Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...

Purpose: Developmental coordination disorder (DCD) is common among intellectual disability children that can worsen motor problems, especially motor skills. The purpose of the study was to examine the effect of combining core stability exercises with coordination exercises on Motor Proficiency of the intellectual disability children with DCD. Methods: The population was intellectual disability...

BACKGROUND Investigation of patients, particularly children, with unexplained global developmental delay (GDD)/learning disability (LD) has been challenging due to a lack of clear guidance from specialised centres. Limited knowledge of rare diseases and a poor understanding of the purpose or limitations of appropriate investigations have been some of the principal reasons for this difficulty. ...

AIM There are substantial differences in the amount of research concerned with different disorders. This paper considers why. METHODS Bibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental disorders: Developmental dyslexia, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairmen...

how to cite this article: karimzadeh p, ahmadabadi f, jafari n, jabbehdari s, alaee mr, ghofrani m, taghdiri mm, tonekaboni sh. biotinidase deficiency: a reversible neurometabolic disorder (an iranian pediatric case series). iran j child neurol. 2013 autumn; 7(4):47- 52.   objective biotinidase deficiency is one of the rare congenital metabolic disorders with autosomal recessive inheritance. if...

how to cite this article: karimzadeh p, jafari n, ahmad abadi f, jabbehdari s, taghdiri mm, alaee mr, ghofrani m, tonekaboni sh, nejad biglari h. propionic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder. iran j child neurol. 2014 winter; 8(1):58-61.   objective propionic acidemia is one of the rare congenital neurometabolic disorders with autosomal recessive inher...