1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-1-41-a 10.15844/pedneurbriefs-1-6-3 CNS Developmental Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Fragile X Syndrome http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 11 1987 01 08 2016 1 6 41 41 Copyright: © 1987 The Author(s) 1987 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Fragile X syndrome in Japanese patients with infantile autism

Japanese patients with infantile autism were studied cytogenetically for the occurrence of fragile X (fra(x)) syndrome at the Universities of Kurume and Nagasaki.

 Fragile X Infantile Autism Male Autistic Children

Japanese patients with infantile autism were studied cytogenetically for the occurrence of fragile X (fra(x)) syndrome at the Universities of Kurume and Nagasaki. Fra(X) chromosome was detected in 2 (siblings) of 39 boys and in none of 8 girls; a frequency of 2.6% (1/38) in the study population of male autistic children. [1]

COMMENT. The fragile X syndrome is the most common familial form of mental retardation known, with an incidence of 1 in 1000 in the general population. The classical physical features in males are a long narrow face, large ears, and large testes. The pediatric neurologist may encounter cases referred because of large head circumference, hyperactive behavior and short attention span (ADD), and hand-flapping movement disorders. Poor eye contact and stereotyped movement have led to confusion with autism, reported in 5-53% of males with fragile X syndrome, and the classical manifestations have matched the DSM III diagnostic criteria for autism in some, as in the above study. For a comprehensive current overview of fragile C syndrome. [2]

 Matsuishi T Shiotsuki Y Niikawa N Katafuchi Y Otaki E Ando H Fragile X syndrome in Japanese patients with infantile autism Pediatr Neurol 1987 Sep-Oct 3 5 284 7 3334020 10.1016/0887-8994(87)90069-5 Hagerman RJ Fragile X syndrome Curr Probl Pediatr 1987 Nov 17 11 621 74 3325231 10.1016/0045-9380(87)90011-9