Factors influencing development of Down syndrome children in the first three years of life: Siriraj experience.

OBJECTIVE: To analyze factors influencing development of Down syndrome children in the first three years of life. MATERIAL AND METHOD: 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 Linguistic & Auditory 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-value < 0. 05. RESULTS: 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-value < 0.05). CONCLUSION: 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.

Galactosemia in Thai patient at Phramongkutklao Hospital: a case report.

Galactosemia is a rare autosomal recessive disorder of galactose metabolism, which occurs as a consequence of a deficiency of one of these three enzymes: galactokinase, galactose-1-phosphate uridyltransferase, and uridine diphosphate galactose-4-epimerase, leading to elevated level of galactose and its metabolites in blood. The presented case was a 2-month-old, Thai female infant with persistent cholestatic jaundice, bilateral posterior subcapsular cataracts, and hepatomegaly. Laboratory investigations showed slightly elevated serum aminotransferase, and increased urinary excretion of galactose, galactitol and galactonate (by urine gas chromatography/mass spectrometry). These findings indicated an error in galactose metabolism. Soy-based formula was introduced to the patient. Clinical and laboratory results were improved after a few months of treatment. Genetic counseling was provided to the family for 25% of recurrence risk. Prenatal diagnosis is not established in Thailand.

Homocystinuria in Thai patient--Phramongkutklao Hospital experience.

Homocystinuria is a rare autosomal recessive disorder of amino acid metabolism. Classic (type I) homocystinuria is the most common type and occurs as a consequence of a deficiency of cystathionine-b-synthase, producing increased blood and urine homocysteine. The authors report a 15-year-old Thai male who presented with generalized tonic-clonic seizures from superior sagittal sinus thrombosis, bilateral downward subluxation of ocular lenses (ectopia lentis), Marfanoid habitus, osteoporosis, attention deficit and hyperactivity disorder. Urine metabolic screening was positive for cyanide nitroprusside test. Levels of plasma homocysteine and methionine were elevated. The clinical and laboratory findings in this case are consistent with the diagnosis of "type I" or "classical homocystinuria". The treatment was started with a low methionine diet, vitamin B6 or pyridoxine, folic acid, anticonvulsants, antithrombotic treatment and calcium supplementation. Genetic counseling was provided to the family with the recurrent risk of 25%. Definite diagnosis by enzyme assay or mutation analysis and also prenatal diagnosis are not established in Thailand.