[The language of children and young people with 22q11 deletion syndrome]. / Lenguaje de niños y jóvenes con síndrome de deleción 22q11.

INTRODUCTION: The 22q11 deletion syndrome (S22q11) is one of the most prevalent genetic disorders, resulting in multiple systemic and neuropsychological features. AIM: To describe the language profile in a sample of Spanish subjects with S22q11. PATIENTS AND METHODS: A sample of 30 Spanish participants with S22q11 aged between 5 years and 21 years and 11 months (mean: 12.14 ± 4.20 years) was evaluated using standardized tests and a questionnaire administered to parents. RESULTS: Almost half of the subjects obtained better results in expressive language than in comprehensive language and the majority obtained a higher score in language content than in language memory. The results suggest that people with S22q11 present language difficulties that improve with age to a certain level and subsequently stabilize. A specific profile is observed that suggests that pragmatic difficulties are a consequence of this language profile and not only of social difficulties already described in this pathology. CONCLUSIONS: In the sample of the present study, children and young people with S22q11 present specific language and pragmatic disorders. More than half of the study participants did not obtain significant differences between the level of expressive and receptive language. Most presented semantic fluency difficulties. The type and degree of impairment in pragmatic skills suggest that the basic problem may be related to their language difficulties.

TITLE: Lenguaje de niños y jóvenes con síndrome de deleción 22q11.Introducción. El síndrome de deleción 22q11 (S22q11) es uno de los trastornos genéticos más prevalentes, y presenta múltiples alteraciones sistémicas y neuropsicológicas. Objetivo. Describir el perfil de lenguaje y pragmática asociado a este síndrome. Pacientes y métodos. Se evaluó una muestra de 30 participantes españoles con S22q11 de edades comprendidas entre 5 años, y 21 años y 11 meses (media: 12,14 ± 4,2 años) mediante pruebas estandarizadas y un cuestionario administrado a los padres. Resultados. Casi la mitad de la muestra obtuvo mejores resultados en el lenguaje expresivo que en el comprensivo, y la mayoría logró una mayor puntuación en el contenido del lenguaje que en la memoria del lenguaje. Los resultados sugieren que las personas con S22q11 presentan dificultades de lenguaje que mejoran con la edad hasta cierto nivel y, posteriormente, se estabilizan. Se observa un perfil específico que sugiere que las dificultades pragmáticas son consecuencia de este perfil de lenguaje y no sólo de dificultades sociales ya descritas en esta patología. Conclusiones. En la muestra del presente estudio, los niños y jóvenes con S22q11 presentan alteraciones específicas del lenguaje y la pragmática. Más de la mitad de los participantes del estudio no obtuvieron diferencias significativas entre el nivel de lenguaje expresivo y el receptivo. La mayoría presentó dificultades de fluencia semántica. El tipo y el grado de las alteraciones que presentan en las habilidades pragmáticas sugieren que el problema básico podría estar relacionado con sus dificultades lingüísticas.

Assessment of cognition and language in the early diagnosis of autism spectrum disorder: usefulness of the Bayley Scales of infant and toddler development, third edition.

BACKGROUND: The aim of this study was to test the usefulness of the Cognitive and Language scales Bayley-III in the early assessment of cognitive and language functions in the context of an autism spectrum disorder (ASD) diagnosis. This paper focuses on the application of the Bayley-III and studies the predictive value of the test result in children with ASD with different levels of verbal ability. METHOD: A sample of 135 children (121 boys, 14 girls) with a confirmed ASD diagnosis at age 4 years were assessed with the Bayley-III before 42 months of age (m = 36.49, s = 4.46) and later with other rating scales of different psychological and psycholinguistic functions as part of a longitudinal study [McCarthy Scales of Children's Abilities (MSCA) (n = 48, 90% boys), Kaufman Assessment Battery for Children (K-ABC) (n = 38, 87% boys) or Illinois Test of Psycholinguistic Abilities (ITPA) (n = 44, 89% boys)]. Age assessment in months: MSCA (m = 48.80, s = 3.33), K-ABC (m = 51.80, s = 7.17) and ITPA (m = 54.48, s = 3.34). RESULTS: Lower scores on the cognitive and language Bayley-III scales before 3.5 years of age predicted lower cognitive and oral language levels at 4 years of age. A significant correlation was found between the Cognitive Bayley-III Scale and the General Cognitive MSCA Scale, and with the Compound K-ABC Mental Processing. An association between the nonverbal cognitive level and oral language level acquired at 4 years of age was found. CONCLUSIONS: The Bayley-III is a useful instrument in cognitive and language assessment of ASD.

Behavioral gender differences in the neonatal period according to the Brazelton scale.

The aim of the present study was to analyze gender differences in neonatal behavior. A sample of 188 healthy full-term newborns (88 boys and 100 girls) was assessed. The behavioral evaluations were performed using the Brazelton Neonatal Behavioral Assessment Scale (NBAS), when the infants were between 48 and 80 hours old. Girls had higher scores than boys in 4 out of the 34 behavioral items of the NBAS. These are the following: Orientation Animate Auditory (t=2.486; P=0.014), Alertness (t=2.546; P=0.012), Quality of Alertness (t=3.091; P=0.002), and State Regulation (t=2,343; P=0.020). Boys had higher scores in the Irritability item (t=-2.186; P=0.030). We have analyzed also the possible effects of the medication during delivery because mothers of boys were more likely to have used this medication but no differences have been found among the mentioned items. These results appear to confirm that similarities between boys and girls are much more the norm than differences related to gender, but even though they are quite subtle, differences do exist in the way newborn infants react and behave in the neonatal period.