Da poco abbiamo iniziato il corso di genetica medica all'università, che ci ha incuriositi riguardo alle patologie causate da mutazioni, aggiunta o delezione di un cromosoma.. Quindi per la nostra prima ricerca sul database siamo riusciti a trovare qualche informazione in più sulla Sindrome di Down, la "famosa" trisomia del 21 purtroppo abbastanza frequente oggi. Ecco cosa abbiamo trovato:
Down syndrome is the most common chromosome abnormality of man. The isolated occurrence of any one of the most of the protean systemic and ocular features of Down syndrome is not specific to the disorder. The associated occurrence of several of these features, however, has distinguished affected individuals as having a distinct entity for nearly 125 years. Recent advances in prenatal diagnosis have allowed the earlier detection, in utero, of chromosomal abnormalities. Although predisposing genetic and environmental influences remain for the most part unknown, advances in molecular biology are leading to a greater understanding of other common disorders that occur with an increased incidence in individuals with Down syndrome; these include Alzheimer's disease, acute childhood leukemia, congenital heart malformations, and immunologic abnormalities. Associated ocular disorders can significantly affect the quality of life of individuals with Down syndrome. As more children with Down syndrome live into adulthood, the ophthalmologist will play an increasing role in allowing them to lead productive and meaningful lives.
Down syndrome is caused by triplicate material of chromosome 21. The syndrome has a variable physical expression, but congenital cardiac defects, transient myelodysplasia of the newborn and duodenal atresia are highly specific for this chromosomal disorder. Routine health maintenance is important because infants and children with Down syndrome are more likely to have otitis media, thyroid disease, congenital cataracts, leukemoid reactions, dental problems and feeding difficulties. Since infants with this syndrome are prone to respiratory infections, immunization recommendations should be followed closely. Motor, language, social and adaptive skills should be assessed at each office visit. The psychosocial aspects of care should be discussed with the parents of an infant with Down syndrome. If necessary, the parents should be referred to family support and specialty resources. Institutionalization of infants with Down syndrome is now unlikely. With newer surgical techniques, early therapy to minimize developmental delay and proper health supervision, the functional prognosis for infants with Down syndrome is considerably improved.
Although feeding difficulties in infants with Down syndrome are described in the literature, the experiences of parents regarding the feeding problems of their infants are largely omitted. In order to promote closer collaboration with families and speech-language therapists in early communication intervention, the study investigated some experiences of a group of parents concerning the feeding problems of their infants with Down syndrome. A descriptive survey approach was implemented to collect quantitative data. The results revealed the type of feeding problems and associated conditions occurring in the infants of the twenty participants; the type of feeding methods used; the assistance received during the feeding problems; the emotions experienced in relation to the feeding problems in their infants as well as suggestions made by the participants regarding the management of early feeding problems. Numerous feeding problems occurred in the infants and the variety of emotions experienced by the participants indicated that feeding therapy and counseling were required. As a result of the different conditions underlying the feeding problems of the participants' infants, a comprehensive approach, which included therapeutic and medical intervention, was necessary. In order to provide effective early communication intervention services from birth, the results indicated that the knowledge, skills and sensitivity of speech language therapists to identify caregiver needs, to provide appropriate family-focused intervention and to make recommendations regarding the management of feeding problems in infants with Down syndrome is of great importance.
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