Department of Speech-Language Pathology and Audiology, Bauru School of Dentistry, University of São Paulo, Bauru, SP, Brazil.
J Appl Oral Sci. 2009;17 Suppl(spe):69-75. doi: 10.1590/s1678-77572009000700012.
The Neonatal Screening for Inborn Errors of Metabolism of the Association of Parents and Friends of Special Needs Individuals (APAE) - Bauru, Brazil, was implanted and accredited by the Brazilian Ministry of Health in 1998. It covers about 286 cities of the Bauru region and 420 collection spots. Their activities include screening, diagnosis, treatment and assistance to congenital hypothyroidism (CH) and phenylketonuria (PKU), among others. In 2005, a partnership was established with the Department of Speech-Language Pathology and Audiology, Bauru School of Dentistry, University of São Paulo, Bauru, seeking to characterize and to follow, by means of research studies, the development of the communicative abilities of children with CH and PKU.
The aim of this study was to describe communicative and psycholinguistic abilities in children with CH and PKU.
Sixty-eight children (25 children aged 1 to 120 months with PKU and 43 children aged 1 to 60 months with CH) participated in the study. The handbooks were analyzed and different instruments were applied (Observation of Communication Behavior, Early Language Milestone Scale, Peabody Picture Vocabulary Test, Gesell & Amatruda's Behavioral Development Scale, Portage Operation Inventory, Language Development Evaluation Scale, Denver Developmental Screening Test, ABFW Child Language Test-phonology and Illinois Test of Psycholinguistic Abilities), according to the children's age group and developmental level.
It was observed that the children with PKU and CH at risk for alterations in their developmental abilities (motor, cognitive, linguistic, adaptive and personal-social), mainly in the first years of life. Alterations in the psycholinguistic abilities were also found, mainly after the preschool age. Attention deficits, language and cognitive alterations were more often observed in children with CH, while attention deficits with hyperactivity and alterations in the personal-social, language and motor adaptive abilities were more frequent in children with PKU.
CH and PKU can cause communicative and psycholinguistic alterations that compromise the communication and affect the social integration and learning of these individuals, proving the need of having these abilities assisted by a speech and language pathologist.
本研究旨在描述苯丙酮尿症(PKU)和先天性甲状腺功能减退症(CH)患儿的言语和心理语言能力。
共有 68 名儿童(25 名年龄在 1 至 120 个月的 PKU 患儿和 43 名年龄在 1 至 60 个月的 CH 患儿)参与了本研究。我们分析了手册并应用了不同的工具(沟通行为观察、早期语言里程碑量表、Peabody 图片词汇测验、 Gesell 和 Amatruda 的行为发展量表、Portage 操作清单、语言发展评估量表、丹佛发育筛查测验、ABFW 儿童语言测验-音韵学和伊利诺伊心理语言能力测验),根据儿童的年龄组和发育水平。
我们观察到 PKU 和 CH 患儿存在发育能力改变的风险(运动、认知、语言、适应和个人-社会),主要在生命的头几年。还发现心理语言能力改变,主要在学龄前以后。注意力缺陷、语言和认知改变更常发生在 CH 患儿中,而注意力缺陷伴多动和个人-社会、语言和运动适应性改变更常见于 PKU 患儿中。
CH 和 PKU 可引起言语和心理语言改变,从而影响这些个体的沟通能力,并影响其社会融合和学习,这证明了这些患儿需要言语和语言病理学家来协助他们的这些能力。