Indian Pediatrics 2007;44:131-133
Issues in Counselling for Down Syndrome
K.M. Girisha, Sheetal V. Sharda and Shubha R. Phadke
From the Department of Medical Genetics, Sanjay Gandhi
Postgraduate Institute of Medical Sciences,
Correspondence to: Dr. Shubha R. Phadke, Additional
Professor, Department of Medical Genetics,
Manuscript received: January 9, 2006; Initial review
completed: May 1, 2006;
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).
TABLE I Influence of Age at Presentation and Educational Status of Parents on Background Information
Some notable queries those arose during the counseling and the beliefs the parents had are: will others recognize him as mentally retarded child by his look?; whose defect is it (fatherís/motherís)?; will he earn his livelihood?; how to kill this child (as it is worthless for him to live)?; were told that he will be able to study in Hindi medium; We are told that he/she will not survive beyond 17-18 years; Down syndrome occurs due to improper antenatal care; he will be mad; is it a lethal condition?; heart defect need not be operated in children with Down syndrome; do they have reduced life expectancy?; will his/her children also have Down syndrome?; screening is done only after the first child with Down syndrome; happy to note that the child will not have major physical problems.
The findings of our study show that many parents are not well informed about the condition including that their child has Down syndrome. This could be due to several reasons. Difficulties in diagnosis of a neonate with Down syndrome or unwillingness on the part of the pediatricians to break the bad news are possible explanations. It is also obvious from the study that the families are rarely informed about the antenatal screening and testing options, at least for the subsequent pregnancies. This finding demands a serious consideration in educating the people about preventive strategies including routine use of triple test.
Several unique concerns/views were expressed by few families. It is an integral part of the care of these children to understand how the family feels and reacts to the facial appearance. Few families were worried about being pointed out in the society whereas one family felt their son looks handsome! Some of them verbalized specifically about common aspects like education, job and longevity. In an Indian set up, several families affected with incurable conditions also raise issue of marriage and reproductive ability. The counselor should be cautious and at the same time be truthful while approaching these kind of issues. The counselor needs to find out the perceptions of the family about the condition and burning issues after the diagnosis like course, outcome, treatment options, cause, blame etc. These deserve special emphasis for a given family while giving them realistic picture of the future.
Contributions: SRP: Concept, design, critical revision of the draft; GKM: Collection, analysis of data, drafting of the manuscript; SVS: Analysis of data
Competing interests: None stated.