Feeding problems and gastrointestinal diseases in Down syndrome

Ravel, Aimé; Mircher, Clotilde; Rebillat, Anne Sophie; Cieuta‐Walti, Cécile; Mégarbané, André

doi:10.1016/j.arcped.2019.11.008

Cited by 38 publications

(25 citation statements)

References 54 publications

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“…On the other hand, the rates of cryptorchidism (7.47%) and gastrointestinal malformations (7.08%) were similar to those previously reported (Chew and Hutson 2004; Ravel et al . 2020).…”

Section: Discussionmentioning

confidence: 99%

Medical conditions of children and young people with Down syndrome

Valentini

Camillo

Mirante

et al. 2021

J intellect Disabil Res

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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.

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“…On the other hand, the rates of cryptorchidism (7.47%) and gastrointestinal malformations (7.08%) were similar to those previously reported (Chew and Hutson 2004; Ravel et al . 2020).…”

Section: Discussionmentioning

confidence: 99%

Medical conditions of children and young people with Down syndrome

Valentini

Camillo

Mirante

et al. 2021

J intellect Disabil Res

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show abstract

“…Differential diagnoses include congenital stenosis or post esophageal atresia repair, gastroesophageal reflux disease, eosinophilic esophagitis, unknown caustic ingestion, and few other rarer causes. All of these conditions should be investigated in patients with DS and esophageal stricture, considering the high incidence of congenital gastrointestinal malformations, gastrointestinal reflux, and intellectual disability (with possible unrecorded foreign bodies or caustic ingestion) ( 62 ). In our case, the proximal esophageal stricture was considered compatible with CD, although histology was not specific and the response to anti-inflammatory treatments was poor, requiring endoscopic dilation.…”

Section: Discussionmentioning

confidence: 99%

The Clinical Spectrum of Inflammatory Bowel Disease Associated With Specific Genetic Syndromes: Two Novel Pediatric Cases and a Systematic Review

et al. 2021

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Background and Aims: Inflammatory bowel disease (IBD) is a typical polygenic disorder and less frequently shows a monogenic origin. Furthermore, IBD can originate in the context of specific genetic syndromes associated with a risk of autoimmune disorders. We aimed to systematically evaluate the prevalence of IBD in specific genetic syndromes and to review the clinical characteristics of the published cases.Methods: According to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, studies describing patients with IBD and a genetic syndrome and/or studies indicating the prevalence or incidence of IBD in subjects with a genetic syndrome were included.Results: Forty-six studies describing a total of 67 cases of IBD in six genetic syndromes and two personally assessed unpublished cases were included in the review. The majority of cases were associated with Turner syndrome (TS) (38 cases), Down syndrome (DS) (18 cases) and neurofibromatosis type 1 (NF1) (8 cases). Sporadic cases were described in DiGeorge syndrome (2), Kabuki syndrome (2), and Williams syndrome (1). The prevalence of IBD ranged from 0.67 to 4% in TS and from 0.2 to 1.57% in DS. The incidence of IBD was increased in TS and DS compared to the general population. Eight cases of IBD in TS had a severe/lethal course, many of which described before the year 2000. Two IBD cases in DS were particularly severe.Conclusion: Evidence of a greater prevalence of IBD is accumulating in TS, DS, and NF1. Management of IBD in patients with these genetic conditions should consider the presence of comorbidities and possible drug toxicities.Systematic Review Registration: PROSPERO, identifier: CRD42021249820

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“…Relevant is also the incidence of autoimmune diseases. Our research found a review in which only two cases with Down syndrome were associated to autoimmune chronic active hepatitis and autoimmune PSC[ 32 ]. Because the case reported have been excluded for publication over the years, we evaluated the aforementioned review, which is the only publication in the period considered, that referred to cases of AIH and Down syndrome.…”

Section: Discussionmentioning

confidence: 99%

Autoimmune hepatitis in genetic syndromes: A literature review

Capra¹,

Chiara²,

Briuglia³

2021

WJH

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Genetic syndromes represent relevant and rare diseases. These conditions include a large amount of epidemiological, pathogenetic and clinical features. However, a systematic approach to genetic syndromes is often prevented by the rareness of these diseases. So, although clinical features are usually precisely defined, nowadays more uncommon associations between genetic syndromes and internal medicine related diseases have been insufficiently studied. Autoimmune hepatitis (AIH) is a chronic liver disease caused by loss of tolerance to hepatocyte-specific auto-antigens. Conversely, a better knowledge about specific genetic syndromes in which AIH is more frequent could be important in the clinical management of patients, both for an early diagnosis and for a prompt therapy. Furthermore, a systematic approach could explain if onset, clinical course, and response to treatment of AIH are typical for specific genetic syndromes. We took in consideration all the scientific articles reported in PubMed in the last 10 years, from 2010 to 2020. The purpose of this review is to explore the prevalence of AIH in genetic syndrome, but also to suggest new classification, that could be useful for pathogenetic hypothesis and clinical approach to genetic syndrome. From the 139 publications selected using keywords “autoimmune hepatitis” and “genetic syndrome”, 30 papers (21.6%) respected the chosen inclusion criteria, reporting the association between AIH in patients with a genetic syndrome. We have collected in all 47 patients with AIH and genetic syndrome, and with median age of 12.6-year-old. We suggest that when a patient presents a clinical picture of cryptogenic chronic hepatitis, that is unexplained, it is useful to explore differential diagnosis of AIH associated with genetic syndrome. Given the clinical relevance of this topic, further reports are needed to demonstrate our hypothesis and collect new evidence in this field.

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Feeding problems and gastrointestinal diseases in Down syndrome

Cited by 38 publications

References 54 publications

Medical conditions of children and young people with Down syndrome

Medical conditions of children and young people with Down syndrome

The Clinical Spectrum of Inflammatory Bowel Disease Associated With Specific Genetic Syndromes: Two Novel Pediatric Cases and a Systematic Review

Autoimmune hepatitis in genetic syndromes: A literature review

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