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...

Extracorporeal membrane oxygenation is an effective rescue treatment for severe cardiorespiratory failure in term or near-term neonates, although a wide range of neurologic sequelae have been noted in a substantial minority of survivors. The objective of the present study was to determine the value of the neonatal electroencephalogram (EEG) for predicting Wechler Preschool and Primary Scale of Intelligence-Revised (WPPSI-R), Wide Range Achievement Test, and Wide Range Assessment of Memory and Language scores at early school age in 66 testable survivors of extracorporeal membrane oxygenation who were not severely brain damaged. Technically satisfactory EEG recordings were obtained at least twice following admission to our nursery and prior to discharge. The EEGs were classified and graded according to standard criteria. The developmental test results of those who had only normal or mildly abnormal neonatal EEGs (group 1, n = 9) were compared with those who had at least one moderately or markedly abnormal recording (group 2, n = 57). School-age test and subtest scores were not statistically significantly worse in group 2 versus group 1 infants. No child in group 1 and five children in group 2 had WPPSI-R Full-Scale IQ scores of less than 70. Of the nine children in group 2 who had at least one markedly abnormal neonatal EEG recording (graded as burst suppression or as electrographic seizure), only two had abnormally low WPPSI-R Full-Scale IQ scores. We conclude that EEG recordings obtained during the neonatal course of neonates treated with extracorporeal membrane oxygenation do not predict cognitive and academic achievement test results in survivors at early school age who were testable and not severely brain damaged.

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Six male Quechua Indians (34.0 +/- 1.1 yr, 159.5 +/- 2.1 cm, 60.5 +/- 1.6 kg), life-long residents of La Raya, Peru (4,350-m altitude with an average barometric pressure of 460 Torr), were studied using noninvasive methods to determine the structural and functional changes in the cardiovascular system in response to a 6-wk deacclimation period at sea level. Cardiac output, stroke volume, and left ventricular ejection fractions were determined using radionuclide angiographic techniques at rest and during exercise on a cycle ergometer at 40, 60, and 90% of a previously determined maximal O2 consumption. Subjects at rest were subjected to two-dimensional and M-mode echocardiograms and a standard 12-lead electrocardiogram. Hemoglobin and hematocrit were measured on arrival at sea level by use of a Coulter Stacker S+ analyzer. After a 6-wk deacclimation period, all variables were remeasured using the identical methodology. Hemoglobin values decreased significantly over the deacclimation period (15.7 +/- 1.1 to 13.5 +/- 1.2 g/dl; P less than 0.01). The results indicate that the removal of these high-altitude-adapted natives from 4,300 m to sea level for 6 wk results in only minor changes to the cardiac structure and function as measured by these noninvasive techniques.

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