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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2017; 75(12): 862-868
DOI: 10.1590/0004-282X20170171
Article

Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system

Craniossinostoses sindrçmicas: habilidades neuropsicolinguísticas e análise por imagem do sistema nervoso central
Luciana Paula Maximino
1   Universidade de São Paulo, Faculdade de Odontologia de Bauru, Departamento de Fonoaudiologia e Audiologia, Bauru SP, Brasil
2   Universidade de São Paulo, Hospital para Reabilitação para Anomalias Craniofaciais, Bauru SP, Brasil
,
Luis Gustavo Ducati
4   Universidade Estadual Paulista, Faculdade de Medicina de Botucatu, Departamento de Neurologia, Psicologia e Psiquiatria, Botucatu SP, Brasil
,
Dagma Venturini Marques Abramides
1   Universidade de São Paulo, Faculdade de Odontologia de Bauru, Departamento de Fonoaudiologia e Audiologia, Bauru SP, Brasil
,
Camila de Castro Corrêa
3   Universidade Estadual Paulista, Faculdade de Medicina de Botucatu, Departamento de Oftalmotogia, Otorrinilaringologia e Cirurgia de Cabeça e Pescoço, Botucatu SP, Brasil
,
Patrícia Fernandes Garcia
1   Universidade de São Paulo, Faculdade de Odontologia de Bauru, Departamento de Fonoaudiologia e Audiologia, Bauru SP, Brasil
,
Adriano Yacubian Fernandes
1   Universidade de São Paulo, Faculdade de Odontologia de Bauru, Departamento de Fonoaudiologia e Audiologia, Bauru SP, Brasil
4   Universidade Estadual Paulista, Faculdade de Medicina de Botucatu, Departamento de Neurologia, Psicologia e Psiquiatria, Botucatu SP, Brasil
› Author AffiliationsFAPESP2000/080803 and CNPQ 307043/2008-8
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ABSTRACT

Objective: To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities.

Methods: Eighteen patients with a diagnosis of syndromic craniosynostosis were studied. Eight patients had Apert syndrome and 10 had Crouzon syndrome. They were submitted to phonological evaluation, neuropsychological evaluation and magnetic resonance imaging of the brain. The phonological evaluation was done by behavioral observation of the language, the Peabody test, Token test and a school achievement test. The neuropsychological evaluation included the WISC III and WAIS tests.

Results: Abnormalities in language abilities were observed and the school achievement test showed abnormalities in 66.67% of the patients. A normal intelligence quotient was observed in 39.3% of the patients, and congenital abnormalities of the central nervous system were observed in 46.4% of the patients.

Conclusion: Abnormalities of language abilities were observed in the majority of patients with syndromic craniosynostosis, and low cognitive performance was also observed.

RESUMO

Objetivo: Caracterizar as habilidades neuropsicolinguísticas de indivíduos com craniossinostoses sindrçmicas e apresentar esses achados com as anomalias do sistema nervoso central.

Métodos: Participaram do estudo 18 sujeitos com diagnóstico clínico de craniossinostose sindrçmica, 44,4% com a síndrome de Apert e 55,6% síndrome de Crouzon. Todos os sujeitos foram submetidos a avaliação fonoaudiológica, psicológica e exames de ressonância magnética do encéfalo. A avaliação fonoaudiológica foi contemplada pela Observação Comportamental da Linguagem, Teste Peabody (TVIP), Teste Token e Teste de Desempenho Escolar (TDE); enquanto a psicológica utilizou a WISC-III e a WAIS.

Resultados: Observou-se alteração nas habilidades de linguagem em todos os protocolos utilizados, sendo o TDE o que apresentou maior porcentagem de alteração (66,67%).A avaliação cognitiva evidenciou quociente de inteligência dentro da média em 39,3% dos sujeitos, enquanto que 46,4% apresentaram malformações congênitas do sistema nervoso central.

Conclusão: Constatou-se alterações nas habilidades de linguagem na maioria dos sujeitos com craniossinostoses sindrçmicas, bem como o baixo desempenho cognitivo.

Keywords:

acrocephalosyndactylia - craniofacial dysostosis - central nervous system - neuropsychology - language

Palavras-chave:

acrocefalossindactilia - disostose craniofacial - sistema nervoso central - neuropsicologia - linguagem

Support:

FAPESP2000/080803 and CNPQ 307043/2008-8.




Publication History

Received: 05 August 2016

Accepted: 13 September 2017

Article published online:
01 September 2023

© 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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  • References

  • 1 Senarath-Yapa K, Chung MT, McArdle A, Wong VW, Quarto N, Longaker MT et al. Craniosynostosis: molecular pathways and future pharmacologic therapy. Organogenesis. 2012;8(4):103-13. https://doi.org/10.4161/org.23307
  • 2 Panigrahi I. Craniosynostosis genetics: the mystery unfolds. Indian J Hum Genet. 2011;17(2):48-53. https://doi.org/10.4103/0971-6866.86171
  • 3 Mantilla-Capacho JM, Arnaud L, Díaz-Rodriguez M, Barros-Nuñez P. Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. Genet Couns. 2005;16(4):403-6.
  • 4 Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L et al. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet. 2000;66(3):768-77. https://doi.org/10.1086/302831
  • 5 Jong T, Rijken BF, Lequin MH, Veelen ML, Mathijssen IM. Brain and ventricular volume in patients with syndromic and complex craniosynostosis. Childs Nerv Syst. 2012;28(1):137-40. https://doi.org/10.1007/s00381-011-1614-7
  • 6 Khanna PC, Thapa MM, Iyer RS, Prasad SS. Pictorial essay: the many faces of craniosynostosis. Indian J Radiol Imaging. 2011;21(1):49-56. https://doi.org/10.4103/0971-3026.76055
  • 7 Marucci DD, Dunaway DJ, Jones BM, Hayward RD. Raised intracranial pressure in Apert syndrome. Plast Reconstr Surg. 2008;122(4):1162-8. https://doi.org/10.1097/PRS.0b013e31818458f0
  • 8 Flapper WJ, Anderson PJ, Roberts RM, David DJ. Intellectual outcomes following protocol management in Crouzon, Pfeiffer, and Muenke syndromes. J Craniofac Surg. 2009;20(4):1252-5. https://doi.org/10.1097/SCS.0b013e3181acdf9a
  • 9 Lamçnica DA, Maximino LP, Feniman MR, Silva GK, Zanchetta S, Abramides DV et al. Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family. Cleft Palate Craniofac J. 2010;47(5):548-52. https://doi.org/10.1597/08-251.1
  • 10 Agochukwu NB, Solomon BD, Muenke M. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv Syst. 2012;28(9):1447-63. https://doi.org/10.1007/s00381-012-1756-2
  • 11 Arduino-Meirelles AP, Lacerda CBF, Gil-da-Silva-Lopes VL. Developmental aspects of oral language in craniosynostosis. Pro Fono. 2006;18(2):213-20. https://doi.org/10.1590/S0104-56872006000200011
  • 12 American Speech-Language-Hearing Association. Spoken language disorders. 2016 (cited 2017 Apr 6). Available from: http://www.asha.org/Practice-Portal/Clinical-Topics/Spoken-Language-Disorders/
  • 13 National Joint Committee for Learning Disabilities. Learning disabilities: an overview. 2008 (cited 2017 Apr 6). Avaliable from: http://www.ldonline.org/article/Learning_Disabilities%3A_An_Overview
  • 14 Godoy JF, Spinardi ACP, Ducati LG, Abramides DVM, Feniman MR, Yacubian-Fernandes A et al. Achados neuropsicolinguísticos na síndrome de Crouzon: relato de caso. Rev Soc Bras Fonoaudiol. 2010;15(4):594-7. https://doi.org/10.1590/S1516-80342010000400020
  • 15 Graciano MIG, Lehfeld NAS, Neves Filho A. Critérios de avaliação para a classificação sócio-econçmica: elementos de atualização. Serv Social Realidade. 1999;8(1):109-28.
  • 16 Martínez Fernández A, Alañón Fernández MA, Ayala Martínez LF, Alvarez Alvarez AB, Miranda León MT, Sainz Quevedo M. [Comparative study between auditory steady-state responses, auditory brain-stem responses and liminar tonal audiometry]. Acta Otorrinolaringol Esp. 2007;58(7):290-5. Spanish. https://doi.org/10.1016/S2173-5735(07)70353-8
  • 17 Jerger J. Clinical experience with impedance audiometry. Arch Otolaryngol. 1970;92(4):311-24. https://doi.org/10.1001/archotol.1970.04310040005002
  • 18 Hage SRV, Pereira TC, Zorzi JL. [Behavioral Observation Protocol: reference values for a quantitative analysis]. Rev CEFAC. 2012;14(4):677-90. Portuguese. https://doi.org/10.1590/S1516-18462012005000068
  • 19 Weiss AL, Tomblin JB, Robin DA. Language disorders. In: Tomblin JB, Morris HL, Spriestersbach DC. Diagnosis in speech-language pathology. 2nd ed. San Diego: Singular; 2000. paginação
  • 20 Dunn LM, Padilla ER, Lugo DE, Dunn LM. Teste de vocabulário por imagens Peabody. Circle Pines: American Guidance Service, 1986.
  • 21 Stein LM. Teste de desempenho escolar: manual para aplicação e interpretação. São Paulo: Casa do Psicólogo; 1994.
  • 22 De Renzi E, Faglioni P. Normative data and screening power of a shortened version of the Token Test. Cortex. 1978;14(1):41-9. https://doi.org/10.1016/S0010-9452(78)80006-9
  • 23 Wechsler D. WISC-III - Escala de Inteligência Wechsler para crianças: manual. 3aed. São Paulo: Casa do Psicólogo; 2002.
  • 24 Wechsler D. WAIS-III Escala de Inteligência Wechsler para adultos: manual. 3a ed. São Paulo: Casa do Psicólogo; 2004.
  • 25 Terman LM, Merril MA. Medida de la inteligencia. Madrid: Espasa Calpe; 1979.
  • 26 World Health Organization - WHO. The ICD-10 classification of mental and behavioral disorders: clinical descriptors and diagnostic guidelines. Geneva: World Health Organization; 1992.
  • 27 Yacubian-Fernandes A, Palhares A, Giglio A, Gabarra RC, Zanini S, Portela L et al. Apert syndrome: factors involved in the cognitive development. Arq Neuropsiquiatr. 2005;63(4):963-8. https://doi.org/10.1590/S0004-282X2005000600011
  • 28 Da Costa AC, Savarirayan R, Wrennall JA, Walters I, Gardiner N, Tucker A et al. Neuropsychological diversity in Apert syndrome: a comparision of cognitive profiles. Ann Plast Surg. 2005;54(4):450-5. https://doi.org/10.1097/01.sap.0000149387.95212.df
  • 29 Yacubian-Fernandes A, Palhares A, Giglio A, Gabarra RC, Zanini S, Portela L et al. Apert syndrome: analysis of associated brain malformations and conformational changes determined by surgical treatment. J Neuroradiol. 2004;31(2):116-22. https://doi.org/10.1016/S0150-9861(04)96978-7
  • 30 Yacubian-Fernandes A, Ducati LG, Silva MV, Abramides DVM, Perosa GB, Palhares A et al. [Crouzon syndrome: factors related to the neuropsychological development and to the quality of life]. Arq Neuropsiquiatr. 2007;65(2B):467-71. Portuguese. https://doi.org/10.1590/S0004-282X2007000300020
  • 31 Ducati LG. {Evaluation of factors related to neuropsychological development and language acquisition in patients with Crouzon syndrome]. [dissertação]. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais; 2008. Portuguese.
  • 32 Misquiatti ARN. Avaliação de linguagem em indivíduos com síndrome de Apert, Crouzon e Pfeiffer [dissertação]. São Paulo: Pontifícia Universidade Católica de São Paulo; 1996.
  • 33 Elfenbein JL, Waziri M, Morris HL. Verbal communication skills of children with craniofacial anomalies. Cleft Palate J. 1981;18(1):59-64.
  • 34 Shipster C, Hearst D, Dockrell JE, Kilby E, Hayward R. Speech and language skills and cognitive functioning in children with Apert syndrome: a pilot study. Int J Lang Commun Disord. 2002;37(3):325-43. https://doi.org/10.1080/13682820210138816
  • 35 Garcia PF. [Language profile characterization of individuals with Apert syndrome]. [dissertation]. Bauru: Universidade de São Paulo; 2010.