ISLAMABAD: The number of children suffering from intellectual disabilities in Pakistan is increasing due to cousin marriages.

A study conducted by the Shaheed Zulfiqar Ali Bhutto Medical University, the University of Maryland School of Medicine in the United States and Radbound University in the Netherlands has found that 30 new genes have developed which are causing these disabilities.

In light of the study, recommendations will be sent to the government within a week for legislation that requires cousins to be screened before marriage.

The recommendations also include a proposal to ensure neonatal screening, which is already practiced in Europe and the US.

Neonatal screenings can identify conditions that could affect a foetus’ long term health or survival.

Early detection, diagnosis and intervention can prevent death or disability, and allow children to reach their full potential.


‘Risk that genes could become active in child 8 to 10 times higher in first cousin marriages’


The vice chancellor of the Pakistan Institute of Medical Sciences (Pims), during a press conference on the report, said that 5 million people in Pakistan suffer from intellectual disabilities, a much higher ratio than in developed countries.

“As many as 480 families from across the country were screened during the study to discover new genes that have become the reason for intellectual disabilities.

“We have come to know that genes have been changing in some families. Although these genes can become active in any child, the risk is eight to 10 times higher in the case of marriages between first cousins,” he said.

“DNA sequencing was also done during the study, and the samples were reviewed in other universities.”

Pims microbiologist Dr Riazuddin said one to 3pc of the population is affected by intellectual disabilities worldwide. In Pakistan, the rate is much higher.

He said there are around 800 genes known to be able to cause intellectual disabilities, if mutated.

The Federal Secretary for Science and Technology, Fazal Abbas Mekan, said the study is an indication that Pakistani universities are capable of conducting research.

“We have to encourage research culture to ensure the country’s development,” he said.

Dr Riazuddin told Dawn the study began by taking DNA samples from blood samples collected from consenting families in Pakistan.

“As three universities were involved in the study, the university’s abilities increased and it became possible to do all sorts of experiments,” he said.

“Because of the study, 30 new genes were discovered. Now that we have a scientific study, we will suggest that the government makes legislation that couples should be screened to prevent diseases affecting their children.”

“After marriage, couples should consult doctors before planning to have children. The Sindh assembly passed that sort of law last year, but there is need for legislation at the centre because that is the only way the law will be implemented,” he added.

In response to a question, Dr Riazuddin said it was not accurate to say people were not aware or that they connect everything to religion.

“I have enrolled as many as 6,000 families which have had difficulties with the births of deaf and blind children. Some of the families are in interior Sindh but they have contacted us before marriage to find out if the couples’ children will be deaf or blind,” he said.

“The seek advice because they are aware. If we make people aware that it is in their benefit to get themselves and their children screened, they will start screening their children.”

Published in Dawn September 7th, 2016

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