Paediatricians underuse recommended genetic tests in children with global developmental delay
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چکیده
منابع مشابه
cns structural anomalies in iranian children with global developmental delay
how to cite this article: zamani gh, shervin badv r, niksirat a, alizadeh h. cns structural anomalies in iranian children with global developmental delay. iran j child neurol. 2013 winter; 7 (1):25-28. objective central nervous system (cns) malformations are one of the most important causes of global developmental delay (gdd) in children. about one percent of infants with gdd have an inherite...
متن کاملCNS Structural Anomalies in Iranian Children with Global Developmental Delay
OBJECTIVE Central Nervous system (CNS) malformations are one of the most important causes of global developmental delay (GDD) in Children. About one percent of infants with GDD have an inherited metabolic disorder and 3-10 percent have a chromosomal disorder. This study aimed to survey the frequency of brain structural anomalies and their subtypes among the variety of etiologic factors in child...
متن کاملMetabolic evaluation of children with global developmental delay
Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes. Family history, physical and neurological examinations, and detailed history of environmental risk factors might suggest a specific disease. However, diagnostic laboratory tests, brain imaging, and other evidence-based evaluat...
متن کاملThe Effects of Sodium Valproate in Improving Developmental Delay in Seizure-Free Children with Abnormal Electroencephalography
Background: Developmental delay is one of the most common problems of children referred to pediatric neurology clinics. While there are reports on rehabilitation and its effects, limited studies are available to delineate pharmacotherapy of such children. Because many children with developmental delay have abnormal findings in electroencephalography, we aimed to treat a group of these children,...
متن کامل4-Hydroxybutyric Aciduria as a Rare Presentation of Global Developmental Delay in Children: Case Report of Two Different Patients
Succinic semialdehyde dehydrogenase (SSADH) deficiency or 4-Hydroxybutyric Aciduria is an autosomal recessive inherited disorder of amma-aminobutyric acid (GABA) degradation. It is characterized by developmental delay, infantile-onset hypotonia, cognitive impairment language deficit, and ataxia. Epilepsy, aggression, Hyperkinetic behavior, hallucinations, and sleep disturbances have been descri...
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ژورنال
عنوان ژورنال: Paediatrics & Child Health
سال: 2018
ISSN: 1205-7088,1918-1485
DOI: 10.1093/pch/pxy033