ABSTRACT
RATIONALE: The use of long-term noninvasive respiratory support is increasing in children along with an extension of indications, in particular in children with central nervous system (CNS) disorders. OBJECTIVE: The aim of this study was to describe the characteristics of children with CNS disorders treated with long-term noninvasive respiratory support in France. METHODS: Data were collected from 27 French pediatric university centers through an anonymous questionnaire filled for every child treated with noninvasive ventilatory support ≥3 months on 1st June 2019. MAIN RESULTS: The data of 182 patients (55% boys, median age: 10.2 [5.4;14.8] years old [range: 0.3-25]) were collected: 35 (19%) patients had nontumoral spinal cord injury, 22 (12%) CNS tumors, 63 (35%) multiple disabilities, 26 (14%) central alveolar hypoventilation and 36 (20%) other CNS disorders. Seventy five percent of the patients were treated with noninvasive ventilation (NIV) and 25% with continuous positive airway pressure (CPAP). The main investigations performed before CPAP/NIV initiation were nocturnal gas exchange recordings, alone or coupled with poly(somno)graphy (in 29% and 34% of the patients, respectively). CPAP/NIV was started in an acute setting in 10% of the patients. Median adherence was 8 [6;10] hours/night, with 12% of patients using treatment <4 h/day. Nasal mask was the most common interface (70%). Airway clearance techniques were used by 31% of patients. CONCLUSION: CPAP/NIV may be a therapeutic option in children with CNS disorders. Future studies should assess treatment efficacy and patient reported outcome measures.
Subject(s)
Central Nervous System Diseases , Noninvasive Ventilation , Sleep Apnea, Central , Male , Child , Humans , Adolescent , Female , Noninvasive Ventilation/methods , Continuous Positive Airway Pressure/methods , Treatment Outcome , Central Nervous System Diseases/complications , Central Nervous System Diseases/therapyABSTRACT
The aim of the study was to describe the characteristics of children with neuromuscular diseases treated with long term noninvasive ventilation or continuous positive airway pressure in France. On June 1st 2019, 387 patients (63% boys, mean age 11.2 ± 5.5 years) were treated with long term noninvasive ventilation/continuous positive airway pressure. Thirty three percent of patients had spinal muscular atrophy, 30% congenital myopathy/dystrophy, 20% Duchenne muscular dystrophy, 7% Steinert myotonic dystrophy, and 9% other neuromuscular diseases. Ninety-four percent of patients were treated with long term noninvasive ventilation and 6% with continuous positive airway pressure. Treatment was initiated electively for 85% of patients, mainly on an abnormal overnight gas exchange recording (38% of patients). Noninvasive ventilation/continuous positive airway pressure was initiated during a respiratory exacerbation in 15% of patients. Mean duration of noninvasive ventilation/continuous positive airway pressure was 3.3 ± 3.1 years. Mean objective long term noninvasive ventilation/continuous positive airway pressure use was 8.0 ± 3.1 h/24. Spinal muscular atrophy, congenital myopathy/dystrophy, and Duchenne muscular dystrophy represented 83% of children with neuromuscular diseases treated with long term noninvasive ventilation in France. Screening for nocturnal hypoventilation was satisfactory as noninvasive ventilation /continuous positive airway pressure was predominantly initiated electively.
Subject(s)
Muscular Atrophy, Spinal , Muscular Dystrophy, Duchenne , Neuromuscular Diseases , Noninvasive Ventilation , Male , Child , Humans , Child, Preschool , Adolescent , Female , Continuous Positive Airway Pressure , Muscular Dystrophy, Duchenne/complications , Muscular Dystrophy, Duchenne/therapy , Neuromuscular Diseases/complications , Neuromuscular Diseases/therapyABSTRACT
Background: Hereditary angioedema (HAE) is characterized by unpredictable and potentially life-threatening attacks of cutaneous and submucosal swelling. Over the past decade, new agents, based on a better understanding of the underlying biologic mechanisms of HAE, have changed the face of long-term prophylaxis (LTP). Objective: The objective was to describe current practices and unmet needs with regard to LTP for HAE in expert centers in France. Methods: The study was conducted in France in 2020. Based on their experience with patients with HAE who had visited their center at least once in the past 3 years, physicians from 25 centers who are expert in the management of HAE were requested to fill in a questionnaire that encapsulated their active patient list, criteria for prescribing LTP, and medications used. They were asked about potential unmet needs with currently available therapies. They were asked to express their expectations with regard to the future of HAE management. Results: Analysis was restricted to 20 centers that had an active patient file and agreed to participate. There were 714 patients with C1 inhibitor (C1-INH) deficiency, of whom 423 (59.2%) were treated with LTP. Altered quality of life triggered the decision to start LTP, as did the frequency and severity of attacks. Ongoing LTP included androgens (28.4%), progestins (25.8%), lanadelumab (25.3%), tranexamic acid (14.2%), intravenous C1-INHs (5.6%), and recombinant C1-INH (0.7%). Twenty-nine percent of the patents with LTP were considered to still have unmet needs. Physicians' concerns varied among therapies: poor tolerability for androgens and progestins, a lack of efficacy for tranexamic acid and progestins, dosage form, and high costs for C1-INHs and lanadelumab. Physicians' expectations encompassed more-efficacious and better-tolerated medications, easier treatment administration for the sake of improved quality of life of patients, and less-expensive therapies. Conclusion: Despite the recent enrichment of the therapeutic armamentarium for LTP, physicians still expressed unmet needs with currently available therapies.
Subject(s)
Angioedemas, Hereditary , Tranexamic Acid , Androgens/therapeutic use , Angioedemas, Hereditary/drug therapy , Angioedemas, Hereditary/prevention & control , Complement C1 Inhibitor Protein/therapeutic use , Humans , Progestins/therapeutic use , Quality of Life , Tranexamic Acid/therapeutic useABSTRACT
OBJECTIVE: To describe the characteristics of children treated with long term continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in France. DESIGN: Cross-sectional national survey. SETTING: Paediatric CPAP/NIV teams of 28 tertiary university hospitals in France. PATIENTS: Children aged <20 years treated with CPAP/NIV since at least 3 months on June 1st, 2019. INTERVENTION: An anonymous questionnaire was filled in for every patient. RESULTS: The data of 1447 patients (60% boys), mean age 9.8 ± 5.8 years were analysed. The most frequent underlying disorders were: upper airway obstruction (46%), neuromuscular disease (28%), disorder of the central nervous system (13%), cardiorespiratory disorder (7%), and congenital bone disease (4%). Forty-five percent of the patients were treated with CPAP and 55% with NIV. Treatment was initiated electively for 92% of children, while 8% started during an acute illness. A poly(somno)graphy (P(S)G) was performed prior to treatment initiation in 26%, 36% had a P(S)G with transcutaneous carbon dioxide monitoring (PtcCO2), while 23% had only a pulse oximetry (SpO2) with PtcCO2 recording. The decision of CPAP/NIV initiation during an elective setting was based on the apnea-hypopnea index (AHI) in 41% of patients, SpO2 and PtcCO2 in 25% of patients, and AHI with PtcCO2 in 25% of patients. Objective adherence was excellent with a mean use of 7.6 ± 3.2 h/night. Duration of CPAP/NIV was 2.7 ± 2.9 years at the time of the survey. CONCLUSION: This survey shows the large number of children treated with long term CPAP/NIV in France with numerous children having disorders other than neuromuscular diseases.
Subject(s)
Continuous Positive Airway Pressure , Noninvasive Ventilation , Adolescent , Age Factors , Airway Obstruction/therapy , Child , Child, Preschool , Continuous Positive Airway Pressure/statistics & numerical data , Cross-Sectional Studies , Female , France/epidemiology , Humans , Infant , Male , Noninvasive Ventilation/statistics & numerical data , Patient Compliance/statistics & numerical data , Sleep Apnea Syndromes/therapy , Surveys and Questionnaires , Time Factors , Young AdultABSTRACT
A child with Job's syndrome was treated for pneumonia due to Mycoplasma pneumoniae. A mixed population of wild-type bacteria and an A2059G mutant was detected during josamycin treatment failure. The same multilocus variable-number tandem-repeat analysis (MLVA) type (MLVA type I) was isolated before and after treatment failure. The child recovered after ciprofloxacin treatment.
Subject(s)
Anti-Bacterial Agents/therapeutic use , Drug Resistance, Bacterial , Lung Diseases, Interstitial/drug therapy , Macrolides/therapeutic use , Minisatellite Repeats , Mycoplasma pneumoniae/isolation & purification , Pneumonia, Mycoplasma/drug therapy , Anti-Bacterial Agents/pharmacology , Child , Ciprofloxacin/administration & dosage , Humans , Lung Diseases, Interstitial/microbiology , Macrolides/pharmacology , Male , Mutation , Mycoplasma pneumoniae/classification , Mycoplasma pneumoniae/drug effects , Mycoplasma pneumoniae/genetics , Pneumonia, Mycoplasma/microbiology , Salvage Therapy/methods , Treatment FailureSubject(s)
Cough , Acute Disease , Adult , Age Factors , Anti-Bacterial Agents/therapeutic use , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Antitussive Agents/therapeutic use , Asthma/complications , Asthma/diagnosis , Asthma/drug therapy , Bronchiolitis/complications , Bronchiolitis/diagnosis , Bronchitis/complications , Bronchitis/diagnosis , Child , Child, Preschool , Chronic Disease , Cough/diagnosis , Cough/drug therapy , Cough/etiology , Cough/therapy , Humans , Infant , Infant, Newborn , Laryngitis/complications , Laryngitis/diagnosis , Laryngitis/drug therapy , Pharyngitis/chemically induced , Pharyngitis/diagnosis , Pharyngitis/drug therapy , Pneumonia/complications , Pneumonia/diagnosis , Pulmonary Disease, Chronic Obstructive/complications , Pulmonary Disease, Chronic Obstructive/diagnosis , Respiratory Tract Infections/complications , Respiratory Tract Infections/diagnosis , Respiratory Tract Infections/drug therapy , Risk Factors , Sinusitis/complications , Sinusitis/diagnosis , Sinusitis/drug therapy , Time Factors , Whooping Cough/diagnosis , Whooping Cough/therapyABSTRACT
UNLABELLED: Congenital isolated asplenia may arise as a minor form of situs abnormalities or result from an unrelated specific defect of spleen development. It is a rare life-threatening condition and pneumococcal sepsis is often the first sign of the disease. We report on the case of a deceased 11-month-old girl and her father who developed recurrent pneumococcal meningitis. The fatal evolution in the girl was due to Streptococcus pneumoniae serotype 23 with intermediate penicillin sensitivity 4 h after amoxicillin (100 mg/kg i.v.) administration. Establishing the diagnosis of congenital isolated asplenia in the case of pneumococcal sepsis can be achieved by performing two easy and non-invasive investigations: searching for Howell-Jolly bodies on blood smears and performing ultrasound examination of the abdomen to look for the spleen. In the case of congenital isolated asplenia, use of appropriate prophylaxis could save the lives of affected children. Our review of the literature yielded 31 cases of congenital isolated asplenia. Thirteen were sporadic and 18 were familial cases involving eight families. CONCLUSION: in the case of Streptococcus pneumoniae sepsis, a systematic search for Howell-Jolly bodies on blood smears and ultrasound examination of the abdomen for the presence of asplenia should be mandatory to detect isolated congenital asplenia. If asplenia is found, potentially life-saving antibiotic prophylaxis and pneumococcal vaccination should be initiated.
Subject(s)
Bacteremia/etiology , Pneumonia, Pneumococcal/diagnosis , Spleen/abnormalities , Streptococcus pneumoniae/isolation & purification , Anti-Bacterial Agents , Bacteremia/drug therapy , Congenital Abnormalities/diagnosis , Drug Therapy, Combination/administration & dosage , Erythrocyte Inclusions , Fatal Outcome , Female , Humans , Infant , Pneumonia, Pneumococcal/drug therapy , Risk Assessment , Severity of Illness IndexABSTRACT
A newborn female is described with bilateral anophthalmia and oesophageal atresia. This is the seventh reported case of the Anophthalmia-Oesophageal-Genital (AEG) syndrome.