Phonoaudiological aspects of Saethre-Chotzen syndrome / Aspectos fonoaudiologicos da sindrome de Saethre-Chotzen
AUTOR(ES)
Ana Paula Arduino Meirelles
DATA DE PUBLICAÇÃO
2006
RESUMO
Saethre-Chotzen Syndrome (SCS) is characterized by craniosynostosis and several important facial alterations such as: low hair implantation at the front, asymmetry, maxillary hypoplasia, mandibular prognathism, in addition to small, dysmorphic and low-set ears. Among the ocular alterations are: blepharoptosis, strabismus, epicanthus, lachrymal duct stenosis and visual deficiency secondary to the optical nerve atrophy. The mechanism of transmission is autosomal dominant presenting a high penetrance with variable expressivity. Considering its clinical variability, its diagnosis is not always considered. Therefore, the prevalence is estimated in 1/25.000-1/50.000 born alive. The objective of the present work was to investigate possible phonoaudiological alterations presented in this condition, regarding oral language (speaking), orofacial movement, voice and audition. Ten individuals with SCS were evaluated by means of a standardized phonoaudiological procedure of short duration, including one anamnesis, a clinical examination of main orofacial structures and oral motor functions, perceptive analysis of voice and audiometry and BERA (Brainstem evoked responses audiometry). This investigation was preceded by dysmorphologic, cytogenetic examination and molecular investigation that included: screening for mutations in the exon 1 of the TWIST gene; screening for P250R mutation in the FGFR3 gene and exons 8 and 10 of the FGFR2 gene; screening for P252R mutation of the FGFR1 gene and also an analysis of the described region of the MSX2 gene. In addition, a neuropsychological evaluation by means of the Luria Nebraska Battery (WISC and WAIS) was performed. The results of the study showed that 4/10 presented a certain intellectual impairment, among them 3/10 presented cerebral dysfunction and 2, confirmed neuropsychological deficit. None of the individuals presented chromosomal alterations and only 2/10 presented P250R mutation in the FGFR3 gene. The phonoaudiological evaluation showed 9/10 individuals with intelligible speech, 5/10 with abundant sialorrhea, 6/10 with alterations in the nasal morphology and 6/10 of the hard palate, 6/10 with alterations in the cheek tonus and 6/10 with masticatory alterations. In the vocal analysis, 4/10 presented inexact joint, 3/10 acute Picth, 3/10 disturbed voice quality, 2/10 compromised comprehensive speech, 2/10 abnormal fluency by repetition and prolongation particularly related to resonance, 2/10 presented hypernasality, 1/10 mixed, 1/10 laryngeal, whereas the velocity was reduced in only one individual. Regarding the auditive evaluation, 6/10 presented auditive intensities in accordance with the normality for the age group and in 3/10 were detected BERA alterations. The phonoaudiological alterations detected in this study suggest being part of the clinic spectrum of SCS and should be investigated in all age groups, aiming to allow a precocious intervention when it is necessary
ASSUNTO(S)
phonoaudiology genetica genetics acrocefalossindatilia fonoaudilogia craniossinostose craniosynostosis acrocephalosyndactylia
