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
Recommended Reading
1 Abeleira, M.T., Pazos, E., Limeres, J. et al. (2016). Fixed multibracket dental therapy has challenges but can be successfully performed in young persons with Down syndrome. Disabil. Rehabil. 38: 1391–1396.
2 Ferreira, R., Michel, R.C., Greghi, S.L. et al. (2016). Prevention and periodontal treatment in Down syndrome patients: a systematic review. PLoS One 11: e0158339.
3 Hickey, F., Hickey, E., and Summar, K.L. (2012). Medical update for children with Down syndrome for the pediatrician and family practitioner. Adv. Pediatr. 59: 137–157.
4 Limeres Posse, J., López Jiménez, J., Ruiz Villandiego, J.C. et al. (2016). Survival of dental implants in patients with Down syndrome: a case series. J. Prosthet. Dent. 116: 880–884.
5 Mubayrik, A.B. (2016). The dental needs and treatment of patients with Down syndrome. Dent. Clin. North Am. 60: 613–626.
6 Nóvoa, L., Sánchez, M.D.C., Blanco, J. et al. (2020). The subgingival microbiome in patients with Down syndrome and periodontitis. J. Clin. Med. 9: 2482.
7 Outumuro, M., Abeleira, M.T., Caamaño, F. et al. (2010). Maxillary expansion therapy in children with Down syndrome. Pediatr. Dent. 32: 499–504.
8 Roizen, N.J. and Patterson, D. (2003). Down's syndrome. Lancet 361: 1281–1289.
3 Sensory Impairment 3.1 Visual Deficit
Section I: Clinical Scenario and Dental Considerations
Clinical Scenario
A 9‐year‐old girl attends your dental clinic for an oral examination. You observe that she has low insertion and thickening of the upper labial frenum in the interincisal region. This is associated with a midline diastema which the patient's mother wants corrected.
Medical History
Sphenoidal encephalocele repaired at birth
Blindness (complete loss of vision), panhypopituitarism and diabetes insipidus suspected to be postsurgical sequelae
Patent foramen ovale (resolved percutaneously at birth)
Bacterial meningitis at 3 months of age
Medications
Desmopressin
Hydrocortisone
Levothyroxine
Somatropin
Vitamin D3
Dental History
Regular dental attender
No history of previous dental treatment given using local anaesthesia
The previous dentist had noted the upper labial frenum was low/thickened but had recommended observation only
Patient brushes her teeth 3 times a day (supervised by her mother in the morning and evening)
Social History
Lives with her parents and her brother (3 years older than her, with no medical issues)
Family history: the patient's mother aborted a previous pregnancy as the foetus had severe heart disease
Mother is a nurse and is highly motivated to support and protect her daughter
Attends a mainstream school; assisted by a support teacher
Oral Examination
Excellent co‐operation during the oral examination
Mixed Angle class III malocclusion (hypoplasia of the superior maxilla and mandibular prognathism)
Thickened upper labial frenulum (Figure 3.1.1)
Upper midline, interincisal diastema
Excellent oral hygiene
Incipient/early caries in #36 and #46 (require restoration)
Deep caries in #85
Radiological Examination
Cone beam computed tomography confirms a fusion defect in the superior maxilla, associated with the presence of a cleft palate that had previously been undetected (Figure 3.1.2)
Structured Learning
1 Although the patient's blindness is likely to be a sequela of the surgery, what other causes should be excluded in liaison with the patient's physician?Following detection of the cleft palate, it is important to consider the presence of an underlying hereditary syndromeUnderlying syndromes