Chiari malformation and sleep related breathing disorders

Dauvilliers, Yves; Stal, Veronique; Abril, Beatriz; Coubes, Philippe; Bobin, S.; Touchon, Jacques; Escourrou, P.; Parker, Fabrice; Bourgin, Patrice

doi:10.1136/jnnp.2006.108779

Cited by 114 publications

(84 citation statements)

References 31 publications

(39 reference statements)

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“…Craniosynostosis has been reported in children with specific mutations in KRAS (Addissie et al 2015;Kratz et al 2009) and is a known risk factor for obstructive sleep apnea (Cielo and Marcus 2015). Chiari I malformations can also increase risk for sleep-disordered breathing (Leu 2015;Dauvilliers et al 2007). Thus, behavioral assessment of individuals with NS should include inquiry regarding potential sleep problems, including difficulty initiating sleep, insufficient sleep duration, restlessness, heavy snoring, increased respiratory effort, or pauses in breathing.…”

Section: Considerations For Clinical Neuropsychological Assessment Ofmentioning

confidence: 99%

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

Pierpont

2015

J Pediatr Neuropsychol

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Noonan syndrome (NS) is a relatively common genetic syndrome with variable features including short stature, congenital heart disease, distinctive facial characteristics, skeletal anomalies, and varying degrees of developmental delay. NS is caused by gene mutations in a cellular signaling pathway that is essential for typical growth and development. Research in the past few decades has revealed that individuals with NS have highly variable neurocognitive and behavioral outcomes. To a certain extent, variability in cognitive functioning depends on the particular gene where a mutation is found; additionally, factors related to medical severity and environmental effects contribute substantially to outcomes. This article contains a systematic review of research on neuropsychological features of NS, including cognition, motor development, language, memory, attention, visual perception, adaptive behavior, social skills, and mental health concerns. Given the wide variety of possible cognitive and behavioral complications associated with NS, it is recommended that clinical neuropsychological evaluation of cognitive, adaptive, and psychological domains of functioning should be standard of care for all individuals with NS. Suggested considerations for assessment of individuals with NS are provided. The paper concludes with recommendations for educational and therapeutic interventions, as well as suggestions for future research directions.

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Section: Considerations For Clinical Neuropsychological Assessment Ofmentioning

confidence: 99%

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

Pierpont

2015

J Pediatr Neuropsychol

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“…Both central sleep apnea and OSA complicate Chiari malformations I and II [5,36]. The mechanisms are compression and ischemia of the respiratory center in the medulla and traction of the lower cranial nerves.…”

Section: Congenital Brain Stem Malformationsmentioning

confidence: 99%

Clinical practice

Sadeh

Sivan

2009

Eur J Pediatr

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Sleep problems are very prevalent during infancy. The most common problems are those related to night wakings and sleep-disordered breathing (SDB). Most common night waking problems do not have identified physiologic etiology. Their causes appear to be behavioral or developmental by nature, and they usually respond well to behavioral interventions. SDB may result from a variety of anatomic and neurologic factors and is associated with a variety of medical and developmental disorders. Because of the high prevalence of sleep problems during infancy, their persistence, their potential adverse developmental effects, and the positive treatment outcomes, pediatricians should serve as the primary address for screening and referral to proper assessment and treatment.

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“…A higher number of apneas or hypopneas per hour is associated with more complications and greater morbidity. 4,21 Our severity data underscore the significance of morbidity associated with SDB in patients with myelomeningocele.…”

Section: Sleep-disordered Breathing In Patients With Myelomeningocelementioning

confidence: 67%

Sleep-disordered breathing in patients with myelomeningocele

Patel¹,

Rocque²,

Hopson³

et al. 2015

PED

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OBJECT A paucity of literature examines sleep apnea in patients with myelomeningocele, Chiari malformation Type II (CM-II), and related hydrocephalus. Even less is known about the effect of hydrocephalus treatment or CM-II decompression on sleep hygiene. This study is an exploratory analysis of sleep-disordered breathing in patients with myelomeningocele and the effects of neurosurgical treatments, in particular CM-II decompression and hydrocephalus management, on sleep organization. METHODS The authors performed a retrospective review of all patients seen in their multidisciplinary spina bifida clinic (approximately 435 patients with myelomeningocele) to evaluate polysomnographs obtained between March 1999 and July 2013. They analyzed symptoms prompting evaluation, results, and recommended interventions by using descriptive statistics. They also conducted a subset analysis of 9 children who had undergone polysomnography both before and after neurosurgical intervention. RESULTS Fifty-two patients had polysomnographs available for review. Sleep apnea was diagnosed in 81% of these patients. The most common presenting symptom was “breathing difficulties” (18 cases [43%]). Mild sleep apnea was present in 26 cases (50%), moderate in 10 (19%), and severe in 6 (12%). Among the 42 patients with abnormal sleep architecture, 30 had predominantly obstructive apneas and 12 had predominantly central apneas. The most common pulmonology-recommended intervention was adjustment of peripheral oxygen supplementation (24 cases [57%]), followed by initiation of peripheral oxygen (10 cases [24%]). In a subset analysis of 9 patients who had sleep studies before and after neurosurgical intervention, there was a trend toward a decrease in the mean number of respiratory events (from 34.8 to 15.9, p = 0.098), obstructive events (from 14.7 to 13.9, p = 0.85), and central events (from 20.1 to 2.25, p = 0.15) and in the apnea-hypopnea index (from 5.05 to 2.03, p = 0.038, not significant when corrected for multiple measures). CONCLUSIONS A large proportion of patients with myelomeningocele who had undergone polysomnography showed evidence of disordered sleep on an initial study. Furthermore, 31% of patients had moderate or severe obstructive sleep apnea. Myelomeningocele patients with an abnormal sleep structure who had undergone nonoperative treatment with peripheral oxygen supplementation showed improvement in the apnea-hypopnea index. Results in this study suggested that polysomnography in patients with myelomeningocele may present an opportunity to detect and classify sleep apnea, identify low-risk interventions, and prevent future implications of sleep-disordered breathing.

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Chiari malformation and sleep related breathing disorders

Cited by 114 publications

References 31 publications

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

Clinical practice

Sleep-disordered breathing in patients with myelomeningocele

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