an autosomal recessively inherited storage disease that is associated with the accumulation of cholesterol in lysosomes and difficulties in the processing of exogenously derived cholesterol. Clues to the presence of a neurological disorder included: a history of insidiously declining academic and athletic performance which antedated the onset of psychosis; abnormalities on mental status examination, including psychomotor slowing, memory difficulties, and impairment of higher attentional functions; physical findings of subtle downgaze impairment, mild symmetrical hyperreflexia, and lower-extremity hypertonia with flexor plantar responses, marked impairment of upper-extremity rapid alternating movements, action tremor, and bilateral posturing with stress gait maneuvers. This case demonstrates the importance of careful and persistent neurodiagnostic evaluation in adolescents with psychotic presentations, particularly when cognitive and motor deterioration is suspected, and even when head CT and MRI scans are judged to be normal.

Relationships among academic, neuropsychological, and intellectual status in subtypes of adults with learning disability.

A study was conducted of 102 adults with learning disability for the purposes of (1) contrasting a rule-based with an empirical method of classification into subtypes based on academic achievement levels in reading and arithmetic; and (2) examining cognitive profiles obtained with the Luria-Nebraska Neuropsychological Battery and the Wechsler Adult Intelligence Scale-Revised (WAIS-R) associated with each of the rule and empirically based subtypes. Both similarities and differences were found between classification methods. Both methods indicated that specific reading disability was associated with the most impaired cognitive profiles of the three subtypes identified. However, they did not agree concerning cognitive profiles of subtypes, characterised by a specific arithmetic deficit or a global deficit. It was found that both the Lurid-Nebraska and WAIS-R profiles distinguished among subtypes more by pattern than by level of performance.

Clomipramine treatment of stereotypic behaviors and self-injury in patients with developmental disabilities.

The authors report an open clinical trial of clomipramine for chronic stereotypic and self-injurious behaviors in 11 consecutive patients with concomitant developmental disorders. Ten patients (91%) had marked decreases in rates of target behaviors. No seizures occurred despite the inclusion of six patients with previous histories of epileptic events, and improvement was evident regardless of level of mental retardation. These findings support both the clinical use of serotonergic medications in this population and the need for further research.