Congenital Central Hypoventilation Syndrome: Optimizing Care with a Multidisciplinary Approach

Figures & data

Table 1 Recommended Evaluations in Patients with CCHS

	Evaluation	Frequency	PHOX2B Genotype
Pulmonary	Comprehensive physiologic testing during sleep and wakefulness including continuous pulse oximetry, cardiorespiratory monitoring, capnography, and polysomnography	< 3 years of age: every 6 months ≥ 3 years: annually	All PHOX2B PARM and NPARM
Cardiovascular	Ambulatory cardiac monitoring (≥72 hours), blood pressure, and echocardiogram	Annually	All PHOX2B PARM and NPARM
Gastrointestinal	Barium enema or anorectal manometry. Confirmation by rectal biopsy.	At initial diagnosis and subsequently if symptoms appear	20/26 – 20/33 PARM and NPARM
Neurodevelopmental	Comprehensive neurocognitive tests	< 3 years of age: every 6 months ≥ 3 years: annually	All PHOX2B PARM and NPARM
Oncologic	Chest radiograph, abdominal ultrasound, and urine catecholamines (homovanillic acid and vanillylmandelic acid).	0–6 years of age: every 3 months 6–10 years of age: every 6 months > 10 years of age: per oncologist recommendation	20/28 – 20/33 PARM and NPARM
Ophthalmologic	Comprehensive ocular testing by an ophthalmologist	Annually	All PHOX2B PARM and NPARM

Note: Data from these studies.^1,3,41.

Abbreviations: NPARM, nonpolyalanine repeat expansion mutation; PARM, polyalanine repeat expansion mutation; PHOX2B, paired-like homeobox 2B.

Figure 1 Multidisciplinary care for patients with congenital central hypoventilation syndrome.

Abbreviation: CCHS, congenital central hypoventilation syndrome.

Figure 2 Multidisciplinary management of patients with congenital central hypoventilation syndrome.

Abbreviations: CCHS, congenital central hypoventilation syndrome; DP, diaphragm pacing; NPPV, noninvasive positive pressure ventilation; PHOX2B, paired-like homeobox 2B.

Figure 3 Algorithm for tracheostomy decannulation to noninvasive positive pressure ventilation in congenital central hypoventilation syndrome.²⁸

Abbreviations: CCHS, congenital central hypoventilation syndrome; NPPV, noninvasive positive pressure ventilation; PSG, polysomnography; RT, respiratory therapist; TD, tracheostomy decannulation.

Figure 4 Diaphragm pacemaker system. Avery diaphragm pacemaker system and Spirit transmitter. Printed with permission by Avery biomedical devices (Commack, NY, USA).

Figure 5 Algorithm for tracheostomy decannulation to diaphragm pacing in congenital central hypoventilation syndrome.³¹

Abbreviations: CCHS, congenital central hypoventilation syndrome; DP, diaphragm pacing; PSG, polysomnography; TD, tracheostomy decannulation.

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