Chorio-retinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome.

A condition is described which is characterized by chorio-retinal dysplasia , microcephaly and mental retardation, transmitted in an autosomal dominant fashion with variable expressivity. It is suggested that this condition is a distinct autosomal dominant syndrome

OBSERVATIONS ON THE VISUAL-PERCEPTUAL ABILITIES AND ADAPTIVE-BEHAVIOR IN ADULTS WITH DOWN-SYNDROME

In this research,we consider some psychological, social, and clinical implications of premature aging in persons with Down syndrome (DS). Perceptual and adaptive tests contribute to a better knowledge of the characteristics of mental decline and self-government in DS adults. Visual-perceptual abilities (as measured by the Frosting Development Test of Visual Perception) and behavioral and social adaptation (measured by the Brown Adaptive Behavioral Inventory) were examined in 44 DS subjects aged 14 to 43 years. The results indicated a general decline in performance in the older groups (over 25 years), except in the visual-motor subtest, where a decline is less evident, as this ability continues to be exercised in craft work. Statistical analysis indicates a significant correlation between perceptual abilities, adaptive scales, and mental age. From the data collected, we draw some general conclusions about the trend of perceptual abilities and self-government in relation to aging in DS persons

Analysis of disaccharidase activity of the amniotic fluid for the early prenatal diagnosis of abnormalities of patency and motility of the fetal intestine.

Sono state dosate sette attivit\ue0 disaccaridasiche (maItasi, saccarasi, trealasi, palatinasi , turanasi , lattasi e cellobiasi) in 124 campionii di liquido amniotico, ottenuti mediante amniocentesi transaddominali eseguite da 116 gravide tra la 14 e la 39 settimana gestazionale. Le attivit\ue0 enzimatiche presentano i valori pi\uf9 elevati fra la 16 e la 18 settimana gestazionale, e decrescono fra la 19 e la 23 settimana gestazionale; tutte le attivit\ue0 di saccaridasiche, sono risultate strettamente correlate fra loro. Un feto con onfalocele ed atresia intestinale e tre feti con anencefalia hanno presentato attivit\ue0 enzimatiche inferiori a - 2 Deviazioni Standard dalla media o inferiori al pi\uf9 basso dei valori normali riscontrato nei controlli di pari et\ue0 gestazionate. Gli Autori confermano l'utilit\ue0 del dosaggio delle disaccaridasi nel liquido amniotico per la diagnosi prenatale delle alterazioni della perviet\ue0 emotilit\ue0 intestinale; sottolineano che la massima attendibilit\ue0 del test \ue8 compresa tra la 15 e la 19 settimana gestazionale, e ritengono necessari ulteriori studi nei campioni di li quido amniotico prelevati fra la 19 e la 23 settimana gestazionale, allo scopo di definire con esattezza i l periodo di gravidanza in cui i risultat di tale test sono attendibili. Per ultimo propongono che la determinazione sia limitata a sole quattro attivit\ue0 disaccaridasiche (maltasi, trealas, turanasi e lattasi)

Growth and development in Down's syndrome. A series of 337 children from Veneto, Italy

A group of 205 boys and 132 girls with Down's syndrome, raised at home have been followed up at this center from 1970 to date. All were ambulatory and all trisom i c 2 I. The present study, analyzed data from longitudinal observations on standing height, weight, and head circumference, measured by standard anthropometric procedures and, when available, from the psycho motor milestones. The parental age at birth was also recorded and compared to the controls. All data were compared to those of 2500 and 2300 normal boys and girls, respectively, from the same area (Veneto Italy)