Pediatrics Diagnoses

Arthrogryposis Multiplex Congenita (AMC)

S&S

• Cylinder like extremities w/ minimal definition

• Joint contractures

• Dislocation of joints

• Muscle atrophy

Treatment

• Possible surgical intervention

PT treatment

• Stretching

• Positioning 

• Splinting

• Adaptive equipment

• Strengthening

Autism Spectrum Disorder

S&S

• Speech problems (nonpurposeful, absence of speech)

• Diminished facial expressions

• Poor understanding of non-verbal cues

• Poor social interactions

• Lack of empathy

• Repetitive self-stimulating behaviors

• Routines/rituals

• Decreased coordination

• Many have exceptional talents with music, art, and academics

Treatment

• Multidisciplinary 

• Improve social communication

• Decrease non-purposeful vocalizations 

PT treatment

• Decrease non purposeful movements

• Sensory integration

• Balance

• Coordination

• Strengthen

Cerebral Palsy

S&S

• Varies from mild/undetectable to severe loss of motor control and intellectual disability

• Abnormal muscle tone

• Impaired mobility

• Abnormal reflexes present

• Impaired modulation of movement  

Treatment

• Possible surgical intervention for orthopedic management and spasticity reduction

• Pharmacological intervention

PT treatment

• Stretching 

• Strengthening

• Motor learning 

• Developmental milestones

• Positioning 

• WB activities

• Mobility

Down Syndrome

S&S

• Intellectual disability 

• Hypotonia

• Joint hypermobility

• Atlantoaxial instability 

• Flattened nasal bridge 

• Narrow eyelids

• Small mouth

• Feeding impairments

• Flat feet

• Scoliosis

• Congenital heart disease

• Vision and hearing loss

Treatment

• Pharmacological intervention 

• Achieve maximum potential is overall goal

• Learning strategies 

PT treatment

• Avoid compensatory patterns 

• Tone management 

• Increase strengthen, minimize laxity 

• Maximize respiratory function

Duchenne Muscular Dystrophy

S&S

• Progressive weakness

• Low interest in running

• Falling

• Toe walking

• Excessive lordosis

• Pseudohypertrophy of muscle groups

Treatment

• Maintaining function as long as possible

• Pharmacological intervention

• Respiratory care

• Emotional support

PT treatment 

• Developmental milestones

• Maintaining strength

• Encourage mobility

• Adapt to loss of function

• Promote family involvement in home program

• Orthotic/adaptive devices

Prader Willi Syndrome

S&S

• Small hands, feet and sex organs

• Hypotonia

• Almond-shaped eyes

• Obesity

• Constant desire for food

• Coordination impairments

• Intellectual disability 

Treatment

• Human Growth Hormone (HGH)

PT treatment 

• Postural control

• Fitness

• Exercise

• Gross motor skills

Spina Bifida

S&S

• Motor loss below lesion

• Sensory deficits

• Hydrocephalus

• Clubfoot

• Scoliosis

• Arnold-Chiari Type II malformation

• Osteoporosis

• Tethered cord syndrome 

• Bowel and bladder dysfunction 

• Learning disabilities

• Latex allergy

Treatment

• Surgical closure of neural tube defect

• Medical management of bowel and bladder dysfunction 

PT treatment

• Positioning 

• ROM

• Handling

• Developmental milestones

• Skin care

• Strengthening 

• Balance

Spinal Muscular Atrophy (SMA)

S&S

• Progressive muscle weakness

• Muscle atrophy

• Diminished (or absent) DTRs

• End-stage respiratory compromise 

• Sensation intact

• Cognition intact

Treatment

• Symptomatic treatment 

• Prevent pulmonary infection/orthopedic problems

• Percussion/postural drainage 

PT treatment

• Positioning 

• Visual/Vestibular stimulation 

• Mobility training 

• Assistive devices 

• Adaptive equipment

Congenital Hip Dysplasia

S&S

• Asymmetrical hip abduction

• Tightness and shortening of femur on affected side

Treatment

• Open reduction

• Hip spica cast

• Harness

• Bracing

• Splinting 

• Traction

PT treatment

• Stretching 

• Strengthening 

• Caregiver education

Congenital Torticollis

S&S

• Lateral cervical flexion (to same side)

• Cervical rotation (to opposite side)

• Facial asymmetries 

Treatment

• Surgical release only if conservative management is unsuccessful

PT treatment

• Stretching

• ROM

• Positioning 

• Caregiver education 

Juvenile Rheumatoid Arthritis

S&S

• Systemic (least common)

Acute onset

High fevers

Rash

Spleen and liver enlargement 

• Polyarticular JRA

Arthritis in more than 4 joints

Females > males

Significant rheumatoid factor 

Symmetrical joint involvement 

• Oligoarticular JRA (most common)

Effects less than 5 joints

Asymmetrical joint involvement

Treatment

• Pharmacological management (for inflammation and pain)

• Pain management

• Surgical intervention for pain, contractures or irreversible joint destruction 

PT treatment

• PROM/ROM

• Positioning 

• Splinting 

• Strengthening 

• Endurance training 

• Functional mobility

• Postural training 

• WB activities

Legg-Calves-Perthes

S&S

• Pain

• Decreased ROM

• Positive trendelenburg sign

• Antalgic gait

• Necrotic head of femur

Treatment 

• Pain management

• Maintain femoral head 

• Improve ROM

• Possible surgical intervention

• Orthotic devices

PT treatment

• Stretching 

• Splinting

• Aquatic Therapy

• Traction

• Crutch training 

Osteogenesis Imperfecta

S&S

• Pathological fractures

• Osteoporosis

• Hypermobility 

• Weakness

• Scoliosis 

• Impaired respiratory function

• Bowing of long bones

Treatment

• Begins at birth

• Facilitation of movement

PT treatment

• AROM

• Positioning 

• Functional mobility 

• Fracture management

• Use of orthotics/wheelchairs

Scoliosis

S&S

• Asymmetry of shoulders

• Possible rib hump

• Pain due to pressure/abnormal forces on other tissues 

Treatment

• Depends on severity, may not need treatment

• Surgical intervention possibile with <50 degree curve 

PT treatment

• Muscle strengthening 

• Flexibility exercises

• Shoe lifts

• Bracing 

• Spinal orthosis for curves between 25-40 degrees

Cystic Fibrosis

S&S

• Salty tasting skin

• Persistent productive cough 

• Frequent lung infections

• Wheezing

• SOB

• Poor growth/weight gain

• Frequent greasty, bulky stools

Treatment

• Meds (antibiotics, nutritional supplements, bronchodilators, etc)

• Lung transplant 

PT treatment

• Airway clearance

• Breathing techniques

• Ventilatory muscle training 

• Strengthening/endurance training

Delayed Milestone/Prematurity

S&S

• Birth less than 37 weeks gestation considered premature

• 22-23 weeks is age of viability 

Treatment

• Respiratory function 

• Feeding tube if needed

PT treatment 

• Treat deficits so they catch up to peers

• Meet milestones

Hydrocephalus

S&S

• Enlarged head or bulging fontanelles

• Headache

• Vision changes

• Behavioral changes

• Seizures

• Alteration in appetite, vomiting 

• Incontinence 

Treatment 

• Medical intervention to alleviate excessive fluid

• Shunt placement 

PT treatment 

• Treat deficits 

• Be aware of signs and symptoms of shunt malfunction