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Fragile X Syndrome-Associated Emergency Department Visits in the United States, 2006-2011. 2020

Thuy Quynh N Do, and Catharine Riley, and Pangaja Paramsothy, and Lijing Ouyang, and Julie Bolen, and Scott D Grosse
Thuy Quynh N. Do, Catharine Riley, Pangaja Paramsothy, Lijing Ouyang, Julie Bolen, and Scott D. Grosse, Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities.

Using national data, we examined emergency department (ED) encounters during 2006-2011 for which a diagnosis code for fragile X syndrome (FXS) was present (n = 7,217). Almost half of ED visits coded for FXS resulted in hospitalization, which is much higher than for ED visits not coded for FXS. ED visits among females coded for FXS were slightly more likely to result in hospitalization. These findings underscore the importance of surveillance systems that could accurately identify individuals with FXS, track healthcare utilization and co-occurring conditions, and monitor quality of care in order to improve care and reduce FXS-associated morbidity.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D004636 Emergency Service, Hospital Hospital department responsible for the administration and provision of immediate medical or surgical care to the emergency patient. Emergency Outpatient Unit,Emergency Services Utilization,Hospital Emergency Room,Hospital Emergency Service,Hospital Emergency Services Utilization,Accident and Emergency Department,Emergency Departments,Emergency Hospital Service,Emergency Room,Emergency Units,Emergency Ward,Hospital Service Emergency,Service, Hospital Emergency,Department, Emergency,Departments, Emergency,Emergencies, Hospital Service,Emergency Department,Emergency Hospital Services,Emergency Outpatient Units,Emergency Room, Hospital,Emergency Rooms,Emergency Rooms, Hospital,Emergency Services, Hospital,Emergency Unit,Emergency Wards,Emergency, Hospital Service,Hospital Emergency Rooms,Hospital Emergency Services,Hospital Service Emergencies,Hospital Service, Emergency,Hospital Services, Emergency,Outpatient Unit, Emergency,Outpatient Units, Emergency,Room, Emergency,Room, Hospital Emergency,Rooms, Emergency,Rooms, Hospital Emergency,Service Emergencies, Hospital,Service Emergency, Hospital,Service, Emergency Hospital,Services Utilization, Emergency,Services Utilizations, Emergency,Services, Emergency Hospital,Services, Hospital Emergency,Unit, Emergency,Unit, Emergency Outpatient,Units, Emergency,Units, Emergency Outpatient,Utilization, Emergency Services,Ward, Emergency,Wards, Emergency
D005260 Female Females
D005600 Fragile X Syndrome A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226) FRAXA Syndrome,FRAXE Syndrome,Martin-Bell Syndrome,Fra(X) Syndrome,Fragile X Mental Retardation Syndrome,Fragile X-F Mental Retardation Syndrome,Mar (X) Syndrome,Marker X Syndrome,Mental Retardation, X-Linked, Associated With Fragile Site Fraxe,Mental Retardation, X-Linked, Associated With Marxq28,X-Linked Mental Retardation and Macroorchidism,FRAXA Syndromes,FRAXE Syndromes,Fragile X Syndromes,Marker X Syndromes,Martin Bell Syndrome,Syndrome, FRAXA,Syndrome, FRAXE,Syndrome, Fragile X,Syndrome, Marker X,Syndrome, Martin-Bell,Syndromes, FRAXA,Syndromes, FRAXE,Syndromes, Fragile X,Syndromes, Marker X,X Linked Mental Retardation and Macroorchidism
D006760 Hospitalization The confinement of a patient in a hospital. Hospitalizations
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000078336 Facilities and Services Utilization Extent of use of facilities or services. It includes overuse and underuse. Facilities Utilization,Services Utilization,Facilities Utilizations,Services Utilizations

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