SM Members Testing in children Chromosomal microarray analysis may be MEDICALLY NECESSARY for diagnosing a genetic abnormality in children with apparent nonsyndromic cognitive developmental delay/intellectual disability (DD/ID) or autism spectrum disorder (ASD) according to accepted Diagnostic and Statistical Manual of Mental Disorders-IV criteria when all of the following conditions are met (s...

OBJECTIVE To report the clinical profile of children with mental retardation and developmental delay diagnosed by the Child Assessment Service. DESIGN Retrospective study. SETTING Child Assessment Service, Department of Health, Hong Kong. PARTICIPANTS Data pertaining to the children with mental retardation and developmental delay were drawn from an in-house clinical information system in ...

BACKGROUND Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the additional sex combs like 3 (ASXL3) gene. To date, there have been fewer than 10 reported patients. OBJECTIVES Here, we delineate the BRPS phenotype further by describing a series of 12 previously unreported patients identified by the Deciphering Developmen...

Music therapy is gaining popularity as an intervention strategy for children with developmental disabilities, including autism spectrum disorder (ASD). This study was a pilot investigation of a classroom-based music-based intervention, Voices Together®, for improving communication skills in children with ASD and children with intellectual disabilities. Four local public elementary school specia...

Readily-accessible and standardised capture of genotypic variation has revolutionised our understanding of the genetic contribution to disease. Unfortunately, the corresponding systematic capture of patient phenotypic variation needed to fully interpret the impact of genetic variation has lagged far behind. Exploiting deep and systematic phenotyping of a cohort of 197 patients presenting with h...

Neurodevelopmental disorders include a wide range of difficulties and impairments in the development cognitive and/or motor functions. The eleventh revision International Classification Diseases (ICD-11), which came out 2018 whose application should start 2022, has introduced for first time diagnostic group named neurodevelopmental disorders, consists intellectual development, developmental spe...

Fragile X syndrome (FXS) is the most frequent cause of intellectual disability after Down syndrome. It is caused by the expansion of an unstable cysteineguanine-guanine (CGG) trinucleotide repeat on the 5’ untranslated region of the fragile X mental retardation-1 (FMR1) gene. In full mutation (FM), the expansion is >200 CGG repeats with aberrant methylation of the promoter region causing loss o...

how to cite this article: karimzadeh p, jafari n, jabbehdari s, taghdiri mm, nemati h, saket s, alaee mr, ghofrani m, tonakebni sh. methylmalonic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder (an iranian pediatric case series). iran j child neurol. 2013 summer; 7(3): 63-66.   objective methylmalonic acidemia is one of the inborn errors of metabolism resulting in ...

The risk of autism spectrum disorder varies by maternal race-ethnicity, immigration status, and birth region. In this retrospective cohort study, Western Australian state registries and a study population of 134 204 mothers enabled us to examine the odds of autism spectrum disorder with intellectual disability in children born from 1994 to 2005 by the aforementioned characteristics. We adjusted...

A septum pellucidum cyst is defined as a fluid collection between the lateral ventricles whose walls have curvature and are separated by 10 mm or more . Most of these cysts benign their clinical significance should be considered neurodevelopmental anomaly that may contribute to neuropsychiatric abnormalities It often incidental finding, little significance. However, an association this developm...