The Care of Children with Acute and Chronic Respiratory Diseases and Physical Therapy Interventions Jonathan Popler, M.D. FAAP, FCCP Georgia Pediatric Pulmonology Associates American Physical Therapy Association 9/25/12 Objectives • Discuss the presentation and underlying pathophysiology of pediatric respiratory diseases in both the acute and chronic care setting. Objectives At the end of the presentation, participants should be able to: • Identify typical pediatric pulmonary diseases found in acute and chronic care settings • Understand the underlying pathophysiology of common pediatric pulmonary diseases • Identify pediatric patients with pulmonary disease in whom physical therapy intervention and rehabilitation services would be successful What are Typical Pediatric Pulmonary Diseases? • Asthma • Cystic Fibrosis • Respiratory complications from Sickle Cell Disease • Respiratory Complications from neuromuscular Disease Kids can be unpredictable! Atlanta Asthma Capital of the United States!!! What is Asthma? “Asthma is a chronic inflammatory disorder of the airways in which many cells and cellular elements play a role: in particular, mast cells, eosiniphils, T lymphocytes, macrophages, neutrophils, and epithelial cells. In susceptible individuals, this inflammation causes recurrent episodes of wheezing, breathlessness, chest tightness, and coughing, particularly at night or in the early morning. These episodes are associated with widespread but variable airflow obstruction that is often reversible either spontaneously or with treatment. The inflammation also causes an associated increase in the existing bronchial hyperresponsiveness to a variety of stimuli. Reversibility of airflow limitation may be incomplete in some patients with asthma.” (EPR 1191; EPR-2 1997) What is Asthma? Asthma is a chronic inflammatory disorder of the airways which causes recurrent episodes of wheezing, breathlessness, chest tightness, and coughing, particularly at night or in the early morning. These episodes are often reversible either spontaneously or with treatment. Asthma is the Most Common Chronic Illness of Childhood •Highest-ranking chronic condition resulting in hospitalization •31% of ER visits for asthma in 1998 were children under 14 •An estimated 6 million children have asthma •In Georgia, 75,000 children missed 470,000 days of school •Asthma deaths in children between the ages of 5-14 doubled between 1980 and 1993 Asthma in Childhood Prevalence 8.8 – 9.2% OF CHILDREN UNDER 18 YEARS 6 – 7 million children with asthma 8 - 11% OF AFRICAN AMERICAN CHILDREN 9 - 11% OF LATINO CHILDREN 20 - 25% OF INNER CITY CHILDREN Estimated costs of asthma in 2007 Hospital care: $4.7 billion Physician Services: $3.8 billion Prescription drugs: $6.2 billion Asthma is Underdiagnosed and therefore Undertreated in Infants and Children •Children with asthma are often mislabeled as having recurrent bronchitis, bronchiolitis or pneumonia. •The diagnosis of asthma is not needed to consider and begin to treat wheezing in children. •Upper respiratory viral infections are the most common precipitant of wheezing and cough in this age group, and do not preclude the diagnosis of asthma. Risk Factors MAJOR MINOR • Atopic dermatitis • Allergic Rhinitis • Eosinophilia • Maternal history of asthma • Wheezing without colds Racial Differences in Physiologic Parameters of Asthma Middle-class African American Children with Asthma •Decreased FVC and FEV1 •Increased Airway Responsiveness •Increased total serum IgE levels (In comparison with a matched cohort of European- American Children with Asthma) Joseph et al, CHEST, 2000 Age Adjusted Death Rates 16 5 to 34 yo 14 12 10 Death Rate per 8 Total 100,000 Blacks 6 Whites 4 2 0 1982 1983 1984 1985 1986 1987 1988 1989 1990 1991 1997 Source:CDC Mortality Statistics 1992; 1998 2007 NHLBI ASTHMA GUIDELINES • New categories created for children ages birth to 4 yrs, 5 – 11 yrs, and 11 –18 yrs • Emphasis placed on assessing risk and impairment, not just “severity” Treat the symptoms….or should we? Why treat young children…..? Young children are at high risk for severe exacerbations Childhood asthma has the potential to persist and/or relapse Chronic changes of asthma can develop in the preschool years IgE Sensitization • Allergic reactions • Immediate reaction require EXPOSURE induces typical allergy and SENSITIZATION symptoms • Must be exposed for a period of time • Indoor allergens : • Late phase reaction younger than age 2 yrs induces “priming” of • Outdoor allergens : 3- the nasal mucosa 5 yrs becomes hyperresponsive Cough and Asthma • Nocturnal Cough • Cough first thing in the morning • Cough during or after exercise • Exercise Coughing : Uncontrolled asthma or Exercise Induced Asthma Inhaled Corticosteroids • Nebulized – Budesonide • Metered Dose Inhalers – Fluticasone, Beclomethasone, Ciclesonide, Combination therapies • Dry Powder Inhalers – Fluticasone, Mometasone, Budesonide, Combination therapies Stepping UP Therapy Follow up is essential 2 – 6 weeks after starting therapy Every 1 - 6 months once control established Reassess Severity Before making changes : Assess compliance Assess technique Assess knowledge Stepping UP Therapy • Addition of other drugs versus increasing dose • In young children, preferred to first increase dose • Addition of montelukast versus LABA • Assess co-morbities (particularly rhinitis) Other Considerations • Allergy Testing – Trigger Avoidance – Omalizumab (Xolair) – Immunotherapy • Other diagnoses – Cystic Fibrosis – Sinusitis – GER – Vocal Cord Dysfunction – Laryngomalacia Massage Therapy in Asthma • Sixty (60) children with asthma were divided randomly into two equal groups: massage therapy group and control group. • Subjects in the massage therapy group received a 20- minute massage therapy before bedtime every night for 5 weeks • Spirometry was performed for all children on the first and last days of the study • At the end of the study, mean FEV1 of the massage therapy group was significantly higher than controls (2.3-0.8 L versus 1.9-0.9 L, p=0.04). Fattah MA J Altern Complement Med. 2011 Nov;17(11):1065-8. Physical Activity in Pediatric Asthma • Comparison of baseline and post-intervention activity levels among 59 children aged 10-16 with well-controlled asthma and 59 healthy matched controls, Participants completed spirometry, physical examination, anthropometric measurement, and psychosocial questionnaires. • Participants wore blinded calibrated pedometers for a baseline typical activity week • Similar rates of objectively measured physical activity among youth with well-controlled asthma and controls • The intervention was successful even among typically sedentary groups, and represents an effective, safe, and inexpensive walking program, even for asthmatic children. Walders-Abramson N, Wamboldt FS, Curran- Everett D, Zhang L. Pediatr Pulmonol. 2009 Sep;44(9):909-16. Moderate and vigorous exercise programs in children with asthma • Children with asthma (7-14 years old) were randomized to a 9-week swimming or golf program. • Combined group analysis revealed that only six symptom exacerbations • Post-exercise decreases were observed in asthma symptom severity scores (9.3-7.3, P < 0.001), improved parental QOL (4.9-5.4, P < 0.001), and reduced urgent physician visits for asthma (1.3-0.2 visits per person, P = 0.04). • Vigorous and moderate-intensity physical activity programs are well-tolerated, safe. Participants and parents reported reduced childhood asthma symptoms and physician office visits and improved parental QOL. • These findings suggest a potentially beneficial role for moderate to vigorous physical activity in childhood asthma. Weisgerber M, et al. Pediatr Pulmonol. 2008. Dec;43(12):1175-82. Cystic Fibrosis in the Pediatric Population • Chronic sinus and pulmonary infections and malabsorptive symptoms • Median predicted survival to the mid 30s • CF gene encodes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which functions as an ion channel and controls the movement of salt and water into and out of cells Genetics of CF • Autosomal recessive inheritance • Gene on chromosome 7 – Over 1,000 mutations have been identified – F508 is the most common mutation How is the diagnosis of CF made? • Should be suspected in any patient with chronic respiratory symptoms, including chronic cough, wheezing, or poor exercise capability. • Meconium ileus, caused by thick inspissated meconium is a common presentation in the neonatal period. • Failure to thrive, as pancreatic insufficiency increases, is a common presentation in infancy and childhood. • Neonatal screening for CF is currently available in all 50 states. • In patients with suspected CF who have not received neonatal screening, a sweat chloride test is commonly performed, which often shows high concentrations of chloride and sodium within sweat. A concentration in sweat of greater than 60 mmol/L is considered diagnostic of CF. Cystic Fibrosis Foundation. Cystic Fibrosis Foundation Patient Registry Annual Report 2000. Bethesda: Cystic Fibrosis Foundation, 2001. Affected Organs in CF • Sinuses – Sinusitis, nasal polyps • Lung – Endobronchitis, bronchiectasis • Pancreas – Exocrine Insufficiency CF Related Diabetes • Intestine – Meconium ileus Constipation/Obstruction • Liver –Sclerosis • Vas Deferens – failure to develop • Sweat gland – salt-losing dehydration Welsh and Smith, Sci Am, 1995 CF Lung Disease End-stage Lung Disease in CF Current Treatments • Antibiotic therapy, airway clearance • The clearance of mucus and inflammatory debris from the airways will help improve the patient’s lung function. • Airway clearance therapy CPT, Flutter®, Acapella®, Vest®, IPV • Nebulized hypertonic saline, which will induce the expectoration of mucus. • Dornase alfa to decrease the viscosity of purulent sputum and to help relieve mucus plugging • Patients will receive mechanical airway clearance treatment, such as manual chest physiotherapy, autogenic drainage with forced expirations, and high- frequency oscillating vest therapy • Supplementation of the fat-soluble vitamins (vitamins A, D, E, and K. Effects of a short-term rehabilitation program on airway inflammation in children with cystic fibrosis. • Investigated the effects of pulmonary rehabilitation, including physical activity and chest physiotherapy, on airway inflammation in children with CF. • Eighteen children with stable CF (six females), aged 8.2- 16.2 years, participating in a 3-week multidisciplinary inpatient rehabilitation program were recruited. • Median (IQR) symptom scores decreased from 19  to 16 , P = 0.005. • Vital capacity and FVC increased significantly (P < 0.05). • Short-term inpatient rehabilitation for children with stable CF with intensive physical activity mainly improve subjective clinical symptoms and measures of lung function such as VC and FVC Moeller A, et al. Pediatr Pulmonol. 2010 Jun;45(6):541-51. Trampoline use as physiotherapy for cystic fibrosis patients. • Papers in the general pediatric population mostly document an increased incidence of injuries, ranging from minor trauma to spinal cord injuries and even death • Based on the accumulated data, the presumed benefits of trampoline use for CF patients are not proven. • The suggested benefits could be acquired using other types of exercise. Weighing the known risks of trampolines against the potential benefits that are not unique to this modality suggests that the use of trampolines for CF should not be recommended. Barak A, et al. Pediatr Pulmonol. 2005 Jan;39(1):70-3. Usefulness of a program of hospital- supervised physical training in patients with cystic fibrosis. • Evaluation of the effects of a physical aerobic training program • Cystic fibrosis patients participated in 12 weeks of training twice a week. Each training session consisted of walking or running on the treadmill for 30 min at the speed that allowed the child to attain 60% of the maximal heart rate obtained during a baseline stress test for 4 weeks, 70% in the following 4 weeks, and 80% in the last 4 weeks, under strict medical supervision. • There was a significant increase in time of exercise (TE) (P < 0.002), VO2, VO2/kg, and pulmonary ventilation (VE) (P < 0.0001, P < 0.001, and P < 0.001, respectively). • A simple training program improves short-term cardiopulmonary fitness in children with CF Turchetta A, et al. Pediatr Pulmonol. 2004 Aug;38(2):115-8. Effect of Exercise on lung function in children with cystic fibrosis. • Cystic fibrosis (CF) lung disease leads to progressive deterioration in exercise capacity. • Lung function, nutritional status, and exercise capacity and assessments of habitual activity were measured before and after a two-month, subject-designed exercise regimen based on self-reported activity assessment • Subjects completing the study demonstrated significant improvement in exercise capacity and body image perception, a CF-specific QoL measure (p<0.001). • In secondary analyses, subjects improving exercise capacity showed significant increases in lung function and self-reported habitual activity. Paranjape SM, et al. Cyst Fibros. 2012 Jan;11(1):18-23. SICKLE CELL DISEASE The substitution of valine for glutamic acid in beta- globulin of hemoglobin has been known as the cause of sickle cell anemia since 1957. That this specific knowledge has not resulted in a rationally designed, specific cure is a disappointment. Platt, OS. NEJM 2000;342:1904-1907 Sickle Cell Disease Clinical Background • 1:650 African Americans • 70-80,000 patients in US • Median Life Expectancy – 48 years in females; 42 years in males • Improved Pediatric Survival – Newborn Screening – PCN prophylaxis – Pneumococcal and HIB vaccine Derangements Affecting the Lungs in HbSS Disease • Right shift of the oxygen- Hb • Increased synthesis of reactive dissociation curve ----- hypoxemia. oxidants --- tissue injury • Hypercoaguability ----- increased thrombin, fibrin, and platelet activation. • Functional asplenia – deficient phagocytosis • Arteriolar vasculopathy – adherence of red blood cells to vascular endothelium. Bunn HF, N Engl J Med 1997; 337:762-69. Acute Sickle Cell Pneumopathies • Vasocclusive (pain) crises with splinting and resultant atelectasis • Asthma Exacerbations • Asthma Exacerbations preceding pain crises • Acute Chest Syndrome Acute Sickle Cell Pneumopathies Vasocclusive crisis with atelectasis • Painful involvement of ribs, sternum, spine or abdomen • Splinting with reduced ventilation • Segmental or lobar atelectasis • Increased V/Q mismatch, alveolar hypoxia and intrapulmonary shunting • ? Prelude to Acute Chest Syndrome (ACS) Sickle Cell and Airway Reactivity • Chronic airway inflammation likely • Studied by cold-air challenge – “Hyperreactivity” noted • 73% prevalence in group • 64% in “asymptomatic” subgroup Allen, J Ped 1997; 131:278-83 Pulmonary Function in Children with Sickle Cell Disease • 63 children and adolescents – 35 African Americans and 28 Hispanics – homozygous SS disease • 35% with lower airway obstruction – 78% respond to bronchodilator • 8% with restrictive disease – 67% respond to bronchodilator Koumbourlis et al. J Peds 2001 The Asthma Phenotype and Acute Chest Syndrome • Asthma and increased bronchial hyper-reactivity but not atopy are more common in children with SCD than age and ethnically matched controls • SCD Children with Atopy and Asthma (“Atopic Asthma”) are more likely to have recurrent ACS • Asthma is associated with increased risk for both Knight-Madden JM et al Thorax 2005;60:206-210 ACS and CVA Nordness ME et al. Clin Mol Allergy 2005;3:2-6 Acute Chest Syndrome - ACS • Acute Pulmonary Illness in Patient with SCD – Up to 50% initially admitted for another dx Vichinsky, NEJM 2000;342:1855-65 • Accounts for 25% of deaths in SCD – Most common cause of death in SCD • More Common in Children – 50% of children with SCD in first decade Gill, Blood 1995; 86:776-783 • Most Prevalent in SS Disease > SC > S-Thalasemia ACUTE CHEST SYNDROME IN PEDIATRIC PATIENTS • 50% of patients originally admitted for VOC • New Pulmonary Infiltrates – Initial CXR may be normal • Fever (83%) • Cough (65%) • Chest Pain (41%) • Tachypnea (47%) • Dyspnea (35%) • Mean SpO2 92% Vichinsky NEJM; 2000;342:1855-1865 ACUTE CHEST SYNDROME Keys to Therapy • Early recognition • Adequate pain control • Adequate hydration, correction of acidosis • Antibiotics – cephalosporin & macrolide • Hematologic Support – Simple Transfusion • Elevate Hb to 10-12g/dl • Elevate HbA % – Exchange Transfusion • Reduction in HbS% - <30% Inpatient Management of ACS at Children’s Healthcare of Atlanta • Pulmonology consultation in any patient with VOC and altered pulmonary mechanics, atelectasis or hypoxemia. • Early management of ACS – Aggressive pain control – Adequate hydration – Supplemental oxygen – Bronchodilator therapy – Incentive Spirometry / PEP therapy/ VEST therapy – Non-invasive ventilation with moderate dyspnea, increasing hypoxemia O2 requirement > 2 lpm – Simple transfusion – Ceftriaxone + macrolide ACUTE CHEST SYNDROME IN PEDIATRICS Therapy • Adequate oxygenation • Maintain SpO2 93%-95% • Adequate pulmonary toilet • ?CPT • segmental breathing, “huff breaths” • Vest therapy • Bronchoscopy/Mucolytics • Adequate ventilation • Incentive spirometry (Bellet, NEJM 1995;333:699) • Non-invasive vs. invasive ventilation Other Therapies • Steroids • ECMO • iNO VEST THERAPY • High frequency oscillatory chest percussion • Well tolerated in patients with pain • Multiple vest sizes • Alternative or adjunct to CPT, airway clearance techniques • Decreases atelectasis, facilitates recruitment • Settings – 7 to 12 Hz (1-20) – Pressure level 5-7 (1-15) – 10 minute cycles x 2-3 up to qid Non-invasive Ventilation in Acute Chest Syndrome • Early intervention to prevent or slow pulmonary deterioration • Facilitates alveolar recruitment Decreases hypoventilation due to pain and resultant splinting • Decreases atelectasis • Improves V/Q matching, decreases alveolar hypoxia Chronic Pulmonary Problems and Management of the Patient with Sickle Cell Disease Comprehensive Sickle Cell Pulmonary Clinic • Each patient jointly seen by hematologist and pulmonologist • Full pulmonary function, oximetry at each visit • Continuous database • Inhalation technique review (spacer teaching) • Ongoing therapy • Social services support Proactive Cardiopulmonary Management • Diagnostics – Serial Pulmonary Function Testing • Spirometry • Plethysmography • DLCO – Polysomnography – Routine Pulse Oximetry – Echocardiogram Pulmonary Function Testing • Identification of Increased Airway Reactivity – bronchodilator response • Identification of Obstructive Disease • Identification of Restrictive Disease • Serial measurement of DLCO/VA – normal early – rises in early teen years • correction for anemia, alveolar volume – normalizaltion may suggest “shrinking” pulmonary vascular bed Management of Obstructive Lung Disease in Sickle Cell Disease • Surveillance – Serial Spirometry and Plethysmography • Management – Maintenance Anti-Inflamatory or Combination Therapy • ICS, LTRAs • ICS+LABAs – Prn Bronchodilators, Exercise Pre-treatment – Routine Pneumoccocal and Influenza Vaccines Monitoring of Restrictive Lung Disease in Sickle Cell Disease • Surveillance – Serial Spirometry, Plethysmography, DLCO – Polysomnograpy or 24 hr Oximetry – Echocardiograpy • Management – Supplemental Nocturnal Oxygen (if indicated) – Trial of Inhaled Therapy • ICS or Combination Therapy • Prn Bronchodilators – Consider Hydroxyurea – ? 5-Lipoxygenase Inhibitors Management of Restrictive Lung Disease in Sickle Cell Disease • Management – Pulmonary Recruitment Therapy • Incentive Spirometry • PEP Therapy • VEST Therapy • Nocturnal BiPaP – Routine Influenza and Pneumococcal Vaccines – Treatment of Pulmonary Hypertension (if present) – Consideration of Hydroxyurea Sickle Cell Disease(SCD) and Nocturnal Oxyhemoglobin Desaturation (NOD) • Nocturnal desaturation seen in up to 40 % of children and adolescents with SCD Franco M, ARCCM 1996;153:A496 • OSA may be more severe and may complicate SCD Sidman 1986, Madden 1988, Samuels 1992 • OSA does not appear to explain the prevalence of NOD Brooks 1997, Needleman 1999 • Reduced pulmonary function does not correlate with NOD Needleman 1999 • V/Q mismatching which may result from progressive sub-clinical intrinsic lung disease not systematically explored Management of Nocturnal Hypoxemia in Children with Sickle Cell Disease • Surveillance – Serial Oximetry – Consider polysomnography in any child with SaO2 < 93%, history of ACS or suspected lung disease – Echocardiography Management of Nocturnal Hypoxemia in Children with Sickle Cell Disease • Management – Treatment of any Obstructive Sleep Apnea (OSA) – Supplement for TST (total sleep time)< 90% > 10% – Titrate oxygen supplementation to maintain nocturnal SaO2 > 93% – Repeat polysomnography or home surveillance of nocturnal oximetry – Sprometry, Plethysmography, DLCO when possible – Aggressive management of clinically or physiologically evident lung disease PAH in Sickle Cell Disease 32% frequency of PAH in adult patients with SCD –N=195; Hb SS (69%), SC (18%), S-Thal (12%) –Increased risk of death (rate ratio 10.1, 95%CI 2.2 to 47.0, P<0.001) Gladwin MT, Sachdev V, Jison ML, et al. Pulmonary hypertension as a risk factor for death in patients with sickle cell disease. N Engl J Med 2004;350:886–95. Age and PAH in Sickle Cell Disease Above patients <20 y.o. all 18 y.o. Other studies published in abstract form estimate PAH prevalence of 25% in children with SCD and as high as 57% in the setting of comorbid pulmonary problems1 8-33% prevalence in children from other studies2 1 - Castro O, Gladwin M. Pulmonary Hypertension in Sickle Cell Disease. Hem Onc Clin Nor Am. Vol 19, 2005. 2 - J Pediatr Hematol Oncol. 2009 Feb;31(2):97-100. Pediatr Pulmonol. 2009 Mar;44(3):281-9. Contributing factors • Hemolysis – Markers of hemolysis correlate with PH – NO scavenging by free Hb – Oxidative stress (reactive O2 and NO species) – Erythrocyte arginase release – Downstream effects • VCAM-1, P-selectin, endothelin-1, thrombosis • Acute chest syndrome, pneumonia, chronic hypoxemia, other pulmonary disease • Endothelial damage from sickling, in situ thrombosis • Other – iron deposition, liver disease, hyposplenism, anemia, high cardiac output Etiologic Considerations As A Basis for Therapy in PAH • Elevated pulmonary artery pressures (i.e. MPAP>25 mmHg) – Due to left heart disease • Normal transpulmonary gradient • PVR < 3 indexed WU • Elevated PCWP or LVEDP • Diuretics, ACE-inhibitors, beta-blockers – Due to increased PVR • Elevated transpulmonary gradient and PVR • Normal or mildly elevated PCWP or LVEDP • Pulmonary vasodilators, warfarin – Mixed etiology • Moderately+ elevated PCWP/LVEDP • PVR > 3 indexed WU • Treat left-heart disease first, re-evaluate after 6 months Prevalence and Risk Factors of Elevated Pulmonary Artery Pressures in Children with Sickle Cell Disease Pashankar, FD et al. Pediatrics 2008;121(4):777-782 • Echocardiography obtained in 62 patients with SS or S0 thalassemia 6 years or older in outpatient setting • 30 % (19/62) with TR > 2.5 m/sec consistent with PAPest > 30 mm Hg • Elevated PAP observed only in SS patients • Unrelated to age or gender • Elevated PAP associated with – Higher reticulocyte count ( p = .01) – Higher platelet count (p = .03) – Lower SpO2 (p = .03) • 13 % (8/62) with a history of CVA or abnormal TCD – No elevation of PAPest observed Monitoring at Children’s Healthcare of Atlanta • Screen starting at age 5 years • TR jet < 2.5 m/sec – Screening echo every year – TR jet 2.5-3 m/sec – Confirmatory repeat echo within 6 mo – If still 2.5-3 m/s, consider intensification of sickle cell treatment • Hydroxyurea, chronic transfusion • Aggressive pulmonary management – Identify and optimize contributing factors • OSA (T & A, CPAP/BiPaP, O2), iron overload (chelation), thromboembolism (anticoagulation), • Q6 mo echo while in this range • TR jet > 3 m/sec – Confirmatory repeat echo within 3 mo with cardiac evaluation – Same recommendations as above for 2.5-3 m/sec plus – If TR jet is still >3 m/s, consider right heart catheterization in discussion with hematology (sedation/transfusion recommendations from hematology prior to procedure) • Left heart disease vs PVD vs mixed Pulmonary Vasodilator Therapy for PAH in SCD • Choice based on relative risk profile for individual • Sildenafil (Revatio, Viagra) - safe in small series of patients in open label use1 – PDE-5 inhibitor, increases NO levels – Rationale: impaired NO synthesis due to increased arginase activity; increase NO destruction via free hemoglobin scavenging – Risks: priapism • (Bosentan (Tracleer) – currently in trial for this indication – Nonspecific endothelin receptor antagonist – Rationale: elevated endothelin levels in SCD, pulmonary vascular remodeling – Risks: liver toxicity, anemia, increases plasma volume • L-arginine? (low toxicity, minimal evidence, fair rationale) 1 - MachadoRT, Martyr SE, Anthi A, et al. Pulmonary hypertension in sickle cell disease…. Br J Haematol 2005;130:445–53. Derchi G, Forni GL, Formisano F, et al. Efficacy and safety of sildenafil…. Haematologica 2005;90:452–8. HYDROXYUREA THERAPY IN SCD ?Potential Reduction in SCLD • Increases HbF, decreases HbS%, ?decreases WBC • Significant reduction in ACS in adults and children Marwick, JAMA 1995;273:611, Scott J Ped 1996;128:820 • Decrease in VLA-4 and CD36 adhesion molecules Styles, Blood 1997;89:2554 • Splenic regeneration Claster, Blood 1996;88:1951 Hydroxyurea may be an NO donor Spectrum of pulmonary problems MECHANISMS: Exercise PA hypertension •Low pO2 Limitation •Low NO •High Chronic Lung inflammatory Disease mediators •High VCAM •Fibrosis Infection Acute Chest Non ACS Vaso- Asthma Pain occlusion 2012 American Thoracic Society - Multi-Center Collaboration to Establish: • Pediatric Sickle Cell Registry – Epidemiological Data Base – Monitoring • Controlled Clinical Trials – Chronic Pulmonary Management • Application of traditional therapies • Application of novel therapies – Anti-inflamatory – Cytoprotective – Acute Chest Syndrome Management • Application of traditional therapies • Application of novel therapies Pediatric Neuromuscular Syndromes • Neuromuscular diseases are disorders caused by an abnormality of any component of the lower motor neuron system: anterior horn cell, peripheral nerve, neuromuscular junction, or muscle. • Acquired - poliomyelitis, Guillain-Barré syndrome, myasthenia gravis, polymyositis • Genetic - spinal muscular atrophy, hereditary motor sensory neuropathy, congenital myasthenia gravis and Duchenne's muscular dystrophy Cuccurullo S. Physical Medicine and Rehabilitation Board Review. Neuromuscul Disease in Children Common symptoms • infantile floppiness or hypotonia • delay in motor milestones • feeding and respiratory difficulties, • abnormal gait characteristics, frequent falls, difficulty with stairs or arising from the floor Cuccurullo S. Physical Medicine and Rehabilitation Board Review. Neuromuscular Disease in Children Physical Exam Findings • Pseudohypertrophy - Increased gastrocnemius calf circumference caused by increase in fat and connective tissue, not true muscle (DMD, Becker’s) • Stork leg appearance—focal atrophy of distal lower extremity muscles particularly seen in hereditary motor sensory neuropathy • Muscle fasciculations—seen in a variety of lower motor neuron disorders, especially common in spinal muscular atrophy • Hepatosplenomegaly—common in metabolic myopathy such as acid maltase deficiency and types 3 and 4 glycogenosis Cuccurullo S. Physical Medicine and Rehabilitation Board Review. Neuromuscular Disease in Children Physical Exam Findings • Gowers' sign—results from proximal weakness of the pelvic girdle muscles causing patients to rise off the floor assuming a four-point stance on hands and knees, • Toe walking/myopathic gait—weakness of hip extensors produces anterior pelvic tilt and tendency for trunk to be positioned anteriorly to the hip. Patients compensate by maintaining lumbar lordosis, which positions their center of gravity posterior to the hip, stabilizing the hip in extension. • Trendelenburg gait/gluteus medius gait—weakness of hip abductors produces tendency toward lateral pelvic tilt and pelvic drop of swing phase side. Patient compensates by bending the trunk laterally over the stance hip joint • Steppage gait/foot slap—occurs secondary to distal weakness affecting ankle dorsiflexion and evertors. Steppage gait facilitates clearance of plantar flexed ankle Cuccurullo S. Physical Medicine and Rehabilitation Board Review. Neuromuscular Disease in Children Dystrophic Myopathies • Duchenne’s and Becker’s Muscular Dystrophy • Early on weakness is generalized, however, predominantly proximal. • Greater than 40%–50% loss of muscle power occurs by age 6 years. The average age to wheelchair dependency is approximately 10 years with a range of 7–13 years. • Scoliosis—Prevalence varies from 33%–100% and is related to age. 50% acquire scoliosis between ages 12–15 years. • Pulmonary—Forced Vital Capacity (FVC) volumes increase during the first decade of life and plateau during early part of the second decade. There is a linear decline of FVC between age 10 and 20. FVC less than 40% is a contraindication to surgical spinal arthrodesis secondary to increased peri-operative morbidity • Cardiomyopathy usually is first noticed at age greater than 10 years and is apparent in nearly all patients more than 18 years old. Cuccurullo S. Physical Medicine and Rehabilitation Board Review. Neuromuscular Disease in Children Management of Dystrophic Myopathies • Promotion of activity • Prevention of fixed deformity (e.g., equinus) by passive stretching • Braces for promotion of ambulation if loss of ability to walk in late stages Prevention and management of scoliosis if chairbound Therapy in Neuromuscular Disease • Eccentric or lengthening contractions produces more mechanical stress on muscle fibers than concentric or shortening contractions • No systemic studies using Duchenne's muscular dystrophy populations have shown any deleterious effect of resistance exercise. Generally a submaximal strengthening program is prescribed • Wheelchair reliance is imminent when knee extension strength becomes less than anti-gravity and time to ambulate 30 feet is greater than 12 seconds • Duration of ambulation in Duchenne's muscular dystrophy has been successfully prolonged by 2 to 5 years by prompt surgery and bracing following loss of independent ambulation • Little evidence supports the efficacy of early prophylactic lower extremity surgery in Duchenne's muscular dystrophy for independently producing prolonged ambulation •Cuccurullo S. Physical Medicine and Rehabilitation Board Review. Neuromuscular Disease in Children Congenital Muscular Dystrophies • A heterogeneous group of cases presenting with clinical weakness or deformities in early infancy and having variable dystrophic changes in the muscle • Presenting with hypotonia and weakness, fixed deformities (arthrogryposis), variable sucking, swallowing, and respiratory difficulty, delayed motor milestones in later onset cases • Variable course and prognosis • Infants present with hypotonia, muscle weakness at birth or within the first few months of life, congenital contractures and a dystrophic pattern on muscle biopsy • Children exhibit early contractures, equinovarus deformities, knee flexion contractures, hip flexion contractures and tightness of wrist flexors and long finger flexors Cuccurullo S. Physical Medicine and Rehabilitation Board Review. Neuromuscular Disease in Children Management • Active physiotherapy to encourage mobility • Passive stretching of "fixed" deformities • Surgical correction of residual deformities at appropriate stage (equinovarus correction when able to stand) • Avoid immobilization that promotes fixed deformity • Supportive treatment for respiratory problems Cuccurullo S. Physical Medicine and Rehabilitation Board Review. Neuromuscular Disease in Children Spinal Muscular Atrophy SMA Type I (Werdnig-Hoffman Disease)—Severe SMA • An autosomal recessive disorder of early infancy with severe axial and limb weakness due to degeneration of the anterior horn cell of the spinal cord • Presents in the first months of life with hypotonia and weakness, sucking and swallowing difficulty, respiratory insufficiency • Cardinal Clinical Signs - severe limb and axial weakness, frog posture, marked hypotonia, poor head control, bell- shaped chest • Prone to respiratory infections • Prognosis poor; majority die of pneumonia in first year, most within 3 years • Fasciculation of tongue (about 70%) •Cuccurullo S. Physical Medicine and Rehabilitation Board Review. •Neuromuscular Disease in Children SMA – Type II • Intermediate SMA • weakness predominantly of the legs, with ability to sit unsupported but not to stand, due to degeneration of the anterior horn cells of the spinal cord • Presents between 6 and 12 months •Cuccurullo S. Physical Medicine and Rehabilitation Board Review. •Neuromuscular Disease in Children Management: • Prevention of scoliosis by early bracing • Treatment of scoliosis by spinal braces or surgery • Early achievement of standing posture in standing frame or calipers • Promotion of ambulation by appropriate orthoses •Cuccurullo S. Physical Medicine and Rehabilitation Board Review. •Neuromuscular Disease in Children SMA Type III • SMA Type III (Kugelberg-Welander syndrome) • Mild SMA characterized by proximal weakness, predominantly of the legs, due to degeneration of the anterior horn cells of the spinal cord • Presents from the second year of life through childhood and adolescence into adulthood • Presents with difficulty with activities such as running, climbing steps, or jumping, abnormal gait; waddling, flat- footed, wide base • Difficulty rising from floor (Gowers' sign), proximal weakness; legs > arms • Hand tremor (variable), Tongue fasciculation (variable) • Good long-term survival, depending on respiratory function •Cuccurullo S. Physical Medicine and Rehabilitation Board Review. • Neuromuscular Disease in Children Mangement • Encourage activity and ambulation • Rehabilitation in braces if ambulation lost • Vigorous treatment of respiratory infections Cuccurullo S. Physical Medicine and Rehabilitation Board Review. Neuromuscular Disease in Children THANK YOU!
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