Understanding fragile X syndrome

Current Paediatrics

Volumn 12, Issue 4, 2002, Pages 316-324

  Berry Kravis, Elizabeth ^a   Grossman, Aaron W ^b   Crnic, Linda S ^c   Greenough, William T ^b  

^a RUSH UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY OF ILLINOIS AT URBANA CHAMPAIGN   (United States)

^c UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

Author keywords

Autism; Behaviour; Cognition; Diagnosis; Features; FMRI; FMRP; Hyperactivity; Mental retardation; Phenotype; Therapy, treatment

Indexed keywords

ALPHA 2 ADRENERGIC RECEPTOR STIMULATING AGENT; AMITRIPTYLINE; ANTIDEPRESSANT AGENT; CARBAMAZEPINE; CITALOPRAM; CLONIDINE; DNA; FLUOXETINE; FLUVOXAMINE MALEATE; GUANFACINE; IMIPRAMINE; MESSENGER RNA; METHYLPHENIDATE; NEUROLEPTIC AGENT; PSYCHOSTIMULANT AGENT; RISPERIDONE; SEROTONIN UPTAKE INHIBITOR; SERTRALINE; TRICYCLIC ANTIDEPRESSANT AGENT; VALPROIC ACID; VENLAFAXINE;

AGGRESSION; ANXIETY NEUROSIS; ATTENTION DEFICIT DISORDER; AUTISM; BEHAVIOR DISORDER; CHILD; CHILD BEHAVIOR; CLINICAL FEATURE; COMPULSION; EDUCATION PROGRAM; FEMALE; FRAGILE X SYNDROME; GASTROESOPHAGEAL REFLUX; GENE THERAPY; GENETIC COUNSELING; HEART VALVE PROLAPSE; HUMAN; HYPERACTIVITY; LANGUAGE DEVELOPMENT; MALE; MENTAL DEFICIENCY; MENTAL DEVELOPMENT; MENTAL DISEASE; OCCUPATIONAL THERAPY; OTITIS MEDIA; PHENOTYPE; PSYCHOPHARMACOTHERAPY; REVIEW; SCOLIOSIS; SEIZURE; SIDE EFFECT; SLEEP DISORDER; SOCIAL INTERACTION; SPEECH THERAPY; STRABISMUS; WEIGHT GAIN;

EID: 0036697371     PISSN: 09575839     EISSN: None     Source Type: Journal    
DOI: 10.1054/cupe.2002.0305     Document Type: Article

References (25)

1. Hagerman R J. Physical and behavioral phenotype. In: Hagerman RJ, Cronister A (eds). Fragile X Syndrome: Diagnosis, Treatment and Research. Baltimore: Johns Hopkins University Press, 1996; 3-87.
2. Khandjian E W. Biology of the fragile X mental retardation protein, an RNA-binding protein. Biochem Cell Biol 1999; 77: 331-342.
3. Weiler I J, Greenough W T. Synaptic synthesis of the fragile X protein: possible involvement in synapse maturation and elimination. Am J Med Genet 1999; 83: 248-252.
4. Churchill J D, Grossman A W, Irwin S A et al. A converging-methods approach to fragile X syndrome. Dev Psychobiol 2002; 40(3): 323-338.
5. Bailey D B, Hatton D D, Skinner M. Early developmental trajectories of males with fragile X syndrome. Am J Ment Retard 1998; 103: 29-39.
6. Tassone F, Hagerman R J, Ikle D N et al. FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet 1999; 84: 250-261.
7. Dykens E M, Hodapp R M, Ort S, Finucane B, Shapiro L R, Leckman J F. The trajectory of cognitive development in males with fragile X syndrome. J Am Acad Child Adolesc Psychiatry 1989; 28: 422-426.
8. Freund L, Reiss A L. Cogntive profiles associated with the fra(X) syndrome in males and females. Am J Med Genet 1991; 38: 542-547.
9. Hodapp R M, Leckman J F, Dykens E M, Sparrow S S, Zelinsky D G, Ort S J. K-ABC profiles in children with fragile X syndrome, Down syndrome, and nonspecific mental retardation. Am J Ment Retard 1992; 97: 39-46.
10. Bennetto L, Pennington B F, Porter D, Taylor A K, Hagerman R J. Profile of cognitive functioning in women with the fragile X mutation. Neuropsychology 2001; 15: 290-299.
11. Fisch G S, Holden J J, Carpenter N et al. Age-related language characteristics of children and adolescents with fragile X syndrome. Am J Med Genet 1999; 83: 253-256.
12. Mazzocco M M, Kates W R, Baumgardner T L, Freund L S, Reiss A L. Autistic behaviors among girls with fragile X syndrome. J Autism Dev Disord 1997; 27: 415-435.
13. Butler M G, Brunschwig A, Miller L K, Hagerman RJ. Standards for selected anthropometric measurements in males with the fragile X syndrome. Pediatrics 1992; 89: 1059-1062.
14. Willemsen R, Anar B, De Diego Otero Y et al. Noninvasive test for fragile X syndrome, using hair root analysis. Am J Hum Genet 1999; 65: 98-103.
15. Lachiewicz A M, Dawson D V, Spiridigliozzi G A. Physical characteristics of young boys with fragile X syndrome: reasons for difficulties making a diagnosis in young males. Am J Med Genet 2000; 92: 229-236.
16. Curry C J, Stevenson R E, Aughton D et al. Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. Am J Med Genet 1997; 72: 468-477.
17. Lachiewicz A, Dawson D V, McConkie-Rosell A, Spiridigliozzi G A. Mathematics weakness in premutation females with the fragile X syndrome. Proceedings of the 7th International Fragile X Conference, 2000.
18. Loesch D Z, Hay D A, Mulley J. Transmitting males and carrier females in fragile X-revisited. Am J Med Genet 1994; 51: 392-399.
19. Sherman S L. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 2000; 97: 189-194.
20. Hagerman R J, Leehey M, Heinrichs W et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001; 57: 127-130.
21. Maino D M, Schlange D, Maino J H, Caden B. Ocular anomalies in fragile X syndrome. J Am Optom Assoc 1990; 61: 316-323.
22. Musumeci S A, Hagerman R J, Ferri R, Bosco P, Dalla Bernadino B, Tassinari C A, DeSarro G B, Elia M. Epilepsy and EEG findings in males with fragile X syndrome. Epilepsia 1999; 40: 1092-1099.
23. Berry-Kravis E. Characterization of epilepsy in fragile X syndrome. Ann Neurol 2001; 50: S108.
24. Hagerman R J, Murphy M A, Wittenberger M D. A controlled trial of stimulant medication in children with the fragile X syndrome. Am J Med Genet 1988; 30: 377-392.
25. Hessl D, Dyer-Friedman J, Glaser B, Wisbeck J, Barajas R G, Taylor A, Reiss A L. The influence of environmental and genetic factors on behavior problems and autistic symptoms in boys and girls with fragile X syndrome. Pediatrics 2001; 108: E88.