Perfil neuropsicológico e comportamental, indicadores de desenvolvimento e funcionamento adaptativo de crianças com síndrome de Williams em idade pré-escolar

Abstract

Williams Syndrome (WS) is a genetically caused multisemic neurobehavioral disorder. Its etiology is associated with microdeletions in the chromosomal region 7q11.23. Studies indicate clinical, cognitive, language and behavioral phenotypic alterations in WS which require early investigation for treatment and prevention of physical and mental health problems. Moreover, planned of interventions at the first 6 months of age enhance the development of cognitive skills and behavioral repertoire adapted to further educational demands. The main objective of the present study is to identify indicators of cognitive development, receptive language skills and adaptive behavioral patterns in preschoolers with WS. The sample was composed of 8 children with molecular and clinic diagnosis for WS aged between 4 and 6 years old of both sexes. Data collection instruments were: - Denver Developmental Screening Test II; - COLUMBIA Mental Maturity Scale; - Stroop Test; - Peabody Picture Vocabulary Test (PPVT); - Vineland Adaptive Behavior Scales; - Child Behavior Checklist for Ages 1 1/2-5 (CBCL/1½-5) and Child Behavior Checklist for Ages 6 to 18 (CBCL/6-18); - Brazilian version of Behavior Problems Inventory (BPI-01). The main results indicate development and mental maturity delays in all participants. Major developmental impairments are associated with fine motor skills and personal care abilities. As for receptive language and communication skills, fewer deficits were found according to PPVT and Denver II, respectively. PPVT results indicate that five children there is no discrepancy between chronological and mental ages estimated for these skills. According to the report of caretakers, participants present behavioral and emotional problems within the spectrum of behavioral stereotypies, internalization behavioral problems (anxiety and depression) and attention problems. Indicators of inhibition control skills checked by Stroop Test show that, at the interference task, participants achieved lower scores. This fact points to impairments on this indicator of executive functions. Such findings are a breakthrough in the field of behavioral and neuropsychological assessment of children with WS in Brazil. Results related to cognitive and behavioral skills were similar to those from other studies with school-aged children with WS. Results provide evidence of impairments in children from five to six years old. In the correlation analysis by using the Spearman correlation coefficient were observed positive and negative correlations between the instruments for p <0.05.Though restricted due to the small sample, the outcome allows the recommendation of specific early intervention programs focused on the stimulation of executive functioning skills, enlargement of socially adapted behavioral repertoire and stimulation of other cognitive skills such as memory, language and attention.