Rare Daily Staff

The cost of raising a child with a rare genetic disorder is significant but the economic burden could be reduced by earlier diagnosis and targeted treatment, a new study finds.

The research, led by Australia’s Murdoch Children’s Research Institute, supports the addition of Fragile X syndrome and chromosome 15 imprinting disorders including Angelman, Prader-Willi and Chromosome 15q duplication syndromes to the newborn screening test in Australia.

The four rare disorders studied are characterized by varying degrees of intellectual disability, autism and behavioral problems. About 135 people are born with one of these syndromes each year in Australia.

MCRI researcher Emma Baker said the financial burden of caring for a child with one of these rare conditions was substantial with costs disbursed across out-of-home care, special education, equipment support, medications, and visits to health professionals and hospitals. She noted higher levels of intellectual functioning were associated with lower yearly costs, suggesting that the economic impact could be reduced by earlier diagnosis and targeted interventions.

The study, published in the Journal of Autism and Developmental Disorders, involved 108 Australian families recruited from disorder-specific support groups and organizations.

Angelman syndrome incurred the highest yearly costs per person at $70,796 (AUD $96,994), followed by Prader-Willi syndrome $42,002 (AUD $57,576), Chromosome 15q duplication syndrome $38,039 (AUD $52,130) and Fragile X syndrome $24,241 (AUD $33,221). The research found that for every point increase in child’s intellectual functioning the total yearly costs were reduced by $536 (AUD $734). Many with these syndromes lead to more than 30 points below the IQ of what is typically seen in developing children, according to the researchers.

“Many infants with these syndromes are not diagnosed within the first year of life,” Baker said. “For Prader-Willi syndrome, diagnosis in infancy allows for early initiation of growth hormone treatment, which has shown to improve intellectual functioning when started in the first 12 months of life, while early targeted interventions such as speech, physical, and behavioral therapies are reliant on early diagnosis.”

MCRI Associate Professor David Godler said early diagnoses for these syndromes was now possible using a specialized screening method called Methylation Specific-Quantitative Melt Analysis recently developed by MCRI researchers.

The one-step test can be used to screen for the four syndromes simultaneously by looking at the number of chemical modifications or marks called methylation added to affected genes, which are not present at such high or low levels in children without these disorders. 

He said given the high costs associated with these conditions and potential savings to governments and affected families if the diagnosis was made in the first year of life, the research findings support the test being considered for addition to the newborn bloodspot screening program.

X