title: Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease.
abstract: Segawa disease is a rare dystonia due to autosomal dominant guanosine triphosphate cyclohydrolase I (adGTPCH) deficiency, affecting dopamine and serotonin biosynthesis. Recently, the clinical phenotype was expanded to include psychiatric manifestations, such as depression, anxiety, obsessive-compulsive disorder, and sleep disturbances. Although cognitive and neuropsychiatric symptoms may be attributable to dopamine deficiency in the prefrontal cortex and frontostriatal circuitry, intelligence is considered normal in Segawa disease. Our aim was to investigate neuropsychiatric symptoms and intelligence quotients (IQ) in a series of individuals with adGTPCH deficiency. The assessment included a structured clinical interview following the DSM-IV-TR's guidelines, Beck's Depression Inventory, the State-Trait Anxiety Inventory, the Maudsley Obsessive-Compulsive Questionnaire, the Barratt Impulsiveness Scale-11 (BIS-11), the Oviedo Sleep Questionnaire, the Pittsburgh Sleep Quality Index, and the Wechsler Adult Intelligence Scale-Third Edition. Equivalent tests were applied to pediatric patients as appropriate for their age group. Fourteen patients with adGTPCH deficiency were evaluated (seven adult and seven pediatric patients). Depression, anxiety, and obsessive-compulsive symptoms were not more common than expected in the general population. However, the seven adults showed impulsivity in the BIS-11; nine individuals had an IQ in the range of borderline intellectual functioning to mild mental retardation, and sleep disturbances were found in four individuals. We found no differences between these results and the motor impairment. In conclusion, our findings would suggest that cognitive impairment, and impulsivity in adults, may be associated with Segawa disease.
authors.affiliation: Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofia, Av. Menéndez Pidal s/n, 14004, Córdoba, Spain. elolaso@gmail.com
authors.forename: Eduardo
authors.initials: E
authors.lastname: López-Laso
authors.forename: Araceli
authors.initials: A
authors.lastname: Sánchez-Raya
authors.forename: Juan Antonio
authors.initials: JA
authors.lastname: Moriana
authors.forename: Eduardo
authors.initials: E
authors.lastname: Martínez-Gual
authors.forename: Rafael
authors.initials: R
authors.lastname: Camino-León
authors.forename: María Elena
authors.initials: ME
authors.lastname: Mateos-González
authors.forename: Juan Luis
authors.initials: JL
authors.lastname: Pérez-Navero
authors.forename: Juan José
authors.initials: JJ
authors.lastname: Ochoa-Sepúlveda
authors.forename: Aida
authors.initials: A
authors.lastname: Ormazabal
authors.forename: Thomas
authors.initials: T
authors.lastname: Opladen
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.forename: José Ignacio
authors.initials: JI
authors.lastname: Lao-Villadóniga
authors.forename: Katrin
authors.initials: K
authors.lastname: Beyer
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000235:genetics*; D020821:Dystonic Disorders / Q000150:complications* / Q000235:genetics / Q000523:psychology*; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007175:Impulsive Behavior / Q000235:genetics*; D007223:Infant; D007360:Intelligence / Q000235:genetics; D007361:Intelligence Tests; D008297:Male; D009154:Mutation; D009483:Neuropsychological Tests; D010375:Pedigree
chemical_list: D006136:GTP Cyclohydrolase