High prevalence of self‐reported autism spectrum disorder in the Propionic Acidemia Registry
نویسندگان
چکیده
منابع مشابه
Propionic acidemia in the newborn.
Propionic acidemia is a rare, autosomal, recessively inherited inborn error of propionate metabolism. It presents most often as a neonatal life threatening emergency with metabolic acidosis, hyperammonemia, hyperglycinemia and hyper gylcinuria. Since its first description in a male infant with episodic metabolic acidosis and hyperglycinemia(l), more than 100 cases have been reported. The presen...
متن کاملEffects of Autism Spectrum Disorder Insurance Mandates on the Treated Prevalence of Autism Spectrum Disorder.
IMPORTANCE Most states have passed insurance mandates requiring commercial health plans to cover services for children with autism spectrum disorder (ASD). Insurers have expressed concerns that these mandates will increase the number of children diagnosed with ASD (treated prevalence) and therefore increase costs associated with their care. To our knowledge, no published studies have addressed ...
متن کاملPropionic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder
OBJECTIVE Propionic acidemia is one of the rare congenital neurometabolic disorders with autosomal recessive inheritance. This disorder is caused by a defect in the propionyl-CoA carboxylase enzyme and can be presented with life-threatening ketoacidosis, lethargy, failure to thrive, and developmental delay. MATERIALS & METHODS The patients diagnosed as having propionic acidemia in Neurology D...
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Background: Autism Spectrum Disorder (ASD) is a complex developmental disorder characterized by repetitive and stereotypical patterns, and difficulties with social communication and interaction in early childhood. Motor development and dysfunction in children with ASD has been the subject of study in recent years and has attracted much of the attention of researchers. As motor dysfunctions can ...
متن کاملSecondary Hemophagocytosis in Propionic Acidemia
1Department of Pediatric Metabolism and Nutrition, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 2Pediatric Intensive Care Unit, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 3Department of Pediatric Hematology and Oncology, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 4Department of Pediatric Endocrinology, Diyarbakır Children’s Hospital, Diyarbakir, Turkey 5Department of Pedia...
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ژورنال
عنوان ژورنال: JIMD Reports
سال: 2019
ISSN: 2192-8312,2192-8312
DOI: 10.1002/jmd2.12083