1.
The prevalence and risk factors of the metabolic syndrome in inpatients with intellectual disability.
Room, B, Timmermans, O, Roodbol, P
Journal of intellectual disability research : JIDR. 2016;(6):594-605
Abstract
BACKGROUND The aim of this study is to explore the prevalence and influencing factors of metabolic syndrome (MetS) in people with intellectual disabilities (IDs) and behavioural problems in a Dutch special healthcare institution. METHODS This observational study was conducted from medical records of physical examinations, laboratory results, medication (history), ethnicity and length of stay, as well as from questionnaires about lifestyle and smoking habits. MetS was defined by using the criteria of the 2009 consensus guidelines. The questions in this study were about the prevalence of MetS over a 1-year period and exploration of the differences between the people with and without MetS to determine the factors associated with it. RESULTS The overall prevalence of MetS in the selected population of people with IDs and behavioural problems was 46%. The factors 'use of conventional antipsychotics', 'age', and a ' low nutrition score' increased the risk of developing MetS. Together, these variables determine 19% of the variance in the incidence of MetS. CONCLUSIONS The study indicates a firm prevalence of MetS in a vulnerable population, whereby a minority of contributing factors was determined. Professionals should be particularly alert during the provision of antipsychotics, diet and exercise habits to prevent MetS when treating people with IDs and behavioural problems, and further studies are needed to explore the factors that contribute to the nascence and prevalence of MetS.
2.
Creatine deficiency syndromes.
Schulze, A
Handbook of clinical neurology. 2013;:1837-43
Abstract
The lack of creatine in the central nervous system causes a severe but treatable neurological disease. Three inherited defects, AGAT, GAMT, and CrT deficiency, compromising synthesis and transport of creatine have been discovered recently. Together these so-called creatine deficiency syndromes (CDS) might represent the most frequent metabolic disorders with a primarily neurological phenotype. Patients with CDS present with global developmental delays, mental retardation, speech impairment especially affecting active language, seizures, extrapyramidal movement disorder, and autism spectrum disorder. The two defects in the creatine synthesis, AGAT and GAMT, are autosomal recessive disorders. They can be diagnosed by analysis of the creatine, guanidinoacetate, and creatinine in body fluids. Treatment is available and, especially when introduced in infancy, has a good outcome. The defect of creatine transport, CrT, is an X-linked condition and perhaps the most frequent reasons for X-linked mental retardation. Diagnosis is made by an increased ratio of creatine to creatinine in urine, but successful treatment still needs to be explored. CDS are under-diagnosed because easy to miss in standard diagnostic workup. Because CDS represent a frequent cause of cognitive and neurological impairment that is treatable they warrant consideration in the workup for genetic mental retardation syndromes, for intractable seizure disorders, and for neurological diseases with a predominant lack of active speech.