An approach to children with neuromuscular disease

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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

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Topics

• Prototypic diseases
• Clinical assessment
• Management

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Prototypic diseases

• Cerebral palsy
• Predisposing factors
• 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

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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

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Myelomeningocele Arnold-Chiari Malformation

• Incomplete closure of the spinal cord at the
  occipital level or lower
• Incidence 11000
• 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

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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

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Gozal et al 1995
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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)
• 120,000
• Onset before six months Floppy infant, Frog-leg
• Variant form early diaphragm paralysis