We studied a sample of young subjects affected by Bardet-Biedl syndrome (BBS) with the aim to identify peculiar hallmarks useful for early diagnosis during developmental age. Methods: 12 children, aged between 3 and 19 years, underwent complete ophthalmological and orthoptic examination, VEP and ERG. ERG was exstinguished or notably reduced in all subjects (recognized as the earlier predictant factor). Fundus oculi was characterized by absence of pigmentary changes of the retina, by narrowing of retinal vessels and by a cereous aspect of the optic nerve in 91% of cases. Absence of macular reflexes and chellophan maculopathy were present in one subject. Visual acuity was only mildly reduced in younger subjects. Retinal involvement occurs very early in childhood. Severe ERG abnormalities are present while retinal changes are minimal. A primitive involvement of the optic nerve and of the macula was also noted. ERG was the earlier predictant of tapetoretinal degeneration in the BBS and allows a differential diagnosis with similar forms, without retinopathy, such as Prader-Willy syndrome and Biemond II syndrome.
This study investigates possible type of treatment of spelling disorders, increasing phonema-graphema association stability. Eighteen children with specific learning disability, 7-11 years old with spelling performances < -2SD, were followed-up for about one year. During this period of time, they were recruited for a therapeutic program, divided into three working groups, and lasting three months. Phonema-graphema conversion is improved using a procedure that helps the child to distinguish similar phonema and graphema, rising mnemonic learning of images suggesting known words to be compared with doubtful sounds. Spelling performances were significantly improved (p < 0.01), particularly phonologic mistakes (p < 0.01). A comparable evolution did not occur during the control period, and lasted after the four month summer holiday.
