Abstract:

We studied the background information, concerns and specific queries of thirty-four families of children with Down syndrome. Majority of the parents were aware that their child has Down syndrome and has or will have mental retardation. However, most of the families were ignorant about the lack of curative treatment, chromosomal nature of the disorder and prenatal screening and testing options.

Key words: Counselling, Down syndrome

With an incidence of 1:700 to 1:1000, Down syndrome is the most common cause of referral for genetic counseling(1-3). As there is no curative therapy, genetic counseling has a central role to play in the management. Counseling for Down syndrome is complex and each case is challenging for even an experienced counselor. A good counselor has to be alert to the background awareness of parents and caretakers as well as be prepared for their queries, some of which erupt spontaneously during the process of counseling. The present study was planned to analyze the background information the parents have and document the issues that arise during counseling.

Parents of children with Down syndrome attending medical genetics outpatient department of a tertiary referral centre over a period of one year were enrolled for the study and counseled in accordance with the guiding principles(4). The counselor documented the background information that the consultands had about Down syndrome with the aid of a predetermined protocol. The proforma included information regarding awareness of: Down syndrome in their child, presence of mental retardation, incurability of the condition, inability to formal schooling, different look from other children, chromosomal etiology of the condition, trisomy 21, relation to maternal age, feasibility of prenatal screening and diagnosis and other relevant information. The major concerns of the parents and questions arising during the course of interview and counseling as perceived by the investigator were also recorded.

Thirty-four patients (2 neonates, 19 infants and 13 older children) and their families were studied. Of these, nine were diagnosed to have Down syndrome in the neonatal period, 19 during 1-12 months of age and 6 at a later age. Twenty-five children were referred by the pediatricians. The influences of age at the time of presentation and educational status of parents on background information are shown in Table I. The higher of the qualification of the parents was considered for interpretation of the results. Major concerns noted by the parents were mental retardation(21), schooling(12), cardiac problems(6), recurrence of the condition(6), communication(5), intercurrent problems(5), treatment(3) and reproductive ability(3).