RESUMO
As part of multidisciplinary surveys of three Behavioural Phenotype Conditions (BPCs); Möbius sequence (Möbius), CHARGE syndrome (CHARGE) and oculo-auriculo-vertebral spectrum (OAV), autism spectrum conditions (ASCs) was diagnosed in 45%, 68% and 42% of the individuals, respectively. Diagnostic difficulties due to additional dysfunctions such as mental retardation (MR), impaired vision, reduced hearing and cranial nerve dysfunction, were experienced in all three BPC groups. The applicability of current autism diagnostic instruments, such as the Autism Diagnostic Interview-Revised (ADI-R), the Childhood Autism Rating Scale (CARS) and the Autistic Behaviour Checklist (ABC), in individuals with ASCs and Möbius/CHARGE/OAV was analysed. Use of an extensive battery of diagnostic instruments, including both observational schedules and parent interviews, and, if possible, independent judgements from two clinicians, is essential in the diagnostics of ASCs in these individuals. Further, in individuals who are deaf and blind the applicability of current autism diagnostic instruments is highly questionable.
Assuntos
Anormalidades Múltiplas/diagnóstico , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Deficiências do Desenvolvimento/diagnóstico , Síndrome de Goldenhar/diagnóstico , Síndrome de Möbius/diagnóstico , Anormalidades Múltiplas/classificação , Anormalidades Múltiplas/psicologia , Cegueira/diagnóstico , Cegueira/psicologia , Encéfalo/patologia , Transtornos Globais do Desenvolvimento Infantil/classificação , Pré-Escolar , Atresia das Cóanas/classificação , Atresia das Cóanas/diagnóstico , Atresia das Cóanas/psicologia , Coloboma/classificação , Coloboma/diagnóstico , Coloboma/psicologia , Surdez/diagnóstico , Surdez/psicologia , Deficiências do Desenvolvimento/classificação , Deficiências do Desenvolvimento/psicologia , Manual Diagnóstico e Estatístico de Transtornos Mentais , Avaliação da Deficiência , Feminino , Síndrome de Goldenhar/classificação , Síndrome de Goldenhar/psicologia , Cardiopatias Congênitas/classificação , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/psicologia , Humanos , Lactente , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/psicologia , Entrevista Psicológica , Imageamento por Ressonância Magnética , Masculino , Síndrome de Möbius/classificação , Síndrome de Möbius/psicologia , Testes Neuropsicológicos , Suécia , SíndromeRESUMO
The anatomic classification of choanal atresia is commonly quoted as 90% bony and 10% membranous. This incidence is from a review by Fraser in 1910 of 115 cases, "many of which were insufficiently described." We have reviewed 47 computed tomography scans of choanal atresia from the literature and 16 from our clinical experience, and classified the anatomy as bony, mixed bony-membranous, or pure membranous. Our results reveal a combined incidence of 18 (29%) pure bony, 45 (71%) mixed bony-membranous, and no pure membranous atresia. We propose a new classification of choanal atresia to include bony, mixed, and membranous to accurately reflect the anatomic abnormalities. Our series of 11 patients undergoing transnasal microsurgical repair, a critical review of the literature, and the implications of the anatomic classification on the choice of surgical procedure are presented.
