Respiratory control in children with Prader-Willi syndrome

Schlüter, B.; Buschatz, D.; Trowitzsch, E.; Aksu, Fuat; Andler, Werner

doi:10.1007/s004310050555

Cited by 78 publications

(52 citation statements)

References 15 publications

(21 reference statements)

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“…Her parents reported resolution of snoring and an improvement in her daytime sleepiness and behavior. Conversely, Schluter et al 20 described persistent irregular findings in 3 PWS children studied after adenotonsillectomy. All our patients showed preoperatively moderate to severe OSA and marked adenotonsillar hypertrophy; 2 patients were also obese.…”

Section: Discussionmentioning

confidence: 97%

Adenotonsillectomy for Obstructive Sleep Apnea in Children with Prader‐Willi Syndrome

Pavone

Paglietti

Petrone

et al. 2005

Pediatric Pulmonology

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Summary. The aim of our study was to evaluate the efficacy of adenotonsillectomy for the treatment of obstructive sleep apnea syndrome (OSA) in pediatric patients with Prader-Willi syndrome (PWS), and to describe the postoperative complications. Five patients (4 males; median age, 4.4 years; range, 1.6-14.2 years) were studied. All patients underwent an overnight cardiorespiratory sleep study. All patients had adenotonsillar hypertrophy (ATH), and two were also obese. The preoperative obstructive apnea/hypopnea index (AHI; median and range) was 12.2 (9.0-19.9) events/hr; the mean oxygen saturation was 95 (79-96)%; the nadir oxygen saturation was 71 (58-78)%; and the oxygen desaturation index (ODI) was 15.8 (11.4-35.9) events/hr. Preoperatively, patients were classified as having moderate to severe OSA. A second sleep study, performed 16 (3-43) months after adenotonsillectomy, showed a significant decrease in AHI (P ¼ 0.009) and ODI (P ¼ 0.009). Mean and nadir oxygen saturation did not differ significantly postsurgery (P ¼ 0.188, P ¼ 0.073, respectively). Four out of five children showed at least one postoperative complication. Difficult awakening from anesthesia, hemorrhages, and respiratory complications requiring reintubation and/or supplemental oxygen administration were observed. In conclusion, patients with PWS and OSA who underwent adenotonsillectomy showed a significant decrease in AHI and number of oxygen desaturations. Pediatr Pulmonol. 2006; 41:74-79.

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Section: Discussionmentioning

confidence: 97%

Adenotonsillectomy for Obstructive Sleep Apnea in Children with Prader‐Willi Syndrome

Pavone

Paglietti

Petrone

et al. 2005

Pediatric Pulmonology

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“…Although many aspects of PWS can be related to a basic defect in hypothalamic development, development of other systems is probably also compromised in PWS. Abnormal ventilatory responses to hyperoxia, hypoxia, and hypercapnia when awake and sleeping are noted in PWS patients Gozal et al, 1994;Schluter et al, 1997;Menendez, 1999). Furthermore, there are reports of sleep-related central and obstructive apnea (Clift et al, 1994;Wharton and Loechner, 1996;Manni et al, 2001;Nixon and Brouillette, 2002).…”

Section: Discussionmentioning

confidence: 99%

“…The major manifestations of PWS include neonatal hypotonia and failure to thrive, followed by childhood-onset developmental delay and obesity. Infants with PWS have significant respiratory abnormalities, including sleep-related central and obstructive apneas and reduced response to changes in oxygen and CO 2 levels Clift et al, 1994;Gozal et al, 1994;Wharton and Loechner, 1996;Schluter et al, 1997;Menendez, 1999;Manni et al, 2001;Nixon and Brouillette, 2002). A subset of genes in the region deleted in PWS, including the NDN gene encoding necdin, are active only on the paternally inherited allele and silenced by imprinting on the maternal allele (Nicholls, 2000).…”

Section: Introductionmentioning

confidence: 99%

Absence ofNdn, Encoding the Prader-Willi Syndrome-Deleted Genenecdin, Results in Congenital Deficiency of Central Respiratory Drive in Neonatal Mice

et al. 2003

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necdin (Ndn) is one of a cluster of genes deleted in the neurodevelopmental disorder Prader-Willi syndrome. necdin is upregulated during neuronal differentiation and is thought to play a role in cell cycle arrest in terminally differentiated neurons. Most necdin-deficient Ndn tm2Stw mutant pups carrying a targeted replacement of Ndn with a lacZ reporter gene die in the neonatal period of apparent respiratory insufficiency. We now demonstrate that the defect can be explained by abnormal neuronal activity within the putative respiratory rhythm-generating center, the pre-Bötzinger complex. Specifically, the rhythm is unstable with prolonged periods of depression of respiratory rhythmogenesis. These observations suggest that the developing respiratory center is particularly sensitive to loss of necdin activity and may reflect abnormalities of respiratory rhythm-generating neurons or conditioning neuromodulatory drive. We propose that necdin deficiency may contribute to observed respiratory abnormalities in individuals with Prader-Willi syndrome through a similar suppression of central respiratory drive.

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“…Numerous studies have demonstrated abnormal sleep patterns in patients with PWS that include hypoventilation, oxygen desaturation and sleep apnea [11–13, 31–36]. In addition to ventilation control abnormalities, children with PWS have additional risk factors that predispose them to abnormal pulmonary function and respiratory responsiveness.…”

Section: Discussionmentioning

confidence: 99%

“…Abnormalities in respiratory function are particularly common during sleep and are characterized by impaired ventilatory and arousal responses to hypoxia and hypercapnia in both adult and pediatric patients with PWS [5]. Sleep disordered breathing is one of the minor diagnostic criteria for PWS [10] and encompasses the entire spectrum of sleep-related disturbances from alveolar hypoventilation and hypoxemia to obstructive sleep apnea [11–13]. …”

Section: Introductionmentioning

confidence: 99%

Respiratory Depression in Young Prader Willi Syndrome Patients following Clonidine Provocation for Growth Hormone Secretion Testing

Hollman

Allen

Eickhoff

et al. 2010

International Journal of Pediatric Endocrinology

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Objectives. To determine the sedative and respiratory effects of clonidine when used to evaluate growth hormone (GH) secretion in children with Prader Willi Syndrome (PWS). Methods. The study prospectively evaluated children with PWS who received clonidine (0.15 mg/m2) to assess GH responsiveness. Patients were studied up to four times over three years. Vital signs, oxygen saturation, and sedation level were recorded at baseline and every five minutes following clonidine. Changes between baseline and post-clonidine were evaluated using a repeated measurement analysis. Results. Sixty studies were performed on 17 patients, mean age 30.4 ± 15.0 months. The mean ± SD dose of clonidine was 0.074 ± 0.027 mg (5.3 ± 1.72 mcg/kg). All patients achieved a sedation score of 4 to 5 (drowsy to asleep). Mean declines in respiratory rate (7.5 ± 6.1 breaths/min; P < .001), and oxygen saturation (2.2 ± 2.0%; P < .001) occurred following clonidine. Five patients (29%) experienced oxygen saturations ≤94% on nine occasions. Three oxygen desaturations were accompanied by partial airway obstruction. Conclusions. Clonidine doses to assess GH secretion often exceed doses used for sedation and result in significant respiratory depression in some children with PWS. There was no association between oxygen desaturation and BMI.

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Respiratory control in children with Prader-Willi syndrome

Abstract: These findings indicate a primary disturbance of central respiratory control in patients with Prader-Willi syndrome which may be worsened by the development of obesity.

Cited by 78 publications

References 15 publications

Adenotonsillectomy for Obstructive Sleep Apnea in Children with Prader‐Willi Syndrome

Adenotonsillectomy for Obstructive Sleep Apnea in Children with Prader‐Willi Syndrome

Absence ofNdn, Encoding the Prader-Willi Syndrome-Deleted Genenecdin, Results in Congenital Deficiency of Central Respiratory Drive in Neonatal Mice

Respiratory Depression in Young Prader Willi Syndrome Patients following Clonidine Provocation for Growth Hormone Secretion Testing

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