Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder caused by
PHOX2B gene mutations. CCHS is characterized by hypoventilation and autonomic nervous system
dysregulation and global dysautonomia necessitating artificial ventilation. CCHS increases
the risk to develop neurocognitive deficiencies. Patients retain ventilatory activity when
awake through a respiratory-related cortical network but the need to mobilise cortical
resources to breathe lead to breathing-cognition interferences during cognitive tasks.
No study has focused on attentional abilities in CCHS pediatric population to highlight a
specific attentional profile or to investigate the double task paradigm impact when
attentional resources and management of spontaneous breathing are competing.
The aim of this study is to (i) Understand the link between spontaneous breathing and
attentional functioning in CCHS children by comparing the evolution of breathing pattern
relatively to the complexity of the attentionals tasks.
(ii) Characterize the attentional profil of CCHS patients by comparing attentional tasks
performance of CCHS children versus control children (iii) Measure the impact of variables
such as age and CO2 ventilatory response on attentional performances, by comparing
attentional performances of the young patient group (< 50e p) to the attentional performances
of older patient group (> 50e p) and studying the correlation between ventilatory response to
CO2 and attentional performance (iv) Investigate the link between clinicals and behavioural
tools regarding attentional and executive domains by studying the correlation between the
cognitif test and inventories results Hypothese : attentional task could be link to a deficit
in breathing function leading to hypoxemia and hypercapnia (alveolar hypoventilation).
Methode : compare CCHS patients performances and control group in neuropsychological tests
used usually in clinical practice (TEA-ch, NEPSY, BRIEF) and research (Conners 3, K-CPT II or
CPT III, Flankers Task).
Twenty children (age range : 6 to 16 years old) with CCHS and IQ > 70 and twenty control
subjects in the same age range without neurodevelopmental disorder diagnosis will be
enrolled.
Firstly, subjects of both groups will respond to a neuropsychological assessment including
intellectual Wechsler scale (WISC V), instruction comprehension test (Nepsy II), a manual
laterality test and attentional and executive assessment (TEA-ch + NEPSY II).
Secondarily, CCHS group assessment will be completed with a double task paradigm. Our
protocol includes a simple task condition (the patient must remain still) and a double task
condition (the patient respond to the flanker tasks and K-CPT II or CPT III).
Procedure : continuous recording of breathing parameters : oxygen saturation, exhaled PCO2
(PETCO2 with nasal cannula) and respiratory rate. Breathing respiratory parameters will be
recorded during simple condition and double task condition. "