Prenatal diagnosis of phenylketonuria.

We report prenatal diagnosis of phenylketonuria by linkage analysis of the markers linked to the phenylalanine hydroxylase (PAH) gene. Three markers comprising STR (TCTAT)n in intron 3, VNTR (30bp long cassette) in the 3' UTR and Xmn1 RFLP were ascertained in the affected child, the parents and the chorionic villi sample. The foetus was confirmed to be heterozygous for the mutant allele. The diagnosis that the foetus was unaffected was confirmed by biochemical tests in the newborn.

Psychopathology and coping in parents of chronically ill children.

OBJECTIVE: To evaluate psychopathology and coping mechanisms in parents of children with a chronic illness. METHODS: 30 parents whose children had Thalassaemia were randomly selected from the Thalassaemia Day Care Centre of a teaching general hospital. The parents were interviewed on a semi structured proforma and also rated on SCL-90-R and Mechanisms of Coping scales. The data was analyzed using Pearson's correlation coefficient. RESULTS: The parents were seen to have high psychopathology on SCL-90-R. Depression was the subscale with the maximum elevation. Somatisation was also significantly elevated The GSI (General Symptomatic Index), a measure of general distress was extremely high in about 86.66% of the parents. Most parents were fatalistic in their approach towards the illness. Fatalism positively correlated with somatisation and depression. Avoidant coping strategies were associated with higher scores on various dimensions of the SCL-90-R. CONCLUSION: Chronic illness in children affects the psychological health of the parents. Active coping strategies are associated with fewer distress indices and thus if inculcated may improve the ability to bear the burden of the illness without becoming themselves affected by psychiatric illnesses.

Psychopathology and self-esteem in chronic illness.

OBJECTIVE: To evaluate psychopathology and self-esteem in chronic illness. METHODS: 60 children and their parents were selected to participate in an open study. 30 children had epilepsy and the other 30 had thalassemia. Both the groups consisted of children randomly selected from the Epilepsy Clinic and Thalassemia Centre respectively, of a teaching general hospital. The children and their parents were interviewed and also rated on Childhood Psychopathology Measurement Schedule (CPMS) and Rosenberg's self esteem scale. The data was analysed using Pearson's chi square test and Pearson's correlation coefficient. RESULTS: The children were seen to have high psychopathology on CPMS (average score: thalassemia group = 28.56, epilepsy group = 26.06). Depression was the subscale with the maximum elevation in both groups. Behavior problems were high in epilepsy. In addition, sadness and disinterest in life were common symptoms in thalassemia while irritability and panic were high in epilepsy. Children with epilepsy perceived a change in lifestyle after diagnosis. Self-esteem was moderately affected in both groups and this affected compliance with treatment in thalassemia. CONCLUSION: Chronic illness affects psychological health and self esteem in children. Hence, in addition to the physical aspects it is necessary also, to focus on the psychological health of the child in order to ensure compliance and thus treat the child comprehensively.