Abstract
There are between 5,000 and 8,000 distinct rare diseases (RDs) affecting 6-8% of the population, most of which are caused by genetic defects. Many are highly complex, childhood-onset, multi-system disorders that are often associated with developmental disability, and require lifelong, highly specialized care and support. As larger numbers of children with previously fatal RDs survive into adulthood, they encounter significant challenges in transitioning from family-centered, developmentally focused, multidisciplinary pediatric care to a less supportive adult healthcare system that is often unfamiliar with these conditions. This paper discusses the challenges of the transition from pediatric to adult health care in two groups of patients with multisystem genetic RDs (neurofibromatosis 1 [NF1] and Williams-Beuren syndrome [WBS]), and analyzes strategies for making the process easier for patients with and without developmental disabilities. Our findings show that there are still no guidelines in national healthcare programs on how to transition RD adolescents with and without developmental disabilities, and only a few pediatric centers have implemented the elements of transition in their general practice. Evidence regarding programs to facilitate transition is inconclusive and the transition from pediatric medicine to adult medicine for RDs remains a major challenge. However, transition requires both time and personnel, which are difficult to find in periods of fiscal austerity. Nevertheless, we should strongly advocate for governments investing more into transition infrastructure or they will face increased long-term social and economic costs due to poor treatment compliance, disengagement from services, increased genetic risks, and higher rates of disease-related complications.
| Original language | English |
|---|---|
| Pages (from-to) | 1666-1674 |
| Number of pages | 9 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 161 |
| Issue number | 7 |
| DOIs | |
| Publication status | Published - Jul 2013 |
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Keywords
- Adolescents
- Chronic disease
- Genetic disorders
- Neurofibromatosis 1
- Rare diseases
- Williams-Beuren syndrome
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Healthcare transition in patients with rare genetic disorders with and without developmental disability : Neurofibromatosis 1 and williams-beuren syndrome. / Van Lierde, Andrea; Menni, Francesca; Bedeschi, Maria Francesca; Natacci, Federica; Guez, Sophie; Vizziello, Paola; Costantino, Maria Antonella; Lalatta, Faustina; Esposito, Susanna.
In: American Journal of Medical Genetics, Part A, Vol. 161, No. 7, 07.2013, p. 1666-1674.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Healthcare transition in patients with rare genetic disorders with and without developmental disability
T2 - Neurofibromatosis 1 and williams-beuren syndrome
AU - Van Lierde, Andrea
AU - Menni, Francesca
AU - Bedeschi, Maria Francesca
AU - Natacci, Federica
AU - Guez, Sophie
AU - Vizziello, Paola
AU - Costantino, Maria Antonella
AU - Lalatta, Faustina
AU - Esposito, Susanna
PY - 2013/7
Y1 - 2013/7
N2 - There are between 5,000 and 8,000 distinct rare diseases (RDs) affecting 6-8% of the population, most of which are caused by genetic defects. Many are highly complex, childhood-onset, multi-system disorders that are often associated with developmental disability, and require lifelong, highly specialized care and support. As larger numbers of children with previously fatal RDs survive into adulthood, they encounter significant challenges in transitioning from family-centered, developmentally focused, multidisciplinary pediatric care to a less supportive adult healthcare system that is often unfamiliar with these conditions. This paper discusses the challenges of the transition from pediatric to adult health care in two groups of patients with multisystem genetic RDs (neurofibromatosis 1 [NF1] and Williams-Beuren syndrome [WBS]), and analyzes strategies for making the process easier for patients with and without developmental disabilities. Our findings show that there are still no guidelines in national healthcare programs on how to transition RD adolescents with and without developmental disabilities, and only a few pediatric centers have implemented the elements of transition in their general practice. Evidence regarding programs to facilitate transition is inconclusive and the transition from pediatric medicine to adult medicine for RDs remains a major challenge. However, transition requires both time and personnel, which are difficult to find in periods of fiscal austerity. Nevertheless, we should strongly advocate for governments investing more into transition infrastructure or they will face increased long-term social and economic costs due to poor treatment compliance, disengagement from services, increased genetic risks, and higher rates of disease-related complications.
AB - There are between 5,000 and 8,000 distinct rare diseases (RDs) affecting 6-8% of the population, most of which are caused by genetic defects. Many are highly complex, childhood-onset, multi-system disorders that are often associated with developmental disability, and require lifelong, highly specialized care and support. As larger numbers of children with previously fatal RDs survive into adulthood, they encounter significant challenges in transitioning from family-centered, developmentally focused, multidisciplinary pediatric care to a less supportive adult healthcare system that is often unfamiliar with these conditions. This paper discusses the challenges of the transition from pediatric to adult health care in two groups of patients with multisystem genetic RDs (neurofibromatosis 1 [NF1] and Williams-Beuren syndrome [WBS]), and analyzes strategies for making the process easier for patients with and without developmental disabilities. Our findings show that there are still no guidelines in national healthcare programs on how to transition RD adolescents with and without developmental disabilities, and only a few pediatric centers have implemented the elements of transition in their general practice. Evidence regarding programs to facilitate transition is inconclusive and the transition from pediatric medicine to adult medicine for RDs remains a major challenge. However, transition requires both time and personnel, which are difficult to find in periods of fiscal austerity. Nevertheless, we should strongly advocate for governments investing more into transition infrastructure or they will face increased long-term social and economic costs due to poor treatment compliance, disengagement from services, increased genetic risks, and higher rates of disease-related complications.
KW - Adolescents
KW - Chronic disease
KW - Genetic disorders
KW - Neurofibromatosis 1
KW - Rare diseases
KW - Williams-Beuren syndrome
UR - http://www.scopus.com/inward/record.url?scp=84879506267&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84879506267&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.35982
DO - 10.1002/ajmg.a.35982
M3 - Article
VL - 161
SP - 1666
EP - 1674
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 7
ER -