Pediatrics Part 2

Duchenne Muscular Dystrophy

100

Primary Impairments, Activity Limitations, and Participation Restrictions 

Primary Impairments: muscle weakness, may have cognitive impairment (most common in congenital forms) 

Activity Limitations: walking, stairs, sports

Participation Restrictions: Navigating school/home environment 

200

Medical Management Options 

Gene Therapies: Dystrophin gene replacement, exon-skipping drugs (abnormal exon is removed and replaced with normal cells) 

Pharmacological: Corticosteroids -- improve strength and pulmonary function, prolong walking up to 3 years; Creatine -- improve strength, endurance, and reduce stiffness 

Surgery: tendon lengthening, spinal fusion

300

Timeline and Classifications of DMD

Timeline: Symptoms noticed around 3-5 years old --> walking lost 10-12 years old --> life expectancy up to the 3rd decade 

Stage Classifications: 

Early Ambulatory: diagnosis after delays in motor milestones noted

Transitional Late Ambulatory: some ability to walk -- gets more and more difficult -- increased muscle weakness and fatigue

Transitional Early Non-Ambulatory: lose ability to walk, wheelchair for mobility 

Late Non-Ambulatory: Further decline in muscle function, can impact breathing and heart function 

400

PT Management 

Submaximal exercise and strength 

If initiated early -- focus on abdominals, hip extensors, abductors, knee, extensors 

Cycling, swimming, walking for early/transitional phases

Ask about dark urine following exercise 

Standing activities 2-3 hours daily 

Monitor strength 

Contracture prevention/management

Respiratory Function 

Functional Mobility 

Education 

500

How to Manage Contractures 

Stretching: gastrocs, hamstrings, TFL

Night Splints: and stretching leads to longer duration walking 

Standers -- Later stage 

ROM

Spinal Muscular Atrophy

100

Pathology

Degeneration of anterior horn cells (spinal cord and brainstem

Atrophy and progressive weakness 

Those with SMA lack SMN₁ (produced full length SMN) gene, severity of disease depends on SMN₂ (encodes small amount of protein) gene 

200

Types of SMA

SMA Type 1 -- Acute 60-70% of cases, onset 0-4 months old, recessive, rapidly progressive 

SMA Type 2 -- Childhood onset, 20-30% of cases, onset 6-12 months old, recessive, slowly progressive 

SMA Type 3 -- juvenile onset, 10-20% of cases, onset 1-10 years old, recessive, slowly progressive 

300

Expected Impairments, Activity Limitations, and Participation Restrictions 

Expected Impairments: Weakness of proximal musculature (hands remain strong), difficulty breathing, sucking, swallowing, delayed milestones, impaired motor function, fatigue, spasticity, contractures, fractures, etc

Activity Limitations: Walking, stairs, sports

Participation Restrictions: Navigating school/home environments

400

Presentations and Functional Abilities

SMA Type 1: weak/absent fetal movement, weakness of proximal muscle of neck/trunk/pelvic girdle, often fatal by 1-21 months, early respiratory distress and us of abdominal to breathe, scoliosis, contractures, may be intubated or have tracheostomy

SMA Type 2: Weakness greatest in hip and knee extensors and trunk, may learn to sit, even stand, course of disease varies widely, median age of death >10 years

SMA Type 3: Proximal LE weakness, postural compensations with resulting contractures, increased lumbar lordosis, Trendelenburg gait, sometimes PF contractures and scoliosis, No significant UE weakness, may live into adulthood

500

Interventions

SMA Type 1: Positioning = KEY, supine on wedge --> improve respiration, side-lying --> promote midline head position and hand to midline, NO PRONE (too much effort to lift head and compromises respiration), supported sitting (focus on good spinal alignment to prevent respiratory compromise; support head/trunk), ROM to prevent contractures, AVOID FATIGUE, encourage active reaching with lightweight toys

SMA Type 2: TLSO --> trunk control, molded seating/positioning, standers/standing frames, short therapy session to avoid fatigue, developmental skills, aquatics, KAFO's for standing, wheelchairs (power vs. manual)

SMA Type 3: Stretching/ROM --> decrease contractures, selected strengthening, power scooter for longer distances, LE bracing as needed, AD for walking --> good UE strength

Orthopedic Conditions

100

Torsional Conditions

In-toeing: (concern after age 5 if > -5 deg)

Causes: femoral anteversion, internal tibial torsion, metatarsus adductus

Natural Progressions: tripping, pain

Out-toeing: (concern if >20 deg)

Causes: ER of hip, femoral retroversion (rare), external tibial torsion (can be from W-sitting), calcaneovalgus

Natural Progressions: pain, difficulty with gait

200

Angular Conditions

Genu Valgum: (concern after age 7-8)

Causes: obesity, significant femoral anteversion, pathological (CP, OI, osteochondrodysplasia, Rickets, growth plate injury due to trauma, congenital hemimelia)

Progression: Anterior knee pain, pes planus, PTF instability, difficulty running

Genu Varum: (concern after age 4)

Causes: Congenital tibial hemimelia, osteochondrodysplasia, partial physeal arrest due to trauma, Rickets, tibial vara (Blount's disease), excessive prenatal fluoride ingestion

Progression: Fracture risk, pain

Normal Progression of knee angle: 

Newborn --> moderate genu varum (expect this before 1 1/2 years)

1 1/2 - 2 years --> legs straight 

2 1/2 years --> physiologic genu valgum (expect at this age)

4-6 years --> legs straight

300

Presentation and Bracing Options for Club Foot

Presentation: Forefoot adductus, hindfoot varus, ankle equinus, hypoplasia of the limb and small calf

Bracing/Surgical Options: Ponseti Method -- serial casing/bracing, corrects cavus deformity first, then equinus, most will then require achilles tenotomy followed by bracing, daily manipulations in French Method, complex surgery for rigid club foot; stretch the foot in eversion and DF directions (vertical and out)

400

What to Rule Out When Considering Idiopathic Toe-Walking

Rule Out: Neurological/Sensory Processing Conditions - Autism, Tethered cord, hereditary spastic paraplegia, muscular dystrophy, Charcot-Marie-Tooth, spina bifida, SCI

Exam: Rule out neuro, measure ROM, gait assessment, gross motor skills/balance/coordination

Treatment: PROM/AROM, functional activities, orthotics and/or serial casting, stretching, gait training

500

Differential Diagnosis of Limping at Different Ages

Birth - 5 years: osteomyelitis, septic arthritis, transient synovitis, fractures, tumors

5-10 years: Legg-Calve-Perthes Disease, Discoid Lateral Meniscus, Sever Disease, Growing Pains

10-15 years: Slipped Capital Femoral Epiphysis (SCFE), Osgood-Schlatter, Osteochondritis Dissecans (OCD)

Spinal Conditions

100

Definitions of Scoliosis + Clinical Exam

Idiopathic Scoliosis: coronal plane curvature with vertebral rotation; infantile -- birth - 3 years --> least common; juvenile -- 4-9 years; adolescent --10 years old - maturity --> most common

Neuromuscular Scoliosis: Associated with neuromuscular disease at any age, rapid progression 

Congenital Scoliosis: vertebral anomolies durin in-uterp development, often coincid with other organ abnormalities, may lead to scoliosis, kyphosis, lordosis; may be stable or require surgery

Clinical Exam: Adam's forward bend test, postural assessment, leg length, x-rays (determines location, type, magnitude and skeletal age

200

How to Describe Scoliotic Curves

R vs L: described based on side of convexity

Location: described based on which vertebrae are primarily affected by curve

EXAMPLE 

300

Treatment Options for Idiopathic Scoliosis

Non-Surgical: serial casting --> short-term, early onset forms, orthotic devices --> most common treatment, curve 25-45 deg, wear 23 hours/day, prevents progression only, spinal orthoses -->TLSO, CTLSO, exercise, Schroth method

Surgical: posterior spinal fusion, -- for curves >45 deg, wait util near skeletal maturing to maximize growth and pulmonary development, growing rods available, acute PT - body mechanics education, log roll, transfers, gait, mobility

400

Treatment Options for Neuromuscular Scoliosis

Non-Surgical: Regular Screening, bracing typically does NOT prevent progression, but helps provide trunk support, custom molded seat

Surgical Treatment: Goals - improve pulmonary status, trunk balance, transfers, longer instrumental to prevent recurrent deformities, longer healing times (3-9 months)

500

Compare/Contrast Causes and Treatment of Kyphosis

Congenital: surgery

Scheuerman's Disease: exercise, possible CTLSO brace, and surgery

Postural Roundback: exercise, possible bracing

Torticollis and Plagiocephaly

100

Etiology and Pathophysiology

Etiology: Research inconclusive, likely multifactorial 

Pathophysiology: unilateral shortening of SCM, cervical lateral flexion toward involved side, cervical rotation away from involved side

200

Common Presentations of Torticollis

Sternocleidomastoid Tumor: fibrotic mass in muscle belly (25-55% of cases) -- sometimes present bilaterally

Muscular Torticollis: No palpable tumor present, orthopedic concerns -- hip, foot/ankle, spine, postural asymmetries, functional/gross motor asymmetries, muscle imbalances, delayed motor milestones, cranial deformities (plagiocephaly)

Postural Torticollis: presents posturally as congenital Muscular Torticollis, but no SCM tumor or muscle tightness, causes can include -- postural asymmetry, asymmetrical muscle function, benign paroxysmal torticollis, congenital absence of 1+ cervical muscles or of transverse ligament, or contracture of other neck muscles 

300

Grades of Severity of Torticollis

Grade 1: Early mild -- Age 0-6 months - ROM differences < 15 deg

Grade 2: Early Moderate -- 0-6 months - ROM difference 15-30 deg

Grade 3: Early Severe -- 0-6 months - ROM difference >30 deg (or with SCM mass)

Grade 4: Later Mild -- 7-9 months - ROM difference < 15 deg

Grade 5: Later Moderate -- 10-12 months - ROM difference < 15 deg

Grade 6: Later Severe -- 7-9 months - ROM difference 15-30 deg + OR 10-12 months with ROM difference 30 deg

Grade 7: Later Extreme -- 7-9 months with SCM mass OR 10-12 months - ROM difference 30 deg +, SCM mass

Grade 8: Very Late -- > 12 months, postural, muscle tightness, OR SCM mass

400

PT Interventions 

Prone/tummy time

Positioning/Repositioning --> car seat, baby carriers sleeping

Warm-up exercises --> shoulder depression, trunk stabilization, spinal stretch, bilateral AROM, neck stretches, hip stretches --> for older baby (>20-22 months, strength and development 

500

Discharge Criteria and Goals

Full PROM bilateral cervical rotation and lateral flexion

Full and symmetrical bilateral cervical rotation and lateral flexion AROM without compensation 

Symmetrical and age-appropriate head and trunk righting

Maintains head/neck posture in midline 90-95% of the time in all developmental positions 

Symmetrical gross motor skills

HEP --> continue up to 3-6 months