Early Screening, Diagnosis May Reduce High Annual Disease Costs in PWS

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by Patricia Inacio PhD |

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The mean total annual costs of raising a child with Prader-Willi Syndrome (PWS) — an estimate that takes into account services use, impact on parental income, and care arrangements — is more than AU$57,500 (about $42,500) per child, according to an Australian study of four rare disorders that cause cognitive impairment.

According to the researchers, the findings indicate that better intellectual functioning is associated with lesser costs, with each higher point on IQ tests generally tied to more than AU$700 (more than $500) in care cost savings. Further savings were linked to early interventions that improved the behavior and physical abilities of children with these four rare diseases.

The results of this study support early screening and diagnosis for PWS, and prompt, individualized therapies as a cost-saving strategy, the researchers said.

“Significant reductions in total yearly costs were related to intellectual functioning … suggesting that the economic burden across these syndromes can be reduced by earlier diagnosis and targeted interventions,” the investigators wrote.

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Titled “The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia,” the study was published in the Journal of Autism and Developmental Disorders.

Early diagnoses of many rare diseases, including PWS, have become possible through advances in newborn screenings. Policymakers in Australia are weighing the risks and benefits of making such testing available throughout the country for certain rare diseases.

To learn more, a team of researchers now analyzed the costs associated with raising a child diagnosed with one of four rare diseases: PWS, Angelman syndromefragile X syndrome, and chromosome 15q Duplication (Dupl15q).

All of these conditions lead to intellectual disability and are associated with behavior problems. In Australia, around 135 children are born with one of these disorders each year.

Generally, therapies are known to be more effective if the diagnosis is made earlier. For example, an early diagnosis of PWS allows for timely hormone treatments that can improve patients’ quality of life, as well as better outcomes from other types of therapy.

However, “many infants with these syndromes are not diagnosed within the first year of life,” Emma Baker, PhD, a researcher at Murdoch Children’s Research Institute and the study’s first author, said in a press release.

“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 behavioural therapies are reliant on early diagnosis,” Baker said.

Understanding the costs involved in managing these disorders can help decide on the best screening strategies.

Newborn screenings — genetic tests in babies, usually given immediately after birth — can identify rare genetic, hormone-related, and metabolic conditions. A recently developed one-step test — called Methylation Specific Quantitative Melt Analysis — quantifies DNA marks known as methylation, which regulate gene activity. The method can be used to diagnose PWS and the other three conditions assessed in this study simultaneously. But to be included in newborn screening panels, disorders must meet criteria that include benefits to the infants and to society outweighing the risks and burdens of screening and therapy.

In total, the study included 108 patients, ages 8 months to 45 years, affected by one of the four disorders. Among the 32 participants with PWS, 81.1% were younger than 18 and 53.1% were females.

The researchers collected data on services use, household composition, parent/family income, and care arrangements using a modified version of the Client Service Receipt Inventory, answered by parents/caregivers. The team also gathered information on medical history, behavioral problems, and intellectual functioning.

According to the analysis, among the four disorders, a PWS diagnosis was linked with the second-highest yearly costs per person, at AU$57,576 ($42,655). The highest costs were associated with Angelman syndrome, with an annual mean of AU$96,988 ($71,839). Dupl15q had a mean annual cost of AU$52,130 ($38,608), while fragile X was somewhat lower at AU$33,219 ($24,597).

The investigators said that this economic burden is “likely underestimated,” as these conditions may limit parent/caregiver productivity — for example, with lost work time due to time spent caring — in ways not directly reflected in increased costs.

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The highest costs were incurred by the government, including benefits to patients and their families, as well as costs related to unemployment, home/residential care living, and informal care.

Among the PWS group, the government’s mean total cost was AU$42,481 ($31,455). The total cost to patients and/or their families was AU$15,095 ($11,177).

Part of the burden to families is the potential loss of employment among caregivers. A previous Italian study reported that 62% of family caregivers changed their jobs after their child with PWS was born. More than one-third reported having left a job, and 8% each said they had changed their employment to assist their child or had to work part-time. Also of note, 3% reported that they no longer had the perspective of a career following their child’s PWS diagnosis.

As for medications, PWS led to higher costs than the other conditions — at a mean of AU$7,714 per year ($5,711).

The scientists also found that the annual costs of caring for a child with one of these disorders were reduced if the child achieved better intellectual functioning. Specifically, for every point increase in the child’s corrected full-scale intelligence quotient scores, the annual costs were reduced by a mean of AU$734 ($543).

Across the four disorders, “significant reductions in total yearly costs” were found to be related to intellectual functioning, the researchers said. The team said that the economic burden of each disorder could be reduced with earlier diagnoses and better interventions.

These findings show that diagnosing children in their first year of life can lead to significant savings, supporting the addition of the one-step methylation test to the current newborn screening program in the country, according to David Godler, PhD, the study’s senior author.

According to the team, the study’s limitations included its wide age ranges, which led to lower costs than expected related to special education and group home/residential care living costs in the PWS group.