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What is the key collagen defect in classic Ehlers-Danlos Syndrome (EDS)?
Type V collagen defect.
Which EDS subtype carries a high risk for arterial rupture?
Vascular EDS (vEDS).
What distinguishes hypermobility EDS (hEDS) from other types?
Joint hypermobility with frequent dislocations and unknown etiology.
What are common impairments seen in Juvenile Idiopathic Arthritis (JIA)?
Joint swelling, stiffness, pain, fatigue, and decreased ROM.
What subtype of JIA often starts with fever and rash?
Systemic JIA.
What autoimmune disorder causes proximal muscle weakness and a rash in children?
Juvenile Dermatomyositis.
What physical therapy consideration is important in children with Juvenile Dermatomyositis during active inflammation?
Avoid resistive exercise; focus on gentle ROM.
What genetic disorder results in fragile bones and blue sclera?
Osteogenesis Imperfecta.
What vitamin deficiency leads to rickets?
Vitamin D deficiency.
What pathology causes bowing of the legs in overweight children due to tibial growth issues?
Blount Disease.
What pediatric disease presents with pain and deformity due to Vitamin C deficiency?
Scurvy.
What are three key physical exam signs for developmental dysplasia of the hip (DDH)?
Ortolani, Barlow, and Galeazzi signs.
What condition involves avascular necrosis of the femoral head in children aged 5-7?
Legg-Calvé-Perthes Disease.
What hip disorder is most common in obese adolescents and causes ER of the hip during flexion?
Slipped Capital Femoral Epiphysis (SCFE).
What congenital condition results in severe joint contractures and muscle weakness at birth?
Arthrogryposis Multiplex Congenita.
What are the 4 characteristic deformities of clubfoot (CTEV)?
Cavus, adductus, varus, equinus.
What foot condition presents with forefoot deviation toward the midline but often resolves spontaneously?
Metatarsus Adductus.
When should flexible pes planus be treated?
Only if it causes pain or functional problems.
What Salter-Harris fracture types cross the growth plate and epiphysis, increasing risk of growth arrest?
Types III and IV.
What pediatric fracture involves a partial break with bending on the opposite side?
Greenstick fracture.
What overuse condition causes anterior knee pain at the tibial tubercle in active adolescents?
Osgood-Schlatter Disease.
What overuse condition causes heel pain due to stress at the calcaneal apophysis?
Sever's Disease.
What are two main types of limb length discrepancy (LLD)?
Anatomical and Functional.
Name three causes of LLD.
Congenital, trauma, infection.
What causes Ehlers-Danlos Syndrome (EDS)?
Defective collagen synthesis (various types depending on subtype).
What are key impairments in classic EDS?
Hyperextensible skin and joints, atrophic scarring, easy bruising, delayed wound healing.
Which EDS subtype involves frequent joint dislocations?
Hypermobility EDS (hEDS).
Which EDS subtype has a risk of arterial, intestinal, or uterine rupture?
Vascular EDS (vEDS).
What EDS subtype involves scoliosis from birth and sclera fragility?
Kyphoscoliosis EDS (kEDS).
What type of collagen is abnormal in arthrochalasia and dermatosparaxis EDS?
Type I collagen.
What are activity precautions for children with EDS?
Avoid end-range, high-torque, skin trauma, and contact sports.
What defines Juvenile Idiopathic Arthritis (JIA)?
Arthritis of unknown origin before age 16, with six subtypes.
Which JIA subtype typically includes fever and rash at onset?
Systemic JIA.
What are complications of systemic JIA?
Organ inflammation, growth retardation, anemia, macrophage activation syndrome.
What defines persistent oligoarthritis?
Affects ≤4 joints, mostly lower extremities, usually asymmetrical.
What defines extended oligoarthritis?
Progression to more joints, more severe, may include upper extremities.
What defines RF-positive polyarthritis in JIA?
≥5 joints in first 6 months, symmetrical, often in adolescent females.
What are common PT considerations for JIA?
Pain management, ROM, joint protection, endurance, strength, education.
What is hemophilia?
X-linked bleeding disorder due to missing clotting factor.
What impairments may result from hemophilia?
Joint destruction, pain, ROM loss, muscle atrophy, nerve compression.
What is Juvenile Dermatomyositis?
Autoimmune condition causing proximal weakness, vasculitis, rash.
What are PT considerations for Juvenile Dermatomyositis?
Focus on ROM and gentle stretching; avoid resistive exercise during flare.
What is Juvenile Scleroderma?
Autoimmune disorder affecting skin and internal organs.
What impairments are seen in Juvenile Scleroderma?
Fibrotic skin thickening, joint/tissue contractures, posture/breathing issues.
What causes Arthrogryposis Multiplex Congenita?
In utero motor unit deficit → fetal immobility → contractures.
What are common contracture patterns in AMC?
Shoulder adduction/IR, elbow extension, wrist flexion, hip/knee flexion, clubfeet.
What is the primary pathology in Osteogenesis Imperfecta (OI)?
Type I collagen defect.
What are clinical signs of OI?
Fragile bones, blue sclera, hearing loss, short stature, scoliosis.
What causes scurvy in children?
Vitamin C deficiency.
What are clinical features of scurvy?
Frail bones, delayed growth, bleeding issues.
What causes rickets in children?
Vitamin D deficiency or lack of sunlight.
What is a key symptom of rickets?
Bowing of long bones under body weight.
What is scoliosis?
Curvature of the spine; can be structural or nonstructural.
What test is used to detect adolescent idiopathic scoliosis?
Adams forward bend test.
What is the Cobb angle?
Method to measure scoliosis curvature on X-ray.
What are treatments based on scoliosis severity?
<20° exercise, 20-40° bracing, >40° surgery.
What is Osgood-Schlatter disease?
Traction injury to tibial tubercle due to repetitive quad stress.
What is Sever's disease?
Heel pain due to repetitive stress on calcaneus (growth plate).
What is Developmental Dysplasia of the Hip (DDH)?
Pathological instability of the hip joint.
What are Ortolani and Barlow signs?
Tests for hip dislocation or instability in infants.
What is the Galeazzi sign?
Asymmetrical knee height indicating femoral shortening in DDH.
What is the Pavlik harness used for?
To hold hips in flexion and abduction for DDH management.
What is Legg-Calvé-Perthes disease?
Avascular necrosis of femoral head in children.
What are signs of Perthes disease?
Limp, hip/thigh/knee pain, limited IR and abduction.
What is SCFE?
Slipped capital femoral epiphysis; femoral head slips posteriorly.
What are signs of SCFE?
Groin pain, ER limb posture, limited hip flexion/IR.
What is the treatment for SCFE?
Surgical stabilization and PT for gait and strength post-op.
What is limb length discrepancy (LLD)?
Difference in leg lengths; can be anatomical or functional.
What are causes of LLD?
Congenital, trauma, infection, neurological, tumor.
What is Blount disease?
Tibial bowing due to growth disturbance, often in obese children.
What is clubfoot (CTEV)?
Congenital deformity: cavus, adductus, varus, equinus.
What are treatments for clubfoot?
Serial casting, bracing, stretching, sometimes surgery.
What is metatarsus adductus?
Forefoot adduction; often resolves without treatment.
What is pes planus?
Flexible flat feet; usually no treatment needed unless painful.
What is a Salter-Harris fracture?
Growth plate fracture; classified into types I-V.
Which Salter-Harris type has the worst prognosis?
Type V - compression injury of the growth plate.
What is a greenstick fracture?
Partial fracture in long bones where one side bends.