Earlier Diagnosis Might Treat Rare Genetic Disorders Significantly In Children

According to the new study, researchers had found that earlier diagnoses and various treatments are targeted which significantly reduce the economic burden and costs who are suffering from rare genetic disorders.

Researchers say that we support chromosome 15 and Fragile X syndrome disorders which are included with Prader-Willi, Angelman, and chromosome 15q duplicated syndromes among the newborn children by performing the bloodspot screening test.

Earlier Diagnosis Might Treat Rare Genetic Disorders Significantly In Children

Among the listed four rare disorders, this study had characterized them by varying the degrees with intellectual disabilities, behavioral problems, and autism.

Earlier Diagnosis Might Treat Rare Genetic Disorders Significantly In Children

Though this is not the only finding as early detection of any type of cancer can help to have better treatment, this is different as autism in young kids can be easily detected before they have to face the health issue.

This can help the parents prepare for their future health condition and avoid factors that can instigate the autism symptoms with the help of the proper line of treatment offered by experts.

Based on the survey, 135 people are reported who are born with listed syndromes across the world and mainly in the United States.

Dr. Emma Baker is the lead researcher and author of this study. She says that “financial burdens are increased with intense care for a child by finding the rare conditions which are substantial for disbursed costs” 

These conditions are spread across special education, home care, medications, equipment support, and regular visits to the hospitals and health professionals among people.

But on this note, Dr. Baker stated that “intellectual functioning is at higher levels and associated with lower costs”. This theory suggests the economic impact to reduce the targeted interventions and earlier diagnosis treatments. 

This study was found with the involvement of 108 families who are recruited related to the disorders which are very specific for supporting the organizations and groups. 

According to the study leads, the higher costs per person are included such as $96,944 for Angelman Syndrome, $57,576 for Prader-Willi Syndrome, $33,221 for Fragile X syndrome, and $52,130 for Chromosome 15q duplication syndrome.

Earlier research had found that every aspect will increase the intellectual functioning in children which was gradually reduced up to $734 where many of the syndromes are 30 points lower compared to the IQ level developing within the children.

Dr. Baker stated that “most of the infants are having syndromes which are still undiagnosed on their first year of life”. But for the Prader-Willi syndrome, the diagnosis in the infants is followed by the earlier initiations for the hormonal growth treatments.

On this note, this study shows the improvements in the intellectual functioning among the children for the first 12 months. Baker stated that “longer-term treatments can put the pressure on health sectors”.

Researchers say that severe seizures had occurred among 80 percent of the people who are having Chromosome 15q duplication syndrome and Angelman syndrome. For this, they need an ongoing treatment and monitoring system throughout their life.

Adults and children with 40 percent are overweight and suffering from obesity, where 98 percent of them are having increased risks on their chronic conditions if they are not avoided.

MCRI (Murdoch Children’s Research Institute) researchers found a screening method that is specialized under the possible conditions of early diagnosis treatment, that method is named “Methylation Specific-Quantitative Melt Analysis”.

By following this method, chemical modifications named methylation are added for the affected genes as they are not present in children with lower-level disorders. 

Researchers conclude that “medical equipment and facilitation must be cheap to meet all the needs by placing the second-hand equipment from the market” where further research is required for more efficient treatments.

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