Achalasia and Down's Syndrome: Coincidential Association Or Something Else?

Zárate, Natalia; Mearin, Fermı́n; Gil-Vernet, J.M.; Camarasa, F; Malagelada, J.-R.

doi:10.1111/j.1572-0241.1999.01161.x

Cited by 46 publications

(10 citation statements)

References 21 publications

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“…There are increasing reports on EA in DS patients [1,3]. In our case, the manometry could not confirm EA and showed abnormal esophageal peristaltic contraction, suggesting that the diagnosis was esophageal motor disorder, although clinically and radiologically the patient was EA.…”

Section: Discussioncontrasting

confidence: 62%

“…In our case, the manometry could not confirm EA and showed abnormal esophageal peristaltic contraction, suggesting that the diagnosis was esophageal motor disorder, although clinically and radiologically the patient was EA. There are also increasing reports on association of DS and esophageal motility disorders other than EA [1,3,8], mentioning that the esophageal motility disorders may be primary or secondary to GER. Hillemeier et al…”

Section: Discussionmentioning

confidence: 99%

“…Esophageal achalasia (EA) is an uncommon esophageal motor disorder that has been associated with conditions as diverse as Parkinson's disease and depressive disorders, but the association of EA with DS is rare [3], especially in children. We report a child with DS and esophageal dysmotility (most probably EA) who had unique operative findings, and was treated successfully.…”

Section: Introductionmentioning

confidence: 99%

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Down's syndrome and esophageal achalasia: a rare but important clinical entity

et al. 2005

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We report a case of esophageal achalasia (EA) in Downa9s syndrome. A six-year-old girl with DS was referred from another hospital for further management of dysphagia and growth retardation (weight 16.3 kg, height 105.4 cm: both below -1.5 SD). Dysphagia commenced when she was one year old and gastroesophageal reflux (GER) was diagnosed when she was four. Routine investigations suggested EA or esophageal stenosis secondary to GER. While dissecting the esophago-gastric junction in preparation for a Heller-Dor esophagocardiomyotomy (HD-ECM), the crus of the diaphragm was noted to be narrowed, severely fibrosed and attached to the lower esophagus which was covered by dense scar tissue suggestive of an old esophageal perforation secondary to GER esophagitis. A Nissen fundoplication was performed, but dysphagia persisted postoperatively, and a narrowing 2 cm above the fundoplication wrap with proximal dilatation was found on repeated barium studies. At re-laparotomy, the fundoplication was unwrapped and HD-ECM performed. Eight months postoperatively, she is well with no recurrence. EA must be considered in any DS patient presenting with dysphagia.

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Section: Discussioncontrasting

confidence: 62%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Down's syndrome and esophageal achalasia: a rare but important clinical entity

et al. 2005

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“…In addition to oropharyngeal problems, a higher prevalence of esophageal motor disorders, particularly abnormalities in esophageal peristalsis and lower esophageal sphincter function in people with DS, is widely reported in the literature [13][14][15][16][17][18]. In their comparative study of 58 DS adults and 38 adults without DS, Zarate et al [15] identified a higher prevalence of achalasia in the DS subjects, symptoms of which included dysphagia for solids and liquids, regurgitation, and chest pain.…”

Section: Eating Drinking and Swallowing In Downõs Syndromementioning

confidence: 92%

The Impact of Aging on Eating, Drinking, and Swallowing Function in People with Down’s Syndrome

Lazenby¹

2007

Dysphagia

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Many people with Down's syndrome (DS) experience eating, drinking, and swallowing (EDS) difficulties, which can potentially lead to life-threatening conditions such as malnutrition, dehydration, and aspiration pneumonia. As the life expectancy of people with DS continues to improve, there is an increasing need to examine how the aging process may further affect these conditions. Published research studies have yet to address this issue; therefore, this article draws on the literature in three associated areas in order to consider the dysphagic problems that might develop in aging people with DS. The areas examined are EDS development in children and adolescents with DS, EDS changes associated with aging, and EDS changes associated with dementia of the Alzheimer's type (DAT) because this condition is prevalent in older adults with DS. This article concludes that unlike in the general population, the aging process is likely to cause dysphagic difficulties in people with DS as they get older. Therefore, it is suggested that longitudinal studies are needed to examine the specific aspects of EDS function that may be affected by aging and concomitant conditions in DS.

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“…Symptoms may be subtle and whereas adult patients mainly present with dysphagia, the chief clinical features in children were respiratory symptoms and growth retardation [113].…”

Section: Down Syndrome and Achalasiamentioning

confidence: 99%

Down syndrome and the enteric nervous system

Moore

2008

Pediatr Surg Int

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Down syndrome (DS) is the most common chromosomal abnormality occurring in humans. Up to 77% of DS children have associated gastrointestinal (GI) abnormalities, which may be structural or functional in nature. Functional disturbances may, in turn, affect the outcome of corrective surgical procedures, prompting to caution. It is becoming clear that the processes affecting the enteric nervous system (ENS) in DS not only affect the micro-anatomy but also nerve function, and there is some histological evidence of ENS variations in both human and DS animal models. This suggests that developmental disorders of the ENS are probably fundamental to the functional GI disturbances encountered in patients with DS. The anomalous brain development, function and resulting intellectual impairment associated with DS appears to result from the genetic imbalance created by the trisomy of chromosome 21. The possible links between the brain, GI and ENS involvement are not as yet entirely clear. Neurotropic factors affecting brain development during embryogenesis are probably interlinked with ENS development, but the precise mechanism of how this occurs has yet to be established. This study explores what is known about the ENS dysfunction in DS and reviews the possible importance of chromosome 21 located and other genes in its etiology. Functional motor disturbances of the esophagus and colon are not uncommon and may be congenital or acquired in nature. The most prominent of these include esophageal dysmotility syndromes (e.g. achalasia, gastroesophageal reflux, dysphagia) as well as a higher incidence of chronic constipation and Hirschsprung's disease (HSCR) (2-15%) occurring in association with DS. Chromosome 21 itself is thought to be the site of a modifier gene for HSCR. Recently identified candidate genetic mechanisms provide unique insights into the genetic background of the neurological and cognitive disorders associated with DS. Although the role of the triplicated chromosome 21 and genetic dosage remain important, the additional role of other chromosome 21 genes in the etiology of ENS developmental anomalies remains undetermined and requires ongoing research.

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Achalasia and Down's Syndrome: Coincidential Association Or Something Else?

Cited by 46 publications

References 21 publications

Down's syndrome and esophageal achalasia: a rare but important clinical entity

Down's syndrome and esophageal achalasia: a rare but important clinical entity

The Impact of Aging on Eating, Drinking, and Swallowing Function in People with Down’s Syndrome

Down syndrome and the enteric nervous system

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