SEARCH

SEARCH BY CITATION

REFERENCES

  • Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh JT, Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L. 2006. Clinical features and management issues in Mowat–Wilson syndrome. Am J Med Genet Part A 140A: 27302741.
  • Adam MP, Justice AN, Bean LJ, Fernhoff PM. 2008. Mowat–Wilson syndrome with craniosynostosis: A case report. Am J Med Genet Part A 146A: 245246.
  • Amiel J, Espinosa-Parrilla Y, Steffann J, Gosset P, Pelet A, Prieur M, Boute O, Choiset A, Lacombe D, Philip N, Le Merrer M, Tanaka H, Till M, Touraine R, Toutain A, Vekemans M, Munnich A, Lyonnet S. 2001. Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. Am J Hum Genet 69: 13701377.
  • American Psychiatric Association. 1987. Diagnostic and statistical manual of mental disorders, 3rd edition, Revised. Washington, DC: American Psychiatric Association Press.
  • American Psychiatric Association. 2000. Diagnostic and statistical manual of mental disorders, 4th edition, Text revision. Washington, DC: American Psychiatric Association Press.
  • Barry RJ, Leitner RP, Clarke AR, Einfeld SL. 2005. Behavioral aspects of Angelman syndrome: A case control study. Am J Med Genet Part A 132A: 812.
  • Bayley N. 1993. Bayley Scales of infant development, 2nd edition. San Antonio, TX: The Psychological Corporation.
  • Biersdorff KK. 1994. Incidence of significantly altered pain experience among individuals with developmental disabilties. Am Journal Ment Retard 98: 619631.
  • Breau LM, Camfield CS, McGrath PJ, Rosmus C, Finley GA. 2001. Measuring pain accurately in children with cognitive impairments: Refinement of a caregiver scale. J Pediatr 138: 721727.
  • Brereton AV, Tonge BJ, Mackinnon AJ, Einfeld SL. 2002. Screening young people for autism with the developmental behavior checklist. J Am Acad Child Adolesc Psychiatry 41: 13691375.
  • Cassidy S, Forsythe M, Heeger S, Nicholls RD, Schork N, Benn P, Schwartz S. 1997. Comparison of phenotype between patients with Prader–Willi syndrome due to deletion 15q and uniparental disomy 15. Am J Med Genet 68: 433440.
  • Cassidy S, Dykens E, Williams CA. 2000. Prader–Willi and Angelman syndromes: Sister imprinted disorders. Am J Med Genet 97: 136146.
  • Cerruti Mainardi P, Pastore G, Zweier C, Rauch A. 2004. Mowat–Wilson syndrome and mutation in the zinc finger homeo box 1B gene: A well defined clinical entity. J Med Genet 41: e6.
  • Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M. 2007. ZFHX1B mutations in patients with Mowat–Wilson syndrome. Hum Mutat 28: 313321.
  • Dekker MC, Koot HM, van der Ende J, Verhulst FC. 2002. Emotional and behavioral problems in children and adolescents with and without intellectual disability. J Child Psychol Psychiatry 43: 10871098.
  • Didden R, Korzilius H, Sturmey P, Lancioni GE, Curfs LMG. 2008. Preference for water-related items in Angelman syndrome, Down syndrome and non-specific intellectual disability. J Intellect Dev Disabil 33: 5964.
  • Dunn D. 1959. Peabody picture vocabulary test. Nashville TN: American Guidance Services.
  • Dunn D, Dunn L. 1981. Peabody picture vocabulary test, Revised. Circle Pines, MN: American Guidance Services.
  • Dunn L, Dunn L. 1997. The peabody picture vocabulary test, 3rd edition. Circle Pines, MN: American Guidance Service.
  • Dunn D, Dunn L. 2007. Peabody picture vocabulary test, 4th edition. Minneapolis, MN: Pearson Assessments.
  • Einfeld SL, Tonge BJ. 1995. 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 25: 81104.
  • Einfeld SL, Tonge BJ. 1996a. Population prevalence of psychopathology in children and adolescents with intellectual disability: I. Rationale and methods. J Intellect Disabil Res 40: 9198.
  • Einfeld SL, Tonge BJ. 1996b. Population prevalence of psychopathology in children and adolescents with intellectual disability: II. Epidemiological findings. J Intellect Disabil Res 40: 99109.
  • Einfeld SL, Tonge BJ. 2002. Manual for the Developmental Behaviour Checklist Second Edition—Primary Carer Version. (DBC-P) and Teacher Version (DBC-T). Sydney and Melbourne: The University of New South Wales and Monash University.
  • Einfeld SL, Piccinin AM, Mackinnon A, Hofer SM, Taffe JR, Gray KM, Bontempo DE, Hoffman LR, Parmenter T, Tonge BJ. 2006. Psychopathology in young people with intellectual disability. JAMA 296: 19811989.
  • Engenheiro E, Moller RS, Pinto M, Soares G, Nikanorova M, Carreira IM, Ullmann R, Tommerup N, Tumer Z. 2008. Mowat–Wilson syndrome: An underdiagnosed syndrome? Clin Genet 73: 579584.
  • Fessler DM, Abrams ET. 2004. Infant mouthing behavior: The immunocalibration hypothesis. Med Hypotheses 62: 925932.
  • Foley DC, McCutcheon HM. 2004. Detecting pain in people with an intellectual disability. Accid Emerg Nurs 12: 196200.
  • Frankenburg WK, Dodds JB, Shapiro H. 1992. The Denver II: A major revision and restandardization of the Denver Developmental Screening Test. Pediatrics 89: 9197.
  • Garavelli L, Cerruti Mainardi P. 2007. Mowat–Wilson syndrome. Orphanet J Rare Dis 2: 42.
  • Garavelli L, Cerruit Mainardi P, Virdis R, Pedori S, Pastore G, Godi M, Provera S, Rauch A, Zweier C, Zollino M, Banchini G, Longo N, Mowat D, Neri G, Bernasconi S. 2005. Genitourinary anomalies in Mowat–Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review. Horm Res 63: 187192.
  • Garavelli L, Zollino M, Cerruti Mainardi P, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, Wakamatsu N, Neri G. 2009. Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature. Am J Med Genet Part A 149A: 417426.
  • Griffiths R. 1984. The abilities of young children. Bucks, UK: The Test Agency Ltd.
  • Griffiths R. 1986. The abilities of babies. Oxon, UK: The Test Agency Ltd.
  • Griffiths R. 1996. The Griffiths Mental Development Scales 1996 revision (revised by M. Huntley). Henley, UK: Association for Research in Infant and Child Development, Test Agency.
  • Hennequin M, Morin C, Feine JS. 2000. Pain expression and stimulus localisation in individuals with Down's syndrome. Lancet 356: 18821887.
  • Horsler K, Oliver C. 2006. The behavioural phenotype of Angelman syndrome. J Intellect Disabil Res 50: 3353.
  • Hublin C, Kapiro J, Partinen M, Koskenvuo M. 1998. Sleep bruxism based on self-report in a nationwide twin cohort. J Sleep Res 7: 6167.
  • Kaufman A, Kaufman N. 2004. KBIT2: Kaufman brief intelligence test, 2nd edition. Circle Pines, MN: American Guidance Service.
  • Lobbezoo F, Van Der Zaag J, Naeije M. 2006. Bruxism: its multiple causes and its effects on dental implants—An updated review. J Oral Rehabil 33: 293300.
  • Luiselli JK. 1998. Treatment of self-injurious hand-mouthing in a child with multiple disabilities. J Dev Phys Disabil 10: 167174.
  • Matson JL. 1995. The Matson evaluation of social skills for individuals with severe retardation. Baton Rouge, LA: Scientific Publishers.
  • Mohr C, Tonge B, Einfeld S. 2004. The Developmental Behaviour Checklist for Adults (DBC-A): Supplement to the Manual for the Developmental Checklist—DBC-P and DBC-T. Melbourne, Victoria: The University of New South Wales and Monash University.
  • Mowat DR, Wilson MJ. 2010. Mowat–Wilson syndrome. In: Cassidy SB, Allanson, JE, editors. Management of genetic syndromes, 2e. New York: John Wiley and Sons. pp 517529.
  • Mowat DR, Croaker G, Cass D, Kerr B, Chaitow J, Ades L, Chia N, Wilson MJ. 1998. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: Delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. J Med Genet 35: 617623.
  • Mowat DR, Wilson MJ, Goossens M. 2003. Mowat–Wilson syndrome. J Med Genet 40: 305310.
  • Muhle R, Tretacoste SV, Rapin I. 2004. The genetics of autism. Pediatrics 113: e472e486.
  • Nagasako EM, Oaklander AL, Dworkin RH. 2003. Congenital insensitivity to pain: An update. Pain 101: 213219.
  • Ohtsuka M, Oguni H, Ito Y, Nakayama T, Matsuo M, Osawa M, Saito K, Yamada Y, Wakamatsu N. 2008. Mowat–Wilson syndrome affecting 3 siblings. J Child Neurol 23: 274278.
  • Pelc K, Cheron G, Dan B. 2008. Behavior and neuropsychiatric manifestations in Angelman syndrome. Neuropsychiatr Dis Treat 4: 577584.
  • Rauch A. 2008. ZFHX1B Mutation database (Mowat–Wilson syndrome). Retrieved 3 June, 2008, from http://www.humgenet.uni-erlangen.de/2k/AGRauch_ZFHX1B.html.
  • Roid G. 2003. The Stanford–Binet Intelligence Scales, 5th edition. Itaska, IL: Riverside.
  • Sasongko TH, Hamim A, Gunadi S, Lee MJ, Koterazawa K, Nishio H. 2007. Nonsense mutations of the ZFHX1B gene in two Japanese girls with Mowat–Wilson syndrome. Kobe J Med Sci 53: 157162.
  • Sasso A, Paucic-Kirincic E, Kamber-Makek S, Sindicic N, Brajnovic-Zaputovic S, Brajenovic-Milic B, Sasso A, Paucic-Kirincic E, Kamber-Makek S, Sindicic N, Brajenovic-Milic B. 2008. Mowat–Wilson syndrome: The clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816). Childs Nerv Syst 24: 615618.
  • Schneider MJ, Loots GMP, Reuter J. 1990. Kent Infant Development Scale, Nederlandse berkweking (KID-N). Lisse, The Netherlands: Swets and Zeitlinger.
  • Slosson RL. 1963. The Slosson Intelligence Test. East Aurora, NY: Slosson Educational Publications.
  • Slosson RL, Nicholson CL, Hibpshman TH. 1998. The Slosson Intelligence Test, Revised. East Aurora, NY: Slosson Educational Publications.
  • Slosson RL, Nicholson CL, Hibpshman TH. 2002. The Slosson Intelligence Test, Revised, 3rd edition. East Aurora, NY: Slosson Educational Publications.
  • Sparrow S, Balla D, Cicchetti D. 1984a. The Vineland Adaptive Behaviour Scales. Interview Edition Survey Form. Circle Pines, MN: American Guidance Service.
  • Sparrow SS, Balla DA, Cicchetti DV. 1984b. The Vineland Adaptive Behavior Scales: Survey Form. Circle Pines, MN: American Guidance Service.
  • Sparrow SS, Balla DA, Cicchetti DV. 1985. The Vineland Adaptive Behavior Scales: Classroom Edition. Circle Pines, MN: American Guidance Service.
  • Statacorp. 2003. Stata Statistical Software: Release 8. College Station, TX: Statacorp LP.
  • Taffe JR, Tonge BJ, Gray KM, Einfeld SL. 2008. Extracting more information from behaviour checklists by using components of mean based scores. Int J Methods Psychiatr Res 17: 232240.
  • Takahashi K, Saitoh A, Yamada Y, Maruyama Y, Hirose N, Kamei J, Yamada M. 2008. Gene expression profiling reveals complex changes in the olfactory bulbectomy model of depression after chronic treatment with antidepressants. J Pharmacol Sci 108: 320334.
  • Thorndike RL, Hagen EP, Sattler JM. 1986. The Stanford–Binet Intelligence Scales, 4th edition. Itaska, IL: Riverside.
  • Tonge BJ, Einfeld SL. 2000. The trajectory of psychiatric disorders in young people with intellectual disabilities. Aust N Z J Psychiatry 34: 8084.
  • Turner WD, Realon RE, Irvin D, Robinson R. 1996. The effects of implementing program consequences with a group of individuals who engaged in sensory maintained hand mouthing. Res Dev Disabil 17: 311330.
  • Udwin O, Dennis J. 1995. Psychological and behavioural phenotypes in genetically determined syndromes: A review of research findings. In: O'Brien G, Yule W, editors. Behavioural phenotypes. London: Mac Keith Press. pp 90108.
  • Verstappen G, van Grunsven LA, Michiels C, Van de Putte T, Souopgui J, Van Damme J, Bellefroid E, Vandekerckhove J, Huylebroeck D. 2008. Atypical Mowat–Wilson patient confirms the importance of the novel association between ZFHX1B/SIP1 and NuRD corepressor complex. Hum Mol Genet 17: 11751183.
  • Wakamatsu N, Yamada Y, Yamada K, Ono T, Nomura N, Taniguchi H, Kitoh H, Mutoh N, Yamanaka T, Mushiake K, Kato K, Sonta S, Nagaya M. 2001. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Nat Genet 27: 369370.
  • Weschler D. 1991. The Weschler Intelligence Scale for Children—Third Edition (WISC-III). San Antonio, TX: The Psychological Corporation.
  • Weschler D. 2003. The Weschler Intelligence Scale for Children—Fourth Edition (WISC-IV). San Antonio, TX: The Psychological Corporation.
  • Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J. 2006. Angelman syndrome 2005: Updated consensus for diagnostic criteria. Am J Med Genet Part A 140A: 413418.
  • Wilson M, Mowat D, Dastot-Le Moal F, Cacheux V, Kaariainen H, Cass D, Donnai D, Clayton-Smith J, Townshend S, Curry C, Gattas M, Braddock S, Kerr B, Aftimos S, Zehnwirth H, Barrey C, Goossens M. 2003. Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B. Am J Med Genet Part A 119A: 257265.
  • Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G, Rott HD, Rauch A. 2002. “ Mowat–Wilson” syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. Am J Med Genet 108: 177181.
  • Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kaariainen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mucke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A. 2005. Clinical and mutational spectrum of Mowat–Wilson syndrome. Eur J Med Genet 48: 97111.