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Sialuria is a rare inborn error of metabolism caused by excessive synthesis of sialic acid due to the mutation in the binding site of the cytidine monophosphate-sialic acid of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE/MNK). This is the first study investigating the molecular basis of neuronal disorders exhibiting sialuria in Pakistani children/ adolescents. Current study genotyped GNE SNPs rs121908621, rs121908622 and rs121908623 by using PCR, RFLP, and DNA sequencing methods. Socioeconomic and clinical histories were also recorded. Our data suggest that clinical symptoms and financial status play a significant role in conferring sialuria related Intellectual Disability (ID).
rs121908623 showed G/A substitution (R263Q) in the GNE gene. We have identified one case study in Pakistan so this makes our research a leap forward towards the identification of the 10th case study worldwide.
This article was published in the following journal.
Name: CNS & neurological disorders drug targets
Historically, students with intellectual disability were not expected to learn to read, and thus were excluded from reading instruction. Over the past decades, societal expectations for this group of ...
The behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to sy...
People with intellectual disability (ID) experience higher mortality than the general population. This study examines factors contributing to deaths in people with intellectual disability.
Although empowerment is an important factor in the adaptation of parents of children with intellectual and developmental disabilities, our understanding of empowerment in fathers or how it relates to ...
Research on follow-up outcomes of systemic interventions for family members with an intellectual disability is scarce. In this study, short-term and long-term follow-up outcomes of multisystemic thera...
This study aims to evaluate an intervention using the Toolkit "Children - what does it involve?" and the "Real-Care-Baby" (RCB) simulator among students with intellectual disability (ID), ...
Objective quantitative primary endpoints are lacking in Clinical trials in intellectual disability. We propose to develop quantitative interactive attention evaluation criteria in patients...
Needle procedures are the most common and important source of pain and distress in children in the health care setting. Children with intellectual disability from any cause experience pain...
The proposed study is a pre-post intervention study to investigate the acceptability and feasibility of a mindfulness based program for people with intellectual disabilities and their care...
Context People with intellectual disability (PWIDs), nearly 1,300,000 adults and children in France, develop as many cancers as persons in the general population. However, their tumors are...
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
A child or adolescent who, when compared to others of the same age or experience, exhibits capability of high performance in intellectual, creative, or artistic areas, possesses an unusual capacity for leadership or excels in specific academic fields. (From PL 100-297, Sec. 4103, Definitions)
Any observable response or action of an adolescent.
Tests designed to measure intellectual functioning in children and adults.
A live attenuated virus vaccine of duck embryo or human diploid cell tissue culture origin, used for routine immunization of children and for immunization of nonpregnant adolescent and adult females of childbearing age who are unimmunized and do not have serum antibodies to rubella. Children are usually immunized with measles-mumps-rubella combination vaccine. (Dorland, 28th ed)
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...