Читать книгу A Practical Approach to Special Care in Dentistry - Группа авторов - Страница 118

 There is racial disparity in the mortality of patients with Down syndrome; this may be related to healthcare access, for example early referral to cardiology to allow timely surgical intervention

 Social acceptance of the phenotypic appearance is variable: parents surveyed in sub‐Saharan Africa demonstrated favourable attitudes towards plastic surgery for their children with Down syndrome, although they admitted their lack of knowledge about the procedure

 Even after several decades, the use of orofacial stimulation therapy has not become widespread and is applied on a regular basis only in a number of South American and northern European countriesTable 2.3.2 Most common systemic conditions in Down syndrome.SystemsConditionsCardiacCongenital heart defects are common (40–50%)Endocardial cushion defect (43%)Ventriculoseptal defect (32%)Secundum atrial septal defect (10%)Tetralogy of Fallot (6%)Isolated patent ductus arteriosus (4%)HaematologicalThe risk of leukaemia is 1–1.5%, much higher than the general population (10–15 times increased risk)65% of newborns have transient myelodysplasiaImmunologicalAbnormal IgA levelsAbnormal T‐cell functionDysfunctional and short‐lived neutrophilsInfectionsIncreased risk (×12) of developing infectious diseases, including:Respiratory (pneumonia)GastrointestinalMucosalDermalOral infections (periodontal disease, candidal infection, acute necrotising ulcerative gingivitis)GastrointestinalGastro‐oesophageal reflux disease (GORD)VomitingDuodenal atresia or stenosis, associated with annular pancreas in 2.5% of casesOesophageal atresiaHirschsprung disease (blockage of colon)Imperforate anusCoeliac disease (5–16‐fold increase compared to general population)EndocrineHypothyroidism (~15%)Increased incidence diabetesDecreased fertilityReproductionWomen with Down syndrome are fertile and may become pregnantNearly all males with Down syndrome are infertile due to an impairment of spermatogenesisNeuropsychiatric disordersIntellectual disability (100%)Average prevalence of dementia 50% (7–50%); risk increases when the person is over the age of 35Tonic–clonic seizuresPsychiatric disorders:Obsessive–compulsive disorderAutismAttention deficit hyperactivity disorderTourette syndromeDepressive disorderSkeletalShort stature (85%)Increased joint flexibility (80%)SpineAtlantoaxial instability (14%), with excessive mobility of the atlas (C1) and axis (C2); may lead to subluxation of the cervical spine/spinal cord compressionPelvic dysplasia (70%)SkullBrachycephaly (80%), microcephaly, sloping foreheadLarge fontanelles with late closure, patent metopic sutureAbsence of frontal and sphenoid sinusesHypoplasia of maxillary sinuses, hypoplastic midface with relative prognathiaNoseHypoplastic nasal bone and flat nasal bridge are typical characteristicsHandsShort and broad handsClinodactyly of the fifth fingers (45%)‘Simian’ single flexion crease (20–40%)FeetWide gap between 1st and 2nd toesMusclesHypotonia (80%)EyesUp‐slanting palpebral fissures, bilateral epicanthal foldsBrushfield spots (35–90%)Refractory error (35–76%)Strabismus (25–57%)Nystagmus (18–22%)Cataract (5% of newborns)EarsSmall ears with overfolded helicesHearing loss (75%)Otitis mediaIncreased risk of retinoblastomaSkinPsoriasisEczemaPalmoplantar hyperkeratosisSeborrheic dermatitisOthersObstructive sleep apnoeaHypotoniaPremature ageingObesityFine, soft hair