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Vliet GV, Deal CL, Crock PA, et al. Sudden death in growth hormone-treated children with Prader-Willi syndrome. J Pediatr 2004; 144:129-131. The authors suggest caution in use of growth hormone in PWS.
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Dykens EM. Are jigsaw puzzle skills 'spared' in persons with Prader-Willi syndrome? J Child Psychol Psychiatry 2002; 43:343-352.
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Butler MG, Bittel DC, Kibiryeva N, et al. Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics 2004; 113 (3 Pt 1):565-573. This has been one of the few studies to differentiate type I and type II deletions. It showed that more compulsive behaviour and lower intellectual ability occurs in individuals with type I deletions than in those with type II.
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Shapira NA, Lessig MC, Murphy TK, et al. Topiramate attenuates self-injurious behaviour in Prader-Willi Syndrome. Int J Neuropsychopharmacol 2002; 5:141-145.
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Verhoeven WM, Tuinier S, Curfs LM. Prader-Willi syndrome: the psychopathological phenotype in uniparental disomy. J Med Genet 2003; 40:e112. This contributes to the evidence on the influence of PWS genetic subtype on behaviour phenotype. The study found an association between UPD and psychosis.
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Verhoeven, W.M.1
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Vogels A, Matthijs G, Legius E, et al. Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome. J Med Genet 2003; 40:72-73. This also identifies an association between psychosis and imprinting defects in PWS.
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Vogels, A.1
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Hooren RH, Widdershoven GA, Borne HW, Curfs LM. Autonomy and intellectual disability: the case of prevention of obesity in Prader-Willi syndrome. J Intellect Disabil Res 2002; 46 (Pt 7):560-568.
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Understanding the biological underpinnings of Fragile X syndrome
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Chiurazzi P, Neri G, Oostra BA. Understanding the biological underpinnings of Fragile X syndrome. Curr Opin Pediatr 2003; 15:559-566. This provides an excellent overview of Fragile X syndrome, addressing imaging electrophysiology, molecular genetics and clinical aspects with an emphasis on disorders in premutation carriers.
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Curr Opin Pediatr
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Chiurazzi, P.1
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Sunrise at the synapse: The FMRP mRNP shaping the synaptic interface
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Antar LN, Bassell GJ. Sunrise at the synapse: the FMRP mRNP shaping the synaptic interface. Neuron 2003; 37:555-558. The authors describe the links between FMRP abnormalities and dendrite pathology.
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Antar, L.N.1
Bassell, G.J.2
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A cerebellar tremor/ataxia syndrome among Fragile X premutation carriers
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Hagerman PJ, Greco CM, Hagerman RJ. A cerebellar tremor/ataxia syndrome among Fragile X premutation carriers. Cytogenet Genome Res 2003; 100:206-212. This identifies a new aspect of the Fragile X phenotype in older premutation carriers.
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Hagerman, P.J.1
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Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the Fragile-X syndrome
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Tassone F, Hagerman RJ, Taylor AK, et al. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the Fragile-X syndrome. Am J Hum Genet 2000; 66:6-15.
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Glaser B, Hessl D, Dyer-Friedman J, et al. Biological and environmental contributions to adaptive behavior in Fragile X syndrome. Am J Med Genet 2003; 117A:21-29. This provides a useful model for analysing genetic and environmental influences. The study did not find a correlation between FMRP and adaptive behaviour.
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Am J Med Genet
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Glaser, B.1
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Hatton DD, Wheeler AC, Skinner ML, et al. Adaptive behavior in children with Fragile X syndrome. Am J Ment Retard 2003; 108:373-390. These authors show the trajectory of cognitive function during development. Non-verbal IQ is initially less affected than verbal.
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Hatton, D.D.1
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Skinner, M.L.3
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A distinct neurocognitive phenotype in female Fragile-X premutation carriers assessed with visual attention tasks
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Steyaert J, Legius E, Borghgraef M, Fryns JP. A distinct neurocognitive phenotype in female Fragile-X premutation carriers assessed with visual attention tasks. Am J Med Genet 2003; 116A:44-51. This study identified attention deficits in female premutation carriers.
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Am J Med Genet
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Steyaert, J.1
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Loesch DZ, Huggins RM, Bui QM, et al. Effect of Fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis. Am J Med Genet 2003; 122A:13-23. FMRP deficits were correlated with IQ deficit, but other factors may influence cognition in premutation carriers.
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Am J Med Genet
, vol.122 A
, pp. 13-23
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Loesch, D.Z.1
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22
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Effect of the Fragile X status categories and the Fragile X mental retardation protein levels on executive functioning in males and females with Fragile X
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Loesch DZ, Bui QM, Grigsby J, et al. Effect of the Fragile X status categories and the Fragile X mental retardation protein levels on executive functioning in males and females with Fragile X. Neuropsychology 2003; 17:646-657. FMRP deficit correlated with presence of executive planning deficits.
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Neuropsychology
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Loesch, D.Z.1
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Self-injurious behavior in young boys with Fragile X syndrome
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Symons FJ, Clark RD, Hatton DD, et al. Self-injurious behavior in young boys with Fragile X syndrome. Am J Med Genet 2003; 118A:115-121. This study showed that biting the back of the hand was a common response to stress, but did not correlate with levels of FMRP.
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Am J Med Genet
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Symons, F.J.1
Clark, R.D.2
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24
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Behavioral relationship between autism and Fragile X syndrome
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Demark JL, Feldman MA, Holden JJ. Behavioral relationship between autism and Fragile X syndrome. Am J Ment Retard 2003; 108:314-326. This confirms earlier findings that, whilst Fragile X patients display some autistic behaviours, their overall behaviour phenotype is different.
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Am J Ment Retard
, vol.108
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Demark, J.L.1
Feldman, M.A.2
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25
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Sabaratnam M, Murthy NV, Wijeratne A, et al. Autistic-like behaviour profile and psychiatric morbidity in Fragile X syndrome: a prospective ten-year follow-up study. Eur Child Adolesc Psychiatry 2003; 12:172-177. This confirms earlier findings on the stability of the behaviour phenotype in Fragile X syndrome.
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Eur Child Adolesc Psychiatry
, vol.12
, pp. 172-177
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Sabaratnam, M.1
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Wijeratne, A.3
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Johnston C, Hessl D, Blasey C, et al. Factors associated with parenting stress in mothers of children with Fragile X syndrome. J Dev Behav Pediatr 2003; 24:267-275. The authors demonstrate again the linkages between child behaviour problems and parental stress.
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J Dev Behav Pediatr
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Johnston, C.1
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Carmichael B. The Human Genome Project: threat or promise? [see comment]. J Intellect Disabil Res 2003; 47 (Pt 7):505-508. This presents a thoughtful approach to an ethical controversy, of value across a range of intellectual disability syndromes.
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J Intellect Disabil Res
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Carmichael, B.1
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Psychosis, electrolyte imbalance, and velocardiofacial syndrome
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Thomas ZS. Psychosis, electrolyte imbalance, and velocardiofacial syndrome. Psychosomatics 2003; 44:348-350. This is an excellent review of the biology of VCFS and its links with psychopathology.
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Psychosomatics
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Thomas, Z.S.1
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De Smedt B, Swillen A, Ghesquiere P, et al. Pre-academic and early academic achievement in children with velocardiofacial syndrome (del22q11.2) of borderline or normal intelligence. Genet Couns 2003; 14:15-29. This identifies a specific mathematics learning deficit in some children with VCFS.
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Genet Couns
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De Smedt, B.1
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Goorhuis-Brouwer SM, Dikkers FG, Robinson PH, Kerstjens-Frederikse WS. Specific language impairment in children with velocardiofacial syndrome: four case studies. Cleft Palate Craniofac J 2003; 40:190-195. This study showed that, in this sample at least, VCFS was associated with language as well as articulation difficulties.
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Cleft Palate Craniofac J
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Goorhuis-Brouwer, S.M.1
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31
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Gothelf D, Gruber R, Presburger G, et al. Methylphenidate treatment for attention-deficit/hyperactivity disorder in children and adolescents with velocardiofacial syndrome: an open-label study. J Clin Psychiatry 2003; 64:1163-1169. Pharmacological treatment studies are few, so this one is welcome.
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J Clin Psychiatry
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Gothelf, D.1
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Avramopoulos D, Stefanis NC, Hantoumi I, et al. Higher scores of self reported schizotypy in healthy young males carrying the COMT high activity allele. Mol Psychiatry 2002; 7:706-711.
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Bray NJ, Buckland PR, Williams NM, et al. A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain. Am J Hum Genet 2003; 73:152-161. The authors demonstrate an important link between gene function and major mental illness.
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Am J Hum Genet
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Bray, N.J.1
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Barnea-Goraly N, Menon V, Krasnow B, et al. Investigation of white matter structure in velocardiofacial syndrome: a diffusion tensor imaging study. Am J Psychiatry 2003; 160:1863-1869. This provides an example of linkage between neuroanatomical changes and behaviour phenotype.
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Am J Psychiatry
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, pp. 1863-1869
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Barnea-Goraly, N.1
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Lesniak-Karpiak K, Mazzocco MM, Ross JL. Behavioral assessment of social anxiety in females with Turner or Fragile X syndrome. J Autism Dev Disord 2003; 33:55-67. The article details differences in social interaction difficulties between Turner syndrome and Fragile X syndrome.
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J Autism Dev Disord
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Lesniak-Karpiak, K.1
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Can adolescents with Williams syndrome tell the difference between lies and jokes?
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Sullivan K, Winner E, Tager-Flusberg H. Can adolescents with Williams syndrome tell the difference between lies and jokes? Dev Neuropsychol 2003; 23:85-103. This compares individuals with PWS and Williams syndrome and finds differences between neurodevelopmental disorders and acquired brain disorders.
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Dev Neuropsychol
, vol.23
, pp. 85-103
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Sullivan, K.1
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Einfeld SL, Tonge BJ. The Developmental Behavior Checklist: the development and validation of an instrument to assess behavioral and emotional disturbance in children and adolescents with mental retardation. J Autism Dev Disord 1995; 25:81-104.
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Steinhausen HC, Von Gontard A, Spohr HL, et al. Behavioral phenotypes in four mental retardation syndromes: fetal alcohol syndrome, Prader-Willi syndrome, Fragile X syndrome, and tuberosis sclerosis. Am J Med Genet 2002; 111:381-387. The authors outline differences in rates of seven psychopathology syndromes in these four disorders. Findings include that the children with fetal alcohol syndrome had the highest levels of disruptive and antisocial behaviours.
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Am J Med Genet
, vol.111
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Steinhausen, H.C.1
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