Cognitive, adaptive, and behavioral features in Joubert syndrome

American Journal of Medical Genetics, Part A

Volumn 170, Issue 12, 2016, Pages 3115-3124

  Bulgheroni, Sara ^a   D'Arrigo, Stefano ^a   Signorini, Sabrina ^b   Briguglio, Marilena ^c   Di Sabato, Maria Lucia ^d   Casarano, Manuela ^e   Mancini, Francesca ^f   Romani, Marta ^f   Alfieri, Paolo ^g   Battini, Roberta ^e   Zoppello, Marina ^b   Tortorella, Gaetano ^c   Bertini, Enrico ^g   Leuzzi, Vincenzo ^d   Valente, Enza Maria ^h,i   Riva, Daria ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^c UNIVERSITY OF MESSINA   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^f CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^g BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^h UNIVERSITY OF SALERNO   (Italy)

ⁱ IRCCS FONDAZIONE SANTA LUCIA   (Italy)

Author keywords

adaptive behavior; behavioral disorder; intelligence; Joubert syndrome

Indexed keywords

ADAPTIVE BEHAVIOR; ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL FEATURE; COGNITION; COMMUNICATION SKILL; FEMALE; HUMAN; INFANT; INTELLIGENCE QUOTIENT; JOUBERT SYNDROME; KIDNEY DISEASE; LIVER DISEASE; MAJOR CLINICAL STUDY; MALE; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; QUESTIONNAIRE; RETINA DISEASE; SOCIAL ADAPTATION; ABNORMALITIES; ABNORMALITIES, MULTIPLE; BRAIN; CEREBELLUM; DIAGNOSTIC IMAGING; EMOTION; EYE ABNORMALITIES; INTELLECTUAL DISABILITY; KIDNEY DISEASES, CYSTIC; PATHOPHYSIOLOGY; PHYSIOLOGY; PRESCHOOL CHILD; PSYCHOLOGY; RETINA;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; BRAIN; CEREBELLUM; CHILD; CHILD, PRESCHOOL; COGNITION; EMOTIONS; EYE ABNORMALITIES; FEMALE; HUMANS; INFANT; INTELLECTUAL DISABILITY; KIDNEY DISEASES, CYSTIC; MAGNETIC RESONANCE IMAGING; MALE; NEUROPSYCHOLOGICAL TESTS; PHENOTYPE; RETINA;

EID: 84995784801     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37938     Document Type: Article

References (40)

1. Achenbach TM. 1991. Manual for the child behavior checklist/4-8 and 1991 profile. Burlington, VT: University of Vermont, Department of Psychiatry.
2. Achenbach TM. 2000. Manual for the child behavior checklist/1.5-5. Burlington, VT: University of Vermont, Department of Psychiatry.
3. Aicardi J, Castello-Branco ME, Roy C. 1983. Joubert's syndrome. Apropos of 5 cases. Le syndrome de Joubert. A propos de cinq observations. Arch Fr De Pediatr 40:625–629.
4. Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi AR, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. 2015. Joubert syndrome: A model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet 52:514–522.
5. Balboni G, Pedrabissi L. 2004. Vineland adaptive behavior scale. Forma completa. Firenze: Organizzazioni Speciali.
6. Boltshauser E, Isler W. 1977. Joubert syndrome: Episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. Neuropadiatrie 8:57–66.
7. Braddock B, Farmer J, Deidrick K, Iverson J, Maria B. 2006. Oromotor and communication findings in joubert syndrome: Further evidence of multisystem apraxia. J Child Neurol 21:160–163.
8. Cantani A, Lucenti P, Ronzani GA, Santoro C. 1990. Joubert syndrome. Review of the fifty-three cases so far published. Ann Genet 33:96–98.
9. Capozzi F, Casini MP, Romani M, De Gennaro L, Nicolais G, Solano L. 2008. Psychiatric comorbidity in learning disorder: Analysis of family variables. Child Psychiatry Hum Dev 39:101–110.
10. Curatolo P, Mercuri S, Cotroneo E. 1980. Joubert syndrome: A case confirmed by computerized tomography. Dev Med Child Neurol 22:362–366.
11. Farmer JE, Deidrick KM, Gitten JC, Fennell EB, Maria BL. 2006. Parenting stress and its relationship to the behavior of children with Joubert syndrome. J Child Neurol 21:163–167.
12. Fennell EB, Gitten JC, Dede DE, Maria BL. 1999. Cognition, behavior, and development in joubert syndrome. J Child Neurol 14:592–596.
13. Frigerio A, Rucci P, Goodman R, Ammaniti M, Carlet O, Cavolina P, De Girolamo G, Lenti C, Lucarelli L, Mani E, Martinuzzi A, Micali N, Milone A, Morosini P, Muratori F, Nardocci F, Pastore V, Polidori G, Tullini A, Vanzin L, Villa L, Walder M, Zuddas A, Molteni M. 2009. Prevalence and correlates of mental disorders among adolescents in Italy: The PrISMA study. Eur Child Adolesc Psychiatry 18:217––226.
14. Gitten J, Dede D, Fennell E, Quisling R, Maria BL. 1998. Neurobehavioral development in joubert syndrome. J Child Neurol 13:391–397.
15. Gritti A, Bravaccio C, Signoriello S, Salerno F, Pisano S, Catone G, Gallo C, Pascotto A. 2014. Epidemiological study on behavioural and emotional problems in developmental age: Prevalence in a sample of Italian children, based on parent and teacher reports. Ital J Pediatr 40:19.
16. Griffiths R. 1996. The Griffiths mental developmental scales from birth—2 years (1996 revision). Firenze: Hogrefe.
17. Griffiths R. 2006. The Griffiths mental developmental scales—Extended revised: 2 to 8 years. Firenze: Hogrefe.
18. Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA. 2009. MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and joubert syndrome. J Pediatr 155:386–392.
19. Hodgkins PR, Harris CM, Shawkat FS, Thompson DA, Chong K, Timms C, Timms C, Russell-Eggiitt I, Taylor DS, Kriss T. 2004. Joubert syndrome: Long-term follow-up. Dev Med Child Neurol 46:694–699.
20. Holroyd S, Reiss AL, Bryan RN. 1991. Autistic features in joubert syndrome: A genetic disorder with agenesis of the cerebellar vermis. Biol Psychiatry 29:287–294.
21. ISTAT (Italy's National Statistics Institute). 1991. Classificazione delle professioni. Metodi e Nome. Serie C Roma: Istituto Poligrafico.
22. Kaufman AS. 1979. Intelligent testing with the WISC-R. New York: Wiley.
23. Kumandas S, Akcakus M, Coskun A, Gumus H. 2004. Joubert syndrome: Review and report of seven new cases. Eur J Neurol 11:505–510.
24. Maria BL, Hoang KBN, Tusa RJ, Mancuso AA, Hamed LM, Quisling RG, Hove MT, Fennell EB, BoothJones M, Ringdahl DM, Yachnis AT, Creel G, Frerking B. 1997. “ Joubert syndrome” revisited: Key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 12:423–430.
25. Masi G, Brovedani P, Mucci M, Favilla L. 2002. Assessment of anxiety and depression in adolescents with mental retardation. Child Psychiatry Hum Dev 32:227–237.
26. Ozonoff S, Williams BJ, Gale S, Miller JN. 1999. Autism and autistic behavior in joubert syndrome. J Child Neurol 14:636–641.
27. Poretti A, Alber FD, Brancati F, Dallapiccola B, Valente EM, Boltshauser E. 2009. Normal cognitive functions in joubert syndrome. Neuropediatrics 40:287–290.
28. Poretti A, Boltshauser E, Valente EM. 2014. The molar tooth sign is pathognomonic for Joubert syndrome! Pediatr Neurol 50:15–16.
29. Roid GH, Miller LJ. 1997. Leiter International performance scale-revised. Wood Dale, IL, USA: Stoelting Co.
30. Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Mate A, Zimmermann A, Gouider-Khouja N, Valente EM. 2014. Mutations in B9D1 and MKS1 cause mild joubert syndrome: Expanding the genetic overlap with the lethal ciliopathy meckel syndrome. Orphanet J Rare Dis 9:72.
31. Romani M, Micalizzi A, Valente EM. 2013. Joubert syndrome: Congenital cerebellar ataxia with the molar tooth. Lancet Neurol 12:894–905.
32. Shevell M, Ashwal S, Donley D, Flint J, Gingold M, Hirtz D, Majnemer A, Noetzel M, Sheth RD. 2003. Practice parameter: Evaluation of the child with global developmental delay—Report of the quality standards subcommittee of the american academy of neurology and the practice committee of the child neurology society. Neurology 60:367–380.
33. Sparrow SS, Balla DA, Dominick V, Cicchetti DV. 1984. The Vineland adaptive behavior scales. Circle Pines, MN: American Guidance Service.
34. Steinlin M, Schmid M, Landau K, Boltshauser E. 1997. Follow-up in children with joubert syndrome. Neuropediatrics 28:204–211.
35. Takahashi TN, Farmer JE, Deidrick KK, Hsu BS, Miles JH, Maria BL. 2005. Joubert syndrome is not a cause of classical autism. Am J Med Genet Part A 132A:347–351.
36. Tavano A, Borgatti R. 2010. Evidence for a link among cognition, language and emotion in cerebellar malformations. Cortex 46:907–918.
37. Wechsler D. 1993. Wechsler intelligence scale for children—Revised (WISC-R). Italian standardisation by Orsina A. Firenze: Organizzazioni Speciali.
38. Wechsler D. 1996. Wechsler preschool and primary scale of intelligence (WPPSI). Italian standardisation by Orsini A and Piccone L. Firenze: Organizzazioni Speciali.
39. Wechsler D. 1997. Wechsler adult intelligence scale-revised (WAIS-R). Italian standardisation by Orsini A, Laicardi C. Firenze: Organizzazioni Speciali.
40. Ziegler AL, Deonna T, Calame A. 1990. Hidden intelligence of a multiply handicapped child with Joubert syndrome. Dev Med Child Neurol 32:261–266.