Developmental Disorder (Exam 1) Flashcards
What is an incidence?
of new cases in a given time frame
What is prevalence?
if individuals who currently have the disease
What is prenatal?
before birth
What is perinatal?
As child is being born
What is postnatal?
After birth
What vitamin is important for pregnant women to have in their diet?
Folic Acid
What is anencephaly?
Neural tube defect- Cephalic end of neural tube fails to close
What physical deficits does anencephaly cause?
Absence of forebrain, cerebrum, skull & scalp
What system deficits may occur from anencephaly?
May have respiratory function from brainstem, no consciousness. blind or deaf
What is the prognosis for a child with anencephaly?
Stillborn or will usually die within hours or days after birth
What is microcephaly?
Circumference of head is significantly smaller than average for age and gender
- Face continues to develop at normal rate while head fails to grow
What is the prognosis of microcephaly?
Poor for normal brain function
- Decreased life expectancy
What deficits may occur from microcephaly?
Motor abilities range from clumsiness to spastic quadriplegia
What is porencephaly?
Cyst like cavities form in a cerebral hemisphere
What can cause porencephaly?
Result of destructive lesions or abnormal development
What is the presentation of porencephaly?
Hemiplegic type presentation, delayed development, seizures, hydrocephalus, intellectual disability
What is the prognosis of porencehpaly?
Depends on location and extent of lesion
What is lissencephaly?
Means smooth brain, lack of normal convolutions in brain
What can cause lissencephaly?
Defective neuronal migration (nerve cells move from place of origin to permanent location) during development
What are the symptoms of lissencephaly?
Failure to thrive, seizures, severe motor retardation, difficulty swallowing, anomalies of hands, finger and toes
What is the prognosis of lissencephaly?
Many die before age 2, range of near normal development & cognition to no significant development past 3-5 month old level
What is gestational age? And what is the typical gestation?
- Amount of time spent in utero
- 40 weeks
How many weeks does a child need to be in utero to be consider full term, preterm & post term?
Full: 37-42
Preterm: < 37
Post - term: >42
How many weeks does a child need to be in utero before they are consider high risk? Moderate risk? Not at high risk?
High risk: Below 28
Moderate: 28-32
Low: 32-36
Developmentally up to what age can we correct prematurity up to?
1 year
What is tested in regards to APGAR?
Heart rate
Respiratory effort
Muscle tone
Reflex
Color
What weight is considered to be full term, low, very low, and extremely low?
Full term: 2500-4100 grams (5.5-9.0lbs)
Low: <2500 grams (3.3 - 5.5lbs)
Very low: <1500 grams (2.2- 3.3lbs)
Extremely low: <1000 grams (<2.2lbs)
What does SGA stand for?
Small for gestational age
(below 10th percentile)
What does LGA stand for?
Large for gestational age
(above 90th percentile)
What is meconium?
Substance in fetus/newborn’s large intestine at time of birth
What are some reasons that meconium may be eliminated while still in utero or birth canal?
- Increase size of fetus (LGA)
- Post term infants
- Prolongs & difficult delivery
What can happen if meconium is eliminated too early?
Aspiration of substance can cause significant damage to pulmonary system and lead to more significant problems including brain damage due to hypoxia/anoxia
What is Erb palsy?
Paralysis of the upper extremity due to a traction injury to brachial plexus at birth
How does Erb Palsy occur?
Stretching of the brachial plexus during the birth process
What is affected in Erb-Duchenne palsy and what it is associated with?
- C5 to C6 nerve roots
- Increased birth weight & vertex delivery with shoulder dystocia
What is affected with whole arm palsy?
C5-T1 (whole plexus)
What is affected with Klumpke palsy?
C8-T1
What are some causes of Klumpke palsy?
- Often due to manipulation of the baby during birth causing hyperabduction of shoulder
- Heavy sedation or mother, difficult/breech delivery, face down (Occiput anterio)
What muscles loose strength if a patient has Erb Palsy?
Loss of strength in deltoid, Supraspinatus, infraspinatus, trees minor, biceps, brachialis, brachioradialis & supinator
What position does the arm remain if the patient has Erb Palsy?
Shoulder adducted & IR
Forearm pronated
Fingers flexed
Where does sensory loss occur during Erb Palsy?
In C5- C6 dermatome
In klumpke palsy what muscles are involved?
Wrist flexors
Long finger flexors
Hand intrinsics
What appearance will the hand have in Klumpke Palsy?
Claw hand
What is the prognosis of Erb Palsy?
No antigravity elbow flexion by 3 months = poor recovery
- 53% near normal function
- An additional 39% good functional revcovery
What is syphilis and how can it get transmitted from mother to child?
Sexually transmitted bacteria that can be passed to mother to fetus via placenta
What is the death rate of children who get syphilis from their mother?
- 25% fetal death by 2nd trimester
- 25% die soon after birth
What is the clinical presentation of children who have syphyliis when they are born and survive?
- 25% show jaundice, anemia, pneumonia, skin rash & bone inflammation
- 75% no signs at birth but later will manifest abnormalities of teeth, blindness, skeletal anomalies, intellectual disability, deafness
How is syphilis diagnosised and managed?
- blood test
- Antibiotics (penicillin)
What is toxoplasmosis ?
Protozoan present in cat feces
What can occur in utero if a child develops toxoplasmosis?
Spontaneous abortion or premature delivery
What characterizes infants who are affected with toxoplasmosis?
Characterized by LBW, enlarged liver/spleen, jaundice, anemia
What other diagnosises may an infant get if born with toxoplasmosis?
- Hydrocephalus
- Microcehpahly
- calcification in the brain
- Intellectual disability
- Seizures
- Cerebral palsy
- Diseases of Reina causing blindness
How is toxoplasmosis diagnosed?
- Suspect in any infant showing signs of congenital infection
- confirmed with blood test
What is the management of toxoplasmosis?
Anti-protozoan medication used during newborn period may prevent further damage
What is HIV?
Infection by human immunodeficiency virus
What is the clinical picture of infants with AIDS?
- Opportunistic infections
- Pneumonitis
- Microcephaly
- Neurologic abnormalities
How is HIV diagnosed and managed?
- Blood test
- Managed by a variety of drug therapies to address HIV and other meds to address opportunistic infections
What is the pathophysiology of rubella?
Togavirus which multiples in upper respiratory tract and passes into blood stream via cervical lymph nodes
What is the clinical pictures of rubella?
- May cause spontaneous abortion
- Blindness, deafness, ID, LBW, rash
- Heart defects, enlarged liver/spleen, microcephaly, cataracts, micropthalmia
What is the clinical picture of a newborn specifically with rubella?
lethargic, inactive, opisthotonos posture (extension), seizures, thyroid disease, diabetes
How is rubella diagnosed and managed?
- Blood test
- Can’t reverse damage, best to prevent before it even happens
What can cytomegalic inclusion disease in an infant present as?
- LBW, jaundice, rash, micropthalmia, disease of retina, deafness, developmental delay
- Or intrauterine death or premature death
How is cytomegalic inclusion disease diagnosed and managed?
- Blood test
- No specific treatment
How is Herpes transmitted from mother to fetus?
-Neonatal rather than through placentas
- Often transmitted during birth when mother has active genital herpes
What is the clinical picture of an infant with mild case of herpes?
Disease of skin and mucus membranes of eyes & mouth
What is the clinical picture of an infant with a severe case of herpes?
Involves body organs including brain, microcephaly, retinal disease, development delay
How is herpes diagnosed and when will an infant show signs of infection?
- Diagnosis by isolation of virus and other lab tests
- Infants show signs 5-9 days after birth
What is the medical management of herpes?
- Antiviral meds reduce number of deaths, but severe brain damage occurs even with treatment
- Best to identify prior to birth and attempt C section
What is a teratogen?
Chemical or substance in environment that is exposed to mother and effects the baby
What environmental teratogen causes feet or hands to be attached to trunk by short irregular shaped stumps resembling fins of a seal?
Thalidomide - was used as sleeping pill
What environmental teratogens can cause brain and craniofascial anomalies or death if taken during pregnancy?
Acutain - used for cystic acne
What can neonatal abstinence syndrome looks like?
- Body shakes, seizure, overactive reflexes & increased muscle tone
- Fussiness, excessive crying or having a high pitched cry
- Poor feeding or sucking or slow weight gain
- Breathing problems, including breathing really fast
- Fever, sweating or blotchy skin
What constitutes as failure to thrive?
Weight consistently below 3rd percentile
What are some reasons for failure to thrive?
Organic (growth inhibiting disorder)
Non organic (environmental neglect)
Mixed
If a baby is born before 29 weeks of gestation what impact can that have on the respiratory function?
- Surfactant not produced yet and alveolar development and lung maturation are not complete until 35 weeks gestation
- Therefore, this creates chance for hypoxia, anoxia, adequate oxygen delivery, causes alteration in blood pressure
What is the germinal matrix and how long does it remain?
-Thin & fragile mesh work of blood vessels forms in floor of lateral ventricle at 24-25 weeks gestation
- Remains until 35th weeks
What can happen to the germinal matrix if the baby is born prematurely?
- Baby can not maintain homeostasis therefore,
Spikes in BP
Changes in temp
Changes in respiration - All can cause rupture of germinal matrix
What causes an intraventricular hemorrhage?
- Difficulty regulating respiration
- Abrupt changes in BP
- Collapse or rupture of vessels in germinal matrix
- Leakage of blood and CSF into periventricular region
- Fluid may be reabsorbed or encapsulated forming cysts
What is a grade 1 IVH?
bleeding confined to small area where it first began
What is a grade 2 IVH?
blood is also within ventricles
What is a grade 3 IVH?
More blood in ventricles, usually with ventricles increasing in size
What is a grade 4 IVH?
collection of blood within brain tissue
Is there a cure for IVH?
No, just need to help baby maintain homeostasis
What grades of IVH are at an increased risk of brain damage?
Grade 3 & 4
What is common complication if an IVH is managed surgically?
Hydrocephalus
What is usually the outcome for IVH grade 1?
Neurodevelopment disability similar to premature infants without IVH
What is usually the outcome for IVH grade 2-3?
-Neurodevelopmental disability in 40%
- Mortality 10%
- Progressive hydrocephalus in 20%
What is usually the outcome for severe IVH?
- major neurodevelopment disability in 80%
- Mortality rate 50-60%
- Hydrocephalus common in survivors
What does BPD stand for?
Bronchopulmonary Dysplasia
What does RDS stand for?
Respiratory Distress Syndrome
What is retinopathy of prematurity?
eye not fully developed
What is necrotizing enterocolitis?
-Significant inflammation of GI system leading to rupture
What is hyperbilirubinemia?
red blood cells being damaged & not being maintained in body
What is the definition of Cerebral Palsy?
- Not a disease but category of developmental disabilities w/ an early onset
- Non progressive CNS deficit
Cerebral Palsy is a non-progressive CNS deficit, so what does this result in relative to impairments?
- Motor impairments and sensory abnormalities
What is the most common motor disability in childhood?
Cerebral Palsy
What are the causes of CP?
- No one cause
- Can be: Congenital, Acquired or Genetic
For CP to be congenital what are some prenatal causes?
- Hereditary (Rh compatibility)
- Infection (Metabolic disorders)
- Anoxia (Errors in brain development)
- Jaundice
Which is the greatest predictor outcome for CP? Gestational age or size?
- Gestational age rather than size is greatest predictor of future outcome
For CP to be congenital what are some perinatal causes?
- Compression of brain or rupture of blood vessels during prolonged or difficult deliveries
- Asphyxia - drug induced, premature separation of placenta, mechanical obstruction
- Problems associated with post maturity
What is acquired CP a result of?
Brain damage in first few months to years of life
What are some ways acquired CP is caused by?
- Brain infection
- Head Injury
- Seizures, tumors, near drowning
- Intracranial hemorrhage, vascular accidents
Relative to the Classification of CP what is monoplegia?
One extremity
Relative to the Classification of CP what is diplegia?
Severe involvement of LE & less of UE
Relative to the Classification of CP what is Hemiplegia?
Left or Right side involvement
Relative to Classification of CP what is quadriplegia/ Tetraplegia?
Involvement of all 4 extremities & trunk
Relative to Classification of CP by motor impairments, spastic is a result of damage to?
Motor cortex or projections to and from sensorimotor cortex - pyramidal system
What is spasticity?
Increased resistance to stretch
Relative to Classification of CP by motor impairments what is hypotonic?
Decreased tone and ability to generate muscle force
Relative to Classification of CP by motor impairments what is dyskinetic?
- Intermittent tone in extremities and trunk
- Involuntary movement patterns
Dyskinetic results from damage too?
Basal ganglion
Relative to Classification of CP by motor impairment what is ataxic?
General instability of movement
Ataxic is a result of damage to?
Cerebellum
General clinical Picture of Children with CP:
1. (BLANK) to reach milestones
2. (BLANK) muscle tone
3. (BLANK) reflex development
4. Description of Posture?
5. What sensory impairments?
6. Cognitive impairments?
- Slow
- Abnormal
- Atypical
- Unusual posture or favor one side of body
- Proprioception, vision, hearing & others
- With or without
How is CP diagnosed?
- Assessment of motor skills
- Examination of history
- Rule out other disorder which can cause motor problems
- Establish non- progressive nature of problem
What diagnostic tests can be used for diagnosing CP?
- CT
- MRI
- Ultrasound
What is the prognosis of CP?
- Non progressive disorder
- Lesion within the brain are not increasing in size or severity of damage to surrounding tissues
- Child may appear as though the condition is worsening they grow and develop
What is fetal alcohol syndrome?
Constellation of abnormalities directly related to alcohol ingestion during pregnancy
What is the pathophysiology of fetal alcohol syndrome?
- Direct effect of alcohol on developing organs
- Genetic predisposition or poor nutrition may be factor
- May damage fetus anytime during pregnancy
- No established amount of alcohol pregnant women can safely consume
Fetal Alcohol Syndrome fascial dysmorphology is characterized by?
- Microcephaly, small wide set eyes, thin upper lip
- Shortened upturned nose, receding chin
- Drooping eyelids, cleft palate, small mouth
- Wide space b/w nose & upper lip
What is the clinical picture of fetal alcohol syndrome?
- Pre & post natal growth deficiency
- Facial dysmorphology
- Muscle changes, visual disturbances, congenital heart disease, behavior problems
What 3 criteria must be met in order to receive a diagnosis of FAS?
- Characteristic fascial features
- Growth retardation
- Central nervous system neurodevelopment abnormalities
In regards to diagnosis of FAS what are the characteristic facial features?
- Flattened midface
- thin upper lip
- Indistinct/absent philtrum
- Short eye slits
In regards to diagnosis of FAS how is growth retardation characterized?
- Lower birth weight
- Disproportional weight not due to nutrition
- Height and/or weight below 5th percentile
In regards to diagnosis of FAS how is Central nervous system neurodevelopment abnormalities characterized?
- Impaired fine motor skills
- Learning disability
- Behavior disorder or a mental handicap
While the true cause of Reye’s syndrome is unknown what are some potential causes?
- Acute viral infection
- Associated w/ aspirin use
- Exogenous toxin or intrinsic metabolic defects
- Acute encephalopathy & fatty degeneration of viscera or meninges
What is the clinical picture of Reye’s syndrome?
Fever, rhinorrhea, sore throat, cough, abdominal pain, diarrhea, rash
In Reye’s syndrome onset of encephalitis may occur what is the progression from that?
Encephalitis –> mild amnesia –> lethargy –> disoriented/agited –> coma & unresponsive –> decorticate or decerebrate posture
How is Reye’s syndrome diagnosed?
- Significant increase in sera ammonia levels
- Presentation usually follows acute viral infections
What is the medical management of Reye’s syndrome?
- Peritoneal dialysis, blood transfusion. restoration of blood levels. IV electrolytes, endotracheal tube & controlled ventilation, meds to overcome urea cycle deficiency & intracranial pressure
What population is Rett syndrome prevalent in?
Females - lethal to males
What is the clinical picture of Rett syndrome?
Period of normal development to 6 month with deterioration between 6- 18 months
Individuals with Rett syndrome have normal size at birth w/ decreased rate of growth then what is the presentation after that?
- Loss of acquired behavior/social/psychomotor skills
- Severe/profound ID, loss of language skills
- Loss of purposeful hand skills, replaced by stereotypic hand wringing, clapping, waving & mouthing
How is Rett syndrome diagnosed?
- Via clinical presentation, often misdiagnosed
How is Rett syndrome managed?
Seizure meds
The pathophysiology of Tourette’s Syndrome is unknown but what may it be associated with?
Psychological problems, encephalitis, tics (habitual spasms)
What is the clinical picture of Tourette’s Syndrome?
Habitual spasms, vocal noises, coprolalia, abnormal EEG
When is the onset of Tourette’s Syndrome?
- Onset 2-13 y/o and may increase in severity in childhood and resolve in adulthood
How is Tourette’s Syndrome diagnosed?
Via clinical picture
How is Tourette’s Syndrome managed?
- Medications: sedatives, dopamine blockers, haloperidol to block tics
- Psychotherapy
What is an intellectual disability?
-Characterized by significant imitation in both intellectual functioning and in adaptive behavior, which covers many everyday social & practical skills
- Originates before age of 18
What is the classification for intellectual disability based on IQ
- Mild
- Moderate
- Severe
- Profound
Mild 52-68
Moderate 36-51
Severe 20-35
Profound <20
What is the intellectual disability medical classification based on ?
Degree of severity of intellectual impairment (IQ)
What is the intellectual disability educational classification based on?
Support needed for functional tasks/educational success
What is the etiology for intellectual disability?
- Infections/toxins
- Trauma
- Metabolic/nutrition deficits
- Errors of brain formation
- Environmental deprivation
- Neonatal disorders
- Seizures
- Chromosomal abnormalities
What is the difference between hyporesponsive vs hyper responsive in regards to intellectual disability sensory impairments?
- Hypo responsive the individual will see out the sensory sensation
- Hyper responsive will cause the individual to produce negative thought and they would want to get away from it all costs
What are some sensory impairments an individual with intellectual disabilities will exhibit?
- Visual
- Auditory
- Tactile
- Vestibular
- Self stimulatory behavior
What is a learning disorder?
Inability to acquire, retain, or generalize specific skills or sets of information because of deficiencies in attention, memory, perception or reasoning
Learning disabilities are presumed to caused by? and not the direct result of?
- Caused by CNS dysfunction
- Not direct result of other disease processes or environmental influences, but may occur concomitantly with other diseases processes/conditions
What is the clinical picture for ADHD?
- Inattention
- Hyperactivity
- Impulsivity
- Motor incoordination
- Perceptual motor dysfunctions
- Emotional lability, opposition, anxiety, aggressiveness, mood swings
- Poor social skills & peer relationships, sleep disturbances
At what age is the onset of ADHD? And what is the typical age of referral to MD?
- Onset typically before 4 y/o
- Referral about age 8-10 y/o
How is ADHD diagnosed?
- Difficult
- Need to rule out other developmental disorders/ behavior disorders
- Considered a psychiatric disorder
What is the prognosis of an individual with ADHD?
Child with ADHD becomes an adult with ADHD
How is an individual with ADHD managed medically?
- Medication (ritalin & adderall)
- Counseling
What are some synonymous terms for developmental coordination disorder (DCD)?
- Developmental clumsiness
- Clumsy child
- Developmental apraxia
What is the pathophysiology of DCD?
No specific pathological process or single neuroanatomic site implicated
What is the clinical picture DCD?
- Poor strength, poor coordination, jerky movements, poor visual perception
- Joint laxity, poor spatial organization, poor LTM & STM, poor sequencing & feedback
- Low self esteem, distractibility, delay & poor quality of gross motor skills
What is Autism Spectrum Disorder (ASD) defined by?
- Developmental disorder that affects communication & behavior
- Affects thought, perception & attention
- Broad spectrum of disorders ranging from mild to severe
What is the symptoms of ASD?
- No specific or defined set of sxm
How is ASD diagnosed?
- DSM 5 Psychiatric Diagnosis
- Difficulty with communication & interaction with other people
- Restricted interests & repetitive behaviors
- Sxm that hurt person’s ability to function properly in school, work & other areas of life
