An approach to children with neuromuscular disease
An approach to children with neuromuscular disease Narong Simakajornboon, MD Associate Professor of Pediatrics Director, Sleep Disorders Center, Cincinnati Children Hospital Medical Center, Cincinnati, Ohio, USA Topics Prototypic diseases
Muscle spasticity (upper airway, tongue, soft palate, pharynx) during awake and sleep Seizure [Strores 2001] Visual impairment [Palm et al 1997] Obstructive apnea, hypoventilation [Cohen et al 1997] Prototypic diseases
Difficulty initiating and maintaining sleep, sleep-wake transition [Newman et al 2006] Athetoid CP- abnormal movements during REM sleep [Hayashi et al 1990] Myelomeningocele & Arnold-Chiari Malformation
Incomplete closure of the spinal cord at the occipital level or lower Incidence 1:1000 Impaired arousal to hypoxia and hypercapnia [Ward et al 1986, Gozal et al 1995] SDB in myelomeningocele
62% of patients [Waters et al 1998] Symptoms of snoring, EDS did not predict the presence of SDB Life threatening prolonged apnea during PB [Wealthall et al] Myelomeningocele & Arnold-Chiari Malformation Severe breath holding spells [Cochrane et al 1991]
Neonatal apneic spells [Nishimura et al 1995] Four types : Type I central apnea and hypersomnolence [Keefover et al 1995] Type II OSA and hypoventilation Gozal et al 1995
Spinal muscular atrophy Common genetic cause of child mortality AR: 5q11.2-q13.3 Ant Horn Cell degeneration and proximal muscle weakness Resp muscle paralysis except diaphragm 3 types
Type I (Werdnig-Hoffman) 1:20,000 Onset before six months: Floppy infant, Frog-leg Variant form: early diaphragm paralysis
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