Sindrom Down (SD) adalah kelainan genetik yang paling sering ditemukan dan berhubungan dengan retardasi mental. Kelainan yang terjadi disebabkan oleh adanya kelebihan materi genetik kromosom 21. Karakteristik fisis anak dengan SD cukup jelas sehingga para tenaga kesehatan yang mengadakan kontak awal dengan neonatus, termasuk dokter ahli kebidanan dan kandungan, perawat kamar bersalin, dan dokter umum, dapat mengenali kelainan ini dengan relatif mudah. Anak dengan SD memiliki berbagai masalah kesehatan dan tumbuh kembang yang tak jarang cukup kompleks, maka skrining pra dan pasca natal, intervensi dini, dan pemantauan tumbuh kembang yang terus-menerus perlu dilakukan agar anak dengan SD dapat memiliki kualitas hidup yang lebih baik. Tata laksana medis, dukungan keluarga, pendidikan, dan pelatihan khusus dapat meningkatkan kemampuan anak dengan SD secara bermakna dan menjembatani transisi menuju kedewasaan. (Sari Pediatri 2007; 9(3):185-190).
Introduction Despite the considerable number of children withDo\Vll syndrome in Indonesia, there is little data available on thesuccess of intervention programs. This study was performed todefine factors affecting the intelligence of young children withDo\Vll syndrome.Objective To determine factors associated Mth lower intelligencein children with Down syndrome, including growth parametersand participation in intervention programs.Methods This crosssectional study was undertaken fromDecember 2010 to March 2011. Subjects were 60 childrenwith Down syndrome aged 26 years who were enrolled inan intervention program at both the Medical RehabilitationDepartment, Cipto Mangunkusumo Hospital, and the Growthand Development Clinic, Harapan Kita Women's and Children'sHospital. Parents' data was obtained through self historytakingand perusal of medical records. Subjects' anthropometricdata (body weight, body height, and head circumference) wasobtained through measurements using calibrated instruments.A psychologist administered IQ tests on the subjects. Results ofthe anthropometric and IQ tests were given to parents one weekfollowing the examinations.Results From the 111 children with Down syndromeregistered in the intervention programs, 60 children (36boys and 24 girls) met the inclusion criteria. The mean ageof subjects was 4 years 6 months. Most subjects were wellnourished. Fiftyfive subjects had microcephaly. Eightytwopercent of subjects participated in the program regularly and70% of subjects had started in the program at less than 1 yearof age. Subjects' mean IQ was 52.8. Analysis showed thatgirls, subjects who were overweight and obese, subjects withmicrocephaly, those with irregular attendance in the program,and those living under the poverty line were at highest riskfor severe mental retardation.Conclusion Factors associated v.ith the intelligence in childrenwith Down syndrome were female gender, overweight/obesity, severe microcephaly, belowpoverty line economic status, andirregular participation in the program. [Paediatr Indones.2012;52:194-9].
Gangliosides are major components in the human brain. The incorporation of gangliosides into the developing human brain is rapid, increasing from the third trimester through to the first 4-5 years of life, coinciding with the neuronal and glial differentiation and maturation process. It is generally accepted that breast-fed infants consume higher levels of gangliosides than formula-fed infants. However, the dietary ganglioside intake status at the toddler age period is unclear, given that toddlers are still going through a rapid growth and learning phase. The aim of this study was to provide an understanding of the dietary ganglioside sources and intakes for a cross-section of Indonesian toddlers and to determine any correlation with their serum ganglioside concentrations. Toddlers (150) were recruited from the Pejaten, South Jakarta, region. The dietary ganglioside intake was determined from food intake data collected over 2 days using a food frequency questionnaire. The ganglioside levels in the food and the blood were determined using a high performance liquid chromatography-mass spectrometry method. The average dietary ganglioside intake and the serum ganglioside content of Indonesian toddlers were 6.13 ± 0.56 mg/day and 13.2 ± 3.3 mg/L respectively. Growing-up milk powders contributed 71.8% of the daily total ganglioside intake, and major dietary ganglioside contributor. [1] No positive correlation was observed between the dietary ganglioside intake and the serum ganglioside concentration over the 2-day study period. Long term dietary and intervention studies are required to provide a clearer picture of the impact of dietary gangliosides on serum ganglioside levels.
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