Multiorgan involvement and management in children with Down syndrome

• Published in: Acta Paediatrica Vol. 109; no. 6; pp. 1096 - 1111
• Main Authors: Lagan, Niamh, Huggard, Dean, Mc Grane, Fiona, Leahy, Timothy Ronan, Franklin, Orla, Roche, Edna, Webb, David, O’ Marcaigh, Aengus, Cox, Des, El-Khuffash, Afif, Greally, Peter, Balfe, Joanne, Molloy, Eleanor J.
• Format: Journal Article
• Language: English
• Published: Norway Wiley Subscription Services, Inc 01.06.2020
• Subjects: Apnea; Autism; Autoimmune diseases; Cardiovascular disease; Celiac disease; Child; Children; Comorbidity; Congenital defects; Congenital diseases; Coronary artery disease; Diabetes mellitus; Down syndrome; Down Syndrome - complications; Down Syndrome - epidemiology; Down Syndrome - therapy; Down's syndrome; Epilepsy; health surveillance guidelines; Hearing Tests; Heart Defects, Congenital; Heart diseases; Humans; Hypertension; Hypertension, Pulmonary; Immune system; Infant; Infant, Newborn; Infants; Literature reviews; multiorgan Involvement; Neurodevelopment; Pharynx; Pulmonary hypertension; Respiratory tract diseases; screening; Seizures; Sleep; Sleep disorders; Thyroid; Trisomy; Trisomy 21; Trisomy 21; multiorgan Involvement; screening; down syndrome; health surveillance guidelines
• ISSN: 0803-5253; 1651-2227
• DOI: 10.1111/apa.15153

Aim To review multiorgan involvement and management in children with Down syndrome (DS). Methods A literature review of articles from 1980 to 2019 using the MEDLINE interface of PubMed was performed using the following search terms‐ [Down syndrome] or [Trisomy 21] AND [Cardiology] or [Respiratory] or [neurodevelopment] or [epilepsy] or [musculoskeletal] or [immune system] or [haematological] or [endocrine] or [gastrointestinal] or [ophthalmological] or [Ear Nose Throat] or [dermatology] or [renal]. Results Congenital heart disease particularly septal defects occur in over 60% of infants with DS and 5%‐34% of infants develop persistent pulmonary hypertension of the newborn irrespective of a diagnosis of congenital heart disease. Early recognition and management of aspiration, obstructive sleep apnoea and recurrent lower respiratory tract infections (LRTI) could reduce risk of developing pulmonary hypertension in later childhood. Children with DS have an increased risk of autistic spectrum disorder, attention deficit disorder and epilepsy particularly infantile spasms, which are associated with poor neurodevelopmental outcomes. Congenital anomalies of the gastrointestinal and renal system as well as autoimmune diseases, coeliac disease, arthropathy, thyroid dysfunction fold diabetes mellitus and dermatological conditions are more common. Hearing and visual anomalies are also well recognised association with DS (Table 1). Conclusion Children with DS are at an increased risk of multiorgan comorbidities. Organ‐specific health surveillance may provide holistic care for the children and families with DS throughout childhood.