Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

Background: KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. Both loss-of-function sequence variants and large deletions (copy number variations, CNVs) involving cause KBG syndrome, but no genotype-phenotype correlation has been reported.

Methods: 67 patients with KBG syndrome were assessed using a custom phenotypical questionnaire.

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in . The clinicoradiological phenotype encompassed a spectrum of Aicardi-Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in five families.

[The influence of different diagnostic criteria and the culture on the prevalence of attention deficit hyperactivity disorder].

Aim: To compare the prevalence of attention deficit disorder and hyperactivity disorder (ADHD) using different diagnostic criteria (DSM-IV-TR versus ICD-10) and two specific scales based on DSM IV (ADHD-IV Rating Scales and SNAP-IV p90) in school-age children (6-12 years).

Patients And Method: . A population-based study applying stratified multistage sample design (by courses), proportional to the type of school (public, private and enterd) and demographic areas (rural, city).