Search

To analyze factors influencing development of Down syndrome children in the first three years of life.A cross-sectional study was conducted in 100 Down syndrome (DS) children attending at the Genetics clinic, Department of Pediatrics, Siriraj Hospital between January 2002 and December 2005. All individuals were three to six years of age. The data was collected from January to December 2006, including general information and factors on the child and their families. The child developmental quotient (DQ) was evaluated by Capute Scales Cognitive Adaptive Test/Clinical LinguisticAuditory Milestones Scale (CAT/CLAMS) at three years of age. Data were analyzed by descriptive statistic and multiple linear regression with the significant level at p-value0. 05.The mean development quotient (DQ) was 63.78 +/- 11.25 (range 32-91) with the majority being mild developmental delay. The child and family factors contributing to developmental quotient (DQ) outcome were birthplace, congenital heart disease, age at the first genetic counseling, regular follow-up in the Genetics clinic, age at the first early stimulation program/speech training program, parental education/occupation, and family income. Only family income and age at the first speech-training program were found to be independently associated with developmental quotient (DQ) at the age of three years (p-value0.05).Down syndrome is the most common genetic cause of mental retardation. Various factors contribute to developmental quotient (DQ) outcome but the most important factors are family income and age at the first speech-training program. Therefore, Down syndrome children with the above factors should be followed-up and monitored closely for the optimal long-term outcome.

Background Disorders of organic acid (OA) metabolism are generally detected by qualitative analysis of urine organic acids by gas chromatography/mass spectrometry (GC/MS) which was well established in developed countries since 1980s. Confirmation of the diagnosis of organic acid disorders by OA analysis, enzyme analysis and molecular study is a difficult task in developing countries. Methods During 2001–2004, we had analysed 442 urine samples in 365 patients and identified 12 cases of organic acid disorders. Results We identified the following disorders: alkaptonuria (ALK) = 1, isovaleric acidemia (IVA) = 3, propionic acidemia (PA) = 2, methylmalonic acidemia (MMA) = 3, glutaric aciduria, type I (GA-I) = 1, multiple carboxylase deficiency (MCD) = 1, and glutaric acidemia, type II (GA-II) = 1. Conclusions OA disorders had never been diagnosed in Thailand before, until GC/MS technology was introduced to Thailand in 2001. Urine OA analysis also provided a diagnostic clue to other inborn errors of metabolism including amino acid disorders, urea cycle disorders, disorders of carbohydrate metabolism, and mitochondrial fatty acid oxidation disorders. Since then, we were able to diagnose numerous disorders, which led to prompt treatment and better outcome in our patients.