RESUMO
Coffin-Lowry syndrome (CLS) is a rare X-linked disorder that, usually affects males, presenting with intellectual disability, short stature, growth retardation, short hands, hyperextensible fingers and progressive kyphoscoliosis. Due to skewed X chromosome inactivation, the clinical presentations of the affected females vary greatly and clinical manifestations could range from mild intellectual disability to typical features of CLS in males. Here, we reported two different novel RPS6KA3 gene mutations in two unrelated CLS patients and also described concomitant compulsive eyebrow-pulling behavior in one of these cases for the first time in the literature.
Assuntos
Síndrome de Coffin-Lowry , Deficiência Intelectual , Síndrome de Coffin-Lowry/genética , Comportamento Compulsivo , Sobrancelhas , Feminino , Humanos , Deficiência Intelectual/genética , Mutação/genéticaRESUMO
We assessed the reliability and validity of the Turkish version of the autism spectrum quotient (AQ)-adolescent. Three assessment groups of adolescents, aged 11-18, were: 80 with Asperger syndrome/high-functioning autism (AS/HFA), 71 with other psychiatric disorders (PDs; 35 major depression, 18 obsessive-compulsive disorder, 18 social phobia), and 249 healthy controls. The scores of the AS/HFA group were significantly higher than the healthy control and PD groups. Cronbach α value was 0.829. Ordinal alpha value was 0.90. We showed the AQ-adolescent four-factor structure in the factor analysis. In the test-retest of AQ-adolescent and subscale scores, "very strong" significant correlation values were detected. A cut-off score of 24 best distinguished the autism group from healthy controls with 0.975 sensitivity and 0.991 specificity.