Sleep disordered breathing and ventilatory support in children with Down syndrome

Trucco, Federica; Chatwin, Michelle; Semple, Thomas; Rosenthal, Mark; Bush, Andy; Tan, Hui-Leng

doi:10.1002/ppul.24122

Cited by 54 publications

(63 citation statements)

References 27 publications

(38 reference statements)

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“…Consistent with previous research, swallowing dysfunction was common in this cohort of children with DS. Decreased airway protection resulting in DLP and/or aspiration was found in 31.9% of infants less than 6 months and in 51.3% of infants 6 to 12 months.…”

Section: Discussionsupporting

confidence: 91%

“…In a large observational study, Yang and colleagues found that the risk of death from aspiration, pneumonia, or influenza for individuals with DS was more than seven times that of the general population . Multiple factors contribute to this risk including the high prevalence of congenital airway and lung abnormalities, obstructive sleep apnea, pulmonary hypertension, and dysphagia . Bronchiectasis, structural lung disease, and airway inflammation can be seen in any child with dysphagia and chronic aspiration from a young age .…”

Section: Discussionmentioning

confidence: 99%

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Associations between age, respiratory comorbidities, and dysphagia in infants with down syndrome

Jackson

Maybee

Wolter‐Warmerdam

et al. 2019

Pediatric Pulmonology

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Objectives: Children with Down syndrome (DS) have a high risk of dysphagia and the pediatric pulmonologist may be involved in diagnosis and management. The objective of this study is to evaluate the associations between age, dysphagia, and medical comorbidities in young children with DS. We hypothesized that swallow study findings are more likely to change in younger infants and that medical comorbidities may be associated with dysphagia. Study design: Results of videofluoroscopic swallow studies (VFSS) and fiberoptic endoscopic evaluation of swallowing (FEES) from 2010 to 2016 were collected retrospectively in children with DS with initial swallow study at less than 12 months of age. Results were analyzed for findings and change based on age at initial study, reason for referral, and medical comorbidities. Results: One hundred eleven infants with 247 VFSS and 14 FEES were included. Deep laryngeal penetration and/or aspiration were found in 31.9% of infants less than 6 months and 51.3% of infants 6 to 12 months. Children with initial swallow study performed at greater than or equal to 6 months of age were more likely (80.0%) to have unchanged findings on follow‐up study compared to children imaged at less than 6 months (35.3%). Laryngomalacia, pulmonary hypertension, pneumonia, and congenital cardiac disease were associated with dysphagia. Conclusion: We confirmed that dysphagia is common in infants with DS and comorbidities and provided preliminary evidence that swallow study findings may be more likely to change in children tested under 6 months of age. Providers should consider that results for instrumental swallow studies may change, particularly if the test was completed on a young infant.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Associations between age, respiratory comorbidities, and dysphagia in infants with down syndrome

Jackson

Maybee

Wolter‐Warmerdam

et al. 2019

Pediatric Pulmonology

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“…However, patients with DS also have a high prevalence of CSA, nocturnal hypoventilation, and low overnight oxygen saturation compared with the general population. 6 The presence of SDB in patients with PWS is equally well recognized. CSA and hypoventilation are mainly seen in infants, while OSA is significantly more prevalent in older children (>2 years).…”

Section: Discussionmentioning

confidence: 99%

Familial Sleep Disorders in Unknown Genetic Syndrome

et al. 2019

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Sleep-disordered breathing (SDB) is common in children, especially in those with congenital or genetic diseases. The factors involved include obstructive sleep apnea, disrupted rapid eye movement sleep, and central hypoventilation. Diagnosing and treating SDB in these children have a positive impact on the quality of life of them and their families, reducing the risk of both further impairment of cognitive abilities and cardiopulmonary complications. We report a familial case of SDB with central hypoventilation, in which identification of the disorder in the younger sister led to the unfortunately late diagnosis and treatment of the same condition in the older sister.

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“…The age of the mother is an important risk factor for the nondisjunction of chromosome 21, so DS occurs more frequently in older mothers (Patterson, ; Sherman, Freeman, Allen, & Lamb, ). The phenotype of DS is variable (Patterson, ), and patients present clinical and physical features including facial dysmorphology, low muscle tone, short stature, intellectual disability and sleep‐disordered breathing (Karmiloff‐Smith et al, ; Trucco et al, ). Congenital heart diseases (CHD) are considered to be the most important clinical phenomenon in children with DS (Pfitzer et al, ).…”

Section: Introductionmentioning

confidence: 99%

A male Down syndrome with two normal boys: Cytogenetic, paternity and andrological investigations

Jazayeri

Gorjizadeh²

2020

Andrologia

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Down syndrome is the most common autosomal chromosome anomaly with several medical abnormalities and intellectual disability, occurring in about of 1:1,000 to 1:1,100 infants. Many pregnancies in women with Down syndrome produce children both with normal and with trisomy 21, whereas males are infertile. However, Down syndrome males are not always infertile and this is not global. Here we reported a 36‐year‐old man with proved nonmosaic trisomy 21 fathered two normal boys. Paternity analysis using 26 microsatellite loci confirmed that Down syndrome male is the biological father of his two normal boys. Serum LH, FSH, testosterone and 17‐OH progesterone were all in the normal range in this father with Down syndrome. To the best of our knowledge, this is the second report of one man with Down syndrome who has two normal children in the world. The current study not only supports the rare evidence of the fertility of males with Down syndrome but also highlights the caution in advising people responsible for the care of adults with this condition about possible fertility and transmission of sexual diseases as well.

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Sleep disordered breathing and ventilatory support in children with Down syndrome

Abstract: Our results confirm the high prevalence of OSAS in children with DS. A significant number also have low baseline saturations, central apnoeas, and nocturnal hypoventilation. Contrary to popular belief, more than half of children with DS had satisfactory adherence to respiratory support.

Cited by 54 publications

References 27 publications

Associations between age, respiratory comorbidities, and dysphagia in infants with down syndrome

Associations between age, respiratory comorbidities, and dysphagia in infants with down syndrome

Familial Sleep Disorders in Unknown Genetic Syndrome

A male Down syndrome with two normal boys: Cytogenetic, paternity and andrological investigations

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