[Behavioral and neuropsychological phenotype of the 48XXYY syndrome: a longitudinal study of a case].
BACKGROUND
The 48XXYY syndrome is a clinical condition which has been little studied from the neuropsychological and neuropsychiatric points of view. We have not found any follow-up studies in the literature. The treatment used to date has not been successful.


METHODS
We made a longitudinal study of a boy with the 48XXYY syndrome. Neuropsychiatric evaluation was done when he was 6, 8, 10 and 12 years old. The course followed, both in conduct (bulimia, anorexia, disinhibition, depression, social isolation and heteroaggressivity) and in neuropsychology (evaluated using WISC-R and the Continuous Performance Test), was of progressive deterioration of sustained attention and also on the subscales of comprehension, arithmetic, similarities, vocabulary and WIS-R keys. On EEG there was hypofrontality and theta-delta activity in the occipito-parieto-temporal regions of both hemispheres. In the brainstem a low voltage IV wave was seen in the OI. The metabolic alterations were: hyperserotoninemia and hyperuricemia. On CAT there were lesions giving increased signals in the occipital horns. Prescription of risperidone at a dose of 2 mg/day led to improved behavior (with less heteroaggressivity and social isolation) and improved neurocognition (arithmetic, similarities and keys) with no modification of EEG activity.


CONCLUSIONS
From the neuropsychological and behavior measurements and the clinical data in the bibliography, we suggest (for the first time) that there is a conduct and neuropsychological phenotype corresponding to this syndrome, although confirmation of this will require a larger number of longitudinal studies. Risperidone at a low dosage has been shown to be effective in controlling alterations of conduct and neuropsychology.
Díaz-Atienza
J
J
Unidad de Psiquiatría Infantil, C.H. Torrecárdenas, Centro Periférico de Especialidades, Almería, España. j.atienza@lei.servicom.es
Blánquez-Rodríguez
M P
MP
D000293:Adolescent; D000929:Antidepressive Agents, Tricyclic / Q000627:therapeutic use; D014150:Antipsychotic Agents / Q000627:therapeutic use; D001921:Brain / Q000503:physiopathology; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003072:Cognition Disorders / Q000175:diagnosis* / Q000235:genetics; D019955:Conduct Disorder / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D003937:Diagnosis, Differential; D004569:Electroencephalography; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009483:Neuropsychological Tests; D010641:Phenotype; D018967:Risperidone / Q000627:therapeutic use; D013577:Syndrome
D000929:Antidepressive Agents, Tricyclic; D014150:Antipsychotic Agents; D018967:Risperidone