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By Ann M. Willey

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Extra resources for Clinical Genetics. Problems in Diagnosis and Counseling

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By c o n t r a s t , virtually all r e p o r t e d m a t e r n a l P K U pregnancies in w h i c h diet began prior t o c o n c e p t i o n have resulted in offspring w i t h n o r m a l g r o w t h a n d d e v e l o p m e n t , at least t h r o u g h t h e first year o f i i f e . * ^ ' ^ These r e p o r t s suggest t h a t t o be effective t h e diet m u s t begin before c o n c e p t i o n . If so, it is imperative t h a t r e p r o d u c t i v e counselling b e given t o girls w i t h P K U so t h a t pregnancies are carefully p l a n n e d .

Eur J Pediatr 1 9 7 7 ; 1 2 6 : 2 5 3 - 6 2 . 34 Eileen R. Naughten and Harvey L. Levy 3 7 . S m i t h I, L o b a s c h e r M E , Stevenson J E , et al. Effect of stopping lowphenylalanine diet o n intellectual progress of children w i t h p h e n y l k e t o nuria. Brit Med J 1 9 7 8 ; 2 : 7 2 3 - 2 6 . 3 8 . Waisbren S E , Schnell R R , Levy H L . Diet t e r m i n a t i o n in children w i t h p h e n y l k e t o n u r i a : A review of psychological assessments used t o d e t e r m i n e o u t c o m e .

Of 8 2 , and w h o c o n t i n u e d t o progress while o n t h e diet. T h e benefit of d i e t a r y t r e a t m e n t t o t h e adolescent or adult w i t h P K U w h o already h a s long established brain damage is m u c h m o r e difficult t o assess. Behavioral a m e l i o r a t i o n as a result of dietary t h e r a p y has occurred in this g r o u p . ^ ' ^ H o w e v e r , a s t u d y of this issue using dietary t h e r a p y and behavioral m o d i f i c a t i o n t e c h n i q u e s in institutionalized a d u l t s c o n c l u d e d t h a t only t h e occasional individual is i m p r o v e d .

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