Screening Children with a Family History of Central Congenital Hypoventilation Syndrome

Table 1

Baseline characteristics of the study population.

Case	Age (years)	PHOX2B	PCO2 (maximum)	ESS	AHI/hr	O2 sat (average)	MRI brain	ECHO (cor pulmonale)	FSIQ
Proband	7	p. Ala24.1(25)	67	4	0	99%	Normal	Negative	83
Proband’s sister	1	p. Ala24.1(25)	70	N/A	N/A	97%	Normal	Negative	70
Proband’s brother	10	p. Ala24.1(25)	56	4	3.4	94%	Normal	Negative	106
Proband’s mother	31	p. Ala24.1(25)	53	5	12.6	94%	N/A	Negative	94

Epworth sleepiness scale. Apnea hypopnea index. Oxygen saturation on room air. NPSG performed on respiratory support with resultant AHI of 0/hr. Data not available at time of this writing. Full-scale IQ as measured by the Wechsler scale of intelligence for children-fifth edition for the proband and the proband’s brother and the Wechsler adult intelligence scale of intelligence-fourth edition for the proband’s mother. For the proband’s sister, the score reflects the patient’s performance on the cognitive development portion of the Bayley scales of infant development-third edition. Scores falling between 85 and 115 are within the normal limits.