The impact of obesity on sleep, pulmonary and chest wall restriction in Osteogenesis Imperfecta: a pilot study
Ramona De Amicis1,2, Vittorio Landoni3, Simona Bertoli1,2
1Department of Food, Environmental and Nutritional Sciences (DeFENS), International Center for the Assessment of Nutritional Status and the Development of Dietary Intervention Strategies (ICANS-DIS), University of Milan, 20133, Milan, Italy.
Insights
Osteogenesis Imperfecta (OI) patients experience breathing issues and sleep apnea, with obesity worsening these conditions. This study highlights the significant impact of OI and obesity on respiratory function and sleep quality.
Area of Science:
- Pulmonary Medicine
- Genetics
- Sleep Medicine
Background:
- Osteogenesis Imperfecta (OI) is a genetic disorder characterized by brittle bones, skeletal deformities, impaired breathing, and poor sleep quality.
- Obesity is a common comorbidity that may exacerbate the respiratory and sleep-related complications in individuals with OI.
Purpose of the Study:
- To investigate the distinct and combined effects of Osteogenesis Imperfecta (OI) and obesity on respiratory function and sleep quality in adults.
- To differentiate the respiratory patterns and prevalence of sleep-disordered breathing in individuals with OI with and without obesity compared to non-OI controls.
Main Methods:
- A comparative study involving four groups of adults stratified by BMI and OI status: moderate/severe OI without obesity (OIno), moderate/severe OI with obesity (OIob), obesity without OI (OB), and controls without OI or obesity.
- Assessment of respiratory parameters including lung function tests, breathing patterns in seated and supine positions, and diagnosis of Obstructive Sleep Apnoea Syndrome (OSAS).
Main Results:
- Obstructive Sleep Apnoea Syndrome (OSAS) prevalence was higher in OIob (64%) than OIno (30%).
- Restricted lung patterns were common in both OIno (77%) and OIob (65%) groups.
- Individuals with OI, particularly when obese, exhibited reduced tidal volume, increased respiratory rate, and diminished ribcage expansion, indicative of hypoventilation and paradoxical breathing.
Conclusions:
- Moderate to severe Osteogenesis Imperfecta is associated with a significant prevalence of obstructive sleep apnoea syndrome, restricted lung patterns, and altered breathing mechanics.
- Obesity in OI patients exacerbates sleep-disordered breathing, leads to hypoventilation when seated, and increases the incidence of paradoxical breathing when supine.
- Further research is needed to develop effective weight management strategies for OI patients, given the limited knowledge on suitable diets and physical activity.
Introduction:
Osteogenesis Imperfecta (OI) is characterised by brittle bones, severe skeletal deformities, low sleep quality, and restricted breathing. We aimed to distinguish how disease and obesity affect these results.
Methods:
According to BMI, we considered four groups of peer adults (median age: 35.0 years): 13 subjects affected by moderate or severe OI without obesity (OIno), 14 affected by moderate or severe OI with obesity (OIob), 10 without obesity not affected by OI (OB) and 10 without obesity not affected by OI.
Results:
Obstructive Sleep Apnoea Syndrome was diagnosed in 4 OIno (30%) and 9 OIob (64%). Restricted lung pattern (z-score of total lung capacity < - 1.64) was diagnosed in 10 OIno (77%); 9 OIob (65%), and 1 OB (10%) subjects. In the seated position, OIob breathed with reduced tidal volume and higher respiratory rate, resulting in hypoventilation. Both OIno and OIob were characterised by rapid and shallow breathing and lower ribcage expansion (negative in 3 (23%) OIno and 3 (21%) OIob). In the supine position, the ventilatory pattern was similar among the four groups, while both OIno and OIob were characterised by reduced ribcage contribution, which was negative in 6 (46%) OIno, 11 (78%) OIob and 1 (10%) OB.
Conclusions:
This is a pilot study on a small sample, the findings and conclusions apply only to this study population. The preliminary results suggest that in subjects with moderate or severe OI per se implies (1) a 30% prevalence of obstructive sleep apnoea syndrome, (2) a restricted lung pattern, (3) a lower ribcage expansion, and (4) rapid and shallow breathing in the seated position. The additional impacts of obesity on OI seem to determine (1) a higher incidence of obstructive sleep apnoea syndrome, (2) hypoventilation in the seated position, and (3) a higher incidence of paradoxical breathing lying supine. Reversing obesity in OI is even more challenging as knowledge of the diet and the physical activity suited for these patients is still scarce.
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