[Which kind of early intervention for neurodevelopmental disorders?].
Explore the source record for details and available documents.
Biomedical subjects
Publications and source records attributed to A Beucher.
Explore the source record for details and available documents.
Newborns are given attentive perinatal care but the organization of further follow-up can be haphazard. The main consequences are the difficulties parents have in finding appropriate medical assistance for caring for high-risk infants and the absence of appropriate surveillance or efficient care. An inpatient-outpatient healthcare network enables early care of these infants and can reduce the consequences of neurosensorial sequelae. The overall impact of the regional perinatal care can also be evaluated. Such a network has been implemented in the Pays de Loire region in France since early 2003. In six months, among 1000 initially included infants, 500 were followed by pediatricians working in an outpatient (40%) or inpatient (60%) setting. This organization enables correction of over-centralization of neonatal care and the absence of coordination for follow up.
It is widely accepted that the cause of congenital deafness is genetic in one third of cases roughly, is due to acquired affections during pregnancy or delivery in another third and remains unknown in the last third. It is possible that the cytomegalovirus (CMV) plays an important role in the latter group. The CMV is thought to be involved in 10 to 30% of cases of auditory sequelae from fetal infection, either severe neonatal CMV-induced disease, which is rare, or the frequent subclinical infections affecting an average of 1% of newborn infants. The only certain way to determine the importance of the role of CMV in deafness of unknown etiology is large-scale neonatal biologic screening followed by long-term audiologic surveillance: currently available documented data suggest that this role is very important.
Explore the source record for details and available documents.
After a brief review of the dysgenetic abnormalities which may affect the ear, branchial arches and pouches and the kidneys, the authors summarise those syndromes associating abnormalities of the ear and kidney on the one hand, and secondly abnormalities of the ear and facial and cervical fistulae. However, they are specifically interested in the branchio-oto-renal syndrome, reporting 5 cases. The syndrome combines deafness (middle ear and inner ear), pre-auricular and cervical fistulae and renal abnormalities. They attempt to summarise the syndrome by combining these 5 cases with the 15 published previously (4 initial cases of Melnick in 1974, 4 cases of Fitch in 1976, 7 of Fraser in 1978). The genetically transmissible nature of the syndrome would appear to be beyond doubt. The branchio-oto-renal syndrome was described for the first time in 1974 by Melnick, Bixter and Silk, who reported its existence in a father and three of his children, with an association of a malformation of the middle ear (block of the stapes), of the inner ear (cochlear hypoplasia), bilateral pre-auricular fistulae, bilateral cervical fistulae and renal hypoplasia with or without displasia. In 1974, Fitch and Srolowitz reported 4 new cases, and Fraser, Ling, Ologe and Nogrady a further 7 in 1978. The 5 cases published here bring the total known number to 20.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.