RESUMO
PURPOSE: The purpose of this investigation is to describe the communication profile of children with the 22q11.2 deletion syndrome from infancy through school age and to examine the influence of other medical aspects, such as palate anomalies, learning disorders, and cardiac defects of the syndrome to communication. METHODS: Seventy-nine children were examined using standardized tests of speech and language and perceptual measures of resonance and voice. RESULTS: Results show significant delay in emergence of speech and language milestones with delay/disorder in speech-language processes persisting into the school aged years, including those children diagnosed with nonverbal learning disabilities. Persistent articulation and resonance disorders were also present, presumed to be related in part to palatal anomalies. No correlation was found between cardiac status, learning disorders, palate anomalies and communication disorders. CONCLUSION: The need for early identification and management of communication skills is crucial in the care of children with the 22q11.2 deletion.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22 , Transtornos da Linguagem/genética , Distúrbios da Fala/genética , Adolescente , Criança , Pré-Escolar , Cognição , Feminino , Cardiopatias Congênitas/genética , Humanos , Lactente , Masculino , Processos Mentais , Estudos Prospectivos , SíndromeRESUMO
The 22q11.2 microdeletion syndrome is a genetic disorder that is being recognized with increasing frequency. Confirmation of the diagnosis can be made using fluorescence in situ hybridization. Many medical and developmental problems are present in children with this syndrome. Communication disorders are among the most common features of this syndrome and include articulation, language, resonance, and voice problems. The purpose of this paper is to provide a description of the communicative and developmental features in a sample of children with the 22q11.2 microdeletion syndrome seen for evaluation. Because communication and feeding disorders may be presenting features of this syndrome, speech and language pathologists must be familiar with this syndrome and its various characteristics. Awareness of these features and a multidisciplinary approach are necessary for the identification and treatment of the complex communicative and medical problems present in this population.
Assuntos
Aberrações Cromossômicas/genética , Deleção Cromossômica , Cromossomos Humanos Par 22/genética , Transtornos da Comunicação/genética , Adolescente , Criança , Pré-Escolar , Transtornos Cromossômicos , Transtornos de Deglutição/genética , Transtornos da Audição/genética , Humanos , Transtornos da Linguagem/genética , Distúrbios da Fala/genética , Síndrome , Distúrbios da Voz/genéticaRESUMO
OBJECTIVES: To examine the psychoeducational profile associated with the chromosome 22q11.2 microdeletion (DiGeorge/velocardiofacial syndrome). STUDY DESIGN: Thirty-three patients (aged 6 to 27 years) with a 22q11.2 microdeletion underwent psychoeducational testing as part of a comprehensive evaluation. Nonparametric statistics were used to compare verbal and performance IQ, academic achievement scores, and receptive versus expressive language scores. Post hoc comparisons were made of IQ subtest scores and of language versus verbal IQ. RESULTS: Full-scale IQ ranged from the normal to the moderately retarded range. Mean verbal IQ was significantly higher than mean performance IQ. In a similar manner, mean reading and spelling scores were superior to the mean mathematics score, although achievement scores typically were in the range of verbal IQ. In addition, many children showed clinically significant language impairments, with mean language scores lower than mean verbal IQ. CONCLUSIONS: The IQ and academic profiles are reminiscent of a "nonverbal learning disability," although achievement was not discrepant from IQ. The coincidence of language impairment with a relative strength in reading belies a unique neuropsychologic profile. Educational programming for these children must address both verbal and nonverbal deficits.
