TY - JOUR
T1 - Results of the First GNAO1-Related Neurodevelopmental Disorders Caregiver Survey
AU - Axeen, Erika
AU - Bell, Emily
AU - Robichaux Viehoever, Amy
AU - Schreiber, John M.
AU - Sidiropoulos, Christos
AU - Goodkin, Howard P.
N1 - Publisher Copyright:
© 2021 Elsevier Inc.
PY - 2021/8
Y1 - 2021/8
N2 - Background: We sought to expand our knowledge of the clinical spectrum of GNAO1-related neurodevelopmental disorders through a caregiver survey reviewing medical and developmental history and development of epilepsy and movement disorders. Methods: An online survey was administered to caregivers of individuals diagnosed with GNAO1 pathogenic variants. Results: Eighty-two surveys were completed. Nearly all (99%) reported the first symptom of concern by age one year with the most frequently identified concerns as hypotonia (68%), developmental delay (67%), seizures (29%), difficulty feeding (23%), and abnormal movements (20%). All caregivers reported developmental delays with a spectrum of severity. Movement disorders (76%) were more common than epilepsy (52%), although 33% reported both. The onset of seizures tended to be earlier than abnormal movements. Nearly half (48%) of those with any seizures, reported they were no longer having recurrent seizures. No single most effective medication for movement disorders or epilepsy was noted. Ten participants have had deep brain stimulator for their movement disorder, and all indicated positive effects. Conclusions: GNAO1-related neurodevelopmental disorders most often present within the first year of life with nonspecific symptoms of hypotonia or developmental delay. Although associated epilepsy and movement disorders can be severe, GNAO1-associated epilepsy may not always be medically refractory or lifelong.
AB - Background: We sought to expand our knowledge of the clinical spectrum of GNAO1-related neurodevelopmental disorders through a caregiver survey reviewing medical and developmental history and development of epilepsy and movement disorders. Methods: An online survey was administered to caregivers of individuals diagnosed with GNAO1 pathogenic variants. Results: Eighty-two surveys were completed. Nearly all (99%) reported the first symptom of concern by age one year with the most frequently identified concerns as hypotonia (68%), developmental delay (67%), seizures (29%), difficulty feeding (23%), and abnormal movements (20%). All caregivers reported developmental delays with a spectrum of severity. Movement disorders (76%) were more common than epilepsy (52%), although 33% reported both. The onset of seizures tended to be earlier than abnormal movements. Nearly half (48%) of those with any seizures, reported they were no longer having recurrent seizures. No single most effective medication for movement disorders or epilepsy was noted. Ten participants have had deep brain stimulator for their movement disorder, and all indicated positive effects. Conclusions: GNAO1-related neurodevelopmental disorders most often present within the first year of life with nonspecific symptoms of hypotonia or developmental delay. Although associated epilepsy and movement disorders can be severe, GNAO1-associated epilepsy may not always be medically refractory or lifelong.
KW - Developmental and epileptic encephalopathy
KW - Epilepsy
KW - GNAO1
KW - Genetic
KW - Movement disorder
KW - Neurodevelopmental disorder
UR - http://www.scopus.com/inward/record.url?scp=85107755127&partnerID=8YFLogxK
U2 - 10.1016/j.pediatrneurol.2021.05.005
DO - 10.1016/j.pediatrneurol.2021.05.005
M3 - Article
C2 - 34139551
AN - SCOPUS:85107755127
SN - 0887-8994
VL - 121
SP - 28
EP - 32
JO - Pediatric Neurology
JF - Pediatric Neurology
ER -