title: Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis.
abstract: OBJECTIVE
  We have never known any epidemiological study of Arima syndrome since it was first described in 1971. To investigate the number of Arima syndrome patients and clarify the clinical differences between Arima syndrome and Joubert syndrome, we performed the first nationwide survey of Arima syndrome, and herein report its results. Furthermore, we revised the diagnostic criteria for Arima syndrome.
  
  
  METHODS
  As a primary survey, we sent out self-administered questionnaires to most of the Japanese hospitals with a pediatric clinic, and facilities for persons with severe motor and intellectual disabilities, inquiring as to the number of patients having symptoms of Arima syndrome, including severe psychomotor delay, agenesis or hypoplasia of cerebellar vermis, renal dysfunction, visual dysfunction and with or without ptosis-like appearance. Next, as the second survey, we sent out detailed clinical questionnaires to the institutes having patients with two or more typical symptoms.
  
  
  RESULTS
  The response rate of the primary survey was 72.7% of hospitals with pediatric clinic, 63.5% of national hospitals and 66.7% of municipal and private facilities. The number of patients with 5 typical symptoms was 13 and that with 2-4 symptoms was 32. The response rate of the secondary survey was 52% (23 patients). After reviewing clinical features of 23 patients, we identified 7 Arima syndrome patients and 16 Joubert syndrome patients. Progressive renal dysfunction was noticed in all Arima syndrome patients, but in 33% of those with Joubert syndrome.
  
  
  CONCLUSIONS
  It is sometimes difficult to distinguish Arima syndrome from Joubert syndrome. Some clinicians described a patient with Joubert syndrome and its complications of visual dysfunction and renal dysfunction, whose current diagnosis was Arima syndrome. Thus, the diagnosis of the two syndromes may be confused. Here, we revised the diagnostic criteria for Arima syndrome.
authors.affiliation: Consortium of Clinical and Basic Research for Arima Syndrome, Japan; Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry, Kodaira, Japan. Electronic address: itoh@ncnp.go.jp.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Itoh
authors.affiliation: Consortium of Clinical and Basic Research for Arima Syndrome, Japan; Division of Pediatrics, Tokyo Metropolitan Tobu Medical Center for Persons with Developmental and Multiple Disabilities, Tokyo, Japan.
authors.forename: Yuji
authors.initials: Y
authors.lastname: Iwasaki
authors.affiliation: Consortium of Clinical and Basic Research for Arima Syndrome, Japan; Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan.
authors.forename: Kohsaku
authors.initials: K
authors.lastname: Ohno
authors.affiliation: Consortium of Clinical and Basic Research for Arima Syndrome, Japan; Division of Pediatrics, The Veritas Hospital, Kawanishi, Japan.
authors.forename: Takehiko
authors.initials: T
authors.lastname: Inoue
authors.affiliation: Consortium of Clinical and Basic Research for Arima Syndrome, Japan; Department of Brain Development and Neural Regeneration, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.
authors.forename: Masaharu
authors.initials: M
authors.lastname: Hayashi
authors.affiliation: Consortium of Clinical and Basic Research for Arima Syndrome, Japan; Division of Nephrology and Rheumatology, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Shuichi
authors.initials: S
authors.lastname: Ito
authors.affiliation: Consortium of Clinical and Basic Research for Arima Syndrome, Japan; Division of Pediatrics, Nagasaki Prefectural Rehabilitation Center for Disabled Children, Nagasaki, Japan.
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Matsuzaka
authors.affiliation: Consortium of Clinical and Basic Research for Arima Syndrome, Japan; Division of Pediatrics, Tokyo Metropolitan Tobu Medical Center for Persons with Developmental and Multiple Disabilities, Tokyo, Japan.
authors.forename: Shuhei
authors.initials: S
authors.lastname: Ide
authors.affiliation: Consortium of Clinical and Basic Research for Arima Syndrome, Japan; Division of Pediatrics, Tokyo Metropolitan Tobu Medical Center for Persons with Developmental and Multiple Disabilities, Tokyo, Japan.
authors.forename: Masataka
authors.initials: M
authors.lastname: Arima
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D002526:Cerebellar Diseases / Q000175:diagnosis* / Q000453:epidemiology*; D002531:Cerebellum / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D003103:Coloboma / Q000175:diagnosis* / Q000453:epidemiology*; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000175:diagnosis / Q000453:epidemiology; D005260:Female; D006801:Humans; D007564:Japan / Q000453:epidemiology; D052177:Kidney Diseases, Cystic / Q000175:diagnosis / Q000453:epidemiology; D008297:Male; D007690:Polycystic Kidney Diseases / Q000175:diagnosis* / Q000453:epidemiology*; D012160:Retina / Q000002:abnormalities; D055815:Young Adult
keywords: Arima syndrome; Diagnostic criteria; Epidemiological study; Joubert syndrome; Nationwide survey