RESUMO
INTRODUCTION: Congenital hypothyroidism (CH) is the most common cause of preventable intellectual disability in the pediatric population. Early diagnosis and treatment during the first month of life are essential to avoid delaying the neuropsychological development of these patients. OBJECTIVE: to describe the social, cognitive, and psychomotor development of children with CH treated at the National Institute of Child Health (INSN) in Lima, Peru. PATIENTS AND METHOD: Retrospective analysis of 26 CH pa tients seen during 2012-2017 at INSN were reviewed. The aspects of neuropsychological development studied were: cognitive development (IQ), social development (social category), and psychomotor development (gait, speech, and chest control). The IQ was classified according to the result of the Weschler IV scale. An analysis was carried out with the Fisher-Freeman-Halton test to verify if there was a difference in the frequency of the variables according to the age of diagnosis and beginning of treatment. RESULTS: Most of the patients presented a borderline IQ (38.5%), the most frequent social category was educable (88.7%), and most of the patients presented delay in developing the speech (88.5%). In the Fisher-Freeman-Halton test, there was only a statistically significant increase in the number of cases of speech delay in patients treated between 22 days and 12 months of age (c2 = 11.246, p = 0.002, V of Cramer = 0.778). CONCLUSION: Neuropsychological developmental delay was more frequent in patients with CH diagnosed and treated after 21 days of age.
Assuntos
Desenvolvimento Infantil/fisiologia , Cognição/fisiologia , Hipotireoidismo Congênito/fisiopatologia , Habilidades Sociais , Criança , Linguagem Infantil , Pré-Escolar , Hipotireoidismo Congênito/complicações , Hipotireoidismo Congênito/diagnóstico , Feminino , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/etiologia , Deficiência Intelectual/prevenção & controle , Inteligência , Transtornos do Desenvolvimento da Linguagem , Masculino , Peru , Desempenho Psicomotor , Estudos RetrospectivosRESUMO
El test del piecito es un estudio que debe hacerse a todo recién nacido y sirve para diagnosticar enfermedades que pueden producir retardo mental. La detección temprana de los bebés afectados es muy importante para el éxito en la prevención de la enfermedad. Debe hacerse a todo recién nacido de manera obligatoria hasta los 30 días después del alumbramiento. En Paraguay la frecuencia de del Hipotiroidismo congénito es de alrededor 1 por cada 3.000 nacidos. El objetivo del presente trabajo es analizar la trascendencia que tuvo la realización del Test del piecito en la Unidad de Salud de la Familia (USF) de Capitán Meza Km. 16 durante los meses de Enero a Junio del 2015. Se realizó un estudio descriptivo, analítico, trasversal, retrospectivo, con metodología cuali-cuantitativa. Se revisaron en total 22 historias clínicas de niños a los que se les realizó el tamizaje neonatal. Los meses de Abril y Mayo fueron los que más Test del Piecito realizaron durante el periodo de estudio con un 22,73 % cada uno. Durante el periodo de estudio, el 100 % de los niños examinados tuvieron resultados negativos al Test del piecito. El sexo de los recién nacidos y sus lugares de procedencia no determinan la realización o no de los exámenes. Si bien el hecho de vivir en zonas alejadas pudiera significar un contratiempo en la accesibilidad al sistema de salud. Desde la toma de la muestra hasta la entrega de los resultados transcurren aproximadamente dos meses. Si los padres no se acercan a retirar los resultados estos se les llevan a su casa durante las visitas domiciliarias que se realizan como parte del trabajo de la atención primaria que desarrolla la USF de Capitán Meza Km. 16
The "Test del piecito" is a test that should be done every newborn and used to diagnose diseases that can cause mental retardation. Early detection of affected babies is very important for success in preventing disease. Everything must be done compulsorily newborn up to 30 days after delivery. In Paraguay the frequency of congenital hypothyroidism is about 1 per 3,000 births. The aim of this paper is to analyze the importance that had the realization of "Test del piecito" in Unit Family Health (USF) Capitan Meza Km. 16 during the months of January to June 2015. A descriptive study was conducted, analytical, transversal, and retrospective, with qualitative and quantitative methodology. Medical records of 22 children who underwent neonatal screening were reviewed in total. The months of April and May were the most "Test del piecito" performed during the study period with 22.73% each. During the study period, 100% of the children surveyed had negative results to "Test del piecito". The sex of newborns and their places of origin do not determine how or whether the exams. While the fact of living in remote areas could mean a setback in accessibility to health care. From sampling to delivery of results takes approximately two months. If parents do not come close to removing these results are taken home during home visits carried out as part of the work of primary care developed by the USF Capitan Meza Km. 16
Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Triagem Neonatal , Fenilcetonúrias/diagnóstico , Fatores Socioeconômicos , Estudos Transversais , Estudos Retrospectivos , Distribuição por Sexo , Hipotireoidismo Congênito/diagnóstico , Deficiência Intelectual/prevenção & controleRESUMO
El hipotiroidismo congénito (HC) fue la primera enfermedad estudiada en Uruguay por un Programa Nacional de Pesquisa Neonatal (PNPN) de forma obligatoria, a partir del decreto 183/94. El no tratamiento oportuno del HC causa severo retardomental y físico, por lo que la implementación de la pesquisa así como el tratamiento tuvieron buena acogida en los ámbitos de pediatría y endocrinología. Desde el comienzo se observó que los niños prematuros, y/o con retardo de crecimiento podían dar falsos negativos, por lo que se comenzó a solicitar una segunda muestra a los 20 días de nacidos. Posteriormente, y a propósito de un caso, se comenzóa solicitar también una segunda muestra a los gemelares. El propósito del presente trabajo es presentar los casos de HC detectados que en la primera muestra dieron negativos y se detectaron en la segunda muestra...
Assuntos
Humanos , Deficiência Intelectual/prevenção & controle , Hipotireoidismo Congênito/diagnóstico , Reações Falso-Negativas , Recém-Nascido Prematuro/crescimento & desenvolvimento , Recém-Nascido Prematuro/metabolismo , Gêmeos , UruguaiRESUMO
El hipotiroidismo congénito (HC) fue la primera enfermedad estudiada en Uruguay por un Programa Nacional de Pesquisa Neonatal (PNPN) de forma obligatoria, a partir del decreto 183/94. El no tratamiento oportuno del HC causa severo retardomental y físico, por lo que la implementación de la pesquisa así como el tratamiento tuvieron buena acogida en los ámbitos de pediatría y endocrinología. Desde el comienzo se observó que los niños prematuros, y/o con retardo de crecimiento podían dar falsos negativos, por lo que se comenzó a solicitar una segunda muestra a los 20 días de nacidos. Posteriormente, y a propósito de un caso, se comenzóa solicitar también una segunda muestra a los gemelares. El propósito del presente trabajo es presentar los casos de HC detectados que en la primera muestra dieron negativos y se detectaron en la segunda muestra
Assuntos
Hipotireoidismo Congênito/diagnóstico , Deficiência Intelectual/prevenção & controle , Recém-Nascido Prematuro/crescimento & desenvolvimento , Recém-Nascido Prematuro/metabolismo , Gêmeos , Reações Falso-Negativas , UruguaiRESUMO
Los trastornos del desarrollo intelectual (TDI) son un grupo de alteraciones del desarrollo caracterizadas por una notable limitación de las funciones cognitivas, trastornos del aprendizaje y de las habilidades y conductas adaptativas. Anteriormente agrupados bajo el término discapacidad intelectual, constituyen un problema poco estudiado y cuantificado en América Latina. Los afectados están ausentes en las políticas públicas y no se benefician de las estrategias gubernamentales de desarrollo social y reducción de la pobreza. En este artículo se aporta una visión crítica de los TDI y se describe una nueva taxonomía. Además, se propone reconocerlos como problema de salud pública, promover la profesionalización de la atención, y sugerir una agenda de investigación y acción regional. En América Latina no hay consenso sobre los criterios diagnósticos de los TDI. Pocos programas de rehabilitación cubren una proporción importante de las personas que los padecen, no se ofrecen servicios basados en la evidencia científica y las directrices de atención no se han evaluado. Los manuales de diagnóstico psiquiátrico conceden más importancia a la identificación de los TDI graves, favorecen su subregistro y clasificaciones erróneas. Su estudio no se ha priorizado desde las perspectivas jurídica, de las ciencias sociales y de la salud pública. Por ello escasean las pruebas científicas sobre estos trastornos. Faltan competencias específicas y profesionalización para el cuidado de estas personas y es indispensable realizar intervenciones de prevención, rehabilitación, integración comunitaria e inclusión laboral.
Intellectual development disorders (IDDs) are a set of development disorders characterized by significantly limited cognitive functioning, learning disorders, and disorders related to adaptive skills and behavior. Previously grouped under the term "intellectual disability," this problem has not been widely studied or quantified in Latin America. Those affected are absent from public policy and do not benefit from government social development and poverty reduction strategies. This article offers a critical look at IDDs and describes a new taxonomy; it also proposes recognizing IDDs as a public health issue and promoting the professionalization of care, and suggests an agenda for research and regional action. In Latin America there is no consensus on the diagnostic criteria for IDDs. A small number of rehabilitation programs cover a significant proportion of the people who suffer from IDDs, evidence-based services are not offered, and health care guidelines have not been evaluated. Manuals on psychiatric diagnosis focus heavily on identifying serious IDDs and contribute to underreporting and erroneous classification. The study of these disorders has not been a legal, social science, or public health priority, resulting in a dearth of scientific evidence on them. Specific competencies and professionalization of care for these persons are needed, and interventions must be carried out with a view to prevention, rehabilitation, community integration, and inclusion in the work force.
Assuntos
Humanos , Política de Saúde , Prioridades em Saúde , Deficiência Intelectual , Pesquisa , Integração Comunitária , Serviços Comunitários de Saúde Mental/organização & administração , Serviços Comunitários de Saúde Mental/provisão & distribuição , Necessidades e Demandas de Serviços de Saúde , Deficiência Intelectual/classificação , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/prevenção & controle , Deficiência Intelectual/reabilitação , América Latina/epidemiologia , Pobreza , Saúde PúblicaRESUMO
OBJETIVOS: Avaliar inteligência e relação com concentrações sanguíneas de fenilalanina e condição socioeconômica de fenilcetonúricos entre 6 e 12 anos em tratamento. MÉTODOS: Sessenta e três crianças, classificadas por níveis de fenilalanina e condição socioeconômica, realizaram Wechsler Intelligence Scale for Children. Utilizou-se o programa Statistical Package for the Social Sciences (SPSS) para analisar níveis de fenilalanina; testes ANOVA para avaliar quociente de inteligência (QI) e níveis de fenilalanina; e regressão logística ordinal para avaliar chances de melhor desempenho em QI. RESULTADOS: Classificaram-se entre limítrofe e nível muito superior em QI total, 90,5% das crianças; em QI verbal, 96,8%; em QI de execução, 92,1%. Tiveram avaliação socioeconômica entre níveis baixo e médio superior, 98,4% das famílias. As chances de apresentar QI superior e médio foram 4,29 vezes maiores nas crianças com controle adequado e 4,03 vezes maiores nas de níveis socioeconômicos melhores. CONCLUSÕES: O tratamento preveniu o retardo mental em 90,5% dos pacientes. O controle dos níveis de fenilalanina e melhor nível socioeconômico se associaram aos melhores desempenhos em QI.
OBJECTIVES: To assess intelligence and its relationship with blood phenylalanine concentrations and socioeconomic status in patients with phenylketonuria after 6 to 12 years of treatment. METHODS: Sixty-three children were classified according to phenylalanine levels and socioeconomic status and assessed using the Wechsler Intelligence Scale for Children. The Statistical Package for the Social Sciences (SPSS) was used to analyze phenylalanine; ANOVA was used to analyze intelligence quotients (IQ) and phenylalanine levels; and ordinal logistic regression was used to analyze the likelihood of higher IQ. RESULTS: The overall IQ scores of 90.5% of the children were within a range from borderline intellectual deficiency to very high intelligence; for verbal IQ this proportion was 96.8% and 92.1% had performance IQ scores within this band. The categories from low to upper-medium socioeconomic status contained 98.4% of patients' families. The likelihood of having medium to high IQ was 4.29 times greater for children with good phenylalanine control and 4.03 greater for those from higher socioeconomic strata. CONCLUSIONS: Treatment prevented mental retardation in 90.5% of the patients. Control of phenylalanine levels and higher socioeconomic status were associated with higher IQ scores.
Assuntos
Criança , Feminino , Humanos , Inteligência , Fenilcetonúrias , Fenilalanina/sangue , Classe Social , Análise de Variância , Deficiência Intelectual/prevenção & controle , Modelos Logísticos , Fenilcetonúrias/sangue , Fenilcetonúrias/psicologia , Escalas de WechslerRESUMO
OBJECTIVES: To assess intelligence and its relationship with blood phenylalanine concentrations and socioeconomic status in patients with phenylketonuria after 6 to 12 years of treatment. METHODS: Sixty-three children were classified according to phenylalanine levels and socioeconomic status and assessed using the Wechsler Intelligence Scale for Children. The Statistical Package for the Social Sciences (SPSS) was used to analyze phenylalanine; ANOVA was used to analyze intelligence quotients (IQ) and phenylalanine levels; and ordinal logistic regression was used to analyze the likelihood of higher IQ. RESULTS: The overall IQ scores of 90.5% of the children were within a range from borderline intellectual deficiency to very high intelligence; for verbal IQ this proportion was 96.8% and 92.1% had performance IQ scores within this band. The categories from low to upper-medium socioeconomic status contained 98.4% of patients' families. The likelihood of having medium to high IQ was 4.29 times greater for children with good phenylalanine control and 4.03 greater for those from higher socioeconomic strata. CONCLUSIONS: Treatment prevented mental retardation in 90.5% of the patients. Control of phenylalanine levels and higher socioeconomic status were associated with higher IQ scores.
Assuntos
Inteligência , Fenilalanina/sangue , Fenilcetonúrias , Classe Social , Análise de Variância , Criança , Feminino , Humanos , Deficiência Intelectual/prevenção & controle , Modelos Logísticos , Masculino , Fenilcetonúrias/sangue , Fenilcetonúrias/psicologia , Escalas de WechslerRESUMO
El déficit de yodo (IDD) es un problema de la Salud Pública que afecta a millones de personas en todo el mundo y es causante de alteraciones en la neuromaduración que pueden ser evitados si se realiza una yodoprofilaxis adecuada. Objetivo: Realizar un monitoreo de IDD en la localidad de Wanda, provincia de Misiones, por su ubicación geográfica y hábitos alimentarios con posible consumo regional de sal no iodada. Se estudiaron en 502 escolares de 5 a 14 años de vida , se evaluaron: peso, talla , BMI y palpación tiroidea. En 114 de ellos se determinó la yoduria en muestras casuales de orina. Se analizaron los niveles de TSH de la pesquisa neonatal de los 18 meses previos al estudio, realizados por métodos sensibles (IFMA-DELFIA). Se aplicaron los criterios de suficiencia establecidos por la OMS/ ICCDD. Resultados: La prevalencia de bocio en la región fue de 6.2 %. Los niveles de yoduria tuvieron una mediana de 239 ug/l. El valor de TSH neonatal mediano fue 1.25 uU/ml. Sólo el 1.4 % de las muestras estaban por encima de 5 uU/ml . Cuando se aplicaron los criterios de la OMS pudo observarse que la prevalencia de bocio superaba levemente lo esperado para una zona suficiente, pero no así los niveles de ioduria ni la distribución de TSH neonatal. Conclusión: El aporte iodado de la región evaluada es suficiente como lo demuestran la ioduria y los niveles de TSH neonatal. La presencia de bociógenos como la mandioca en la dieta puede explicar el leve aumento en la prevalencia de bocio. La utilización de la pesquisa neonatal de hipotiroidismo congénito en la supervisión de la deficiencia de yodo añade un beneficio al objetivo primario que es la prevención del retraso mental.
O b j e c t i v e : To estimate the adequacy of iodide intake in Wanda Misiones through the conventional parameters of ioduria and goiter prevalence in scholars as well as with the distribution of TSH neonatal levels as performed for the hypothyroidism screening program in newborns. Population and methods: Height , and BMI and weight were assessed in 502 scholars aged 5 to 14 and expressed as SDS. In 419 of them (215 female) thyro i d volume was evaluated and classified according to WHO (9). In 114 children iodide urinary concentration was measured in casual urine samples by Sandell y Kolthof method modified by Pino (17). Neonatal screening program for congenital hypothyroidism is carried out in the region measuring TSH in filter paper samples with IFMA DELFIA. Since 2000 7.102 newborn have been screened. TSH level's distribution of the 18 months prior to this study (n 267) were evaluated. Criteria suggested by WHO to indicate iodide deficiency were applied. Results: Height, weight and BMI were normal for the chronological age according to Argentinean population parameters. Goitre prevalence was 6.2 % (7.3 % in girls and 5.3 % in boys), higher that expected for a iodide sufficient area. Iodide urine median levels were 239 ug/l with a distribution that excluded iodide deficiency. Neonatal screening program detected 5 congenital hypothyroid children out of the 7102 newborn studied. All of them were early and adequately treated. Only 1.4 % of the 267 samples were > 5 µU/ml, excluding iodide deficiency. Conclusion: Iodide intake in Wanda, Misiones, is adequate as shown by the findings of iodide urine concentration and TSH neonatal levels. A higher prevalence of goitre than expected for this situation, could be explained by dietary intake of goitrogen food as mandioca. Congenital hypothyroidism screening program in this region was extremely effective. The possibility of using its results for iodide intake supervision is an additional benefit to the one of early prevention of mental retardation.
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Hipotireoidismo Congênito/prevenção & controle , Deficiência de Iodo/diagnóstico , Argentina/etnologia , Bócio/prevenção & controle , Deficiência Intelectual/prevenção & controle , Iodo/urinaRESUMO
This article aimed to evaluate the prevention of mental disability in primary healthcare services in Maringá, Paraná, Brazil. The sample consisted of 90 male and female physicians from different fields, namely gynecology and obstetrics, pediatrics, general practice, and family health, as well as 66 male and female nurses. A multiple-choice questionnaire was filled out by the subjects themselves from August to December 2003. Qualitative variables were compared using the chi-square test at 5% significance level. Partial data relating to both the perception and knowledge of health professionals concerning mental disability were as follows: 75% were unable to choose the correct alternative on prevalence; 25% did not know how the genome contributes to etiology; 37% were unaware of prevention for mental disability; 28% were not confident in providing orientation on the teratogenic effect of ethanol; 35% demonstrated insecurity in orienting patients on amniocentesis. The data showed that participants had an unsatisfactory perception of the relevance of mental disability within the overall population disease profile, and that they need more information on the respective genetic and environmental issues.
Assuntos
Atitude do Pessoal de Saúde , Competência Clínica/normas , Serviços Comunitários de Saúde Mental , Deficiência Intelectual/prevenção & controle , Avaliação de Resultados em Cuidados de Saúde , Brasil , Competência Clínica/estatística & dados numéricos , Serviços Comunitários de Saúde Mental/normas , Estudos Transversais , Feminino , Pessoal de Saúde/psicologia , Pessoal de Saúde/estatística & dados numéricos , Humanos , Masculino , Percepção , Recursos HumanosRESUMO
Introducción.En 1995 se implementó en la provincia de Buenos Aires el Programa de pesquisa del hipotiroidismo congénito,destinado a la detección neonatal y tratamiento oportuno(antes de los 22 días de vida)de niños con esta afección.El objetivo del trabajo es presentar la organización del programa y analizar la evolución de sus resultados en los primeros 5 años de funcionamiento.Población material y métodos:La estrategia de pesquisa se basó en la medición de TSH en sangre seca.En el período de 1995-1999 se evaluaron 581.603 niños.Resultados.De 287 casos que requirieron derivación se confirmaron 245,con una incidencia de 1:2.373 y un valor predictivo positivo del 86,3 por ciento.En 1999,la cobertura del programa alcanzó el 61,3 por ciento de los nacimientos de toda la provincia y el 97,5 por ciento de los ocurridos en los hospitales del Ministerio de Salud Provincial.La edad mediana global para la obtención de la muestra y para el comienzo del tratamiento fue:3 y 16,5 días en hospitales provinciales,3 y 19 días en hospitales municipales y 7,5 y 21 días en el sector privado,respectivamente.Para el conjunto de la población,permanecieron invariables,durante todo el período estudiado,los tiempos transcurridos entre la obtención de la muestra y su llegada al laboratorio de pesquisa(6 días)los del procesamiento de las muestras(2 días)y entre la citación del paciente y su confirmación(3 días)Conclusión.El éxito del programa implica una contribución significativa a la prevención del retardo mental en la provincia de Buenos Aires.Sin embargo queda planteado el desafío de mejorar la cobertura en los ámbitos municipal y privado,así como la eficiencia del programa en la instituciones de este último sector
Assuntos
Recém-Nascido , Hipotireoidismo/congênito , Prevenção Primária , Deficiência Intelectual/prevenção & controle , PediatriaRESUMO
La autora presenta un plan de educación para informar sobre ciertos estudios realizados al recién nacido que permiten detectar en forma temprana enfermedades endócrinas como hipotiroidismo congénito, fenilcetonuria, fibrosis quística, galactosemia y evitar sus graves consecuencias (AU)
Assuntos
Humanos , Masculino , Recém-Nascido , Feminino , Fenilcetonúrias/diagnóstico , Hipotireoidismo/diagnóstico , Galactosemias/diagnóstico , Fibrose Cística/diagnóstico , Fundações , Deficiência Intelectual/prevenção & controle , Fenilcetonúrias , Hipotireoidismo , Galactosemias , Fibrose Cística , Hiperplasia Suprarrenal Congênita/diagnóstico , Argentina , Endocrinologia , Técnicas e Procedimentos Diagnósticos , Legislação como AssuntoRESUMO
OBJECTIVE: Compare two different strategies in newborn screening for congenital hypothyroidism, primary TSH in the umbilical cord blood (method 1) and primary T4 in blood collected from the heel in the 2nd day of life (method 2). METHODS: We compared both strategies in 10,000 newborns, measuring TSH by a sensitive immunofluorimetric assay and T4 by a radioimmunoassay. RESULTS: Both strategies detected all cases of hypothyroidism (4 cases, 1/2,500 newborns). The recalling index owing to insufficient amount of blood to perform the assays was zero in method 1 and 8.5% (850 newborns) in method 2. The recalling index for confirmation of the results was 0.06% (6 newborns) in method 1 and 2.25% (225 newborns) in method 2; when method 2 included supplementary TSH, the recalling index was reduced to 1.63% (163 newborns). CONCLUSION: Our data indicate the technical superiority of the umbilical cord blood compared to heel and primary TSH compared to primary T4 in the neonatal thyroid screening for congenital hypothyroidism.
Assuntos
Hipotireoidismo Congênito , Hipotireoidismo/diagnóstico , Tireotropina/sangue , Tiroxina/sangue , Técnicas e Procedimentos Diagnósticos , Humanos , Recém-Nascido , Deficiência Intelectual/prevenção & controle , Fatores de TempoRESUMO
Introducción. Se presenta en este artículo los resultados del Programa para Prevención de Retraso Mental por Hipotiroidismo Congénito del Laboratorio Regional del Suereste. El objetivo del estudio fue mostrar la frecuencia de este problema en las muestras enviadas por los hospitales de Yucatán, Campeche, Quintana Roo, Chiapas, Tabasco y Oaxaca; asimismo, se describen algunos problemas y dificultades realcionados con éste. Material y métodos. Se estudiaron 58,154 muestras de sangre de niños en edades comprendidas desde el nacimiento hasta los 3 meses de edad, durante el período de enero de 1993 a diciembre de 1995. Resultados. Se detectó 20 casos de hipotiroidismo congénito, lo cual dio una incidencia de 1 caso en 2,907 recién nacidos tamizados. Conclusión. La incidencia fue menor a la reportada en estudios efectuados en México; asimismo, se identificaron algunos problemas relacionados con la toma de la muestras y los seguimientos de los casos sospechosos
Assuntos
Humanos , Recém-Nascido , Hipotireoidismo/congênito , Hipotireoidismo/diagnóstico , Deficiência Intelectual/sangue , Deficiência Intelectual/prevenção & controle , Triagem NeonatalRESUMO
Phenylketonuria (PKU) produces white matter changes identifiable by magnetic resonance imaging. These changes occur postnatally. Offspring of untreated mothers with PKU also have a brain effect, expressed as microcephaly and mental retardation. This effect occurs prenatally. To determine whether the white matter changes seen in PKU are also present in maternal PKU offspring, despite the different developmental stages of exposure to PKU, we performed brain magnetic resonance imaging studies in seven maternal PKU offspring, five from essentially untreated pregnancies and two from treated pregnancies. None had white matter changes, although the one offspring with PKU had delayed myelination. However, hypoplasia of the corpus callosum was present in three of the four offspring from untreated pregnancies and in the offspring from a maternal PKU pregnancy not treated until the third trimester. Unlike PKU, white matter changes are not a feature of the brain effect in maternal PKU. However, hypoplasia of the corpus callosum is a feature of maternal PKU and is probably a result of inhibition of corpus callosum development at 8 to 20 weeks of gestation. The hypoplastic corpus callosum could be a marker for brain effect in maternal PKU and may have implications for the cognitive deficits in these offspring.