TY - JOUR
T1 - Healthcare recommendations for Joubert syndrome
AU - Bachmann-Gagescu, Ruxandra
AU - Dempsey, Jennifer C.
AU - Bulgheroni, Sara
AU - Chen, Maida L.
AU - D'Arrigo, Stefano
AU - Glass, Ian A.
AU - Heller, Theo
AU - Héon, Elise
AU - Hildebrandt, Friedhelm
AU - Joshi, Nirmal
AU - Knutzen, Dana
AU - Kroes, Hester Y.
AU - Mack, Stephen H.
AU - Nuovo, Sara
AU - Parisi, Melissa A.
AU - Snow, Joseph
AU - Summers, Angela C.
AU - Symons, Jordan M.
AU - Zein, Wadih M.
AU - Boltshauser, Eugen
AU - Sayer, John A.
AU - Gunay-Aygun, Meral
AU - Valente, Enza Maria
AU - Doherty, Dan
N1 - Funding Information:
While caring for a loved one with significant healthcare needs and/or neurodevelopmental disability is often very rewarding, it can also be emotionally and cognitively challenging. Families in need can draw support from other family members, medical providers, mental health providers, social workers, community resources, and family support organizations like the Joubert Syndrome and Related Disorders Foundation (https://jsrdf.org), the Asociación de Familias con Síndrome de Joubert y Trastornos Relacionados (https://asociacionfabert.wixsite.com/fabert), Associazione Italiana Sindrome di Joubert e Atassie Congenite (http://www.aisjac.net), and the Ciliopathy Alliance (www.ciliopathyalliance.org). In addition, “respite care” can provide primary caregiver(s) breaks from caring for others so that they can rest and care for themselves. Information about respite care resources is available from a variety of providers, and at https://www.childwelfare.gov/topics/preventing/prevention‐programs/respite/ and https://archrespite.org/respitelocator for the United States.
Publisher Copyright:
© 2019 Wiley Periodicals, Inc.
PY - 2020/1/1
Y1 - 2020/1/1
N2 - Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the “Molar Tooth Sign”. Although defined by the neurological features, JS is associated with clinical features affecting many other organ systems, particularly progressive involvement of the retina, kidney, and liver. JS is a rare condition; therefore, many affected individuals may not have easy access to subspecialty providers familiar with JS (e.g., geneticists, neurologists, developmental pediatricians, ophthalmologists, nephrologists, hepatologists, psychiatrists, therapists, and educators). Expert recommendations can enable practitioners of all types to provide quality care to individuals with JS and know when to refer for subspecialty care. This need will only increase as precision treatments targeting specific genetic causes of JS emerge. The goal of these recommendations is to provide a resource for general practitioners, subspecialists, and families to maximize the health of individuals with JS throughout the lifespan.
AB - Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the “Molar Tooth Sign”. Although defined by the neurological features, JS is associated with clinical features affecting many other organ systems, particularly progressive involvement of the retina, kidney, and liver. JS is a rare condition; therefore, many affected individuals may not have easy access to subspecialty providers familiar with JS (e.g., geneticists, neurologists, developmental pediatricians, ophthalmologists, nephrologists, hepatologists, psychiatrists, therapists, and educators). Expert recommendations can enable practitioners of all types to provide quality care to individuals with JS and know when to refer for subspecialty care. This need will only increase as precision treatments targeting specific genetic causes of JS emerge. The goal of these recommendations is to provide a resource for general practitioners, subspecialists, and families to maximize the health of individuals with JS throughout the lifespan.
KW - Joubert syndrome
KW - ciliopathy
KW - kidney
KW - liver
KW - retina
KW - treatment
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U2 - 10.1002/ajmg.a.61399
DO - 10.1002/ajmg.a.61399
M3 - Review article
C2 - 31710777
AN - SCOPUS:85074995818
VL - 182
SP - 229
EP - 249
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -