Lip fissures (Figure 2.3.4a)
Macroglossia or pseudomacroglossia (Figure 2.3.4b)
Lingual protrusion
Fissured tongue
Increased incidence of gag reflex
Dental agenesis (especially of the maxillary lateral incisors)
Tooth eruption delayed
Tooth morphology abnormalities (microdontia, enamel hypoplasia and hypocalcification)
Low prevalence of caries
Severe periodontal disease (Figure 2.3.4c)
Early tooth loss (compromised immune system and teeth with short conical roots lead to early loss of teeth from periodontal disease)
Bruxism
Hypoplasia of the middle third of the face, with Angle class III malocclusion and posterior cross‐bite (Figure 2.3.4d)
Dental Management
The treatment plan will be determined by the patient's oral manifestations, degree of co‐operation and the presence of comorbidities (Table 2.3.1; Figure 2.3.5)
Orthodontic therapy can be performed in selected casesTable 2.3.1 Considerations for dental management.Risk assessmentPostoperative infections (immunological deficiencies)Risk of bacterial endocarditis (congenital heart disease)Variable co‐operationSpeech disorders and intelligibilityHearing lossAtlantoaxial instabilityCriteria for referralMost patients can be treated in a conventional dental clinicReferral to a specialised clinic or hospital centre is determined mainly by the patient's co‐operation and extent of comorbidities (e.g. severe heart disease)Access/positionPrevent neck hyperextension (atlantoaxial instability)Access to the teeth may be impeded by lingual protrusionMinimise waiting timeConsider shorter sessionsCommunicationAdapt in relation to cognitionIf hearing aids are worn, ensure these are present and switched on at the dental appointmentsConsent/capacityCapacity assessment is required (should be decision specific)Discussion of risks should include those related to comorbidities (e.g. predisposition to infections) and the level of oral hygieneDementia may occur at an early age and have an additional impact on reducing capacityAnaesthesia/sedationLocal anaesthesiaThis may be challenging to administer in relation to patient co‐operation, altered anatomy and lingual protrusionSedationThe nasal hood used for inhalational sedation may not fit well due to hypoplasia of the mid‐third of the faceAssociated comorbidities should be assessed, including the degree of hypotonia, associated cardiac disease and respiratory dysfunctionGeneral anaesthesiaDifficulties in endotracheal intubation (hypoplasia of the middle third of the face, short neck, adenoid hypertrophy, atlantoaxial subluxation)Increased risk due to cardiac complications (due to underlying heart disease and/or anaemia), respiratory dysfunction and infections (increased susceptibility)Dental treatmentBeforeEarly periodontal treatment and the use of adjuvant antimicrobial mouthwashes are effective in improving periodontal healthPulpal treatments in primary dentition are not recommendedThe prognosis for orthodontic therapy is determined by the patient's degree of collaboration, the level of oral hygiene, the presence of parafunctions and the state of the periodontiumRehabilitation with fixed prosthesis can be performed if the oral hygiene is optimal, the dental morphology is appropriate and the periodontal state is acceptable; otherwise, opt for a removable prosthesis (not always well accepted by patients)Stimulating palatal plaques combined with orofacial physical therapy and speech therapy exercises improves muscle tone and orofacial abnormalitiesDuringConsider the use of tongue guards, supplemented by high‐volume suction to improve vision/access to the dentitionAfterOrthodontic treatments, with both removable and fixed multibracket appliances, usually take longer than in the general population (slow activation rhythm), and complications are more frequent (particularly traumatic ulcers)The prognosis for dental implants in these patients is poorer than in the general population, with an estimated failure rate of 20% (generally, the losses occur before completing the prosthetic rehabilitation)Drug prescriptionConsider drug interactions with medications used to treat comorbidities (e.g. avoid macrolide antibiotics for patients taking antihypertensives such as verapamil/diltiazem)Education/preventionOral hygiene educationInvolve the relatives and care‐giversIncreased frequency of reviews (every 3 months) to closely monitor periodontal diseasePeriodic calculus removalDietary counselling
Section II: Background Information and Guidelines
Definition
Down syndrome is a congenital disorder of chromosomal origin characterised by intellectual disability, systemic abnormalities and a particular phenotype. The estimated prevalence is 1 case per 800 live births.
Aetiopathogenesis
The mother's age (>35 years) is considered a risk factor
In 95% of cases, the syndrome is due to the presence of an additional copy of chromosome 21 in all cells (‘trisomy 21’)Figure 2.3.5 Orthodontic therapy can be successfully performed in selected patients.
In 5% of the remaining cases, the syndrome expresses a translocation or mosaicism
Clinical Presentation
Apart from the classic facial characteristics (85%), multiple systems may be affected in Down syndrome (Table 2.3.2)
Diagnosis
Suspected prenatal diagnosis (imaging techniques and invasive tests) is confirmed with the study of foetal cell DNA
In newborns, the diagnosis is suspected based on the phenotypic characteristics and is confirmed with karyotyping
Management
Physical therapy to combat hypotonia
Early stimulation programs (including speech therapy)
Treatment of comorbidities
Special education and occupational therapy
Prognosis
Median age of death has increased from 25 years in the 1980s to 55 years, with many living into their 60s and 70s
Mortality by infectious diseases, especially pneumonia, is 12‐fold greater than in the general population
A World/Transcultural View
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