Medical conditions of children and young people with Down syndrome

Abstract

AbtractBackgroundThe life expectancy of people with Down syndrome (DS) has significantly increased in the last decades. We describe the congenital malformations and main comorbidities of a cohort of children and young people with DS and analyse their differences according to age and gender groups.MethodsThis retrospective cross‐sectional study was conducted at DS centre of Bambino Gesù Children's Hospital in Rome (Italy). The period for reviewing all electronic health records ran from July 2016 to September 2017. We collected data on clinical conditions and compared them with the general paediatric population. Moreover, we compared the main comorbidities, dental diseases and body mass index data between age groups.ResultsSeven hundred sixty‐three children and young people with DS included in this study were aged 7.45 ± 5.49 years. Gender distribution included 58.19% male patients. The majority of our population (71.04%) came from central regions of Italy. Respiratory diseases (19%), congenital heart defects (72.23%), malocclusions (58.62%), astigmatism (20.31%), farsightedness (16.51%), near‐sightedness (12.19%) and autoimmune hypothyroidism (3.28%) were more frequent in our population compared with the typical paediatric population. Upper respiratory tract infections and underweight were significantly more frequent in the youngest children, whereas dental diseases, refractive errors, obesity and autoimmune hypothyroidism increased over age.ConclusionsChildren and young people with DS present a high prevalence of potentially treatable medical conditions making multidisciplinary teams a mandatory need for this population.

Phenotyping Down syndrome: discovery and predictive modelling with electronic medical records

“…Consistent with prior reports (e.g. Alexander et al 2016;Valentini et al 2021;Baksh et al 2023; see also Bull et al 2022), individuals with DS were found to exhibit high prevalence of a range of health conditions, including circulatory complications, digestive and gastrointestinal issues, metabolic and endocrine issues, sensory difficulties (vision and hearing), mental and neurological concerns and others. For our sample, circulatory conditions were particularly found as highly prevalent among DS cases, as differences in heart formation at birth among many individuals with DS have been linked to various cardiac complications, including heart failure, (pulmonary) hypertension and atrioventricular block, aside from CHD (Bush et al 2018).…”

“…2021; Valentini et al . 2021). Unique to our current study is that these health conditions remain prevalent in DS cases even when compared with other IDDs, highlighting their distinct or specific clinical features (Results S1).…”

“…Recently, Valentini et al . (2021) gathered a 1‐year subset of EMRs from 763 individuals with DS after carefully matching for age and sex. In addition to corroborating previous findings from small sample sizes, these candidate EMR studies in DS offer a nuanced examination into the prevalence and incidence rates across a range of co‐occurring health conditions.…”

Emotional and behavioral features associated with subclinical hypothyroidism in children and adolescents with Down syndrome

“…DS is associated with increased risk of several medical issues, such as congenital heart disease, obstructive sleep apnoea, celiac disease, and endocrine abnormalities, including thyroid dysfunctions ( Antonarakis et al, 2020 ). Individuals with DS exhibit a range of thyroid dysfunctions that encompass congenital hypothyroidism, subclinical hypothyroidism (SH), acquired hypothyroidism (autoimmune/non autoimmune), and hyperthyroidism ( Pierce et al, 2017 ; Valentini et al, 2021 ). For example, higher rates of hypothyroidism have been documented, with estimated prevalence of 23.5% in pediatric age and 39–61% in adult age ( Carroll et al, 2008 ; Tsou et al, 2020 ).…”

Increased Autoimmunity in Individuals With Down Syndrome and Moyamoya Disease

“…There is a well-established association between Down syndrome (DS) and the development of moyamoya syndrome (MMS) (7,15,16) with particularly high rates in children (17). Higher rates of both autoimmune disease and thyroid autoantibodies in this population raise additional concerns that these factors may yield a greater risk of the development of MMS although this has never been studied (18)(19)(20)(21)(22)(23)(24).…”