Cri du Chat syndrome: Characteristics of 73 Brazilian patients.

BACKGROUND: Cri du Chat syndrome (CdCS) is a genetic syndrome caused by deletions in the short arm of chromosome 5. Although the main clinical features of CdCS are well known, the neurocognitive and behavioural characteristics of the phenotype are rarely described in detail in the literature. In this study, we analysed the main phenotypic features of CdCS from a parental perspective. METHOD: A questionnaire was sent to 700 Brazilian families that were registered in the Brazilian Association of CdCS. The questions involved specific domains of CdCS, such as pregnancy and birth conditions, recurrence of the disease in the family, current major health problems, and aspects of cognitive development. RESULTS: In total, 73 questionnaires were completed: 44 females and 29 males, ranging from 9.5 months old to 40 years old (mean = 13.8 years; median = 12 years). Most of the parents noticed the typical cat-like cry at birth (94.4%). The age at diagnosis of CdCS ranged from the time of birth to 180 months (mean = 14 months; median = 6 months), while one case was diagnosed during pregnancy. In all of the cases, the diagnosis of CdCS was made by G-banding karyotype analysis. In 66.2% of the cases, the parents underwent cytogenetic investigation. A total of 52.1% of the parents answered that they did not remember what the recurrence risk of CdCS was in their family. The main health problems that were reported were as follows: swallowing problems (80.3%), feeding problems (80.3%), congenital heart disease (31.5%), spine abnormalities (28.8%), and neurological symptoms (20.5%), including seizures (11%). The behavioural problems that were reported were as follows: aggressive behaviour, stereotypies, anxiety, phobias, and genital manipulation/masturbation. Neurodevelopmental delay was reported in all of the cases. Independent walking was achieved in 72.2% of the patients. Approximately 50% of the patients never presented expressive language, and most of the patients are dependent on others for their daily activities. CONCLUSIONS: The questionnaire was a pioneer initiative in the CdCS support group, and the answers used in this study can improve the health care assistance to these patients because they focus attention on the demands from a parental perspective. In addition, nearly half of the families stated that they did not remember information regarding recurrence risk, which reinforces the importance of genetic counselling follow-up and the need for the expansion of genetic services in Brazil.

Efficacy of auditory training using the auditory brainstem response to complex sounds: auditory processing disorder and specific language impairment.

OBJECTIVES: This study verified the efficacy of a formal auditory training (AT) program in children with hearing and language disorders using the auditory brainstem response to complex sounds (c-ABR) with and without background noise. PATIENTS AND METHODS: Thirty children (7-13 years) were distributed into four groups: typical development (TD: n = 7), auditory processing disorder (APD: n = 9) and specific language disorder (SLIa: n = 6, and SLIb: n = 8). All children underwent behavioral assessment of auditory processing and c-ABR with and without background noise. The APD and SLIa groups underwent 8 weeks of formal AT, but all children were reevaluated 12 weeks after the initial assessment. RESULTS: The TD group presented better behavioral performance than the other groups. For c-ABR in silence, no significant differences were observed among groups or assessments, except regarding VA complex measures, which were altered in the APD group. For c-ABR with background noise, however, the APD, SLIa and SLIb groups presented delayed latencies. Groups that underwent formal AT improved behavioral performance and decreased latencies to c-ABR in background noise at final assessment. CONCLUSIONS: These data suggest that efficacy of formal AT can be demonstrated by c-ABR with background noise.

Relação entre as habilidades fonológicas e pragmáticas nos distúrbios específicos de linguagem / Relation between phonologic and pragmatic habilities in specific language impairment

BACKGROUND: Specific language impairment. AIM: To establish relations between the performance of subjects in phonologic and pragmatic tests. METHOD: Tabulation and analyses of the data of phonologic and pragmatic tests of 20 children with ages raging from 3:0 to 5:11 years, with the diagnoses of Specific Language Impairment (SLI). RESULTS: The statistic analyses showed good correlations between developmental processes (DP) and non-developmental processes (NDP), DP and the use of verbal mean, vocal mean and number of communication acts per minute. CONCLUSION: The performance in the phonological and pragmatic tests does not seem to have a direct correlation in subjects with specific language impairment.

Tema: distúrbios específicos de linguagem. Objetivo: estabelecer relações a partir do desempenho dos sujeitos nas provas de pragmática e fonologia. Método: tabulação eanálise dos dados das provas de fonologia e pragmática de 20 crianças, com idade entre 3:00 e 5:11 anos, com diagnóstico de Distúrbio Especifico de Linguagem (DEL). Resultados:a análise estatística mostrou correlações boas e regulares entre processos de desenvolvimento (PD) e processos de não desenvolvimento (PnD), PD e meio verbal, meiovocal e atos por minuto. Conclusão: o desempenho nas provas de fonologia e pragmática parece não apresentar correlação estritamente direta nos sujeitos com DEL.