Open AccessFamilial Sleep Disorders in Unknown Genetic Syndrome
Author(s) -
Mara Lelii,
Elena Baggi,
Laura Senatore,
Maria Francesca Bedeschi,
Robertino Dilena,
Maria Iascone,
Silvana Gangi,
Paola Marchisio,
Maria Francesca Patria
Publication year - 2019
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0039-1698808
Subject(s) - hypoventilation , medicine , obstructive sleep apnea , pediatrics , congenital central hypoventilation syndrome , central sleep apnea , genetic disorder , cognition , cognitive impairment , apnea , psychiatry , polysomnography , disease , respiratory system
Sleep-disordered breathing (SDB) is common in children, especially in those with congenital or genetic diseases. The factors involved include obstructive sleep apnea, disrupted rapid eye movement sleep, and central hypoventilation. Diagnosing and treating SDB in these children have a positive impact on the quality of life of them and their families, reducing the risk of both further impairment of cognitive abilities and cardiopulmonary complications. We report a familial case of SDB with central hypoventilation, in which identification of the disorder in the younger sister led to the unfortunately late diagnosis and treatment of the same condition in the older sister.