الفهرس 
IntroductionOnly 14 pages are availabe for public view
 |  | from | 150 |  |  |
| | | from | 150 | | |
Abstract
Mental retardation refers to significantly subaverage general intellectual functioning existing concurrently with deficits in adaptive behavior and manifested during the developmental period. Inborn errors of metabolism (IEMs) are a set of relatively uncommon complicated medical conditions involving abnormalities in the complex biochemical and metabolic pathways of the human body system. IEMs remain responsible for 1–5% of unspecific MR. Most of the IEM are single gene defects, inherited in an autosomal recessive manner, with a 25% recurrence risk. Fortunately, treatment is possible for many IEM. Emergency treatment of metabolic disorders consists of symptomatic treatment, which is applied regardless of the underlying disorder, and specific treatment is possible by our understanding of the biochemical bases of the underlying disorder. The long-term outcome is inversely related to the time between the onset of symptoms and the start of specific emergency treatment. This often requires the initiation of therapy before the exact diagnosis is known and rapid initiation of specific investigations. This study included a study group which consisted of 154 cases of unexplained mentally retarded children and a control group which consisted of 35 children of matched age, sex and socio-economic status. All were selected from Minoufiya University Hospitals All cases were subjected to the following: detailed history taking, family pedigree, thorough clinical examination, anthropometric measurements, routine investigations, urine metabolic screening tests (ferric chloride test and 93 toluidine blue spot test) and urinary paper chromatography. Analysis of demographic data of patients and controls indicate the following: Concerning to the age, its range was between (5 -17) years with mean ±SD were 10.33±2.93 and there are 35 control cases, their ages ranged between (6 to 16) years with mean ±SD of 10.52±0.71. The features of the clinical profile of the patients showed male predominance in (69.5%), parental consanguinity in (27.8%) and positive family history of similar condition in (about 13.6%) Analysis of perinatal history of patients and controls indicate the following: As regard to incubator admission: in patients (about 17.5%) were admitted to incubator& in control cases (about 8.5 %) cases were admitted to incubator, test of significance found to be significance. Measurements of patients and controls indicate the following: There was significant difference between patients and control regarding their height, weight, BMI and head circumference. In this study regarding to BMI, there were (14.2%) severe underweight (<16 kg/m2); (19.4%) underweight (16 -18.5 kg/m2) and there were (10.3%) short stature cases (below 3rd percentile) among patients group . Developmental history of patients and controls indicate the following: As regard to developmental history: there were (90%) having delayed milestones and (89.6%) having speech disorders among patients group with significant difference between patients and control. While delayed teething and delayed sphincter control were not significant between both groups. I.Q and Degree of MR among the patients indicate the following: As regard IQ: Mean ± SD of patient was 56.2± 8.30.As regard degree of 94 mental.