Mariana Germano Gejão

Habilidades do desenvolvimento em crianças com hipotireoidismo congênito: enfoque na comunicação

BACKGROUND: congenital hypothyroidism may cause alterations in the childs global development. AIM: to outline the development profile in children with congenital hypothyroidism, focusing on communication, and to verify the influence of clinical history on the outlined profile. METHOD: 35 children, with ages between 2 to 36 months, with congenital hypothyroidism detected by neonatal screening, and who were in treatment for at least one month using hormonal replacement were assessed using the Early Language Milestone Scale (ELM) and the Portage Operation Inventory (POI). The clinical history was obtained in an interview with the family and from the analysis of medical records. RESULTS: in the ELM, eleven children presented a poor performance in the expressive auditory function, two in the visual function and one in the receptive auditory function. In the POI, seven children presented a poor performance in the language section, five in cognitive section, four in the motor and social sections and three in the self-care section. There was no correlation between the results obtained in the assessments and the clinical history. CONCLUSION: most of the children presented adequate performances in the evaluated skills. For the children with altered performance, larger deficits were observed in the language section, for the expressive aspects, and in the cognitive section. The influence of clinical history on the development profile was not confirmed. However, a tendency for an adequate performance was observed in those children who underwent neonatal screening, received an early diagnosis and treatment for the congenital hypothyroidism and who received higher doses of thyroxine at the beginning of treatment. The importance of a speech-language follow-up for communication development in this population is highlighted.

Communicative and psycholinguistic abilities in children with phenylketonuria and congenital hypothyroidism

ABSTRACT 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. 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 & Amatrudas 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 childrens 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.

Habilidades de leitura em crianças com diagnóstico de hiperlexia: relato de caso

Hyperlexia is characterized by spontaneous and early acquisition of reading skills, manifested before the age of five, without any formal education. Expressive and receptive language deficit, excellent memory, delayed language skills, echolalia, perseverations, and difficulty to understand verbal contexts, are common symptoms in individuals with hyperlexia and global developmental disorders, including Aspergers syndrome. The aim of this study was to describe the reading skills of individuals with hyperlexia. The participants were six boys with a history of hyperlexia, perceived by relatives before 36 months of life, chronologically aged between four years and four months to five years and two months. The following evaluation procedures were applied: interview with the parents or responsible guardians, communicative behavior observation, Peabody Picture Vocabulary Test (PPVT), recognition of alphabet letters and numbers, School Performance Test, text reading, and reading comprehension. The participants showed different performances in the PPVT, and recognized letters, numbers and isolated words. There was difficulty in answering the writing subtest; the majority did not understand the text that they read and all of them demonstrated recognition of letters and numbers. Some participants were able to read words and texts. However, all participants presented alterations in other areas of language development, such as receptive vocabulary, communicative behavior and understanding of the material read, in addition to altered behaviors of social adaptation, both interactive and restrictive.

Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child.

We report on the clinical, neuropsychological and language characteristics of a boy with left ventricular noncompaction cardiomyopathy (LVNC), agenesis of the splenium of the corpus callosum, minor anomalies of face and limbs, mild mental retardation, and speech and language disabilities. The occurrence of pilomatricoma (calcifying epithelioma) may be part of the clinical spectrum or a fortuitous finding. Compared to other related conditions with LVNC suggests that this is a “new” unique pattern MCA/MR syndrome.

Desenvolvimento infantil na fenilcetonúria: atuação fonoaudiológica

BACKGROUND: phenylketonuria is manifested by partial or total deficiency of the hepatic enzyme phenylalanine hydroxylase that, in excess, has a toxic effect on the central nervous system functions, reflecting in the individuals global development. PURPOSE: to submit the alterations in the development verified in scientific studies with individuals with phenylketonuria, and to contemplate the abilities related to language development. CONCLUSION: individuals with phenylketonuria are risky for alterations in the cognitive, linguistics, motor and social-behavior functions. Deficits in the executive functions and neuropsychological abilities are common and imply in discrepancies as for language abilities development. The findings justify the proposal forwarding to the Ministry of Health with views to contracting a Speech and Language Pathologist in the accredited Neonatal Screening Programs.

EVOLUÇÃO DO PROCESSO TERAPÊUTICO FONOAUDIOLÓGICO NO DISTÚRBIO ESPECÍFICO DE LINGUAGEM (DEL): RELATO DE CASO

The aim of this study was to describe the clinical course of a nine years girl diagnosed with SLI attended the Clinic of Child Language, FOB-USP. Longitudinal carried out was realized, through analysis of medical records and filming. The speech and language therapy began when the child was five years and presented the initial complaint of phonological alterations and impairments in the speech intelligibility. It was found phonological processes not expected for age, alterations in semantic, syntactic and pragmatic and in auditory perceptual processes. The receptive language was preserved. The intervention focused on the organization of linguistics subsystems, mainly the information processing skills. After 12 months, there was evolution of the aspects, except the phonological, with less significant evolution. Activities directed to written language were included when the child started primary school. After 42 months of intervention, there was evolution of phonological aspect. However, this evolution is not observed in spontaneous speech. Alterations in these aspects exert great influence on the performance of written language. The phonological awareness skill is adequate, however, there is difficulty in converting phoneme/grapheme, resulting in performance very short in written language. There is impairment in the linguistic information processing, and persisting alterations, common in the frames of SLI, which lead to gaps in the literacy process. To conduct the therapeutic process is necessary to understand the nature of language difficulties, developing specific strategies geared mainly to linguistic information processing and learning, providing skills and empowering the individual to active participation in school and social settings.

Acompanhamento do aleitamento materno no tratamento de crianças com fenilcetonúria

Phenylketonuria (PKU) is the inability to convert phenylalanine into tyrosine, causing toxic effects to the central nervous system. Traditionally, in the treatment of PKU, breastfeeding is replaced by formula milk. This study verified the effects of breastfeeding as a source of phenylalanine on the development of children with PKU. Participants were ten infants with PKU who started treatment with the introduction of formula before 30 days of life, and maintained breastfeeding for at least 30 days after the start of procedures. The procedures were based on estimating breast milk intake, with a safe margin of phenylalanine concentration, calculating stomach volume, and initially offering formula, then breastfeeding on free demand, at every feeding. Breastfeeding duration ranged from one month and five days to 14 months. Blood controls were tested weekly. If the serum level of phenylalanine was >2 mg/dL and 2 mg/dL, the formula was decreased by 25%, indirectly increasing breastfeeding; if it was <6 mg/dL the formula was increased by 50%. The phenylalanine levels were assessed, and the Early Milestone Scale and the Basic Steps of Development were applied. Those who had normative index in all evaluations were considered adequate. Eighty percent of infants were able to keep safe concentrations of phenylalanine and development within normal indices. Continued breastfeeding is viable in the treatment of children with PKU, provided that phenylalanine levels are strictly controlled and the effects of breastfeeding on child development are monitored.

Fenilcetonúria e habilidades de leitura e escrita

PURPOSE: to verify the performance of individuals with phenylketonuria diagnosed and treated early, regarding the reading and writing skills and to correlate such performance with the receptive vocabulary and the Intellectual Quotient. Methods: the participants were 17 individuals with chronological age between 7 and 14. All of them were attending second to seventh grade in public schools. Data was collected from medical records on diagnosis, treatment, socioeconomic status, and scores of Intellectual Quotient and these instruments were applied: the Peabody Picture Vocabulary Test and the Academic Performance Test (writing and reading subtests). Parents also answered questions on the context of everyday school life. Statistical analysis was inferential and the Pearson Correlation Test was applied (p ≤ .05). RESULTS: the analysis of the medical records found that no participant was able to maintain the levels of phenylalanine in normative indexes throughout life; 29.41% were diagnosed with Attention Deficit Hyperactivity Disorder, 41.17% had sleep problems and 64.70% had irritability and negativism. In the reading and writing subtests, 23.53% had scores compatible with their level of education, at average levels or above, 41.18% were classified as below average in the assessment of receptive vocabulary by the Peabody Picture Vocabulary Test. There was a correlation between the performance in the reading and writing tests and the Intellectual Quotient scores and the performance in the receptive vocabulary test. CONCLUSION: although participants obtained normative scores in Intellectual Quotient, they presented difficulties in the performance of the reading and writing subtests. Additional studies are necessary to really understand the academic needs of individuals with phenylketonuria.

Evolução comunicativa em gemelares com atraso no desenvolvimento da linguagem

The theme of this study is the communicative behavior of twins with language disorders before and after speech therapy. Data from two pairs of male twins with a diagnosis of language delay were analyzed (monozygotic – S1/S2, dizygotic – S3/S4). Data were collected in assessments made pre and post speech-language audiology intervention through: semi-structured interviews with the parents, observation of communicative behavior, and language and development scale test. The speech-language audiology intervention lasted for 34 months for S1/S2 (from two years and five months to five years and three months) and 17 months for S3/S4 (from three years and seven months to five years and four months). More severe pre, peri and post natal complications with a greater psychomotor and communicative impairment were observed in the pre speech-language audiology intervention assessment. S3/S4 showed less severe pre, peri and post natal complications and development delay occurring only in language. The age of the children in post intervention assessment was similar, however, the pair S1/S2 showed a more damaged global and communicative development, even having received a longer speech-language audiology intervention. S3 showed a performance approximate to the typical development and S4 had difficulties just concerning phonology and pragmatics. The experiences of twins, differentiated as to interpersonal circumstances, lead to atypical language development, due to the reduced objective need of linguistic interaction. The post natal complications in S1/S2 exacerbated the delay in child development, encompassing the communicative development.