Exploring Traits of Autism and Their Impact on Functional Disability in Children with Somatic Symptom Disorder.

Subclinical traits of autism were measured in children with somatic symptom disorder (SSD, n = 28) and compared with age-matched controls (n = 26) using the Autism Spectrum Quotient (AQ) children's version. The KINDLR quality of life questionnaire was used to assess functional disability. Although there was no significant group difference in total traits of autism, SSD group had significantly greater difficulty in attention switching domain. Logistic regression analysis confirmed attention switching and age were associated with increased likelihood of SSD. In SSD group, difficulty in attention switching significantly negatively correlated with total, family, and friends quality of life scores. In conclusion, assessment and treatment targeting difficulties in attention switching could be useful when dealing with children with SSD.

A family having type 2B von Willebrand disease with a novel VWF p.R1308S mutation: Detection of characteristic platelet aggregates on peripheral blood smears as the key aspect of diagnosis.

Type 2B von Willebrand disease (VWD) is frequently associated with distinct platelet morphology. Here we present a familial case of type 2B VWD with a novel VWF mutation (p.R1308S), which caused neonatal thrombocytopenia. The mother had been treated for refractory immune thrombocytopenia (ITP) for more than 20years. The most important hematological features of this case were large platelets and platelet aggregates detected on peripheral blood smears. Hemostatic tests showed enhanced ristocetin-induced platelet agglutination at low-ristocetin concentrations, absence of high-molecular weight von Willebrand factor (VWF) multimers, and low VWF cofactor activity/antigen ratio. In patients with intractable ITP, family history of ITP and consecutive neonatal thrombocytopenia, the differential diagnosis of congenital thrombocytopenia is mandatory. For this purpose, the identification of large platelets and platelet aggregates on peripheral blood smears is the key aspect of type 2B VWD diagnosis.