Intellectual and Developmental Disabilities and Rare Diseases
Document Type
Contribution to Book
Publication Date
2023
Publisher
Springer
Source Publication
Intellectual Disabilities: Health and Social Care Across the Lifespan
Source ISSN
978-3-031-27495-4
Original Item ID
DOI: 10.1007/978-3-031-27496-1_7
Abstract
Rare disease is a collective term for disorders with a broad range of signs and symptoms. Rare diseases are 80% genetic origin. They tend to be present at birth and affect the trajectory of the individual’s physical, intellectual, and/or emotional development. Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential. In terms of physical impact, rare metabolic disorders are rare diseases that affect how the body uses food and other materials for energy and growth. Rare diseases affect multiple body parts or systems, often involving the nervous system and resulting in symptoms such as unexplained global developmental delay (GDD)/learning disability (LD), neuropsychiatric disorders, epilepsy, motor dysfunction, and intellectual and developmental disabilities (IDDs).
Rare diseases pose medical, financial, and psychological challenges for those living with IDD and related rare diseases. While each rare disease affects a limited number of individuals, the rare conditions have a total prevalence of approximately 6–8% of the global population when grouped. Around 450 million people worldwide are affected by 1 out of 5000–8000 different rare diseases; half of these individuals are children. This chapter will offer an overview of rare diseases impacting IDDs, focusing on the rare treatable disorders causing IDDs, such as phenylketonuria (PKU). It will also cover the increasing number of diagnostic measures and treatment options available for these conditions. Nursing implications for assessment and locations of resources will be presented. Lastly, a vignette addressing key issues discussed in the chapter will be presented.
Recommended Citation
Somanadhan, Suja; Johnson, Norah L.; Gilroy, Bernadette Sheehan; Lawlor, Anne; and Vockley, Jerry, "Intellectual and Developmental Disabilities and Rare Diseases" (2023). College of Nursing Faculty Research and Publications. 1046.
https://epublications.marquette.edu/nursing_fac/1046
Comments
"Intellectual and Developmental Disabilities and Rare Diseases," in Intellectual Disabilities: Health and Social Care Across the Lifespan. Eds. Fintan Sheerin and Carmel Doyle. Cham: Springer, 2023: 89-104. DOI.