RESUMO
BACKGROUND: Williams syndrome (WS) phenotype is described as unique and intriguing. The aim of this study was to investigate the associations between speech-language abilities, general cognitive functioning and behavioural problems in individuals with WS, considering age effects and speech-language characteristics of WS sub-groups. METHODS: The study's participants were 26 individuals with WS and their parents. General cognitive functioning was assessed with the Wechsler Intelligence Scale. Peabody Picture Vocabulary Test, Token Test and the Cookie Theft Picture test were used as speech-language measures. Five speech-language characteristics were evaluated from a 30-min conversation (clichés, echolalia, perseverative speech, exaggerated prosody and monotone intonation). The Child Behaviour Checklist (CBCL 6-18) was used to assess behavioural problems. RESULTS: Higher single-word receptive vocabulary and narrative vocabulary were negatively associated with CBCL T-scores for Social Problems, Aggressive Behaviour and Total Problems. Speech rate was negatively associated with the CBCL Withdrawn/Depressed T-score. Monotone intonation was associated with shy behaviour, as well as exaggerated prosody with talkative behaviour. WS with perseverative speech and exaggerated prosody presented higher scores on Thought Problems. Echolalia was significantly associated with lower Verbal IQ. No significant association was found between IQ and behaviour problems. Age-associated effects were observed only for the Aggressive Behaviour scale. CONCLUSIONS: Associations reported in the present study may represent an insightful background for future predictive studies of speech-language, cognition and behaviour problems in WS.
Assuntos
Comportamento do Adolescente/fisiologia , Comportamento Infantil/fisiologia , Inteligência/fisiologia , Transtornos da Linguagem/fisiopatologia , Comportamento Problema , Síndrome de Williams/fisiopatologia , Adolescente , Criança , Ecolalia/etiologia , Ecolalia/fisiopatologia , Feminino , Humanos , Transtornos da Linguagem/etiologia , Masculino , Síndrome de Williams/complicaçõesRESUMO
Although twin, adoption, and family studies demonstrate that genetic factors are involved in the origins of stuttering, the mode of transmission of the disorder in families is not well defined and stuttering is considered a genetically complex trait. We performed a genome-wide linkage scan in a group of 43 Brazilian families, each containing multiple cases of persistent developmental stuttering. Linkage analysis under a dominant model of inheritance generated significant evidence of linkage in two Brazilian families, with a combined maximum single-point LOD score of 4.02 and a multipoint LOD score of 4.28 on chromosome 10q21. This demonstrated the presence of a novel variant gene at this locus that predisposes individuals to stuttering, which provides an opportunity to identify novel genetic mechanisms that underlie this disorder.
Assuntos
Cromossomos Humanos Par 10 , Ligação Genética , Locos de Características Quantitativas , Gagueira/genética , Brasil , Mapeamento Cromossômico , Feminino , Estudos de Associação Genética , Marcadores Genéticos , Predisposição Genética para Doença , Humanos , Masculino , Repetições de Microssatélites , LinhagemRESUMO
The phenotype of partial trisomy 9p includes global developmental delay, microcephaly, bulbous nose, downturned oral commissures, malformed ears, hypotonia, and severe cognitive and language disorders. We present a case report and a comparative review of clinical findings on this condition, focusing on speech-language development, cognitive abilities and swallowing evaluation. We suggest that oropharyngeal dysphagia should be further investigated, considering that pulmonary and nutritional disorders affect the survival and quality of life of the patient. As far as we know, this is the first study of a patient with partial trisomy 9p described with oropharyngeal dysphagia.
Assuntos
Cromossomos Humanos Par 9/genética , Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/genética , Transtornos da Linguagem/genética , Trissomia , Transtornos de Deglutição/terapia , Saúde da Família , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Cariotipagem , Masculino , Linhagem , FenótipoRESUMO
Speech/language disorders are common in the fragile X syndrome. [Howard-Peebles, 1979: Am J Hom Genet 31:214-222; Renier et al., 1983: J Ment Defic Res 27:51-59; Sparks, 1984: Birth Defects and Speech-Language Disorders, pp. 39-43; Hanson et al., 1986: Am J Med Genet 23:195-206]. Verbal paraphasias have been considered a rare feature and word-finding difficulties have seldom been reported. Here we report on ten Brazilian patients who were evaluated for speech/language disturbances and found that word-finding difficulties were present in 50% of the cases, which is a slightly higher frequency than that of clear dyspraxia. We suggest, therefore, that word-finding difficulties and verbal dyspraxia can be a common feature within the spectrum of this syndrome. Additional speech findings are discussed.