Regular Article

Medical management of children with Down's syndrome

Patients with Down syndrome often suffer from protruding tongue, various dental and occlusal anomalies. Characteristic features of midface hypoplasia in Down syndrome include smaller maxilla, narrower bridge of the nose and presence of “stair” palate. Possibilities of an active orthodontic treatment and its impact on tongue position, oral hygiene, quality of speech and bruxism in patients with Down syndrome, treated orthodontically at the Orthodontic Department Medical University of Lodz. Various types of malocclusions including maxillary hypoplasia, total mesiocclusion, pathological attrition of primary molar due to bruxism, total distocclusion with primary crowdings, persistent infantile type of swallowing were observed. During first phase of treatment, upper plate by Castillo Morales was used; in the second phase patients are currently undergoing active orthodontic treatment with Schwarz plates. The state of oral hygiene was assessed using OHI Index by Green and Vermillon. Glossogram was made in order to assess the tongue position. The state of oral hygiene was sufficient both in the maxilla and in the mandible with OHI values 1.67 and 2.0, respectively. The position of tongue and the pronunciation of polish sounds m,b,p,r. during spontaneous speech improved during orthodontic treatment. In patients with Down syndrome correct speech can be restored and facial aesthetics improved through orthodontic rehabilitation. Nevertheless, the state of oral hygiene proved to be unsatisfactory.

La observación de una lactante de origen etíope con síndrome de Down y malnutrición grave permite reflexionar sobre las condiciones sociales y sanitarias de Etiopía y las causas que han posibilitado que se llegue a esa situación extrema.

Observation of an Ethiopian infant with Down's syndrome with severe malnutrition, and reflection on the effect that the social and health conditions in Ethiopia had on the causes leading to this extreme situation.

Background: School-aged children with Down syndrome experience an array of medical conditions and health care problems. Although there have been vast improvements in the medical management of these conditions, they still significantly impact on quality of life for families and children with Down syndrome. However, despite the magnitude of this problem limited literature has described the overall health status of children with Down syndrome.

Aim: The purpose of this review was to describe the medical conditions commonly experienced by school-aged children with Down syndrome and to consider the clinical implications of this knowledge.

Methods: Electronic searches of Medline, CINAHL, and PsychINFO and manual searches of reference lists identified relevant articles from 1990 to 2009. Studies were included if the topic involved one or more medical comorbidity and participants were children aged 18 years or younger with a diagnosis of Down syndrome. Articles were excluded at the title or abstract level if they were not peer-reviewed, in a language other than English, or did not meet the inclusion criteria. A narrative review of this research was possible.

Results: Common medical conditions experienced by school-aged children with Down syndrome include: heart disease; respiratory problems; gastrointestinal disorders; obesity; ophthalmological, ear, and hearing problems; musculoskeletal problems; leukemia and thyroid conditions; frequent infections; and dental disease. Prevalence estimates for these conditions varied depending on the diagnostic criteria or study methodologies.

The incidence of urinary tract abnormalities in patients with Down's syndrome (DS) is estimated to be 3–7%. Abnormalities included are renal hypoplasia, renal cysts, ureterovesical and ureteropelvic junction obstruction and, more recently, an association between males with DS and the non-neurogenic neurogenic bladder has been reported. Based on clinical experience, the hypothesis is tested that patients with DS have functional bladder outflow obstruction secondary to detrusor sphincter dyssynergia.

This study comprised three parts: an initial retrospective review of case notes of existing patients, followed by a prospective community-based study of all patients with DS to assess the incidence and types of bladder dysfunction, and a final hospital-based assessment where a problem was identified following return of the questionnaire.

The retrospective study identified a high potential for renal injury with three out of seven patients requiring urinary diversion for dilated upper tracts secondary to bladder outflow obstruction. The prospective study identified a high incidence (77%) of bladder dysfunction with 68% having a history of wetting.

There is a potentially serious problem in children with DS that is not widely appreciated. We recommend that, at the very least, such children have a detailed history of bladder function taken, and where a problem is detected a urinary tract ultrasound scan should be performed.

Children with Down's syndrome present with more speech and language impairments then their typically developing peers, but impairments specific to the syndrome have yet to be identified. The range of communication impairments is similar to that encountered in the general paediatric population. Some may experience difficulties with the content (semantics) or the form (grammar, phonology) of the language, or with its use in interpersonal communication (pragmatics). Difficulties may also arise with speech intelligibility, voice and fluency. This article outlines some of the constraints on the development of communication skills encountered by infants and children with Down's syndrome. It provides some suggestions to limit the impact of such constraints and refers the reader to accessible sources for further information.