Wijayaratne et al., 202148
|
Case series-BMIZ score; sleep symptoms questionnaires |
64 (DS) |
3–19 years |
- |
Despite not being referred for clinical sleep assessment, 42% of children with DS recruited from the community had moderate/severe OSA. |
There were no differences in the quality-of-life behavior, daytime functioning, and sleep symptom questionnaires although the clinical group had a higher body mass index (BMI Z score) and overt signs of obesity. These results highlight the importance of PSG screening in all children with DS. |
Caloway et al., 202063
|
Case series (Hypoglossal nerve stimulation-HGN) |
20 (DS) |
10-21 years |
2 months |
All 20 children were implanted with no long-term complications. We report two interval adverse events, both of which were corrected with revision surgery. Twenty participants completed the 2-month polysomnogram, with median percent reduction in titration AHI of 85% (interquartile range=75–92%). The median nightly usage for these children was 9.21 hours/night. There was a median change in the OSA-18 score of 1.15, indicating a moderate, yet significant, clinical change |
HGN stimulation was safe and effective in the study population. Two minor surgical complications were corrected surgically. Overall, these data suggest that pediatric HGN stimulation appears to be a safe and effective therapy for children with DS and refractory severe OSA. |
Lee et al., 202018
|
Case series-PSG and FSIQ |
30 (DS) |
11.3 years |
- |
The presence of OSA in children with DS was 80% in the 6 to 18 age group, with 62.5% in the 6 to 12 age group; In individuals aged 6 and 12 years old, both OSA and% REM were associated with lower scores on the WPPSI-R Vocabulary test; |
OSA can be highly prevalent in children with DS in the community. Among children with DS 6 and 12 years of age, OSA, and % REM were associated with their language function. |
Waters et al., 202022
|
Randomized Clinical TrialPSG |
152 (DS) |
5.0 (1st PSG) 8.2 (2nd PSG) years |
3.5 years |
In a tertiary sleep unit, a full spectrum of sleep-disordered breathing in Down syndrome was seen from infancy onwards. Children having only 1 study were more likely to have a normal or mild result than those having ≥2. Studies were more often severe in children age <2 compared to those ≥2 years. After age 2 years, OSA severity increased with age. Studies evaluating the effects of surgery (most often adenotonsillectomy) showed resolution of disease to mild or normal in 53.3%. |
Children having only one study were more likely to have normal results. Children with multiple studies reflected disease surveillance, including follow-up after treatment interventions. |
Nerfeldt et al., 202021
|
PSG before and after OSA surgical treatment |
138 (DS) |
6.1 years |
- |
The prevalence of OSA was 82.6 and 39.9% had severe OSA (AHI: 7.6); comorbidities found were ear disease (60%), circulatory disease (51%) and endocrine disease (39%); 33 patients undergoing postoperative PSG had a residual prevalence of moderate or severe OSA of 63.6%; Pre and postoperative PSG of patients with ATE and APP presented median AHI changed from 21.1 to 12.4 and median OSA-18 from 54.0 to 35.0. |
Uncertain surgical efficiency was indicated and no significant difference in results for ATE and APP was demonstrated. The authors point out that the frequency of PSG in the postoperative period was low and not systematic and that the groups were uneven and small. |
Anand et al., 202130
|
PSG, Child Behavior Checklist (CBCL), developmental quotient (DQ) |
53 (DS) |
<18 years |
- |
Of 53 subjects (three to 11.8 years), 51 (96%) were found to have obstructive sleep apnea (OSA). In both three to five year and six-to-12-year age groups, there was a statistically significant positive correlation between the CBCL scores and the AHI (rho=0.77 and 0.83, respectively). There was a statistically significant negative correlation between the DQ and the AHI (rho=-0.62). In multiple linear regression, AHI was the only independent variable that was associated with CBCL and DQ. |
This study provides robust evidence that OSA can negatively influence the development and behavior in children with Down syndrome as in typically developing children. Moreover, with increasing severity of OSA, children with Down syndrome have more behavioral abnormalities, especially attention deficit and hyperactivity, and also have poorer development scores. |
Chamseddin et al., 201945
|
PSG |
106 (DS) |
2.0-18 years |
6 years |
90% of children had ≥1 medical comorbidities; 95 (90%) patients had OSA; and 46 (44%) had severe OSA. Mean SaO2 nadir was lower among obese than in nonobese children (80 vs 85%). Obese versus nonobese patients had a higher prevalence of severe OSA (56 vs 35%). The multivariable model showed that severe OSA was associated only with weight. |
Obese children with DS are at a high risk for severe OSA, with weight as the sole risk factor. The results of this study show the importance of monitoring the weight of children with DS and counseling parents of children with DS about weight loss |
Howard et al., 202061
|
PSG and oAHI |
24 (DS) |
<18 years |
5 years |
There was no significant change in oAHI, oxyhemoglobin saturation nadir, ETCO2, or percent TST in REM after treatment for any treatment group. There was no association between reported symptoms and AHI severity or change in AHI. |
In this cohort, the resolution of mild AOS was low for all treatment groups. These findings are consistent with the current understanding that OSA in children with DS is probably the result of multiple overlapping abnormalities contributing to the obstructive pathology |
|
|
|
|
|
OSA resolved in one patient treated with observation and two treated with medication, but worsened in two each in the medication and observation groups. Resolution of OSA occurred in 20% treated with medication, 7.7% with observation, and 0% with oxygen. |
and suggests that a multimodal approach may be more appropriate in this population. Prospective studies will be useful in the future to establish a better understanding of treatment outcomes in children with DS and AOS lightweight. |
Joyce et al., 202028
|
Questionnaire Behavior rating inventory of executive functionpreschool version (BRIEF-P) |
202 (DS) |
36–71 months |
- |
OSA was associated with poorer working memory, emotional control and shifting. |
Findings suggest that known executive function (EF) difficulties in DS are already evident at this young age. Children with DS already have limited cognitive reserve and cannot afford additional EF deficits associated with OSA. OSA is amenable to treatment and should be actively treated in these children to promote optimal cognitive development. |
von Lukowicz et al., 201958
|
Polygraphy |
18 (DS) |
6.3 years |
1.5 year |
Eighteen recordings had ≥3 hours of artefact free recording in both the pretreatment and posttreatment sleep study and were therefore included in the analysis. Mean age was 6.3 years; 83% had OSA prior to intervention. Mean OAHI was 6.4 before and 6.4 after the intervention; the DI3 and SpO2nadir also did not change. Only the DI90 decreased significantly from 2.7 to 2.1. |
The 1-week intense myofunctional training camp evaluated here in children with DS had only a marginal effect on OSA. Whether a longer follow-up period or duration of intervention would yield stronger effects remains to be determined |
Hill et al., 201850
|
Case series-HPO |
161 (DS) |
0.5–6.0 years |
- |
In this training sample, the best HPO parameter predictors of OSA were the delta 12 s index >0.555 (sensitivity 92%, specificity 65%) and 3% oxyhemoglobin (SpO2) desaturation index (3% ODI)>6.15 dips/hour (sensitivity 92%, specificity 63%). Combining variables (delta 12 s index, 3% ODI, mean and minimum SpO2) achieved a sensitivity of 96% but reduced specificity to 52%. |
HPO screening could halve the number of children with DS who require multichannel sleep studies and reduce the burden on children, families, and health services alike. This approach offers a practical universal screening approach for OSA in DS that is accessible to non-specialist pediatricians. |
Beppler et al., 201852
|
Case series-pediBand (prototype) |
- |
5 years |
- |
The potential of pediBand in measuring physiological signals that can be used in the diagnosis of OSA has been demonstrated. |
It was demonstrated the potential of pediBand to successfully measure physiological signals that can be used in the diagnosis of OSA. |
Best et al., 201860
|
Retrospective case series |
65 (DS) |
4.8 |
8.5 years |
The mean AHI was 10.7 events/hour after AT. Twenty-three patients (35.4%) underwent at least one additional surgical procedure after AT; 5 (7.7%) patients had ≥two additional procedures. The most common additional surgical procedures were revision adenoidectomies (n=8) and LT (n=13). Fifteen (23.1%) patients underwent at least one DISE to help direct selection of surgical site/s. |
This retrospective case series provided the foundation for an algorithm for management of persistent OSA following primary AT in children with DS |
Akkina et al., 201859
|
PSG |
24 (DS) |
<18 years |
3.5 years |
The primary outcome was change in PSG parameters including AHI, OAHI, oxygen nadir, oxygen desaturation index, and mean carbon dioxide level. While improvement was seen in all PSG parameters, only improvement in oxygen nadir in children who had undergone prior AT was statistically significant (88.5 to 90.9%, p=04). |
This study confirms a high proportion of multisite airway obstruction in DS patients with OSA. Although we observed an improvement across PSG measures, this study lacked power to detect statistically significant changes. DISE directed surgery holds promise as a beneficial tool for children with DS but a larger prospective study is needed before specific recommendations may be made on incorporating DISE into the OSA diagnostic and treatment algorithm for children with DS. |
Slaats et al., 201865
|
CT before the surgical procedure and PSG in the postoperative period |
33 (DS) |
4.3 years |
3 years |
Nineteen children underwent a second PSG after AT. Seventy-nine percent had persistent OSA (OAHI> 2 events/h). A greater than 50% decrease in OAHI was observed in 79% and these children had a significantly higher volume of the regions below the tonsils. |
Children with severe OSA had a reduced air passage in the upper airway. Therefore, this study suggests that an image of the upper airway may have an influence on the choice of the text. This study is a pioneer in terms of analyzing the therapeutic response with CT analysis of upper airway. |
Nehme et al., 201743
|
Case series-PSG and sleep questionnaires |
119 (DS) |
6.6 years |
10 years |
Sleep-disordered breathing (SDB) was present in 42.9% of children, with its highest prevalence at age 8 years. Gastroesophageal reflux disease (GERD) was associated with lower odds of OAHI>5 events/hour; Presence of difficulty breathing at night, reported in the questionnaires of parents/caregivers, was significantly associated with apnea. |
SDB is highly prevalent at all ages in children with Down syndrome. Symptoms did not predict SDB in this population, although GERD may mimic SDB. |
Skotko et al., 201751
|
Case series-PSG, Questionnaire, image exam |
102 (DS) |
3.0–24.0 years |
6 months |
The main outcome measure was the AHI. Using a Logic Learning Machine (with a questionnaire, imaging exam, and PSG) the best model had a cross-validated negative predictive value of 73% for mild OSA and 90% for moderate or severe OSA; positive predictive values were 55 and 25%, respectively. |
In areas of the country where PSG is less available or affordable or when patients with DS are unable or unwilling to tolerate a sleep study, the model might offer, after validation, a viable alternative for providers looking to exclude moderate or severe OSA with a questionnaire. |
Dudoignon et al., 201755
|
Retrospective cohort |
57 (DS) |
5.9–6.2 years |
5.5 years |
33% patients required noninvasive respiratory support. Mean age at noninvasive respiratory support initiation was 7±7 years. On 11 patients with objective adherence data available, mean compliance at 2±1 years of treatment was excellent with an average use per night of 8hr46±3hr59 and 9 patient suing then on invasive respiratory support >4 hr/night. Non-invasive respiratory support was associated with an improvement of nocturnal gas exchange. |
The study confirms the high prevalence and increased severity of OSA in children with DS. Upper airway surgery represents a first line treatment but has a limited efficacy. CPAP or NIV represent a very effective therapeutic option in case of persistent OSA after upper airway surgery. The major problem of CPAP/NIV is compliance but good results may be achieved by an experienced pediatric CPAP/NIV team. |
Elsharkawi et al., 201753
|
Urinary biomarkers |
57 (DS) |
4.0–9.1 years |
- |
Most night-sampled urinary biomarkers were elevated among individuals with DS relative to matched HC. No urinary biomarker levels differed between individuals with DS with vs. without OSA. |
DS is associated with a different urinary biomarker profile when compared to HC. While urinary biomarkers may be predictive of OSA in the general pediatric population, a different approach is needed in interpreting urinary biomarker assays in individuals with DS. |
Prosser et al., 201757
|
PSG |
21 (DS) |
4.3–9.3 years |
10 years |
The median improvement in overall AHI and the OAHI were 5.1 events/hour and 5.3 events/hour (range, 22.9 to 41), respectively. The mean oxygen saturation nadir improved from 84 to 89%. The mean time with CO2>50 mmHg, central index, and percentage of rapid eye movement sleep were not significantly different. After surgery, the OAHI was <5 events/hour in 61.9% and ≤1 in 19% of patients. |
In children with DS, persistent OSA after AT and lingual tonsil hypertrophy, LT significantly improved AHI, OAHI, and O2 saturation nadir. We recommend that children with DS should be evaluated for lingual tonsil hypertrophy if found to have persistent OSA following T&A. |
Jayaratne et al., 201754
|
Stereophotography 3dMDface |
63 (DS) |
4.86–7.49 years |
- |
Participants with DS had maxillomandibular hypoplasia with smaller |
Anthropometric analysis of different craniofacial landmarks |
|
|
|
|
|
ear, nose, and eye measurements compared to neurotypically developing peers. We found no statistically significant differences in 3D photogrammetric measurements between participants with DS with or without OSA. |
and measurements demonstrated that OSA cannot be correlated with the presence, absence, or degree of any of these structural alterations within this population |
Hill et al., 201617
|
Case series-Polygraphy |
188 (DS) |
0.6–6 years |
- |
Moderate or severe OSA, defined by an OAHI>5/hour, was found in 14%; and mild-moderate OSA (OAHI>1<5/h) in 59% of children. Male gender and habitual snoring predicted OSA but did not have independent predictive power in the presence of the other factors. Age in months, BMI, and tonsillar size did not predict OSA. |
Moderate to severe OSA is common in very young children with DS. Examination of tonsillar size did not predict OSA severity. Population-based screening for OSA is recommended in these children and domiciliary cardiorespiratory polygraphy offers an acceptable screening approach. Further research is needed to understand the natural history, associated morbidity, optimal screening methodology, and treatment modality for OSA in these children. |
Maris et al., 201646
|
Case series-PSG and questionnaire to parents/caregivers |
122 (DS) |
4–18 years |
5 years |
The overall prevalence of OSA was 66.4%. |
A significant inverse correlation was found between age and AHI |
Maris et al., 201637
|
DISE e PSG |
41 (DS) |
4.2 years |
5.5 years |
Adeno-/tonsillar obstruction was found in 75.6% of the patients, and these patients subsequently underwent UA surgery; A multilevel collapse was present in 85.4%. Tongue base obstruction was present in ten patients (24.4%) and epiglottic collapse in 48.8%; A significant improvement in oAHI from 11.4/h to 5.5/h was found, but persistent OSA was present in 52% of the children. |
Most patients with DS and OSA present with multilevel collapse on DISE. Adenotonsillectomy results in a significant improvement of the oAHI; however more than half of the patients had persistent OSA, probably due to multilevel collapse. |
Maris et al., 201744
|
PSG |
34 (DS) |
2.7–5.8 years |
5.5 years |
The majority presented with severe OSA (58.9%). AT was performed in 22 children, tonsillectomy in 10 and adenoidectomy in two. Postoperatively, a significant improvement of the OAHI was measured from 11.4/hour to 3.6/hour, with a parallel increase of the minimum oxygen saturation. Children with initially more severe OSA had |
AT results in a significant improvement of OSA in children with DS without a change in sleep efficiency or sleep stage distribution. Severe OSA was associated with a larger reduction of OSA severity. |
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|
|
|
|
significantly more improvement after UA surgery. Persistent OSA was found in 47.1% of the children. |
|
Brockmann et al.; 201614
|
Case Control-HPSG |
44 (DS) |
3.6 years |
- |
83% of individuals obtained HPSG results comparable to PSG; 61% of the study subjects had OSA, 18% of which were mild to moderate cases. |
A portable polysomnographic home device may be helpful for diagnosing OSA in children with DS. |
Diercks et al., 201662
|
Hypoglossal nerve stimulator (HGN) Case report |
1 (DS) |
14 years |
6 months |
Hypoglossal nerve stimulator therapy was well tolerated and effective, resulting in significant improvement in the patient's OSA (overall AHI: 3.4 events/hour; AHI: 2.5–9.7 events/hour at optimal voltage settings depending on sleep stage and body position). Five months after implantation, the patient's tracheotomy was successfully removed and he continues to do well with nightly therapy. |
The study demonstrated that the therapeutic measure obtained a well-tolerated and effective result, significantly reducing the patient's respiratory impairment. |
Ono et al., 201533
|
Case series-Questionnaire |
90 (DS) |
16.6 years |
- |
71% of the sample suffered from snoring, 59% had excitation, 25% apnea, and 22% nocturia; 24% had an unusual sleep posture, with the majority being from 6 to 15 years old (52%); Nocturia was the strongest predictor of unusual sleep positions for all OSA symptoms. |
Symptoms related to OSA such as snoring and arousal are frequently observed in Japanese people with DS. Anatomical factors might contribute to the pathogenesis of OSA in people with DS, especially in the younger age groups. The high prevalence of unusual sleep postures may indicate a need to protect or compensate for OSA in people with DS who were less likely to be obese. |
Brooks et al., 201526
|
PSG, MSLT and neuropsychological tests |
25 (DS) |
7.2–18.7 years |
1 year |
The study demonstrated that the clinical findings were not predictive of the presence of OSA (PSG identified OSA in 10 out of 25). The author presented that there was no divergence in neuropsychological tests between children who had and did not have OSA. |
Although SDB is common in children with DS, it is not a major contributor to their cognitive deficits. Cognitive function is related to the amount of sleep and particularly slow wave sleep. Successful treatment of SDB may improve their attention. |
Thottam et al., 201539
|
PSG in the pre and postoperative period of AT |
36 (DS) |
9.0 years |
5.5 years |
Children with DS who underwent surgery showed significant reductions in PSG obstructive and central AHI; 86.7% of children with DS presented a significant reduction in AHI for moderate or mild disease and 66.7% had resolution of central sleep apnea in the postoperative period. |
Children with DS who underwent AT demonstrated significant reductions in both obstructive and central apneic indices on PSG. A significant number of patients with central sleep apnea demonstrated resolution postoperatively. |
Coverstone et al.; 201415
|
PSG and McGill oximetry score |
119 (DS) |
7.0 years |
3.5 years |
OAHI was ≥2.5 for 50% of all individuals; 36.1% had McGill equal to 2 and 14.3% equal to 3 or 4; McGill oximetry scores 3 and 4 are related to OSA and indicate clinical follow-up. |
McGill oximetry scores of 3 or 4 reliably identified patients with marked OSDB. The possibility of central apneas causing hypoxemia must be considered in those with McGill Score 2. |
Lin et al., 201419
|
Case series-PSG and McGill oximetry scale |
49 (C) 49 (DS) |
6.3 (C) 6.2 (DS) years |
- |
34.69% of children with DS presented OSA; OSA in children with DS was more severe than in children in normal development; Children with DS had a higher mean of pCO2 during sleep and worse scores on McGill oximetry. |
Children with DS have more complicated OSA and more impaired gas exchange compared to children in the control group, with similar symptoms. |
Breslin et al., 201427
|
Case series-PSG and cognitive assessment |
38 (DS) |
9.7 years |
3 months |
Among children with DS, mean verbal IQ score was 9 points lower in those with comorbid OSA (AHI>1.5) than in those without OSA, and performance on measures of cognitive flexibility was poorer. Children with OSA showed increased light-stage sleep at the expense of slow-wave sleep. |
The results suggest that more work is needed to understand the influence of poor sleep on learning in DS and other neurodevelopmental syndromes, many of which demonstrate disordered sleep to some extent. |
Stores et al., 201447
|
Case series-Questionnaire, Oximetry |
31 (DS) |
2.3–16.7 years |
- |
No significant association was found between objective measures of restlessness during sleep and ‘snoring’, nor were objective measures of restlessness related to reductions in overnight blood oxygen levels. –The objective measure of snoring was significantly associated with reductions in overnight blood oxygen levels. |
The overnight measures used in the present study proved feasible and largely acceptable to the children and their families. More time spent familiarizing children with the procedure and the use of more recently developed recording systems would be likely to improve the success rate with this particular procedure. |
Austeng et al., 201440
|
Case series-PSG |
29 (DS) |
8.0 years |
- |
AHI>1.5 in 28 of 29 children and an OAI>1 in 24 of 29 children. 19 children (66%) had an AHI>5 and 17 children (59%) had an OAI>5 which indicated moderate to severe OSA. No correlation was found between OSA and obesity or gender. |
The high prevalence of disease found in these previously undiagnosed 8-year-old children underlines the importance of performing OSA diagnostics in children with DS throughout childhood. These findings suggest that the prevalence of OSA remains high up to early school years. |