RESUMEN
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.
Asunto(s)
Acrocefalosindactilia/fisiopatología , Disostosis Craneofacial/fisiopatología , Desarrollo del Lenguaje , Acrocefalosindactilia/complicaciones , Acrocefalosindactilia/diagnóstico por imagen , Adolescente , Adulto , Niño , Preescolar , Disostosis Craneofacial/complicaciones , Disostosis Craneofacial/diagnóstico por imagen , Femenino , Humanos , Pruebas del Lenguaje , Masculino , Pruebas Neuropsicológicas , Adulto JovenRESUMEN
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 sindrômicas e apresentar esses achados com as anomalias do sistema nervoso central. Métodos: Participaram do estudo 18 sujeitos com diagnóstico clínico de craniossinostose sindrômica, 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 sindrômicas, bem como o baixo desempenho cognitivo.
Asunto(s)
Humanos , Masculino , Femenino , Preescolar , Niño , Adolescente , Adulto , Adulto Joven , Acrocefalosindactilia/fisiopatología , Disostosis Craneofacial/fisiopatología , Desarrollo del Lenguaje , Acrocefalosindactilia/complicaciones , Acrocefalosindactilia/diagnóstico por imagen , Disostosis Craneofacial/complicaciones , Disostosis Craneofacial/diagnóstico por imagen , Pruebas del Lenguaje , Pruebas NeuropsicológicasRESUMEN
PURPOSE: Premature closure of the spheno-occipital synchondrosis (SOS) has been associated with midface hypoplasia in animal models and patients with specific forms of syndromic craniosynostosis. The present study aimed to characterize SOS fusion in patients with Crouzon syndrome. PATIENTS AND METHODS: A case-control study was performed in patients with Crouzon syndrome treated at the Children's Hospital of Philadelphia from 1984 to 2012. The cases included patients with Crouzon syndrome and at least 1 high-quality computed tomography (CT) scan in which SOS patency could be assessed. Age- and gender-matched control CT scans were identified for comparison. The patient age at the CT scan was evaluated as the predictor, with SOS patency identified as the outcome variable. Three independent reviewers with high inter-rater reliability graded the SOS patency as open, partially fused, or completely fused. The Wilcoxon rank sum test was used to compare the Crouzon group and the controls. RESULTS: During the study period, 30 patients were identified with Crouzon syndrome. A total of 24 patients, all with midface hypoplasia and with 112 cranial CT scans, met the inclusion criteria. Accordingly, 112 age- and gender-matched control CT scans were assessed. No patient in the control group had midface hypoplasia. Within the Crouzon group, the average age at complete closure (14.0 ± 3.4 years) evident on the CT scan was significantly younger than that in the control group (16.6 ± 2.2 years; P = .0152). The average age when the scans showed complete patency of the SOS in the Crouzon group (1.3 ± 1.1 years) was significantly younger than that in the control group (3.2 ± 2.3 years; P = .0001). CONCLUSIONS: The SOS closes significantly earlier in patients with Crouzon syndrome compared with age- and gender-matched controls. The strong statistical correlation supports premature closure of the SOS as a possible mechanistic contributor to midface hypoplasia.
Asunto(s)
Suturas Craneales/anomalías , Disostosis Craneofacial/diagnóstico por imagen , Huesos Faciales/anomalías , Hueso Occipital/anomalías , Hueso Esfenoides/anomalías , Adolescente , Factores de Edad , Calcificación Fisiológica/fisiología , Estudios de Casos y Controles , Niño , Preescolar , Suturas Craneales/diagnóstico por imagen , Suturas Craneales/crecimiento & desarrollo , Disostosis Craneofacial/fisiopatología , Huesos Faciales/diagnóstico por imagen , Huesos Faciales/crecimiento & desarrollo , Femenino , Humanos , Lactante , Masculino , Hueso Occipital/diagnóstico por imagen , Hueso Occipital/crecimiento & desarrollo , Hueso Esfenoides/diagnóstico por imagen , Hueso Esfenoides/crecimiento & desarrollo , Tomografía Computarizada por Rayos X/métodos , Adulto JovenRESUMEN
BACKGROUND: Crouzon and Apert syndromes are the most common syndromic forms of craniofacial dysostosis. Apert syndrome has a broad clinical spectrum, including complex craniofacial involvement, as well as limiting deformities of the hands, feet, and other joints that require multiple surgical procedures when compared with Crouzon syndrome, which is generally less severe. The authors hypothesized that the quality of life of Apert syndrome patients is inferior to that of Crouzon syndrome patients. METHODS: The quality of life of Apert (n = 8) and Crouzon (n = 12) syndrome patients was assessed using the World Health Organization Quality of Life-100 questionnaire. The Mann-Whitney test was used to compare the quality-of-life scores between Apert and Crouzon patients. Values were considered significant for a confidence interval of 95 percent (p < 0.05). RESULTS: Apert patients showed an overall higher (score > 60 percent) quality of life in most World Health Organization Quality of Life-100 facets (68 percent) and domains (83.33 percent), with significance (p < 0.05) in three facets (energy and fatigue, mobility, and environment in the home), compared with Crouzon patients. CONCLUSION: Contrary to the authors' initial hypothesis, both the highest-functioning Apert patients and the Crouzon patients presented a satisfactory quality of life, demonstrating that these syndromic patients had acquired the necessary repertoire to manage the adverse daily situations of their lives.
Asunto(s)
Acrocefalosindactilia , Disostosis Craneofacial , Autoevaluación Diagnóstica , Calidad de Vida , Acrocefalosindactilia/diagnóstico , Acrocefalosindactilia/fisiopatología , Adolescente , Adulto , Niño , Disostosis Craneofacial/diagnóstico , Disostosis Craneofacial/fisiopatología , Femenino , Humanos , Masculino , Fenotipo , Estudios Retrospectivos , Adulto JovenRESUMEN
Se presenta el caso de un recién nacido masculino con síndrome de cráneo en hoja de trébol. Descripción de un caso. Se trató de un neonato masculino de término, de 4,000 g de peso, a quien se catalogó como portador del síndrome en cuestión. Sus anomalías fueron: cráneo trilobulado, hidrocefalia, protrusión ocular, encía trilobulada, pabellones auriculares bajos y lateralizados, cuello corto, miembros superiores con anquilosis bilateral del codo, sindactilia en ambas manos, implantación baja del pulgar; miembros inferiores con anquilosis bilateral de rodilla, dedos de los pies sobrepuestos y primer dedo deforme; genitales externos con hipospadias peneano, escroto bífido conteniendo ambos testículos. La radiografía lateral de cuello reveló fusión de cuerpos vertebralesde C4 a C7. Las radiografías de miembros inferiores mostraron incurvamiento de fémur, tibia y peroné, así como acortamiento importante de los mismos. La radiografía de cráneo demostró ausencia de porciones escamosas de los huesos craneales, órbitas y arcos cigomáticos. Discusión. Se analizan los reportes publicados y se comparan con los datos encontrados en el caso