Australian Study Examines High Cost of Angelman

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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High Cost of Angelman

The total cost of raising a child with Angelman syndrome (AS) is almost $100,000 AUD — more than $70,000 USD — per year, according to an Australian study.

The data suggest that, in Angelman and other conditions that cause intellectual abnormalities, less-severe cognitive impairment is associated with less costs. This suggests that early diagnosis (and, consequently, early interventions to improve cognition) may be cost-saving, according to researchers.

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

Raising a child is expensive at the best of times, and having a child with a rare disease can mean having to pay for extra medical costs in addition to non-medical costs. Understanding these costs at the societal level can help to identify areas of unmet need, and suggest strategies for lowering the burden caused by rare diseases.

A team of researchers in Australia surveyed caregivers of 108 individuals (ages 8 months to 45 years) affected by a rare disease that causes cognitive impairment. Specifically, there were 27 individuals with Angelman syndrome, 35 with fragile X syndrome (FXS), 32 with Prader-Willi syndrome (PWS), and 14 with chromosome 15q duplication (Dup15q).

Using the collected data, the researchers estimated the average yearly societal cost of each condition — that is, the cost incurred to all parts of society, including the affected families and the healthcare system.

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Results showed that the cost of Angelman was $96,994 AUD ($70,897 USD) per year. This was notably higher than the average yearly cost for the other diseases: $57,576 AUD ($42,102 USD) for PWS; $52,130 AUD ($38,120) for Dup15q; and $33,219 AUD ($24,291 USD) for FXS.

The researchers noted that, from a purely economic perspective, these values “are likely underestimated,” since these conditions may limit productivity (e.g., having to take time off of work) in ways that aren’t directly reflected in increased costs.

Statistical analyses showed that, after controlling for the child’s age and other variables, the cost for Angelman was significantly higher than for fragile X.

Other analyses indicated that the largest incurred for these diseases would likely be paid by the government, under the Australian healthcare system.

Collectively, the data show “the considerable economic impact of FXS, PWS, AS and Dup15q syndrome, with the majority of costs incurred by the Australian government (benefits paid to families, unemployment, out-of-home care),” the researchers wrote.

The team then conducted analyses to see whether costs changed based on intellectual impairment, as assessed with a modified version of intelligence quotient (IQ). Results showed that, among children with Angelman, every one point increase in modified IQ was associated with $5,102 AUD ($3,730 USD) per year lower costs.

Higher IQs also were associated with lower costs for the other three conditions, though the amount was lower. When all four conditions were analyzed collectively, each point increase in modified IQ was associated with $734 AUD ($537 USD) per-year lower costs. Additional statistical analyses indicated that the effect of intellectual impairment on costs was stronger in Angelman than in the other conditions.

“This suggests that the severe ID [intellectual disability] associated with AS (usually more severe than the other three syndromes) is a significant contributor to the financial burden of AS,” the researchers wrote.

“The findings provide support for interventions that target intellectual/cognitive functioning in these disorders, particularly [Angelman syndrome]. Even small improvements in intellectual functioning may result in significant cost reductions,” they added, though they noted that more research is needed to better understand these associations.

The team also said the findings have implications for diagnosis and management, especially as new therapies are developed to treat these conditions. Since early treatment usually is associated with better outcomes, an earlier diagnosis could allow for lower costs in the long term. This supports the use of newborn screening for these conditions, the researchers said.

“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 co-author of the study, said in a press release.

According to Anu Madan, whose 2-year-old daughter Arika was diagnosed with Angelman syndrome at the age of 8 months, an earlier diagnosis would have been welcomed.

“If we had been better prepared and known what to expect, things would be different … If this disorder had been diagnosed at birth she [Arika] would have received support so much sooner and her motor and cognitive skills wouldn’t be as poor,” Madan said.