Coleman, OTH 5524, Fall 2010

COMMON PEDIATRIC DIAGNOSES

CEREBRAL PALSY

Description:
 A permanent impairment affecting automatic postural control and movement as a result
of a nonprogressive brain disorder (Bobath & Bobath, 1975; Moore, 1984; in Parham,
1997)
 Characterized by nonprogressive abnormalities in the developing brain that create a
cascade of neurologic, motor, and postural deficits in the developing child (Case-Smith)
 Multiple disorders that may have impacts on several areas of development, including
sensory processing, perception, cognition and social-emotional relationships

Etiology:
 Usually result of injury (IVH – Interventricular hemorrhage – brain bleed) or disease at
or before birth (congenital CP); CVA, developmental brain abnormalities, placental
abruption, fetomaternal hemorrhage, placental infarction, maternal exposure to
environmental toxins, maternal infections (cytomegalovirus, syphilis, varicella virus,
toxoplasmosis are secondary causes)
 Prematurity accounts for majority of congenital CP, may be due to the CNS’s
vulnerability to insult during gestational weeks 26-32 (increased risk for bleeding in the
brain)
 Injury in early childhood and exhibiting characteristics of CP may be classified as having
acquired CP, which is less common. Acquired CP may be the result of:
o Trauma
o Intercranial hemorrhage
o CNS infection
o Near drowning
o Hypoxia
o Metabolic disorders
o Severe jaundice – lack of oxygen, blood flow may occur and cause CP
 CP affects ability to move, maintain balance and posture

Incidence:
 1.4-2.4 of every 1000 births

Classification:
 According to type, severity and distribution of tone and abnormal movements. Location
of lesion in the brain affects the movement patterns exhibited by the child (Table 6-2)
 Muscle tone – the amount of resistance to movement in a muscle. Normal tone is high
enough to move against gravity, and low enough to allow freedom of movement
o Spastic– lesion in motor cortex (top of brain, just past half way mark) – 70-80%
of muscles are affected, movements are stiff
 Mild
 Moderate
 Severe

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o Athetoid (or dyskinetic)– lesion in the basal ganglia; slow, writing movements
that cannot be controlled; affects limbs, face, and tongue
 Pure
 With spasticity
 With tonic spasms
 Choreoathetosis
o Ataxia – lesion in the cerebellum; neurological sign and symptom that consists of
gross lack of coordination f muscle movements; implies dysfunction onf nervous
system that coordinates movement, such as the cerebellum; found in lesions in
cerebellum
o Flaccid / Hypotonic – low muscle tone
o Mixed – most common is spasticity and athetoid movements combined
 Classification by distribution of tone:
o Monoplegia – one extremity
o Hemiplegia – an UE and LE on the same side
o Paraplegia – the LE’s
o Tetraplegia or quadriplegia – All limbs, and the whole body, including face
o Diplegia – quadriplegia with mild UE impairment, and significant impairment of
LE’s
 **Proximal stability is necessary for good distal control.

Pathological processes:
 Although nonprogressive, impairments combined with normal aging/growth and gravity
may result in contractures and deformities and/or respiratory complications
 Functional limitations may be greater as child grows; one may note greater disability as
child gets older and “gap” between typical development and where child is functioning
becomes greater

Signs and symptoms:

 Child with CP shows difficulty maintaining normal postures due to lack of muscle
coactivation resulting in abnormal movement patterns for compensation
 Compensatory patterns develop in certain muscle groups to maintain upright postures
and move against gravity
 Lack of integration of primitive reflexes (ATNR) and automatic reactions
 Lack of normal muscle tone
 Hyperresponsive tendon reflexes
 Involuntary movements
 Movement asymmetry of extremities
 Motor delays

Associated problems:
 Language and cognitive deficits (mild to profound cognitive delays present in 50-75% of
children with CP; speech dysfunction in ~30%)
 Seizure disorders occur in ~50% (higher among children with spastic CP)
 Feeding problems associated with abnormal oral movement, tone, sensation, posture.

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 Sensory deficits: impaired vision, blindness, limited eye movements/eye tracking,

squinting, strabismus, weakness of eye muscles, incoordination of eye movements
(difficulty moving both eyes together), visual perception problems (~40-50% have visual
deficits of some kind); hearing impairment, auditory perception problems (~25% have
some type of auditory disturbance)
 Behavioral problems
 Psychosocial difficulties

CP has a huge economic impact. $921,000 more than non-disabled persons (birth to 18), not
including ER, outpatient, family out of pocket expenses

Diagnosis:
 Early diagnosis is vital to secure services for child and family, achieve greatest
developmental potential, prevent/decrease abnormal movement patterns, preventing
secondary disabilities
 Team of developmental specialist conduct thorough physical and developmental
evaluations
o Neurologist
o Pediatrician
o OT
o PT
o SLP
o Developmental nurse
o Audiologist

Prognosis:
 Typically live to adulthood but life expectancy may be less than normal adulthood
 Functional prognosis varies greatly depending on type and severity of CP, amount and
type of intervention received, availability and use of assistive devices
 Respiration has a major influence on life span

Medical/Educational/Therapeutic Management:
 OT, PT, SLP
 Neurology
 Primary pediatrics
 Social work
 Behavioral intervention
 Antispasticity medications – can improve motor patterns and ROM
o Long term effects unclear
o Benefits unclear
o Recent use of implanted medication pumps may be more functional
 Baclofin pump – inserted into stomach; depends on patient; helps with
spasticity

 Neural blocks

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o Recent use of injectable botulinum toxin (botox) has been used to block nerve-
muscle junction effectively
 Deadly in general circulation but not when injected intramuscularly in
minute quantities
 Blocks neuromuscular junction for 3-6 months allowing for use of muscle
without spasticity; need to do a lot of therapy after botox to reap the
benefits
 Long-term effects are not well-researched
 Orthopedic surgery to correct joint deformities, contractures, scoliosis, correction of hip
dislocations
o Most common surgeries include tendon release (permanent lengthening of the
muscle) and tendon transfer (moving the point of attachment of a tendon on a
bone) – requires cast for 6-8 weeks and may need to be repeated as child grows
since tone has not changed
 Neurosurgery (most common – selective posterior rhizotomy [SPR])
o 50% of dorsal rootlets at L2-S2 are severed to muscles determined to be spastic
o Good candidates are children with spastic diplegia, normal cognitive functioning,
lack of deformities and good underlying muscle strength
o Complications/long term problems: persistent back pain, bowel and bladder
problems, breakdown of vertebrae, severe lumbar lordosis, sensory changes

Implications for OT:

• Things impacted by CP – School, feeding, self-care, communication, play, psychosocial,
future, motor function, personal relationships, self-esteem, sensory, AROM, PROM,
behaviorally
• Need to provide community resources and support for parents and families. Equipment
may be needed to help child perform ADL’s
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DEVELOPMENTAL DISABILITIES:
Disorders found in childhood that are not specifically associated with one body system and that
delay the developmental progress of the child (Case-Smith, p.163)
 Mental retardation (MR)
 Autism and Pervasive developmental disorders (PDD) – terminology is now
autism spectrum disorders
 Attention-deficit hyperactivity disorder (ADHD)
 Learning disabilities (LD)

MENTAL RETARDATION

Description: (many kids now diagnosed with autism)

• Functional deficit describing several disabilities
• Significantly impaired intellectual ability usually measured on standardized
psychoeducational tests
• Onset before 18 years of age

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• Impairment of the adaptive abilities necessary for independent living

Etiology:
• Can occur secondarily to another condition or without known cause
• Estimated to be >300 causes of MR
o Problems acquired in childhood (e.g., toxins, trauma, infection)
o Problems of fetal development and birth
o Chromosomal problems
o CNS malformations
o Congenital anomalies
o Neurocutaneous, metabolic, and endocrine disorders
Incidence:
• Most common of developmental disabilities
• Most common causes of MR include: Down Syndrome, Fragile X syndrome, and Fetal
Alcohol Syndrome
• 0.8%-3% of the population

Classification:
• Mild (IQ 55-70)
o Able to learn academic skills at 3rd to 7th grade levels
o Usual achievement of social and vocational skills adequate to live in the
community with intermittent support
 Adult employment rate is 80%; 80% are married
• Moderate (IQ 40-55)
o Require support to function in society
o May learn academic skills up to 2nd grade level
 Some reading, addition/subtraction/ simple money handling
o Handle routine daily functions – dressing and bathing
o Unskilled or semi-skilled work in sheltered workshop
o As adults, live in group housing or supervised housing
• Severe (IQ 25-40)
o Usually learn to communicate (gestures, some words)
o Trained in basic health habits
o Require extensive support and supervision to accomplish most tasks
• Profound (IQ <25)
o Need caregiver assistance for basic survival skills (feeding)
o Minimal capacity for sensorimotor or self-care functioning
o Often have neuromuscular, orthopedic, or behavioral deficits

Signs and Symptoms: you see these things when they are younger, before assessments
• Delays meeting motor and language milestones
• Nonresponsiveness or limited responses to handling and physical contact
• Reduced alertness or spontaneous play (don’t understand abstract and symbolic play)
• Feeding difficulties

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• Neurological soft signs (poor balance, motor asymmetry, perceptual motor deficits, fine
motor problems)

Associated problems:
• ~80% have additional problems
• ~50% have speech deficits
• ~50% have ambulation problems
• ~20% have seizures
• ~25% have visual deficits
• ~40% have chronic conditions such as heart disease, diabetes, anemia, obesity, dental
problems

Average lifetime cost – Over $1 million dollars more than a normal developing person for day-
to-day living

Diagnosis:
• Formal diagnosis is usually made when child reaches school age
• Formal testing
o Intelligence quotient (IQ)
 Score of more than two standard deviations below normal
o Tests of adaptive behavior
 Basic reasoning
 Environmental knowledge
 Daily living skills
 Self-maintenance skills (safety)
• History
Prognosis:
• Influenced by:
o Socioeconomic status – can be expensive
o Environmental events
o At least one parent highly committed to child – divorce is common
o Child unique personality

Medical/Educational/Therapeutic Management:
• Psychologist
• Special education teacher
• OT, PT, SLP
• Social work
• Vocational educator
• Behavioral intervention

Implications for OT:

• Self-care, community living, behavior (may need to refer to other behavior specialties),
social skills, safety awareness, education and support of the family, developmental
milestones to maximize function

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PERVASIVE DEVELOPMENTAL DISORDERS (PDDs), now Autism Spectrum Disorder

Broad class of conditions reflecting a wide range of deficits, autism is the most well-documented
form.

Other diagnoses in the category of PDDs are:

 Atypical autism
 Rett syndrome
 Other childhood disintegrative disorders
 Asperger’s syndrome
 Pervasive developmental disorder-not otherwise specified (PDD-NOS)

AUTISM

Description:
 Characterized by severe and complex impairments in reciprocal social interaction and
communication skills and by the presence of stereotyped behavior, interests and activities
(APA, 2000)
 Among most devastating of developmental disabilities due to unusual combination of
sensorimotor and behavioral deficits

Etiology:
 Unknown
 Most likely due to complex combination of family genetic factors and neurobiologic
vulnerability
 It is neurologic in origin
 Biologic disorder of neurologic development

Incidence:
 3-6 per 1000 persons
 Rate nearly twice as high as when autism first identified
 ~4 times more boys than girls
 Found in all racial, ethnic, intelligence, and socioeconomic backgrounds

Classification:
 Mild
 Moderate
 Severe

Signs and Symptoms:

 Disturbances in social interactions
o Inability to relate to others
o Difficulty with interactions requiring initiative or reciprocal behavior

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o Poor or fleeting eye contact

o Delayed or absence of social smile
o Lack of response to name
o Apparent aversion to physical contact
o Delayed or absent anticipation of being picked up
o Apparent preference for being alone
 Disturbances in communication
o Ranges from apparent normal language with tone or articulation problems to
complete lack of speech
o Echolalia (immediate or delayed) – repeat all or part of what someone else has
said
o Non communicative or functional language
o Syntax problems
o Atonal or arrhythmic speech
o Pronoun reversals
o Lack of inflection or emotion during speech
 Disturbances of behaviors
o Ritualistic and repetitive behaviors
o Intolerance to changes in routine
o Lack of pretend play
 Disturbances of sensory and perceptual processing
o Abnormal responses to visual, vestibular, tactile and/or auditory stimuli
o Two types described by A. Jean Ayres, OTR
 Poor or lack of registration of, or orientation to, sensory input (the
neurophysiological process that registers sensory input are working well
sometimes and no working other times; therefore, child may react
appropriately one minute and overreact or underreact the next minute to
the same stimuli)
 Poor control, or modulation of stimuli once in has been registered by the
child (sometimes processes tactile input normally and at other times is
hyperreactive)

Associated problems:
 MR
 Seizure disorders
 Discontinuities in developmental rates

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Prognosis:
 Most have normal life expectancies
 Closely related to communication skills and cognitive level
 Some live and work independently in the community with deficits in social interaction
 Some will be fairly independent needing only minimal support for ADL
 Others will need maximum support

Medical/Educational/Therapeutic Management:
 Highly structured, interdisciplinary approach seems to be most effective
 OT, SLP
 Behavioral intervention
 Special education
 Medication
 Dietary interventions
 Family support services

Implications for OT:

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ATTENTION DEFICIT HYPERACTIVITY DISORDER (ADHD)

Description:
 Most common childhood neurobehavioral disorder
 Heterogeneous behavioral disorder where children exhibit inattention, hyperactivity and
impulsivity

Etiology:
 Unknown
 Possible causes: genetic factors, neurological factors, neurochemical imbalances
 Child have to exhibit it consistently, rather than it being a sugar buzz

Incidence:
 3-5% of school-aged population (~2 million children)
 Runs in families
 25 percent of close relative of families with ADHD children have ADHD in comparison
to 3-5 percent of gernal pop.

Classification:
 Primarily inattentive type
 Primarily hyperactive-impulsive type

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 Combined type
 Not otherwise specified…we have no clue of the causes

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Signs and Symptoms: have to have 6 of the nine here to diagnose

 Inattentive ADHD criteria
o Failure to give close attention to details
o Difficulty sustain attention
o Does not appear to listen
o Has difficulty following instructions
o Difficulty with organization
o Avoids tasks requiring sustained attention
o Often loses things
o Easily distracted
o Forgetful in daily activities
 Hyperactivity, impulsive ADHD criteria: Six of 9 have to be present of the diagnosis
o Fidgets or squirms
o Difficulty staying seated
o Runs or climbs inappropriately
o Difficulty engaging in activities quietly
o Always “on the go”, “driven by a motor”
o Talks excessively
o Blurts out answers
o Difficulty waiting their turn
o Interrupts or intrudes upon others
 Try not to use the term hyper of hyperactive when describing patient because it has an
implication, instead describe the behaviors that you see
Associated problems:
 Deficits in reading skills
 Poor social skills
 Decreased academic achievement
 Oppositional or conduct disorders
o Oppositional Defiant Disorders
 Child is defiant, stubborn, non-compliant, temper outbursts, refuse to
obey rules, like to argue, belligerent, more serious type of conduct
disorders but it can be associated with ADHD.
 Sensory integration problems
 Learning disabilities
 Anxiety and depression

Diagnosis:
 Behaviors must occur “often”, differentiating child from typical behaviors
 Symptoms must persist for at least 6 months to a degree that is maladaptive and interferes
with all occupational activities (self-care, academic performance, peer relationships)
 May be diagnosed by neurologist, psychiatrists, primary care physician
 Impairment in more than one setting

Prognosis:

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 Typically persists through adolescence and sometimes into adulthood

Medical/Educational/Therapeutic Management:
 Best type of treatment may be to use more than 1 method
 Restricted diet may be successful in reducing symptoms in ~5% of children
 Medication (allows 9/10 children to focus, be more successful at school, home, play)
 Behavioral interventions
 Cognitive-behavioral therapy
 Educational intervention
 Social skills training
 Psychotherapy
 Parent and Child education…very important!!!

Implications for OT:

• Sensory Integration treatment to increase their ability to know what is important
information
• Classroom adaptation: modification to achieve the optimal attention
• Compensatory strategies
• Social skill training: how to read people social cues so that they are not so intrusive
• ADL: sometimes they have a hard time remembering and completing tasks
• Play skills for kids, self management techniques (anger management, ect)
• Older kids: Independent living skills
• Resource:
o www.help4adhd.org

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LEARNING DISABILITIES

Description:
 Group of problems that affect the ability of a child to master school tasks, process
information and communicate effectively
 Affects a person’s ability to either interpret what they see and hear or to link information
from different parts of the brain
 Generic term that refers to a heterogeneous group of disorders manifested by significant
difficulties in the acquisition and use of listening, speaking, reading, writing, reasoning or
mathematic abilities
 Not associated with specific neurological impairment
o However, it can be associated with other neurologically based disorders. There
are certain neurological based conditions that causes the child to have a learning
disabilities.

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Etiology:
 Unknown

Incidence:
 ~4-5% of school population (~2 million children)
 4:1 ratio of boys to girls

Classification:
 There are many types of LD. Listed are the most common:
 developmental speech and language disorders
o developmental articulation (ability to form words so the listener can hear them
well) disorder
o developmental expressive language disorder
o developmental receptive language disorder (ability to understand language)
 academic skills disorders
o developmental reading disorder (dyslexia)
o developmental writing disorder (dysgraphia, takes them a long time to write
neatly or write at all)
o developmental arithmetic disorder (dyscalculia, usually have vision problems)

Signs and Symptoms:

 Most children have average or above-average intelligence, have adequate sensory acuity
and have been provided with appropriate learning opportunities so an inability to learn
does not make one LD. In fact, kids can be gifted and have a LD…so it does not mean the
child have to have a low IQ!
 Significant discrepancy between child’s academic potential and child’s educational
performance
 May display any behaviors in the following categories:
o Disorders of motor function (motor skills and motor activity level)
 Clumsiness; Dyspraxia (difficulty planning and performing new motor
movement)
 Poor fine and/or gross motor skills
 Balance deficits
o Educational disorders
 Observed in one or more academic subjects
 Difficulty copying from the board
 Handwriting problems
 Understanding written or verbal directions
 Cutting, coloring drawing
 Keeping place on page
o Disorders of attention and concentration
 Decreased attention span
 Restlessness
 Impulsivity
o Disorders of thinking and memory

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 Poor abstract reasoning

 Poor short and long term memory
o Problems with speech and communication
 Difficulty shifting conversation topics
 Articulation problems
 Difficulty with “small talk”
o Auditory difficulties
 Auditory memory (can’t remember verbal directions given to them)
 Phonemic synthesis (cannot blend sounds with words)
 Speech-in-noise (child cannot block out background hose)
 Auditory sequencing (child can’t remember sequencing of sounds, worlds,
and numbers)
o Sensory integration and perceptual disorders
 Poor bilateral integration
 Laterality and directionality problems
 Poor visual perception
o Psychosocial problems
 Temper tantrums
 Antisocial behavior
 Poor self-esteem

Associated problems:
 MR
 ADHD
 Allergies, ear infections

Diagnosis:
 Psychologist
 Testing includes verbal and performance components
 Often matter of clinical judgment
 Diagnosis of LD may not meet school systems’ criteria for LD services

Prognosis:
 Most children retain some degree of disability as adults
 Most are functional, contributing members of society. Remember, some are even gifted,
they just have a disabilities in other areas.

Medical/Educational/Therapeutic Management:
 Educational adaptations
 Vocational planning
 Psychosocial support
 OT, PT, SLP
 Audiology

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Implications for OT:

• Psychosocial skills
• Perceptual motor skills
• Compensatory learning strategies
• Handwriting instruction
• Sensory integration treatment
• ADLs
• Play skills
• Social skill training
• Independent living skills
• Client and Family Education and support
o www.ldonline.org

*Musculodystrophies are NOT ON THE TEST!!*

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OTHER RELEVANT DIAGNOSES

Intercranial hemorrhage:
 May occur prenatally, during the birth process or postnatally.
 Site and extent of bleeding affects prognosis
 Minor – extracranial bleeding, or cephalohematoma usually don’t cause permanent
damage
 Serious – Subdural, subarachnoid, and interventricular hemorrhage (IVH) may cause
seizures, brain damage, CP, and death.
 Categories of IVH (dependent on location)
o Grade I and II– good prognosis
o Grade III – poor prognosis
o Grade IV -- ~50% die; those who survive are at risk for hydrocephalus, MR,
deafness, seizure disorder, CP

Atrial septal defect (ASD)

 Opening in the septum between the right and left atrial chambers of the heart.

Ventricular septal defect (VSD)

 Opening in the septum between the right and left ventricular chambers of the heart
 Most common type of congenital cardiac malformation.

Patent ductus arteriosus (PDA)

 The ductus arteriosus does not close, which can lead to inadequate oxygenation of the
brain and heart failure
 One of the most common conditions found in premature newborns
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 The ductus arteriosus is the vessel connecting the pulmonary trunk with the aorta and
enables most blood to bypass fetal lungs. It closes at or shortly after birth in response to
increased oxygenation of the blood flowing through the ductus arteriosus.

Respiratory distress syndrome (RDS)

 Acute respiratory problem in newborns, especially preterm infants, caused by deficiency
of surfactant (chemical that prevents the alveoli from collapsing during expiration)
 Air sacs (alveoli) collapse, oxygen absorption and carbon dioxide elimination are affected
 Surfactant is not produced by the body until 34-36 weeks gestation
 Some infants may develop chronic lung problems

Bronchopulmonary dysplasia (BPD)

 Airways thicken, excess mucous forms and alveolar growth is retarded
 Results from acute respiratory problem which required prolonged mechanical ventilation
and other types of necessary, but perhaps traumatic respiratory interventions.

Cardiopulmonary dysfunctions – Implications for OT

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