The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia

Overview

Journal J Autism Dev Disord

Publisher Springer

Date 2021 Jul 22

PMID 34292487

Citations 2

Authors

Emma K Baker

Sheena Arora

David J Amor

Perrin Date

Meagan Cross

James OBrien

Chloe Simons

Carolyn Rogers

Stephen Goodall

Jennie Slee

Chris Cahir

David E Godler

Affiliations

Soon will be listed here.

Abstract

The study characterised differences in costs associated with raising a child between four rare disorders and examined the associations between these costs with clinical severity. Caregivers of 108 individuals with Prader-Willi, Angelman (AS), Chromosome 15q Duplication and fragile X (FXS) syndromes completed a modified Client Services Receipt Inventory and participants completed intellectual/developmental functioning and autism assessments. AS incurred the highest yearly costs per individual ($AUD96,994), while FXS had the lowest costs ($AUD33,221). Intellectual functioning negatively predicted total costs, after controlling for diagnosis. The effect of intellectual functioning on total costs for those with AS was significantly different to the other syndromes. The study highlights the significant costs associated with these syndromes, particularly AS, linked with severity of intellectual functioning.

Citing Articles

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References

Aman M, Singh N, Stewart A, Field C . The aberrant behavior checklist: a behavior rating scale for the assessment of treatment effects. Am J Ment Defic. 1985; 89(5):485-91. View

Arora S, Goodall S, Viney R, Einfeld S . Societal cost of childhood intellectual disability in Australia. J Intellect Disabil Res. 2020; 64(7):524-537. DOI: 10.1111/jir.12732. View

Arpone M, Baker E, Bretherton L, Bui M, Li X, Whitaker S . Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X. Sci Rep. 2018; 8(1):3644. PMC: 5827525. DOI: 10.1038/s41598-018-21990-x. View

Baker E, Godler D, Bui M, Hickerton C, Rogers C, Field M . Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes. J Neurodev Disord. 2018; 10(1):24. PMC: 6091196. DOI: 10.1186/s11689-018-9242-0. View

Bindels-de Heus K, Mous S, Hooven-Radstaake M, van Iperen-Kolk B, Navis C, Rietman A . An overview of health issues and development in a large clinical cohort of children with Angelman syndrome. Am J Med Genet A. 2019; 182(1):53-63. PMC: 6916553. DOI: 10.1002/ajmg.a.61382. View

Butler M, Manzardo A, Heinemann J, Loker C, Loker J . Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey. Genet Med. 2016; 19(6):635-642. PMC: 5435554. DOI: 10.1038/gim.2016.178. View

Conant K, Finucane B, Cleary N, Martin A, Muss C, Delany M . A survey of seizures and current treatments in 15q duplication syndrome. Epilepsia. 2014; 55(3):396-402. DOI: 10.1111/epi.12530. View

Diene G, Mimoun E, Feigerlova E, Caula S, Molinas C, Grandjean H . Endocrine disorders in children with Prader-Willi syndrome--data from 142 children of the French database. Horm Res Paediatr. 2010; 74(2):121-8. DOI: 10.1159/000313377. View

DiStefano C, Wilson R, Hyde C, Cook E, Thibert R, Reiter L . Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials. Am J Med Genet A. 2019; 182(1):71-84. PMC: 7334030. DOI: 10.1002/ajmg.a.61385. View

10.

Doran C, Einfeld S, Madden R, Otim M, Horstead S, Ellis L . How much does intellectual disability really cost? First estimates for Australia. J Intellect Dev Disabil. 2012; 37(1):42-9. DOI: 10.3109/13668250.2011.648609. View

11.

Dykens E, Roof E, Hunt-Hawkins H . Cognitive and adaptive advantages of growth hormone treatment in children with Prader-Willi syndrome. J Child Psychol Psychiatry. 2016; 58(1):64-74. PMC: 5161611. DOI: 10.1111/jcpp.12601. View

12.

Grugni G, Crino A, Bosio L, Corrias A, Cuttini M, De Toni T . The Italian National Survey for Prader-Willi syndrome: an epidemiologic study. Am J Med Genet A. 2008; 146A(7):861-72. DOI: 10.1002/ajmg.a.32133. View

13.

Hessl D, Schweitzer J, Nguyen D, McLennan Y, Johnston C, Shickman R . Cognitive training for children and adolescents with fragile X syndrome: a randomized controlled trial of Cogmed. J Neurodev Disord. 2019; 11(1):4. PMC: 6463634. DOI: 10.1186/s11689-019-9264-2. View

14.

Inaba Y, Schwartz C, Bui Q, Li X, Skinner C, Field M . Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots. Clin Chem. 2014; 60(7):963-73. DOI: 10.1373/clinchem.2013.217331. View

15.

Kalsner L, Chamberlain S . Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes. Pediatr Clin North Am. 2015; 62(3):587-606. PMC: 4449422. DOI: 10.1016/j.pcl.2015.03.004. View

16.

Kerr C, Breheny K, Lloyd A, Brazier J, Bailey Jr D, Berry-Kravis E . Developing a utility index for the Aberrant Behavior Checklist (ABC-C) for fragile X syndrome. Qual Life Res. 2014; 24(2):305-14. PMC: 4317522. DOI: 10.1007/s11136-014-0759-8. View

17.

Kimonis V, Tamura R, Gold J, Patel N, Surampalli A, Manazir J . Early Diagnosis in Prader-Willi Syndrome Reduces Obesity and Associated Co-Morbidities. Genes (Basel). 2019; 10(11). PMC: 6896038. DOI: 10.3390/genes10110898. View

18.

Kraan C, Baker E, Arpone M, Bui M, Ling L, Gamage D . DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome. Int J Mol Sci. 2020; 21(20). PMC: 7589848. DOI: 10.3390/ijms21207735. View

19.

Larson A, Shinnick J, Shaaya E, Thiele E, Thibert R . Angelman syndrome in adulthood. Am J Med Genet A. 2014; 167A(2):331-44. PMC: 5534346. DOI: 10.1002/ajmg.a.36864. View

20.

Moreno-De-Luca D, Sanders S, Willsey A, Mulle J, Lowe J, Geschwind D . Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts. Mol Psychiatry. 2012; 18(10):1090-5. PMC: 3720840. DOI: 10.1038/mp.2012.138. View