Abstract

ABSTRACTThe 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. Objective: The aim of this study was to describe communicative and psycholinguistic abilities in children with CH and PKU. Materials and Methods: 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. Results: 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. Conclusion: 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.

Highlights

  • Neonatal screening program (NSP) is the popular name attributed to the Neonatal Screening for Inborn Errors of Metabolism, which has the objective of detecting early congenital hypothyroidism (CH) and phenylketonuria (PKU), among other alterations that can cause LQWHOOHFWXDO GH¿FLHQF\7

  • The multidisciplinary team for the assistance to the individuals is composed by a pediatrician, an endocrinologist, a nutritionist, a psychologist, a neurologist, a social assistant, a speech language pathologist and a biochemist

  • This is a pioneering work in this area because the speech language pathologist is not included in the team of professionals proposed by the Ministry Health

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Summary

Introduction

The NSP of the Association of Parents and Friends of Special Needs Individuals/Bauru (APAE-Bauru) was implanted and accredited by Brazilian Ministry of Health in 1998. It covers approximately 286 cities of the Bauru area, totalizing 420 collection spots. The multidisciplinary team for the assistance to the individuals is composed by a pediatrician, an endocrinologist, a nutritionist, a psychologist, a neurologist, a social assistant, a speech language pathologist and a biochemist This is a pioneering work in this area because the speech language pathologist is not included in the team of professionals proposed by the Ministry Health. Studies have shown communicative, psycholinguistic, cognitive, motor and personal-social developmental alterations, even in children with early beginning of treatment[3,5,10,15,18,22,25,27-29]

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