Charge syndrome and cognition8/9/2023 ![]() Consider combining procedures under a single anesthetic.Postoperative adverse airway events are common in patients with CHARGE syndrome.6 Patients may require increased positive end-expiratory pressure with mask ventilation or when using a supraglottic airway. Laryngomalacia places CHARGE patients at an increased risk of obstruction due to upper airway collapse during anesthesia.Micrognathia increases the risk of difficulty with intubation.An increased risk of aspiration due to reflux and secretion intolerance may be present.Subacute bacterial endocarditis prophylaxis may be indicated.Anticipate challenges with communication and cooperation and consider premedication (Table 3).Evaluate for lower respiratory signs of chronic aspiration or pneumonia.Developmental stage, coping skills, cooperation (if considering awake intubation).Prior surgeries, anesthetics, and intubations.A multidisciplinary consultation with general pediatrics, medical genetics, otolaryngology, cardiology, and ophthalmology should be considered to guide evaluation.Both conductive and sensorineural hearing loss is common.The most common inner ear abnormality is the absence of the lateral semicircular canals.A triangular concha is a common finding (Figure 2). The characteristic external ear appearance is a wide, low set, and cup-shaped ear with a hypoplastic lobule.Ear anomalies are reported in 85-100% of patients.Delayed puberty or pubertal arrest is common.Genital hypoplasia is common with cryptorchidism and micropenis in males and hypoplastic labia and clitoris in females.This often results in communication and language delay. Cognitive impairment is common with low intelligence quotient that is less than 70 in over 70% of patients.Growth retardation results in short stature and pubertal delay.Obstructive sleep apnea is present in about 65% of patients.Tracheoesophageal fistula is seen in about 15-20% of patients.Cleft lip and palate are seen in about 15-20% of patients.Airway obstruction is present in about 70% of patients: laryngomalacia (40%), tracheomalacia (20%), and subglottic stenosis (10%).Bilateral choanal atresia presents at birth with respiratory distress or cyanosis as infants are obligate nasal breathers.It may be unilateral or bilateral and can be membranous or bony. ![]() Choanal atresia is present in about 65% of patients. Background/aim: CHARGE syndrome is a rare autosomal dominant disease with multiple congenital anomalies and cognitive impairment, which is caused by.Conotruncal heart defects (tetralogy of Fallot, double-outlet right ventricle, interrupted aortic arch) and atrioventricular septal defects are common. ![]()
0 Comments
Leave a Reply.AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |