Assessment of clinical profile, anemia and vitamin D status in children with Down syndrome.

There is paucity of information regarding anaemia and vitamin D status of children with Down syndrome in India. Maternal age is a known risk factor for Down syndrome. Studies show that there are modifiable risk factors associated with Down syndrome too, like exposure to tobacco and oral contraceptives. With this study we will study the modifiable risk factors in mothers of children with Down syndrome.Children between the age of 1 month and 18 years with cytologically confirmed Down syndrome will be included in the study after parental consent is obtained. The children will be included on their first visit to the hospital after the beginning of the study. The history of children with Down syndrome at diagnosis including antenatal history, anomaly scans, age of parents at conception, family history, triple marker screening during pregnancy and presenting complaints will be noted along with relevant past history and medical history. Anthropometric examination will be done with the help of electronic weighing scale, non stretchable measuring tape and height measuring scale to record the weight, height, and head circumference. The values will be assessed with respect to Down syndrome charts (Cronk chart). Detailed physical examination will be done and recorded in a preformed proforma. The results of investigations done for screening for anaemia and Vit D status as done according to standard practice guidelines will be recorded. History suggestive of atlantoaxial instability assessment and assessment for renal and cardiac screening, and thyroid screening will be noted.

Outcome : Maternal age, exposure to tobacco and contraception before conception, consanguinity, anomaly scan results, percentage of children with anemia, vitamin D deficiency and aetiology if identified for the same. Percentage of children with Down syndrome with atlantoaxial instability, cardiac anomalies, renal anomalies.