Case 2: Recurrent lower respiratory tract infections in a child with Down syndrome

A 16-month-old boy with Down syndrome (DS) was seen in the inpatient paediatric ward for consultation because of concerns with ongoing oxygen desaturation despite overall improvement in his respiratory status following a lower respiratory tract infection. History revealed four previous admissions to hospital for lower respiratory tract infections beginning at nine months of age. On three occasions, nasopharyngeal swabs were positive for viral agents (respiratory syncytial virus [RSV], rhinovirus and enterovirus). In addition to these admissions, there were 10 visits to the emergency department. His parents reported that since the first admission, the patient had experienced a persistent cough and had never returned to his baseline status. He was considered to have asthma, received two outpatient courses of dexamethasone and was treated with daily inhaled corticosteroids for three months with no improvement. During his inpatient admissions, he was treated with a combination of oxygen, salbutamol, racemic epinephrine, antibiotics and oral steroids. On one occasion in the emergency department, continuous positive airway pressure (CPAP) was used, to which the patient responded well. He was born at term with an atrioventricular septal defect. He underwent patch closure of the atrioventricular septal defect and patent ductus arteriosus ligation at six months of age. Review of symptoms revealed no additional symptoms, gastroesophageal reflux disease or immunodeficiency. His immunizations were up to date and he had received six doses of palivizumab over his first winter, with three doses received in the current season before his first hospital admission. Physical examination revealed typical features of DS. Growth percentiles were at the 50th and 5th to 25th, respectively, for weight and height on a DS growth chart, and were consistent with previous admissions. Head and neck examination revealed nasal congestion with no visible tonsillar tissue. Respiratory examination revealed tachypnea without evidence of increased work of breathing, with a respiratory rate of 43 breaths/min and oxygen saturation of 94% on 1/8 L/min O2 administered via nasal cannula. His chest x-ray revealed patchy changes in the right upper lobe that had been initially observed five months earlier and were somewhat improved on the most recent film. Fluorographic feeding assessment was normal, with no evidence of tracheoesophageal fistula. A complete blood cell count, immunoglobulin levels and sweat chloride level were all within normal limits. Review of the history with the parents revealed snoring, significant restless and diaphoresis during sleep. His parents reported pauses in snoring following by movement, gasps or arousal from sleep. While these symptoms were worse during times of illness, they were present even when well. Overnight polysomnography was performed one week after discharge from hospital. The study revealed an elevated apnea-hypopnea index of 4.7 events/h and a nadir oxygen saturation of 73%. Sleep was fragmented, with significant paradoxical breathing and a predominant pattern of obstructed breathing. The results confirmed the diagnosis of obstructive sleep apnea (OSA). CPAP during sleep was initiated at 5 cmH2O and was well tolerated. His mother reported an immediate improvement in his sleep-related symptoms, with gradual improvement in his respiratory symptoms. She noticed a dramatic improvement in his level of alertness and developmental progress. He had no further admissions to hospital or visits to the emergency department. OSA is the most common respiratory disorder affecting children with DS. OSA is associated with respiratory tract infections; infection may be both an antecedent as well as a consequence of OSA. CPAP can effectively treat OSA in young children with DS. The American Academy of Pediatrics advocates that providers “discuss symptoms related to obstructive sleep apnea, including snoring, restless sleep, and sleep position” as part of routine health screening because of the extremely high prevalence of OSA in children with DS (1). DS is associated with smaller size of the upper airway, mid-face hypoplasia, narrower nasal airways and micrognathia, and these factors contribute to the increased risk of OSA associated with DS. The tongue, adenoids and tonsils occupy a proportionally greater volume of a small upper airway space. Children with DS experience a high frequency of infections of the respiratory tract. They are more likely than typical children to experience a severe course and even death from respiratory causes. In one series of patients with DS, respiratory pathology was the reason for more than one-half of nonsurgical admissions (2). Children with DS have a high incidence of severe RSV-related lower respiratory tract infection requiring hospitalization (3). OSA is more common in children with a history of RSV bronchiolitis (4). In addition, OSA is a predisposing factor for community-acquired alveolar pneumonia in young children (5). This background, in addition to resolution of recurrent respiratory symptoms in response to CPAP, supports a relationship between recurrent infection and OSA in our patient. Adenotonsillectomy is the first-line therapy for OSA in childhood, but is not often curative in children with DS; two-thirds of children with DS undergoing adenotonsillectomy require additional therapy for OSA (6). CPAP is effective in treating OSA even in infancy. While it is used less commonly for OSA in children than adults, it is generally well tolerated in children with appropriate family education and support. Effective treatment of OSA with CPAP provides the same benefits as surgical therapies with respect to symptom resolution, improved intellectual performance and reduced cardiovascular risk (7). A detailed history of OSA should be obtained for all patients with DS. OSA should be considered in a child with recurrent respiratory tract infections. Young children can tolerate and use CPAP effectively.

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