One hundred twenty-two patients with clinically confirmed Brachmann-de Lange syndrome (BDLS) were evaluated developmentally. Recruitment was made from our genetics department and through meetings of the Cornelia de Lange Syndrome Foundation parent support group. Developmental information was obtained from records of physicians, schools and developmental centers, or from parents on each of the 122 individuals, allowing division into four groups for study: group 1 (n = 48) underwent formal developmental assessments, which generated intelligence or developmental quotients, and had a completed parental questionnaire with specific developmental questions regarding ages of skills mastered; group II (n = 23) had additional developmental records available without formal testing, as well as the questionnaire; group III (n = 22) had only a completed questionnaire; and group IV (n = 29) had formal developmental testing or other developmental records but no available questionnaire. These data were analyzed in order to be able to predict attainable psychomotor development. Average scores on formal testing were found to be in the mild to moderate level of mental retardation, ranging from below 30 to 85, with an average intelligence quotient of 53, higher than previously reported. Visual-spatial memory and perceptual organization skills were found to be strengths. Younger individuals born before 1980 demonstrated higher scores on testing. Early intervention appears to play a major role in the level of developmental achievement.

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was made e i t h e r d i d n o t s u r v i v e g e s t a t i o n or t h e i n i t-i a l neonatal p e r i o d due t o i n t e r r u p t i o n of t h e pregnancy or i n t r a p a r t u m demise. GA a t d i a g n o s i s v a r i e d f r o m 2 6 t o 3 8 w k s w i t h a m e a n of 3 1 wks. Age a t d e l i v e r y v a r i e d from 32 t o 4 0 wks with a mean of 36 wks. Four of t h e s e c h i l d r e n had myelomeningocoele, 6 had hydrocephalus without o t h e r anomalies, t h r e e had i n t r a c r a n i a l c y s t s , and one had an encephalocoele. A l l of them underwent v e n t r i c u l o-p e r i t o n e a 1 shunting. Five had shunt r e l a t e d i n f e c t i o n s. S i x had Bayley mental or Stanford-Binet s c o r e s >80 (4 3 %) , 2 had s c o r e s between 65 and 80 (1 4 %) , and 6 had s c o r e s <65 (4 3 %). The poorer outcome of t h i s group i n com-p a r i s o n t o o t h e r s e r i e s of such hydrocephalus may r e l a t e both t o t h e e a r l y s t a g e a t which t h e d i a g n o s i s was made such t h a t c h i l d r e n with more s e v e r e con-d i t i o n s have survived and t h e high r a t e of i n f e c t i o n. EIOGENIC AMINE METABOLISM IN RETT'S SYNDROME, Huda. P e d i a t r i c s & Neurology, Houston, Texas. R e t t ' s Syndrome i s a progressive d i s o r d e r i n females charac-t e r i z e d by a u t i s t i c behavior, dementia, a t a x i a , l o s s of purpose-f u l use of t h e hands and s e i z u r e s. Extensive laboratory i n v e s t i-g a t i o n s a r e usually normal with t h e exception of electroenceph-alography. To d a t e no biochemical abnormalities have been reported. In an attempt t o f i n d a lead t o t h e pathogenesis of t h i s syndrome we assayed biogenic amine metabolites i n t h e cerebrospinal f l u i d (CSF) of s i x p a t i e n t s , age 2-15 y e a r s , with R e t t ' s Syndrome. The following metabolites were assayed and compared t o age matched controls: 3-methoxy-4-hydroxyphenyl-ethyleneglycol (MHPG) , homovani 11 i c acid (HVA) and 5-hydroxy-indole a c e t i c a c i d (5-HIAA). Results a r e a s follows: Mean + S.D. (nglml). MHPG HVA 5-HIAA P a t i e n t s 7.81t1.49 64.70i26.5 23.83t6.25 Controls 12.35t0.64 110.23+25.83 32.07+8.26 p-val ue 0.0005 0.0008 0.004 Thus, norepinephrine, dopamine, and serotonin metabolites a r e s i g n i f i c a n t l y reduced i n t h e CSF of p a t i e n t s with R e t t ' s Syndrome. This may provide new i n s i g h t i n t o t h e pathogenesis and f u t u r e t h e r a p e u t i c i n t e r v e n t i o n i n t h e s e p a t i e n t s. DIAcs.IOSIS OF GSEBRAL ATROPHY I N WFANTS BY THE NEAR-F I m. MErHOD: A m TECHNIQUE IN CRPNIAZl SONOC,RAPIN ' 671 by Asma Q. fischer, Medical College of Georgia, Dept. of Neurolcqy, Augusta, Georgia Cerebral atrophy in infants has been difficult to assess by cranial sonogram (CS) because the subarachnoid space has been a "blind spot" by ultrasound, yet CS is an ideal imaging methcd for infants as it is portable, non-radiative and unlike c q u t e d cranial tam-qraphy (CCT), requires no intra...