Revista Médica Internacional sobre el Síndrome de Down最新文献

Introduction

The physiotherapist is one of the first professionals who work with girls and boys with Down syndrome (DS) from birth. Due to the inherent characteristics of DS, should perform a preventative role from physiotherapy.

Material and methods

There has been studied a population of 14 persons with DS, 6 were girls and 8 were boys, with an average of age between 10 and 11 years. All of them have received as minimum 4 years of treatment physical therapy during his step along the early attention in Granadown. The postural analysis was observations and was realized in three planes of the space.

Results

10 (71.42%) had a lateral tilt of the head, 11 (78.57%) elevation of one of the two shoulders, 8 (57.14%) alterations of the pelvic girdle , 13 (92.85%) suffering from calcaneal valgus, 4 (28.57%) had chest abnormalities, 8 (57.14%) knee valgus, 2 (14.28%) had hallux valgus, 11 (78.57%) antepulsion head, 10 (71.42%) antepulsion right shoulder, 10 (71.42%) cervical kyphosis, 6 (42.85%) dorsal kyphosis, 3 (21.42%) back plane, 11 (78.57%) lumbar lordosis, 9 (64.28%) were hypotonic abdominal muscles and 8 (57.14%) shortening of the hamstrings.

Conclusions

We see the need to conduct longitudinal studies where it is evident from the long-term effectiveness of physiotherapy treatments in early attention. We should conduct periodic reviews in order to prevent alterations of the spine and to counsel families about the type of exercises and activities to be undertaken to prevent future children orthopedic deformities.

The Down syndrome (DS) present different skin manifestations as: alopecia areata (AA), vitiligo, atopic dermatitis, pityriasis rubra pilaris, among others. AA is a chronic autoimmune inflammatory condition T-cell mediated against pilosebaceous follicle with stop of the anagen phase. AA is presented in 6-10% of patiens with DS (general population: 1.7%) and it is more frequent in women. Politherapy is more effective that monotherapy in the treatment of AA in that cases, and the prognosis is different depending of the clinical type of AA.

Children with Down's syndrome show a higher prevalence of attention deficit disorder with or without hyperactivity or impulsivity (ADHD) than the rest of the general population. The diagnosis and identification of ADHD is important because it can affect performance at school and cause behavioural disturbances.

This research study has two objectives. First of all, in this review we consider the repercussions that ADHD has on Down's syndrome children. Secondly, we present a systematic analysis of the articles published in the scientific literature relating to the tests used to diagnose ADHD in Down's syndrome children.

Chromosomal disorders are not usually associated with specific alterations of the skin, with Down's syndrome being an exception, because the skin of the newborn with this syndrome is soft, thin and delicate. It subsequently becomes coarser, drier and rougher, and generalised xerosis associated with keratosis pilaris is common. In the case of mucous membranes, macroglossia and scrotal tongue with protrusion and cleft lip are very common features. Premature aging of the skin and photosensitivity are common features in these patients. The following are among the most significant skin disorders: cutis marmorata, xerosis, palmoplantar hyperkeratosis, cheilitis, seborrhoeic dermatitis, folliculitis, tinea pedis, onychomycosis, crusted scabies (Norwegian scabies), atopic dermatitis, alopecia areata, vitiligo, psoriasis (severe form), pityriasis rubra pilaris, syringoma, elastosis perforans serpiginosa and cutis verticis gyrata. The aim of this study was to carry out a review of existing literature on major dermatological processes and their prevalence in the paediatric patient with Down's syndrome.

The association of achondroplasia and Down syndrome is very rare and only five cases have been reported in the literature so far. These two genetic alterations have overlapping features such as short stature, developmental delay or hypotonia that complicate management and follow up.

We report the case of a girl that is unique since she was born from a mother with achondroplasia and a healthy father. Achondroplasia was dominantly inherited from the Estamother but at birth she had features of Down syndrome as well, confirmed later by kariotype. We review her evolution regarding physical health, cognitive problems and adaptive behavior during her eight years of life.

To our knowledge this is the first report of the combination of both disorders in which the achondroplasia was inherited and not a “de novo” mutation. We address the problems resulting from the additional burden of having two disorders, and how they can be improved, aiming to help others in the future to deal with these cases.

In this article is explained the attention to the first infancy in the Centro de Desarrollo Infantil y Atención Temprana. The child is considered as a member of an essential relationship, as it is the family, and consider the development subjective, relational and maturative.