Maternal hyperphenylalaninemia syndrome: neuropsychological evaluation of four subjects during childhood and adolescence.
Minerva Pediatr
; 58(6): 557-69, 2006 Dec.
Article
en En, It
| MEDLINE
| ID: mdl-17093378
Maternal hyperphenylalanemia during pregnancy may induce a severe embryopathy characterized by microcephaly, mental retardation, facial dysmorphy and congenital heart defects. Four subjects, two pairs of sibs, with maternal hyperphenylalaninemia syndrome were included in this study and their neuropsychological performances were assessed. Maternal levels of hyperphenylalaninemia were similar in both mothers, one of them had not been diagnosed with the condition until her two children were examined at the ages of 10 and 6 years. A severe cognitive deficit was detected in all 4 subjects, with a typical profile of impaired perceptive abilities, behavioural disturbances, motor difficulties and poor familiar integration.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Trastornos de la Conducta Infantil
/
Fenilcetonuria Materna
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Trastornos del Conocimiento
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Discapacidad Intelectual
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
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Adult
/
Child
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Female
/
Humans
/
Male
/
Pregnancy
Idioma:
En
/
It
Revista:
Minerva Pediatr
Año:
2006
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Italia