Pediatric: Conditions

Autism Spectrum Disorder (ASD)

a developmental disability that can pose social, communication, and behavioral challenges for the client; signs and symptoms include…impacts (1) communication, (2) social, and (3) activity performance function and occupations

• atypical social communication and interaction skills; e.g.,

  • avoiding or not keeping eye contact

  • not responding to name

  • not sharing interests with others and/or noticing other children

• restricted or repetitive behaviors or interests; e.g.,

  • lining up toys

  • repeating words/phrases over and over

  • has obsessive interests

• delayed language skills

• delayed movement skills

• delayed cognitive or learning skills

• hyperactive, impulsive, and/or inattentive behavior

• epilepsy or seizure disorder

• unusual eating and sleeping habits

• gastrointestinal issues (e.g., constipation)

• unusual mood or emotional reactions

• anxiety, stress, or excessive worry

• lack of fear or more fear than expected

Autism Spectrum Disorder (ASD):

Concepts and Clinical Reasoning + Interventions

Concepts and Clinical Reasoning

• observation is helpful for evaluation

• interviews can provide additional information for areas of concern

• promote inclusion in the classroom for behavioral issues

• use a collaborative multidisciplinary approach to intervention, including the parents

• utilize assistive technology as needed

  • e.g., AAC devices to support communication (like PECS= Picture Exchange Communication System)

• structure is often helpful, e.g.,

  • timers,

  • routine,

  • visual activity schedules,

  • clear physical boundaries

• incorporate planned breaks as needed

• promote skill generalization in different settings

• prepare for the client’s transitions between activities

• utilize modeling and video interaction

• provide interventions for sleep problems

• facilitate transition to adult services

Interventions

1. Behavioral

• most popular is Applied Behavior Analysis

• Discrete Trial Training (DTT)

• Functional Communication Training (FCT)

• Pivotal Response Training (PRT)

2. Developmental (Early Intervention)

• SLP

• OT (for sensory integration and physical skills (FM, GM)

3. Educational

• in classroom setting

• e.g., TEACCH approach (Treatment and Education of Autistic and Related Communication-Handicapped Children)

4. Social Skills Training, e.g.,

• floor time

• social stories

• social skills groups

• modeling

5. Pharmacological

• for hyperactivity, anxiety, self-harming; also depression, seizures, sleep problems, GI problems

6. Psychological

• for anxiety, depression, etc. (e.g., CBT)

7. Visual Supports, e.g.,

• schedules

• structured work tasks

8. Play Therapy

• also important for social skills training, such as with peers

9. Sensory Integration

Cerebral Palsy (CP)

non-progressive (symptoms don’t worsen with age) neurological disorder of the CNS, also known as static encephalopathy, that happens due to a lesion in the developing brain

• it can affect…though symptoms may change even though the disease itself does not progress

  • motor function/movement/coordination

    • early signs: stiffness, floppiness/poor posture, atypical reach (favoring 1 side of the body), difficulty with rolling, atypical crawling

    • people often experience: spasticity, rigidity, ataxia, tremors, slow movements

    • gait presentations: toe walking, crouched gait, scissored gait, widened gait, asymmetric gait

    • functionally: may have difficulty with walking, FM skills, school, and other daily ADLs

  • speech/swallow, feeding impairments

    • speech delays, dysarthria, dysphagia, excessive drooling

  • development

    • delayed motor milestones

    • growth (i.e., smaller physical size)

  • other associated symptoms

    • cognition (learning + intellectual learning difficulties) + language

    • impacted senses

      • vision (e.g., nystagmus, strabismus (i.e., misalignment of the eyes/cross-eyed), hearing, smell, touch, pain

    • psychosocial

      • behavioral problems and family stressors

    • bowel and bladder

    • epilepsy, seizures

• treatment team: MD, specialist, PT, OT, SLP, psychologist, RN, SW

• serviced by IDEA Parts B and C

  • B: school-aged children, 3-21 yrs

  • C: early intervention (EI, birth-36 months/3 yrs)

• outcome measures

  • *COPM

  • *Goal Attainment Scaling

  • *PEDI

  • *Activity Card Sort (Adult and Pediatric Versions)

  • Sensory Profile

  • Modified Ashworth Scale

  • **WeeFIM

  • Child Health Questionnaire (CHQ)

  • ***ABILHAND Kids

  • Erhardt Developmental Prehension Assessment

  • Box and Blocks

  • Peabody Developmental Motor Scale (PDMS)

  • Bayley Scales of Infant and Toddler Development

  • Bruininks-Oseretsky Test of Motor Proficiency (BOT)

*most related to top-down approaches

**most related to ADL function

***most related to measuring FM skills for functional activities (e.g., opening a jar)

Cerebral Palsy (CP): types

• types:

  • congenital:

    • result of an injury or disease that occurs at or before birth

    • suspected causes: CVA, cerebrovascular accidents/trauma (e.g., fetomaternal hemorrhages, brain bleeds), anoxia, placental abruption, placental infarction, exposure to environmental toxins

    • risk factors: low birth weight, premature birth, multiple birth history, infertility treatments, medical complications

      • prematurity accounts for the majority of cases of congenital CP because of the increased sensitivity of the CNS before full-term birth

      • infants born between 26 and 32 weeks of gestation are at particular risk

  • acquired:

    • often thought to be preventable

    • as a result of injuries and infections

      • poor blood flow, hypoxia, metabolic disorders, CNS infections, trauma (e.g., car accidents, falls, child abuse, near drowning), intracranial hemorrhage

• types (pt. 2):

  • spastic (70-80%)— motor cortex

  • athetotic-dyskinetic (10-20%)— basal ganglia

  • ataxic (5-10%)— cerebellum

  • mixed (<5%)

Cerebral Palsy (CP): types- spastic

increased muscle tone, resulting in the difficulty of movement and functions

• 70-80%

• motor cortex involvement

• types of CP

  • hemi,

  • quad,

  • diplegia

• legs are more affected

Cerebral Palsy (CP): types- athetotic-dyskinetic

results in varying tone

• 10-20%

• basal ganglia involvement

• types of CP

  • athetoid: meaning slow, writhing, uncontrollable movement

  • choreoathetoid: combination of ^ athetoid (slow, writhing, uncontrollable movements) and “choreo” (rapid, jerky, involuntary movements)

  • can also affect the face and tongue in addition to the extremities

Cerebral Palsy (CP): types- ataxic

results in problems with balance and coordination, characterized by a wide, staggering, unsteady gait that causes someone to walk very quickly to maintain their balance (e.g., ataxia with walking); though it can also affect FM skills too (e.g., reaching, writing) 2/2 sudden quick movements > controlled ones

• 5-10%

• cerebellum involvement

Cerebral Palsy (CP): types- mixed

results in a combination of symptoms in more than 1 type of CP

• <5%

• common type: spastic-dyskinetic CP

Cerebral Palsy (CP): terminology

• hemiplegia

• quadriplegia

• diplegia

• spasticity

• flaccidity

• rigidity

• athetosis

• choreoathestosis

• dyskinesia

• hemiplegia=

  • paralysis or significant motor impairment affecting one side of the body (arm and leg), typically due to injury to 1 side of the brain

• quadriplegia (i.e., tetraplegia)=

  • motor impairment affecting all 4 limbs (both arms and legs), often involving the trunk and sometimes facial muscles

• diplegia=

  • like quadriplegia (motor impairment affecting all 4 limbs) but with mild upper extremity involvement, and more involvement in the lower extremities (i.e., legs more severely affected than the arms)

  • common in spastic CP

• spasticity=

  • an increase in tone and exaggerated reflexes; causing stiffness and resistance to movement (—> muscles may be difficult to stretch)

  • more resistance in 1 direction than the other direction

  • people with CP typically progress from flaccidity —> to spasticity

  • most common type of CP

• flaccidity=

  • decreased muscle tone (hypotonia), resulting in weak, floppy muscles and poor postural control

• rigidity=

  • increased muscle tone causing constant resistance throughout ROM that is independent of speed/velocity of movement and the same resistance in all directions

• athetosis=

  • slow, involuntary, writhing movements, particularly in the hands, fingers, and face; i.e., fluctuation of tone from low tone to normal tone

• choreoathestosis=

  • combination of chorea (rapid, jerky, involuntary movements) + athetosis (slow, writhing movements); i.e., fluctuation of tone from low tone to high tone

  • commonly associated with dyskinetic CP

  • mnemonic: with “choero”, you jump and reach HIGHER (tone)

• dyskinesia=

  • umbrella term for abnormal, involuntary, and/or uncontrolled movements that interfere with purposeful movement; includes:

    • chorea

    • athetosis

    • dystonia

Cerebral Palsy (CP): intervention

overall goal: gain control over symptoms and one’s environment

• medical management includes

  • pharmacological

    • e.g., Baclofen, Valium

  • injections into spasticic muscles

    • e.g., Botox

  • orthotics and casting to prevent contractures

    • e.g., AFOs for spasticity

    • e.g., lower limb casting

  • positioning

  • surgical

• strong evidence/recommended practices

  • goal-directed and functional training

  • context-focused therapy=

    • modifying the task or environment to help the child succeed, rather than trying to change the child’s underlying impairment

  • bimanual training=

    • practice using both extremities during functional activities through repetition

  • Constraint-Induced Movement Therapy (CIMT)=

    • restrict the less-affected arm/hand so the child is encouraged to repeatedly use the more-affected limb during functional activities (e.g., putting a mitt on the stronger hand while practicing grasping toys with the weaker hand)

  • home program + caregiver education

• use with caution/avoid; lower support

  • NDT

  • SI (sensory integration), e.g., hammock swing

  • sensory processing

  • massage

Osteogenesis Imperfecta (OI)

a genetic disorder characterized by fragile bones that break easily, leading to associated deformities; it is referred to as brittle bone disease, with severity depending on the type of OI

• caused by dominant genetic defects or recessive mutations

  • dominant (classical) OI is 2/2 too little type 1 collagen or poor quality due to mutation of its genes

  • recessive OI is 2/2 mutations in other genes that interfere with collagen production, resulting in bones that break easily

• types

  • I: mild

  • II: most severe

  • III: severe

  • IV: moderate

  • V: moderate

  • VII: severe— recessive gene form

  • VIII: vere severe— recessive gene form

• complications

  • ambulation

  • spine curves

  • dental problems

  • hearing loss

  • vision problems

  • cardiac

  • basilar invagination= top of the 2nd vertebrae moves upward

Osteogenesis Imperfecta (OI): treatment

there is no cure; treatment is focused on prevention and symptom management, with goals being to maximize independent mobility and develop optimal bone mass and muscle strength

• therapy for mobility and function; for OT specifically

  • listen

  • address weakness; set goals

  • address the fear of fractures

  • address and modify the environment

  • provide AE and AT

  • practice safe handling

  • use functional assessments

  • address sports and exercise considerations

  • provide problem-solving for self-care tasks

  • prevent joint contractures

  • prevent malalignment

  • improve function for PADLs, transfers, and ambulation

  • modify and provide graded activities

  • encourage and provide problem-solving opportunities

  • address psychosocial barriers, e.g., depression, anxiety

• overall health management

  • exercise to promote muscle and bone strength

    • walking, swimming, and water therapy are good exercise choices, w/ little risk of fractures

  • children will benefit from maintaining a healthy weight and eating a nutritious diet

  • avoid smoking, alcohol, caffeine, and taking steroids as they deplete bone density and cause fragility

  • restrict intense physical activity

• rodding is considered, by the insertion of metal rods the length of the bone to strengthen them

  • intramedullary fixation: surgically fixed length rod that helps fractures to heal and avoid/correct deformities; however, as the child grows, they are at risk for fracturing the leg below the rod

• medications: growth hormone

• gene therapy

• spinal fusion for scoliosis

• precautions

  • don’t pull or push a limb, or bend it

  • use caution when taking blood pressure; avoid automatic blood pressure cuffs

  • if a fracture is suspected, minimize handling of the affected limb

  • respect the opinions, advice, or instructions provided by parents or family

  • don’t lift a baby from under the armpits

  • don’t life by the ankles to change dia[er; slide a hand under the buttocks instead

• prognosis

  • varies depending on the # and severity of symptoms

  • respiratory failure is a common cause of death

  • accidental trauma is the 2nd most common cause of death

Osteogenesis Imperfecta (OI): type I

mild; normal collagen structure, but less than the normal amount

• bones are likely to break from mild-moderate trauma

• no change or only slight changes to stature

  • mild or no bone deformity

• loose joints and muscle weakness

• triangular face

• blue, purple, or gray tint to the sclera (whites of the eyes)

• possible changes to the strength and color of teeth

• possible hearing loss

• curved spine with potential for compression of the vertebrae (spinal bones) with aging

Osteogenesis Imperfecta (OI): type II

MOST SEVERE: frequently causes death at birth or shortly after, because of the inability to breathe 2/2 improperly formed collage

• numerous broken bones develop before birth while the baby is still in the womb

• severe bone deformities

• very small stature

• underdeveloped lungs

• blue, purple, or gray tint to the sclera

Osteogenesis Imperfecta (OI): type III

most severe type among those who survive the neonatal period and usually results in the greatest number of physical disabilities, with improperly formed collagen

• easily broken bones with very little trauma over a lifetime

• small stature

  • poor muscle development in arms and lengths

  • barrel-shaped rib cage

  • often severe bone deformity

• loose joints

• triangular face

• blue, purple, or gray tint to the sclera

• possible changes to the strength and color of teeth

• possible hearing loss

• possible lung problems that worsen with age

Osteogenesis Imperfecta (OI): type IV

moderate w/ improperly formed collagen

• bones break easily, sometimes before birth, with most broken bones occurring before puberty

• smaller than average stature

  • mild-moderate bone deformity

  • vertebra compression or collapse

  • barrel-shaped rib cage

• while or blue tint to the sclera

• triangular face

• possible changes to strength and color of teeth

• possible hearing loss

Osteogenesis Imperfecta (OI): type V

moderate: clinically similar to type IV OI in appearance and symptoms

• a dense band is seen on X-rays by the cartilage growth plate of the long bones

• usually large calluses, called hypertrophic calluses, at the sites of fractures or surgical procedures

• calcification of the membrane between the radius and ulna (the bones of the forearm), results in restricted arm movement

• “mesh-like” appearance to bone when viewed under the microscope

  • changes in the minerals in the bone

• possible loose joints

• white sclera

• no changes to teeth

Osteogenesis Imperfecta (OI): type VI

severe— recessive gene form, resembling type II and III OI in appearance and symptoms

• small stature

  • short humerus and short femur

  • possible smaller head size

• changes in the process of forming collagen

• white sclera

Osteogenesis Imperfecta (OI): type VII

very severe— recessive gene form, resembling type II and III OI in appearance and symptoms

• small stature

  • short humerus and short femur

  • possible smaller head size

• changes in the process of forming collagen

• white sclera

Achondroplasia

dwarfism— characterized by a disorder of bone growth caused by a gene mutation of a protein that is involved in converting cartilage to bone

• most people who have the condition have average-sized parents

• other people inherit the condition from a parent who has achondroplasia

• most will have a normal or near-normal life expectancy

• increased risk of premature death is related to cardiovascular complications in mid-adult life

• no cure

• symptoms

  • small stature w/ short limbs

  • macrocephaly

  • midfacial retrusion (2/2 underdevelopment of the bones of the face resulting in the flattening of the entire midface and nasal bridge)

  • small chest

  • thoracolumbar kyphosis

  • lumbar hyperlordosis

  • limited elbow extension

  • short fingers and trident configuration of the hands

  • hypermobile hips and knees

  • bowing of the legs

  • hypotonia

• complications

  • middle ear infections

  • obstructive sleep apnea (more than 50% of patients)

  • pulmonary complications

  • brainstem compression and intracranial hypertension

  • ventriculomegaly

  • obseity

  • back pain

  • peripheral nerve compression

  • suddent infant death (rare)

  • hydrocephaly (rare)

• impact on occupations

  • delayed development of gross motor and ambulatory skills more common > than delays in early communication, FM, and feeding skills

  • ADLs and self-care

  • school participation

• outcome measures

  • Functional Independent Measure for children (WeeFIM)

Achondroplasia: treatment

no specific treatment is available, and no medications or supplements are recommended either; however, patients are monitored for growth and potential complications

• surgical limb lengthening may improve body proportions but has a high rate of complications

• OT

  • health management to avoid obesity in early childhood

  • promote increase in func. skills and independence (e.g., self-care skills)

  • interventions for socialization and social adjustment

  • interventions for motor and postural deficits

  • strategies to address bullying (including cyberbullying on social media)

  • interventions for psychosocial conditions, e.g., depression, anxiety, drug use, suicidal ideation

  • strategies to maintain independence with ADLs, transfers, locomotion, and stairs

  • enhance client’s perception of self-image and increase self-esteem

  • education (+ to parents too)

    • avoiding risky physical activities and sports; violent neck movement creates the most risk, and helmets are not preventative

    • avoiding activities that induce subluxation in the shoulders (e.g., butterfly stroke in swimming + deadlifting of weights)

    • parents should continue to use rear-facing car seats for as long as tolerated

    • energy conservation techniques for limited endurance and chronic pain to minimize dependence on helps

  • preventing injuries and harm 2/2 seizures

  • promote rest and sleep + referring to specialists for obstructive sleep apnea and breathing problems

  • provide good back support and emphasize prone positioning (“tummy time”) to reduce the risk of kyphosis progression

  • low back and lower abdominal muscle strengthening and pelvic rotations may diminish the severity of hyperlodosis

  • practice proper body mechanics to minimize spinal complications

  • pain management w/ rest, warmth, massage, and NSAIDS may help for knee hypermobility

  • prescribe AD for function, such as limited elbow ROM

  • humeral lengthening may be effective to maintain function with perineal hygiene

  • allow extra time and provide alternatives to handwriting 2/2 wrist hypermobility (e.g., free-flowing pens and markers, larger grips, wrist stabilizing braces)

  • allow extra time for taking tests in school

  • promote comfortable seating in school w/ modifications to ensure proper feet and back support

  • teach perineal hygiene by getting off the toilet, bending forward, reaching between the legs, and wiping front to back; commercial toileting aids may be helpful

  • vehicles may be modified to accommodate the physical limitations of using hand controls and foot pedals

  • modify the environment and place frequently used things in easier-to-reach places

Marfan Syndrome (MFS)

a genetic disorder that affects the body’s ability to make healthy connective tissue, leading to problems of development with bones, muscles, organs, and tissues of the body

• people inherit the disorder from their parents; or 3 out of 4 cases

• some people are the first in the family to have it 2/2 spontaneous mutation

• affects men and women and all races and ethnic groups

• cognitive ability is usually within the typical range of the general population

• symptoms

  • abdominal pain

  • arms, legs, fingers, and toes are much longer in relation to the rest of the body

  • loose, painful joints/joint laxity

  • contractures

  • convex/convave chest (caves in or sticks out)

  • curved spine/scoliosis

  • low back pain

  • numbness in legs

  • flat feet

  • headaches

  • long narrow face

  • highly arched mouth that can lead to crowding of teeth

  • loose skin + stretch marks on the skin

  • poor feeding

  • early-onset and rapidly progressive features related to the heart, lungs, and airways

    • cardiac prolapse and leakage through the valves that can lead to heart failure

    • abnormal heartbeat (skipping, fluttering, beating too hard or too fast)

    • shortness of breath 2/2 changes in lungs or heart

  • vision changes

    • blurry vision and extreme nearsightedness

    • cataracts

    • glaucoma

  • low self-esteem

  • often a severe case on the spectrum, but depends on the features of the individual components

• impact on occupations

  • students often spend more time on medical appointments and tests

  • additional time may be spent due to surgery, physical rehab, and other types of treatment (e.g., psychosocial) —> resulting in missing time from school, school-related activities, and socialization participation

  • may struggle with disappointment when feeling left out from play, sports, or leisure activities

  • may get unwanted attention 2/2 appearance (e.g., height)

  • difficulty keeping up with peers (e.g., in sports, leisure, friendships, and relationships)

  • students may avoid social activities with peers 2/2 low self-image

  • leisure activities may be exhausting for students

  • schoolwork and work may be difficult 2/2 physical demands

• outcome measures

  • Borg RPE Scale (Fatigue)

  • Brief Pain Inventory (BPI)

Marfan Syndrome (MFS): treatment

treatment depends on the extent and areas affected; general health management may include:

• medications

• surgery

• regularly seeing a doctor

• seeking help from a mental health professional

• eating healthy

• avoiding smoking

• OT

  • may have an Individualized Education Plan (IEP) as required by the Individuals with Disabilities Education Act (IDEA)

  • may have a 504 plan for special accommodations in school

  • may receive special education and related services

  • school goals:

    • independence in school settings

    • increased acceptance and self-esteem

    • increased knowledge of disease process

    • utilize coping skills

    • prevention of additional physical injury

    • communication effectively with the team

  • address fatigue and pain

  • address restritions on lifting (e.g., books, backpacks)

  • provide an alternative to strenuous activities to not exceed excessive heart rate or blood pressure

  • adjust the schedule to allow for rest

  • allow additional time to get to classes

  • use AT to minimize physical exertion

  • modify the PE curriculum or provide an alternative to PE class

  • provide accommodations for seating and comfort

  • minimize long-distance walking

  • address handwriting; limit the need for it

  • provide support for wheelchair accessibility, seating, and function

  • address psychosocial implications and body image issues

  • provide large-print assignments, tests, and books

  • materials should have good contrast

  • be understanding of absences 2/2 medical treatments

  • ensure access to emergency inhaler for asthma

  • allow extra time to complete assignments 2/2 symptoms like headaches

  • interventions to promote medication compliance

  • educate staff about signs of medical emergencies:

    • aortic dissection

    • spontaneous pneumothorax (collapsed lung)

    • detached retina

    • psychological emergencies

  • provide opportunities for self-monitoring techniques

  • instruct in safe levels of intensity and duration

  • instruct on relaxation techniques, safety, and therapeutic breathing

  • improve eye-hand and eye-foot coordination, and visual tracking

  • improve FM, GM, balance, spatial, and body awareness

  • ensure orthotics are properly worn and provide suitable padding

  • modfiy the environment to ensure

    • safety

    • proper padding

    • no obstacles or hazards

    • proper illumination

  • use brightly colored objects with good contrast

  • familiarize student with the play area first

  • refer to appropriate health professional based on specific needs

• EBP

  • online self-management programs may help be autonomous in treatment

  • individuals suffering from body image issues may benefit from treatments designed to improve other quality of life domains

  • a systematic review found anxiety or depression to be commonly mentioned for people with MFS

• exercise

  • warm-up and cool-down

  • monitor student closely

  • non-competitive is better

  • divide activities into multiple sessions with breaks

  • say at about 50% aerobic level

  • encourage students to ask for help (e.g., carrying heavy objects)

  • avoid isometrics (e.g., weightlifting, pull-ups)

  • multiple repetitions with low resistance or weight is better than few repetitions with larger weight

  • don’t test limits

  • avoid rapid changes in atmospeheric pressure (e.g., scuba diving, flying)

• general precautions

  • some career choices may be restricted

  • certain sports should be avoided (e.g., contact)

  • avoid long-distance running

  • avoid gymnastics

  • avoid climbing

  • avoid scuba diving

  • avoid activities that place a strain on the joints to minimize the risk of joint injury

  • avoid activities that can place a strain on the heart and increase the risk of aortic tears